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https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#1
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#2
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28602933/familial-epilepsy-with-anterior-polymicrogyria-as-a-presentation-of-col18a1-mutations
#3
Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renée Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz
Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made...
June 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28599099/clinical-and-molecular-genetic-characterization-of-two-siblings-with-trisomy-2p24-3-pter-and-monosomy-5p14-3-pter
#4
Daisuke Fukushi, Kenji Kurosawa, Yasuyo Suzuki, Kaoru Suzuki, Kenichiro Yamada, Seiji Watanabe, Kenji Yokochi, Nobuaki Wakamatsu
Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter caused by the paternal translocation t(2;5)(p24.3;p14.3). Of the two siblings, the elder sister had spina bifida...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28593008/meckel-gruber-syndrome-ultrasonographic-and-fetal-autopsy-correlation
#5
Shruti Khurana, Vikram Saini, Vibhor Wadhwa, Harveen Kaur
Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.
June 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/28579621/fetal-pathology-of-neural-tube-defects-an-overview-of-68-cases
#6
Katharina Schoner, Roland Axt-Fliedner, Rainer Bald, Barbara Fritz, Juergen Kohlhase, Thomas Kohl, Helga Rehder
INTRODUCTION: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%...
May 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28555310/antenatal-management-of-fetal-neurosurgical-diseases
#7
Sergio Cavalheiro, Marcos Devanir Silva da Costa, Jardel Nicacio Mendonça, Patricia Alesssandra Dastoli, Italo Capraro Suriano, Mauricio Mendes Barbosa, Antonio Fernandes Moron
The advance in the imaging tools during the pregnancy (ultrasound and magnetic resonance) allowed the early diagnose of many fetal diseases, including the neurological conditions. This progress brought the neurosurgeons the possibility to propose treatments even before birth. Myelomeningocele is the most recognized disease that can be treated during pregnancy with a high rate of success. Additionally, this field can be extended to other conditions such as hydrocephalus and encephaloceles. However, each one of these diseases has nuances in the diagnostic evaluation that should fit the requirements to perform the fetal procedure and overbalance the benefits to the patients...
May 29, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28553380/giant-occipital-meningoencephalocele-in-a-neonate-a-therapeutic-challenge
#8
Vikul Kumar, S Bhaikhel Kulwant, Suman Saurabh, S Chauhan Richa
Encephalocele is a rare lesion, being an embryological mesodermal anomaly which results in a defect in the cranium and dura, associated with herniation of meninges, cerebrospinal fluid, or brain tissues through a defect usually covered by scalp. Surgical management of children with giant occipital encephalocele requires careful attention to pediatric anesthetic and surgical principles. We present a case of a giant occipital encephalocele highlighting the problems encountered in its management.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28523088/treatment-of-a-large-traumatic-encephalocele-with-titanium-mesh
#9
Alan Motta do Canto, Manuela Monteiro Pinotti, Fernando Alves Maciel, Alexandre Bossi Todeschini, Guilherme Brasileiro Aguiar, Ronaldo Rodrigues de Freitas
Encephalocele is defined as protrusion of cranial contents beyond the normal confines of the skull. Although most encephalocele cases have a congenital etiology, fractures of the skull base can cause traumatic encephalocele. In most encephalocele cases, the bone defect presents reduced dimensions and the endoscopic treatment is generally performed to reconstruct the area using mucosal and/or fat grafts. This article sought to report on a rare case of traumatic encephalocele associated with an extensive defect of the anterior skull base...
June 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28499675/growth-and-psychological-development-in-postoperative-patients-with-anterior-encephaloceles
#10
Hemonta Kumar Dutta, Chow Wachana Khangkeo, Kaberi Baruah, Debasish Borbora
PURPOSE: Anterior encephaloceles are rare malformations that are frequently associated with other brain anomalies. This study evaluates the growth and psychological development of children following encephalocele repair. MATERIALS & METHODS: Growth and psychological assessment was done in 24 children with only encephalocele (group I); nine children with encephalocele and hydrocephalus (group II); seven children with encephalocele, hydrocephalus, and secondary malformations (group III); and 40 apparently healthy control subjects...
February 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28464249/prevalence-of-neural-tube-defects-and-the-impact-of-prenatal-diagnosis-in-three-districts-of-beijing-china
#11
Lei Jin, Lei Jin, Jingru Yu, Yanjun Xu, Hui Liu, Aiguo Ren
BACKGROUND: The objectives of this study were to explore the prevalence of neural tube defects (NTDs) in three districts of Beijing, and to evaluate the impact of prenatal diagnosis on the prevalence. METHODS: Data were collected between 2006 and 2012 from the Beijing Birth Defects Surveillance System. P13 and P28 represent the prevalence of NTDs diagnosed from 13 weeks and 28 weeks of gestation, respectively, to 7 days after delivery. Populations were classified as household (permanent) and non-household (non-permanent) because differences exist in access to health care, education, and income, among others...
May 2, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28452617/intradiploic-encephalocele-of-the-primary-motor-cortex-in-an-adult-patient-electrophysiological-implications-during-surgery
#12
Luca Valci, Martina Dalolio, Dominique Kuhlen, Emanuele Pravatà, Claudio Gobbi, Michael Reinert
Encephaloceles are herniations of brain parenchyma through congenital or acquired osseous-dural defects of the skull base or cranial vault. Different types of symptoms, due to CSF fistulas, meningitis, or seizures, are often associated with this condition. The authors present a rare case of spontaneous right frontal parasagittal encephalocele in a 70-year-old man who was experiencing a spastic progressive paresis of his left lower limb. Results of routine electrophysiological workup (motor evoked potentials, somatosensory evoked potentials, and electroneuromyography), as well as those of MRI of the spinal cord, were normal...
April 28, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28411498/a-pilot-study-on-the-association-between-rare-earth-elements-in-maternal-hair-and-the-risk-of-neural-tube-defects-in-north-china
#13
Wenhua Huo, Yibing Zhu, Zhenjiang Li, Yiming Pang, Bin Wang, Zhiwen Li
Rare earth elements (REEs) have many applications in industry, agriculture, and medicine, resulting in occupational and environmental exposure and concerns regarding REE-associated health effects. However, few epidemiological studies have examined the adverse effects of REEs on pregnancy outcomes. Therefore, this study examined the relationship between the REE concentrations in maternal hair growing during early pregnancy and the risk of neural tube defects (NTDs) in offspring. We included 191 women with NTD-affected pregnancies (cases) and 261 women delivering healthy infants (controls)...
April 12, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28398708/evidence-of-gene-gene-interactions-between-mthfd1-and-mthfr-in-relation-to-anterior-encephalocele-susceptibility-in-northeast-india
#14
Hemonta Kr Dutta, Debasish Borbora, Mauchumi Baruah, Kanwar Narain
BACKGROUND: Anterior encephalocele (AE) is a rare congenital anomaly of the central nervous system which is thought to be associated with genetic defects in folate metabolism. METHODS: This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population...
April 3, 2017: Birth defects research
https://www.readbyqxmd.com/read/28374938/diagnostic-use-of-computational-retrotransposon-detection-successful-definition-of-pathogenetic-mechanism-in-a-ciliopathy-phenotype
#15
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki
Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly, and multicystic renal disease. A medical exome analysis detected a heterozygous frameshift mutation, c...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28371402/mortality-in-joubert-syndrome
#16
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, Ian A Glass, Hannah M Tully, Dan Doherty
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and improve the lives of patients with JS. We evaluated information on 40 deceased individuals with JS to characterize age and cause of death. We compared this population with 525 living individuals with JS to estimate associations between risk of death and extra-neurological features...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28349571/idiopathic-intracranial-hypertension-contemporary-review-and-implications-for-the-otolaryngologist
#17
Shawn M Stevens, Habib G Rizk, Karl Golnik, Norberto Andaluz, Ravi N Samy, Ted A Meyer, Paul R Lambert
OBJECTIVES: 1) Review controversies pertaining to the pathophysiology, diagnosis, and treatment of idiopathic intracranial hypertension. 2) Discuss the evolving role of otolaryngologists in managing this disease and related disorders. DATA SOURCES: Primary literature review, Centers for Disease Control and Prevention website, International Classification of Headache Disorders, Second Edition. METHODS: A comprehensive review of the primary literature was performed from 1990 to 2016 utilizing keywords idiopathic intracranial hypertension, pseudotumor cerebri, benign intracranial hypertension, spontaneous cerebrospinal fluid leak, and encephalocele...
March 27, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28348808/meningitis-due-to-moraxella-nonliquefaciens-in-a-paediatric-patient-a-case-report-and-review-of-the-literature
#18
Carol Kao, Wendy Szymczak, Iona Munjal
Introduction.Moraxella nonliquefaciens is an unusual organism to be isolated from cerebral spinal fluid (CSF) and there exists only one case report of M. nonliquefaciens meningitis from a neonate. Moraxella species normally exist as part of the human upper respiratory tract flora and rarely cause invasive human disease. There are only a handful of case reports implicating the organism as a cause of endocarditis, bacteraemia, septic arthritis and endophthalmitis. Identification to the species level based on routine laboratory techniques has been challenging, with final identification often made through 16S rRNA sequencing...
February 2017: JMM Case Reports
https://www.readbyqxmd.com/read/28344182/repair-of-frontoethmoidal-encephalocele-in-the-philippines-an-account-of-30-cases-between-2008-2013
#19
Amanda-Lynn Marshall, Pradeep Setty, Mark Hnatiuk, Daniel R Pieper
BACKGROUND: Frontoethmoidal encephalocele is a congenital abnormality of the anterior skull base involving herniation of cranial contents through a midline skull defect. Patency of the foramen cecum, along with other multifactorial variables, contribute to the development of frontoethmoidal encephaloceles. Due to limited resources, financial constraints, and lack of surgical expertise, repair of frontoethmoidal encephaloceles are limited in developing countries. METHODS: Between 2008-2013 an interdisciplinary team composed of neurosurgeons, craniofacial surgeons, otolaryngologists, plastic surgeons and nursing personnel, conducted surgical mission trips to Davao City in Mindanao, Philippines...
March 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28316901/symptomatic-parietal-intradiploic-encephalocele-a-case-report-and-literature-review
#20
Chen Shi, Bruno Flores, Stephen Fisher, Samuel L Barnett
Encephalocele is a rare condition that consists of herniation of cerebral matter through openings of dura and skull. A majority of encephaloceles are congenital and manifest in childhood. We present a case of a 45-year-old man presenting with contralateral hemiparesis and found to have an extremely rare phenomenon of a symptomatic posttraumatic parietal intradiploic encephalocele (IE) manifesting 36 years following pediatric traumatic head injury. Computed tomography and magnetic resonance imaging confirmed herniation of brain tissue into the intradiploic space...
January 2017: Journal of Neurological Surgery Reports
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