Search results for: McCune Albrigth's syndrome

Authors: Aleksandra Chałupnik, Zuzanna Chilimoniuk, Joanna Borowik, Aleksandra Borkowska, Anna Torres

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Background: Precocious puberty is the occurrence of secondary sexual characteristics in girls before the age of 8. The diverse etiology of premature puberty is crucial to determine whether it is true precocious puberty, depending on the activation of the hypothalamic-pituitary-gonadal axis, or pseudo-precocious, which is independent of the activation of this axis. Whatever the cause, premature action of the sex hormones leads to the common symptoms of various forms of puberty. These include the development of sexual characteristics, acne, acceleration of growth rate and acceleration of skeletal maturation. Due to the possible genetic basis of the disorders, an interdisciplinary search for the cause is needed. Case report: The case report concerns a patient of a pediatric gynecology clinic who, at the age of two years, developed advanced thelarhe (M3) and started recurrent vaginal bleeding. In August 2019, gonadotropin suppression initially and after LHRH stimulation and high estradiol levels were reported at the Endocrinology Department. Imaging examinations showed a cyst in the right ovary projection. The bone age was six years. The entire clinical picture indicated pseudo- (peripheral) precocious in the course of ovarian autonomic cyst. In the follow-up ultrasound performed in September, the image of the cyst was stationary and normalization of estradiol levels and clinical symptoms was noted. In December 2019, cyst regression and normal gonadotropin and estradiol concentrations were found. In June 2020, white mucus tinged with blood on the underwear, without any other disturbing symptoms, was observed for several days. Two consecutive USG examinations carried out in the same month confirmed the change in the right ovary, the diameter of which was 25 mm with a very high level of estradiol. Germinal tumor markers were normal. On the Tanner scale, the patient scored M2P1. The labia and hymen had puberty features. The correct vaginal entrance was visible. Another active vaginal bleeding occurred in the first week of July 2020. The considered laparoscopic treatment was abandoned due to the lack of oncological indications. Treatment with Tamoxifen was recommended in July 2020. In the initiating period of treatment, no maturation progression, and even reduction of symptoms, no acceleration of growth and a marked reduction in the size of the cysts were noted. There was no bleeding. After the size of the cyst and hormonal activity increased again, the treatment was changed to Anastrozole, the effect of which led to a reduction in the size of the cyst. Conclusions: The entire clinical picture indicates alleged (peripheral) puberty. Premature puberty in girls, which is manifested as enlarged mammary glands with high levels of estrogens secreted by autonomic ovarian cysts and prepubertal levels of gonadotropins, may indicate McCune-Albright syndrome. Vaginal bleeding may also occur in this syndrome. Cancellation of surgical treatment of the cyst made it impossible to perform a molecular test that would allow to confirm the diagnosis. Taking into account the fact that cysts are often one of the first symptoms of McCune-Albrigt syndrome, it is important to remember about multidisciplinary care for the patient and careful search for skin and bone changes or other hormonal disorders.

Keywords: McCune Albrigth's syndrome, ovarian cyst, pediatric gynaecology, precocious puberty

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Authors: Kamal Chafiq, Youssef Hadzine, Adel Elmekkaoui, Othmane Benlenda, Houssam Rajad, Soukaina Wakrim, Hicham Nassik

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Guillain-Barré syndrome/Miller Fishe syndrome (GBS/MFS) overlap syndrome is an extremely rare variant of Guillain-Barré syndrome (GBS) in which Miller Fisher syndrome (MFS) coexists with other characteristics of GBS, such as limb weakness, paresthesia, and facial paralysis. We report the clinical case of a 12-year-old patient, with no pathological history, who acutely presents with ophthalmoplegia, areflexia, facial diplegia, and swallowing and phonation disorders, followed by progressive, descending, and symmetrical paresis affecting first the upper limbs and then the lower limbs. An albuminocytological dissociation was found in the cerebrospinal fluid study. Magnetic resonance imaging of the spinal cord showed enhancement and thickening of the cauda equina roots. The patient was treated with immunoglobulins with a favorable clinical outcome.

Keywords: Guillain-Barré syndrome, Miller Fisher syndrome, overlap syndrome, anti-GQ1b antibodies

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Authors: Sweta Das

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This case report highlights the atypical clinical manifestation of ipsilateral head, neck, shoulder, and eye pain with erythema and edema of right eyelid and conjunctiva, along with typical presentation of right sided Horner’s syndrome in a 37-year-old female, who was correctly diagnosed with Wallenberg syndrome due to collaborative effort from optometry, primary care, emergency, and neurology specialties in medicine. Horner’s syndrome is present in 75% of patients with Wallenberg syndrome. Given that patients with Wallenberg syndrome often first present to the Emergency Department with a vast variety of non-specific symptoms, and a normal MRI, a delayed diagnosis is common. Therefore, a collaborative effort between emergency department, optometry, primary care, and neurology is essential in correctly diagnosing Wallenberg’s syndrome in a timely manner.

Keywords: horner's syndrome, stroke, wallenberg syndrome, lateropulsion of eyes

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Authors: Huma Atta, Ishrat Rehman, Muhammad Umair

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Objective: To find out the effectiveness of Dr. Stein behavioural modification strategies among Down syndrome children’s behavioural problems. Material & Methods: We took a group of individuals (aged 8-16) having Down syndrome from national special education complex, Peshawar. They were assessed through the behavioural problem index to give us an idea on their behaviour problems, those with a behavioural problem were kept in therapy for further sessions to help them improve. Results: A treatment plan was made according to the extracted behavioural problems of Down syndrome children. Dr. Stein recommended behavioural modification treatment strategies were used for behavioural modification of Down syndrome children (Routine, reward, choice, redirection and consistency). Pre-intervention (M=69.11, SD=6.27) and post-intervention (M=61.33, SD=6.51) conditions; t (8) =2.70, p=0.027. Conclusion: After the successful completion of 9 sessions with Down syndrome children, their behavioural problems were reassessed. Results indicated that Dr. Stein behavioural modification strategy is an effective treatment plan for the modification of behavioural problems among Down syndrome children.

Keywords: behavior, down syndrome, treatment, strategies

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Authors: Mohammad Alqattan, Tala Alkhunani, Reema Al, Aldawish, Felwa Almurshard, Abdullah Alzahrani

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: Poland’s Syndrome is a congenital anomaly with two clinical features : unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. Case presentation: We report a rare case of bilateral Poland’s syndrome with several unique features. Discussion: Poland’s syndrome is thought to be due to a vascular insult to the subclavian axis around the 6th week of gestation. Our patient has multiple rare and unique features of Poland’s syndrome. Conclusion: To our best knowledge, for the first time in the literature we associate Poland’s syndrome with cone-shaped epiphysis of the metacarpals of all fingers. Bilaterality, cleft hand deformity, and dextrocardia, were also rare features in our patient.

Keywords: Poland's syndrome, cleft hand deformity, bilaterality, dextrocardia, cone-shaped epiphysis

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Authors: Anna D. Kotrova, Alexandr N. Shishkin, Elena I. Ermolenko

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The aim. To study the quantitative and qualitative colon bacteria ratio from patients with metabolic syndrome. Materials and methods. Fecal samples from patients of 2 groups were identified and analyzed: the first group was formed by patients with metabolic syndrome, the second one - by healthy individuals. The metagenomics method was used with the analysis of 16S rRNA gene sequences. The libraries of the variable sites (V3 and V4) gene 16S RNA were analyzed using the MiSeq device (Illumina). To prepare the libraries was used the standard recommended by Illumina, a method based on two rounds of PCR. Results. At the phylum level in the microbiota of patients with metabolic syndrome compared to healthy individuals, the proportion of Tenericutes was reduced, the proportion of Actinobacteria was increased. At the genus level, in the group with metabolic syndrome, relative to the second group was increased the proportion of Lachnospira. Conclusion. Changes in the colon bacteria ratio in the gut microbiota of patients with metabolic syndrome were found both at the type and the genus level. In the metabolic syndrome group, there is a decrease in the proportion of bacteria that do not have a cell wall. To confirm the revealed microbiota features in patients with metabolic syndrome, further study with a larger number of samples is required.

Keywords: gut microbiota, metabolic syndrome, metagenomics, tenericutes

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Authors: Armaghan Moravej Aleali, Hajieh Shahbazian, Seyed Mahmoud Latifi, Leila Yazdanpanah

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Objective: Metabolic syndrome or insulin resistance syndrome or syndrome X is a collection of abdominal obesity, hypertension, glucose intolerance and lipid abnormalities (elevated triglycerides, elevated LDL, and decrease the amount of HDL). That increases the incidence of diabetes and risk of cardiovascular disease. The aim of this study is to investigate the prevalence of metabolic syndrome in people over 20 years of Ahvaz according to IDF, ATPIII, Harmonized I and Harmonized II. Material & Methods: A cross-sectional study with a random cluster sampling in six health centers in Ahvaz was done. After obtaining informed consent, questionnaire for each person filled up including demographic data and examinations, including blood pressure in sitting position, weight, height, waist circumference, and waist circumference measurement. Results: From all participating 912 people, (434 (2/47%) male and 478 (2/52%) female) were evaluated. Mean age was 42/27± 14years (44/2±14/26 for male and 40/5±13/5 for female). Prevalence of metabolic syndrome was 22/8%, 28/4%, 30/9% and 16/9% according to ATPIII, IDF, Harmonized I and Harmonized II criteria respectively and increased with age in both sexes. IDF and Harmonized I had most kappa coordination (0/94). Conclusion: The results show a high prevalence of metabolic syndrome in Ahvaz. So, identification of the risk factors should be attempted to prevent metabolic syndrome.

Keywords: metabolic syndrome, IDF, ATP III, prevalence

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Authors: Olha Yarova

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This study is a collaborative project between the American University of Central Asia and parent association of children with Down syndrome ‘Sunterra’ that took place in Bishkek, Kyrgyzstan. The purpose of the study was to explore whether principles and techniques of applied behavior analysis (ABA) could be used to teach children with Down syndrome socially significant behaviors. ABA is considered to be one of the most effective treatment for children with autism, but little research is done on the particularity of using ABA to children with Down syndrome. The data for the study was received during clinical observations; work with children with Down syndrome and interviews with their mothers. The results show that many ABA principles make the work with children with Down syndrome more effective. Although such children very rarely demonstrate aggressive behavior, they show a lot of escape-driven and attention seeking behaviors that are reinforced by their parents and educators. Thus functional assessment can be done to assess the function of problem behavior and to determine appropriate treatment. Prompting and prompting fading should be used to develop receptive and expressive language skills, and enhance motor development. Even though many children with Down syndrome work for praise, it is still relevant to use tangible reinforcement and to know how to remove them. Based on the results of the study, the training for parents of children with Down syndrome will be developed in Kyrgyzstan, country, where children with Down syndrome are not accepted to regular kindergartens and where doctors in maternity hospitals tell parents that their child will never talk, walk and recognize them

Keywords: down syndrome, applied behavior analysis, functional assessment, problem behavior, reinforcement

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Authors: Fu-Chien Hung, Chi‐Wen Liang

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Background: People who suffer from chronic fatigue syndrome (CFS) frequently complain about continuous tiredness, weakness or lack of strength, but without apparent organic etiology. The prevalence rate of the CFS is nearly from 3% to 20%, yet more than 80% go undiagnosed or misdiagnosed as depression. The biopsychosocial model has suggested the associations among the CFS, depressive syndrome, and stress. This study aimed to investigate the difference between individuals with the CFS and with the depressive syndrome on psychophysiological responses under stress. Method: There were 23 participants in the CFS group, 14 participants in the depression group, and 23 participants in the healthy control group. All of the participants first completed the measures of demographic data, CFS-related symptoms, daily life functioning, and depressive symptoms. The participants were then asked to perform a stressful cognitive task. The participants’ psychophysiological responses including the HR, BVP and SC were measured during the task. These indexes were used to assess the reactivity and recovery rates of the automatic nervous system. Results: The stress reactivity of the CFS and depression groups was not different from that of the healthy control group. However, the stress recovery rate of the CFS group was worse than that of the healthy control group. Conclusion: The results from this study suggest that the CFS is a syndrome which can be independent from the depressive syndrome, although the depressive syndrome may include fatigue syndrome.

Keywords: chronic fatigue syndrome, depression, stress response, misdiagnosis

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Authors: Dessy Laksyana Utami

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The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. It is commonly increases sickness absenteeism and causes a decrease in productivity of the workers. Evidence suggests that what is called the Sick Building Syndrome are at least three separate entities, which has at least one cause. The following are some of the factors that might be primarily responsible for Sick Building Syndrome such as: Chemical contaminants, Biological contaminants, Inadequate ventilation and Electromagnetic radiation. In many cases it is due to insufficient maintenance of the HVAC (heating, ventilation, air conditioning) system in the building. As this syndrome is increasingly becoming a major occupational hazard. It was used the analytic cross-sectional design. Based on data obtained 80% of respondents reported significant ongoing health problems in the eyes, head, and the nose. 60% had bad symptoms in the throat, the stomach and cough, 50% had gastrointestinal disorders, 40% fatigue and 25% occurred all symptoms sick building syndrome. The 40 respondents were recruited to the study, with a mean age of 35 years (range 20-55). To support the evidence of Sick Building Syndrome, further checks are needed for some of the factors in next research, i.e. measurement of Chemical contaminants, Biological contaminants, inadequate ventilation & Electromagnetic radiation.

Keywords: indoor air pollution, sick building syndrome, indoor air quality, oil gas polution

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Authors: Armaghan Moravej Aleali, Seyed Bahman Ghaderian, Homeira Rashidi, Mahmoud Mapar

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Background and Objective The metabolic syndrome (MetS) is considered the most important public health threat of the 21st century. This syndrome is characterized by a cluster of cardiovascular risk factors including increased central abdominal obesity, elevated triglycerides, reduced high-density lipoprotein, high blood pressure, increased fasting glucose, and hyperinsulinemia. MetS has been associated with hypogonadism and erectile dysfunction (ED), and MetS may be considered a risk factor for ED. The aim of this study was finding an association between metabolic syndrome and hypogonadism in Khouzestan, Iran. Subjects and Methods: In this study, 60 patients divided into two groups consisted of 30 cases (with metabolic syndrome) and 30 controls. Total and free Serum Testosterone and FBS in all of them were measured. Data was analyzed with SPSS20 program. Results: There was a significant difference between two groups about free Testosterone (P=0.01), FBS (P=0.002) and LH (P=0.03). Conclusion: According to this finding, it is thought the prevalence of hypogonadism in men with metabolic syndrome is more than the general population.

Keywords: metabolic syndrome, fasting blood sugar, hypogonadism, testosterone

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Authors: Mandob Enyegue Damaris, Oko Ndjollo Viviane

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The prevalence of Metabolic Syndrome is increasing throughout the world. The etiology of the metabolic syndrome is dependent on different factors such as ethnic group. This study aimed to evaluate the metabolic syndrome among Mbo ethnic group people leaving in Yaounde, Cameroon. The study conducted on the hundred and thirty two people 40 men and 92 women aged between 18-60 years who were referred to the Andre Fouda Medical Fundation in Yaounde. Metabolic syndrome was diagnosed using Adult Treatment Panel-III (A.T.P-III) 2001 guidelines. The mean of age, high fasting blood glucose, triglycerides levels and total cholesterol levels were significantly (P<0.05) higher in women with metabolic syndrome. High blood pressure level (56.80%), high fasting glucose (20.45%) and high waist circumference (10.60%) were respectively the most frequent characteristics in comparison to others metabolic components. The overall prevalence of MetS was (4.55%) and higher in women (3.03%) than in men (1.52%). The prevalence of MetS is low in originates of Mbo ethnic group of Yaounde. High blood pressure is the most common abnormality.

Keywords: individual components, metabolic syndrome, Mbo ethnic group, Yaounde-Cameroon

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Authors: Sara Canas Pedrosa, Esther Moraleda SepuLveda

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Angelman Syndrome (AS) and Prader-Willi Syndrome (PWS) are considered rare genetic disorders that share the same chromosomal region: 15q11.2-q13. This is why both share some common characteristics, such as, delay in language development. However, there is still little research that specifically focuses on the linguistic profile in these populations. Therefore, the objective of this study was to know the characteristics of oral and written language that Angelman Syndrome and Prader-Willi Syndrome present from the point of view of parents. The sample consisted of 36 families (with children between 6 and 17 years old), of which 23 had children with AS and 13 had children with PWS. All of them answered the Language Assessment Scale of the standardized test CELF-4, Spanish Clinical Evaluation of Language Fundamentals-4 (Wiig, Secord & Semel, 2006). The scale is made up of 40 items that assesses the perception of parents in areas such as: difficulty of listening, speaking, reading and writing. The results indicate that the majority of parents manifest problems in almost all the sub-areas related to oral language and written language, taking into account that many do not achieve a literacy level, with similar results in comparison with both syndromes. These data support the importance of working on oral language delay and its relationship with the subsequent learning of literacy throughout its development.

Keywords: Angelman Syndrome , development, language, Prader-Willi Syndrome

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Authors: Amal Baalash, Shazia Mukaddam, M. Adel El-Sayed

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Background: Several studies have suggested non-skeletal effects of vitamin D and linked its deficiency with features of many chronic conditions. In this study, We aimed to investigate the relationship between vitamin D levels and different components of the metabolic syndrome in male and female Saudi patients. Methods: the study population consisted of 111 patients with metabolic syndrome (71 females and 40 males) aged 37-63 years enrolled from patients attending the internal medicine outpatient clinics of King Fahad Medical City. The parameters for diagnosis of the metabolic syndrome according to the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) were measured, which included waist circumference, TG, HDL-C, Blood pressure and fasting blood glucose (FBS). The association between each parameter and serum 25-hydroxyvitamin D (25(OH) D) was studied in both male and female patients separately. Results: in male patients, 25(OH) D levels were inversely associated with FBS and TG and positively associated with HDL-C and diastolic blood pressure, With highest association with the HDL-C levels. On the other hand 25(OH) D, Showed no significant association with any of the measured metabolic syndrome parameters in female patients. Conclusion: in Saudi patients with metabolic syndrome, the association between the parameters of metabolic syndrome and the levels of 25 (OH) D is more pronounced in males rather than females.

Keywords: gender, metabolic syndrome, Saudi patients, vitamin D

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Authors: Sara Santos, Maria João Santos

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Thisarticleanalyzesthethemeofwork-family conflict and professional stress among financial workers and their relationships with burnout syndrome. This also studieshowthesocio demographicandworkingcharacteristicsoftheseprofessionalsinfluencetheirlevelsofburnout. Weadopted a mixedmethodbasedontheanalysisof 255 surveysand 24 interviewscarriedoutwith financial sector professionals. Thekeyresultsincludeverificationofhowtheseprofessionalsregister a positive relationshipbetweenwork-familyconflictandburnoutsyndrome as well as betweenprofessional stress andburnout. Thestudycontributes to a betterunderstandingoftheimpactsthatwork-familyconflictsandprofessional stress haveon financial professionalsandhowtheycontribute to thevariationsprevailingintheirrespectivelevelsofburnout.

Keywords: burnout syndrome, financial area, conflict, stres

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Authors: Vaibhavi Birle

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Posterior reversible encephalopathy syndrome is a rare clinic-radiological syndrome associated with acute changes in blood pressure during pregnancy. It is characterized symptomatically by headache, seizures, altered mental status, and visual blurring with radiological changes of white matter (vasogenic oedema) affecting the posterior occipital and parietal lobes of the brain. It is being increasingly recognized due to increased institutional deliveries and advances in imaging particularly magnetic resonance imaging (MRI). In spite of the increasing diagnosis the prediction of PRES and patient factors affecting susceptibility is still not clear. Hence, we conducted the retrospective study to analyse the factors associated with PRES at our tertiary centre.

Keywords: pres syndrome, eclampsia, maternal outcome, fetal outcome

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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: Brenda Rodriguez

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In this observational study, we investigate a neurotypical peer's impact on both the social and academic success of a child with Down Syndrome in a kindergarten setting. The child with Down Syndrome experiences difficulty articulating words clearly and is paired with a classmate in various academic and social contexts over three weeks. Utilizing both qualitative and quantitative data, we aim to document any classroom interactions that may occur. The findings of this study will contribute to understanding how peer relationships facilitate academic achievement and will advance research on inclusive classroom practices.

Keywords: academic and social success, down syndrome, inclusive classrooms, peer interaction

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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

Abstract:

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

Abstract:

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

Abstract:

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

Abstract:

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: S. H. Jang

Abstract:

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

Procedia PDF Downloads 274