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Congenital malformation

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28319210/oculo-dento-digital-dysplasia-oddd-due-to-a-gja1-mutation-report-of-a-case-with-emphasis-on-dental-manifestations
#15
Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George A Tanteles, Maria A Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel triggered further evaluation. Characteristic facies with hypoplastic alae nasi and syndactyly offered greater insight into the phenotype of the syndrome. Clinical suspicion was confirmed by genetic sequencing revealing heterozygous mutation in GJA1...
March 20, 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28318966/structural-biology-of-the-zika-virus
#16
REVIEW
Yi Shi, George F Gao
Zika virus (ZIKV), a Flaviviridae family member transmitted to humans by mosquitoes, has emerged as a major health concern. ZIKV infections can cause serious neurological complications in adults, and infection in pregnant women can cause congenital malformations, including fetal and newborn microcephaly. In response to this emerging concern, the structural virology field was quick to explore the features of ZIKV. These efforts have provided significant insights into ZIKV pathogenesis, and have identified targets for drug design...
March 15, 2017: Trends in Biochemical Sciences
https://www.readbyqxmd.com/read/28318153/-dental-alveolar-bone-and-dental-arch-remodeling-in-children-orthodontic-diagnosis-and-treatments-based-on-individual-child-arch-development
#17
Li Xiaobing
The etiology of malocclusions basically involves both congenital and environmental factors. Malocclusion is the result of the abnormal development of the orofacial complex (including tooth, dental alveolar bone, upper and lower jaws). Early orthodontic interceptive treatments involve the elimination of all congenital and environmental factors that contribute to the malformation of the orofacial complex, as well as interrupt the deviated development of the orofacial complex and the occlusion. Early orthodontic interceptive treatments mainly aim to use children's growth potential to correct abnormal developments of occlusions and orthodontically treat malocclusions more efficiently...
December 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28317447/intraspinal-bronchogenic-cyst-series-of-case-reports-and-literature-review
#18
Xueying Ma, Wenfei Li, Chen Niu, Fengli Liang, Liping Guo, Tahir Mehmood Shakir, Ming Zhang
PURPOSE: Spinal bronchogenic cysts (SBCs) are rare congenital lesions. The clinical and imaging characteristics and treatment of SBCs are not well known. We studied three cases of SBCs retrospectively, which were registered in our department and analyzed eight case reports which were all published in English, focusing on providing a deeper knowledge of SBCs. METHODS: Three patients with SBCs registered in our department were retrospectively reviewed. Eight reported SBCs cases published from 1992 to 2015 were enrolled in our study...
March 20, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28317046/a-rare-case-of-choledochal-cyst-with-pancreas-divisum-case-presentation-and-literature-review
#19
Adrián Ransom-Rodríguez, Ruben Blachman-Braun, Emilio Sánchez-García Ramos, Jesús Varela-Prieto, Erick Rosas-Lezama, Miguel Ángel Mercado
Choledochal cysts are rare congenital malformations of the bile duct characterized by dilatations of the intrahepatic and/or extrahepatic portion of the biliary tree, they are associated to an anomalous arrangement of the pancreaticobiliary duct. Pancreas divisum results from a fusion failure of the pancreatic buds. The coexistence of pancreas divisum and choledochal cyst in adults has been reported in less than 10 well documented cases. This article presents a case of a 42-year-old Peruvian man with intermittent episodes of abdominal pain, initially diagnosed with choledocholithiasis, who underwent open cholecystectomy...
February 2017: Ann Hepatobiliary Pancreat Surg
https://www.readbyqxmd.com/read/28306536/molecular-defects-identified-by-whole-exome-sequencing-in-a-child-with-atypical-mucopolysaccharidosis-iiib
#20
Qingwen Zeng, Yanjie Fan, Lili Wang, Zhuo Huang, Xuefan Gu, Yongguo Yu
BACKGROUND: Mucopolysaccharidosis IIIB (MPS IIIB) is a genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy. Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice. This misdiagnosis could be avoided by using next-generation sequencing (NGS) techniques, which have been shown to have superior performance for detecting mutations underlying rare inherited disorders in previous studies...
March 17, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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