Gardner's Syndrome is a variant of familial adenomatosis polyposis (FAP) with a triad consisting of polyps of the colon, multiple osteomas and surface tumors of soft and hard tissue. The intestinal polyps have a %100 risk of undergoing malignant transformation, therefore early identification of this disease is very important. There ...

Multiple endocrine neoplasia type 1 (MEN 1) is a rare syndrome inherited in an autosomal dominant pattern, characterized by combinations of tumors of the parathyroid glands, pituitary gland, and pancreatic islet cells and more rare tumors of endocrine organs and nonendocrine tissues. Germline mutations in the MEN1 gene are responsible ...

We report a 5-year-old boy with thiazide-resistant Bartter syndrome. This is highly unusual since thiazide hypersensitivity is a common diagnostic finding in Bartter syndrome patients. Subsequent molecular testing identified compound heterozygosity for two novel mutations in KCNJ1, (c.556A > G and c.683G > A) which is associated with Bartter syndrome, and a paternally inherited ...

Lowe syndrome, which is characterized by defects in the central nervous system, eyes and kidneys, is caused by mutation of the phosphoinositide 5-phosphatase OCRL1. The mechanisms by which loss of OCRL1 leads to the phenotypic manifestations of Lowe syndrome are currently unclear, in part, owing to the lack of an ...

BACKGROUND: Linear nevus sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system. CASE: We report the case of a 5-year-old girl who had LNSS with hypophosphatemic rickets and multiple fractures of her extremities. Biochemical tests revealed a high serum level ...

Up to 50% of patients with severe immune deficiency experience an excessive inflammatory response called immune reconstitution inflammatory syndrome (IRIS) after the initiation of antiretroviral therapy (ART). IRIS has been observed after various opportunistic infections with pathogens such as mycobacteria, including Bacille Calmette-Guérin, cryptococci, human herpesvirus-8, non-Hodgkin's lymphoma, and progressive ...

This study examines the relationship between adherence to different dietary patterns and the presence of metabolic syndrome and its components among Korean adults. The sample consisted of 406 Korean adults aged 22 to 78 years recruited from hospitals. Metabolic syndrome was defined according to the criteria issued by the Adult ...

Iatrogenic Cushing syndrome may occur as an undesirable outcome of high-dose glucocorticoids treatments. This may also cause hypothalamus-hypophysis-adrenal axis suppression. While this situation may be caused more frequently with oral and topical glucocorticoid therapy, iatrogenic Cushing syndrome in childhood, caused by steroid-containing nasal drops, is a rare event. Hereby, we ...

Shwachman Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by neutropenia, exocrine pancreatic dysfunction, and cancer predisposition. Patients are at risk for myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) but, unlike other IBMFS, there have been no reported cases of solid tumors. We report ...

The components of metabolic syndrome, such as obesity, hypertension, and diabetes, are thought to be associated with urolithiasis. However, there are few large-scale studies that have examined the association between metabolic syndrome and urolithiasis, which prompted us to study and evaluate the relationship between metabolic syndrome components and urolithiasis in ...

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. A persistent or intermittent neutropenia occurs in 88-100% of patients. Bone marrow biopsy usually reveals a hypoplastic specimen with ...

OBJECTIVE: Describe the experience that girls with Rett syndrome have with menstruation including menstrual hygiene, dysmenorrhea, premenstrual syndrome (PMS), and attempts at treatment. DESIGN: Anonymous web-based survey. SETTING: Convenience sample recruited from Rett syndrome LISTSERV in July of 2009. PARTICIPANTS: Mothers of girls with Rett syndrome between the ages of ...

The nosological status of schizoaffective disorders remains controversial. Twin studies are potentially valuable for investigating relationships between schizoaffective-mania, schizoaffective-depression, and other psychotic syndromes, but no such study has yet been reported. We ascertained 224 probandwise twin pairs [106 monozygotic (MZ), 118 same-sex dizygotic (DZ)], where probands had psychotic or manic ...

The extrinsic compression of the third part of the duodenum as it passes through the aorto-mesenteric angle is known as the superior mesenteric artery syndrome (SMAS). This syndrome is a rare mechanical cause of upper intestinal obstruction, with a reported incidence of between 0.2% and 0.78%. Clinical manifestations of SMAS ...

BACKGROUND: /st>Reports conflict on optimal postoperative analgesic treatment in children with intellectual disability. We retrospectively compared postoperative analgesics consumption between neonates with and without Down's syndrome in relation to anaesthesia requirements and pain scores. METHODS: /st>We analysed hypnotic and analgesic drug administration, pain scores [COMFORT-Behaviour (COMFORT-B) scale], and duration of ...

The majority of paediatric surgeons will encounter a patient with prune belly syndrome (PBS) only a few times in their clinical practice. There have been many opposing views in the literature regarding the pathogenesis and management of this complex condition. A detailed review was conducted using PubMed to identify key ...

The etiology of cryopyrin-associated periodic syndrome (CAPS) is caused by germline gene mutations in NOD-like receptor family, pryin domain containing 3 (NLRP3)/cold-induced autoinflammatory syndrome 1 (CIAS1). CAPS includes diseases with various severities. The aim of this study was to characterize patients according to the disease severity of CAPS. Five Japanese ...

The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ...

Objective To evaluate the 12-month effect of myo-inositol treatment on some biochemical parameters of women affected by metabolic syndrome. Methods Eighty outpatient postmenopausal women, affected by metabolic syndrome, were enrolled in a 12-month study. All women were treated with a low-energy diet, and then they were randomly assigned to myo-inositol ...

Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. In the eye, this condition manifests with varying degrees of anterior segment dysgenesis and carries a high risk of glaucoma. Other associated systemic issues include cardiovascular outflow tract malformations, craniofacial abnormalities and pituitary abnormalities, which can result in severe endocrinological ...

Science is fully retracting the report "Detection of an infectious retrovirus, XMRV, in blood cells of patients with chronic fatigue syndrome" (V. C. Lombardi et al., Science 326, 585 (2009); 10.1126/science.1179052)

This article presents a case of a 17-year-old girl with primary antiphospholipid syndrome developing subacute signs of hand and leg ischaemia caused by radiologically verified radial and popliteal artery occlusion. She is successfully treated with a thrombolytic agent (alteplase) and recovers completely. Her laboratory results came positive for all three ...

Postural tachycardia syndrome (POTS) refers to the presence of orthostatic intolerance symptoms with a heart rate increment ≥30 bpm, usually up to ≥120 bpm. Pathophysiology and POTS's clinical presentation are heterogeneous and its prognosis is uncertain. We reviewed the major clinical characteristics of POTS patients and assessed their long-term follow-up. Our series ...

Legionnaire's disease is a cause of community-acquired pneumonia (CAP) in normal hosts, but those with impaired cell-mediated immunity (CMI) and T-lymphocyte function are particularly predisposed to Legionella species CAP. Myelodysplastic syndrome (MDS) is a disorder of the elderly that is associated with impaired CMI. Cases of MDS or Legionella species ...

High-frequency deep brain stimulation targeting the output nucleus of the basal ganglia, the globus pallidus internus, has been suggested as a treatment modality for intractable Tourette syndrome and basal-ganglia-mediated motor tics. Recent studies on the modeling of motor tics induced by focal injections of bicuculline to the striatum, a putative ...

BACKGROUND AND PURPOSE:Hunter syndrome (MPS type II) is a rare X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency, characterized by frequent and variable brain and skull involvement. Our objective was determine the frequency of closed cephaloceles in a large cohort of subjects affected with Hunter syndrome and to investigate ...

BACKGROUND: Boerhaave syndrome is a rare and often fatal syndrome. Delayed diagnosis and treatment is closely associated with prolonged morbidity and increased mortality. In general, esophagography is usually chosen as the diagnostic procedure, but it has a relatively high false-negative rate. There are no reports, to our knowledge, regarding the ...

The major etiologies of chronic cough are generally accepted to consist of upper airway cough syndrome (formerly postnasal drip syndrome), eosinophilic airway inflammation (asthma, nonasthmatic eosinophilic bronchitis), and gastroesophageal reflux disease (GERD). However, only a small percentage of patients with these very common conditions suffers from chronic cough. Furthermore, acute ...

BACKGROUND & AIMS: Inflammation and oxidative stress plays a critical role in cardiovascular disease and metabolic syndrome often occurs with these two variables. The aim of the study is to estimate variations on cardiovascular risk factors in Metabolic Syndrome patients after consume of a citrus-based juice compared with control groups. ...

Pterygium syndromes are complex congenital disorders that encompass several distinct clinical conditions characterized by multiple skin webs affecting the flexural surfaces often accompanied by craniofacial anomalies. In severe forms, such as in the autosomal-recessive Bartsocas-Papas syndrome, early lethality is common, complicating the identification of causative mutations. Using exome sequencing in ...

Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagnosis of MPS II using dried blood spots (DBS). The assay compared well with a recently reported ...

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retrospective genotype-phenotype correlation studies have been performed. A number of general genotype-phenotype relationships were confirmed ...

The increasing global trend of obesity is a fundamental contributor to the growing prevalence of metabolic syndrome, a cluster of medical abnormalities including impaired glucose and lipid metabolism, obesity and hypertension. Results from animal and human investigations have shown that early life stress can result in weight gain and metabolic ...

Infections with Pseudomonas aeruginosa can cause the hot-foot syndrome, presenting with painful plantar erythematous nodules. Particularly, the mechanically stressed areas of the foot are affected after contact with contaminated water from saunas, swimming pools, hot tubs, etc. We report an outbreak of hot-foot syndrome caused by Pseudomonas in 10 patients. ...

Genetic counselors and parents of individuals with Down syndrome (DS) agree that descriptions of DS in prenatal settings should be "balanced." However, there is no consensus regarding what constitutes a balanced description of DS. A survey was designed in collaboration with, and sent to the membership of, the British Columbia ...

INTRODUCTION: The need for safe health care, in which the care and treatment of the patient does not cause any more injury to those already arising from their baseline disease, has led to the present study. Our objective has been to determine the frequency and to describe the neurological syndromes ...

Ectopic ACTH-syndrome is a rare cause of Cushing's disease. Despite extensive diagnostic procedures the source of ACTH secretion often remains occult.This case describes a 45-year old woman with an ectopic Cushing's syndrome. Extensive imaging procedures including CT scan of chest and abdomen, octreotide scan and MRI of the chest and ...

We report a case of severe ovarian hyperstimulation syndrome (OHSS) complicated by community-acquired methicillin-resistant Staphylococcus aureus-Panton-Valentine leukocidin positive (CAMRSA-PVL[+]) necrotizing pneumonia, sepsis and multiple organ failure (MOF) in a previously immunocompetent female. The patient required prolonged ventilatory support and intensive care unit (ICU) hospitalization. Multiple cavities and severely affected lung ...

Abstract Background: Low cholesterol and phospholipid plasma levels of some high-density lipoprotein (HDL) subclasses have been described in children with metabolic syndrome. Scavenger receptor class B type I (SR-BI) has been proposed to be at the origin of such HDL alterations because of its key role on cholesteryl esters-HDL metabolism. ...

Purpose: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating condition characterized by a number of symptoms which typically worsen following minimal exertion. Various strategies to manage the limited energy levels have been proposed. Of these, pacing has been consistently rated as one of the most helpful in surveys conducted by ...

Our knowledge about inherited susceptibility to adrenocortical carcinoma (ACC) almost exclusively stems from experiences with familial cancer susceptibility syndromes, which are caused by single gene mutations (e.g. Li-Fraumeni syndrome (LFS)). Population-based studies are largely unavailable. ACC diagnosed during childhood is known to be commonly part of hereditary cancer syndromes. Childhood ...

Extracranial involvement of the recurrent laryngeal and hypoglossal nerves, also known as Tapia's syndrome, is a rare complication of airway management under general anesthesia. We report such a case after an otherwise uncomplicated rhinoplasty. After reviewing the other nine reported cases of Tapia's syndrome, we found that half of the ...

Incidence of cardiovascular disease in patients with chronic autoimmune disorder like rheumatoid arthritis is much higher than in general population. Cardiovascular events (e.g. myocardial infarction or stroke) are caused by premature accelerated development of atherosclerosis. Chronic inflammation-enhanced atherosclerosis syndrome is proposed as a separate syndrome occurring in patients suffering of ...

The Brugada type 1 electrocardiographic (ECG) pattern and the early repolarization pattern (ERP) are 2 ECG patterns characterized by the appearance of J waves. Although Brugada type 1 ECG pattern in the context of the Brugada syndrome (BrS) is well known for predisposing to life-threatening ventricular arrhythmias, it has only ...

Primary biliary cirrhosis (PBC) has been often coined a model autoimmune disease based on the homogeneity amongst patients, the frequency and similarity of antimitochondrial antibodies, including the highly directed immune response to pyruvate dehydrogenase (PDC-E2). A significant number of patients with PBC suffer from sicca and amongst these, there are ...

Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he ...

National differences in licensing laws suggest that the use of medications for the treatment of Tourette syndrome differs between European countries. However, variability in prescribing practices has never been investigated. This study aims to systematically examine European prescribing practices in Tourette syndrome. All members of the European Society for the ...

Obstructive sleep apnea is associated with an increased prevalence of the metabolic syndrome and its components. It is unclear whether treatment of obstructive sleep apnea syndrome with continuous positive airway pressure (CPAP) would modify these outcomes. In our double-blind, placebo-controlled trial, we randomly assigned patients with obstructive sleep apnea syndrome ...

References: 1. Talkowski ME, Mullegama SV, Rosenfeld JA et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics 2011: 89, 551-563. 2. van Bon BW, Koolen DA, Brueton L et al. The 2q23.1 ...

INTRODUCTION: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, ...