Abstract Objective: We investigated the prognostic relevance of ultrasound visibility of distendend jugular lymphatic sacs (JLS) in fetuses with aberrant karyotypes in First-trimester-screening. Furthermore we tried to differentiate between increased nuchal translucency (NT) and cystic hygroma colli. Methods: We performed a retrospective single center study in 1874 patients presenting for ...

Purpose:The aim of this study was to examine Lynch syndrome screening of patients with metastatic colorectal cancer in integrated health-care-delivery organizations.Methods:We determined the availability of Lynch syndrome screening criteria and actual Lynch syndrome screening in the medical records of 1,188 patients diagnosed with metastatic colorectal cancer between 2004 and 2009 ...

This study determined the prevalence of classical onconeural Ab in a series of 2063 consecutive patients that were investigated because of suspicion of PNS as well as evaluated individual onconeural Ab in relationship to the clinical spectrum of associated neurological syndromes and tumor types detected in 70 patients finally diagnosed ...

Hereditary cancer syndromes in children and adolescents are becoming more recognized in the field of pediatric hematology/oncology. A recent workshop held at the American Society of Pediatric Hematology/Oncology (ASPHO) 2012 Annual Meeting included several interactive sessions related to specific familial cancer syndromes, genetic testing and screening, and ethical issues in ...

A male child with clinical features consistent with EEC/EECUT plus syndrome (ectrodactyly, ectodermal dysplasia, clefting, urinary tract abnormalities, and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, cleft palate, bilateral hydronephrosis, and T cell lymphopenia is reported. He was noted to have T cell receptor excision circle ...

Purpose:Routine screening for evidence of DNA mismatch repair abnormalities can identify colorectal cancer patients with Lynch syndrome, but impact in usual care settings requires study. After implementing routine screening at our university and safety-net health systems as usual practice, our aims were to determine outcomes, including screening process quality.Methods:We conducted ...

BACKGROUND: There is a lack of systematic studies into comorbidity of Asperger syndrome and psychosis. AIM: To determine the prevalence of Asperger syndrome among patients of an early intervention in psychosis service. METHODS: This study was a cross-sectional survey consisting of three phases: screening, case note review and diagnostic interviews. ...

The Hunter Outcome Survey (HOS), an international, long-term observational registry of patients with Hunter syndrome, was used to develop a simple mnemonic screening tool (HUNTER) to aid in the diagnosis of Hunter syndrome. Data regarding the prediagnosis prevalence of ten specific signs and symptoms present in individual patients enrolled in ...

Abstract Background: Metabolic syndrome is a cluster of risk factors for cardiovascular disease and type 2 diabetes. Physical activity can decrease these risks. Many randomized clinical trials to increase physical activity have demonstrated disappointing results, and implementation in daily practice appeared to be difficult. The aim of this study was ...

We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome ...

Allopurinol is a drug that has been used for decades to lower serum urate levels in patients with gout or chronic renal failure and in cancer patients undergoing chemotherapy at risk of tumor lysis syndrome. Patients may develop cutaneous hypersensitivity reactions, ranging from mild rashes to potentially fatal severe cutaneous ...

Objective To evaluate the impact of implementing a Down syndrome (DS) screening policy in England, which is a strategy of the Combined Screening Test, (CST) and assessing the impact this has had on reducing invasive diagnostic procedure rates. Methods All English cytogenetic laboratories were asked to submit prenatal data from ...

Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan. ...

Interferon Regulatory Factor 6 (IRF6) is a member of the IRF family of transcription factors. It has been suggested to be an important contributor to orofacial development since mutations of the IRF6 gene has been found in Van der Woude (VWS) and popliteal pterygium syndromes (PPS), two disorders that can ...

To survey the knowledge and attitudes towards Down syndrome screening in the final year of training of Thai obstetrics and gynaecology residents. A self-administered structured questionnaire of knowledge and attitudes towards Down syndrome screening was developed One hundred thirty six residents were asked to respond to the questionnaire on their ...

It is not rare for the radiologist to identify multiple renal masses and be the first to raise the possibility of a hereditary renal tumor syndrome. Characteristic renal and extrarenal imaging findings aid in making the correct diagnosis. The imaging findings, screening guidelines, and management techniques for the most common ...

We report on clinical and molecular findings of a 15-year-old female referred to our genetics clinic for a diagnostic evaluation due to mild developmental delay, submucosal cleft palate, and seizure disorder. Chromosomal microarray technology revealed a cancer predisposition due to a terminal deletion on chromosome 19p that includes the tumor ...

INTRODUCTION: Lynch syndrome was first described in the 1950s however until recently it was rarely included in medical school curricula. As a result, many practicing physicians have limited exposure, potentially contributing to significant under diagnosis. As identification of Lynch syndrome prior to malignancy allows for intensified screening, prophylactic surgery and ...

We audited indications and outcomes of antiphospholipid syndrome (APS) screening in the pregnant population at our centre. Prospective and observational. All APS test results returned were audited for validity of indication and subsequent outcome. 24 of a total of 146 (16%) of requests for the antiphospholipid antibodies and lupus anticoagulant ...

Diagnosis of hereditary colorectal cancer syndromes requires clinical suspicion and knowledge of such syndromes. Lynch syndrome is the most common cause of hereditary colorectal cancer. Other less common causes include familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome, and others. There have been a growing number of clinical ...

Congenital hand deformities are frequent, usually isolated anomalies, but may exist as part of a syndrome. The spectrum of upper limb anomalies is broad.

A 30-year-old woman with a normal first trimester Down syndrome screening attended our ultrasound unit for a 20-week scan. The most remarkable anomalies were the presence of a right aortic arch along with a dilated cavum septi pellucidi. In addition, the scan showed an atrioventricular canal and bilateral choroid plexus ...

The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey. Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of ...

A woman presented with broad complex tachycardia. She was converted to sinus rhythm with intravenous amiodarone and continued on oral amiodarone. The amiodarone was stopped 3 weeks later as she was pregnant. Electrocardiogram (ECG) then revealed coved-type ST elevation in C1, suggestive of Brugada syndrome, and widespread inferior ST elevation. ...

Abstract A 74-year old gentleman with a cranio-cervical abscess failed to improve after incision and drainage and standard intravenous antibiotic therapy. Imaging demonstrated thrombosis of the internal jugular vein, sigmoid sinus and transverse sinus; and microbiological analysis isolated Fusobacterium nucleatum. The diagnosis of Lemierre's syndrome was confirmed, and he was ...

Syncope occurring in the setting of head and neck malignancy may have several possible causes. Local effects of a tumour in the parapharyngeal area may produce a syncopal syndrome similar to carotid sinus hypersensitivity, but with distinctive differentiating features. This article presents a case of profound vasodepressor syncope in a ...

Silent sinus syndrome is defined as a spontaneous and progressive enophthalmos and hypoglobus with hypoplasia of the maxillary sinus and resorption of the orbital floor. It is caused by atelectasis of the maxillary sinus in the presence of ipsilateral chronic hypoventilation of the sinus. The problem may be idiopathic, but ...

A full-term female infant with severe unilateral microphthalmos and ipsilateral orbital hemangioma in the setting of PHACE syndrome was successfully managed with oral propranolol therapy and subsequent orbital conformer placement. After 3 months of systemic propranolol therapy, the orbital hemangioma had shown significant regression without systemic or local complications. The ...

Background:Silent sinus syndrome is characterised by spontaneous enophthalmos and hypoglobus, in association with chronic atelectasis of the maxillary sinus, and in the absence of signs or symptoms of intrinsic sinonasal inflammatory disease. Traditionally, correction of the enophthalmos involved reconstruction of the orbital floor, which was performed simultaneously with sinus surgery. ...

Patients with syndromic craniosynostosis suffering from shallow orbits due to midface hypoplasia can be treated with a Le Fort III advancement osteotomy. This study evaluates the influence of Le Fort III advancement on orbital volume, position of the infra-orbital rim and globe. In pre- and post-operative CT-scans of 18 syndromic ...

Congenital coronary sinus anomalies are unusual and they rarely coexist with accessory atrio-ventricular pathways. These anomalies are generally symptomatic; however they can cause difficulty in mapping. The association between accessory pathway and coronary sinus anomalies may suggest an embryological link. Here, we report on a male patient with an accessory ...

A 45-year-old patient presented with bilateral orbital abscesses. He was found to have Lemierre syndrome, a condition involving septic thrombophlebitis of the internal jugular vein. The patient developed severe proptosis, sepsis, and cavernous sinus thrombosis. Despite aggressive antibiotic and anticoagulation therapy, visual loss was rapid, and the patient ultimately died. ...

Cracking the neck is an age-old practice in contravention of its dangerous affects. One of these affects is Brain stem strokes and in this report we describe a patient with Wallenberg syndrome due to neck cracking who is the one of the rare cases in the literature.

In this study, we examined the preliminary concurrent validity of a brief version of the Prodromal Questionnaire (PQ-B), a self-report screening measure for psychosis risk syndromes. Adolescents and young adults (N=141) who presented consecutively for clinical assessment to one of two early psychosis research clinics at the University of California, ...

Sparse scalp hair, a peculiar shape of the nose, and cone-shaped epiphyses of the phalanges are the hallmarks of the tricho-rhino-phalangeal syndromes (TRPS). Short stature, hip dysplasia, and malformations of inner organs including mitral valve prolpase have also often been described for these conditions. Here, we described a 64-year-old woman ...

An 8-year old girl with Prader-Willi Syndrome presenting with excessive daytime sleepiness improved following treatment with tryptophan; possibly by consolidation of her fragmented sleep. Improvement was recorded on a follow-up sleep study, one year after initiating treatment with tryptophan. We conclude that tryptophan may be an useful medication for excessive ...

Henoch-Schönlein purpura (HSP) is usually followed by mild renal involvement, but heavy proteinuria may also occur. Limited experience with cyclosporin A in children shows reduction of proteinuria. In this report, the use of cyclosporin A in 5 adult HSP patients with nephrotic-range proteinuria is described. Cyclosporin A in combination with ...

The restless legs syndrome is not only common and frequently unrecognized but research has revealed that the limb symptoms are only part of the clinical picture. Abnormalities of dopamine availability in the CNS have been demonstrated and suggest new approaches to treatment.

Background:  Severe haemolysis caused by an immune reaction to ceftriaxone has mostly been described in patients with underlying haematological or immune dysfunction. So far this situation has not been recognised in congenital nephrotic syndrome patients. Case Report:  The authors present a 20-month-old boy with congenital nephrotic syndrome of the Finnish ...

BACKGROUND & AIMS: The prevalence of and the most appropriate way to diagnose the primary biliary cirrhosis (PBC)-autoimmmune chronic hepatitis (AIH) overlap syndrome are uncertain. We investigated the prevalence of PBC and AIH, and their level of overlap, at a tertiary referral center, along with clinical, biochemical, and serological characteristics. ...

The aim of this retrospective study is to investigate the frequency and severity of ovarian hyperstimulation syndrome and the pregnancy rate in a patient collective at risk who received bromocriptine treatment.

Restless legs syndrome is a neurological disorder characterized by an urgency to move the legs during periods of rest. Data from a variety of sources provide a compelling argument that the amount of iron in the brain is lower in individuals with restless legs syndrome compared with neurologically normal individuals. ...

BACKGROUND: Total gastrectomy causes numerous disorders, such as reflux esophagitis, dumping syndrome, malabsorption, and malnutrition. To minimize the consequences, different variants of reconstruction are performed. The aim of our study is the comparison of two reconstructive methods: the standard Roux-en-Y and a new modality of pouch interposition, preduodenal-pouch interposition. This ...

Background: Pramipexole and ropinirole have become the first-line treatment for restless legs syndrome. The aim of this study was to perform the first direct comparison between these two molecules in restless legs syndrome. Methods: A double-blind, placebo-controlled, double-night and prospective investigation was carried out in 45 consecutive naïve patients with ...

A 35-year-old female presented with three days' history of aching discomfort in her back, chest, and ankles. She had also noticed increasing weakness of her legs and a week before admission had shown flu-like symptoms. Chest X-ray showed bilateral hilar and right paratracheal lymphadenopathy. Bronchoscopic biopsies revealed non-caseating granuloma. She ...

Compartment syndrome caused by an infiltrated intravenous catheter has been previously reported, but there are no reports of compartment syndrome caused by fluids and/or medications dispensed by a properly functioning drug infusion pump. A case in which a commonly used drug infusion pump delivered propofol and remifentanil under high pressure, ...

The syndrome of hemiparkinsonism-hemiatrophy is an uncommon form of secondary Parkinsonism that presents with unilateral body Parkinsonism plus variable atrophy on the same side. Diagnosis of this syndrome needs a complete past medical history taking, as well as assessment of the familial history, clinical examination and complete paraclinical tests.The response ...

Severe cutaneous adverse reactions include syndromes such as drug reaction with eosinophilia and systemic symptoms (DRESS) or drug-induced hypersensitivity syndrome (DIHS) and Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN). An important advance has been the discovery of associations between HLA alleles and many of these syndromes, including abacavir-associated hypersensitivity reaction, allopurinol-associated ...

Cyclical Cushing's syndrome is a pattern of hypercortisolism in which the biochemistry of cortisol production fluctuates rhythmically. This syndrome is often associated with fluctuating symptoms and signs. It is now being increasingly recognised. The phenomenon is important because it can, if not recognized, lead to errors in diagnosis and differential ...

We describe an analysis of the responses of 605 adults with experience with Down syndrome, Marfan syndrome, or neurofibromatosis (NF) to the BNE Scale, a scale specifically designed to assess the background, needs, and expectations (BNE) of genetic counseling patients. Significant group differences were found. Specifically, the respondents in the ...