Database : MEDLINE
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[PMID]: 29500860
[Au] Autor:Radio FC; Di Meglio L; Agolini E; Bellacchio E; Rinelli M; Toscano P; Boldrini R; Novelli A; Di Meglio A; Dallapiccola B
[Ad] Address:Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[Ti] Title:Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
[So] Source:Mol Genet Genomic Med;, 2018 Mar 03.
[Is] ISSN:2324-9269
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. METHODS: We report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment. RESULTS: The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding. CONCLUSION: Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher
[do] DOI:10.1002/mgg3.376

  2 / 561 MEDLINE  
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[PMID]: 29333830
[Au] Autor:Marín GR; Baspineiro B; Vilca I
[Ad] Address:Unidad de Nefrología, Hospital Materno Infantil "Héctor Quintana", Jujuy, Argentina. viltipocovalefer@gmail.com.
[Ti] Title:Tratamiento con desmopresina sublingual en dos lactantes con hidranencefalia y diabetes insípida central. [Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus].
[So] Source:Arch Argent Pediatr;116(1):e93-e97, 2018 Feb 01.
[Is] ISSN:1668-3501
[Cp] Country of publication:Argentina
[La] Language:spa
[Ab] Abstract:Central diabetes insipidus is a rare disease in children caused by a deficiency of vasopressin. Its main clinical manifestations are polyuria and polydipsia. Brain malformations are one of the main causes. Desmopressin is the synthetic drug of choice for the treatment. One of the routes of administration is sublingual and its use in infants is very limited. We describe two infants with central diabetes insipidus and hydranencephaly who were successfully treated with sublingual desmopressin.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180115
[Lr] Last revision date:180115
[St] Status:In-Data-Review
[do] DOI:10.5546/aap.2018.e93

  3 / 561 MEDLINE  
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[PMID]: 29210884
[Au] Autor:Nahm M; Rousseau D; Greyson B
[Ti] Title:Discrepancy Between Cerebral Structure and Cognitive Functioning: A Review.
[So] Source:J Nerv Ment Dis;205(12):967-972, 2017 Dec.
[Is] ISSN:1539-736X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Neuroscientists typically assume that human mental functions are generated by the brain and that its structural elements, including the different cell layers and tissues that form the neocortex, play specific roles in this complex process. Different functional units are thought to complement one another to create an integrated self-awareness or episodic memory. Still, findings that pertain to brain dysplasia and brain lesions indicate that in some individuals there is a considerable discrepancy between the cerebral structures and cognitive functioning. This seems to question the seemingly well-defined role of these brain structures. This article provides a review of such remarkable cases. It contains overviews of noteworthy aspects of hydrocephalus, hemihydranencephaly, hemispherectomy, and certain abilities of "savants." We add considerations on memory processing, comment on the assumed role of neural plasticity in these contexts, and highlight the importance of taking such anomalies into account when formulating encompassing models of brain functioning.
[Mh] MeSH terms primary: Brain/pathology
Brain/physiology
Hemispherectomy
Hydranencephaly/pathology
Hydrocephalus/pathology
Intelligence/physiology
Memory/physiology
[Mh] MeSH terms secundary: Adolescent
Adult
Child
Humans
Hydranencephaly/physiopathology
Hydrocephalus/physiopathology
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 171212
[Lr] Last revision date:171212
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:171207
[St] Status:MEDLINE
[do] DOI:10.1097/NMD.0000000000000752

  4 / 561 MEDLINE  
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[PMID]: 29111139
[Au] Autor:Sibhat B; Ayelet G; Gebremedhin EZ; Skjerve E; Asmare K
[Ad] Address:College of Veterinary Medicine, Haramaya University, P.O. Box 138, Dire Dawa, Ethiopia. Electronic address: berhanusibhat@gmail.com.
[Ti] Title:Seroprevalence of Schmallenberg virus in dairy cattle in Ethiopia.
[So] Source:Acta Trop;178:61-67, 2017 Oct 27.
[Is] ISSN:1873-6254
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Schmallenberg virus (SBV) is a recently identified member of the genus Orthobunyavirus of the family Bunyaviridae. It is an arbovirus transmitted by different members of Culicoides spp of biting midges. The virus is more recognized for its effect on reproductive disorders in ruminants characterised by abortion, stillbirth and birth of congenitally defective newborns with hydranencephaly-arthrogryposis syndrome. The current study was undertaken with the objectives of exploring the presence of SBV exposure and identification of factors affecting its distribution among dairy cattle in Ethiopia. A cross-sectional study was conducted on 1379 dairy cattle sampled from 149 dairy herds in central, southern and western Ethiopia during September 2011 to May 2012. Serum samples were examined using competitive enzyme linked immunosorbent assay (cELISA). Data on hypothesised risk factors were collected from farm records where available and semi-structured questionnaire-based interview. The apparent seroprevalence of exposure to SBV was 56.6% (95% confidence interval (CI): 53.9-59.3). True prevalence adjusted for sensitivity and specificity of the cELISA kit used was 58.3% (95% CI 55.7-60.9). Among the sampled herds, 82.6% (95% CI: 75.5-88.3) had at least one seropositive animal. Seropositive cattle were found in all of the 15 conurbations studied. Adult dairy cows [odds ratio (OR)=1.6] were more commonly affected than young heifers. Dairy cattle kept in commercial (OR=1.6) and breeding farms (OR=3.5) and Midland agroecology (OR=2.5) showed statistically significant seroconversion than cattle kept under small-holder dairy farms and Highland agroecology respectively (p<0.05). Reproductive disorders including abortion, retention of the fetal membranes, and metritis were associated with serostatus of SBV. In conclusion, the seroprevalence of SBV is high and widely distributed in the studied parts of Ethiopia. This being the first study of its kind on SBV in Ethiopia, further longitudinal studies on isolation of the virus and its impact on reproductive disorders are recommended.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171121
[Lr] Last revision date:171121
[St] Status:Publisher

  5 / 561 MEDLINE  
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[PMID]: 29107849
[Au] Autor:Maclachlan NJ; Osburn BI
[Ad] Address:School of Veterinary Medicine, University of California, Davis, CA 95616, USA. Electronic address: njmaclachlan@ucdavis.edu.
[Ti] Title:Teratogenic bluetongue and related orbivirus infections in pregnant ruminant livestock: timing and pathogen genetics are critical.
[So] Source:Curr Opin Virol;27:31-35, 2017 Nov 03.
[Is] ISSN:1879-6265
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Congenital infections of domestic animals with viruses in several families, including Bunyaviridae, Flaviridae, Parvoviridae, and Reoviridae, are the cause of naturally occurring teratogenic central nervous system and/or musculoskeletal defects (arthrogryposis) in domestic animals. Congenital infections of ruminant livestock with bluetongue virus (BTV) and some related members of the genus Orbivirus (family Reoviridae) have clearly shown the critical role of gestational age at infection in determining outcome. Specifically, fetuses infected prior to mid-gestation that survive congenital BTV infection are born with cavitating central nervous system defects that range from severe hydranencephaly to cerebral cysts (porencephaly). Generally, the younger the fetus (in terms of gestational age) at infection, the more severe the teratogenic lesion at birth. Age-dependent virus infection and destruction of neuronal and/or glial cell precursors that populate the developing central nervous system are responsible for these naturally occurring virus-induced congenital defects of animals, thus lesions are most severe when progenitor cells are infected prior to their normal migration during embryogenesis. Whereas congenital infection is characteristic of certain BTV strains, notably live-attenuated (modified-live) vaccine viruses that have been passaged in embryonating eggs, transplacental transmission is not characteristic of many field strains of the virus and much remains to be determined regarding the genetic determinants of transplacental transmission of individual virus strains.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171106
[Lr] Last revision date:171106
[St] Status:Publisher

  6 / 561 MEDLINE  
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[PMID]: 29062207
[Au] Autor:Alsaad KM; Alautaish HHN; Alamery MAY
[Ad] Address:Department of Internal and Preventive Medicine, College of Veterinary Medicine, University of Basrah, Basrah, Iraq.
[Ti] Title:Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq.
[So] Source:Vet World;10(9):1143-1148, 2017 Sep.
[Is] ISSN:0972-8988
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:AIM: The study was conducted in Basrah, Iraq, to diagnose congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus (AKAV) in calves. MATERIALS AND METHODS: Affected animals (42 calves) are about 2-27 days old from both sexes show signs of arthrogryposis and hydranencephaly. Eight clinically healthy newborn calves were considered as controls. Diagnosis of AKAV was confirmed using a competition enzyme-linked immunosorbent assay test. RESULTS: Results show that all affected calves were found seropositive. Furthermore, a significant increase in total leukocyte count in diseased calves due to a significant increase in the absolute lymphocyte number indicated in affected calves than in controls. Moreover, a significant increase in sedimentation rate of erythrocytes was also encountered in diseased calves than in controls. In addition, a significant increase in haptoglobin level and fibrinogen was also detected. CONCLUSION: Diagnosis of AKAV infection of Basrah Governorate, Iraq, will provide useful epidemiological information for cattle and other domesticated animals. Therefore, abortion could be prevented and controlled.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171026
[Lr] Last revision date:171026
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.14202/vetworld.2017.1143-1148

  7 / 561 MEDLINE  
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[PMID]: 29042871
[Au] Autor:Lee KY; Shin E
[Ad] Address:Department of Pediatrics, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
[Ti] Title:Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.
[So] Source:Korean J Pediatr;60(9):282-289, 2017 Sep.
[Is] ISSN:1738-1061
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. RESULTS: Fifteen male and 12 female patients with a mean age of 29.3±17.6 months were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with Möbius syndrome. CONCLUSION: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171022
[Lr] Last revision date:171022
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.3345/kjp.2017.60.9.282

  8 / 561 MEDLINE  
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[PMID]: 28757043
[Au] Autor:Wang J; Blasdell KR; Yin H; Walker PJ
[Ad] Address:CSIRO Health & Biosecurity, Australian Animal Health Laboratory, Geelong 3200, Victoria, Australia; State Key Laboratory of Veterinary Etiological Biology, Key Laboratory of Veterinary Parasitology of Gansu Province, Lanzhou Veterinary Research Institute, Chinese Academy of Agricultural Science,
[Ti] Title:A large-scale serological survey of Akabane virus infection in cattle, yak, sheep and goats in China.
[So] Source:Vet Microbiol;207:7-12, 2017 Aug.
[Is] ISSN:1873-2542
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Akabane virus (AKAV) is a member of the Simbu serogroup, classified in the genus Orthobunyavirus, family Bunyaviridae. AKAV infection can cause abortion, stillbirth, and congenital arthrogryposis and hydranencephaly in cattle and sheep. The distribution and prevalence of AKAV infection in China is still unknown. A total of 2731 sera collected from 2006 to 2015 in 24 provinces of China from cattle, sheep, goats and yak were examined by serum neutralisation test. The overall seroprevalence rates for AKAV antibodies were 21.3% in cattle (471/2215) and 12.0% (17/142) in sheep or goats, and 0% in yak (0/374). The results indicated widespread AKAV infection in China among cattle and sheep but yak appear to have a low risk of infection. Using a selection of 50 AKAV-positive and 25 AKAV-negative cattle sera, neutralisation tests were also conducted to detect antibodies to several other Simbu serogroup bunyaviruses and closely related Leanyer virus. Although inconclusive, the data suggest that both Aino virus and Peaton virus, which have been reported previously in Japan and Korea, may also be present in cattle in China.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170731
[Lr] Last revision date:170731
[St] Status:In-Process

  9 / 561 MEDLINE  
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[PMID]: 28680463
[Au] Autor:Lee R; Nair M
[Ad] Address:Department of Obstetrics and Gynaecology, Royal Gwent Hospital, Newport, UK.
[Ti] Title:Diagnosis and treatment of herpes simplex 1 virus infection in pregnancy.
[So] Source:Obstet Med;10(2):58-60, 2017 Jun.
[Is] ISSN:1753-495X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:A nulliparous woman presented at 21 weeks' gestation with a 72-h history of a rash on her left arm. Initially isolated to the forearm, it had quickly spread, becoming multiple itchy fluid-filled blisters. Blood tests showed mild neutrophilia and raised CRP. Skin swabs demonstrated the presence of herpes simplex virus type 1 (HSV1) DNA. There was no history of previous HSV1 exposure. There is scant literature on uncomplicated cutaneous HSV1 since the majority is oral/genital. The incidence of transmission varies and is dependent on site of infection and immunological status. Type-specific serological testing is recommended to identify a primary first episode infection due to the 30-60% vertical transmission rate. Infection is associated with morbidity and mortality for both mother and fetus including maternal encephalitis, acute retinal necrosis, pneumonia and hepatitis. Neonatal disease can be congenital (cutaneous lesions, microcephaly, hydranencephaly, intracranial calcifications, chorioretinitis, microphthalmia and optic nerve atrophy) or acquired (skin, eyes and mouth disease or central nervous system disease or disseminated disease). Prophylactic aciclovir reduces the number of women with active genital lesions at the time of delivery. If primary infection occurs outside of the first trimester and active genital lesions are present, then vaginal delivery should be avoided. If infection has occurred in the first trimester, vaginal birth can be attempted even in the presence of active lesions. There is no available guidance on prophylactic treatment of non-genital HSV1 in pregnancy.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1707
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1177/1753495X16689434

  10 / 561 MEDLINE  
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[PMID]: 28597309
[Au] Autor:Pedrosa HAR; Lemos SP; Vieira C; Amaral LC; Malheiros JA; Oliveira MM; Gomez RS; Giannetti AV
[Ad] Address:Department of Surgery, School of Medicine, Federal University of Minas Gerais, Rua Santa Catarina 1042 ap: 201, Belo Horizonte, Minas Gerais, 30170-080, Brazil.
[Ti] Title:Choroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus.
[So] Source:Childs Nerv Syst;, 2017 Jun 08.
[Is] ISSN:1433-0350
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:INTRODUCTION: The standard treatment for hydranencephaly and maximal hydrocephalus consists of inserting shunts, although complications frequently occur. Choroid plexus cauterization (CPC) is an alternative, but its long-term efficacy and the factors associated with the success and failure of controlling head circumference (HC) are not well defined. OBJECTIVE: This study aims to evaluate the long-term efficacy and factors related to the success rate of CPC in the treatment of hydranencephaly and maximal hydrocephalus. METHOD: Forty-two children with maximal hydrocephalus and hydranencephaly underwent CPC from 2006 to 2014 and were retrospectively evaluated. Children with less than 3 months of follow-up were excluded. The long-term efficacy and success rate of possible variables (i.e., sex, type of malformation, type of surgery performed, treatment hospital, age, and HC at the time of surgery and birth) were evaluated. RESULTS: Thirty-four children were considered for the effectiveness analysis. Treatment was successful in 24 children (70.6%), and failure occurred in 10 children (29.4%). Failure was detected soon after the endoscopic procedure (average 116 days). There was no difference in effectiveness when comparing the age at the moment of surgery (p = 0.473), type of malformation (p = 1), HC at birth (0.699), and HC at the time of surgery (p = 0.648). The surgical death rate was 7.14%. CONCLUSION: Endoscopic CPC was a valid procedure used to treat hydranencephaly and maximal hydrocephaly, and it was effective in 70.6% of cases, with an average follow-up period of 32 months. When failures occurred, they occurred early. None of the analyzed variables interfered with the success of the treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170824
[Lr] Last revision date:170824
[St] Status:Publisher
[do] DOI:10.1007/s00381-017-3470-6


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