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congenital hydrocephalus

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https://www.readbyqxmd.com/read/29346650/persistence-of-zika-virus-after-birth-clinical-virological-neuroimaging-and-neuropathological-documentation-in-a-5-month-infant-with-congenital-zika-syndrome
#1
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
January 13, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29341397/bi-allelic-mutations-of-ccdc88c-are-a-rare-cause-of-severe-congenital-hydrocephalus
#2
Gaia Ruggeri, Andrew E Timms, Chi Cheng, Avery Weiss, Peter Kollros, Teresa Chapman, Hannah Tully, Ghayda M Mirzaa
Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29317443/a-mutation-in-ccdc39-causes-neonatal-hydrocephalus-with-abnormal-motile-cilia-development-in-mice
#3
Zakia Abdelhamed, Shawn M Vuong, Lauren Hill, Crystal Shula, Andrew Timms, David Beier, Kenneth Campbell, Francesco T Mangano, Rolf W Stottmann, June Goto
Pediatric hydrocephalus is characterized by an abnormal accumulation of cerebrospinal fluid (CSF) and is one of the most common congenital brain abnormalities. However, little is known about the molecular and cellular mechanisms regulating CSF flow in the developing brain. Through whole-genome sequencing analysis, we report that a homozygous splice site mutation in coiled-coil domain containing 39 (Ccdc39) is responsible for early postnatal hydrocephalus in the progressive hydrocephalus (prh) mouse mutant. Ccdc39 is selectively expressed in embryonic choroid plexus and ependymal cells on the medial wall of the forebrain ventricle, and the protein is localized to the axoneme of motile cilia...
January 9, 2018: Development
https://www.readbyqxmd.com/read/29302380/a-case-of-fatal-pulmonary-hypoplasia-with-congenital-diaphragmatic-hernia-thoracic-myelomeningocele-and-thoracic-dysplasia
#4
Ai Ito, Hideshi Fujinaga, Sachiko Matsui, Kumiko Tago, Yuka Iwasaki, Shuhei Fujino, Junko Nagasawa, Shoichiro Amari, Masao Kaneshige, Yuka Wada, Shigehiro Takahashi, Keiko Tsukamoto, Osamu Miyazaki, Takako Yoshioka, Akira Ishiguro, Yushi Ito
Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29298325/conditional-ablation-of-the-rfx4-isoform-1-transcription-factor-allele-dosage-effects-on-brain-phenotype
#5
Ping Xu, James P Morrison, Julie F Foley, Deborah J Stumpo, Toni Ward, Darryl C Zeldin, Perry J Blackshear
Regulatory factor X4 (RFX4) isoform 1 is a recently discovered isoform of the winged helix transcription factor RFX4, which can bind to X-box consensus sequences that are enriched in the promoters of cilia-related genes. Early insertional mutagenesis studies in mice first identified this isoform, and demonstrated that it was crucial for mouse brain development. RFX4 isoform 1 is the only RFX4 isoform significantly expressed in the mouse fetal and adult brain. In this study, we evaluated conditional knock-out (KO) mice in which one or two floxed alleles of Rfx4 were deleted early in development through the use of a Sox2-Cre transgene...
2018: PloS One
https://www.readbyqxmd.com/read/29284887/difficult-airway-in-a-case-of-gross-hydrocephalus-for-shunt-surgery
#6
Raghavendra Vagyannavar, Vandna Bharti, Mohammad Hashim
Children with gross hydrocephalus for emergency ventriculoperitoneal (VP) shunt present challenges to anesthesiologist due to increase in circumference of head, associated congenital anomalies. Here is a case report of child with gross hydrocephalus with Type 2 Arnold chiari malformation posted for emergency VP shunt placement possessed a difficult airway.
October 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29282147/spina-bifida-cystica-and-severe-congenital-bilateral-talipes-equinovarus-in-one-twin-of-a-monoamniotic-pair-a-case-report
#7
Benjamin Momo Kadia, Desmond Aroke, Frank-Leonel Tianyi, Ndemazie Nkafu Bechem, Christian Akem Dimala
BACKGROUND: Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare. CASE PRESENTATION: A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care...
December 28, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29232005/x-linked-vacterl-h-caused-by-deletion-of-exon-3-in-fancb-a-case-report
#8
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
VACTERL is a congenital malformation characterized by vertebral defects (V), anal atresia (A), cardiac malformation (C), tracheoesophageal fistula (T), esophageal atresia (E), radial or renal dysplasia (R), and limb abnormalities (L) (McCauley et al. 2011). An association of VACTERL with ventriculomegaly or clinical hydrocephalus, known as VACTERL-H, was reported to have poor prognosis. Here, we report a case of VACTERL-H with an X-linked family history and a deleted exon 3 in FANCB.
December 12, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29229361/a-literature-review-on-maternal-fetal-and-reproductive-disorders-of-toxoplasma-gondii-infection
#9
REVIEW
Shirzad Fallahi, Ali Rostami, Malihe Nourollahpour Shiadeh, Hamed Behniafar, Shahrokh Paktinat
BACKGROUND: Toxoplasma gondii infection is one of the most prevalent infectious disease with worldwide distribution. Congenital toxoplasmosis is annually responsible for 1.20 million disability-adjusted life years around the world, but often it is overlooked many countries. METHODS: We performed an updated review to summarize the current researches on fetal, neonatal and maternal consequences of T. gondii infection and also adverse effects of toxoplasmosis on women reproductive organs...
December 8, 2017: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/29225145/surprisingly-good-outcome-in-antenatal-diagnosis-of-severe-hydrocephalus-related-to-ccdc88c-deficiency
#10
Mathew Wallis, Alessandra Baumer, Wiam Smaili, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Erica Jacobson, Lucy Bowyer, David Mowat, Anita Rauch
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. This underlines a current limitation in our understanding of the genetic burden of non-syndromic congenital hydrocephalus, especially for those cases with likely autosomal recessive inheritance. Additionally, the prognosis for most cases of severe congenital hydrocephalus is poor, with most of the surviving infants displaying significant intellectual impairment despite surgical intervention...
December 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29211682/the-natural-history-of-subependymal-giant-cell-astrocytomas-in-tuberous-sclerosis-complex-a-review
#11
Denise L Chan, Tessa Calder, John A Lawson, David Mowat, Sean E Kennedy
Tuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA...
December 6, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29209884/congenital-obstruction-of-foramen-of-monro-report-of-10-patients-and-literature-review
#12
Shima Shahjouei, Zohreh Habibi, Soheil Naderi, Ramin Mahmoodi, Farideh Nejat
INTRODUCTION: A wide spectrum of etiologies can obstruct foramen of Monro (FOM) and result in hydrocephalus. Congenital occlusion of FOM is a rare entity which may present either in childhood or in adulthood. METHODS: Between 2007 and 2016, we screened all pediatric patients with hydrocephalus of either one or both lateral ventricles. Congenital occlusion of FOM was confirmed in the absence of masses occupying the FOM, prenatal or postnatal central nervous system (CNS) infections, intraventricular hemorrhage, previous cerebral intervention, or associated CNS anomalies affecting the flow of cerebrospinal fluid (CSF)...
December 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29204201/health-related-quality-of-life-in-children-with-congenital-hydrocephalus-and-the-parental-concern-an-analysis-in-a-developing-nation
#13
Monika Bawa, Jegadeesh Sundaram, Vedarth Dash, Nitin James Peters, K L N Rao
Purpose: To analyze quality of life of children operated for congenital hydrocephalus and the concern of parents in taking care of these children. Methods: Thirty patients who underwent ventriculo-peritoneal shunt were randomly selected with minimum gap of 1 year between surgery and study. Canadian validated questionnaire was used. Overall health score (OHS) and parental concern score (PCS) were correlated with gender, family type and number of surgeries. Results: Mean OHS was 159...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29202729/changes-in-prevalence-and-perinatal-outcomes-of-congenital-hydrocephalus-among-chinese-newborns-a-retrospective-analysis-based-on-the-hospital-based-birth-defects-surveillance-system
#14
Ling Yi, Chaomin Wan, Changfei Deng, Xiaohong Li, Kui Deng, Yi Mu, Jun Zhu, Qi Li, Yanping Wang, Li Dai
BACKGROUND: Little is known about the epidemiology of congenital hydrocephalus (CH) in China. This study aimed to depict recent changes in CH prevalence and perinatal outcomes of the affected newborns. METHODS: Data were obtained from the Chinese Birth Defects Monitoring Network (CBDMN), which collects demographic information on all newborns above 28 weeks of gestation, and clinical information on neonates with congenital anomalies. CH cases delivered during 2005-2012 were analyzed...
December 4, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29193904/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-fibroblast-and-peripheral-blood-cells-observed-in-a-fanconi-anemia-patient-leads-to-milder-phenotype
#15
Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA...
November 30, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29187032/postmortem-diagnostic-exome-sequencing-identifies-a-de-novo-tubb3-alteration-in-a-newborn-with-prenatally-diagnosed-hydrocephalus-and-suspected-walker-warburg-syndrome
#16
Zöe Powis, Adam C Chamberlin, Christina L Alamillo, Sophia Ceulemans, Lynne M Bird, Sha Tang
Objective Herein, we report a case of a deceased newborn with prenatally detected hydrocephalus. Postnatal findings included abnormal brain imaging and electroencephalogram, optic nerve abnormalities, and elevated creatine kinase (CK). No underlying genetic etiology had been previously identified for the proband, despite testing with a congenital muscular dystrophy gene panel. Methods Diagnostic exome sequencing (DES) was performed on the proband-parents trio, and candidate alterations were confirmed using automated fluorescence dideoxy sequencing...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29170629/dusp16-deficiency-causes-congenital-obstructive-hydrocephalus-and-brain-overgrowth-by-expansion-of-the-neural-progenitor-pool
#17
Ksenija Zega, Vukasin M Jovanovic, Zagorka Vitic, Magdalena Niedzielska, Laura Knaapi, Marin M Jukic, Juha Partanen, Roland F Friedel, Roland Lang, Claude Brodski
Hydrocephalus can occur in children alone or in combination with other neurodevelopmental disorders that are often associated with brain overgrowth. Despite the severity of these disorders, the molecular and cellular mechanisms underlying these pathologies and their comorbidity are poorly understood. Here, we studied the consequences of genetically inactivating in mice dual-specificity phosphatase 16 (Dusp16), which is known to negatively regulate mitogen-activated protein kinases (MAPKs) and which has never previously been implicated in brain development and disorders...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29169929/compound-heterozygous-ryr1-mutations-in-a-preterm-with-arthrogryposis-multiplex-congenita-and-prenatal-cns-bleeding
#18
Florian Brackmann, Matthias Türk, Nils Gratzki, Oliver Rompel, Heinz Jungbluth, Rolf Schröder, Regina Trollmann
RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have been reported in association with certain RYR1 mutations. Here we report a preterm infant born at 32 weeks gestation with arthrogryposis multiplex congenita due to compound heterozygous, previously MHS-associated RYR1 mutations, with additional signs of prenatal hemorrhage...
September 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29167994/congenital-zika-virus-infection-a-neuropathological-review
#19
L Chimelli, E Avvad-Portari
BACKGROUND: A relationship between Zika virus (ZikV) infection in pregnancy and the occurrence of microcephaly was established during the Zika outbreak in Brazil (2015-2016). Neuropathological findings in congenital Zika syndrome helped to understand its pathogenetic mechanisms. RESULTS: The most relevant postmortem findings in the central nervous system (CNS) of fetuses and neonates infected with ZikV early in gestation are microcephaly with ex-vacuo ventriculomegaly and large head circumference associated with obstructive hydrocephalus due to severe midbrain and aqueduct distortion...
January 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29166295/nursing-care-of-infants-with-a-ventriculoperitoneal-shunt
#20
Rachel A Joseph, Michaela R Killian, Emily E Brady
BACKGROUND: Infants with congenital or posthemorrhagic hydrocephalus may require a ventriculoperitoneal (VP) shunt to divert the flow of cerebrospinal fluid, thus preventing increase in intracranial pressure. Knowledge on various aspects of caring for a child with a VP shunt will enable new and experienced nurses to better care for these infants and equip parents for ongoing care at home. PURPOSE: To review the nurses' role in care of infants with hydrocephalus, care after VP shunt placement, prevention of complications, and parental preparation for home care...
November 20, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
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