Human idiopathic scoliosis is characterized by severe deformations of the spine and skeleton. The occurrence of vestibular-related deficits in these patients is well established but it is unclear whether a vestibular pathology is the common cause for the scoliotic syndrome and the gaze/posture deficits or if the latter behavioral deficits ...

OBJECTIVE: To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)-like phenotype. STUDY DESIGN: We examined 78 patients with PWS-like phenotype who lacked molecular defects for PWS. The MEG3 methylation test followed by microsatellite polymorphism analysis of chromosome 14 was ...

We report on a 21-year-old woman with classic phenylketonuria, who presented at our outpatient clinic at week 14 of pregnancy. Despite intensive preconceptional counselling about the risk of raised Phenylalanine (Phe) levels for the offspring and nutritional consultations about the necessity to be on a Phe-restricted diet she had elevated ...

The performances of surveillance systems for measles in Europe are poorly investigated, despite the fundamental role they should play in the early detection of outbreaks and in the assessment of the progress towards elimination. A new chief complaint syndrome surveillance system has been developed in Genoa, Italy, using data from ...

Platypnea-orthodeoxia (P-O) syndrome is an underdiagnosed condition characterized by dyspnea and deoxygenation accompanying a change from a recumbent to an upright position. It is caused by increased right-to-left shunting of blood on assuming an upright position. The diagnosis of this shunt is often challenging. A case where a diagnosis was ...

Persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism characterized by the presence of the Momicronllerian duct structures in an otherwise phenotypically as well as genotypically normal male. We report a case of 40-year-old cryptorchid male who was clinically diagnosed as seminoma in the undescended abdominal testis. ...

OBJECTIVE: To determine if the combination of fronto-maxillary facial (FMF) angle and nasal bone (NB) evaluation improves the detection of Down syndrome (DS) in the second trimester. STUDY DESIGN: We compared the FMF angle measurements in euploid and DS fetuses seen between 2005 and 2008. The FMF angles were measured ...

We report a case involving a 49-year-old woman with vascular loop syndrome. The patient was evaluated because of complaints of decreased hearing sensitivity in her right ear. Central auditory tests were performed. The patient was found to have an asymmetry on pure-tone audiometry and an auditory processing deficit, suggesting central ...

BACKGROUND: Kartagener syndrome is a type of primary ciliary dyskinesia. It is a rare autonomic recessive disorder with an estimated incidence of about 1 in 32,000 live births. In Nigeria, because of lack of availability of facilities for investigations in order to make a diagnosis, it has hardly been reported. ...

OBJECTIVES: Media reports suggest increased cardiovascular mortality in former National Football League (NFL) players. We previously demonstrated that current heavier players already have cardiometabolic syndrome markers: blood pressure (BP) >or=130/85 mm Hg, fasting glucose >or=100 mg/dL, triglycerides >or=150 mg/dL, waist circumference >or=100 cm, and high-density lipoprotein (HDL) <or=40 mg/dL. METHODS: ...

Confounding variables can affect the results from studies of children with Down syndrome and their families. Traditional methods for addressing confounders are often limited, providing control for only a few confounding variables. This study introduces propensity score matching to control for multiple confounding variables. Using Tennessee birth data as an ...

There is a substantial evidence that large quantities of melatonin are produced in gastrointestinal tract, however, is still unclear which is the role of melatonin in digestive system in human physiology and pathophysiology. In the present study we investigated urinary excretion of a main melatonin metabolite, 6-sulphatoxymelatonin, in patients with ...

Reel syndrome is a rare form of Twiddler's syndrome and is characterized by rotation of permanent pacemaker on its transverse axis and rolling of the electrode around the generator. An 83-year-old man with severely impaired mental status, agitation, and uncontrolled movement of extremities underwent pacemaker implantation for symptomatic atrial fibrillation. ...

Polycythemia vera (PV) is a common cause of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). The postpartum period is a precipitating cofactor. An additional heparin-induced thrombocytopenia/thrombosis (HIT/T) leads to a life-threatening condition in which transjugular intrahepatic portosystemic shunting (TIPS) seems to be the only life-saving procedure. We describe the ...

"Syndrome of the trephined" or "sinking skin flap syndrome" is an unusual syndrome in which neurological deterioration occurs following removal of a large skull bone flap. The neurological status of the patient can occasionally be strongly related to posture. A 77-year-old male patient with an acute subdural hematoma was treated ...

After the recovery of pneumocystis pneumonia, amebiasis, and cytomegalovirus duodenal ulcer in a patient with AIDS, antiretroviral therapy was initiated. Fever was first noted on the 11th day of administration of the highly active antiretroviral therapy (HAART), and chest radiography showed infiltration into the right lower lobe of the lung ...

We present an 11-year-old boy diagnosed as having acute encephalopathy and liver failure with the underlying condition of a metabolic dysfunction. He developed convulsions and severe consciousness disturbance following gastroenteritis after the ingestion of some fried rice. He showed excessive elevation of transaminases, non-ketotic hypoglycemia and hyperammonemia, which were presumed ...

CONTEXT: Many parents of children with Down syndrome (DS) have expressed dissatisfaction with how they learned about their child's diagnosis. DS remains the most common chromosomal condition, occurring in 1 of every 733 births, with the majority of children still diagnosed postnatally. OBJECTIVE: Our goal was to review systematically all ...

The aim of this study was to understand the role of enterocele in the pathogenesis of the obstructed defecation syndrome (ODS) a new defecographic classification based on function. A total of 597 patients (551 women, 46 men) who underwent cinedefecography between November 2001 and November 2005 were studied. A total ...

BACKGROUND AND OBJECTIVE: High levels of colonization by periodontopathic bacteria and a high prevalence of chronic inflammatory periodontal disease have been reported in children with Down's syndrome. Matrix metalloproteinases (MMPs) are mediators of extracellular matrix degradation and remodelling, and are deeply involved in the course of periodontal disease. To clarify ...

Leptospirosis is a zoonotic infection associated with severe diseases such as leptospirosis pulmonary haemorrhage syndrome (LPHS). The cause of pulmonary haemorrhage is unclear. Understanding which mechanisms and processes are involved in LPHS will be important in treatment regimens under development for this life-threatening syndrome. In the present study, we evaluated ...

BACE2 is homologous to BACE1, a beta-secretase that is involved in the amyloidogenic pathway of amyloid precursor protein (APP), and maps to the Down syndrome critical region of chromosome 21. Alzheimer disease neuropathology is common in Down syndrome patients at relatively early ages, and it has thus been speculated that ...

Magnetic resonance imaging studies using voxel-based morphometry (VBM) have been inconsistent in demonstrating volumetric differences in patients with restless legs syndrome (RLS). Since treatment, age and selection of patients may introduce a methodological bias, we conducted optimized VBM analyses in unmedicated elderly subjects reporting RLS. Two hundred-four voluntaries, 65.9 +/- ...

A prospective multicenter study of cryptococcal immune reconstitution inflammatory syndrome (IRIS) was conducted as a substudy of the Bacteriology and Mycology Study Group 3-01. Of 101 AIDS patients with cryptococcal meningitis who received highly active antiretroviral therapy (HAART), 13 experienced cryptococcal IRIS. No association between the timing of HAART initiation ...

BACKGROUND: Although many studies have reported high early mortality among patients enrolled in antiretroviral therapy (ART) programs in sub-Saharan Africa-particularly among those individuals with advanced immunodeficiency-few studies have reported the most common causes of these early deaths. METHODS: We determined cause-specific mortality and the contribution of immune reconstitution inflammatory syndrome ...

The genetic factors determining the progression of prodromal syndromes to first episode schizophrenia have remained enigmatic to date. In a unique prospective multicentre trial, we assessed whether variants at the D-amino acid oxidase activator (DAOA)/G72 locus influence progression to psychosis. Young subjects with a prodromal syndrome were observed prospectively for ...

BACKGROUND: Tricuspid regurgitation in hypoplastic left heart syndrome has an impact on outcome, but its mechanisms remain unclear. METHODS AND RESULTS: Real-time 3-dimensional echocardiography was performed in 35 patients with hypoplastic left heart syndrome (age, 1 month to 10 years; 10 after first-stage Norwood, 12 after superior cavopulmonary shunt, 13 ...

The idiopathic syndrome of cloacal prolapse was observed in the frog Litoria rheocola at 2 sites in the Wet Tropics of Australia; 1 of 365 individuals (0.3%) at Tully Gorge National Park and 5 of 92 individuals (5.4%) at Murray Upper National Park. The condition appeared to have resolved spontaneously ...

OBJECTIVE: POEMS syndrome with its classical five findings (Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes) is a rare multisystem disease. Proinflammatory and proangiogenic cytokines play important roles in its pathogenesis. Treatment options are still debated. METHODS: We present a 65-year-old man with POEMS syndrome who was successfully treated with ...

BACKGROUND: In patients with severe central nervous system (CNS) diseases, life-threatening hyponatremia results from two main causes: the syndromes of inappropriate secretion of antidiuretic hormone (SIADH) and cerebral salt wasting (CSW). Clinical manifestations of the two conditions may be similar but their pathogeneses are fundamentally diverse. Distinguishing SIADH from CSW ...

A 7-year-old boy with a history of VACTERL syndrome was found collapsed in bed. MRI had shown basilar invagination of the skull base and narrowing of the foramen magnum. Angulation, swelling and abnormal high signal at the cervicomedullary junction were felt to be secondary to compression of the medulla. Neuropathologic ...

A real-time PCR assay, based on Primer-Probe Energy Transfer (PriProET), was developed to improve the detection and quantification of porcine circovirus type 2 (PVC2). PCV2 is recognised as the essential infectious agent in post-weaning multisystemic wasting syndrome (PMWS) and has been associated with other disease syndromes such as porcine dermatitis ...

Down syndrome is characterized by disproportionately severe impairments of speech and language, yet little is known about the neural underpinnings of these deficits. We compared fMRI activation patterns during passive story listening in 9 young adults with Down syndrome and 9 approximately age-matched, typically developing controls. The typically developing group ...

OBJECTIVE: To assess the specificity of tricuspid regurgitation (TR) in prediction of Down syndrome in Thai fetuses at 17-23 weeks' gestation and to determine the prevalence of TR among normal chromosome fetuses in a high-risk population. MATERIAL AND METHOD: A prospective study was performed in 395 high-risk pregnant women who ...

A 13-year-old, spayed female golden retriever was referred for further evaluation of ascites, characterized as a modified transudate, detected after an episode of acute collapse. Prior to referral, the dog was treated for suspected right-sided heart failure and developed ventricular tachycardia. On referral, echocardiography ruled out cardiac causes for the ...

Lymphedema can be present in patients affected by Turner syndrome (TS) with the dorsum of the hands and feet most commonly affected. This lymphedema results from underdevelopment of the lymphatic system before birth, and it usually decreases during childhood. The aim of our study was to evaluate the role of ...

Monobloc frontofacial advancement with distraction is becoming more routinely used within craniofacial surgery for faciocraniosynostosis, because of the simultaneous correction obtained on the exorbitism and of the respiratory impairment. Reossification of the cranium and zygomatic bone in monobloc frontofacial advancement with distraction has not been assessed previously on long series. ...

Conclusion: The concept of hearing loss severity must be redefined, as there is a clear need for more active hearing management in Alport's syndrome patients with severe and profound hearing loss. Objectives: Sensorineural hearing loss (SNHL) caused by Alport's syndrome generally does not exceed 60-70 dB, because a cochlear lesion ...

OBJECTIVE: To study the distribution and development rules of the TCM syndromes in psoriasis vulgaris. METHODS: Based on the clinical epidemiologic mass survey, the study was carried out by means of a status survey, multi-center and large-sample research. The data base was set up by EPIINFO6.0. The SPSS was used ...

OBJECTIVE: To determine whether Scyphomedusa jellyfish with eversion syndrome had alterations in husbandry conditions, elemental content, or histologic appearance, compared with unaffected jellyfish. ANIMALS: 123 jellyfish (44 with eversion syndrome and 79 without) at 6 institutions. PROCEDURES: Elemental analyses were performed on 24 jellyfish with eversion syndrome and 49 without, ...

Akinetic mutism is an uncommon clinical syndrome characterized by the inability to produce voluntary movements or speech without loss of awareness. Cerebrovascular diseases are the most frequent etiology. It has been reported in cyclosporine-related neurotoxicity, but it is exceptional as the presenting form of tacrolimus intoxication. We report the case ...

Once widespread across western and southern Australia, wild populations of the western barred bandicoot (WBB) are now only found on Bernier and Dorre Islands, Western Australia. Conservation efforts to prevent the extinction of the WBB are presently hampered by a papillomatosis and carcinomatosis syndrome identified in captive and wild bandicoots, ...

The aim of this study was to assess the prevalence of idiopathic restless legs syndrome (RLS) and its correlations in a sample of Medical School faculty members. A transversal study was conducted at a Medical School in the south of Brazil included 78 faculty members. The subjects answered to a ...

Tramadol is a synthetic, centrally acting analgesic for the treatment of moderate to severe pain. It is widely used because of its efficacy and safety. A normal-dose tramadol has less adverse effects than other opioids. Multiply organ dysfunction syndrome due to tramadol intoxication is rare.We present a case of 19-year-old ...

Fas Ligand (FasL) expression by cancer cells may contribute to tumour immune escape via the Fas counterattack against tumour-infiltrating lymphocytes (TILs). Whether this plays a role in colorectal carcinogenesis in Lynch syndrome was examined studying FasL expression, tumour cell apoptosis and number of TILs in colorectal neoplasms from Lynch syndrome ...

BACKGROUND: Dumping syndrome is one of ten most common complications in morbidly obese patients operated. Recent studies in relation to type 2 diabetes mellitus (DM2) in patients submitted to gastric bypass led us to examine the different outcomes in this group of patients. Our objective was to determine the difference ...

BACKGROUND: An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes. METHOD: A systematic review of the current literature regarding the association with ASD and ASD characteristics was conducted in the following syndrome groups: ...

As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); M??bius sequence (M??bius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced ...

PURPOSE: Dysfunctional elimination syndrome is a heterogeneous syndrome with no widely accepted diagnostic criteria. Previously developed questionnaires provide incomplete psychometric assessment. We developed a discriminative questionnaire for diagnosing dysfunctional elimination syndrome and assessed its validity and reliability. MATERIALS AND METHODS: A 14-item 5-point Likert scale questionnaire was devised using literature ...

Previous studies on grammatical gender in French individuals with Williams syndrome (WS) have led to conflicting findings and interpretations regarding keys abilities--gender attribution and gender agreement. New production data from a larger WS sample (N=24) showed that gender attribution scores in WS participants exactly mirrored those of controls: all groups ...