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https://www.readbyqxmd.com/read/28108286/the-impact-of-zika-virus-in-the-brain
#1
Fabiele Baldino Russo, Patricia Cristina Baleeiro Beltrão-Braga
The recent outbreak of ZIKV in Brazil called the attention of the world because the effects of viral infection in the brain under development in fetuses. Consequences of vertical infection comprise brain malformation, especially microcephaly, eye and musculoskeletal abnormalities, among others. In adults, outcomes of infection include meningoencephalitis and Guillain-Barré syndrome. Recent data specific suggest that neural progenitor cells are the main targets of ZIKV infection, causing massive cellular death, which in turns, causes impairment in the neurogenesis process...
January 17, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28107085/registry-of-ocular-anomalies-among-patients-with-genetic-disorders-attending-the-clinical-genetics-department-at-the-national-research-centre-in-egypt
#2
Ola M Eid, Sawsan Abdel Hady, Ahmed El-Kotoury, Khalda A Said, Karima Rafat, Hala T El-Bassyouni
BACKGROUND: The congenital abnormalities of eyes are a major cause of visual impairment throughout the world. Prevention of visual impairment due to congenital and infantile abnormalities of eyes is very important. The aim of this study is to evaluate the frequency and types of congenital ocular anomalies among patients with genetic disorders. PATIENTS AND METHODS: This is a retrospective study that was conducted in the National Research Center, Egypt at the Clinical Genetics Department over a 4-year period...
January 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28106023/robotic-surgery-for-atrial-septal-defect-closure-in-a-case-of-kabuki-syndrome
#3
Burak Onan, Ünal Aydın, Zeynep Kahraman, İhsan Bakır
Kabuki syndrome is a rare congenital malformation syndrome characterized by mental retardation, skeletal deformities, auditory dysfunction, cardiac defects, and distinctive facial appearance. Although complex cardiovascular malformations present in early childhood, rarely, atrioventricular septal defects may also present in young adults. Presently described is case of a 22-year-old female with KS who presented with ostium secundum atrial septal defect with deficient rim and idiopathic thrombocytopenic purpura...
January 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28102591/hyperinsulinemic-hypoglycemia-in-beckwith-wiedemann-sotos-and-kabuki-syndromes-a-nationwide-survey-in-japan
#4
Naoko Toda, Kenji Ihara, Kanako Kojima-Ishii, Masayuki Ochiai, Kazuhiro Ohkubo, Yutaka Kawamoto, Yoshinori Kohno, Sakae Kumasaka, Akihiko Kawase, Yasuhisa Ueno, Takeshi Futatani, Tokuo Miyazawa, Yuko Nagaoki, Setsuko Nakata, Maiko Misaki, Hiroko Arai, Masahiko Kawai, Maki Sato, Yukari Yada, Nobuhiro Takahashi, Atsushi Komatsu, Kanemasa Maki, Shinichi Watabe, Yutaka Sumida, Makoto Kuwashima, Hiroshi Mizumoto, Kazuo Sato, Toshiro Hara
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan. We sent a primary questionnaire concerning the clinical experience for these syndromes to 347 perinatal care institutions...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#5
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28097844/-angel-shaped-phalango-epiphyseal-dysplasia-case-report
#6
René Conci, Alicia Oller, Martín Moya, Adriana Echegaray, Donald Frush
We describe a rare and sporadic condition, characterized by swan neck deformity in hands, hip osteoarthritis in adulthood and malformations of the middle phalanges with an angel shape. The patient is a 4 year old boy who suffered hand trauma and on x-ray examination he was diagnosed with angel-shaped phalango-epiphyseal dysplasia. Based on this diagnosis, his mother, who suffered from constant pain in her hips and lower limbs, was diagnosed with this syndrome as well.
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#7
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28087285/apert-syndrome-a-consensus-on-the-management-of-apert-hands
#8
David A Pettitt, Zeeshaan Arshad, Anuj Mishra, Paul McArthur
INTRODUCTION: Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development...
December 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28078819/live-donor-liver-transplantation-for-a-child-presented-with-severe-hepatopulmonary-syndrome-and-nodular-liver-lesions-due-to-abernethy-malformation
#9
Cahit Yilmaz, Zafer Onen, Rasim Farajov, Onur S Duygu, Latife Doganay, Alper Yuksel, Mehmet Alper, Murat Zeytunlu, Cigdem Arikan, Murat Kilic
A 15-year-old boy first presented with severe lung lesions and hypoxia and he was considered as a lung transplant candidate. Upon evaluation, hepatopulmonary syndrome, multiple nodular liver lesions, and Abernethy type 1b malformation were diagnosed. The patient underwent successful right lobe live donor liver transplantation, and all of the symptoms disappeared soon after the transplant. He is currently alive and well with excellent liver and lung functions 4 years after surgery.
January 12, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28076021/radiologic-assessment-of-native-renal-vasculature-a-multimodality-review
#10
Sayf Al-Katib, Monisha Shetty, Syed Mohammad A Jafri, Syed Zafar H Jafri
A wide range of clinically important anatomic variants and pathologic conditions may affect the renal vasculature, and radiologists have a pivotal role in the diagnosis and management of these processes. Because many of these entities may not be suspected clinically, renal artery and vein assessment is an essential application of all imaging modalities. An understanding of the normal vascular anatomy is essential for recognizing clinically important anatomic variants. An understanding of the protocols used to optimize imaging modalities also is necessary...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#11
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#12
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
January 10, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28069378/role-of-n-glycosylation-on-zika-virus-e-protein-secretion-viral-assembly-and-infectivity
#13
M Mossenta, S Marchese, M Poggianella, J L Slon Campos, O R Burrone
Zika virus has rapidly spread reaching a global distribution pattern similar to that of dengue virus, and has been associated with serious neurological and developmental pathologies, like congenital malformation during pregnancy and Guillain-Barré syndrome. Sequence analysis of different clinical and laboratory isolates has shown the existence of mutants with loss of the conserved N-glycosylation motif on domain I of protein E that is common to all flaviviruses. We found that loss of E N-linked glycosylation leads to compromised expression and secretion of E ectodomain from mammalian cells...
January 6, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28068594/prevention-of-spontaneous-preterm-birth-guidelines-for-clinical-practice-from-the-french-college-of-gynaecologists-and-obstetricians-cngof
#14
REVIEW
Loïc Sentilhes, Marie-Victoire Sénat, Pierre-Yves Ancel, Elie Azria, Guillaume Benoist, Julie Blanc, Gilles Brabant, Florence Bretelle, Stéphanie Brun, Muriel Doret, Chantal Ducroux-Schouwey, Anne Evrard, Gilles Kayem, Emeline Maisonneuve, Louis Marcellin, Stéphane Marret, Nicolas Mottet, Sabine Paysant, Didier Riethmuller, Patrick Rozenberg, Thomas Schmitz, Héloïse Torchin, Bruno Langer
In France, 60,000 neonates are born preterm every year (7.4%), half of them after the spontaneous onset of labor. Among preventable risk factors of spontaneous prematurity, only cessation of smoking is associated with decreased prematurity (level of evidence [LE]1). It is therefore recommended (Grade A). Routine screening and treatment of vaginal bacteriosis is not recommended in the general population (Grade A). The only population for which vaginal progesterone is recommended is that comprising asymptomatic women with singleton pregnancies, no history of preterm delivery, and a short cervix at 16-24 weeks of gestation (Grade B)...
December 30, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28067909/smchd1-mutations-associated-with-a-rare-muscular-dystrophy-can-also-cause-isolated-arhinia-and-bosma-arhinia-microphthalmia-syndrome
#15
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-Ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism. We discovered shared mutations and comparable DNA hypomethylation patterning between these distinct disorders...
January 9, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28064423/pathophysiology-diagnosis-and-management-of-glaucoma-associated-with-sturge-weber-syndrome
#16
REVIEW
Usman Javaid, Muhammad Hassaan Ali, Samreen Jamal, Nadeem Hafeez Butt
PURPOSE: Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal hemangioma, facial angiomatosis or nevus flammeus, and ocular changes. SWS can lead to severe complications of anterior segment involving conjunctiva and eyelids, whereas posterior segment of the eye may also be affected by diffuse choroidal hemorrhages. This article was written with the objectives to determine the pathophysiology, diagnosis, and treatment of glaucoma associated with this rare and challenging disorder...
January 7, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#17
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28057266/t-box-genes-in-the-kidney-and-urinary-tract
#18
A Kispert
T-box (Tbx) genes encode an ancient group of transcription factors that play important roles in patterning, specification, proliferation, and differentiation programs in vertebrate organogenesis. This is testified by severe organ malformation syndromes in mice homozygous for engineered null alleles of specific T-box genes and by the large number of human inherited organ-specific diseases that have been linked to mutations in these genes. One of the organ systems that has not been associated with loss of specific T-box gene function in human disease for long is the excretory system...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28054444/heterozygous-pathogenic-variant-in-dact1-causes-an-autosomal-dominant-syndrome-with-features-overlapping-townes-brocks-syndrome
#19
Bryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, Mingma D Sherpa, Sander M Houten, Marko E Horb, Eric E Schadt
A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419* variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations...
January 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28052552/celsr2-encoding-a-planar-cell-polarity-protein-is-a-putative-gene-in-joubert-syndrome-with-cortical-heterotopia-microophthalmia-and-growth-hormone-deficiency
#20
Thierry Vilboux, May Christine V Malicdan, Joseph C Roney, Andrew R Cullinane, Joshi Stephen, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Peter J Steinbach, William A Gahl, Meral Gunay-Aygun
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity...
January 4, 2017: American Journal of Medical Genetics. Part A
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