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https://www.readbyqxmd.com/read/27933517/a-novel-mutation-in-the-fibrinogen-a%C3%AE-chain-gly13arg-fibrinogen-nanning-causes-congenital-dysfibrinogenemia-associated-with-defective-peptide-a-release
#1
Jie Yan, Meiling Luo, Peng Cheng, Lin Liao, Xuelian Deng, Donghong Deng, Faquan Lin
Dysfibrinogenemia is characterized by blood coagulation dysfunction induced by an abnormal molecular structure of fibrinogen. Here, we describe a new case. A 32-year-old female was suspected of having dysfibrinogenemia during routine laboratory screening, based on her decreased functional fibrinogen level, normal fibrinogen antigen level, and prolonged thrombin time. We extracted DNA and performed polymerase chain reaction and DNA sequencing to identify genetic mutation. Fibrin polymerization, the kinetics of the fibrinopeptide release, scanning electron microscopy, mass spectrometric analysis, fibrin cross-linking, sodium dodecyl sulfate polyacrylamide gel electrophoresis and western blot were conducted...
December 8, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27933343/-conservative-treatment-of-congenital-patellar-dislocation
#2
D Zajonz, E Schumann, M Wojan, M Moche, C-E Heyde
This article presents the rare case of a boy who was born in our hospital with valgus deformity and external rotation of the right lower leg because of congenital patellar dislocation. In the case presented a stable repositioning of the patella could be achieved by redressment with a plaster cast and leg brace. During a 4-year follow-up there were no tendencies towards dislocation during the clinical examination and no dislocation events were documented. In selected cases an attempt at conservative repositioning and retention treatment appears to be worthwhile before surgical treatment is indicated...
December 8, 2016: Der Orthopäde
https://www.readbyqxmd.com/read/27933170/growth-of-a-progesterone-receptor-positive-meningioma-in-a-female-patient-with-congenital-adrenal-hyperplasia
#3
T O'Shea, R K Crowley, M Farrell, S MacNally, P Govender, J Feeney, J Gibney, M Sherlock
: Meningioma growth has been previously described in patients receiving oestrogen/progestogen therapy. We describe the clinical, radiological, biochemical and pathologic findings in a 45-year-old woman with congenital adrenal hyperplasia secondary to a defect in the 21-hydroxylase enzyme who had chronic poor adherence to glucocorticoid therapy with consequent virilisation. The patient presented with a frontal headache and marked right-sided proptosis. Laboratory findings demonstrated androgen excess with a testosterone of 18...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27933154/improving-diagnosis-for-congenital-cataract-by-introducing-ngs-genetic-testing
#4
Mohammud Musleh, Jane Ashworth, Graeme Black, Georgina Hall
Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequencing (NGS) has been shown to be effective in providing an underlying diagnosis in 70% of patients with CC in a research setting. This project aimed to integrate NGS testing in CC within six months of presentation and increase the rate of diagnosis...
2016: BMJ Quality Improvement Reports
https://www.readbyqxmd.com/read/27933089/a-rare-inherited-15q11-2-q13-1-interstitial-duplication-with-maternal-somatic-mosaicism-renal-carcinoma-and-autism
#5
Nora Urraca, Brian Potter, Rachel Hundley, Eniko K Pivnick, Kathryn McVicar, Ronald L Thibert, Christopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L Sirois, Stormy Chamberlain, Lawrence T Reiter
Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here, we describe a unique family with an interstitial 15q11.2-q13.1 maternal duplication and the presence of somatic mosaicism in the mother. She is typically functioning, but formal autism testing showed mild ASD. She had several congenital anomalies, and she is the first 15q Duplication case reported in the literature to develop unilateral renal carcinoma...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27932480/magi2-mutations-cause-congenital-nephrotic-syndrome
#6
Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D Inward, Hugh J McCarthy, Michael A Simpson, Graham M Lord, Maggie Williams, Gavin I Welsh, Ania B Koziell, Moin A Saleem
Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27932460/protein-o-linked-mannose-%C3%AE-1-4-n-acetylglucosaminyltransferase-2-pomgnt2-is-a-gatekeeper-enzyme-for-functional-glycosylation-of-%C3%AE-dystroglycan
#7
Stephanie M Halmo, Danish Singh, Sneha Patel, Shuo Wang, Melanie Edlin, Geert-Jan Boons, Kelley W Moremen, David Live, Lance Wells
Disruption of the O-mannosylation pathway involved in functional glycosylation of α-dystroglycan gives rise to congenital muscular dystrophies. Protein O-linked mannose β-1,4-N-acetylglucosaminyltransferase 2 (POMGNT2) catalyzes the first step towards the functional matriglycan structure on α-dystroglycan that is responsible for binding extracellular matrix proteins and certain arenaviruses. Alternatively, protein O-linked mannose β-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) catalyzes the first step towards other various glycan structures present on α-dystroglycan of unknown function...
December 8, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27932172/liver-transplantation-in-an-adult-recipient-with-situs-inversus-totalis-case-report-and-review-of-the-literature
#8
P Tabrizian, T T Joseph, P Radkani, E Cohen, M Facciuto
BACKGROUND: Over the past few decades, reports have demonstrated the feasibility of liver transplantation in adult patients with situs inversus. However, this disease entity remains rare and experience remains limited in adult recipients with situs inversus undergoing transplantation. METHODS: A 23-year-old woman with situs inversus totalis and end-stage liver disease secondary to congenital biliary atresia was referred to our center and underwent a successful orthotopic liver transplantation...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932089/clinical-and-neuroimaging-findings-in-two-brothers-with-limb-girdle-muscular-dystrophy-due-to-lama2-mutations
#9
Elizabeth Harris, Meriel McEntagart, Ana Topf, Hanns Lochmüller, Kate Bushby, Caroline Sewry, Volker Straub
Recessive mutations in LAMA2 commonly cause congenital muscular dystrophy (MDC1A) and, rarely, limb girdle muscular dystrophy (LGMD). We report 2 brothers who presented in adulthood with LGMD due to novel mutations in LAMA2 identified by whole exome sequencing (WES). Muscle biopsy more than 30 years ago demonstrated dystrophic changes but was not available for immunoanalysis. Muscle MRI demonstrated involvement of peripheral muscle with internal sparing classically seen in collagen-VI related disorders. Extensive genetic testing, including COL6A1/2/3, was performed prior to WES...
November 3, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27932079/urinary-continence-outcomes-following-vaginoplasty-in-patients-with-congenital-adrenal-hyperplasia
#10
John Stites, Kerlly J Bernabé, Denise Galan, Diane Felsen, Dix P Poppas
BACKGROUND: Feminizing genitoplasty techniques have diversified to encompass the spectrum of atypical genitalia in 46,XX congenital adrenal hyperplasia (CAH) patients. However, long-term outcomes evaluating postoperative continence following complex vaginoplasty remain scarce. OBJECTIVE: The aim was to review our surgical experience and assess postoperative urinary continence outcomes in CAH patients following complex, primary vaginoplasty. STUDY DESIGN: We retrospectively reviewed CAH patients who underwent complex, primary vaginoplasty at a single center by a single surgeon from 1996 to 2013...
November 22, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27931725/body-weights-in-adults-with-congenital-heart-disease-and-the-obesity-frequency
#11
Joseph B Lerman, Ira A Parness, Rajesh U Shenoy
Obesity may associate with greater cardiovascular risk in adults with congenital heart disease (ACHD) than in the general population. As ACHD often have exercise limitations, they may be uniquely predisposed to obesity. Nevertheless, obesity prevalence in ACHD, compared with the general population, has not been quantified in a large US cohort. Hence, we sought to determine the prevalence of obesity (30 ≤ body mass index <40) and morbid obesity (body mass index ≥40), in a large cohort of ACHD, compared with matched controls...
November 16, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27931439/policy-on-third-party-reimbursement-for-oral-health-services-related-to-congenital-and-acquired-orofacial-anomalies
#12
(no author information available yet)
No abstract text is available yet for this article.
October 2016: Pediatric Dentistry
https://www.readbyqxmd.com/read/27931195/prediction-of-spontaneous-closure-of-isolated-ventricular-septal-defects-in-utero-and-postnatal-life
#13
Xing Li, Gui-Xian Song, Li-Jie Wu, Yu-Mei Chen, Yi Fan, Yun Wu, Ya-Hui Shen, Li Cao, Ling-Mei Qian
BACKGROUND: Ventricular septal defect (VSD) is a highly prevalent fetal congenital heart defect, which can become spontaneously closed during infancy. The current study aims to characterize fetal VSDs that were subsequently spontaneously closed in the first 2 years of life in eastern China. METHODS: Between January 2011 and December 2013, 257 fetal patients diagnosed with isolated VSD by fetal echocardiography at Nanjing Maternity and Child Health Care Hospital, China, were enrolled in the study...
December 8, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27931082/pharmacotherapeutic-considerations-for-individuals-with-down-syndrome
#14
Erik J Hefti, Javier G Blanco
Down syndrome (DS, trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and dental problems, seizure disorders, leukemia, dementia, and obesity. These associated conditions may necessitate pharmacotherapeutic management with various drugs. The complex pathobiology of DS may alter drug disposition and drug response in some individuals. For example, reports have documented increased rates of adverse drug reactions in patients with DS treated for leukemia and dementia...
December 8, 2016: Pharmacotherapy
https://www.readbyqxmd.com/read/27931021/a-retrospective-analysis-of-neonatal-encephalocele-predisposing-factors-and-outcomes
#15
Seyho Cem Yucetas, Necati Uçler
OBJECTIVE: This study evaluates the predisposing factors and outcomes of surgical management of encephaloceles at our institution. MATERIALS AND METHODS: A retrospective analysis of 32 occipital encephaloceles managed operatively at the Neurosurgery Department Clinics of the Faculty of Medicine, Adıyaman University, was performed between 2011 and 2015. RESULTS: Among the study population, 19 mothers had been exposed to TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus), 18 were in consanguineous marriages, and 3 had regular prenatal screening...
December 9, 2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27930776/a-congenital-nasal-mass-causing-respiratory-distress
#16
Kaveh Karimnejad, Rebecca L Rohde, Dary J Costa
No abstract text is available yet for this article.
December 8, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27930594/revision-surgery-after-pregnancy-in-a-patient-with-congenital-kyphoscoliosis-a-case-report
#17
Zhikun Li, Fei Wang, Wei Xu, Yifan Li, Xiaodong Zhu
RATIONALE: Rod breakage during pregnancy and delivery has never been described in a patient who has undergone surgery for congenital scoliosis (CS). Here, we present an unusual but significant case of revision surgery. PATIENT CONCERNS: A 29-year-old woman presented with low back pain during pregnancy after posterior osteotomy, correction and fusion at T9 to L5 for CS. Radiographs during follow-up, 4 months after the patient gave birth, demonstrated rod breakage...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27930557/application-of-array-comparative-genomic-hybridization-in-tetralogy-of-fallot
#18
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Dong Wu, Tao Li, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang, Cheng-Zeng Wang
To explore the underlying pathogenesis and provide references for genetic counseling and prenatal gene diagnosis, we analyzed the chromosome karyotypes and genome-wide copy number variations (CNVs) in 86 patients with tetralogy of Fallot (TOF) by G-banding karyotype analysis and array-comparative genomic hybridization (aCGH), respectively. And then quantitative polymerase chain reaction was used to validate these candidate CNVs. Based on their different properties, CNVs were categorized into benign CNVs, suspiciously pathogenic CNVs, and indefinite CNVs...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27930515/usefulness-of-the-maximum-rate-of-pressure-rise-in-the-central-and-peripheral-arteries-after-weaning-from-cardiopulmonary-bypass-in-pediatric-congenital-heart-surgery-a-retrospective-analysis
#19
Jung-Won Kim, Ji-Yeon Bang, Chun Soo Park, Mijeung Gwak, Won-Jung Shin, Gyu-Sam Hwang
The maximum rate of pressure rise (dP/dtmax) in radial artery has been proposed as a noninvasive surrogate of aortic dp/dtmax, reflecting left ventricular (LV) contractility in children. The aim of this study was to investigate relationship between aortic and radial dp/dtmax at weaning from cardiopulmonary bypass (CPB) and usefulness of these indices for estimating postoperative outcomes in pediatric congenital heart surgery.Aortic and radial arterial pressure waveforms were analyzed simultaneously during weaning from CPB in 29 congenital heart surgery...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27930424/characterizing-the-occluded-lacrimal-punctum-using-anterior-segment-optical-coherence-tomography
#20
Hannah M Timlin, Pearse A Keane, Geoffrey E Rose, Daniel G Ezra
PURPOSE: Epiphora is sometimes associated with an absent or occluded lacrimal drainage punctum (or puncta). This study uses noninvasive "enhanced depth" anterior segment optical coherence tomography (OCT) to give improved characterization and understanding of absent or fully occluded puncta and the underlying canaliculus. METHODS: Anterior segment spectral domain OCT images were collected prospectively from 9 lower puncta of 6 patients with epiphora and absent or fully occluded puncta, not amenable to dilation in clinic, to see if a canaliculus was visible on OCT imaging below the occluded punctum...
December 7, 2016: Ophthalmic Plastic and Reconstructive Surgery
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