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Zhou Dan D Department of Epidemiology & Biostatistics, Zhejiang University School of Public Health, Hangzhou 310058, - - 2014
. This study aimed to evaluate the diagnostic value of Waist-to-Height Ratio (WHtR) in early detection of obesity and metabolic syndrome in Chinese children and adolescents. . A cross-sectional study was conducted in six cities in China in 2010 with 16,914 children and adolescents aged 7-17 years. Participants were randomly ...
Kidambi Trilokesh D TD Department of Internal Medicine, University of California, San Francisco, 1701 Divisadero, Suite 120, San Francisco, CA, 94115, USA, - - 2014
Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC) and confers increased risk of other cancers. Identification of patients improves morbidity and mortality. Screening tumors for absent mismatch repair (MMR) protein expression by immunohistochemistry (IHC) is a recommended approach. Despite guidelines advocating universal screening, significant variation in ...
Kohorst Mira A MA Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, - - 2014
Though membranous nephropathy is a much more common cause of nephrotic syndrome in the adult population, it accounts for only a small fraction of cases in pediatrics. We report a case of a 16-year-old boy with nephrotic syndrome due to membranous nephropathy in the setting of a rare tumor, angiomatoid ...
Vora Neeta L NL Departments of Obstetrics and Gynecology, University of North Carolina-Chapel Hill, Chapel Hill, North Carolina, and Alpert Medical School at Brown University, Women and Infant's Hospital, Providence, Rhode - - 2014
The identification of circulating cell-free fetal DNA in maternal plasma has led to the introduction of noninvasive prenatal tests with high sensitivity and high specificity for common aneuploidies (trisomy 13, trisomy 18, trisomy 21). A new expanded noninvasive prenatal testing panel that includes five microdeletion syndromes (22q11 deletion syndrome, cri-du-chat ...
Cooper Paige E PE Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri, - - 2014
ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in multiple tissues. Mutations in ABCC9 cause Cantú syndrome, a distinct multi-organ disease, ...
Quinn Molly M Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California- San Francisco School of Medicine, San Francisco, California. Electronic address: - - 2014
To describe the prevalence of androgenic alopecia (AGA) in patients with polycystic ovary syndrome (PCOS) and to characterize associated clinical and biochemical features. Cross-sectional study. Multidisciplinary PCOS clinic at a tertiary academic center. A total of 254 women with PCOS according to the Rotterdam criteria were systematically examined from 2007 ...
Palomaki Glenn E GE Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert Medical School of Brown University, Providence, RI, USA. Electronic address: - - 2014
To determine how the adoption of the new WHO 5th International Standard (IS 07/364) will affect the suitability of total βhCG as a marker for second trimester Down syndrome screening, compared to the current WHO 3rd IS (75/537). Assays employing both standards were evaluated on the Beckman Coulter DxI platform. ...
Martin Claire A CA Department of Cardiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, - - 2014
A 52-year-old man was found to have a severely dilated aortic root and a Stanford type A dissection on familial screening echocardiography, following diagnosis of a dilated aorta in his son. The dissection required urgent surgical repair. Clinical examination suggested features of Loeys-Dietz syndrome type II, and subsequent demonstration of ...
Merilainen Anna A Department of Obstetrics and Gynecology, Oulu University Hospital, - - 2014
To evaluate the efficacy of first trimester combined screening for Down's syndrome in Northern Finland during the first 10 years of practice. During 1 January 2002 to 31 December 2011, 47,896 women participated voluntarily in combined screening during first trimester. The risk cutoff was 1:250. The study period was divided ...
Sehgal Rishabh R Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland. - - 2014
Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%-70% lifetime risk of colorectal cancer, 40%-60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 ...
Pasick Christina - - 2013
Objective. Asymmetric crying facies (ACF) is congenital hypoplasia of the depressor anguli oris muscle characterized by asymmetry of lower lip depression during crying. This has an overall incidence of 0.6%. This study determines the incidence of ACF in a large population of patients with 22q11.2 deletion. Patients and Methods. A ...
Chen Chih-Ping - - 2013
We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 microdeletion in a fetus with omphalocele, ventricular septal defect, increased nuchal translucency, abnormal first-trimester maternal screening and facial dysmorphism with distinct features of the 3q duplication syndrome and Kleefstra syndrome. The 26.61-Mb duplication of 3q26.31-q29 ...
Hutchins Keith L - - 2013
Early screening is key for patients, such as those with Down syndrome, at high risk for associated diseases. Slipped capital femoral epiphysis and hypothyroidism require a high level of suspicion, screening, and early referral to avoid long-term complications.
Yan Siyi - - 2013
Telomerase disfunction leads to short telometric overhangs, potentially resulting in chromosome instability. To better understand the role of overhang length in the progression of myelodysplastic syndrome (MDS). Bone marrow samples of 62 Chinese MDS patients were screened for TERT and TERC gene variants. Overhangs length was investigated. No mutation was ...
Kosilek R P - - 2013
Cushing's syndrome causes considerable harm to the body if left untreated, yet often remains undiagnosed for prolonged periods of time. In this study we aimed to test whether face classification software might help in discriminating patients with Cushing's syndrome from healthy controls.Diagnostic study.Using a regular digital camera, we took frontal ...
Raymond Victoria M - - 2013
A 62-year old female patient was initially diagnosed with a histologically confirmed trichodiscoma. Due to the association of trichodiscomas with Birt-Hogg-Dubé Syndrome (BHD), the patient underwent screening for renal tumors, which revealed a heterogeneous right adrenal mass (Figure 1a). The patient did not have any clinical hormone excess. This article ...
Hopman Saskia M J - - 2013
Identification of tumour predisposition syndromes in patients who have cancer in childhood is paramount for optimal care. A screening instrument that can help to identify such patients will facilitate physicians caring for children with cancer. The complete screening instrument should consist of a standardised series of pictures and a screening ...
Lammens F - - 2013
Newborn hearing screening was implemented in Flanders about fifteen years ago. The aim of this study was to determine the aetiology of hearing loss detected by the Flemish screening programme. From 1997 to 2011, 569 neonates were referred to our tertiary referral centre after failed neonatal screening with Auditory Brainstem ...
Halder Ashutosh - - 2013
Background & objectives: Microdeletion syndromes are characterized by small (<5 Mb) chromosomal deletions in which one or more genes are involved. These are frequently associated with multiple congenital anomalies. The phenotype is the result of haploinsufficiency of genes in the critical interval. Fluorescence in situ hybridization (FISH) technique is commonly ...
Hermida Jean-Sylvain - - 2013
Brugada syndrome is a genetic heart disease with autosomal dominant inheritance. Family screening commonly detects one parent responsible for transmission of the disease. To describe atypical transmission of Brugada syndrome. Between 2001 and 2007, systematic screening, including an electrocardiogram, ajmaline challenge and DNA sequencing of the SCN5A gene, of the ...
Illa Miriam - - 2013
Objective: To assess the feasibility of nasal bone (NB), ductus venosus (DV) and tricuspid flow (TF) at the 11-13 weeks' scan, calculate likelihood ratios for each of the markers and evaluate their efficacy in expanded and contingent screening strategies for Down syndrome. Material and Methods: NB, DV and TF were ...
Eckmann-Scholz Christel - - 2013
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 ...
Cross Deanna S - - 2013
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 ...
Gromadzka Grażyna - - 2013
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 ...
Schiffman Joshua D - - 2013
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 ...
Giampietro Philip F - - 2013
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 ...
Marquez Evelyn - - 2013
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 ...
Davidson Conor - - 2013
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. ...
Cohn Gabriel M GM Global Medical Affairs Shire Human Genetic Therapies, Inc, 300 Shire Way, Lexington, MA 02421, USA. - - 2013
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 ...
Jansen Hanneke - - 2013
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 ...
Mutlu Gül Yesiltepe - - 2013
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 ...
Lam May P S - - 2013
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 ...
Morgan Sian - - 2013
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 ...
Tran-Viet Khanh-Nhat - - 2013
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. ...
Kor-anantakul Ounjai - - 2013
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 ...
Wu-Chou Yah-Huei - - 2013
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 ...
Lin Shin-Yu - - 2013
A retrospective analysis of the Taiwanese National Birth Defect Registration and Notification System was conducted in order to determine the live birth- and stillbirth rates in infants with Down syndrome, trisomy 18, trisomy 13 and Turner syndrome between 2001 and 2010. The objective was to investigate the impact of Down ...
Nakamichi Kenichi - - 2013
Ultrasonography is useful for the management of carpal tunnel syndrome. It aids in the diagnosis of idiopathic cases, screening of local pathologies(space-occupying lesions, tenosynovitis, and bone and joint abnormalities), incomplete release, and anatomic variations, and performance of low-invasive surgery.
Northrup Benjamin E - - 2012
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 ...
Scollon Sarah - - 2012
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 ...
Frey Melissa K - - 2012
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 ...
Valayatham Vijayan - - 2012
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 ...
Mishra Nitin - - 2012
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 ...
Smith Gillian D - - 2012
Congenital hand deformities are frequent, usually isolated anomalies, but may exist as part of a syndrome. The spectrum of upper limb anomalies is broad.
Morales-Roselló José J Servicio de Obstetricia y Ginecología, Hospital de la Plana, 12540 Villarreal, - - 2012
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 ...
Edwards James M JM Department of Obstetrics and Gynecology, Duke University Medical Center, DUMC Box 3616, Durham, NC, - - 2012
► Cowden Syndrome is a rare hereditary cancer syndrome, which confers an increased risk of breast, thyroid, endometrial and colon cancer. ► Atypical polypoid adenomyoma does not generally represent a premalignant lesion, but must be carefully screened for foci of malignancy. ► Cancer screening must be intensified for patients who ...
Ataman Ahmet Doğan AD Department of History of Medicine, Vienna Medical Faculty, Vienna, - - 2012
Down syndrome (DS) is one of the most common chromosomal disorders with mental retardation and some spesific physical and physiological defects. Recently, many advances have been made in pre-natal screening and detection; and the hope is that identification of more genes will lead to a better understanding of the molecular ...
Temur Ismail I Department of Obstetrics and Gynecology, University of Kafkas, Kars, - - 2012
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 ...
Lee Chee-Wan - - 2011
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. ...
Price Kathryn - - 2011
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 ...
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