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Congenital abnormality

Shai Shrot, Bruno P Soares, Matthew T Whitehead
OBJECTIVES: Chiari II malformation is a congenital abnormality characterized by a small posterior fossa with downward displacement of the hindbrain into the foramen magnum. Diffusion-weighted imaging (DWI) can be used to quantitatively characterize brain injury and physiological maturation. We aim to evaluate DWI parameters of the infra- and supratentorial brain in fetuses with Chiari II malformation. METHODS: MRI and US studies of 26 fetuses with Chiari II malformation and 15 controls were evaluated for the presence/severity of hydrocephalus, myelomeningocele level, and brain apparent diffusion coefficient (ADC) values...
August 17, 2018: Fetal Diagnosis and Therapy
Shuolin Li, Sida Liu, Weicheng Chen, Yuan Yuan, Ruoyi Gu, Yangliu Song, Jian Li, Yinyin Cao, Yixiang Lin, Jun Xu, Huijun Wang, Duan Ma, Xiaojing Ma, Wei Sheng, Guoying Huang
Heterotaxy syndrome (HTX) is characterized by left-right (LR) asymmetry disturbances associated with severe heart malformations. However, the exact genetic cause of HTX pathogenesis remains unclear. The aim of this study was to investigate the pathogenic mechanism underlying heterotaxy syndrome. Targeted next-generation sequencing (NGS) was performed for twenty-two candidate genes correlated with LR axis development in sixty-six HTX patients from unrelated families. Variants were filtered from databases and predicted in silico using prediction programs...
August 17, 2018: Scientific Reports
Akhan Akbulut, Egemen Ertugrul, Varol Topcu
BACKGROUND AND OBJECTIVE: Congenital anomalies are seen at 1-3% of the population, probabilities of which are tried to be found out primarily through double, triple and quad tests during pregnancy. Also, ultrasonographical evaluations of fetuses enhance detecting and defining these abnormalities. About 60-70% of the anomalies can be diagnosed via ultrasonography, while the remaining 30-40% can be diagnosed after childbirth. Medical diagnosis and prediction is a topic that is closely related with e-Health and machine learning...
September 2018: Computer Methods and Programs in Biomedicine
Scott Cohen, Michael G Earing
It is well-recognized now that adult survivors with congenital heart disease (ACHD) are at risk for non-cardiac co-morbidities and complications that can impact symptoms and clinical outcomes. Cognitive dysfunction, in particular, is common in this population, but likely an under-recognized and undertreated cause for long-term morbidity. Abnormal cognitive function has a major impact on all aspects of quality of life, including employment opportunities, educational attainment, and the ability to maintain meaningful social relationships, such as marriage...
August 14, 2018: Progress in Cardiovascular Diseases
Elma El Khouri, Marjorie Whitfield, Laurence Stouvenel, Archana Kini, Brigitte Riederer, Patrick Lores, Dorothee Romermann, Gabriella di Stefano, Joël R Drevet, Fabrice Saez, Ursula Seidler, Aminata Toure
Members of the Solute Carrier 26 (SLC26) family have emerged as important players in mediating anions fluxes across the plasma membrane of epithelial cells, in cooperation with the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) chloride channel. Among them, SLC26A3 acts as a chloride/bicarbonate exchanger, highly expressed in the gastrointestinal, pancreatic and renal tissues. In humans, mutations in the SLC26A3 gene were shown to induce congenital Chloride-Losing Diarrhea (CLD), a rare autosomal recessive disorder characterized by life-long secretory diarrhea...
August 17, 2018: Molecular Reproduction and Development
Eugenio Hardy, Anette Hardy-Sossa, Carlos Fernandez-Patron
Matrix metalloproteinase-2 (MMP-2) cleaves a broad spectrum of substrates including extracellular matrix components (responsible for normal tissue remodeling) and cytokines (modulators of the inflammatory response to physiological insults such as tissue damage). MMP-2 expression is elevated in many pathologies (e.g., myocardial infarction, hypertensive heart disease, inflammation) where tissue remodeling and inflammatory responses are perturbed. Thus, it has generally been assumed that blockade of MMP-2 activity will yield therapeutic effects...
August 17, 2018: American Journal of Physiology. Heart and Circulatory Physiology
Akiko Sumitomo, Kouta Horike, Kazuko Hirai, Nancy Butcher, Erik Boot, Takeshi Sakurai, Frederick C Nucifora, Anne S Bassett, Akira Sawa, Toshifumi Tomoda
Individuals with chromosome 22q11.2 deletions are at increased risk of developing psychiatric conditions, most notably, schizophrenia (SZ). Recently, clinical studies have also implicated these recurrent 22q11.2 deletions with the risk of early-onset Parkinson's disease (PD). Thus far, the multiple mouse models generated for 22q11.2 deletions have been studied primarily in the context of congenital cardiac, neurodevelopmental, and psychotic disorders. One of these is the Df1 /+ model, in which SZ-associated and developmental abnormalities have been reported...
August 2018: Science Advances
Xinyue Shen, Manhui Zhu, Lihua Kang, Yuanyuan Tu, Lele Li, Rutan Zhang, Bai Qin, Mei Yang, Huaijin Guan
Purpose: Lanosterol synthase (LSS) abnormity contributes to lens opacity in rats, mice, dogs, and human congenital cataract development. This study examined whether LSS pathway has a role in different subtypes of age-related cataract (ARC). Methods: A total of 390 patients with ARC and 88 age-matched non-ARC patients were enrolled in this study. LSS expression was analyzed by western blot and enzyme-linked immunosorbent assay (ELISA). To further examine the function of LSS, we used U18666A, an LSS inhibitor in rat lens culture system...
2018: Journal of Ophthalmology
O Lavergne, E Troisfontaines, A Verstraete, M Demarche, H Nicolas
The Persistent Müllerian Ducts Syndrome (PMDS) is a rare congenital syndrome. It is one of abnormalities of genito-sexual development that is found on the normally virilized boy (46XY). It is characterized by the development of both Wolf structures and Müller duct. The pathophysiology can be explained by an action deficit of the anti-müllerian hormone (AMH). Its clinical presentations vary depending on the localization of the testis and the associated symptoms. Its discovery is mostly fortuitous and generally made in per-operative surgery of cryptorchidism or inguinal hernia...
July 2018: Revue Médicale de Liège
Takuya Miura, Reina Makino, Kouhei Yamada, Miku Matsuura, Misaki Okumura, Souichi Yamada, Shinji Watanabe, Naoki Inoue
As congenital cytomegalovirus (CMV) infection is the major cause of developmental abnormalities in children, the development of effective vaccines is critical to public health. Recent studies have demonstrated that the pentameric complex (Pentamer) of glycoproteins, which is required for human CMV infection of endothelial and epithelial cells, could be a potent vaccine antigen. As guinea pig CMV (GPCMV) infects congenitally and encodes homologues of all Pentamer components, GPCMV models are considered to be useful for the development of vaccine strategies...
August 16, 2018: Journal of General Virology
Katherine Y Liu, Jesse D Sengillo, Gabriel Velez, Ruben Jauregui, Lynn Y Sakai, Irene H Maumenee, Alexander G Bassuk, Vinit B Mahajan, Stephen H Tsang
BACKGROUND: SLIT2 is a protein ligand for the Roundabout (ROBO) receptor and was found to play a major role in repulsive midline axon guidance in central nervous system development. Based on studies utilizing knockout models, it has been postulated that SLIT2 is important for preventing inappropriate axonal routing during mammalian optic chiasm development. METHODS: Case report. RESULTS: Here, we report a case of congenital myopia, anisometropia, and obesity in a patient with a SLIT2 point mutation...
August 15, 2018: Orphanet Journal of Rare Diseases
Sachi Matsubayashi, Manabu Suzuki, Tomoyuki Suzuki, Ayako Shiozawa, Konomi Kobayashi, Satoru Ishii, Motoyasu Iikura, Shinyu Izumi, Koichiro Kudo, Haruhito Sugiyama
BACKGROUND: Yellow nail syndrome (YNS) is a rare disease characterized by the triad of thickened, slow-growing yellow nails, lymphedema, and chronic respiratory manifestations. The cause of YNS is not known; however, it is suggested to be due to a congenital lymph abnormality. Since YNS is accompanied by chronic bronchial infection in more than half of patients, we hypothesized that treatment with clarithromycin (CAM) could be effective. We therefore evaluated the effectiveness of CAM against nail discoloration and respiratory manifestation in patients with YNS...
August 15, 2018: BMC Pulmonary Medicine
Tibor Rovel, Virginie Coudry, Jean-Marie Denoix, Fabrice Audigie
CASE DESCRIPTION Over a 2-year period, 6 horses (4 Selle Français, 1 Hanoverian, and 1 Thoroughbred) were referred for evaluation of forelimb lameness. All horses had radiographic evidence of synostosis of the first and second ribs (SFSR). CLINICAL FINDINGS For 1 horse, the SFSR was considered the probable cause of the lameness (grade 3/5), with a shortening of the cranial phase of the stride in the affected limb. For 3 horses, it was considered a possible cause of the lameness (grade 1/5) for the same reason...
September 1, 2018: Journal of the American Veterinary Medical Association
Sajal Jain, Harpal S Buttar, Meena Chintameneni, Ginpreet Kaur
BACKGROUND: Inflammation-induced endothelial abnormalities, dietary habits, and tobacco smoking are considered to be the primary risk factors for causing atherosclerosis and cardiovascular diseases (CVDs), including coronary heart disease (CHD), cerebrovascular disorders, peripheral arterial disease, rheumatic heart disease, congenital heart defects, deep vein thrombosis and pulmonary embolism. Prevention of CVDs with anti-inflammatory and anti-oxidant agents has been a challenging task for decades...
August 15, 2018: Recent Patents on Inflammation & Allergy Drug Discovery
Alberto Verrotti, Marco Greco, Gaia Varriale, Agnese Tamborino, Salvatore Savasta, Marco Carotenuto, Maurizio Elia, Francesca Operto, Lucia Margari, Vincenzo Belcastro, Angelo Selicorni, Elena Freri, Sara Matricardi, Tiziana Granata, Francesca Ragona, Giuseppe Capovilla, Alberto Spalice, Giangennaro Coppola, Pasquale Striano
OBJECTIVIES: Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, congenital heart defects. Epilepsy can be another feature but there are few data about the types of seizures and long term prognosis. The aim of this work was to analyse the electroclinical phenotype and the long-term outcome in patients with monosomy 1p36 syndrome and epilepsy...
August 14, 2018: Acta Neurologica Scandinavica
Soh Nishimoto, Kurumi Moriguchi, Hisako Ishise, Konosuke Ikemura
Fibrous dysplasia is a rare congenital disorder, with abnormal hypertrophy of affected bone. A 17-year-old girl with a protrusion on her right forehead presented and was diagnosed as craniofacial fibrous dysplasia. Although she had no gait problem, her right leg was longer than the other. She had vascular malformation on the right leg. The condition was diagnosed as Klippel-Trénaunay syndrome, which also is a rare disorder. As the prevalence of these disorders is scarce, the probability of coincidental association of them is extremely low...
August 2018: Journal of Surgical Case Reports
Kate Baker, Sarah L Gordon, Holly Melland, Fabian Bumbak, Daniel J Scott, Tess J Jiang, David Owen, Bradley J Turner, Stewart G Boyd, Mari Rossi, Mohammed Al-Raqad, Orly Elpeleg, Dawn Peck, Grazia M S Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias Haack, Zornitza Stark, Simon Sadedin, Tiong Yang Tan, Yunyun Jiang, Richard A Gibbs, Sara Ellingwood, Michelle Amaral, Whitley Kelley, Manju A Kurian, Michael A Cousin, F Lucy Raymond
Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1. All mutations alter highly conserved residues, and cluster in two regions of the SYT1 C2B domain at positions Met303 (M303K), Asp304 (D304G), Asp366 (D366E), Ile368 (I368T) and Asn371 (N371K). Phenotypic features include infantile hypotonia, congenital ophthalmic abnormalities, childhood-onset hyperkinetic movement disorders, motor stereotypies, and developmental delay varying in severity from moderate to profound...
August 13, 2018: Brain: a Journal of Neurology
Maciej Jóźwik, Marcin Jóźwik, Kamil Zaręba, Andrzej Semczuk, Beata Modzelewska, Michał Jóźwik
AIMS: Vesicouterine fistulas (VUFs) are infrequent abnormal connections between the bladder and the uterine cavity or cervical canal, being mainly sequelae of repeat Cesarean sections. Exceedingly rare are congenital VUFs. This is a systematic review of available world data aimed to characterize congenital VUFs and better understand the mechanism(s) of their formation. METHODS: The PubMed® database via MEDLINE® search engine was explored from its inception to March 2018...
August 14, 2018: Neurourology and Urodynamics
Hao Liu, Xue Li, Wen Qian Yu, Cai Xia Liu
Congenital diaphragmatic hernia (CDH) is a common congenital malformation associated with high mortality rates, mainly due to pulmonary hypoplasia and persistent pulmonary hypertension following birth. The present study aimed to investigate abnormal lung development in a rat CDH model, and examine temporal and spatial changes in the expression of ephrin type‑B receptor 4 (EPHB4) and ephrin‑B2 (EFNB2) during fetal lung development, to elucidate the role of these factors during lung morphogenesis. Pregnant rats received nitrofen on embryonic day (E) 8...
August 14, 2018: International Journal of Molecular Medicine
Stephanie Efthymiou, Vincenzo Salpietro, Conceicao Bettencourt, Henry Houlden
Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses...
September 2018: Journal of Pediatric Genetics
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