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Congenital abnormality

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https://www.readbyqxmd.com/read/30335141/a-recurrent-missense-variant-in-slc9a7-causes-nonsyndromic-x-linked-intellectual-disability-with-alteration-of-golgi-acidification-and-aberrant-glycosylation
#1
Wujood Khayat, Anna Hackett, Marie Shaw, Alina Ilie, Tracy Dudding-Byth, Vera M Kalscheuer, Louise Christie, Mark A Corbett, Jane Juusola, Kathryn L Friend, Brian M Kirmse, Jozef Gecz, Michael Field, John Orlowski
We report two unrelated families with multigenerational nonsyndromic intellectual disability segregating with a recurrent de novo missense variant (c.1543C>T:p.Leu515Phe) in the alkali cation/proton exchanger gene SLC9A7 (also commonly referred to as NHE7). SLC9A7 is located on human X chromosome at Xp11.3 and has not yet been associated with a human phenotype. The gene is widely transcribed, but especially abundant in brain, skeletal muscle and various secretory tissues. Within cells, SLC9A7 resides in the Golgi apparatus, with prominent enrichment in the trans-Golgi network (TGN) and post-Golgi vesicles...
October 17, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30334734/congenital-zika-virus-infection-with-normal-neurodevelopmental-outcome-brazil
#2
Alessandra Lemos de Carvalho, Carlos Brites, Tânia Barreto Taguchi, Suely Fernandes Pinho, Gúbio Campos, Rita Lucena
We describe a case of a 20-month-old girl with probable congenital Zika virus infection and normal neurodevelopment, despite microcephaly and abnormal neuroimaging. This case raises questions about early prognostic markers and draws attention to the need for investigation in suspected Zika cases, even if the child's early neurodevelopment is normal.
November 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/30334300/maternal-right-ventricular-function-uteroplacental-circulation-in-first-trimester-and-pregnancy-outcome-in-women-with-congenital-heart-disease
#3
Anne S Siegmund, Marlies A M Kampman, Martijn A Oudijk, Barbara J M Mulder, Gertjan Tj Sieswerda, Steven V Koenen, Yoran M Hummel, Monique W M de Laat, Krystyna M Sollie-Szarynska, Henk Groen, Arie P J van Dijk, Dirk J van Veldhuisen, Caterina M Bilardo, Petronella G Pieper
OBJECTIVE: Pregnant women with congenital heart disease (CHD) have an increased chance of abnormal uteroplacental flow (UPF) measured from second trimester onwards. This is related to pregnancy complications affecting mother and baby. Maternal right ventricular (RV) dysfunction has been suggested as predisposing factor. First trimester UPF screening, followed by therapeutic strategies, is effective in preventing pregnancy complications. The study aim was to relate first trimester UPF measurements to pre-pregnancy maternal cardiac function and pregnancy complications...
October 17, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/30333293/-postoperative-abnormal-liver-function-in-children-with-heart-surgery
#4
Lian Duan, Guohuang Hu, Meng Jiang, Chengliang Zhang
To investigate the incidence of postoperative abnormal liver function test (aLFT) for the children with heart surgery, and to analyze the clinical characteristics and risk factors.
 Methods: A total of 143 children younger than 18 years old who underwent heart surgery in 2017 were enrolled in this study. The liver function were examined one day preoperation and consecutive 5 days after operation. The clinical data of perioperative period were recorded and the risk factors for aLFT were analyzed.
 Results: There were 43/143 (30%) cases had aLFT, including 5/143 (3...
September 28, 2018: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/30333228/jnk-mediated-phosphorylation-of-sarm1-regulates-nad-cleavage-activity-to-inhibit-mitochondrial-respiration
#5
Hitoshi Murata, Cho Cho Khine, Akane Nishikawa, Ken-Ichi Yamamoto, Rie Kinoshita, Masakiyo Sakaguchi
Mitochondrial dysfunction is a key pathological feature of many different types of neurodegenerative disease. Sterile alpha and Toll/interleukin receptor motif-containing protein 1 (SARM1) has been attracting much attention as an important molecule for inducing axonal degeneration and neuronal cell death by causing loss of nicotinamide adenine dinucleotide (NAD). However, it has remained unclear what exactly regulates the SARM1 activity. Here, we report that NAD+ cleavage activity of SARM1 is regulated by its own phosphorylation at serine 548...
October 17, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/30332747/dyrk1a-protein-a-promising-therapeutic-target-to-improve-cognitive-deficits-in-down-syndrome
#6
REVIEW
Anis Feki, Youssef Hibaoui
Down syndrome (DS) caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment, early onset of Alzheimer's disease, congenital heart disease, hypotonia, muscle weakness and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Among the numerous protein coding genes of HSA21, dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A ( DYRK1A ) encodes a proline-directed serine/threonine and tyrosine kinase that plays pleiotropic roles in neurodevelopment in both physiological and pathological conditions...
October 16, 2018: Brain Sciences
https://www.readbyqxmd.com/read/30329053/hematopoietic-and-neural-crest-defects-in-zebrafish-shoc2-mutants-a-novel-vertebrate-model-for-noonan-like-syndrome
#7
HyeIn Jang, Erin Oakley, Marie Forbes-Osborne, Melissa Kesler, Rebecca Norcross, Ann C Morris, Emilia Galperin
The extracellular signal-related kinase 1 and 2 (ERK1/2) pathway is a highly conserved signaling cascade with numerous essential functions in development. The scaffold protein Shoc2 amplifies the activity of the ERK1/2 pathway, and is an essential modulator of a variety of signaling inputs. Germline mutations in Shoc2 are associated with the human developmental disease known as Noonan-like syndrome with loose anagen hair (NSLH). Clinical manifestations of this disease include congenital heart defects, developmental delays, distinctive facial abnormalities, reduced growth and cognitive deficits along with hair anomalies...
October 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30328904/phonological-acquisition-in-children-with-early-treated-congenital-hypothyroidism-association-with-clinical-and-laboratory-parameters
#8
Ana Paula Dassie-Leite, Mara Behlau, Suzana Nesi-França, Monica Nunes Lima, Luiz de Lacerda
PURPOSE: To evaluate the phonological characteristics of children with congenital hypothyroidism (CH). METHODS: Observational, analytical, cross-sectional, ambispective study including prepubertal children with CH (n=100; study group, SG) and controls without CH ( n=100; control group, CG). Assessments included a speech language pathology interview, the phonological evaluation of the ABFW Child Language Test, medical data, and neuropsychological tests in the first three years of life...
October 11, 2018: CoDAS
https://www.readbyqxmd.com/read/30328208/coronary-artery-fistula-detected-with-transesophageal-echocardiography-an-unexpected-cause-of-pulmonary-hypertension-and-chest-pain
#9
Emrah Erdogan, Murat Cap, Cagdas Topel, Suleyman C Efe, Ahmet S Gurbuz
Coronary artery fistulae are congenital cardiac abnormalities characterized by an abnormal communication between a coronary artery and a cardiac chamber, systemic or pulmonary vessel. Most of the cases are asymptomatic and are discovered incidentally during an angiography. We describe a rare case of a right coronary artery fistula draining to the right atrium, manifesting in chest pain and pulmonary arterial hypertension (PAH). The fistula was detected on transesophageal echocardiography during the workup for PAH...
October 16, 2018: Echocardiography
https://www.readbyqxmd.com/read/30327743/surgical-treatment-of-idiopathic-enlargement-of-the-right-atrium
#10
Francesca Chiara Surace, Federica Iezzi, Massimo Colaneri, Marco Pozzi
Idiopathic enlargement of the right atrium (IERA) is a very rare abnormality. Approximately one-half (48%) of the patients with a congenital enlargement of the right atrium have no symptoms. When they occur, symptoms include shortness of breath (28% of cases), palpitations (17%), arrhythmias (12%), and in rare cases, right heart failure and extreme tiredness. We report one such case of a young man with a disproportionally enlarged right atrium. The basal transthoracic echocardiogram demonstrated a huge right atrium with a thick smoke pattern and mild tricuspid regurgitation in the absence of congenital heart disease...
2018: Case Reports in Surgery
https://www.readbyqxmd.com/read/30325584/teratogenicity-of-valproic-acid-and-its-constitutional-isomer-amide-derivative-valnoctamide-in-mice
#11
Ying Linda Lin, Meir Bialer, Robert M Cabrera, Richard H Finnell, Bogdan J Wlodarczyk
OBJECTIVES: The anticonvulsant valproic acid (VPA) has a known teratogenic effect capable of inducing major congenital malformations and developmental disorders. A comparative teratogenicity study of VPA and its analog valnoctamide (VCD), which is a new generation candidate antiepileptic drug, was carried out using Swiss Vancouver (SWV) mice. METHODS: Pregnant SWV dams were treated with either a single intraperitoneal injection of VPA (1.8 and 2.7 mmol/kg), VCD (1...
October 16, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/30325041/pediatric-rhinoplasty-a-national-surgical-quality-improvement-program-analysis
#12
Rebecca J Kamil, Christopher Roxbury, Emily Boss
OBJECTIVES: Rhinoplasty is commonly performed in children with congenital anomalies and resultant nasal deformity causing airway obstruction. Little is known regarding patient factors or perioperative sequelae. We define demographic characteristics and perioperative complications for children undergoing rhinoplasty within a large national cohort. STUDY DESIGN: Retrospective cohort study of children aged ≤ 18 years undergoing rhinoplasty utilizing data from the 2012 to 2015 American College of Surgeons National Surgery Quality Improvement Program-Pediatric public use file...
October 16, 2018: Laryngoscope
https://www.readbyqxmd.com/read/30324796/high-prevalence-of-syndromic-disorders-in-patients-with-non-isolated-central-precocious-puberty
#13
Selmen Wannes, Monique Elmaleh-Bergès, Dominique Simon, Delphine Zénaty, Laetitia Martinerie, Caroline Storey, Georges Gelwane, Anne Paulsen, Emmanuel Ecosse, Nicolas De Roux, Jean Claude Carel, Juliane Léger
OBJECTIVE: Non-idiopathic CPP is caused by acquired or congenital hypothalamic lesions visible on MRI or is associated with various complex genetic and/or syndromic disorders. This study investigated the different types and prevalence of non-isolated CPP phenotypes. DESIGN AND METHODS: This observational cohort study included all patients identified as having non-idiopathic CPP in the database of a single academic pediatric care center over a period of 11.5 years...
August 14, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30324792/diagnosis-of-endocrine-disease-congenital-hypothyroidism-update-and-perspectives
#14
C Peters, A S P van Trotsenburg, N Schoenmakers
Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of the thyroid gland as a result of hypothalamic or pituitary pathology. Primary CH is the most common neonatal endocrine disorder, traditionally subdivided into thyroid dysgenesis (TD), referring to a spectrum of thyroid developmental abnormalities, and dyshormonogenesis, where a defective molecular pathway for thyroid hormonogenesis results in failure of hormone production by a structurally intact gland...
September 24, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30324627/starfish-in-the-heart-congenital-anomaly-of-the-papillary-muscles
#15
Mohammed Makkiya, Pedro A Villablanca, Jonathan R Walker, Linda B Haramati, Mario J Garcia, Ali Zaidi, Cynthia Taub
Most common congenital anatomical abnormalities of the subvalvular apparatus (papillary muscles and chordae tendineae) are parachute or parachute like mitral valve. This is more commonly reported among the pediatric population as they develop heart failure symptoms shortly after birth. Reports of adult cases are rare and incidental. Multimodality imaging has an important role in evaluating such anatomical abnormalities, and identification of possible related complications. We are describing a rare atypical variant of parachute like mitral valve...
October 16, 2018: Echocardiography
https://www.readbyqxmd.com/read/30324071/current-challenges-of-plastic-surgical-care-in-sub-saharan-africa-maputo-mozambique
#16
Kevin J Guzman, Natacha Gemo, Deborah B Martins, Pedro Santos, Daniel A DeUgarte, Fatima Ademo, David Kulber, Celma Issufo
Background: Limited data exist on plastic surgery practices in Sub-Saharan Africa. The aim of this study was to characterize the spectrum of disease and operative procedures at a teaching hospital in Maputo, Mozambique to help understand the challenges of providing care for the local providers and to provide contextual relevance for training through partnerships. Methods: A mixed-methods approach was utilized to perform an ongoing needs assessment. A retrospective review was performed of plastic surgery operative records, ward admissions records, and death records in a tertiary-care hospital in Maputo, Mozambique for the period January 2015 to December 2015...
August 2018: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/30323916/complete-unilateral-ureteral-duplication-encountered-during-intersphincteric-resection-for-low-rectal-cancer
#17
Alexandra Varlatzidou, Maria Zarokosta, Euthumios Nikou, Panagiotis Theodoropoulos, Dimosthenis Kakaviatos, Τheodoros Piperos, Vasileios Kalles, Vasileios Bonatsos, Theodoros Mariolis-Sapsakos
Complete duplication of ureters is a very rare clinical entity that may either be asymptomatic or present with a variety of clinical findings. In the presented case a 51-year-old Caucasian female underwent an intersphincteric resection for low rectal cancer. Intraoperatively, during the standard bilateral recognition and mobilization of the ureters, complete unilateral duplication of the left ureter was incidentally detected, deriving from a single renal parenchyma. Such a congenital abnormality though constitutes a major risk-factor of accidental ureteral injury during operations including pelvis...
October 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/30323815/development-of-a-quantitative-assay-for-the-characterization-of-human-collectin-11-cl-11-cl-k1
#18
Rafael Bayarri-Olmos, Nikolaj Kirketerp-Moller, Laura Pérez-Alós, Karsten Skjodt, Mikkel-Ole Skjoedt, Peter Garred
Collectin-11 (CL-11) is a pattern recognition molecule of the lectin pathway of complement with diverse functions spanning from host defense to embryonic development. CL-11 is found in the circulation in heterocomplexes with the homologous collectin-10 (CL-10). Abnormal CL-11 plasma levels are associated with the presence of disseminated intravascular coagulation, urinary schistosomiasis, and congenital disorders. Although there has been a marked development in the characterization of CL-11 there is still a scarcity of clinical tools for its analysis...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/30323271/conditional-deletion-of-platelet-derived-growth-factor-receptor-alpha-pdgfra-in-urorectal-mesenchyme-causes-mesenchyme-apoptosis-and-urorectal-developmental-anomalies-in-mice
#19
Chen Qian, Zhongluan Wu, Roy Chun-Laam Ng, Maria-Mercè Garcia-Barceló, Zheng-Wei Yuan, Kenneth Kak Yuen Wong, Paul Kwong Hang Tam, Vincent Chi Hang Lui
In mammals, urorectal development starts at early embryonic stage, defective urorectal development results in anorectal malformations, which are common congenital developmental defects of the anus and the urethra in newborns. The etiology and embryology of the defects are still largely unknown. Platelet-derived growth factor receptor alpha (Pdgfra) is a cell surface receptor tyrosine kinase, upon binding to its ligands (Pdgfa-d), mediates intracellular signaling and regulates embryonic development. The expression of Pdgfra is tightly regulated in the developing urorectal mesenchyme, and its dysregulation is associated with urorectal defects in animals with urorectal defects...
October 15, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/30322940/potential-downside-of-high-initial-visual-acuity
#20
Lukas Vogelsang, Sharon Gilad-Gutnick, Evan Ehrenberg, Albert Yonas, Sidney Diamond, Richard Held, Pawan Sinha
Children who are treated for congenital cataracts later exhibit impairments in configural face analysis. This has been explained in terms of a critical period for the acquisition of normal face processing. Here, we consider a more parsimonious account according to which deficits in configural analysis result from the abnormally high initial retinal acuity that children treated for cataracts experience, relative to typical newborns. According to this proposal, the initial period of low retinal acuity characteristic of normal visual development induces extended spatial processing in the cortex that is important for configural face judgments...
October 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
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