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Congenital malformations

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https://www.readbyqxmd.com/read/28339500/detecting-congenital-malformations-lessons-learned-from-the-mpepu-study-botswana
#1
Gbolahan Ajibola, Rebecca Zash, Roger L Shapiro, Oganne Batlang, Kerapetse Botebele, Kara Bennett, Florence Chilisa, Erik von Widenfelt, Joseph Makhema, Shahin Lockman, Lewis B Holmes, Kathleen M Powis
INTRODUCTION: A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART). While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted. METHODS: We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study). Infants were examined at birth, and at least every 3 months through 18 months of age...
2017: PloS One
https://www.readbyqxmd.com/read/28338118/unusual-discovery-after-an-examination-for-abdominal-pain-abernethy-1b-malformation-and-liver-adenomatosis-a-case-report
#2
Romeo Ioan Chira, Adriana Calauz, Simona Manole, Simona Valean, Petru Adrian Mircea
Congenital extrahepatic portosystemic shunt (Abernethy malformation) is a rare condition characterized by developmental abnormalities of the portal venous system resulting in the diversion of the portal blood from the liver to the systemic venous system through a complete or partial shunt of the portomesenteric blood. We report the case of an 18 year-old female examined for abdominal pain, presenting cholestasis syndrome and an elevated serum aspartate aminotransferase level. Liver ultrasound examination revealed the absence of the portal vein with a complete extrahepatic shunt of the portal blood, multiple focal liver lesions, and multiple associated vascular anomalies...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28336600/complete-genome-sequences-before-and-after-mammalian-cell-culture-of-zika-virus-isolated-from-the-serum-of-a-symptomatic-male-patient-from-oaxaca-mexico
#3
Celia Boukadida, Jesús M Torres-Flores, Martha Yocupicio-Monroy, Elvira Piten-Isidro, Amaranta Y Rivero-Arrieta, Yara A Luna-Villalobos, Liliane Martínez-Vargas, Sofía L Alcaraz-Estrada, Klintsy J Torres, Rosalia Lira, Gustavo Reyes-Terán, Edgar E Sevilla-Reyes
Zika virus (ZIKV) is an emerging arthropod-borne flavivirus associated with severe congenital malformations and neurological complications. Although the ZIKV genome is well characterized, there is limited information regarding changes after cell isolation and culture adaptation. We isolated, and passaged in Vero cells, ZIKV from the serum of a symptomatic male patient and compared the viral genomes before and after culture. Single nucleotide polymorphisms were characteristic among serum-circulating genomes, while such diversity decreased after cell culture...
March 23, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#4
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332242/bilateral-oblique-facial-clefts-rudimentary-eyes-and-hydrocephalus-in-an-aborted-equine-foetus
#5
J S Agerholm, H G Pedersen, F J McEvoy, S Heegaard
Knowledge of congenital malformations and their causes in horses is generally sparse. Such conditions require more scientific attention to improve their diagnostics and inform prevention strategies. Here, a unique syndrome of bilateral oblique facial clefts (meloschisis), rudimentary eyes and hydrocephalus is reported in an equine foetus spontaneously aborted at gestation day 224. The cause of abortion was considered to be intrauterine death caused by umbilical cord torsions and subsequent compromised blood flow, but the aetiology of the malformation could not be determined...
March 22, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28332092/the-spectrum-of-neuropathological-changes-associated-with-congenital-zika-virus-infection
#6
Leila Chimelli, Adriana S O Melo, Elyzabeth Avvad-Portari, Clayton A Wiley, Aline H S Camacho, Vania S Lopes, Heloisa N Machado, Cecilia V Andrade, Dione C A Dock, Maria Elisabeth Moreira, Fernanda Tovar-Moll, Patricia S Oliveira-Szejnfeld, Angela C G Carvalho, Odile N Ugarte, Alba G M Batista, Melania M R Amorim, Fabiana O Melo, Thales A Ferreira, Jacqueline R L Marinho, Girlene S Azevedo, Jeime I B F Leal, Rodrigo F Madeiro da Costa, Stevens Rehen, Monica B Arruda, Rodrigo M Brindeiro, Rodrigo Delvechio, Renato S Aguiar, Amilcar Tanuri
A major concern associated with ZIKV infection is the increased incidence of microcephaly with frequent calcifications in infants born from infected mothers. To date, postmortem analysis of the central nervous system (CNS) in congenital infection is limited to individual reports or small series. We report a comprehensive neuropathological study in ten newborn babies infected with ZIKV during pregnancy, including the spinal cords and dorsal root ganglia (DRG), and also muscle, pituitaries, eye, systemic organs, and placentas...
March 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28328141/a-590-kb-deletion-caused-by-non-allelic-homologous-recombination-between-two-line-1-elements-in-a-patient-with-mesomelia-synostosis-syndrome
#7
Tomohiro Kohmoto, Takuya Naruto, Miki Watanabe, Yuji Fujita, Sae Ujiro, Nana Okamoto, Hideaki Horikawa, Kiyoshi Masuda, Issei Imoto
Mesomelia-synostoses syndrome (MSS) is a rare, autosomal-dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non-recurrent deletion at 8q13 that always encompasses two coding-genes, SULF1 and SLCO5A1. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non-allelic homologous recombination (NAHR) in at least two analyzed cases...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328134/somatic-pik3ca-mutations-in-seven-patients-with-pik3ca-related-overgrowth-spectrum
#8
Kit San Yeung, Janice Jing Kun Ip, Chin Pang Chow, Evelyn Yue Ling Kuong, Paul Kwong-Hang Tam, Godfrey Chi-Fung Chan, Brian Hon-Yin Chung
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#9
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327376/maternal-m%C3%A3-llerian-anomalies-and-future-health-of-the-offspring
#10
Adva Cahen-Peretz, Asnat Walfisch, Michael Friger, Eyal Sheiner
OBJECTIVE: To evaluate whether offspring of women with müllerian anomalies are at an increased risk for long-term pediatric morbidity. STUDY DESIGN: A population-based cohort study compared the incidence of long-term (up to the age of 18 years for offspring) hospitalizations due to cardiovascular, endocrine, neurological, hematological, respiratory and urinary morbidity of offspring to mothers diagnosed with uterine anomalies. Deliveries occurred between the years 1991 and 2013 in a tertiary medical center...
March 3, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28327142/exome-sequencing-identified-rare-variants-in-genes-hspg2-and-atp2b4-in-a-family-segregating-developmental-dysplasia-of-the-hip
#11
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28326845/the-use-of-biologics-in-pregnant-patients-with-rheumatic-disease
#12
Monika Østensen
An increasing number of female patients with autoimmune diseases are treated with biologic drugs. Concerns in regard to safety of biologics during pregnancy arise in patients who have not completed their families. Areas covered: A review of the literature dealing with child outcomes of pregnancies exposed to biologics shows that TNF inhibitors (TNFi) are the best studied in regard to human pregnancy. In studies comparing exposed pregnancies to disease-matched controls no increased risk of spontaneous abortion, low birth weight, prematurity or congenital malformations has been observed...
March 22, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28325678/early-neonatal-deaths-associated-with-perinatal-asphyxia-in-infants-%C3%A2-2500g-in-brazil
#13
Maria Fernanda Branco de Almeida, Mandira Daripa Kawakami, Lícia Maria Oliveira Moreira, Rosa Maria Vaz Dos Santos, Lêni Márcia Anchieta, Ruth Guinsburg
OBJECTIVE: To assess the annual burden of early neonatal deaths associated with perinatal asphyxia in infants weighing ≥2500g in Brazil from 2005 to 2010. METHODS: The population study enrolled all live births of infants with birth weight ≥2500g and without malformations who died up to six days after birth with perinatal asphyxia, defined as intrauterine hypoxia, asphyxia at birth, or meconium aspiration syndrome. The cause of death was written in any field of the death certificate, according to International Classification of Diseases, 10th Revision (P20...
March 19, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28324617/rare-localized-extralobar-sequestration-with-congenital-cystic-adenomatoid-malformation-a-case-report
#14
Satoshi Nagasaka, Satsuki Kina, Yoshihito Arimoto, Fumi Yokote, Tsuyoshi Uchida, Hirochika Matsubara
Extralobar sequestrations constitute a rare form of congenital pulmonary airway malformations that are difficult to diagnose. Here, we report a rare case of a localized extralobar sequestration in the right superior portion of the mediastinum accompanied by congenital cystic adenomatoid malformation.A 19-year-old man presented with a right upper mediastinal mass that was detected using chest radiography, had a history of left spontaneous pneumothorax, and had undergone a bullectomy 4 years previously.The initial diagnosis included a mature teratoma and a bronchogenic cyst in the mediastinum; however, the presence of a cystic mass in the right upper lobe of the lung prompted further examination...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28324193/hemodynamic-characterization-of-peripheral-arterio-venous-malformations
#15
Sabrina Frey, A Haine, R Kammer, H von Tengg-Kobligk, D Obrist, I Baumgartner
Peripheral arterio-venous malformations (pAVMs) are congenital vascular anomalies that require treatment, due to their severe clinical consequences. The complexity of lesions often leads to misdiagnosis and ill-planned treatments. To improve disease management, we developed a computational model to quantify the hemodynamic effects of key angioarchitectural features of pAVMs. Hemodynamic results were used to predict the transport of contrast agent (CA), which allowed us to compare our findings to digital subtraction angiography (DSA) recordings of patients...
March 21, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28324176/bhlha9-regulates-apical-ectodermal-ridge-formation-during-limb-development
#16
Kensuke Kataoka, Takahide Matsushima, Yoshiaki Ito, Tempei Sato, Shigetoshi Yokoyama, Hiroshi Asahara
Split hand/foot malformation (SHFM) and SHFM combined with long-bone deficiency (SHFLD) are congenital dysgeneses of the limb. Although six different loci/mutations (SHFM1-SHFM6) have been found from studies on families with SHFM, the causes and associated pathogenic mechanisms for a large number of patients remain unidentified. On the basis of the identification of a duplicated gene region involving BHLHA9 in some affected families, BHLHA9 was identified as a novel SHFM/SHFLD-related gene. Although Bhlha9 is predicted to participate in limb development as a transcription factor, its precise function is unclear...
March 21, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28323629/effects-of-levothyroxine-on-pregnancy-outcomes-in-women-with-thyroid-dysfunction-a-meta-analysis-of-randomized-controlled-trials
#17
Jia Li, Jie Shen, Lan Qin
Context • Subclinical hypothyroidism (SCH) in pregnancy can be associated with increased complications in pregnant women and neurocognitive deficits in fetuses. Two recently published meta-analyses investigated the effects of levothyroxine (LT4) supplementation on pregnancy outcomes but did not report adverse complications and neonatal outcomes. Objectives • The study intended to assess the effects of LT4 supplementation in the treatment of pregnant women with thyroid dysfunction. Design • The research team performed a meta-analysis of randomized controlled trials (RCTs) published in PubMed, Embase, Web of Science, Chinese BioMedical Literature Service System, and China National Knowledge Infrastructure databases...
March 2017: Alternative Therapies in Health and Medicine
https://www.readbyqxmd.com/read/28320222/demographic-and-perinatal-outcome-data-of-fetuses-with-sua-pruv
#18
Lulu Sun, Yanlin Wang
AIM: Identify structural anomalies and adverse pregnancy outcomes accompanying single umbilical artery (SUA) and persistent right umbilical vein (PRUV) and to investigate whether SUA and PRUV are associated with chromosomal abnormalities and if these defects warrant invasive antenatal diagnosis. METHODS: We retrospectively analyzed pregnancies with an antenatal diagnosis of SUA/PRUV from the International Peace Maternity and Child Health Hospital (IPMCHH) database...
March 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28319995/clinical-trials-of-therapeutics-for-the-prevention-of-congenital-zika-virus-disease-challenges-and-potential-solutions
#19
Alex P Salam, Amanda Rojek, Jake Dunning, Peter W Horby
Zika virus (ZIKV) infection in pregnancy is associated with adverse fetal outcomes, such as microcephaly and other congenital malformations. No therapeutic options are available to pregnant women with ZIKV infection to prevent these effects. Drug trials in pregnancy raise several scientific, ethical, and logistical challenges, which are compounded further in ZIKV because of limited knowledge of the disease pathophysiology and a product development pipeline in its infancy. We evaluate the major challenges in choosing therapeutics to prevent congenital ZIKV disease and conducting clinical trials of these treatments, with a focus on preventing congenital central nervous system malformations...
March 21, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#20
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria...
March 20, 2017: American Journal of Medical Genetics. Part A
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