keyword
https://read.qxmd.com/read/38296890/genetic-blueprint-of-congenital-muscular-dystrophies-with-brain-malformations-in-egypt-a-report-of-11-families
#21
JOURNAL ARTICLE
Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzini
Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and motor developmental delay associated with brain malformations with or without eye anomalies in the most severe cases. In this study, we aimed to uncover the genetic basis of severe CMD in Egypt and to determine the efficacy of whole exome sequencing (WES)-based genetic diagnosis in this population. We recruited twelve individuals from eleven families with a clinical diagnosis of CMD with brain malformations that fell into two groups: seven patients with suspected dystroglycanopathy and five patients with suspected merosin-deficient CMD...
February 1, 2024: Neurogenetics
https://read.qxmd.com/read/38288202/vein-of-galen-aneurysmal-malformation-a-case-report-and-literature-review
#22
Khushi Bhattarai, Marmik Patel, Monica Garcia, Florentina Litra
The vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median pros encephalic vein of Markowski. Although most of the VGAM cases are diagnosed in the neonatal period, sometimes it can also present during early childhood. It is very crucial to intervene immediately following the diagnosis because if left untreated, morbidity and mortality are imminent. The most common causes of morbidity and mortality are high-output congestive heart failure (most common neonatal presentation), hydrocephalus (most common presentation in infants), headache, and seizures...
December 2023: Curēus
https://read.qxmd.com/read/38254245/missense-mutation-of-nras-is-associated-with-malignant-progression-in-neurocutaneous-melanosis
#23
JOURNAL ARTICLE
Haruhiko Takahashi, Manabu Natsumeda, Norikazu Hara, Akihide Koyama, Hiroshi Shimizu, Akinori Miyashita, Daiken Satake, Yoshihiro Mouri, Jun Tsukano, Keita Kawabe, Yoshihiro Tsukamoto, Masayasu Okada, Ryosuke Ogura, Akihiko Yuki, Hajime Umezu, Akiyoshi Kakita, Takeshi Ikeuchi, Makoto Oishi
Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by congenital melanocytic nevus of skin and abnormal proliferation of leptomeningeal melanocytes. Early acquisition of post-zygotic somatic mutations has been postulated to underlie the pathogenesis of NCM. The pathogenesis of NCM remains to be fully elucidated, and treatment options have not been established. Here, we report for the first time, multiregional genomic analyses in a 3-year-old autopsied girl with leptomeningeal melanomatosis associated with NCM, in which a ventriculo-peritoneal (VP) shunt was inserted for the treatment of hydrocephalus...
January 22, 2024: Acta Neuropathologica Communications
https://read.qxmd.com/read/38234714/bowel-perforation-and-anal-ventriculoperitoneal-shunt-migration-a-systematic-review
#24
REVIEW
Khelifa Adel, Aichaoui Fayçal, Bennafaa Toufik, Morsli Abdelhalim
BACKGROUND: One of the most feared complications of hydrocephalus is shunt migration. Although rare, bowel migration is the most commonly encountered type of migration. The relatively high frequency of this occurrence allowed us to gather a substantial number of reports for study. OBJECTIVES: The aim of this study was to better understand this complication and aid in decreasing its incidence. METHODS: The PubMed and Scopus databases were searched for cases of anal shunt migration...
April 2024: Journal of Taibah University Medical Sciences
https://read.qxmd.com/read/38219802/septostomy-and-monroplasty-in-isolated-lateral-ventricle-after-removal-of-a-iii-ventricle-colloid-cyst-2-dimensional-operative-video
#25
Francesco Tengattini, Andrea Messina, Marco Maria Fontanella, Ignazio Borghesi, Fabio Calbucci, Riccardo Draghi
Isolated unilateral hydrocephalus (IUH) is a condition caused by unilateral obstruction of the foramen of Monro 1 . Etiopathogenic causes include tumors, congenital lesions, infective ventriculitis, intraventricular haemorrhage and iatrogenic causes such as the presence of contralateral shunts. 2,3 Neuroendoscopic management is considered the "gold-standard" treatment in IUH.4 Even if endoscopic septostomy and foraminoplasty in IUH are well-known procedures 5,6 , IUH after an interhemispheric transcallosal transchoroidal approach for removal of a III ventricle colloid cyst is a complication barely described in literature...
January 12, 2024: World Neurosurgery
https://read.qxmd.com/read/38217730/navigating-the-complexities-of-encephalocraniocutaneous-lipomatosis-a-case-series-and-review
#26
JOURNAL ARTICLE
Marco Pavanello, Liliana Piro, Arianna Roggero, Andrea Rossi, Matteo Cataldi, Gianluca Piatelli
INTRODUCTION: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays. The spinal cord is frequently affected, leading to problems like medullary compression and radiculopathy, causing back pain and sensory/motor deficits...
January 13, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38197334/surgical-considerations-in-congenital-nontumorous-obstructive-hydrocephalus
#27
JOURNAL ARTICLE
D Muzumdar
No abstract text is available yet for this article.
January 4, 2024: Journal of Postgraduate Medicine
https://read.qxmd.com/read/38196410/dandy-walker-syndrome-delayed-acute-presentation-with-unusual-symptoms
#28
Fakhar Hayat, Mohamed Ismail, Muhanned M Alqhtani, Talal Almayman, Noor Sardar, Abdullah Ismaeel, Mohammed AlJohani, Rayan S Alruwaili
Dandy-Walker syndrome (DWS) is a rare congenital brain malformation defined by the presence of an expanded posterior fossa, full or partial absence of the cerebellar vermis, and a cystic expansion of the fourth ventricle. We report an 18-month-old girl with DWS presenting with atypical clinical manifestations and unusual symptoms. She initially presented with persistent vomiting and abdominal pain for four days, not responding to antiemetic medication. In addition, she was found to have abnormal postural arching of the back, extension of the lower limbs, and neck extension...
December 2023: Curēus
https://read.qxmd.com/read/38182822/lymphocytic-choriomeningitis-virus-injures-the-developing-brain-effects-and-mechanisms
#29
REVIEW
Daniel J Bonthius
Lymphocytic choriomeningitis virus (LCMV) is a prevalent pathogen, whose natural host and reservoir is the wild mouse. Humans can be infected when they contact the secretions of mice. Most infections of postnatal humans result in mild illness. However, the consequences can be severe when the infection occurs during pregnancy, as the virus crosses the placenta to infect the fetus. LCMV infection of the human fetus can lead to severe neuropathologic effects, including microencephaly, hydrocephalus, focal destructive lesions, and cerebellar hypoplasia...
January 5, 2024: Pediatric Research
https://read.qxmd.com/read/38178931/migration-of-the-distal-ventriculoperitoneal-shunt-catheter-into-the-stomach-with-or-without-trans-oral-extrusion-a-systematic-literature-review-and-meta-analysis
#30
JOURNAL ARTICLE
Rajendra Kumar Ghritlaharey
BACKGROUND: Intra-gastric migration of the distal ventriculoperitoneal shunt (VPS) catheter clinically presenting with or without trans-oral extrusion is one of the rare complications of VPS catheter insertion. AIM: To identify the demographics, clinical presentation, clinical findings, and results of surgical therapy offered for the treatment of intra-gastric migration of the distal VPS catheter, clinically presented with or without trans-oral extrusion. METHODS: An online search was performed for the extraction/retrieval of the published/ available literature pertaining to the above-mentioned VPS complication...
December 9, 2023: World Journal of Clinical Pediatrics
https://read.qxmd.com/read/38175980/successful-surgical-resection-of-an-ependymal-cyst-in-the-fourth-ventricle-of-a-dog
#31
JOURNAL ARTICLE
Isabel Liñan Grana, Alba Farré Mariné, Martí Pumarola I Batlle, Alejandro Luján Feliu-Pascual
Ependymal cysts represent congenital brain malformations rarely described in human medicine, where surgical resection is the treatment of choice. In veterinary medicine, only three cases have been previously reported, with one partially resected with surgery. A 6 yr old entire male American Staffordshire terrier was referred with a 4 mo history of incoordination and collapsing episodes with extensor rigidity. Neurological examination localized the lesion to the left central vestibular system and cerebellum...
January 1, 2024: Journal of the American Animal Hospital Association
https://read.qxmd.com/read/38173219/ccdc88c-variants-are-associated-with-focal-epilepsy-and-genotype-phenotype-correlation
#32
JOURNAL ARTICLE
Yu-Jie Chen, Wen-Jie Wang, Dong-Fang Zou, Jun-Xia Luo, Pei-Yan Jin, Liang Jin, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Yong-Jun Chen
CCDC88C gene, which encodes coiled-coil domain containing 88C, is essential for cell communication during neural development. Variants in the CCDC88C caused congenital hydrocephalus, some accompanied by seizures. In patients with epilepsy without acquired etiologies, we performed whole-exome sequencing (trio-based). Two de novo and two biallelic CCDC88C variants were identified in four cases with focal (partial) epilepsy. These variants did not present or had low frequencies in the gnomAD populations and were predicted to be damaging by multiple computational algorithms...
January 3, 2024: Clinical Genetics
https://read.qxmd.com/read/38157047/-various-factors-affecting-the-success-of-the-etv-procedure-in-infants-an-insight-via-a-prospective-study
#33
JOURNAL ARTICLE
Rajat Verma
BACKGROUND: Congenital hydrocephalus in infants treated with ETV has variable results in literature. We studied some supposed clinicoradiological parameters which though are considered vital in deciding operative management and have never been thoroughly studied to establish a well-defined association. AIM AND OBJECTIVE: To evaluate the influence of clinicoradiological profile and intraoperative findings over the outcome of ETV done in infants for congenital hydrocephalus...
December 29, 2023: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38153898/-clinical-protocol-audiological-assessment-of-infants-in-russian-federation-part-ii
#34
JOURNAL ARTICLE
G Sh Tufatulin, M R Lalayants, S A Artyushkin, S M Vikhnina, E S Garbaruk, V V Dvoryanchikov, I V Koroleva, M V Kreisman, E K Mefodovskaya, A V Pashkov, I V Savenko, E R Tsygankova, S S Chibisova, G A Tavartkiladze
This is the second part of the previously published clinical protocol of audiological assessment in infants. The goal of the protocol is unification approaches to audiological diagnosis of the infants. The following sections were included in the second part of the protocol: behavioral testing in infants, testing sequence, duration of the examination and necessity in follow-up, hearing assessment in special cases (premature children, children with congenital infections, after meningitis, with external ear abnormalities, single-sided deafness, with hydrocephalus and shunts, with auditory neuropathy spectrum disorder, with mild hearing loss and otitis media with effusion), medical report...
2023: Vestnik Otorinolaringologii
https://read.qxmd.com/read/38136601/identification-of-central-nervous-system-oncologic-disease-biomarkers-in-evs-from-cerebrospinal-fluid-csf-of-pediatric-patients-a-pilot-neuro-proteomic-study
#35
JOURNAL ARTICLE
Xhuliana Kajana, Sonia Spinelli, Andrea Garbarino, Ganna Balagura, Martina Bartolucci, Andrea Petretto, Marco Pavanello, Giovanni Candiano, Isabella Panfoli, Maurizio Bruschi
Cerebrospinal fluid (CSF) is a biochemical-clinical window into the brain. Unfortunately, its wide dynamic range, low protein concentration, and small sample quantity significantly limit the possibility of using it routinely. Extraventricular drainage (EVD) of CSF allows us to solve quantitative problems and to study the biological role of extracellular vesicles (EVs). In this study, we implemented bioinformatic analysis of our previous data of EVD of CSF and its EVs obtained from congenital hydrocephalus with the aim of identifying a comprehensive list of potential tumor and non-tumor biomarkers of central nervous system diseases...
November 30, 2023: Biomolecules
https://read.qxmd.com/read/38128548/a-novel-smarcc1-bafopathy-implicates-neural-progenitor-epigenetic-dysregulation-in-human-hydrocephalus
#36
JOURNAL ARTICLE
Amrita K Singh, Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma, Shujuan Zhao, Kedous Y Mekbib, John P Shohfi, Phan Q Duy, Tyrone DeSpenza, Charuta G Furey, Benjamin C Reeves, Hannah Smith, André M M Sousa, Adriana Cherskov, August Allocco, Carol Nelson-Williams, Shozeb Haider, Syed R A Rizvi, Seth L Alper, Nenad Sestan, Hermela Shimelis, Lauren K Walsh, Richard P Lifton, Andres Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz, Kristopher T Kahle
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated SMARCC1, a component of the BRG1-associated factor (BAF) chromatin remodeling complex, as a candidate congenital hydrocephalus (CH) gene. However, SMARCC1 variants have not been systematically examined in a large patient cohort or conclusively linked with a human syndrome. Moreover, CH-associated SMARCC1 variants have not been functionally validated or mechanistically studied in vivo...
December 21, 2023: Brain
https://read.qxmd.com/read/38116905/genetic-etiologies-and-diagnostic-methods-for-congenital-ventriculomegaly-and-hydrocephalus-a-scoping-review
#37
REVIEW
Caroline Aragón, D'aviyan Robinson, Megan Kocher, Katie Barrick, Lihsia Chen, Heather Zierhut
BACKGROUND: Congenital hydrocephalus (CH) is a life-threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often unsuccessful, leading to high mortality rates. Causes of CH can range from secondary insults to germline pathogenic variants, complicating diagnostic processes and treatment outcomes...
January 2024: Birth Defects Research
https://read.qxmd.com/read/38116348/closed-loop-bowel-obstruction-induced-by-ventriculoperitoneal-shunt-catheter-coiling-at-the-sigmoid-colon-a-case-report
#38
Rinad M AlJoaid, Hawra H Alshakhori, Arwaa Haji, Dunya Alfaraj, Murad F Alabbad
Intestinal obstruction is a rarely encountered complication in patients with ventriculoperitoneal (VP) shunt. The most common causes of bowel obstruction in this subset of patients include volvulus, formation of a spontaneous knot, and adhesions. Herein, we report a 21-year-old bedridden male with a history of congenital hydrocephalus on VP shunt, spina bifida, neurogenic bladder, and paraplegia who presented with a seven-day history of abdominal discomfort, distention, constipation, vomiting, and intolerance to oral intake...
November 2023: Curēus
https://read.qxmd.com/read/38113564/dandy-walker-malformation-associated-with-subarachnoid-hemorrhage-a-case-report
#39
Razan S Samman, Mohamed K Gomaa, Bassem Y Sheikh
INTRODUCTION: Dandy-Walker malformation is a rare congenital brain defect characterized by vermian agenesia with cystic dilatation of the fourth ventricle, and posterior fossa enlargement. The etiology is still poorly understood but is presupposed to be multifactorial, infrequently caused by intracranial hemorrhage. We describe a case of male newborn known to have Dandy-Walker malformation associated with subarachnoid bleeding after the delivery, which is a quiet rare presentation only discussed in a few literatures before...
January 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38111744/addressing-hydrocephalus-in-africa-challenges-and-way-forward
#40
JOURNAL ARTICLE
Burhan Kantawala, Maha Khattab, Shaima O Elawad, Mohamad Assker, Batoul Cherri, Abubakar Nazir, Magda Wojtara, Olivier Uwishema
Hydrocephalus occurs when the cerebrospinal fluid (CSF) accumulates in the cerebral ventricles. This is due to either obstruction in the CSF flow, decreasing its absorption by the arachnoid villus to the Dural venous sinuses, or increasing production of the CSF. The most disproportionately and severely affected by the disease consequences are African children. This is because of the high incidence of postinfectious hydrocephalus and spinal dysraphism compared with other world children. The health care system in Africa has access to 488 neurosurgeons which represents less than 1% of the global neurosurgeons, thus pediatric hydrocephalus is considered an emerging public health problem in Africa because of the difficulty of the patient's access to proper care...
December 2023: Health Science Reports
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