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Congenital abnormality

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https://read.qxmd.com/read/30876823/klf1-mutation-e325k-induces-cell-cycle-arrest-in-erythroid-cells-differentiated-from-congenital-dyserythropoietic-anemia-cda-patient-specific-induced-pluripotent-stem-cells
#1
Hiroshi Kohara, Taiju Utsugisawa, Chika Sakamoto, Lisa Hirose, Yoshie Ogawa, Hiromi Ogura, Ai Sugawara, Takako Aoki, Takuya Iwasaki, Takayoshi Asai, Sayoko Doisaki, Yusuke Okuno, Hideki Muramatsu, Takaaki Abe, Ryo Kurita, Shohei Miyamoto, Tetsushi Sakuma, Masayuki Shiba, Takashi Yamamoto, Shouichi Ohga, Kenichi Yoshida, Seishi Ogawa, Etsuro Ito, Seiji Kojima, Hitoshi Kanno, Kenzaburo Tani
Krüppel-like factor 1 (KLF1), a transcription factor controlling definitive erythropoiesis, is involved in sequential control of terminal cell division and enucleation via fine regulation of key cell-cycle regulator genes expression in erythroid lineage cells. Type IV congenital dyserythropoietic anemia (CDA) is caused by a monoallelic mutation at the second zinc finger of KLF1 (c.973G>A; p.E325K). We recently diagnosed a female patient with type IV CDA with the identical missense mutation. To understand the mechanism underlying the dyserythropoiesis caused by the mutation, we generated induced pluripotent stem cells (iPSCs) from the CDA patient (CDA-iPSCs)...
March 12, 2019: Experimental Hematology
https://read.qxmd.com/read/30876810/does-echocardiography-have-a-role-in-the-cardiologist-s-diagnosis-of-innocent-murmurs-in-childhood
#2
Hiu L Ip, Samuel Menahem
BACKGROUND: Innocent murmurs are common in childhood. Echocardiography may diagnose almost all congenital cardiac abnormalities. Earlier studies have suggested that it may be unnecessary when a clinical diagnosis of an innocent murmur is made by an experienced cardiologist. Yet, echocardiography is commonly performed despite such a diagnosis. Is that justifiable? METHODS: Patients referred to a paediatric cardiologist for evaluation of a murmur were assessed. If an innocent murmur was clinically diagnosed, an echocardiogram and an electrocardiogram were ordered when requested...
February 16, 2019: Heart, Lung & Circulation
https://read.qxmd.com/read/30874585/a-transient-window-of-hypothyroidism-alters-neural-progenitor-cells-and-results-in-abnormal-brain-development
#3
Katherine L O'Shaughnessy, Susan E Thomas, Stephanie R Spring, Jermaine L Ford, Richard L Ford, Mary E Gilbert
Cortical heterotopias are clusters of ectopic neurons in the brain and are associated with neurodevelopmental disorders like epilepsy and learning disabilities. We have previously characterized the robust penetrance of a heterotopia in a rat model, induced by thyroid hormone (TH) disruption during gestation. However, the specific mechanism by which maternal TH insufficiency results in this birth defect remains unknown. Here we first determined the developmental window susceptible to endocrine disruption and describe a cellular mechanism responsible for heterotopia formation...
March 15, 2019: Scientific Reports
https://read.qxmd.com/read/30874528/-clinical-and-molecular-genetic-characteristics-of-x-linked-spinal-bulbar-amyotrophy-kennedy-s-disease-in-the-sakha-republic-yakutia
#4
N R Maksimova, I A Nikolaeva, S K Stepanova, M N Korotov
AIM: To perform a clinical-genealogical and molecular genetic analysis of X-linked spinal-bulbar amyotrophy (Kennedy's disease) in the Sakha Republic (Yakutia). MATERIAL AND METHODS: Six patients, aged from 30 to 60 years, from 4 unrelated Yakut families registered in the Republican genetics registry of hereditary and congenital abnormalities of the Sakha Republic were studied. The average age of onset was 45.1±4.4 years. A clinical-genealogical and molecular genetic methods were used...
2019: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/30874516/right-heart-catheterization-using-antecubital-venous-access-in-patients-with-complex-congenital-heart-defects-and-glenn-anastomosis
#5
Sezen Atik Ugan, Selman Gökalp, Betül Çınar, İrfan Levent Saltık
OBJECTIVE: Right-heart catheterization using the antecubital veins has recently regained attention, and studies demonstrating the feasibility and safety of antecubital access in adults have been published. However, no changes have been observed in the preferred entrance sites in right-heart catheterizations in children with congenital heart diseases. This article is a description of the technique and features of the antecubital venous approach in pediatric patients with complex congenital heart defects and a Glenn anastomosis...
March 2019: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://read.qxmd.com/read/30874481/acquired-arteriovenous-fistula-of-a-finger
#6
Roderich Rietig, Sarah Hudak, Anja Hieronimus, Angela Lehn-Stefan, Bernd Balletshofer, Hans-Ulrich Häring, Roland Syha, Elko Randrianarisoa
Arteriovenous fistulae are defined as congenital or acquired abnormal direct communications between an artery and a vein leading to abnormal blood circulation. This report describes an unusual manifestation of an acquired peripheral arteriovenous fistula with a high shunt volume of 410 ml/min following a fracture of the 5th finger.
March 15, 2019: VASA. Zeitschrift Für Gefässkrankheiten
https://read.qxmd.com/read/30873637/giant-right-atrium-and-subvalvular-pulmonary-stenosis-a-case-report-of-an-interesting-combination
#7
Viviana Maestrini, Lucia I Birtolo, Sara Cimino, Paolo Severino, Massimo Mancone, Marco Francone, Sanjay M Banypersad, Flavia Ventriglia, Luigi Tritapepe, Fabio Miraldi, Francesco Fedele
A 20-year-old Congolese woman presented with presyncope, dyspnea, and anasarca. Past medical history was unremarkable. Echocardiography revealed a rare combination of giant right atrium (RA), a dilated and hypertrophied right ventricle, subvalvular pulmonary stenosis (subPS), severe tricuspid regurgitation (TR), pericardial effusion and what appeared to be a spontaneously closed ventricular septal defect (VSD). Cardiac Magnetic Resonance and Cardiac Computed Tomography confirmed the findings excluding the presence of intra-cardiac and extra-cardiac shunt and other associated congenital anomalies...
March 14, 2019: Echocardiography
https://read.qxmd.com/read/30873420/congenital-cardiac-outflow-tract-abnormalities-in-dogs-prevalence-and-pattern-of-inheritance-from-2008-to-2017
#8
Eric S Ontiveros, Samantha L Fousse, Amanda E Crofton, Timothy E Hodge, Catherine T Gunther-Harrington, Lance C Visser, Joshua A Stern
Subvalvular aortic stenosis (SAS) and valvular pulmonic stenosis (PS) are two of the most common congenital heart diseases of dogs. The aim of this study was to determine the prevalence and mode of inheritance of these congenital heart diseases in a large veterinary teaching hospital population. Case records of dogs presented to the University of California Davis, Veterinary Medical Teaching Hospital (UCD VMTH) between January 2008 to December 2017 were reviewed retrospectively and pedigree information was obtained when available...
2019: Frontiers in Veterinary Science
https://read.qxmd.com/read/30870334/hypernatremia-in-a-sleepy-2-month-old-with-mention-of-abnormal-eye-movements
#9
Steven Barron Frazier, Nina M Fitzgerald
Septo-optic dysplasia is a rare congenital heterogeneous malformation comprising at least 2 components of the triad: optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. We report a 2-month-old girl who presented with hypernatremia, constipation, and increased sleepiness with mother's recent appreciation of abnormal eye movements. We discuss the diagnosis and management of this patient who avoided significant morbidity by prompt diagnosis based initially on clinical suspicion...
March 11, 2019: Pediatric Emergency Care
https://read.qxmd.com/read/30868785/causes-of-primary-amenorrhea-at-tertiary-level-hospital
#10
Sadaqat Jabeen, Mahnaz Raees, Maleeha Nisar
BACKGROUND: The objective of this study was to collect data of patients coming to us with primary amenorrhea. Finding the different causes of this problem and managing them accordingly with the help multidisciplinary team.. METHODS: In this descriptive case series, patients with primary amenorrhea coming to the Gynae A Unit, Lady Reading Hospital, Peshawar from December 2012 till September 2016 were included. Data was collected on predesigned proforma. Investigations were advised according to the protocol made by our unit...
January 2019: Journal of Ayub Medical College, Abbottabad: JAMC
https://read.qxmd.com/read/30868735/chrng-related-nonlethal-multiple-pterygium-syndrome-muscle-imaging-pattern-and-clinical-histopathological-and-molecular-genetic-findings
#11
Laura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, Marta G G de la Banda, Adrien Felter, Emili Inarejos, Anna Codina, Cristina Jou, Monica Roldan, Francesc Palau, Janet Hoenicka, Jordi Pijuan, Carlos Ortez, Jessica Expósito-Escudero, Chantal Durand, Frédérique Nugues, Cecilia Jimenez-Mallebrera, Jaume Colomer, Robert Y Carlier, Hanns Lochmüller, Susana Quijano-Roy, Andres Nascimento
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. The objective is defining not only the clinical, histopathological, and molecular genetic characteristics, but also the type and degree of muscle involvement on whole-body magnetic resonance imaging (WBMRI). CHRNG mutations lead to a distinctive phenotype characterized by multiple congenital contractures, pterygium, and facial dysmorphism, with a stable clinical course over the years...
March 14, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30868657/malignant-transformation-of-neurocutaneous-melanosis-ncm-following-immunosuppression
#12
Lauren R Schaff, Ashfaq Marghoob, Marc K Rosenblum, Rina Meyer, Yasmin Khakoo
Neurocutaneous melanosis (NCM) is the condition of abnormal melanocyte deposition in the leptomeninges and brain parenchyma. Associated with congenital melanocytic nevi, NCM can result in neurologic deficits, hydrocephalus, and rarely, malignant transformation of cells. We present the case of a 16-year-old boy with NCM who developed malignant leptomeningeal melanoma following immunosuppression with a TNFα inhibitor. To our knowledge, this is the first reported case of a patient with known NCM undergoing malignant transformation after anti-TNF therapy for inflammatory bowel disease...
March 13, 2019: Pediatric Dermatology
https://read.qxmd.com/read/30867099/human-chorionic-gonadotrophin-hormone-for-treatment-of-congenital-undescended-testis-anatomical-barriers-to-its-success
#13
Mohammed S Elsherbeny, Sameh Abdelhay
BACKGROUND/PURPOSE: Although the surgical treatment was proved to be the recommended line of management for congenital undescended testis, hormonal therapy with human chorionic gonadotrophin hormone has been started long years ago and is still used in some areas with variable degrees of success. The factors responsible for treatment failure are not well explored. In this study, we aimed to highlight the anatomical abnormalities in the congenital undescended testis that might contribute to treatment failure...
February 23, 2019: Journal of Pediatric Surgery
https://read.qxmd.com/read/30866614/congenital-osseous-anomalies-of-the-cervical-spine-occurrence-morphological-characteristics-embryological-basis-and-clinical-significance-a-computed-tomography-based-study
#14
N V Ankith, M Avinash, K S Srivijayanand, Ajoy Prasad Shetty, Rishi Mugesh Kanna, Shanmuganathan Rajasekaran
Study Design: Observational retrospective computed tomography (CT) based study. Purpose: To analyze the congenital anomalies of the cervical spine, their morphological variations and their clinical significance. Overview of Literature: Studies published to date have focused mainly on upper cervical anomalies; no study has comprehensively reported on anomalies of both the occipitocervical and subaxial cervical spine. Methods: Nine hundred and thirty cervical spine CT scans performed in Ganga Hospital, Coimbatore, India between January 2014 and November 2017 were screened by two independent observers to document anomalies of both the upper and lower cervical spine...
March 14, 2019: Asian Spine Journal
https://read.qxmd.com/read/30866073/zika-virus-during-pregnancy-from-maternal-exposure-to-congenital-zika-virus-syndrome
#15
REVIEW
Léo Pomar, Didier Musso, Gustavo Malinger, Manon Vouga, Alice Panchaud, David Baud
The risk of Zika virus (ZIKV) infection during pregnancy depends on the incidence of the disease, which is highly variable in different affected geographic areas (<1% to 75%). Among infected pregnant women, the risk of any adverse fetal/neonatal outcome was estimated at 5-42%, with 1-4% of fetal loss and 4-9% of suspected CZS. The estimated rate of maternal-fetal transmission ranges between 7% and 26%, depending on the methodology of the study. Findings associated with CZS are microcephaly (33-64%), ventriculomegaly (63-92%), calcifications (71-92%), malformations of cortical development (79-82%), anomalies of the corpus callosum (71-100%) and of the posterior fossa (21-82%), arthrogryposis (10-25%), eye abnormalities (25%), and extra-neurologic signs such as intra uterine growth restriction (14%), placentomegaly, transient hepatitis, mild anemia...
March 13, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/30866008/embryo-culture-conditions-and-the-epigenome
#16
Sneha Mani, Monica Mainigi
Assisted reproductive technologies (ARTs) lead to an increased risk for pregnancy complications, congenital abnormalities, and specific imprinting disorders. Epigenetic dysfunction is thought to be one common mechanism which may be affecting these outcomes. The timing of multiple ART interventions overlaps with developmental time periods that are particularly vulnerable to epigenetic change. In vitro embryo culture is known to impact blastocyst development, in vitro fertilization (IVF) success rates, as well as neonatal outcomes...
May 2018: Seminars in Reproductive Medicine
https://read.qxmd.com/read/30865065/characterizing-congenital-double-punctum-anomalies-clinical-endoscopic-and-imaging-findings
#17
Hannah M Timlin, Pearse A Keane, Daniel G Ezra
PURPOSE: To characterize the anatomical anomaly of congenital double puncta, identify factors contributing to epiphora and its treatment. METHODS: Retrospective review of patients presenting with epiphora and a double lacrimal punctum over a 6-month period. RESULTS: Five consecutive patients (3 female) were identified. The median age was 50 years (range 34-76). Investigations included punctum optical coherence tomography, dacryocystography, and canalicular endoscopy...
March 8, 2019: Ophthalmic Plastic and Reconstructive Surgery
https://read.qxmd.com/read/30864922/re-congenital-abnormalities-of-the-male-reproductive-system-and-risk-of-autism-spectrum-disorders
#18
Douglas A Canning
No abstract text is available yet for this article.
March 13, 2019: Journal of Urology
https://read.qxmd.com/read/30862870/functional-stability-analyses-of-maxillofacial-skeleton-bearing-cleft-deformities
#19
Xiangyou Luo, Hanyao Huang, Xing Yin, Bing Shi, Jingtao Li
The symmetrically stable craniofacial bony structure supports the complex functions and delicate contour of the face. Congenital craniofacial deformities are often accompanied by bony defects and have been repetitively correlated with compromised dento-maxillary stability, but neither the extent nor the pattern of cleft-related maxillary instability has been explored in detail. Furthermore, it is largely unknown if the bony defect and related instability are correlated with secondary maxillary deformity common among patients with orofacial clefts...
March 12, 2019: Scientific Reports
https://read.qxmd.com/read/30858804/the-frog-xenopus-as-a-model-to-study-joubert-syndrome-the-case-of-a-human-patient-with-compound-heterozygous-variants-in-pibf1
#20
Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M Evers
Joubert syndrome (JS) is a congenital autosomal-recessive or-in rare cases-X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain in axial brain scans. Affected individuals show delayed development, intellectual disability, ataxia, hyperpnea, sleep apnea, abnormal eye, and tongue movements as well as hypotonia. At the cellular level, JS is associated with the compromised biogenesis of sensory cilia, which identifies JS as a member of the large group of ciliopathies...
2019: Frontiers in Physiology
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