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22:17 EDT 26th March 2019 | BioPortfolio

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Showing "Study Chediak Higashi Syndrome" PubMed Articles 1–25 of 62,000+

Acute Transient Sixth Nerve Palsy in Chediak-Higashi Syndrome.

Neurologic disorders in Chediak-Higashi syndrome are usually late presentations and also may manifest long after bone marrow stem cell transplantation. To the authors' knowledge, transient neurological deficit has not been reported yet. They describe a 6-year-old boy with Chediak-Higashi syndrome in the accelerated phase who presented with transient sixth nerve palsy. [J Pediatr Ophthalmol Strabismus. 2018;55:e22-e25].

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objecti...

Morphological and functional analysis of beige (Chèdiak-Higashi syndrome) mouse mast cells with giant granules.

Chèdiak-Higashi syndrome is a rare autosomal recessive disease that causes hypopigmentation, recurrent infections, mild coagulation defects and neurological problems. Beige mice carry a mutation in the lysosome trafficking regulator (LYST) gene and display some of the key characteristics of human Chèdiak-Higashi syndrome, in particular, a high susceptibility to infection due to aberrant natural killer (NK) cell and polymorphonuclear leucocyte function. Morphological analysis of beige mice reveals the pres...

Normal body mass index (BMI) can rule out metabolic syndrome: An Israeli cohort study.

The aim of the study was to assess whether body mass index (BMI) can be used as a simple and reliable survey test for metabolic syndrome.The study is an observational cohort study among patients who visited the Rambam Periodic Examinations Institute (RPEI). We analyzed the correlation between obesity indices and presence of metabolic syndrome. We identified the ideal value of BMI for identification of patients at risk for metabolic syndrome. We also described the correlation between different BMI values and...

Metabolic Syndrome and Insulin Resistance Syndrome among Infertile Women with Polycystic Ovary Syndrome: A Cross-Sectional Study from Central Vietnam.

Polycystic ovarian syndrome (PCOS) is one of the most common endocrinopathies among reproductive-age women. Its metabolic features often overlap with those associated with metabolic syndrome (MS) and insulin resistance syndrome (IRS). The objective of this study was to determine the prevalence and predictors of MS and IRS in infertile Vietnamese women with PCOS.

Metabolic syndrome among residents of Mizan-Aman town, South West Ethiopia, 2017: A cross sectional study.

Globally, it is estimated that around 20-25% adult population has metabolic syndrome. Individuals who have metabolic syndrome are up to five times more susceptible for chronic diseases than those who have no metabolic syndrome. In Ethiopia there is no sufficient information regarding the magnitude and factors of metabolic syndrome. The aim of this study is to assess prevalence and associated factors of metabolic syndrome among residents of Mizan-Aman town, South West, Ethiopia.

Relationship between premenstrual syndrome and basic personality traits: a cross-sectional study.

Although many studies have investigated premenstrual syndrome and related factors, there is still only a limited number of studies investigating the relationship between premenstrual syndrome and basic personality traits. This study was conducted to investigate the association between premenstrual syndrome and basic personality traits among university students.

Shared Medical and Environmental Risk Factors in Dry Eye Syndrome, Sjogren's Syndrome, and B-Cell Non-Hodgkin Lymphoma: A Case-Control Study.

To assess whether there are shared exposures associated with Sjogren's syndrome (SS), dry eye syndrome (DES), and B-cell non-Hodgkin lymphoma (B-NHL), in order to determine whether they are etiologically related.

Treatment in a Tertiary Intestinal Rehabilitation Center Improves Outcome for Children With Short Bowel Syndrome.

The aim of this study was to determine prognostic factors in pediatric patients with short bowel syndrome and very short bowel syndrome (defined as less than 25 cm of the bowel with or without colon). This was a retrospective, single-center, observational study that included patients with intestinal failure. Thirty-eight children with short bowel syndrome were included in the study (mean age at diagnosis = 8.4 [range = 0-48] months; female/male = 20/18); 12 children (31.6%) had very short bowel syndrome. We...

Psychological factors and premenstrual syndrome: A Spanish case-control study.

To assess whether the psychological variables perceived stress, neuroticism and coping strategies, are associated with Premenstrual Syndrome (PMS) and Premenstrual Dysphoric Syndrome (PMDD).

Randomised controlled trial to study the efficacy of exercise with and without metformin on women with polycystic ovary syndrome.

1. To study the efficacy of exercise in improving clinical symptoms, anthropometry, glucose tolerance and laboratory profile in women with Polycystic ovarian syndrome. 2. To study the combined efficacy of exercise and metformin on above parameters in women with polycystic ovary syndrome.

Development of metabolic syndrome after bilateral total thyroidectomy despite the l-t4 replacement therapy: A prospective study.

The literature about the frequency of metabolic syndrome in patients with multinodular goitre and a new onset of metabolic syndrome after total thyroidectomy is limited. The aim of this study was to investigate the effects of total thyroidectomy and thyroid hormones on a new onset of metabolic syndrome in patients who underwent total thyroidectomy and have received thyroid hormone replacement.

Osteoporosis and dry eye syndrome: A previously unappreciated association that may alert active prevention of fall.

Osteoporosis is a multifactorial disease associated with inflammation and hormone imbalance. It is noteworthy that dry eye syndrome shares a similar pathophysiology with osteoporosis. Both diseases are more prevalent among the elderly and females. Dry eye syndrome can result in impaired vision, which increases the risk of fall and fracture when osteoporosis exists. In this study, we investigated whether osteoporosis is associated with an increased risk of developing dry eye syndrome.

Evaluation of renin and angiotensin II levels in pseudoexfoliation syndrome.

Pseudoexfoliation syndrome has been linked to impaired function of the heart and blood vessels. We conducted a study to investigate the role of the renin-angiotensin system in the etiopathogenesis of pseudoexfoliation syndrome.

Bone status in relation to ambulatory performance in girls with Rett syndrome: a 10-year longitudinal study.

Low bone mass is a frequent and early complication of girls with Rett syndrome. As a consequence of the low bone mass, Rett patients are at an increased risk of fragility fractures. This study aimed to investigate the long-term influences of mobility on bone status in girls with Rett syndrome.

The association of trace elements with premenstrual syndrome, dysmenorrhea and irritable bowel syndrome in adolescents.

Premenstrual syndrome (PMS), primary dysmenorrhea (PD), and irritable bowel syndrome (IBS) are common complaints in women of reproductive age. Trace element status may be associated with the development of these disorders but the current data are unclear. The present study focused on the relationship between serum and dietary copper and zinc with some common physical and psychosomatic conditions among young females.

Long-Term Prognosis and Outcome Predictors in Takotsubo Syndrome: A Systematic Review and Meta-Regression Study.

This study assessed the incidence of long-term adverse outcomes in patients with Takotsubo syndrome (TTS).

Fine particulate matter and incidence of metabolic syndrome in non-CVD patients: A nationwide population-based cohort study.

It has been reported that particulate matter (PM) is associated with cardiovascular diseases (CVD) while metabolic syndrome is also an important risk factor for CVD. However, few studies have investigated the epidemiological association between PM and metabolic syndrome.

Burnout syndrome among third year medical students in Caen: Prevalence and associated factors.

Burnout syndrome is a reality in health professions. Many studies report a growing and alarming exhaustion among doctors and residents in France. However, medical studies deemed to be stressful, medical students could be also affected by this syndrome. Few studies are conducted in France at this stage of training, so we will focus our study on the sensitivity to burnout syndrome of students in pre-clerkship.

Spontaneous Breathing in Early Acute Respiratory Distress Syndrome: Insights From the Large Observational Study to UNderstand the Global Impact of Severe Acute Respiratory FailurE Study.

To describe the characteristics and outcomes of patients with acute respiratory distress syndrome with or without spontaneous breathing and to investigate whether the effects of spontaneous breathing on outcome depend on acute respiratory distress syndrome severity.

Predictive Value of Lipid Accumulation Product, Fatty Liver Index, Visceral Adiposity Index for Metabolic Syndrome According to Menopausal Status.

The aim of this study is to investigate the value of clinical indicators of metabolic syndrome according to menopausal status in healthy Korean women.

Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

Branchio-oto-renal (BOR) syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies, whereas patients with all symptoms except renal defects are diagnosed as branchio-oto (BO) syndrome. BOR/BO is one of the most common forms of autosomal dominant syndromic hearing loss, and EYA1 is the major causative gene. In this study, clinical and genetic analyses as well as auditory rehabilitation were performed in a Chinese family with BOR/BO syndrome.

Arrhythmias precede cardiomyopathy and remodeling of Ca handling proteins in a novel model of long QT syndrome.

Deletion of QKP1507-1509 amino-acids in SCN5A gene product, the voltage-gated Na channel Nav1.5, has been associated with a large phenotypic spectrum of type 3 long QT syndrome, conduction disorder, dilated cardiomyopathy and high incidence of sudden death. The aim of this study was to develop and characterize a novel model of type 3 long QT syndrome to study the consequences of the QKP1507-1509 deletion.

Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that is characterized by skin fibrofolliculomas, pulmonary cysts, and renal tumors. The objective of this study was to describe the features of Korean patients with BHD syndrome.

Metabolic Syndrome: Findings from 20 Years of the Tehran Lipid and Glucose Study.

In recent decades, investigations have been focused on the definition, incidence and predictors of metabolic syndrome (MetS) in Iranians. This study aimed to review systematically investigations on MetS, conducted among the Tehran lipid and glucose study (TLGS) participants.

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