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https://www.readbyqxmd.com/read/28645121/effect-of-obesity-on-gestational-and-perinatal-outcomes
#1
Sônia Regina Cabral Madi, Rosa Maria Rahmi Garcia, Vandrea Carla de Souza, Renato Luís Rombaldi, Breno Fauth de Araújo, José Mauro Madi
Purpose To assess the impact of pre-pregnancy obesity (body mass index [BMI] ≥ 30 kg/m(2)) on the gestational and perinatal outcomes. Methods Retrospective cohort study of 731 pregnant women with a BMI ≥ 30 kg/m(2) at the first prenatal care visit, comparing them with 3,161 women with a BMI between 18.5 kg/m(2) and 24.9 kg/m(2). Maternal and neonatal variables were assessed. Statistical analyses reporting the demographic features of the pregnant women (obese and normal) were performed with descriptive statistics followed by two-sided independent Student's t tests for the continuous variables, and the chi-squared (χ(2)) test, or Fisher's exact test, for the categorical variables...
June 23, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28645012/associations-between-toxic-and-essential-trace-elements-in-maternal-blood-and-fetal-congenital-heart-defects
#2
Yanqiu Ou, Michael S Bloom, Zhiqiang Nie, Fengzhen Han, Jinzhuang Mai, Jimei Chen, Shao Lin, Xiaoqing Liu, Jian Zhuang
Prenatal exposure to toxic trace elements, including heavy metals, is an important public health concern. Few studies have assessed if individual and multiple trace elements simultaneously affect cardiac development. The current study evaluated the association between maternal blood lead (Pb), cadmium (Cd), chromium (Cr), copper (Cu), mercury (Hg), and selenium (Se) levels and congenital heart defects (CHDs) in offspring. This hospital-based case-control study included 112 case and 107 control infants. Maternal peripheral blood draw was made during gestational weeks 17-40 and used to determine trace element levels by inductively coupled plasma mass spectrometry...
June 20, 2017: Environment International
https://www.readbyqxmd.com/read/28644950/hematopoietic-cell-transplantation-in-fanconi-anemia-and-dyskeratosis-congenita-a-minireview
#3
REVIEW
Mouhab Ayas
Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon. At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed by pure red aplasia, and, less commonly, dyskeratosis congenita, congenital neutropenia, and others...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28644945/complications-and-cost-of-syndactyly-reconstruction-in-the-united-states-analysis-of-the-pediatric-health-information-system
#4
Maria F Canizares, Lanna Feldman, Patricia E Miller, Peter M Waters, Donald S Bae
BACKGROUND: Syndactyly is one of the most common congenital differences of the upper extremity and offers an exceptional opportunity to evaluate value-based care in pediatric orthopedic surgery. We designed a study to characterize complications and cost associated to syndactyly surgery among US pediatric hospitals. METHODS: A total of 2047 patients were identified for syndactyly surgery at 38 pediatric hospitals from 2009 to 2012 using the Pediatric Health Information System (PHIS) database...
July 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28644547/a-genetic-epidemiology-study-of-congenital-adrenal-hyperplasia-in-italy
#5
Alessandro Gialluisi, Soara Menabò, Lilia Baldazzi, Letizia Casula, Antonella Meloni, Maria Carla Farci, Stefano Mariotti, Luisa Balestrino, Rita Ortolano, Stefania Murru, Carlo Carcassi, Sandro Loche, Antonio Balsamo, Giovanni Romeo
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q) of an autosomal recessive disorder using the proportion of homozygous patients, the mutational spectrum and the inbreeding coefficient in a sample of affected individuals...
June 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28644346/twelve-novel-mutations-in-the-slc26a3-gene-in-17-sporadic-cases-of-congenital-chloride-diarrhea
#6
Felice Amato, Giuseppe Cardillo, Renato Liguori, Manuela Scorza, Marika Comegna, Ausilia Elce, Sonia Giordano, Laura Lucaccioni, Licia Lugli, Sabrina Cardile, Claudio Romano, Vincenza Pezzella, Giuseppe Castaldo, Roberto Berni Canani
OBJECTIVES: We aimed to improve the knowledge of pathogenic mutations in sporadic cases of congenital chloride diarrhea (CCD) and emphasize the importance of functional studies to define the effect of novel mutations. METHODS: All member 3 of solute carrier family 26 (SLC26A3) coding regions were sequenced in 17 sporadic patients with CCD. Moreover, the minigene system was used to analyze the effect of 2 novel splicing mutations. RESULTS: We defined the SLC26A3 genotype of all 17 patients with CCD and identified 12 novel mutations...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28644236/cyp1b1-cytopathy-uncommon-phenotype-of-a-homozygous-cyp1b1-deletion-as-internal-corneal-ulcer-of-von-hippel
#7
Valeria Oliva-Biénzobas, Alejandro Navas, Mirena C Astiazarán, Oscar Francisco Chacón-Camacho, Jose A Bermúdez-Magner, Mariana Takane, Enrique Graue-Hernández, Juan Carlos Zenteno
PURPOSE: To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma. METHODS: The newborn presented with diffuse corneal edema and bilaterally elevated intraocular pressure (IOP). Ophthalmological examination, ultrasound, and ultrasound biomicroscopy were performed; congenital infections were ruled out. Genetic analysis was performed. The patient underwent penetrating keratoplasty and goniotomy in a single surgical time...
June 21, 2017: Cornea
https://www.readbyqxmd.com/read/28644147/prevalence-of-prenatally-diagnosed-congenital-cystic-adenomatoid-malformation-among-fetuses-in-china
#8
Dazhi Fan, Qing Xia, Shuzhen Wu, Li Liu, Zhen Yu, Wen Wang, Song Wu, Xiaoling Guo, Zhengping Liu
The prevalence of congenital cystic adenomatoid malformation among fetuses still varies in different studies in China. The present meta-analysis was intended to evaluate the pooled prevalence of fetuses in China. Four English (Pubmed, Elsevier Science Direct, Web of Science and the Cochrane Library) and four Chinese (the Chinese Biological Medical Literature database, the Chinese National Knowledge Infrastructure database, VIP database and Wanfang Data) databases were searched from inception to July 2016. Meta-analyses were performed using Stata (version 12...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28643867/transfusion-transmitted-cmv-infection%C3%A2-%C3%A2-current-knowledge-and-future-perspectives
#9
REVIEW
M Ziemann, T Thiele
Transmission of human cytomegalovirus (CMV) via transfusion (TT-CMV) may still occur and remains a challenge in the treatment of immunocompromised CMV-seronegative patients, e.g. after stem cell transplantation, and for low birthweight infants. Measures to reduce the risk of TT-CMV have been evaluated in clinical studies, including leucocyte depletion of cellular blood products and/or the selection of CMV-IgG-negative donations. Studies in large blood donor cohorts indicate that donations from newly CMV-IgG-positive donors should bear the highest risk for transmitting CMV infections because they contain the highest levels of CMV-DNA, and early CMV antibodies cannot neutralise CMV...
June 23, 2017: Transfusion Medicine
https://www.readbyqxmd.com/read/28643663/delivery-outcomes-of-term-pregnancy-complicated-by-idiopathic-polyhydramnios
#10
S Zeino, L Carbillon, I Pharisien, A Tigaizin, M Benchimol, R Murtada, J Boujenah
OBJECTIVE: Polyhydramnios is associated with an increased risk of cesarean section. The aetiology of polyhydramnios and the characteristics of the labour may be confounding factors. The objective was to study the characteristics and mode of delivery in case of pregnancy complicated with idiopathic polyhydramnios. METHODS: This retrospective matched and controlled study included all pregnant women with idiopathic polyhydramnios (amniotic index>25cm or single deepest pocket>8cm) diagnosed at the 2nd or 3rd trimester and persistent at term delivery (>37weeks of pregnancy) in our institution...
April 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28643569/iron-overload-directly-affecting-the-ovaries-in-a-patient-with-diamond-blackfan-anaemia-a-case-report
#11
Mariano Mascarenhas, Victoria Rawnsley, Adam Balen
Iron is a 'one-way' element and the primary point of regulation of body iron stores is at the level of intestinal iron absorption. Repeated blood transfusions for congenital anaemias bypass this regulatory checkpoint and inevitably lead to iron overload in the long-term. Iron overload causes multi-organ dysfunction of the heart, liver, pancreas and joints. It also causes reproductive toxicity primarily through its damaging effect on the anterior pituitary leading to hypogonadotrophic hypogonadism. Another less understood mechanism of reproductive toxicity is direct gonadal damage of excess free iron...
June 23, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28643420/impact-on-survival-of-warfarin-in-patients-with-pulmonary-arterial-hypertension-receiving-subcutaneous-treprostinil
#12
Mona Ascha, Xuan Zhou, Youlan Rao, Omar A Minai, Adriano R Tonelli
INTRODUCTION: Anticoagulation is a common treatment modality in patients with pulmonary arterial hypertension (PAH). Further studies are needed to appropriately assess the risk / benefit ratio of anticoagulation, particularly in PAH patients receiving PAH-specific therapies. AIMS: We use observational long-term data on PAH patients treated with subcutaneous (SQ) treprostinil from a large open-label study. Patients were followed for up to four years. The use of warfarin and bleeding events were recorded...
June 23, 2017: Cardiovascular Therapeutics
https://www.readbyqxmd.com/read/28643417/congenital-deafness-affects-deep-layers-in-primary-and-secondary-auditory-cortex
#13
Christoph Berger, Daniela Kühne, Verena Scheper, A Kral
Congenital deafness leads to functional deficits in the auditory cortex for which early cochlear implantation can effectively compensate. Most of these deficits have been demonstrated functionally. Furthermore, the majority of previous studies on deafness have involved the primary auditory cortex; knowledge of higher-order areas is limited to effects of cross-modal reorganization. In this study, we compared the cortical cytoarchitecture of four cortical areas in adult hearing and congenitally deaf cats (CDCs): the primary auditory field A1, two secondary auditory fields, namely the dorsal zone (DZ) and second auditory field (A2); and a reference visual association field (area 7) in the same section stained either using Nissl or SMI-32 antibodies...
June 23, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28643402/clinical-findings-in-right-ventricular-noncompaction-in-hypoplastic-left-heart-syndrome
#14
Monique M Gardner, Meryl S Cohen
BACKGROUND: Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. We describe the diagnosis and clinical course in three patients at our institution. METHODS: We performed a retrospective review of patients diagnosed with RVNC over a 12-month period at our institution and reviewed their imaging and clinical course...
June 23, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28643274/an-unexplained-congenital-disorder-of-glycosylation-ii-in-a-child-with-neurohepatic-involvement-hypercholesterolemia-and-hypoceruloplasminemia
#15
Pier Luigi Calvo, Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò, Stefania Reggiani, Angelo B Cefalù, Luisella Sturiale, Domenico Garozzo, Dirk J Lefeber, Jaak Jaeken
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect...
June 23, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28643124/-solid-pediatric-tumors-a-brief-survey-of-the-rarity-cabinet
#16
B Gürtl-Lackner, D Gisselsson-Nord, G Vujanic
Solid tumors in childhood are extremely rare entities, which are usually treated in specialized centers. Diagnosis and therapy are carried out according to a joint European protocol, whereby the pathological evaluation and therapy are carried out according to international guidelines. For the correct diagnosis and/or therapy of most tumors, analysis of specific genetic changes is mandatory; therefore, tumors have to be adequately sampled for parallel genetic analysis during the pathological work-up. A second opinion reference of the histopathological assessment is part of the international guidelines...
June 22, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28643081/distraction-osteogenesis-reconstruction-of-large-segmental-bone-defects-after-primary-tumor-resection-pitfalls-and-benefits
#17
REVIEW
Jan Lesensky, Daniel E Prince
Successful cure is achieved in almost 70% of patients with primary bone sarcomas with currently available therapies. Some soft tissue sarcomas require wide bone resection in order to achieve appropriate margins for cure of disease, and patients undergoing these procedures need durable reconstruction. Biological reconstruction has been shown to provide patients with superior long-term results over other alternatives. Distraction osteogenesis is well studied in the correction of deformities as well as in addressing some congenital musculoskeletal pathologies...
June 22, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28643040/management-of-an-unusual-recurrent-neurenteric-cyst-in-an-infant-case-report-and-review-of-the-literature
#18
Darian R Esfahani, Laura Burokas, Henry G Brown, Yoon S Hahn, Dimitrios Nikas
PURPOSE: Neurenteric cysts are rare congenital remnants formed by a failure of separation between endoderm and ectoderm in utero. METHODS: We describe a case of a 7-month-old male with a large cervical neurenteric cyst presenting with intermittent neck stiffness and irritability. RESULTS: This cyst was resected, recurred, and required repeat surgery. The patient's postoperative course included aseptic meningitis and hydrocephalus requiring ventriculoperitoneal shunt and later management of tethered cord, necessitating detethering...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28643033/the-role-of-sensory-perception-emotionality-and-lifeworld-in-auditory-word-processing-evidence-from-congenital-blindness-and-synesthesia
#19
Judith Papadopoulos, Frank Domahs, Christina Kauschke
Although it has been established that human beings process concrete and abstract words differently, it is still a matter of debate what factors contribute to this difference. Since concrete concepts are closely tied to sensory perception, perceptual experience seems to play an important role in their processing. The present study investigated the processing of nouns during an auditory lexical decision task. Participants came from three populations differing in their visual-perceptual experience: congenitally blind persons, word-color synesthetes, and sighted non-synesthetes...
June 22, 2017: Journal of Psycholinguistic Research
https://www.readbyqxmd.com/read/28642988/development-of-pulmonary-hypertension-during-treatment-with-diazoxide-a-case-series-and-literature-review
#20
Matthew R Timlin, Alexander B Black, Heather M Delaney, Renée I Matos, Candace S Percival
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The mainstay of medical management for CHI is diazoxide. Diazoxide inhibits insulin release from the pancreas, but also causes smooth muscle relaxation and fluid retention so it is typically given with chlorothiazide. In July 2015, the FDA issued a drug safety communication warning that pulmonary hypertension (PH) had been reported in 11 infants being treated with diazoxide and that the PH resolved with withdrawal of diazoxide...
June 22, 2017: Pediatric Cardiology
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