At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive vascular malformations are ...

To review the clinical aspects of ovarian hyperstimulation syndrome and provide recommendations on its diagnosis and clinical management. These guidelines will assist in the early recognition and management of ovarian hyperstimulation. Early recognition and prompt systematic supportive care will help avert poor outcomes. Medline, Embase, and the Cochrane database were ...

Four small-breed dogs were diagnosed with acquired Fanconi syndrome. All dogs ate varying amounts of chicken jerky treats. All dogs were examined for similar clinical signs that included, but were not limited to, lethargy, vomiting, anorexia, diarrhea, and altered thirst and urination. The quantity of chicken jerky consumed could not ...

Down syndrome appears to be associated with a virtually certain risk of fibrillar amyloid-β (Aβ) pathology by the age of 40 and a very high risk of dementia at older ages. The positron emission tomography (PET) ligand florbetapir F18 has been shown to characterize fibrillar Aβ in the living human ...

Psoriasis is a chronic inflammatory and immune-mediated disease associated with several comorbidities, such as obesity, hypertension, diabetes mellitus, dyslipidemia and cardiovascular disorder. These comorbidities are components of metabolic syndrome. The pathogenesis of metabolic syndrome is supposed to be related to increased levels of adipocytokines, such as tumor necrosis factor-α (TNF-α) ...

Bilateral pleural effusions usually have a single causative factor, such as heart failure or malignancy. Contarini's syndrome refers to the occurrence of bilateral pleural fluid accumulation which can be explained by a different cause for each side. Literature search finds, along with 5 new descriptions from our center, totaled 12 ...

OBJECTIVES: To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants with PRS, and contrast the interventions provided to children with isolated and syndromic PRS. STUDY DESIGN: The study involved retrospective chart reviews at 2 ...

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel ...

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome Lindhurt, Marjorie J. et all The New England Journal of Medicine 2011; 365:611-9.

Abstract Objective: The aim of this study was to determine if an increasing number of traits of metabolic syndrome was associated with an increased severity of each of the traits. Methods: A cohort of otherwise healthy 387 Latin-American subjects was evaluated for traits of metabolic syndrome according to National Cholesterol ...

Obesity is a chronic inflammatory disease and is considered a risk factor for metabolic syndrome. In this study, 57 obese adolescents with and without metabolic syndrome underwent 1 year of weight loss therapy. At baseline, the metabolic syndrome (MS) patients presented higher values of PAI-1 than the non-metabolic syndrome patients (n-MS). ...

The posterior fossa syndrome (PFS) consists of transient cerebellar mutism, cognitive symptoms and neurobehavioural abnormalities that typically develop in children following posterior fossa tumour resection. Although PFS has been documented in more than 350 paediatric cases, reports of adult patients with a vascular aetiology are extremely rare. In addition, the ...

We report the first case of Susac syndrome in Koreans, in a 23-yr-old female patient who presented with sudden visual loss and associated neurological symptoms. Ophthalmic examination and fluorescein angiography showed multiple areas of branch retinal artery occlusion, which tended to recur in both eyes. Magnetic resonance imaging showed dot-like, ...

2-5% of patients undergoing hip or knee arthroplasty develop a symptomatic DVT; there is evidence to suggest that without prophylaxis 40-60% of patients have a subclinical DVT. This can be reduced by around half with appropriate thromboprophylaxis; there still remains a significant incidence of subclinical DVT. Therefore, it is important ...

In recent years, understanding of the syndromes of neurodegeneration with brain iron accumulation (NBIA) has grown considerably. In addition to the core syndromes of pantothenate kinsase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified. The acknowledged clinical spectrum has broadened, age-dependent presentations have ...

Beginning in early May 2011, northern Germany was the principal site of a massive epidemic of bloody diarrhea and the hemolytic-uremic syndrome caused by Shiga-toxin-producing Escherichia coli. By the time the outbreak ended in early July, there were reports of more than 4000 illnesses, 800 cases of the hemolytic-uremic syndrome, ...

BACKGROUND: Preeclampsia is characterised by an imbalance of circulating pro- and anti-angiogenic factors. The syndrome of haemolysis, elevated liver enzymes and low platelet count (HELLP) develops mostly on the ground of preeclampsia, and one of its important features is the severe disturbance of the coagulation system, intravascular coagulopathy. Thrombospondin-1 (TSP-1) ...

The purpose of this study was to systematically review the available evidence on lumbar paraspinal compartment syndrome with specific reference to patient demographics, aetiology, types, diagnosis, clinical features, and treatment. This was an Institutional Review Board-exempt study performed at a Level 1 trauma center. A PubMed search was conducted with ...

ABSTRACT: BACKGROUND: We aimed to evaluate the effects of chest and motor physiotherapy treatment on hemodynamic variables in preterm newborns with respiratory distress syndrome. Methods: We evaluated heart rate (HR), respiratory rate (RR), systolic (SAP), mean (MAP) and diastolic arterial pressure (DAP), temperature and oxygen saturation (SO2%) in 44 newborns ...

Intersectin 1 (ITSN1) is a human chromosome 21 (HSA21) gene product encoding a multidomain scaffold protein that functions in endocytosis, signal transduction, and is implicated in Down's syndrome, Alzheimer's Disease, and potentially other neurodegenerative diseases through activation of c-Jun N-terminal kinase. We report for the first time that ITSN1 proteins ...

Aromatase, an enzyme located in the endoplasmic reticulum of estrogen-producing cells, catalyzes the rate-limiting step in the conversion of androgens to estrogens in many tissues. The clinical features of patients with defects in CYP19A1, the gene encoding aromatase, have revealed a major role for this enzyme in epiphyseal plate closure, ...

Abstract Alagille syndrome is a rare autosomal dominant condition characterised by mutation in Jagged1 gene. Intracranial aneurysms may be seen in this condition and may present as subarachnoid hemorrhage.We describe the first case of superior cerebellar aneurysm rupture causing WFNS grade 1 subarachnoid haemorrhage in a 17-year-old girl. The clinical ...

PURPOSE: To study the prevalence of metabolic syndrome in patients with bipolar disorder. MATERIAL AND METHOD: By using purposive random sampling 200 patients with bipolar disorder receiving treatment were evaluated for presence of metabolic syndrome using International Diabetes Federation (IDF) and modified National Cholesterol Education Program Adult Treatment Panel III ...

ABSTRACT: Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core ...

Background:  Pancreatectomy affects gastrointestinal (GI) symptoms. Our purpose was to assess the quality of life of pancreatectomy patients in relation to GI function. Methods:  Pancreatectomy patients were asked qualitative, open-ended questions about symptoms. They also completed the Gastrointestinal Symptom Rating Scale (GSRS) for reflux syndrome, acute pain syndrome, indigestion syndrome, ...

Abstract Objective: To describe oral manifestations in Brazilian individuals with Kabuki Syndrome (KS), a multiple congenital anomaly/mental retardation syndrome. Study design: Sixteen KS individuals aged between 8 to 24 years of both sexes were referred by the Department of Clinical Genetics, for oral treatment and follow-up, to the Oral Care ...

PURPOSE:: The purpose of the study was to report a patient with Seckel syndrome associated with high intraocular pressures despite intensive antiglaucoma treatment. METHODS:: Case report. RESULTS:: High intraocular pressure readings in both eyes measured with the Goldman applanation tonometer, bilateral pigmentary retinopathy and total cupping of optic discs were ...

Although periorbital edema is a common manifestation of dermatomyositis (DM), generalized subcutaneous edema associated with DM is extremely rare. Evans syndrome is an autoimmune disease in which an individual's antibodies attack one's own red blood cells and platelets. Evans syndrome is rarely a presenting feature of DM. DM has been ...

Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical ...

The dystonias are a heterogeneous group of hyperkinetic movement disorders characterised by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Dystonia syndromes represent common movement disorders and yet are often misdiagnosed or unrecognised. In recent years, there have been substantial advances in the understanding of the ...

We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI type III) based on clinical and radiological findings. Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of ...

Papular-purpuric "gloves and socks" syndrome is a distinctive dermatosis featuring acral pruritus, edema, and petechiae. It has been attributed in most-but not all-reported cases to Parvovirus B19 infection, on the grounds of serological proof of recent infection or detection of viral DNA by polymerase chain reaction in patient serum or ...

ABSTRACT: The objectives of this review are to describe advances in understanding the mechanisms, and provide an update of current and promising therapy directed at the gut or the brain in the treatment of irritable bowel syndrome (IBS). The diagnosis of IBS is typically based on identification of symptoms, such ...

IntroductionThere are no well-established criteria for patients with corticobasal syndrome. The authors have attempted to clarify this area by comparing and applying three sets of well-known criteria (from Toronto, the Mayo Clinic and Cambridge).Patient and methodsThe authors first compared the three criteria for overlap and differences, and then applied them ...

Objective: To report a case of Churg-Strauss syndrome who had asthma and allergic rhinitis treated with montelukast. Clinical Presentation and Intervention: A nonsmoking 59-year-old woman presented with fever, hemoptysis and dyspnea. Past medical history included allergic rhinitis and asthma which were diagnosed 18 years ago. The asthma was treated successfully ...

ABSTRACT: Study Design. Analysis of the National Inpatient Sample database from 2000 to 2008.Objective. To identify if metabolic syndrome is an independent risk factor for increased major perioperative complications, cost, length of stay and non-routine discharge.Summary of Background Data. Metabolic syndrome is a combination of medical disorders that has been ...

To determine the prevalence of restless legs syndrome (RLS) in patients with irritable bowel syndrome (IBS). Patients with diarrhea-predominant IBS (n = 30), constipation-predominant IBS (n = 30), or mixed-symptom IBS (n = 30) were recruited from the community between March 2008 and February 2009. Rifaximin 200 mg three times ...

In this issue of Molecular Cell, Hirschey et al. demonstrate that loss of the NAD(+)-dependent deacetylase SIRT3 and resultant mitochondrial protein hyperacetylation play a critical role in the pathogenesis of metabolic syndrome, providing new insights into the therapeutic potential of SIRT3.

  Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A ...

  The objective of this study was to describe the clinical features of Sweet syndrome in children. Our study population consisted of seven children diagnosed with Sweet syndrome over a 22-year period. Age, sex, appearance and location of lesions, associated signs and symptoms, past medical history, pathology, and subsequent disease ...

Infections particularly Mycoplasma pneumoniae and HSV have been reported to be the commonest precipitating cause for Stevens Johnson syndrome (SJS) in children in developed countries and drugs are the commonest triggers reported in the Indian context. Intravenous immunoglobulin (IvIg) is emerging as a therapeutic option instead of glucocorticoids. The authors ...

Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic genetic disorder characterized by pigmentary skin changes, distinctive dysmorphology, developmental delay, and mosaicism for tetrasomy of chromosome 12p. The authors report a case of PKS in a 2-y-old boy. He had pigmentary skin changes, characteristic facial features, developmental delay and ...

We describe a patient with a variant of the hypoplastic left heart syndrome who died 16 weeks after a modified stage 1 Norwood from a mitochondrial DNA depletion syndrome.

  Blue rubber bleb nevus syndrome, or Bean syndrome, is a rare sporadic disorder of venous malformations of the skin and internal viscera. We report a rare case of blue rubber bleb nevus syndrome with gastrointestinal and central nervous system involvement.

THE study aim was to test whether the metabolic syndrome or its components predicted cognitive decline among persons aged 80 years and older (mean 85.0 years). Participants were members of the "Keys to Optimal Cognitive Aging Project," a prospective cohort study in Okinawa, Japan. Metabolic syndrome was assessed at baseline. ...

Bilateral ocular ischemic syndrome and ischemic optic neuropathy have rarely been reported as initial manifestations of Takayasu arteritis (TA). Appearance of ocular symptoms in TA is related to the extent and severity of involvement of the aorta and its major branches. We report a case of bilateral ocular ischemic syndrome ...

Cowden syndrome is a rare, autosomal-dominant, multisystem disorder characterized by hamartomatous tissue overgrowth and an increased risk of breast, thyroid, and endometrial cancers. Most of the cases arise from germline mutations of the phosphatase and tensin homologue tumor suppressor gene. An association with colon cancer remains unproven but has been ...

Terson syndrome is a known complication of subarachnoid hemorrhage (SAH) that causes potentially reversible vision loss. It develops after SAH because of vitreous hemorrhage caused by retinal capillary disruption. Case series report an incidence of Terson syndrome in approximately 8%-15% of patients with SAH. Nonetheless, the medical literature regarding this ...

The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH). Molecular analysis of the 17q21.31 microdeletion/duplication syndrome demonstrated a critical region involving at least six genes, including STH and MAPT. The 17q21.31 microdeletion syndrome has an incidence of ...

Congenital heart defects (CHD) are associated with the recurrent 10q22q23 deletion syndrome and with partially overlapping distal 10q23.2.q23.31 microdeletions. We report on a denovo intragenic deletion of the BMPR1A gene in a normally developing adolescent boy with short stature, delayed puberty, facial dysmorphism and an atrioventricular septal defect. Based on ...