Search results for: frailty syndrome

Authors: Vergeena Varghese, G. Gajalakshmi, Jayarajini Vasanth

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The present study deals with the indication of prevalence of dry eye and evaluates environmental risk factors attributed to dry eye in different occupational sectors. 240 subjects above 20 years and below 45 years of age were screened for dry eye. Mcmonnies dry eye questionnaire based history and Schirmer’s test were used to diagnose dry eye. For Schirmer’s test Whatman strip and paracaine drop used as an anesthetic. Subject’s demographics include age, sex, smoking, alcoholism, occupation history and working environment. Out of a total of 240 subjects, 52 subjects were positive for dry eye syndrome (21.7%). The highest prevalence of dry eye syndrome in software sector was 14subjects (26.9%) out of a total of 40 subjects. In the construction sector, the prevalence of dry eye syndrome had 12 subjects (23.1%) out of 40 subjects and 9 subjects (17.3%) out of 40 subjects in agriculture sector. 7 subjects (13.5%) who had dry eye out of 40 subjects in the transport sector and in industrial 6 subjects (11.5%). In a normal sector, this was taken as control group had dry eye in 4 subjects (7.7%) out of 40 subjects. We also found the prevalence of dry eye in OS was higher than OD. Dry eye is a most common ocular condition. The highest prevalence of dry eye syndrome in software sector was 14 members than other sector. There was a significant correlation between environmental and occupational factors to cause dry eye. Excessive exposure to sunlight, wind, high temperature, and air pollution, electromagnetic radiation are the factors affect the tear film and ocular surface causing the dry eye syndrome.

Keywords: DES – dry eye syndrome, Mcmonnies dry eye questionnaire, schirmer’s test, whatman vstrip

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Authors: Lee Soo-Kyoung, Kim Young-Su

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This study established a network related to metabolic syndrome intervention by conducting a social network analysis of titles, keywords, and abstracts, and it identified emerging topics of research. It visualized an interconnection between critical keywords and investigated their frequency of appearance to construe the trends in metabolic syndrome intervention measures used in studies conducted over 38 years (1979–2017). It examined a collection of keywords from 8,285 studies using text rank analyzer, NetMiner 4.0. The analysis revealed 5 groups of newly emerging keywords in the research. By examining the relationship between keywords with reference to their betweenness centrality, the following clusters were identified. Thus if new researchers refer to existing trends to establish the subject of their study and the direction of the development of future research on metabolic syndrome intervention can be predicted.

Keywords: intervention, metabolic syndrome, network analysis, research, the trend

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Authors: Rim Frikha, Nouha Bouayed Abdelmoula, Afifa Sellami, Salima Daoud, Tarek Rebai

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Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion of the cervical spine resulting from faulty segmentation along the embryo's developing axis. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated elucidation of the genetic etiology and management of the syndrome. We report a case of an isolated Klippel-Feil Syndrome with C5-C6 fusion on the cervical spine. It‘s the rarest form of congenital fused cervical vertebrae which is predisposed to the risk of spinal cord injury and neurologic problems. The aim of this paper was to review clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil Syndrome. We insist in comprehensive evaluation and delineation of diagnostic and prognostic classes.

Keywords: Klippel–Feil anomaly, genetic, clinical heterogeneity, radiographic abnormalities

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Authors: Bremmy Laksono, Nurul Qomarilla, Riksa Parikrama, Dyan K. Nugrahaeni, Willyanti Soewondo, Dadang S. H. Effendi, Eriska Rianti, Arlette S. Setiawan, Ine Sasmita, Risti S. Primanti, Erna Kurnikasari, Yunia Sribudiani

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Down syndrome is a chromosomal abnormality of chromosome 21 which can appear in man or woman. Maternal age and paternal age, history of radiation are the common risk factors. This study was conducted to observe risk factors which related as causes of Down syndrome. In this case control study using purposive sampling technique, 84 respondents were chosen from Cell Culture and Cytogenetics Laboratory patients in Faculty of Medicine, Universitas Padjadjaran, Indonesia. They were used as study samples and divided into 42 Down syndrome cases and 42 control respondents. This study used univariate and bivariate analysis (chi-square). Samples population were West Java residents, the biggest province in Indonesia in number of population. The results showed maternal age, paternal age, history of radiation exposure and family history were not significantly related to Down syndrome baby. Moreover, all of those factors also did not contribute to the risk of having a child with Down syndrome in patients at Cell Culture and Cytogenetics Laboratory, Faculty of Medicine, Universitas Padjadjaran. Therefore, we should investigate other risk factors of Down syndrome in West Java population.

Keywords: down syndrome, family history, maternal age, paternal age, risk factor

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Authors: Parul Garg

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Bouveret Syndrome is a rare presentation described as Gastric Outlet Obstruction secondary to Gallstone Ileus. Here we describe the 3-year progression of disease from cholelithiasis to gallstone ileus with relevant imaging findings. The patient was treated under an Upper Gastrointestinal Surgery service with surgical intervention in the form of a laparoscopic assisted procedure with midline laparotomy. She recovered well and was discharged 1 week post operatively. No complications occurred.

Keywords: Cholelithiasis, Bouveret syndrome, Gallstone Ileus, gastric outlet obstruction

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Authors: Birendra Kumar Jha, Mingma L. Sherpa, Binod Kumar Dahal

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Background: The metabolic syndrome is emerging as a major public health concern in the world. Urbanization, surplus energy uptake, compounded by decreased physical activities, and increasing obesity are the major factors contributing to the epidemic of metabolic syndrome worldwide. However, prevalence of metabolic syndrome and its risk factors are little studied in Terai region of Nepal. The objectives of this research were to estimate the prevalence and to identify the risk factors of metabolic syndrome among adults in Terai region of Nepal. Method: We used a community based cross sectional study design. A total of 225 adults (age: 18 to 80 years) were selected from three district of Terai region of Nepal using cluster sampling by camp approach. IDF criteria (central obesity with any two of following four factors: triglycerides ≥ 150 mg/dl or specific treatment for lipid abnormality, reduced HDL, raised blood pressure and raised fasting plasma glucose or previously diagnosed type 2 diabetes) were used to assess metabolic syndrome. Interview, physical and clinical examination, measurement of fasting blood glucose and lipid profile were conducted for all participants. Chi-square test and multivariable logistic regression were employed to explore the risk factors of metabolic syndrome. Result: The overall prevalence of metabolic syndrome was 70.7%. Hypertension, increased fasting blood sugar, increased triglycerides and decreased HDL were observed in 50.7%, 32.4%, 41.8% and 79.1% of the subjects respectively. Socio-economic and behavioral risk factors significantly associated with metabolic syndrome were gender male (OR=2.56, 955 CI: 1.42-4.63; p=0.002), in service or retired from service (OR=3.72, 95% CI: 1.72-8.03; p=0.001) and smoking (OR= 4.10, 95% CI: 1.19-14.07; p=0.016). Conclusion: Higher prevalence of Metabolic syndrome along with presence of behavioral risk factors in Terai region of Nepal likely suggest lack of awareness and health promotion activities for metabolic syndrome and indicate the need to promote public health programs in this region to maintain quality of life.

Keywords: metabolic syndrome, Nepal, prevalence, risk factors, Terai

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Authors: Sana Ilyas

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Parry-Romberg syndrome is a rare condition clinically defined by slowly progressive atrophy of the skin and soft tissues. This usually effects one side of the face, although a few cases have been documented of bilateral presentation. It is more prevalent in females and usually affects the left side of the face. The syndrome can also be accompanied by neurological abnormalities. It usually occurs in the first two decades of life with a variable rate of progression. The aetiology is unknown, and the disease eventually stabilises. The treatment options usually involve surgical management. The least invasive of these options is the management of facial asymmetry, associated with Parry Romberg syndrome, through the use of tissue fillers. This paper will review the existing literature on the management of Parry Romberg syndrome with tissue filler. Aim: The aim of the study is to explore the current published literature for the management of Parry Romberg syndrome with fillers. It is to assess the development that has been made in this method of management, its benefits and limitations, and its effectiveness for the management of Parry Romberg syndrome. Methodology: There was a thorough assessment of the current literature published on this topic. PubMed database was used for search of the published literature on this method of the management. Papers were analysed and compared with one another to assess the success and limitation of the management of Parry Romberg with dermal fillers Results and Conclusion: Case reports of the use of tissue fillers discuss the varying degrees of success with the treatment. However, this procedure has it’s limitation, which are discussed in the paper in detail. However, it is still the least invasive of all the surgical options for the management of Parry Romberg Syndrome, and therefore, it is important to explore this option with patients, as they may be more comfortable with pursuingtreatment that is less invasive and can still improve their facial asymmetry

Keywords: dermal fillers, facial asymmetry, parry romberg syndrome, tissue fillers

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Authors: James M. Geidner

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Objective: The purpose of this meta-analysis was to examine the evidence for the effectiveness of exercise interventions on reducing metabolic components in children and/or adolescents diagnosed with Paediatric Metabolic Syndrome. Methods: A computerized search was made from four databases: PubMed, PsycInfo, SPORTDiscus, Cochrane Central Register. The analysis was restricted to children and adolescents with metabolic syndrome examining the effect of exercise interventions on metabolic components. Effect size and 95% confidence interval were calculated and the heterogeneity of the studies was estimated using Cochran’s Q-statistic and I2. Bias was assessed using multiple tools and statistical analyses. Results: Thirteen studies, consisting of 19 separate trials, were selected for the meta-analysis as they fulfilled the inclusion criteria (n=908). Exercise interventions resulted in decreased waist circumference, systolic blood pressure, diastolic blood pressure, fasting glucose, insulin resistance, triglycerides, and High-Density Lipoprotein Cholesterol (HDL-C). Conclusions: This meta-analysis provides insights into the effectiveness of exercise interventions on markers of Paediatric Metabolic Syndrome in children and adolescents.

Keywords: metabolic syndrome, syndrome x, pediatric, meta-analysis

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Authors: Mehwish Azam, Muhammad Imran, Humaira Jabeen, Sumreen Begum, Rashida Qasim

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Background: Metabolic syndrome is a cluster of metabolic risk factors including obesity, glucose intolerance, insulin resistance, dyslipidemia and hypertension. Metabolic syndrome in obese and type 2 diabetic subjects increases the risk of cardiovascular diseases (CVD). Globally, the prevalence of metabolic syndrome ranges from 10%-50% and in Pakistan ranges from 18%-46%. The objective of the present study is to estimate the prevalence of metabolic syndrome (MS) in obese type 2 diabetic subjects by using International Diabetes Federation (IDF) and National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) definitions. Methods: Obese type 2 diabetic subjects and normal healthy subjects of both genders were selected from diabetic clinics and hospitals of various localities of Karachi, Pakistan. The frequency of metabolic syndrome was estimated by the proposed definitions of IDF and NCEP-ATP III. Results: The prevalence of metabolic syndrome using International Diabetes Federation (IDF) definition in obese type 2 diabetic subjects was 85.7%. It is significantly higher (p<0.05) in females (47.1%) as compared to males (38.6%). While, using National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) definition the overall prevalence of metabolic syndrome in obese type 2 diabetic subjects was 75.7%, the prevalence is significantly higher (p<0.05) in females (45.7%) than males (30.0%). Conclusion: It is concluded that, the overall prevalence of metabolic syndrome is increasing significantly in obese type 2 diabetic subjects by using IDF and NCEP–ATP III definitions. Therefore, it is need to initiate the preventive measures by arranging public awareness programmes to highlight the significance of a healthy lifestyle and emphasis should be given to reduce weight, increase physical activity, and increase intake of healthy low-glycemic-index foods.

Keywords: metabolic syndrome, diabetes mellitus, obesity, IDF, NCEP-ATP III

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Authors: Nancy Wilson

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In utero, fetal drug exposure is prevalent amongst birthing facilities. Assessment tools for neonatal abstinence syndrome (NAS) are often cumbersome and ill-fitting, harboring immense subjectivity. This paradox often leads the clinical assessor to be hypervigilant when assessing the newborn for subtle symptoms of NAS, often mistaken for normal newborn behaviors. As a quality improvement initiative, this project led to a more adaptable NAS tool termed eat, sleep, console (ESC). This function-based NAS assessment scores the infant based on the ability to accomplish three basic newborn necessities- to sleep, to eat, and to be consoled. Literature supports that ESC methodology improves patient and family outcomes while providing more cost-effective care.

Keywords: neonatal abstinence syndrome, neonatal opioid withdrawal, maternal substance abuse, pregnancy, and addiction, Finnegan neonatal abstinence syndrome tool, eat, sleep, console

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Authors: Meryem Abi-Ayad, Biagio Arcidiacono, Eusebio Chiefari, Daniela Foti, Mohamed Benyoucef, Antonio Brunetti

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Lipoprotein Lipase (LPL) is a key enzyme for lipid metabolism; its genetic polymorphism can be a candidate for modulating lipids parameters in metabolic syndrome. The objective of the present study was to determine whether lipoproteins lipase polymorphisMetS (LPL-HindIII) could be associated with moderate hypertriglyceridemia (secondary to metabolism syndrome). The polymorphism Hind III (rs320) was assessed by PCR-RFLP in 51 MetS patients and 17 healthy controls from the hospital in Tlemcen. The logistic regression analyses showed no significant association with Hind III genotype and hypertriglyceridemia (TG ≥ 1,5g/l or TG lower treatment) (P=0,455), metabolic syndrome (P=0,455), hypertension (P=0,802) and type 2 diabetes (P=0,144). In terms of plasma biomarkers, although not statistically significant, there was a difference in TG levels (P > 0,05), which was lowest among carriers of the homogenous mutant allele (H-). In this study, there was no association between the rare allele (H-) and disease protection, and between the frequent allele (H+) and disease prevalence (hypertriglyceridemia, metabolic syndrome, hypertension, type 2 diabetes).

Keywords: moderate secondary hypertriglyceridemia, metabolic syndrome, lipids, polymorphism lipoprotein lipase, HindIII(rs320)

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Authors: Hassan Shahmiri Barzoki

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Background: Posttraumatic stress disorder (PTSD) is an abnormal physiologic and psychological reaction in person with severe traumatic history. In recent studies, the relationship between PTSD and some other disease apparently unrelated to psychological situations, such as cardiovascular diseases, diabetes, and metabolic syndrome, has been revealed. Thus, the aim of this study was to survey the prevalence of metabolic syndrome and mental health in PTSD patients. Methods: The research design was retrospective cohort study. Subjects were consisted of 142 Iran-Iraq war veterans with PTSD (age: 40-60 years), and the control group was consisted of 153 veterans without PTSD. Data was collected using questionnaires, physical exams and laboratory tests. Results: Prevalence of metabolic syndrome was 45.1%in PTSD group and 17% in control group. In addition, blood pressure, triglyceride and fasting blood sugar in PTSD group were significantly higher than control group (p<0.05). Also, PTSD patients had significant high rates of psychiatric disorders. Conclusion: PTSD patients are more prone to metabolic syndrome and psychiatric disorders than control group.

Keywords: mental health, metabolic syndrome, post traumatic stress disorder, patient

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Authors: Segen Asayehegn

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Introduction: In Tigray, Ethiopia, next to cervical cancer, breast cancer is one of the most common cancer health problems for women. Objectives: This article is proposed to identify the prospective and potential risk factors affecting the time-to-first-recurrence of breast cancer patients in Tigray, Ethiopia. Methods: The data were taken from the patient’s medical record that registered from January 2010 to January 2020. The study considered a sample size of 1842 breast cancer patients. Powerful non-parametric and parametric shared frailty survival regression models (FSRM) were applied, and model comparisons were performed. Results: Out of 1842 breast cancer patients, about 1290 (70.02%) recovered/cured the disease. The median cure time from breast cancer is found at 12.8 months. The model comparison suggested that the lognormal parametric shared a frailty survival regression model predicted that treatment, stage of breast cancer, smoking habit, and marital status significantly affects the first recurrence of breast cancer. Conclusion: Factors like treatment, stages of cancer, and marital status were improved while smoking habits worsened the time to cure breast cancer. Recommendation: Thus, the authors recommend reducing breast cancer health problems, the regional health sector facilities need to be improved. More importantly, concerned bodies and medical doctors should emphasize the identified factors during treatment. Furthermore, general awareness programs should be given to the community on the identified factors.

Keywords: acceleration factor, breast cancer, Ethiopia, shared frailty survival models, Tigray

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Authors: S. H. Jang

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Posterior reversible encephalopathy syndrome (PRES) is characterized by acute neurologic symptoms (visual loss, headache, altered mentality and seizures) and by typical imaging findings (bilateral subcortical and cortical edema with predominatly posterior distribution). Nephrotic syndrome is a syndrome comprising signs of proteinuria, hypoalbuminemia, and edema. It is well known that hypertension predispose patient with nephrotic syndrome to PRES. A 45-year old male was referred for suddenly developed vertigo, disequilibrium. He had previous history of nephrotic syndrome. His medical history included diabetes controlled with medication. He was hospitalized because of generalized edema a few days ago. His vital signs were stable. On neurologic examination, his mental state was alert. Horizontal nystagmus to right side on return to primary position was observed. He showed good grade motor weakness and ataxia in right upper and lower limbs without other sensory abnormality. Brain MRI showed increased signal intensity in FLAIR image, decreased signal intensity in T1 image and focal enhanced lesion in T1 contrast image at whole midbrain, pons and cerebellar peduncle symmetrically, which was compatible with vasogenic edema. Laboratory findings showed severe proteinuria and hypoalbuminemia. He was given intravenous dexamethasone and diuretics to reduce vasogenic edema and raise the intra-vascular osmotic pressure. Nystagmus, motor weakness and limb ataxia improved gradually over 2 weeks; He recovered without any neurologic symptom and sign. Follow-up MRI showed decreased vasogenic edema fairly. We report a case of brain stem PRES in normotensive, nephrotic syndrome patient.

Keywords: posterior reversible encephalopathy syndrome, MRI, nephrotic syndrome, vasogenic brain edema

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Authors: Viyango Pandian, Kumaresh Athiyappan

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Pelvic congestion Syndrome (PCS) is usually seen in multiparous women who give history of chronic dull-aching pelvic pain. We report a case of a 17 year old unmarried female, who presented with acute onset of chronic dull-aching abdominal pain in the left iliac fossa, which particularly increased during menstruation and was finally diagnosed to be pelvic congestion syndrome. On ultrasonography, multiple tortuous and dilated veins were observed in the left adnexa. Both ovaries appeared normal in size, volume and echotexture. Computed tomography (CT) angiography was performed to precisely delineate the venous pathway and to assess any associated abnormality; which showed a dilated and tortuous left ovarian vein with an anomalous course around the left kidney and draining into the left renal vein. Clinical parameters and hormonal levels were within normal limits. This is a rare case of anomalous course of left ovarian vein associated with pelvic congestion syndrome.

Keywords: anomalous course of ovarian vein, computed tomography, pelvic congestion syndrome, ultrasonography

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Authors: Srikanta Tagore Sarkar, Prasanta Kumar Mandal, Dibakar Roy

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The association of a capitate fracture with a scaphoid fracture has been termed as the naviculocapitate syndrome. The existence of some nondisplaced fractures of scaphoid and capitate with or without the fracture of lunate or radius suggests that there is a spectrum of these injuries, and this confuses the terminology. With our case; we report an unusual variety of this naviculocapitate syndrome with distal radial Colles fracture in addition to the nondisplaced fractures of the scaphoid, capitate and the dorsal lip of radial fracture. When we looked at the literature there is no another Colles fracture reported together with undisplaced scapho-capitate syndrome. The coronal and sagittal images that obtained from the MDCT (Multidetector computed tomography) is useful and effective imaging modality to diagnose complex wrist fractures with more details that are not detected in X-rays.

Keywords: scaphoid, capitate, Colles’ fracture, syndrome, MDCT, unusual

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Authors: Javiera Espinosa, Patricia López, Noelia Santos, Nadia Loro, Esther Moraleda

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In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profile. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder, and on the other hand, many investigations show a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: disability, language, speech, down syndrome

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Authors: S. Alireza Mirghasemi, Elly Trepman, Mohammad Saleh Sadeghi, Narges Rahimi Gabaran, Shervin Rashidinia

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Bone marrow edema syndrome (BMES) is an uncommon and self-limited syndrome characterized by atraumatic extremity pain with unknown of etiology. Symptom onset may include sudden or gradual swelling and pain at rest or during activity, usually at night. This syndrome mostly affects middle-aged men and younger women who have pain in the lower extremities. The most common sites involved with BMES, in decreasing order of frequency, are the bones about the hip, knee, ankle, and foot. The diagnosis of BMES is made with magnetic resonance imaging to exclude other causes of bone marrow edema. The correct diagnosis often is delayed because of the low prevalence and nonspecific signs in the foot and ankle. This delay may intensify bone pain and impair patient function and quality of life. The goal of BMES treatment is to relieve pain and shorten disease duration. Treatment options are limited and may include symptomatic treatment, pharmacologic treatment, and surgery.

Keywords: transient osteoporosis, bone marrow edema syndrome, iloprost, bisphosphonates

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Authors: A. T. Nakysh, A. S. Idrisov, S. A. Baidurin

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This work presents the results of a study the incidence of metabolic syndrome (MetS) in women with impaired reproductive function (IRF) according to the data of Astana, Kazakhstan. The anthropometric, biochemical and instrumental studies were conducted among 515 women, of which 53 patients with MetS according to IDF criteria, 2006, were selected. The frequency of occurrence of the IRF, due to MetS – 10.3% of cases according to the data of Astana. In women of childbearing age with IRF and the MetS, blood pressure (BP), indicators of carbohydrate and lipid metabolism were significantly higher and the level of high density lipoprotein (HDL) significantly lower compared to the same in women with the IRF without MetS. The hyperandrogenism, the hyperestrogenemia, the hyperprolactinemia and the hypoprogesteronemia were found in the patients with MetS and IRF, indicating the impact of MetS on the development of the polycystic ovary syndrome in 28% of cases and hyperplastic processes of the myometrium in 20% of cases.

Keywords: dyslipidemia, insulin resistance, metabolic syndrome, reproductive disorders, obesity

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Authors: Muhammad Fiaz, Muhammad Saqlain, Abid Mahmood, S. M. Saqlan Naqvi, Rizwan Aziz Qazi, Ghazala Kaukab Raja

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Background: Metabolic Syndrome is a clustering of multiple risk factors including central obesity, hypertension, dyslipidemia and hyperglycemia. These risk phenotypes of metabolic syndrome (MetS) prevalent world-wide, Therefore we aimed to identify the frequency of risk phenotypes among metabolic syndrome subjects in local adult Pakistani population. Methods: Screening of subjects visiting out-patient department of medicine, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad was performed to assess the occurrence of risk phenotypes among MetS subjects in Pakistani population. The Metabolic Syndrome was defined based on International Diabetes Federation (IDF) criteria. Anthropometric and biochemical assay results were recorded. Data was analyzed using SPSS software (16.0). Results: Our results showed that dyslipidemia (31.50%) and hyperglycemia (30.50%) was most population specific risk phenotypes of MetS. The results showed the order of association of metabolic risk phenotypes to MetS as follows hyperglycemia>dyslipidemia>obesity >hypertension. Conclusion: The hyperglycemia and dyslipidemia were found be the major risk phenotypes among the MetS subjects and have greater chances of deceloping MetS among Pakistani Population.

Keywords: dyslipidemia, hypertention, metabolic syndrome, obesity

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Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida

Abstract:

Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.

Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children

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Authors: Cheng-Yu Tsai, Wen-Te Liu, Yin-Tzu Lin, Chen-Chen Lo, Kang Lo

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Background: Driving drowsiness related to inadequate or disordered sleep accounts for a major percentage of traffic accidents. Sleep-disordered breathing (SDB) syndrome is a common respiratory disorder during sleep. However, the effects of SDB syndrome on driving fatigue remain unclear. Objective: This study aims to investigate the relationship between SDB pattern and driving drowsiness. Methodologies: The physical condition while driving was obtained from the questionnaires to classify the state of driving fatigue. SDB syndrome was quantified as the polysomnography, and the air flow pattern was collected by the thermistor and nasal pressure cannula. To evaluate the desaturation, the mean hourly number of greater than 3% dips in oxygen saturation was sentenced by reregistered technologist during examination in a hospital in New Taipei City (Taiwan). The independent T-test was used to investigate the correlations between sleep disorders related index and driving drowsiness. Results: There were 880 subjects recruited in this study, who had been done polysomnography for evaluating severity for obstructive sleep apnea syndrome (OSAS) as well as completed the driver condition questionnaire. Four-hundred-eighty-four subjects (55%) were classified as fatigue group, and 396 subjects (45%) were served as the control group. Significantly higher values of snoring index (242.14 ± 205.51 /hours) were observed in the fatigue group (p < 0.01). The value of respiratory disturbance index (RDI) (31.82 ± 19.34 /hours) in fatigue group were significantly higher than the control group (p < 0.01). Conclusion: We observe the considerable association between SDB syndrome and driving drowsiness. To promote traffic safety, SDB syndrome should be controlled and alleviated.

Keywords: driving drowsiness, sleep-disordered breathing syndrome, snoring index, respiratory disturbance index.

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Authors: Elena Jiménez Lidueña, Noelia Santos Muriel, Patricia López Resa, Noelia Pulido García, Esther Moraleda Sepúlveda

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In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profiles. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder and, on the other hand, shows a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: Down Syndrome, Autism, comorbidity, linguistic

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Authors: Taraneh Ashrafi Motlagh, Abdolrasoul Daneshjoo

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Background and Aim: Increased fatigue causes injuries; the purpose of this article was to investigate the angular displacement of the hip and knee joints in girls with patellofemoral syndrome. Materials and Methods: Thirty girls with an average age (age 28.73±1.83, height 168.49±5.59, weight 63.73±12.73) participated in this study in two groups of 15, experimental and control. The jet evaluation test was taken from the subjects' knee and thigh angle, and then these tests were repeated with the application of different inclines of the treadmill; the tests were examined in a neutral position and in a positive and negative slope of 5 degrees. The mean and standard deviation were used to describe the data, and the Shapirovik test was used for the normalization of the data to compare and examine the variables in the two research groups using an independent t-test and repeated analysis of variance at a significance level of 0.05. Conclusion: In general, according to the current studies of people with patellofemoral syndrome, running on steep inclines, as well as running on a treadmill and making the incline angle of the treadmill within the limit of minus 5% to plus 5%, does not affect the improvement of this condition, and it is not recommended. And according to the research, girls with patellofemoral syndrome should be placed on the treadmill at an inclined angle to run.

Keywords: patellofemoral syndrome, angular displacement of the knee, angular displacement of the thigh

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Authors: Xu Yifei, Le Yining, Yang Qingluan, Tu Yanjie

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Objective: This study aims to investigate the distribution features of Traditional Chinese Medicine (TCM) syndromes and syndrome elements in Epstein-Barr virus-associated diseases and then explores the relations between TCM syndromes or syndrome elements and laboratory indicators of Epstein-Barr virus-associated diseases. Methods: A cross-sectional study of 70 patients with EBV infection was described. We assessed the diagnostic information and laboratory indicators of these patients from Huashan Hospital Affiliated to Fudan University between November 2017 and July 2019. The disease diagnosis and syndrome differentiation were based on the diagnostic criteria of EBV-associated diseases and the theory of TCM respectively. Confidence correlation analysis, logistic regression analysis, cluster analysis, and the Sankey diagram were used to analyze the correlation between the data. Results: The differentiation of the 4 primary TCM syndromes in the collected patients was correlated with the indexes of immune function, liver function, inflammation, and anemia, especially the relationship between Qifen syndrome and high lactic acid dehydrogenase level. The common 11 TCM syndrome elements were associated with the increased CD3+ T cell rate, low hemoglobin level, high procalcitonin level, high lactic acid dehydrogenase level, and low albumin level. Conclusion: The changes in immune function indexes, procalcitonin, and liver function-related indexes in patients with EBV-associated diseases were consistent with the evolution law of TCM syndromes. This study provides a reference for judging the pathological stages of these kinds of diseases, predicting their prognosis, and guiding subsequent treatment strategies based on TCM syndrome type.

Keywords: EBV-associated diseases, traditional Chinese medicine syndrome, syndrome element, diagnostics

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Authors: Aran Abd Al Rahman

Abstract:

Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

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Authors: Amany Ragab, Nashwa Khairat Abousamra, Omayma Saleh, Asmaa Higazy

Abstract:

Insulin resistance syndrome has been shown to be associated with many coagulation and fibrinolytic proteins and these associations suggest that some coagulation and fibrinolytic proteins have a role in atherothrombotic disorders. This study was conducted to determine the levels of some of the haemostatic parameters in subjects having metabolic syndrome and to correlate these values with the anthropometric and metabolic variables associated with this syndrome. The study included 46 obese non diabetic subjects of whom 28 subjects(group1) fulfilled the ATP III criteria of the metabolic syndrome and 18 subjects (group2) did not have metabolic syndrome as well as 14 lean subjects (group 3) of matched age and sex as a control group. Clinical and laboratory evaluation of the study groups stressed on anthropometric measurements (weight, height, body mass index, waist circumference, and sagittal abdominal diameter), blood pressure, and laboratory measurements of fasting plasma glucose, fasting insulin, serum lipids, tissue plasminogen activator (t-PA), antithrombin III activity (ATIII), protein C and von Willebrand factor (vWf) antigen. There was significant increase in the concentrations of t-PA and vWf antigens in subjects having metabolic syndrome (group 1) in comparison to the other groups while there were non-significant changes in the levels of protein C antigen and AT III activity. Both t-PA and vWf showed significant correlation with HOMA-IR as a measure of insulin sensitivity. The t-PA showed also significant correlation with most of the variables of metabolic syndrome including waist circumference, BMI, systolic blood pressure, fasting plasma glucose, fasting insulin, and HDL cholesterol. On the other hand, vWf showed significant correlations with fasting plasma glucose, fasting insulin and sagital abdominal diameter, with non-significant correlations with the other variables. Haemostatic and fibrinolytic parameters should be included in the features and characterization of the insulin resistance syndrome. t-PA and vWf antigens concentrations were increased in subjects with metabolic syndrome and correlated with the HOMA-IR measure of insulin sensitivity. Taking into consideration that both t-PA and vWf are mainly released from vascular endothelium, these findings could be an indicator of endothelial dysfunction in that group of subjects.

Keywords: insulin resistance, obesity, metabolic syndrome, coagulation

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Authors: Alireza Monzavi Chaleshtari, Mahnaz Aliakbari Dehkordi, Mina Gholampour, Majid Saffarinia, Tayebeh Mohtashami, Amin Asadi Hieh

Abstract:

The study aimed to assess the impact of positive psychology education on the social well-being of high school girls experiencing premenstrual syndrome (PMS). The statistical population comprised high school girls with PMS, with 30 randomly selected participants divided into two groups: 15 in the experimental group and 15 in the control group. The research employed a pre-test and post-test design using a standard questionnaire to evaluate premenstrual syndrome symptoms over a 7-day period before menstruation to a maximum of 2 days after menstruation, along with the Social Keys welfare questionnaire. During the study, the experimental group underwent an 8-session positive psychology group program. Data analysis was conducted using analysis of covariance. The results indicated a significant positive effect of positive psychology training on enhancing the social well-being of girls (p < 0.05). In conclusion, the findings suggest that positive psychology interventions can effectively increase social well-being among high school girls experiencing premenstrual syndrome.

Keywords: positive psychology, premenstrual syndrome, social welfare, girls

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Authors: Walid A. Alkeridy, Arwa Aljasser, Khalid Mohammed Alayed, Saad Alsaad, Amani S. Alqahtani, Claire Ann Lim, Sultan H. Alamri, Doaa Zainhom Mekkawy, Mohammed Al-Sofiani

Abstract:

Introduction: The history of publicly funded Home Health Care (HHC) service in Saudi Arabia dates back to 1991. The first HC program was launched to provide palliative home care services for patients with terminal cancer. Thereafter, more programs launched across Saudi Arabia most remarkably was launching the national program for HHC by the Ministry Of Health (MOH) in 2008. The national HHC MOH program is mainly providing long-term care home care services for over 40,000 Saudi citizens. The scope of the HHC service program provided by the Saudi MOH is quite diverse, ranging from basic nursing care to specialized care programs, e.g., home peritoneal dialysis, home ventilation, home infusion therapy, etc. Objectives: The primary aim of our study is to report the prevalence of chronic conditions among Saudi people receiving long-term HHC services. Secondary aims include identifying the predictors of mortality among individuals receiving long-term HHC services and studying the association between frailty and poor health outcomes among HHC users. Methods: We conducted a retrospective and cross-sectional data collection from participants receiving HHC services at King Saud University Medical City, Riyadh, Saudi Arabia. Data were collected from electronic health records (EHR), patient charts, and interviewing caregivers from the year 2019 to 2022. We assessed functional performance by Katz's activity of daily living and the Bristol Activity of Daily Living Scale (BADLS). A trained health care provider assessed frailty using the Clinical Frailty Scale (CFS). Mortality was assessed by reviewing the death certificates if patients were hospitalized through discharge status ascertainment from EHR. Results: The mean age for deceased individuals in HHC was 78.3 years. Over twenty percent of individuals receiving HHC services were readmitted to the hospital. The following variables were statistically significant between deceased and alive individuals receiving HHC services; clinical frailty scale, the total number of comorbid conditions, and functional performance based on the KATZ activity of daily living scale and the BADLS. We found that the strongest predictors for mortality were pressure ulcers which had an odds ratio of 3.75 and p-value of < 0.0001, and the clinical frailty scale, which had an odds ratio of 1.69 and p-value of 0.002, using multivariate regression analysis. In conclusion, our study found that pressure ulcers and frailty are the strongest predictors of mortality for individuals receiving home health care services. Moreover, we found a high rate of annual readmission for individuals enrolled in HHC, which requires further analysis to understand the possible contributing factors for the increased rate of hospital readmission and develop strategies to address them. Future studies should focus on designing quality improvement projects aimed at improving the quality of life for individuals receiving HHC services, especially those who have pressure ulcers at the end of life.

Keywords: homecare, Saudi, prevalence, chronic

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Authors: Chandralekha Ashangari, Amer Suleman

Abstract:

Background and Purpose: The Postural Orthostatic Tachycardia Syndrome (POTS) affects primarily young women. POTS is a form of dysautonomia that is estimated to impact between 1,000,000 and 3,000,000 Americans, and millions more around the world. POTS is a form of orthostatic intolerance that is associated with many Gastrointestinal disturbances. The aim of this study is to determine the Gastrointestinal disturbances in Postural Orthostatic Tachycardia Syndrome (POTS) patients.2. Methods: 249 patients referred to our clinic from January to November with POTS. Reviewed the medical records of 249 POTS patients and gastrointestinal symptoms. Results: however out of 249 patients, 226 patients are female (90.76%; average age 32.69), 23 patients are male (9.24%; average age 27.91) Data analysis: Out of 249 patients 189 patients (76%) had vomiting or nausea, 150 patients (60%) had irritable bowel syndrome, 128 patients (51%) had bloating, 125 patients (50%) had constipation , 80 patients (32%) had abdominal pain, 56 patients (22%) had delayed gastric emptying, 24 patients (10%) had lactose intolerance, 8 patients (3%) had Gastroesophageal reflux disease, 5 patients (2%) had Iron deficiency anemia, 6 patients (2%) had Peptic ulcer disease, 4 patients (2%) had Celiac Disease. Conclusion: Patients with POTS have a very high prevalence of gastrointestinal symptoms however the majority of abnormalities appear to be motility related. Motility testing should be performed be performed in POTS patients. The diagnostic yield of endoscopic procedures appears to be low.

Keywords: gastrointestinal disturbances, Postural Orthostatic Tachycardia Syndrome (POTS), celiac disease, POTS patients

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