Search results for: Jalili syndrome

Authors: Elena E. Lyakso, Olga V. Frolova, Yuri N. Matveev, Aleksey S. Grigorev, Alexander S. Nikolaev, Viktor A. Gorodnyi

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The study of the children’s emotional sphere depending on age and psychoneurological state is of great importance for the design of educational programs for children and their social adaptation. Atypical development may be accompanied by violations or specificities of the emotional sphere. To study characteristics of the emotional state reflection in the voice and speech features of children, the perceptual study with the participation of adults and the automatic recognition of speech were conducted. Speech of children with typical development (TD), with Down syndrome (DS), and with autism spectrum disorders (ASD) aged 6-12 years was recorded. To obtain emotional speech in children, model situations were created, including a dialogue between the child and the experimenter containing questions that can cause various emotional states in the child and playing with a standard set of toys. The questions and toys were selected, taking into account the child’s age, developmental characteristics, and speech skills. For the perceptual experiment by adults, test sequences containing speech material of 30 children: TD, DS, and ASD were created. The listeners were 100 adults (age 19.3 ± 2.3 years). The listeners were tasked with determining the children’s emotional state as “comfort – neutral – discomfort” while listening to the test material. Spectrographic analysis of speech signals was conducted. For automatic recognition of the emotional state, 6594 speech files containing speech material of children were prepared. Automatic recognition of three states, “comfort – neutral – discomfort,” was performed using automatically extracted from the set of acoustic features - the Geneva Minimalistic Acoustic Parameter Set (GeMAPS) and the extended Geneva Minimalistic Acoustic Parameter Set (eGeMAPS). The results showed that the emotional state is worse determined by the speech of TD children (comfort – 58% of correct answers, discomfort – 56%). Listeners better recognized discomfort in children with ASD and DS (78% of answers) than comfort (70% and 67%, respectively, for children with DS and ASD). The neutral state is better recognized by the speech of children with ASD (67%) than by the speech of children with DS (52%) and TD children (54%). According to the automatic recognition data using the acoustic feature set GeMAPSv01b, the accuracy of automatic recognition of emotional states for children with ASD is 0.687; children with DS – 0.725; TD children – 0.641. When using the acoustic feature set eGeMAPSv01b, the accuracy of automatic recognition of emotional states for children with ASD is 0.671; children with DS – 0.717; TD children – 0.631. The use of different models showed similar results, with better recognition of emotional states by the speech of children with DS than by the speech of children with ASD. The state of comfort is automatically determined better by the speech of TD children (precision – 0.546) and children with ASD (0.523), discomfort – children with DS (0.504). The data on the specificities of recognition by adults of the children’s emotional state by their speech may be used in recruitment for working with children with atypical development. Automatic recognition data can be used to create alternative communication systems and automatic human-computer interfaces for social-emotional learning. Acknowledgment: This work was financially supported by the Russian Science Foundation (project 18-18-00063).

Keywords: autism spectrum disorders, automatic recognition of speech, child’s emotional speech, Down syndrome, perceptual experiment

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Authors: Magdalena B. Kaziuk, Waldemar Kosiba, Marek J. Kuzniewski

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Introduction: Adipose tissue is a typical place for storage water-insoluble toxins in the body. It's connective tissue, where the intercellular substance consist of fat, which level in people with low physical activity should be 18-25% for women and 13-18% for men. Due to the fat distribution in the body we distinquish two types of obesity: android (visceral, abdominal) and gynoidal (gluteal-femoral, peripheral). Abdominal obesity increases the risk of complications of the cardiovascular system diseases, and impaired renal and liver function. Through the influence on disorders of metabolism, lipid metabolism, diabetes and hypertension, leading to emergence of the metabolic syndrome. So thus, obesity will especially overload kidney function in patients after transplantation. Aim: An attempt was made to estimate the impact of amount fat tissue on transplanted kidney function and excretory function of the liver in patients after Ktx. Material and Methods: The study included 108 patients (50 females, 58 male, age 46.5 +/- 12.9 years) with active kidney transplant after more than 3 months from the transplantation. An analysis of body composition was done by using electrical bioimpedance (BIA) and anthropometric measurements. Estimated basal metabolic rate (BMR), muscle mass, total body water content and the amount of body fat. Information about physical activity were obtained during clinical examination. Nutritional status, and type of obesity were determined by using indicators: Waist to Height Ratio (WHR) and Waist to Hip Ratio (WHR). Excretory functions of the transplanted kidney was rated by calculating the estimated renal glomerular filtration rate (eGFR) using the MDRD formula. Liver function was rated by total bilirubin and alanine aminotransferase levels ALT concentration in serum. In our patients haemolitic uremic syndrome (HUS) was excluded. Results: In 19.44% of patients had underweight, 22.37% of the respondents were with normal weight, 11.11% had overweight, and the rest were with obese (49.08%). People with android stature have a lower eGFR compared with those with the gynoidal stature (p = 0.004). All patients with obesity had higher amount of body fat from a few to several percent. The higher amount of body fat percentage, the lower eGFR had patients (p <0.001). Elevated ALT levels significantly correlated with a high fat content (p <0.02). Conclusion: Increased amount of body fat, particularly in the case of android obesity can be a predictor of kidney and liver damage. Due to that obese patients should have more frequent control of diagnostic functions of these organs and the intensive dietary proceedings, pharmacological and regular physical activity adapted to the current physical condition of patients after transplantation.

Keywords: obesity, body fat, kidney transplantation, glomerular filtration rate, liver function

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Authors: Endrik Mifta Shaiful, Firman Riyudha

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Acquired Immunodeficiency Syndrome (AIDS) is one of the world's deadliest diseases caused by the Human Immunodeficiency Virus (HIV) that infects white blood cells and cause a decline in the immune system. AIDS quickly became a world epidemic disease that affects almost all countries. Therefore, mathematical modeling approach to the spread of HIV and AIDS is needed to anticipate the spread of HIV and AIDS which are widespread. The purpose of this study is to determine the parameter estimation on mathematical models of HIV transmission and AIDS using cumulative data of people with HIV and AIDS each year in Indonesia. In this model, there are parameters of r ∈ [0,1) which is the effectiveness of the treatment in patients with HIV. If the value of r is close to 1, the number of people with HIV and AIDS will decline toward zero. The estimation results indicate when the value of r is close to unity, there will be a significant decline in HIV patients, whereas in AIDS patients constantly decreases towards zero.

Keywords: HIV, AIDS, parameter estimation, mathematical models

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Authors: Nermeen Elbeltagy, Helmy abd Elsatar, Sara Hassan, Mohamed Darwish

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Introduction: with the inial appearance in Wuhan, China, in December 2019, the coronavirus disease-related respiratory infection (COVID-19) has rapidly spread among people all over the world. The WHO considered it a pandemic in March 2020. The severe acute respiratory syndrome coronavirus (SARS-CoV) and the Middle East respiratory syndrome coronavirus (MERS-CoV) outbreaks have proved that pregnant females as well as their fetuses are exposed to adverse outcomes, including high rates of intensive care unit (ICU) admission and case fatality. Physiological changes occurring during pregnancy such as the increased transverse diameter of the thoracic cage as well as the elevation of the diaphragm can expose the mother to severe infections because of her decreased tolerance for hypoxia. Furthermore, vasodilation and changes in lung capacity can cause mucosal edema and an increase in upper respiratory tract secretions. In addition, the increased susceptibility to infection is enhanced by changes in cellmediated immunity. Aim of the work: to study the effect of COVID-19 on pregnant females admitted to El-Shatby Maternity University Hospital regarding maternal antepartum, intrapartum and postpartum adverse effects on the mothers and their neonates. Method: A retrospective cohort study was done between October 2020 and October 2022. Maternal characteristics and associated health conditions of COVID-19 positive parents were investigated. Also, the severity of their conditions and me of infection (first or second or third trimester)were explored. Cases were diagnosed based on presence of symptoms suggestive of COVID-19, laboratory tests (other than PCR) and radiological findings.all cases were confirmed by positive PCR test results. Results: The most common adverse maternal outcomes were pre-term labor (11.6%) followed by premature rupture of membranes (5.7%), post-partum hemorrhage (5.4%), preeclampsia (5.0%) and placental abrupon (4.3%). One sixth of the neonates of the studied paents were admied to NICUs and 6.5% of them had respiratory distress with no neonatal deaths. The majority of neonates (85.4%) had a birth weight of 2500- 4000g (normal range). Most of the neonates (77.9%) had an APGAR score of equal or more than 7 in 5 minutes. Conclusion: the most common comorbidity that might increase the incidence of COVID-19 before pregnancy were diabetes, cardiac disorders/ chronic hypertension and chronic obstructive lung diseases (non-asthma). During pregnancy, anemia followed by gestational diabetes and pre-eclampsia/gestational hypertension were the most prevalent comorbidity. So, severity of infection can be reduced by good antenatal care.

Keywords: COVID-19, pregnancy outcome, complicated pregnancy., COVID in Egypt

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Authors: Mustafa Metin Donma, Orkide Donma

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Vitamin deficiencies are common in obese individuals. Particularly, the status of vitamin B12 and its association with vitamin B9 (folate) and vitamin D is under investigation in recent time. Vitamin B12 is closely related to many vital processes in the body. In clinical studies, its involvement in fat metabolism draws attention from the obesity point of view. Obesity, in its advanced stages and in combination with metabolic syndrome (MetS) findings, may be a life-threatening health problem. Pediatric obesity is particularly important because it may be a predictor of severe chronic diseases during the adulthood period of the child. Due to its role in fat metabolism, vitamin B12 deficiency may disrupt metabolic pathways of the lipid and energy metabolisms in the body. The association of low B12 levels with obesity degree may be an interesting topic to be investigated. Obesity indices may be helpful at this point. Weight- and fat-based indices are available. Of them, body mass index (BMI) is in the first group. Fat mass index (FMI), fat-free mass index (FFMI) and diagnostic obesity notation model assessment-II (D2I) index lie in the latter group. The aim of this study is to clarify possible associations between vitamin B12 status and obesity indices in the pediatric population. The study comprises a total of one hundred and twenty-two children. Thirty-two children were included in the normal body mass index (N-BMI) group. Forty-six and forty-four children constitute groups with morbid obese children without MetS and with MetS, respectively. Informed consent forms and the approval of the institutional ethics committee were obtained. Tables prepared for obesity classification by World Health Organization were used. Metabolic syndrome criteria were defined. Anthropometric and blood pressure measurements were taken. Body mass index, FMI, FFMI, D2I were calculated. Routine laboratory tests were performed. Vitamin B9, B12, D concentrations were determined. Statistical evaluation of the study data was performed. Vitamin B9 and vitamin D levels were reduced in MetS group compared to children with N-BMI (p>0.05). Significantly lower values were observed in vitamin B12 concentrations of MetS group (p<0.01). Upon evaluation of blood pressure as well as triglyceride levels, there exist significant increases in morbid obese children. Significantly decreased concentrations of high density lipoprotein cholesterol were observed. All of the obesity indices and insulin resistance index exhibit increasing tendency with the severity of obesity. Inverse correlations were calculated between vitamin D and insulin resistance index as well as vitamin B12 and D2I in morbid obese groups. In conclusion, a fat-based index, D2I, was the most prominent body index, which shows a strong correlation with vitamin B12 concentrations in the late stage of obesity in children. A negative correlation between these two parameters was a confirmative finding related to the association between vitamin B12 and obesity degree.

Keywords: body mass index, children, D2I index, fat mass index, obesity

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Authors: Spira A., Marabelle A., Kientop D., Moser E., Mumm J.

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Background: Both interleukin-2 (IL-2) and interleukin-10 (IL-10) have been extensively studied for their stimulatory function on T cells and their potential to obtain sustainable tumor control in RCC, melanoma, lung, and pancreatic cancer as monotherapy, as well as combination with PD-1 blockers, radiation, and chemotherapy. While approved, IL-2 retains significant toxicity, preventing its widespread use. The significant efforts undertaken to uncouple IL-2 toxicity from its anti-tumor function have been unsuccessful, and early phase clinical safety observed with PEGylated IL-10 was not met in a blinded Phase 3 trial. Deka Biosciences has engineered a novel molecule coupling wild-type IL-2 to a high affinity variant of Epstein Barr Viral (EBV) IL-10 via a scaffold (scFv) that binds to epidermal growth factor receptors (EGFR). This patented molecule, termed DK210 (EGFR), is retained at high levels within the tumor microenvironment for days after dosing. In addition to overlapping and non-redundant anti-tumor function, IL-10 reduces IL-2 mediated cytokine release syndrome risks and inhibits IL-2 mediated T regulatory cell proliferation. Methods: DK210 (EGFR) is being evaluated in an open-label, dose-escalation (Phase 1) study with 5 (0.025-0.3 mg/kg) monotherapy dose levels and (expansion cohorts) in combination with PD-1 blockers, or radiation or chemotherapy in patients with advanced solid tumors overexpressing EGFR. Key eligibility criteria include 1) confirmed progressive disease on at least one line of systemic treatment, 2) EGFR overexpression or amplification documented in histology reports, 3) at least a 4 week or 5 half-lives window since last treatment, and 4) excluding subjects with long QT syndrome, multiple myeloma, multiple sclerosis, myasthenia gravis or uncontrolled infectious, psychiatric, neurologic, or cancer disease. Plasma and tissue samples will be investigated for pharmacodynamic and predictive biomarkers and genetic signatures associated with IFN-gamma secretion, aiming to select subjects for treatment in Phase 2. Conclusion: Through successful coupling of wild-type IL-2 with a high affinity IL-10 and targeting directly to the tumor microenvironment, DK210 (EGFR) has the potential to harness IL-2 and IL-10’s known anti-cancer promise while reducing immunogenicity and toxicity risks enabling safe concomitant cytokine treatment with other anti-cancer modalities.

Keywords: cytokine, EGFR over expression, interleukine-2, interleukine-10, clinical trial

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Authors: M. A. Akulov, V. O. Zaharov, A. A. Tomskij

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Introduction: Scapulohumeral periarthrosis, resulting as a reaction to mechanical injury of shoulder tendons and muscles, is associated with high incidence of temporal and permanent disability. There is a strong need for investigation of treatment of that patient group. Severe pain leads to limitation of movements range, which result in secondary alterations of joint capsule and ligamentous apparatus. Muscle tension and edema, swelling of fascial and fibrous structures result in nerve and vascular compression in intramuscular and osseo-muscular-fibrous spaces. Botulinum toxin injection leads to decrease of muscle tone, increase of movements range and associated pain alleviation. Study aim: Optimization of rehabilitation process in scapolohumeral periarthrosis using Xeomin. Patients and methods: 40 patients aged 37-56 years with scapulohumeral periarthrosis were evaluated. Patients were divided into two groups according to treatment regimen. The first (main) group included 21 patients, receiving intramuscular Xeomin 150-200 U in the area of brachio-scapular joint and trigger points (inducing motion range limitation and pain). Treatment procedures were combined with physical therapy and osteopathic procedures. The second (control) group included 19 patients, receiving conventional physical therapy and osteopathic procedures. The evaluation and efficacy comparison was carried out using McGill pain questionnaire, Clinical Global Impression scale (CGI), and patient-reported increase of brachio-scapular joint movement range and pain decrease at 1, 3 and 6 months of treatment. Results. The study demonstrated a significant improvement in the main group after one month of treatment, which persisted during months of treatment. At baseline, rank pain index on McGill pain questionnaire was 18,4±4,9 and 17,8±5,1 in the main and control group, respectively (p > 0,05). At 1 month of treatment we observed a significant decrease of pain syndrome (no pain or modest pain) and increase of movement range in angular degrees in the main group (р < 0,05). In the control group significant improvements were observed only on the 3 month of treatment (р < 0,05), but at 6 months of treatment the improvement in pain syndrome and motion range in brachio-scapular joint was significantly smaller, than in the main group. Rank pain index on McGill pain scale was 5,2±1,8 in the main group compared to 12,0±2,6 in the control group (р < 0,05). At 6 months of treatment patients in the first group reported a significant/highly significant improvement of general health on CGI, whereas in the second group most patients reported a minimal improvement. We observed a sustained and persistent improvement of motion range in brachio-scapular joint in the main group. Conclusion: Xeomin injections as a part of rehabilitation process in scapulohumeral periarthrosis lead to reduced time and increased quality of rehabilitation.

Keywords: botulinum toxin, rehabilitation, scapulohumeral periarthrosis

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Authors: P. Asiabi, M. Shahhoseini, R. Favaedi, F. Hassani, N. Nassiri, B. Movaghar, L. Karimian, P. Eftekhariyazdi

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Introduction: Polycystic Ovary Syndrome is a common gynecologic disorder. Many factors including environment, metabolism, hormones and genetics are involved in etiopathogenesis of PCOS. Of genes that have altered expression in human reproductive system disorders are HOX family genes which act as transcription factors in regulation of cell proliferation, differentiation, adhesion and migration. Since recent evidences consider epigenetic factors as causative mechanisms of PCOS, evaluation of association between known epigenetic marks of acetylation/methylation of histone 3 (H3K9ac/me) with regulatory regions of these genes can represent better insight about PCOS. In the current study, cumulus cells (CCs) which have critical roles during folliculogenesis, oocyte maturation, ovulation and fertilization were aimed to monitor epigenetic alterations of HOX genes. Material and methods: CCs were collected from 20 PCOS patients and 20 fertile women (18-36 year) with male infertility problems referred to the Royan Institute to have ICSI under GnRH antagonist protocol. Informed consents were obtained from the participants. Thirty six hours after hCG injection, ovaries were punctured and cumulus oocyte complexes were dissected. Soluble chromatin were extracted from CCs and Chromatin Immune precipitation (ChIP) coupled with Real Time PCR was performed to quantify the epigenetic marks of histone H3K9 acetylation/methylation (H3K9ac/me) on regulatory regions of 15 members of HOX genes from A-D subfamily. Results: Obtained data showed significant increase of H3K9ac epigenetic mark on regulatory regions of HOXA1, HOXB2, HOXC4, HOXD1, HOXD3 and HOXD4 (P < 0.01) and HOXC5 (P < 0.05) and also significant decrease of H3K9ac into regulatory regions of HOXA2, HOXA4, HOXA5, HOXB1 and HOXB5 (P < 0.01) and HOXB3 (P<0.05) in PCOS patients vs. control group. On the other side, there was a significant decrease in incorporation of H3K9me level on regulatory region of HOXA2, HOXA3, HOXA4, HOXA5, HOXB3 and HOXC4 (P≤0.01) and HOXB5 (P < 0.05) in PCOS patients vs. control group. This epigenetic mark (H3K9me2) has significant increase on regulatory region of HOXB1, HOXB2, HOXC5, HOXD1, HOXD3 and HOXD4 (P ≤ 0.01) and HOXB4 (P < 0.05) in patients vs. control group. There were no significant changes in acetylation/methylation levels of H3K9 on regulatory regions of the other studied genes. Conclusion: Current study suggests that epigenetic alterations of HOX genes can be correlated with PCOS and consequently female infertility. This finding might offer additional definitions of PCOS, and eventually provides insight for novel treatments with epidrugs for this disease.

Keywords: epigenetic, HOX genes, PCOS, female infertility

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Authors: Mihir Kothari, Heena Khan, Vivek Rathod

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Assessment of binocular single vision field (BSVF) is traditionally done using a Goldmann perimeter. The measurement of BSVF is important for the management of incomitant strabismus, viz. orbital fractures, thyroid orbitopathy, oculomotor cranial nerve palsies, Duane syndrome etc. In this paper, we describe a new technique for measuring BSVF using a CROM device. Goldmann perimeter is very bulky and expensive (Euro 5000.00 or more) instrument which is 'almost' obsolete from the contemporary ophthalmology practice. Whereas, CROM can be easily made in the DIY (do it yourself) manner for the fraction of the price of the perimeter (only Euro 15.00). Moreover, CROM is useful for the accurate measurement of ocular torticollis vis. nystagmus, paralytic or incomitant squint etc, and it is highly portable.

Keywords: binocular single vision, perimetry, cervical rgen of motion, visual field, binocular single vision field

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Authors: Agnieszka Fryźlewicz, Jowita Kras, Mikołaj Sadowski, Agnieszka Łapczuk-Krygier, Agnieszka Kącka-Zych Radomir Jasiński

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Nicotines are a group of compounds containing conjugated pyridine and pyrrolidine molecular segments. They are widely applied in medicine, pharmacy, and agriculture. Namely as researched treatment of Alzheimer, depression, Parkinson's, Tourette syndrome, general nervous and mental disorders. Furthermore, nicotine itself is used as a stimulant, animal repellent and was widely applied as an insecticide. In our work, we obtained nicotine analogues with possible applications in agriculture. The synthesis employed [3+2] cycloaddition (32CA) reactions, occurring between pirydyl-functionalised nitrones and conjugated nitroalkenes, that allowed us to fully regio- and stereoselectively obtain product. Moreover, cycloaddition reaction realizes rapidly in mild conditions with the full atomic economy, thus fitting into “green chemistry” trends.

Keywords: nicotine, isoxazolidine, 1-3-dipolar cycloaddition, green chemistry, biological and pharmacological activity

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Authors: Muhammad Saqlain, Nazar Abbas Saqib, Muazzam A. Khan

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Heart Failure (HF) has become the major health problem in our society. The prevalence of HF has increased as the patient’s ages and it is the major cause of the high mortality rate in adults. A successful identification and progression of HF can be helpful to reduce the individual and social burden from this syndrome. In this study, we use a real data set of cardiac patients to propose a classification model for the identification and progression of HF. The data set has divided into three age groups, namely young, adult, and old and then each age group have further classified into four classes according to patient’s current physical condition. Contemporary Data Mining classification algorithms have been applied to each individual class of every age group to identify the HF. Decision Tree (DT) gives the highest accuracy of 90% and outperform all other algorithms. Our model accurately diagnoses different stages of HF for each age group and it can be very useful for the early prediction of HF.

Keywords: decision tree, heart failure, data mining, classification model

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Authors: Elly Usman, S. Dante, Diah Purnamasari

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Type 2 diabetes mellitus ( T2DM ) is a syndrome characterized by a state of increased blood sugar levels due to chronic disorders of insulin secretion by pancreatic beta cells and insulin action or a combination of both. The organic cation transporter 1, encoded by the SLC22A1 gene, responsible for the uptake of the antihyperglycemic drug, metformin, in the hepatocyte. We assessed whether a genetic variation in the SLC22A1 gene was associated with the glucose - lowering effect of metformin. Method case study research design. Samples are children with type 2 diabetes mellitus who meet the inclusion criteria. The results proportions SLC22A1 gene polymorphisms in children with diabetes mellitus type 2 amounted to 52.04 % at position 400T/C, there is one heterozygous and one at position 595T/C Conclusion The presence of SLC22A1 gene polymorphisms in children with diabetes mellitus type 2.

Keywords: diabetes Mellitus type 2, metformin, organic cation transporter 1, pharmacogenomics

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Authors: Neda Valizadeh, Soudabeh Shafiee Ardestani, Arvin Najafi

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Objectives: The aim of this study is to evaluate the association of mid-regional pro-atrial natriuretic peptide (MRproANP), procalcitonin (PCT), proendothelin-1 (proET-1) levels with sepsis severity in Emergency ward patients. Materials and Methods: We assessed the predictive value of MRproANP, PCT, copeptin, and proET-1 in early sepsis among patients referring to the emergency ward with a suspected sepsis. Results-132 patients were enrolled in this study. 45 (34%) patients had a final diagnosis of sepsis. A higher percentage of patients with definite sepsis had systemic inflammatory response syndrome (SIRS) criteria at initial visit in comparison with no-sepsis patients (P<0.05) and were admitted to the hospital (P<0.05). PCT levels were higher in sepsis patients [P<0.05]. There was no significant differences for MRproANP or proET-1 in sepsis patients (P=0.47). Conclusion: A combination of SIRS criteria and PCT levels is beneficial for the early sepsis diagnosis in emergency ward patients with a suspicious infection disease.

Keywords: emergency, prolactin, sepsis, biomarkers

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Authors: Kennedy Zinn, Chris Anderson

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Chronic Covid syndrome (CCS) is a condition in which individuals who test positive for Covid-19 experience persistent symptoms after recovering from the virus. CCS affects every organ system, including the central nervous system. Neurological “long-haul” symptoms last from a few weeks to several months and include brain fog, chronic fatigue, dyspnea, mood dysregulation, and headaches. Data suggest that 10-30% of individuals testing positive for Covid-19 develop CCS. Current literature indicates a decreased quality of life in persistent symptoms. CCS is a pervasive and pernicious COVID-19 sequelae. More research is needed to understand risk factors, impact, and possible interventions. Research frequently cites cytokine storming as noteworthy etiology in CCS. Cytokine storming is a malfunctional immune response and facilitates multidimensional interconnected physiological responses. The most prominent responses include abnormal blood flow, hypoxia/hypoxemia, inflammation, and endothelial damage. Neurological impairments and pathogenesis in CCS parallel that of traumatic brain injury (TBI). Both exhibit impairments in memory, cognition, mood, sustained attention, and chronic fatigue. Evidence suggests abnormal blood flow, inflammation, and hypoxemia as shared causal factors. Cytokine storming is also typical in mTBI. The shared characteristics in symptoms and etiology suggest potential parallel routes of investigation that allow for better understanding of CCS. Research on the effect of altitude in mTBI varies. Literature finds decreased rates of concussions at higher altitudes. Other studies suggest that at a higher altitude, pre-existing mTBI symptoms are exacerbated. This may mean that in CCS, the geographical location where individuals live and the location where individuals experienced acute Covid-19 symptoms may influence the severity and risk of developing CCS. It also suggests that clinics which treat mTBI patients could also provide benefits for those with CCS. This study aims to examine the relationships between altitude and CCS as a risk factor and investigate the longevity and severity of symptoms in different altitudes. Existing patient data from a concussion clinic using fMRI scans and self-reported symptoms will be used for approximately 30 individuals with CCS symptoms. The association between acclimated altitude and CCS severity will be analyzed. Patients will be classified into low, medium, and high altitude groups and compared for differences on fMRI severity scores and self-reported measures. It is anticipated that individuals living in lower altitudes are at higher risk of developing more severe neuropsychological symptoms in CCS. It is also anticipated that a treatment approach for mTBI will also be beneficial to those with CCS.

Keywords: altitude, chronic covid syndrome, concussion, covid brain, EPIC treatment, fMRI, traumatic brain injury

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Authors: Giulia Bonaldo, Alberto Vaccheri, Ottavio D'Annibali, Domenico Motola

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The Human Papilloma Virus (HPV) was shown to be the cause of different types of carcinomas, first of all of the cervical intraepithelial neoplasia. Since the early 80s to today, thanks first to the preventive screening campaigns (pap-test) and following to the introduction of HPV vaccines on the market; the number of new cases of cervical cancer has decreased significantly. The HPV vaccines currently approved are three: Cervarix® (HPV2 - virus type: 16 and 18), Gardasil® (HPV4 - 6, 11, 16, 18) and Gardasil 9® (HPV9 - 6, 11, 16, 18, 31, 33, 45, 52, 58), which all protect against the two high-risk HPVs (6, 11) that are mainly involved in cervical cancers. Despite the remarkable effectiveness of these vaccines has been demonstrated, in the recent years, there have been many complaints about their risk-benefit profile due to Adverse Events Following Immunization (AEFI). The purpose of this study is to provide a support about the ongoing discussion on the safety profile of HPV vaccines based on real life data deriving from spontaneous reports of suspected AEFIs collected in the Vaccine Adverse Events Reporting System (VAERS). VAERS is a freely-available national vaccine safety surveillance database of AEFI, co-administered by the Centers for Disease Control and Prevention (CDC) and Food and Drug Administration (FDA). We collected all the reports between January 2007 to December 2017 related to the HPV vaccines with a brand name (HPV2, HPV4, HPV9) or without (HPVX). A disproportionality analysis using Reporting Odds Ratio (ROR) with 95% confidence interval and p value ≤ 0.05 was performed. Over the 10-year period, 54889 reports of AEFI related to HPV vaccines reported in VAERS, corresponding to 224863 vaccine-event pairs, were retrieved. The highest number of reports was related to Gardasil (n = 42244), followed by Gardasil 9 (7212) and Cervarix (3904). The brand name of the HPV vaccine was not reported in 1529 cases. The two events more frequently reported and statistically significant for each vaccine were: dizziness (n = 5053) ROR = 1.28 (CI95% 1.24 – 1.31) and syncope (4808) ROR = 1.21 (1.17 – 1.25) for Gardasil. For Gardasil 9, injection site pain (305) ROR = 1.40 (1.25 – 1.57) and injection site erythema (297) ROR = 1.88 (1.67 – 2.10) and for Cervarix, headache (672) ROR = 1.14 (1.06 – 1.23) and loss of consciousness (528) ROR = 1.71 (1.57 – 1.87). In total, we collected 406 reports of death and 2461 cases of permanent disability in the ten-year period. The events consisting of incorrect vaccine storage or incorrect administration were not considered. The AEFI analysis showed that the most frequently reported events are non-serious and listed in the corresponding SmPCs. In addition to these, potential safety signals arose regarding less frequent and severe AEFIs that would deserve further investigation. This already happened with the referral of the European Medicines Agency (EMA) for the adverse events POTS (Postural Orthostatic Tachycardia Syndrome) and CRPS (Complex Regional Pain Syndrome) associated with anti-papillomavirus vaccines.

Keywords: adverse drug reactions, pharmacovigilance, safety, vaccines

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Authors: R. P. Hewawasam, M. H. A. D. de Silva, M. A. G. Iresha

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Obesity is associated with an increased risk of developing insulin resistance. Insulin resistance often progresses to type-2 diabetes mellitus and is linked to a wide variety of other pathophysiological features including hypertension, hyperlipidemia, atherosclerosis (metabolic syndrome) and polycystic ovarian syndrome. Macrosomia is common in infants born to not only women with gestational diabetes mellitus but also non-diabetic obese women. During the past two decades, obesity in children and adolescents has risen significantly in Asian populations including Sri Lanka. There is increasing evidence to believe that infants who are born large for gestational age (LGA) are more likely to be obese in childhood. It is also established from previous studies that Asian populations have higher percentage body fat at a lower body mass index compared to Caucasians. High leptin levels in cord blood have been reported to correlate with fetal adiposity at birth. Previous studies have also shown that cord blood C-peptide and insulin levels are significantly and positively correlated with birth weight. Therefore, the objective of this preliminary study was to determine the relationship between parameters of fetal insulin resistance such as leptin, C-peptide and insulin and the birth weight of the newborn in a study population in Southern Sri Lanka. Umbilical cord blood was collected from 90 newborns and the concentration of insulin, leptin, and C-peptide were measured by ELISA technique. Birth weight, length, occipital frontal, chest, hip and calf circumferences of newborns were measured and characteristics of the mother such as age, height, weight before pregnancy and weight gain were collected. The relationship between insulin, leptin, C-peptide, and anthropometrics were assessed by Pearson’s correlation while the Mann-Whitney U test was used to assess the differences in cord blood leptin, C-peptide, and insulin levels between groups. A significant difference (p < 0.001) was observed between the insulin levels of infants born LGA (18.73 ± 0.64 µlU/ml) and AGA (13.08 ± 0.43 µlU/ml). Consistently, A significant increase in concentration (p < 0.001) was observed in C-peptide levels of infants born LGA (9.32 ± 0.77 ng/ml) compared to AGA (5.44 ± 0.19 ng/ml). Cord blood leptin concentration of LGA infants (12.67 ng/mL ± 1.62) was significantly higher (p < 0.001) compared to the AGA infants (7.10 ng/mL ± 0.97). Significant positive correlations (p < 0.05) were observed among cord leptin levels and the birth weight, pre-pregnancy maternal weight and BMI between the infants of AGA and LGA. Consistently, a significant positive correlation (p < 0.05) was observed between the birth weight and the C peptide concentration. Significantly high concentrations of leptin, C-peptide and insulin levels in the cord blood of LGA infants suggest that they may be involved in regulating fetal growth. Although previous studies suggest comparatively high levels of body fat in the Asian population, values obtained in this study are not significantly different from values previously reported from Caucasian populations. According to this preliminary study, maternal pre-pregnancy BMI and weight may contribute as significant indicators of cord blood parameters of insulin resistance and possibly the birth weight of the newborn.

Keywords: large for gestational age, leptin, C-peptide, insulin

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Authors: Mustafa Cam, Nedim Ongun, Ufuk Kutluana

Abstract:

Introduction: Restless LegsSyndrome (RLS) is a common, under-recognized disorder disrupts sleep and diminishes quality of life (1). The most common conditions highly associated with RLS include renalfailure, iron and folic acid deficiency, peripheral neuropathy, pregnancy, celiacdisease, Crohn’sdiseaseandrarelymalignancy (2).Despite a clear relation between low peripheral iron and increased prevalence and severity of RLS, the prevalence and clinical significance of RLS in iron-deficientanemic populations is unknown (2). We report here a case of RLS due to iron deficiency in the setting of neuroendocrinetumor. Report of Case: A 35 year-old man was referred to our clinic with general weakness, weight loss (10 kg in 2 months)and 2-month history of uncomfortable sensations in his legs with urge to move, partially relieved by movement. The symptoms were presented very day, worsening in the evening; the discomfort forced the patient to getup and walk around at night. RLS was severe, with a score of 22 at the International RLS ratingscale. The patient had no past medical history. The patient underwent a complete set of blood analyses and the following ab normal values were found (normal limitswithinbrackets): hemoglobin 9.9 g/dl (14-18), MCV 70 fL (80-94), ferritin 3,5 ng/mL (13-150). Brain and spinemagnetic resonance imaging was normal. The patient consultated with gastroenterology clinic and gastointestinal systemendoscopy was performed for theetiology of the iron deficiency anemia. After the gastricbiopsy, results allowed us to reach the diagnosis of neuroen docrine tumor and the patient referred to oncology clinic. Discussion: The first important consideration from this case report is that the patient was referred to our clinic because of his severe RLS symptoms dramatically reducing his quality of life. However, our clinical study clearly demonstrated that RLS was not the primary disease. Considering the information available for this patient, we believe that the most likely possibility is that RLS was secondary to iron deficiency, a very well-known and established cause of RLS in theliterature (3,4). Neuroendocrine tumors (NETs) are rare epithelial neoplasms with neuroendocrine differentiation that most commonly originate in the lungs and gastrointestinal tract (5). NETs vary widely in their clinical presentation; symptoms are often nonspecific and can be mistaken for those of other more common conditions (6). 50% of patients with reported disease stage have either regional or distant metastases at diagnosis (7). Accurate and earlier NET diagnosis is the first step in shortening the time to optimal care and improved outcomes for patients (8). The most important message from this case report is that RLS symptoms can sometimes be thesign of a life-threatening condition. Conclusion: Careful and complete collection of clinical and laboratory data should be carried out in RLS patients. Inparticular, if RLS onset coincides with weight loss and iron deficieny anemia, gastricendos copy should be performed. It is known about that malignancy is a rare etiology in RLS patients and to our knowledge; it is the first case with neuro endocrine tumor presenting with RLS.

Keywords: neurology, neuroendocrine tumor, restless legs syndrome, sleep

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Authors: R. Komsa-Penkova, G. Golemanov, G. Georgieva, K. Popovski, N. Slavov, P. Ivanov, K. Kovacheva, S. Rathee, E. Konova, A. Blajev

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Leptin and PAI-1 are important cytokines and may play a role in the regulation of PCOS development. PCOS is frequently associated with obesity, high BMI index and consequently with increased risk of metabolic disorders. The aim of the present study was to evaluate PAI-1 levels, genetic influence of the carriage of 675 4G/5G polymorphism in PAI-1 gene and leptin as a marker of obesity in the development of PCOS. Methods: Genotyping in 84 patients with PCOS and PCO and 100 healthy control subjects to detect single nucleotide deletion 675 G in the promoter of PAI-1 gene. The present study provides evidence that SNP 4G in the PAI-1 gene is associated with early pregnancy losses in patients with polycystosis. Further to this, there is a correlation between leptin levels, PAI-1 levels and BMI in the patients with PCOS, which confirms the role of obesity as a risk factor for PCOS.

Keywords: carriage of 675 4G/5G polymorphism, PCOS, early pregnancy losses, PAI-1 gene

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Authors: Natcha Lueangapapong, Chariya Chuthapisith, Lunliya Thampratankul

Abstract:

Background: There is a need to find an appropriate tool to help healthcare providers determine sleep problems in children for early diagnosis and management. The Japanese Sleep Questionnaire for Preschoolers (JSQ-P) is a parent-reported sleep questionnaire that has good psychometric properties and can be used in the context of Asian culture, which is likely suitable for Thai children. Objectives: This study aimed to translate and validate the Japanese Sleep Questionnaire for Preschoolers (JSQ-P) into a Thai version and to evaluate factors associated with sleep disorders in preschoolers. Methods: After approval by the original developer, the cross-cultural adaptation process of JSQ-P was performed, including forward translation, reconciliation, backward translation, and final approval of the Thai version of JSQ-P (TH-JSQ-P) by the original creator. This study was conducted between March 2021 and February 2022. The TH-JSQ-P was completed by 2,613 guardians whose children were aged 2-6 years twice in 10-14 days to assess its reliability and validity. Content validity was measured by an index of item-objective congruence (IOC) and a content validity index (CVI). Face validity, content validity, structural validity, construct validity (discriminant validity), criterion validity and predictive validity were assessed. The sensitivity and specificity of the TH-JSQ-P were also measured by using a total JSQ-P score cutoff point 84, recommended by the original JSQ-P and each subscale score among the clinical samples of obstructive sleep apnea syndrome. Results: Internal consistency reliability, evaluated by Cronbach’s α coefficient, showed acceptable reliability in all subscales of JSQ-P. It also had good test-retest reliability, as the intraclass correlation coefficient (ICC) for all items ranged between 0.42-0.84. The content validity was acceptable. For structural validity, our results indicated that the final factor solution for the Th-JSQ-P was comparable to the original JSQ-P. For construct validity, age group was one of the clinical parameters associated with some sleep problems. In detail, parasomnias, insomnia, daytime excessive sleepiness and sleep habits significantly decreased when the children got older; on the other hand, insufficient sleep was significantly increased with age. For criterion validity, all subscales showed a correlation with the Epworth Sleepiness Scale (r = -0.049-0.349). In predictive validity, the Epworth Sleepiness Scale was significantly a strong factor that correlated to sleep problems in all subscales of JSQ-P except in the subscale of sleep habit. The sensitivity and specificity of the total JSQ-P score were 0.72 and 0.66, respectively. Conclusion: The Thai version of JSQ-P has good internal consistency reliability and test-retest reliability. It passed 6 validity tests, and this can be used to evaluate sleep problems in preschool children in Thailand. Furthermore, it has satisfactory general psychometric properties and good reliability and validity. The data collected in examining the sensitivity of the Thai version revealed that the JSQ-P could detect differences in sleep problems among children with obstructive sleep apnea syndrome. This confirmed that the measure is sensitive and can be used to discriminate sleep problems among different children.

Keywords: preschooler, questionnaire, validation, Thai version

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Authors: Jenny Fairthorne, Yuka Mori, Helen Leonard

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Background: Primary care-givers of children with autism spectrum disorder (ASD) or intellectual disability (ID) have poorer health and quality of life (QoL) than primary care-givers (hereafter referred to as just care-givers) of typically developing children. We aimed to review original research which described factors impacting the health of care-givers of children with ASD or ID and to discuss how these factors might influence care-giver health. Methods: We searched Web of Knowledge, Medline, Scopus and Google Scholar using selections of words from each of three groups. The first comprised terms associated with ASD and ID and included autism, pervasive development disorder, intellectual disability, mental retardation, disability, disabled, Down and Asperger. The second included terms related to health such as depression, physical, mental, psychiatric, psychological and well-being. The third was terms related to care-givers such as mother, parent and care-giver. We included an original paper in our review if it was published between 1st January 1990 and 31st December, 2016, described original research in a peer-reviewed journal and was written in English. Additional criteria were that the research used a study population of 15 persons or more; described a risk or protective factor for the health of care-givers of a child with ASD, ID or a sub-type (such as ASD with ID or Down syndrome). Using previous research, we developed a simple and objective five-level tool to assess the strength of evidence provided by the reviewed papers. Results: We retained 33 papers. Factors impacting primary care-giver health included child behaviour, level of support, socio-economic status (SES) and diagnostic issues. Challenging child behaviour, the most commonly identified risk factor for poorer care-giver health and QoL was reported in ten of the studies. A higher level of support was associated with improved care-giver health and QoL. For example, substantial evidence indicated that family support reduced care-giver burden in families with a child with ASD and that family and neighbourhood support was associated with improved care-giver mental health. Higher socio-economic status (SES) was a protective factor for care-giver health and particularly maternal health. Diagnostic uncertainty and an unclear prognosis are factors which can cause the greatest concern to care-givers of children with ASD and those for whom a cause of their child’s ID has not been identified. We explain how each of these factors might impact caregiver health and how they might act differentially in care-givers of children with different types of ASD or ID (such as Down syndrome and ASD without ID). Conclusion: Care-givers of children with ASD may be more likely to experience many risk factors and less likely to experience the protective factors we identified for poorer mental health. Interventions to reduce risk factors and increase protective factors could pave the way for improved care-giver health. For example, workshops to train care-givers to better manage challenging child behaviours and earlier diagnosis of ASD (and particularly ASD without ID) would seem likely to improve care-giver well-being. Similarly, helping to expand support networks might reduce care-giver burden and stress leading to improved health.

Keywords: autism, caregivers, health, intellectual disability, mothers, review

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Authors: Moushira Zaki, Wafaa Ezzat, Yasser Elhosary, Omnia Saleh

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Nonalcoholic fatty liver disease (NAFLD) has increased in conjunction with obesity. The accuracy of risk factors for detecting NAFLD in obese adolescents has not undergone a formal evaluation. The aim of this study was to evaluate predictors of NAFLD among Egyptian female obese adolescents. The study included 162 obese female adolescents. All were subjected to anthropometry, biochemical analysis and abdominal ultrasongraphic assessment. Metabolic syndrome (MS) was diagnosed according to the IDF criteria. Significant association between presence of MS and NAFLD was observed. Obese adolescents with NAFLD had significantly higher levels of ALT, triglycerides, fasting glucose, insulin, blood pressure and HOMA-IR, whereas decreased HDL-C levels as compared with obese cases without NAFLD. Receiver–operating characteristic (ROC) curve analysis shows that ALT is a sensitive predictor for NAFLD, confirming that ALT can be used as a marker of NAFLD.

Keywords: obesity, NAFLD, predictors, adolescents, Egyptians, risk factors, prevalence

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Authors: Sergei Kosarev

Abstract:

Wrong treatment tactics for hand and wrist sport-related injuries can lead to the inability to play sports in the future. It is especially important for professional athletes. The members of the Russian Olympic Team are treated in our hospital -Federal Clinical Research Center (Moscow). For their treatment, we use minimally invasive methods such as wrist arthroscopy and also orthobiologics procedures. In 2022 we had cases with scaphoid fracture and TFCC injuries. In all the cases, we were using the arthroscopy technic for treatment. The scaphoid fracture was fixed by K-wires with free bone grafting. For TFCC injures we used transossal sutures. Rehabilitation started the next day after surgery. Rehabilitation included hand therapy and physiotherapy. All athletes returned to the sport after 8-12 weeks after surgery. One of them had pain in the wrist after 12 weeks after surgery, not more than 4 point VAS. Pain syndrome was blocked after 2 PRP injections in the ulnar side of the wrist.

Keywords: sport trauma, wrist arthroscopy, wrist pain, scaphoid fracture

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Authors: Mustafa M. Donma, Orkide Donma

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Cardiovascular pathology is one of the expected consequences of excessive fat gain. The role of zinc in thyroid hormone metabolism is an important matter. The concentrations of both thyroid stimulating hormone (TSH) and zinc are subject to variation in obese individuals. Zinc exhibits protective effects on cardiovascular health and is inversely correlated with cardiovascular markers in childhood obesity. The association between subclinical hypothyroidism (SCHT) and metabolic disorders is under investigation due to its clinical importance. Underactive thyroid gland causes high TSH levels. Subclinical hypothyroidism is defined as the elevated serum TSH levels in the presence of normal free thyroxin (T4) concentrations. The aim of this study was to evaluate the associations between TSH levels and zinc concentrations in morbid obese (MO) children exhibiting SCHT. The possibility of using the probable association between these parameters was also evaluated for the discrimination of metabolic syndrome positive (MetS+) and metabolic syndrome negative (MetS-) groups. Forty-two children were present in each group. Informed consent forms were obtained. Institutional Ethics Committee approved the study protocol. Tables prepared by World Health Organization were used for the definition of MO children. Children, whose age- and sex-dependent body mass index percentile values were above 99, were defined as MO. Children with at least two MetS components were included in MOMetS+ group. Elevated systolic/diastolic blood pressure values, increased fasting blood glucose, triglycerides (TRG)/decreased high density lipoprotein-cholesterol (HDL-C) concentrations in addition to central obesity were listed as MetS components. Anthropometric measures were recorded. Routine biochemical analyses were performed. Thirteen and fifteen children had SCHT in MOMetS- and MOMetS+ groups, respectively. Statistical analyses were performed. p<0.05 was accepted as statistically significant. In MOMetS- and MOMetS+ groups, TSH levels were 4.1±2.9 mU/L and 4.6±3.1 mU/L, respectively. Corresponding values for SCHT cases in these groups were 7.3±3.1 mU/L and 8.0±2.7 mU/L. Free T4 levels were within normal limits. Zinc concentrations were negatively correlated with TSH levels in both groups. The significant negative correlation calculated in MOMetS+ group (r= -0.909; p<0.001) was much stronger than that found in MOMetS- group (r= -0.706; p<0.05). This strong correlation (r= -0.909; p<0.001) calculated for cases with SCHT in MOMetS+ group was much lower (r= -0.793; p<0.001) when all MOMetS+ cases were considered. Zinc is closely related to T4 and TSH therefore, it participates in thyroid hormone metabolism. Since thyroid hormones are required for zinc absorption, hypothyroidism can lead to zinc deficiency. The presence of strong correlations between TSH and zinc in SCHT cases found in both MOMetS- and MOMetS+ groups pointed out that MO children were under the threat of cardiovascular pathologies. The detection of the much stronger correlation in MOMetS+ group in comparison with the correlation found in MOMetS- group was the indicator of greater cardiovascular risk due to the presence of MetS. In MOMetS+ group, correlation in SCHT cases found higher than correlation calculated for all cases confirmed much higher cardiovascular risk due to the contribution of SCHT.

Keywords: cardiovascular risk, children, morbid obesity, subclinical hypothyroidism, zinc

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Authors: Ehsan Atefi, Michael Grigware

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Respiratory failure secondary to surfactant deficiency resulting from respiratory distress syndrome is considered one major cause of morbidity in preterm infants. Surfactant replacement treatment (SRT) is considered an effective treatment for this disease. Here, we introduce an AI-mediated approach for estimating the distribution of surfactant in the lung airway of a newborn infant during SRT. Our approach implements machine learning to precisely estimate the splitting ratio of a liquid drop during bifurcation at different injection velocities and patient orientations. This technique can be used to calculate the surfactant residue remaining on the airway wall during the surfactant injection process. Our model works by minimizing the pressure drop difference between the two airway branches at each generation, subject to mass and momentum conservation. Our platform can be used to generate feedback for immediately adjusting the velocity of injection and patient orientation during SRT.

Keywords: respiratory failure, surfactant deficiency, surfactant replacement, machine learning

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Authors: Neha Tiwari

Abstract:

Rights are prerequisite for individuals to pursue their aims and enrich themselves. Laski has said rights are, ‘conditions of social life without which no man can seek himself at his best.’ However with superior technology, rights of many individuals are at stake as well. One such sufferer is the babies born out of the practice of commercial surrogacy. Commercial surrogacy has emerged as the most viable option for the childless couples. The practice has garnered lot of debate in both academia and media. Some argue for a complete ban and some for strict rules and regulation. Most of the time the debate is regarding the rights of the surrogate, something which we cannot ignore. Equally important are the rights of the children born out of such arrangements. However, not much attention is being paid to them. Recently, a controversy emerged when a surrogate gave birth to twins. One of the babies, Gammy born with down syndrome was left behind by the couple. Gammy could die because his poor Thai surrogate mother may not be able to pay for his treatment. Even if he survives, he will never know his twin sister as her identity would never be disclosed. This is just one of many such cases where the future of such babies is being played with. If the rights of these children are not taken care of many of them will have to bear the brunt of society's ignorance and perhaps live with a scar which won't heal in their lifetime.

Keywords: babies, commercial surrogacy, rights, technology

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Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

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Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

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Authors: Jason M. Hegenauer, Nicholas Fucci

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In the late 1990s, a major deinstitutionalization movement of elderly patients took place, since which, the design of long-term care facilities has not been adequately analyzed in the United States. Over the course of the last 25 years, major innovations in construction methods, technology, and medicine have been developed, drastically changing the landscape of healthcare architecture. In light of recent events, and the expected increase in elderly populations with the aging of the baby-boomer generation, it is evident that reconsideration of these facilities is essential for the proper care of aging populations. The global response has been effective in stifling this pandemic; however, widespread disease still poses an imminent threat to the human race. Having witnessed the devastation Covid-19 has reaped throughout nursing homes and long-term care facilities, it is evident that the current strategies for protecting our most vulnerable populations are not enough. Light renovation of existing facilities and previously overlooked considerations for new construction projects can drastically lower the risk at nursing homes and long-term care facilities. A reconfigured entry sequence supplements several of the features which have been long-standing essentials of the design of these facilities. This research focuses on several aspects identified as needing improvement, including indoor environment quality, security measures incorporated into healthcare architecture and design, and architectural mitigation strategies for sick building syndrome. The results of this study have been compiled as 'best practices' for the design of future healthcare construction projects focused on the health, safety, and quality of life of the residents of these facilities. These design strategies, which can easily be implemented through renovation of existing facilities and new construction projects, minimize risk of infection and spread of disease while allowing routine functions to continue with minimal impact, should the need for future lockdowns arise. Through the current lockdown procedures, which were implemented during the Covid-19 pandemic, isolation of residents has caused great unrest and worry for family members and friends as they are cut off from their loved ones. At this time, data is still being reported, leaving infection and death rates inconclusive; however, recent projections in some states list long-term care facility deaths as high as 60% of all deaths in the state. The population of these facilities consists of residents who are elderly, immunocompromised, and have underlying chronic medical conditions. According to the Centers for Disease Control, these populations are particularly susceptible to infection and serious illness. The obligation to protect our most vulnerable population cannot be overlooked, and the harsh measures recently taken as a response to the Covid-19 pandemic prove that the design strategies currently utilized for doing so are inadequate.

Keywords: building security, healthcare architecture and design, indoor environment quality, new construction, sick building syndrome, renovation

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Authors: Nanhee Cho, Eugene Han, Hanbyul Kim, Hochan Cho

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Pre-diabetes includes impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and there is a strong probability that pre-diabetes will lead to diabetes mellitus (DM). Serum fibroblast growth factor 21 (FGF-21) is known to be increased as a compensatory response to metabolic imbalance under conditions such as obesity, metabolic syndrome, and DM. This study aims to identify the relationship of serum FGF-21 with pre-diabetes, and with biomarkers of related metabolic diseases. Fifty five Korea adult patients participated in a cohort study from June 2012 to December 2015. The analysis revealed that BMI, FBS levels, and serum FGF-21 levels were significantly higher in the IFG group compared to those in the normal group. A multiple regression analysis was conduted on the correlations of serum FGF-21 levels with BMI, and FBS levels, and the result did not show statistical significance. In conclusion, our results revealed that serum FGF-21 level serve as a marker to predict IFG.

Keywords: cytokine, fibroblast growth factor 21, impaired fasting glucose, prediabetes

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Authors: Sachin Singh, Thomas Penzel, Dinesh Nandan

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Accurate identification of Sleep Apnea Hypopnea Syndrom Diagnosis is difficult problem for human expert because of variability among persons and unwanted noise. This paper proposes the diagonosis of Sleep Apnea Hypopnea Syndrome (SAHS) using airflow, ECG, Pulse and SaO2 signals. The features of each type of these signals are extracted using statistical methods and ANN learning methods. These extracted features are used to approximate the patient's Apnea Hypopnea Index(AHI) using sample signals in model. Advance signal processing is also applied to snore sound signal to locate snore event and SaO2 signal is used to support whether determined snore event is true or noise. Finally, Apnea Hypopnea Index (AHI) event is calculated as per true snore event detected. Experiment results shows that the sensitivity can reach up to 96% and specificity to 96% as AHI greater than equal to 5.

Keywords: neural network, AHI, statistical methods, autoregressive models

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Authors: Izabela P. Vatanabe, Rafaela Peron, Patricia Manzine, Marcia R. Cominetti

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Introduction: Considering the increase in life expectancy of world population, there is an emerging concern in health services to allocate better care and care to elderly, through promotion, prevention and treatment of health. It has been observed that frailty syndrome is prevalent in elderly people worldwide and this complex and heterogeneous clinical syndrome consist of the presence of physical frailty associated with cognitive dysfunction, though in absence of dementia. This can be characterized by exhaustion, unintentional weight loss, decreased walking speed, weakness and low level of physical activity, in addition, each of these symptoms may be a predictor of adverse outcomes such as hospitalization, falls, functional decline, institutionalization, and death. Cognitive frailty is a recent concept in literature, which is defined as the presence of physical frailty associated with mild cognitive impairment (MCI) however in absence of dementia. This new concept has been considered as a subtype of frailty, which along with aging process and its interaction with physical frailty, accelerates functional declines and can result in poor quality of life of the elderly. MCI represents a risk factor for Alzheimer's disease (AD) in view of high conversion rate for this disease. Comorbidities and physical frailty are frequently found in AD patients and are closely related to heterogeneity and clinical manifestations of the disease. The decreased platelets ADAM10 levels in AD patients, compared to cognitively healthy subjects, matched by sex, age and education. Objective: Based on these previous results, this study aims to evaluate whether ADAM10 platelet levels of could act as a biomarker of cognitive frailty. Methods: The study was approved by Ethics Committee of Federal University of São Carlos (UFSCar) and conducted in the municipality of São Carlos, headquarters of Federal University of São Carlos (UFSCar). Biological samples of subjects were collected, analyzed and then stored in a biorepository. ADAM10 platelet levels were analyzed by western blotting technique in subjects with MCI and compared to subjects without cognitive impairment, both with and without presence of frailty. Statistical tests of association, regression and diagnostic accuracy were performed. Results: The results have shown that ADAM10/β-actin ratio is decreased in elderly individuals with cognitive frailty compared to non-frail and cognitively healthy controls. Previous studies performed by this research group, already mentioned above, demonstrated that this reduction is still higher in AD patients. Therefore, the ADAM10/β-actin ratio appears to be a potential biomarker for cognitive frailty. The results bring important contributions to an accurate diagnosis of cognitive frailty from the perspective of ADAM10 as a biomarker for this condition, however, more experiments are being conducted, using a high number of subjects, and will help to understand the role of ADAM10 as biomarker of cognitive frailty and contribute to the implementation of tools that work in the diagnosis of cognitive frailty. Such tools can be used in public policies for the diagnosis of cognitive frailty in the elderly, resulting in a more adequate planning for health teams and better quality of life for the elderly.

Keywords: ADAM10, biomarkers, cognitive frailty, elderly

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