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[PMID]: 29442321
[Au] Autor:Abe K; Kawanishi T; Takeda H
[Ad] Address:Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan. kabe@bs.s.u-tokyo.ac.jp.
[Ti] Title:Zic Genes in Teleosts: Their Roles in Dorsoventral Patterning in the Somite.
[So] Source:Adv Exp Med Biol;1046:141-156, 2018.
[Is] ISSN:0065-2598
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The medaka contains seven zic genes, two of which, zic1 and zic4, have been studied extensively. The analyses are mainly based on the double anal fin (Da) mutant, which was isolated from the wild. Da is an enhancer mutant of zic1/zic4, and the expression of zic1/zic4 is specifically lost in the dorsal half of the somites, which leads to a mirror-image duplication of the ventral half across the lateral midline from larva to adult. The studies of medaka Da give us important insights into the function of zic1/zic4 in mesodermal tissues and also the mechanism of dorsoventral patterning in the vertebrate trunk region occurring during late development, which is a long-standing mystery in developmental biology. In this chapter, we introduce genomic organization of medaka zic genes and discuss their function, mainly focusing on zic1 and zic4 in dorsoventral patterning of the trunk region and possible connections to human congenital disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[St] Status:In-Data-Review
[do] DOI:10.1007/978-981-10-7311-3_8

  2 / 2200 MEDLINE  
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[PMID]: 29170734
[Au] Autor:Sahmat A; Gunasekaran R; Mohd-Zin SW; Balachandran L; Thong MK; Engkasan JP; Ganesan D; Omar Z; Azizi AB; Ahmad-Annuar A; Abdul-Aziz NM
[Ad] Address:Faculty of Medicine, Department of Parasitology, University of Malaya, Kuala Lumpur, Malaysia.
[Ti] Title:The Prevalence and Distribution of Spina Bifida in a Single Major Referral Center in Malaysia.
[So] Source:Front Pediatr;5:237, 2017.
[Is] ISSN:2296-2360
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Background: The aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients' ambulation and education level (where available). Methods: Data from the Department of Patient Information University of Malaya Medical Centre (UMMC), Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida). Data involved patients referred to UMMC between 2003 and 2016 and/or born in UMMC within that particular time frame. We filtered and extracted the information according to the data of clinical examination, medical review, and social history provided in the medical records. Results: A total of 86 patient records with spina bifida were analyzed. Spina bifida prevalence rate in this study ranged from 1.87 to 8.9 per 1,000 live births depending on weightage. We note that ethnicity was a factor whereby the highest numbers of spina bifida were from Malays ( = 36, 41.86%), followed by equal numbers of Chinese and Indians ( = 24, 27.91%). The highest number of diagnoses reported was myelomeningocele type-spina bifida ( = 39, 45.35%). The most common site of the spina bifida lesion was located at the lumbar region irrespective of aperta or occulta types ( = 23, 26.74%). Data on other associated phenotypes of spina bifida such as hydrocephalus and encephalocele was also captured at 37.21% ( = 32) and 1.16% ( = 1), respectively. In terms of mobility, 32.84% ( = 22/67) of patients between the ages 4 and 16 years old were found to be mobile. As many as 36.07% of patients ranging from 5 to 16 years of age ( = 22/61) received formal education ranging from preschool to secondary school. Conclusion: The prevalence of spina bifida in UMMC is as according to international statistics which is in the range of 0.5-10 per 1,000 live births. Majority of the reported cases were males, Malays, full term babies, and of the myelomeningocele phenotype located at the lumbar region.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171126
[Lr] Last revision date:171126
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.3389/fped.2017.00237

  3 / 2200 MEDLINE  
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[PMID]: 28969239
[Au] Autor:Mehta DV
[Ad] Address:Professor, Department of Radiodiagnosis, Pramukhswami Medical College and Shree Krishna Hospital, Gokal Nagar, Karamsad, Anand, Gujarat, India.
[Ti] Title:Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences.
[So] Source:J Clin Diagn Res;11(8):TC17-TC22, 2017 Aug.
[Is] ISSN:2249-782X
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Spinal dysraphism occurs due to failure of fusion of parts along dorsal aspect of midline structures lying along spinal axis from skin to vertebrae and spinal cord. Congenital spinal anomalies may be minimal and asymptomatic like spinal bifida occulta, or severe with marked neurological deficits like Arnold-Chiari malformation or caudal regression syndrome. Magnetic Resonance Imaging (MRI) is the modality of choice to diagnose mild to severe spinal dysraphism. AIM: To diagnose type and extent of clinically suspected spinal anomalies by MRI scan and to compare various sequences for identifying neural tissue and fatty tissue in anomalies. MATERIALS AND METHODS: Fifty paediatric patients referred with clinical suspicion of spinal anomalies for MRI scan to radiodiagnosis department and diagnosed as having spinal dysraphism on 1.5 Tesla MRI Scan, were included in this observational analytic study. Various MRI sequences were taken in multiple planes. MRI findings of spinal dysraphism were compared with detailed clinical examination or surgical findings. Osseous anomalies like spina bifida occulta were confirmed by radiographs or CT scan. RESULTS: Out of 50 patients, type II Arnold-Chiari Malformation (34%), Spina Bifida Occulta (22%) and Diastematomyelia (18%) were common anomalies. MRI findings were well correlated with surgical findings in 20 operated cases. Nerve roots with/ without neural placode in thecal sac/outpouching were detected in combination of 3D HASTE myelographic sequence with SE/ TSE T1W sequence in 24 cases; which was significantly high as compared to combinations of SE/TSE T1W sequence with TSE T2W, with STIR and with Single Shot Myelographic sequence {p-value 0.002, < 0.001 and 0.008 respectively}. Fatty component was present in dysraphism in five cases, commonly as isolated anomaly; which was detected by combination of STIR and SE/TSE T1W sequences in all five cases. CONCLUSION: Paediatric spinal dysraphism and associated malformations are accurately diagnosed on MRI scan. MR myelographic 3D-HASTE and STIR sequences should be a part of protocol to evaluate spinal dysraphism.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171006
[Lr] Last revision date:171006
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.7860/JCDR/2017/30134.10393

  4 / 2200 MEDLINE  
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[PMID]: 28937467
[Au] Autor:Urrutia J; Zamora T; Cuellar J
[Ad] Address:Department of Orthopaedic Surgery, School of Medicine, Pontificia Universidad Catolica de Chile, Marcoleta, Santiago, Chile.
[Ti] Title:Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults?
[So] Source:Clin Spine Surg;30(8):E1117-E1121, 2017 Oct.
[Is] ISSN:2380-0194
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:STUDY DESIGN: Cross-sectional study. OBJECTIVE: To compare the prevalence of lumbar spondylolysis and spina bifida occulta (SBO) in pediatric and adult populations. SUMMARY OF BACKGROUND DATA: The prevalence of spondylolysis reported from radiograph-based studies in children had been questioned in computed tomography (CT)-based studies in adults; however, a recent CT-based study in pediatric patients has confirmed the previously reported data in pediatric populations. SBO, which has been associated with spondylolysis, has demonstrated a decreasing prevalence with increasing age during childhood and adolescence. No studies have compared the prevalence of spondylolysis and SBO in pediatric and adult patients using CT as a screening method. METHODS: We studied 228 pediatric patients (4-15 y old) and 235 adults (30-45 y old) who underwent abdominal and pelvic CT scans for reasons not related to the spine. The entire lumbosacral spine was evaluated to detect the presence of spondylolysis and SBO. We compared the prevalence of spondylolysis and SBO in pediatric patients and adults. RESULTS: The prevalence of spondylolysis in pediatric patients was 3.5% (1.1%-5.9%), and in adults, it was 3.8% (1.7%-6.8%), P=1. The prevalence of SBO in pediatric subjects was 41.2% (34.8%-59.2%) and dropped to 7.7% (4.3%-11.5%) in adults, P<0.01. The male prevalence of SBO in pediatric patients was 51.4%, whereas it was 32.2% in females (P<0.01); this sex difference was not significant in the adult population (P=0.8). CONCLUSIONS: The prevalence of lumbar spondylolysis remained constant from pediatric age through adulthood. The prevalence of SBO decreased from 41.2% in children to 7.7% in adults; this finding suggests that closure of the vertebral arch may not be completed in early childhood in a large percentage of subjects.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170922
[Lr] Last revision date:170922
[St] Status:In-Process
[do] DOI:10.1097/BSD.0000000000000209

  5 / 2200 MEDLINE  
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[PMID]: 28712018
[Au] Autor:Li ALK; Marques R; Oliveira A; Veloso L; Girão MJBC; Lemos N
[Ad] Address:Department of Obstetrics & Gynecology, Functional Pelvic Surgery & Neuropelveology, University of Toronto, Toronto, ON, Canada.
[Ti] Title:Laparoscopic implantation of electrodes for bilateral neuromodulation of the pudendal nerves and S3 nerve roots for treating pelvic pain and voiding dysfunction.
[So] Source:Int Urogynecol J;, 2017 Jul 15.
[Is] ISSN:1433-3023
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION AND HYPOTHESIS: The objective of this video is to describe the technique for laparoscopic implantation of electrodes for bilateral neuromodulation of S3 and pudendal nerves. We report a successful case of a 48-year-old woman with spina bifida occulta referred with a 14-year history of intense acyclic pelvic pain, urinary hesitancy, and intermittent flow refractory to various conservative measures. METHODS: The procedure began with the removal of two previously placed InterStims. A quadripolar electrode was then laparoscopically inserted into Alcock's canal and attached to the pelvic pectineal line. Another lead was placed juxtaneurally to S3. Lead contacts were then exteriorized, and the peritoneum closed. The same procedure was then performed on the contralateral side. The leads were connected to a 16-pole rechargeable pulse generator. Postoperatively, the patient developed an acute dissection and partial thrombosis of the external iliac artery, which was treated endovascularly. RESULTS: Complete pain resolution was observed with simultaneous S3 and pudendal stimulation, with pudendal stimulation turned off for voiding. CONCLUSIONS: We conclude that laparoscopic implantation of neuromodulation electrodes allows simultaneous stimulation of S3 and pudendal nerves, providing more programming options and possibly increasing success rates in complex pelvic floor dysfunction cases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170716
[Lr] Last revision date:170716
[St] Status:Publisher
[do] DOI:10.1007/s00192-017-3411-7

  6 / 2200 MEDLINE  
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[PMID]: 28686331
[Au] Autor:Hart J; Miriyala K
[Ad] Address:Joan C Edwards School of Medicine, Marshall University, Huntington, West Virginia.
[Ti] Title:Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
[So] Source:Am J Med Genet A;173(9):2472-2477, 2017 Sep.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well-documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[St] Status:In-Process
[do] DOI:10.1002/ajmg.a.38325

  7 / 2200 MEDLINE  
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[PMID]: 28620735
[Au] Autor:Schmidt C; Bryant E; Iwanaga J; Oskouian RJ; Oakes WJ; Tubbs RS
[Ad] Address:Seattle Science Foundation, 550 17th Ave., James Tower, Suite 600, Seattle, WA, 98122, USA. cameronkurtschmidt@gmail.com.
[Ti] Title:Meningocele manqué: a comprehensive review of this enigmatic finding in occult spinal dysraphism.
[So] Source:Childs Nerv Syst;33(7):1065-1071, 2017 Jul.
[Is] ISSN:1433-0350
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:The term meningocele manqué (MM) was coined in 1972 to describe a broad range of surgical findings characterized by intradural bands tethering neural structures to the dorsal dura. Over the following decades, reports continued to lump intradural tethering bands associated with a variety of comorbidities under the umbrella term MM. In more recent years, disorders previously called MM have been identified as embryologically distinct and were reclassified. While this sectioning continues, there remains a set of intradural tethering disorders for which no better term than MM exists. Herein, we comprehensively review the literature surrounding MM, including embryological disorders, clinical, radiographic, and surgical presentation, as well as alternative classification methods and MM treatment.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1706
[Cu] Class update date: 170926
[Lr] Last revision date:170926
[St] Status:In-Process
[do] DOI:10.1007/s00381-017-3472-4

  8 / 2200 MEDLINE  
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[PMID]: 28593553
[Au] Autor:Sepulveda W; Wong AE; Sepulveda F; Alcalde JL; Devoto JC; Otayza F
[Ad] Address:FETALMED - Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Estoril 50, Suites 203 & 515, Las Condes, 7591047, Santiago, Chile. waldosepulveda@fetalmed.cl.
[Ti] Title:Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery.
[So] Source:Childs Nerv Syst;33(7):1083-1099, 2017 Jul.
[Is] ISSN:1433-0350
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign). In cases with positive findings, evaluation must include a focused examination of the spine for defects. In cases of closed SB and SB occulta, the cranial and posterior fossa features will not be present as they are not associated with leaking of spinal fluid and resultant hindbrain herniation, highlighting the fact that the spine should be examined thoroughly whenever possible during the second-trimester scan. In tertiary fetal medicine centers, two-dimensional and three-dimensional ultrasound allows an accurate determination of the location, type, extent, and upper level of the spinal defect as well as the presence of associated anomalies. Fetal magnetic resonance imaging should be restricted to candidates for intrauterine surgery as part of the preoperative protocol.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170926
[Lr] Last revision date:170926
[St] Status:In-Process
[do] DOI:10.1007/s00381-017-3445-7

  9 / 2200 MEDLINE  
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[PMID]: 28366522
[Au] Autor:Fernández-Ibieta M; Rojas Ticona J; Villamil V; Guirao Piñera MJ; López García A; Zambudio Carmona G
[Ad] Address:Urología Pediátrica, Servicio de Cirugía Pediátrica, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España. Electronic address: mfndezibieta@hotmail.com.
[Ti] Title:Rentabilidad diagnóstica de la resonancia magnética lumbosacra solicitada desde las consultas de urología pediátrica. Diagnostic yield of lumbosacral magnetic resonance imaging requested by paediatric urology consultations.
[So] Source:Actas Urol Esp;41(9):596-601, 2017 Nov.
[Is] ISSN:1699-7980
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Ab] Abstract:OBJECTIVES: In the historical series, the diagnostic yield of lumbosacral magnetic resonance imaging to rule out occult spinal dysraphism (or occult myelodysplasia), requested by paediatric urology, ranged from 2% to 15%. The aim of this study was to define our cost-effectiveness in children with urinary symptoms and to define endpoints that increase the possibility of finding occult spinal dysraphism. PATIENTS AND METHODS: A screening was conducted on patients with urinary dysfunction for whom an magnetic resonance imaging was requested by the paediatric urology clinic, for persistent symptoms after treatment, voiding dysfunction or other clinical or urodynamic findings. We analysed clinical (UTI, daytime leaks, enuresis, voiding dysfunction, urgency, renal ultrasonography, lumbosacral radiography, history of acute urine retention, skin stigma and myalgia) and urodynamic endpoints (hyperactivity or areflexia, voiding dysfunction, interrupted pattern, accommodation value and maximum flow). A univariate analysis was conducted with SPSS 20.0. RESULTS: We analysed 21 patients during the period 2011-2015. The median age was 6 years (3-10). Three patients (14.3%) had occult spinal dysraphism: one spinal lipoma, one filum lipomatosus and one caudal regression syndrome with channel stenosis. The endpoints with statistically significant differences were the myalgias and the history of acute urine retention (66.7% vs. 5.6%, P=.04; OR= 34; 95%CI: 1.5-781 for both endpoints). CONCLUSIONS: The diagnostic yield of magnetic resonance imaging requested for children with urinary dysfunctions without skin stigma or neuro-orthopaedic abnormalities is low, although nonnegligible. In this group, the patients with a history of acute urine retention and muscle pain (pain, «cramps¼) can experience a greater diagnostic yield or positive predictive value.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 171106
[Lr] Last revision date:171106
[St] Status:In-Process

  10 / 2200 MEDLINE  
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[PMID]: 28351437
[Au] Autor:Naafs JC; Sax K; van der Putten ME
[Ad] Address:Radboudumc, afd. Neonatologie, Nijmegen.
[Ti] Title:Een neonaat met een zwelling op de rug. [A neonate with a mass on the upper back].
[So] Source:Ned Tijdschr Geneeskd;161(0):D1126, 2017.
[Is] ISSN:1876-8784
[Cp] Country of publication:Netherlands
[La] Language:dut
[Ab] Abstract:Immediately after birth, a skin-covered mass with weak consistency was noted on the back of a full-term newborn boy. Ultrasound and MRI (performed to exclude spina bifida occulta) showed a multicystic venolymphatic malformation. Sclerotherapy or surgical excision are possible treatments. In asymptomatic patients, however, a watchful waiting approach is used.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1703
[Cu] Class update date: 170329
[Lr] Last revision date:170329
[St] Status:In-Process


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