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https://www.readbyqxmd.com/read/28729231/cernunnos-deficiency-associated-with-bcg-adenitis-and-autoimmunity-first-case-from-the-national-iranian-registry-and-review-of-the-literature
#1
Reza Yazdani, Hassan Abolhassani, Javad Tafaroji, Gholamreza Azizi, Raif S Geha, Asghar Aghamohammadi
Non-homologous end-joining (NHEJ) is a pathway that repairs double-strand breaks (DSB) in DNA and plays a vital role in V(D)J recombination of immunoglobulin genes. Cernunnos is a DNA repair factor that is involved in nonhomologous end-joining (NHEJ) process. Impairment in Cernunnos leads to a genetic disease characterized by neural disorders, immunodeficiency and increased radiosensitivity. We herein describe a severe combined immunodeficiency (SCID) patient with T- B+ phenotype who had a mutation in Cernunnos gene and manifested recurrent infections, microcephaly and growth retardation with hypogammaglobulinemia...
July 17, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28728607/zika-virus-transmission-to-mouse-ear-by-mosquito-bite-a-laboratory-model-that-replicates-the-natural-transmission-process
#2
Nagila Francinete Costa Secundino, Barbara Aparecida Chaves, Alessandra Silva Orfano, Karine Renata Dias Silveira, Nilton Barnabe Rodrigues, Thais Bonifácio Campolina, Rafael Nacif-Pimenta, Luiz Eduardo Martinez Villegas, Breno Melo Silva, Marcus Vinícius Guimarães Lacerda, Douglas Eric Norris, Paulo Filemon Paolucci Pimenta
BACKGROUND: Zika disease has transformed into a serious global health problem due to the rapid spread of the arbovirus and alarming severity including congenital complications, microcephaly and Guillain-Barré syndrome. Zika virus (ZIKV) is primarily transmitted to humans through the bite of an infective mosquito, with Aedes aegypti being the main vector. METHODS: We successfully developed a ZIKV experimental transmission model by single infectious Ae. aegypti bite to a laboratory mouse using circulating Brazilian strains of both arbovirus and vector...
July 20, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28726664/expanded-phenotype-of-tmem67-gene-mutation-case-report
#3
T Tkemaladze, G Melikishvili, V Kherkheulidze, A Melikishvili, T Davitaia
Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The involvement of the mutant TMEM67 gene is known to be associated with a broad range of clinical presentations, namely Joubert syndrome 6 (JBTS6), nephronophthisis 11 (NPHP11), Bardet-Biedel syndrome (BBS), COACH syndrome, and lethal Meckel syndrome type 3 (MKS3)...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#4
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28720660/an-amish-founder-mutation-disrupts-a-pi-3-p-whamm-arp2-3-complex-driven-autophagosome-remodeling-pathway
#5
Alyssa J Mathiowetz, Emma Baple, Ashley J Russo, Alyssa M Coulter, Eric Carrano, Judith D Brown, Robert N Jinks, Andrew H Crosby, Kenneth G Campellone
Actin nucleation factors function to organize, shape, and move membrane-bound organelles, yet they remain poorly defined in relation to disease. Galloway-Mowat syndrome (GMS) is an inherited disorder characterized by microcephaly and nephrosis resulting from mutations in the WDR73 gene. This core clinical phenotype appears frequently in the Amish, where virtually all affected individuals harbor homozygous founder mutations in WDR73 as well as the closely linked WHAMM gene, which encodes a nucleation factor...
July 18, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28720553/response-to-growth-hormone-treatment-in-a-patient-with-insulin-like-growth-factor-1-receptor-igf1r-deletion
#6
Ranim Mahmoud, Ajanta Naidu, Hiba Risheg, Virginia Kimonis
We report a six year-old boy who presented with short stature, microcephaly, dysmorphic features and developmental delay, who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin like growth factor receptor (IGF1R) gene, in addition to a terminal duplication of the 4q35.1q35.2 region. We compare our case with other reports of deletions and mutations affecting the IGF1R gene associated with pre-and postnatal growth restriction. We report the dramatic response to growth hormone therapy in this patient which highlights the importance of identifying patients with IGF1R deletion and treating them early...
July 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28719506/zika-virus-associated-ocular-and-neurologic-disorders-the-emergence-of-new-evidence
#7
Fatih Şahiner, Ali Korhan Siğ, Ümit Savaşçi, Kemal Tekin, Fahrettin Akay
BACKGROUND: It has been approximately 70 years since the discovery of the Zika virus (ZIKV). It had been established that the virus causes mild infections, and is confined to Africa and Asia; however, major changes in the clinical and epidemiologic patterns of ZIKV infection have occurred in recent years. The virus has attracted intense interest because of the possible association of several autoimmune and neurodevelopmental disorders. METHODS: We present a summary of the articles that attempt to explain the ZIKV unknowns, and strengthen the association with some disorders that are thought to be related to ZIKV, by describing the discovery milestones from the initial identification of the virus to the present day...
July 13, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28719330/case-report-microcephaly-in-twins-due-to-the-zika-virus
#8
Victor S Santos, Sheila J G Oliveira, Ricardo Q Gurgel, Dorothy R R Lima, Cliomar A Dos Santos, Paulo R S Martins-Filho
Recent studies have demonstrated an association between congenital Zika virus (ZIKV) infection and microcephaly; however, to date, there have been no reports on the consequences of ZIKV infection on fetuses in twin pregnancies. Herein, we reported on the first case of a monochorionic diamniotic (MCDA) twin pregnancy having ZIKV-related microcephaly. Our findings suggested that, in an MCDA twin pregnancy, the ZIKV may cause infection in both fetuses, resulting in severe abnormalities in the central nervous system due to neural cell destruction and the disruption of the normal development processes of the brain...
July 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719291/knowledge-and-prevention-practices-among-u-s-pregnant-immigrants-from-zika-virus-outbreak-areas
#9
Abbey B Berenson, Ha N Trinh, Jacqueline M Hirth, Fangjian Guo, Erika L Fuchs, Scott C Weaver
We administered an anonymous survey to assess knowledge, attitudes, and prevention practices related to the Zika virus among pregnant women residing in Texas. Multivariate logistic regression models controlling for age, race/ethnicity, education, and number of years in the United States assessed differences between women born in outbreak areas (N = 390) versus those born in the United States (N = 249). Results demonstrated that most women wanted more information on the Zika virus and desired to obtain it from their physician...
July 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#10
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28715527/screening-criteria-for-ophthalmic-manifestations-of-congenital-zika-virus-infection
#11
Andrea A Zin, Irena Tsui, Julia Rossetto, Zilton Vasconcelos, Kristina Adachi, Stephanie Valderramos, Umme-Aiman Halai, Marcos Vinicius da Silva Pone, Sheila Moura Pone, Joel Carlos Barros Silveira Filho, Mitsue S Aibe, Ana Carolina C da Costa, Olivia A Zin, Rubens Belfort, Patricia Brasil, Karin Nielsen-Saines, Maria Elisabeth Lopes Moreira
Importance: Current guidelines recommend screening eye examinations for infants with microcephaly or laboratory-confirmed Zika virus infection but not for all infants potentially exposed to Zika virus in utero. Objective: To evaluate eye findings in a cohort of infants whose mothers had polymerase chain reaction-confirmed Zika virus infection during pregnancy. Design, Setting, and Participants: In this descriptive case series performed from January 2 through October 30, 2016, infants were examined from birth to 1 year of age by a multidisciplinary medical team, including a pediatric ophthalmologist, from Fernandes Figueira Institute, a Ministry of Health referral center for high-risk pregnancies and infectious diseases in children in Rio de Janeiro, Brazil...
July 17, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28712937/returning-ex-patriot-chinese-to-guangdong-china-increase-the-risk-for-local-transmission-of-zika-virus
#12
Jiufeng Sun, De Wu, Haojie Zhong, Dawei Guan, Huan Zhang, Qiqi Tan, Huiqiong Zhou, Meng Zhang, Dan Ning, Baohuan Zhang, Changwen Ke, Tie Song, Jinyan Lin, Yonghui Zhang, Marion Koopmans, George F Gao
OBJECTIVES: Rapid transmission and linkage to microcephaly and Guillain-Barre syndrome have made Zika virus (ZIKV) infection become a serious threat to global public health. The epidemiology, virological characteristics and genetic evolution of introduced ZIKV to Guangdong, China, were investigated. METHODS: Analyses of the epidemiological characteristics and genetic diversity of ZIKV isolates were performed. RESULTS: Nineteen confirmed ZIKV infection cases were imported from Venezuela and Samoa...
July 14, 2017: Journal of Infection
https://www.readbyqxmd.com/read/28711742/microcephaly-with-simplified-gyral-pattern-epilepsy-and-permanent-neonatal-diabetes-syndrome-meds-a-new-patient-and-review-of-the-literature
#13
Irene Valenzuela, Susana Boronat, Elena Martínez-Sáez, María Clemente, Ángel Sánchez-Montañez, Francina Munell, Antonio Carrascosa, Alfons Macaya
Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant presenting with lethargy at age five weeks and clinical findings of persistent hyperglycaemia and microcephaly with simplified gyration, suggestive of MEDS. The diagnosis was confirmed by the detection of a known c.233 T > C mutation in the IER3IP1 gene. Only eight cases of MEDS have been reported in the literature...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28711741/confirmation-that-mutations-in-ddx59-cause-an-autosomal-recessive-form-of-oral-facial-digital-syndrome-further-delineation-of-the-ddx59-phenotype-in-two-new-families
#14
Sara Faily, Rahat Perveen, Jill Urquhart, Kate Chandler, Jill Clayton-Smith
We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation, cleft palate, frontal bossing, hypertelorism and postaxial polydactyly. All three probands had lobulated tongues with tongue hamartomas, abnormal tongue tip, developmental delay and microcephaly, with just one proband demonstrating polydactlyly...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28711739/homozygous-c-359del-variant-in-mgme1-is-associated-with-early-onset-cerebellar-ataxia
#15
Malavika Hebbar, Katta M Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukla
We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28710796/plant-produced-zika-virus-envelope-protein-elicits-neutralizing-immune-responses-that-correlate-with-protective-immunity-against-zika-virus-in-mice
#16
Ming Yang, Haiyan Sun, Huafang Lai, Jonathan Hurtado, Qiang Chen
The global Zika virus (ZIKV) outbreak and its link to fetal and newborn microcephaly and severe neurological complications in adults call for the urgent development of ZIKV vaccines. In response, we developed a subunit vaccine based on the ZIKV envelope (E) protein and investigated its immunogenicity in mice. Transient expression of ZIKV E (zE) resulted in its rapid accumulation in leaves of Nicotiana benthamiana plants. Biochemical analysis revealed that plant-produced ZIKV E (PzE) exhibited specific binding to a panel of monoclonal antibodies that recognize various zE conformational epitopes...
July 15, 2017: Plant Biotechnology Journal
https://www.readbyqxmd.com/read/28706281/thiamine-metabolism-is-critical-for-regulating-correlated-growth-of-dendrite-arbors-and-neuronal-somata
#17
Huimin Liu, Shaoming Sang, Yuan Lu, Zhongfeng Wang, Xiang Yu, Chunjiu Zhong
Thiamine is critical for cellular function, as its phosphorylated and active form, thiamine diphosphate (TDP), acts as coenzyme for three key enzymes in glucose metabolism. Mutations in thiamine transporter, TDP synthesizing enzyme or carrier, including solute carrier family 19 member 3 (SLC19A3), thiamine pyrophosphokinase (TPK1) and solute carrier family 25 member 19 (SLC25A19), have been associated with developmental neurological disorders, including microcephaly and Leigh syndrome. However, little is known about how thiamine metabolism regulates neuronal morphology at the cellular level...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704657/dual-blades-the-role-of-musashi-1-in-zika-replication-and-microcephaly
#18
Robyn S Klein
Infection with Zika virus (ZIKV) during pregnancy may cause severe developmental defects in the human brain via unknown mechanisms. In a recent issue of Science, Chavali et al. (2017) identified a neural progenitor cell (NPC)-specific RNA binding protein that may underlie the high levels of ZIKV replication and apoptosis observed in these cells during congenital infections.
July 12, 2017: Cell Host & Microbe
https://www.readbyqxmd.com/read/28700665/solution-conformations-of-zika-ns2b-ns3pro-and-its-inhibition-by-natural-products-from-edible-plants
#19
Amrita Roy, Liangzhong Lim, Shagun Srivastava, Yimei Lu, Jianxing Song
The recent Zika viral (ZIKV) epidemic has been associated with severe neurological pathologies such as neonatal microcephaly and Guillain-Barre syndrome but unfortunately no vaccine or medication is effectively available yet. Zika NS2B-NS3pro is essential for the proteolysis of the viral polyprotein and thereby viral replication. Thus NS2B-NS3pro represents an attractive target for anti-Zika drug discovery/design. Here, we have characterized the solution conformations and catalytic parameters of both linked and unlinked Zika NS2B-NS3pro complexes and found that the unlinked complex manifested well-dispersed NMR spectra...
2017: PloS One
https://www.readbyqxmd.com/read/28698215/paper-of-note-in-science357-6346
#20
Annalisa M VanHook
This week's article offers a possible explanation for how Zika virus causes microcephaly.
July 11, 2017: Science Signaling
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