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malformations cns

Juanjuan Zhao, Mathilda T M Mommersteeg
The Slit ligands and their Robo receptors are well-known for their roles during axon guidance in the central nervous system, but are still relatively unknown in the cardiac field. However, data from different animal models suggest a broad involvement of the pathway in many aspects of heart development, from cardiac cell migration and alignment, lumen formation, chamber formation, to the formation of the ventricular septum, semilunar and atrioventricular valves, caval veins and pericardium. Absence of one or more of the genes in the pathway results in defects ranging from bicuspid aortic valves to ventricular septal defects and abnormal venous connections to the heart...
March 10, 2018: Cardiovascular Research
D Diaz-Aguilar, T Niu, S Terterov, R Scharnweber, A Tucker, J Woodard, H Brara, C Merna, H Shah, S Wang, S Rahman
Background: Neurenteric cysts (NECs) are rare developmental malformations of the central nervous system (CNS) which originate as benign congenital lesions. They originate from developmental foregut precursors, and are presumed to be the result of abnormal partitioning of the embryonic notochord plate. Such NECs predominantly arise in the cervical region in patients around 6 years of age or in their twenties or thirties. Notably, NECs of the conus medullaris are exceedingly rare, especially in patients of advanced age...
2018: Surgical Neurology International
Leticia Bignardi, Talita Prates, Andiara De Rossi, Paulo Nelson-Filho, Fabrício Kitasono de Carvalho, Talitha de Siqueira Mellara, Alexandra Mussolino de Queiroz
Myelomeningocele (MMC) is a congenital malformation that occurs in the embryonic period, characterized by failure in closure of the caudal portion of the neural tube during central nervous system formation. Alterations and complications can be associated with this condition, such as hydrocephalus, neurogenic bladder, orthopedic problems, and motor and cognitive impairment. This patients with MMC also have predisposition to develop latex allergy and high caries risk and activity due to deficient oral hygiene, fermentable carbon hydrate-rich diet and prolonged use of sugar-containing oral medications...
March 7, 2018: Special Care in Dentistry
Thatjana Gardeitchik, Jeroen Wyckmans, Eva Morava
Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease...
April 2018: Pediatric Clinics of North America
Kazuyoshi Itoh, Yoshihiro Akimoto, Shu Kondo, Tomomi Ichimiya, Kazuhiro Aoki, Michael Tiemeyer, Shoko Nishihara
T antigen (Galβ1-3GalNAcα1-Ser/Thr) is an evolutionary-conserved mucin-type core 1 glycan structure in animals synthesized by core 1 β1,3-galactosyltrasferase 1 (C1GalT1). Previous studies showed that T antigen produced by Drosophila C1GalT1 (dC1GalT1) was expressed in various tissues and dC1GalT1 loss in larvae led to various defects, including decreased number of circulating hemocytes, hyper-differentiation of hematopoietic stem cells in lymph glands, malformation of the central nervous system, mislocalization of neuromuscular junction (NMJ) boutons, and ultrastructural abnormalities in NMJs and muscle cells...
February 27, 2018: Developmental Biology
Usha D Nagaraj, Maria A Calvo-Garcia, Beth M Kline-Fath
OBJECTIVE: Screening the cavum septi pellucidi (CSP), more commonly referred to as the "cavum septum pellucidum," is a required component of the fetal anatomic survey during second-trimester ultrasound (US). The inability to identify the normal appearance of this structure warrants further evaluation because septal insufficiency is associated with multiple brain malformations. In this article, we discuss embryology, normal anatomy, and prenatal evaluation of the CSP as well as the differential diagnosis of associated abnormalities...
February 28, 2018: AJR. American Journal of Roentgenology
Houda Nasser Al Yaqoubi, Nishat Fatema
Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities...
February 2018: Oxford Medical Case Reports
Şule Özel, Sebnem Ozyer, Osman Aykut, Mehmet Çinar, Omer Hınc Yılmaz, Ali Caglar, Yaprak Engin-Ustun
PURPOSE: Neural tube defects (NTDs) are the most common malformations of the central nervous system (CNS). There is continuing research for the identification of risk factors and interventions for prevention of NTDs. The aim of this study was to investigate the maternal second trimester blood levels of selected heavy metals namely, arsenic (As), cadmium (Cd), mercury (Hg), manganese (Mn), nickel (Ni), and lead (Pb) and their possible relation with the occurrence of NTDs. METHODS: Twenty-one healthy second trimester pregnant women with fetuses affected with NTD (cases) were matched with 21 healthy pregnant women with unaffected fetuses (controls) with respect to age, body mass index (BMI), and gestational age...
February 22, 2018: Journal of Maternal-fetal & Neonatal Medicine
Andrzej Urbanik, Monika Cichocka, Justyna Kozub, Paulina Karcz, Izabela Herman-Sucharska
INTRODUCTION: The aim of this study is to determine the right1 H MRS spectra of the brain in fetuses of different age, and then to define what metabolic changes occur between 18th and 40th weeks of pregnancy. METHODS: 1 H MRS studies of 32 fetuses aged 18-40 gestational weeks were performed, in which the MRI excluded central nervous system malformations. The studied group included 11 fetuses aged 18-25 weeks (the second half of the second trimester), 14 fetuses aged 26-33 weeks (the first half of the third trimester), and seven fetuses aged 34-40 weeks (the second half of the third trimester)...
February 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
N Kotova, V Maichuk, O Fedorenko
Neural tube defects occupy second place in frequency after the defects of the cardiovascular system. The folate metabolism violation and hyperhomocysteinemia in women are proved to be the leading risk factors for the NTD of the fetus. Polymorphism of the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) is a genetic determinant of folate metabolism violation. Admission of folic acid in a standard dose of 0.4 mg and / or the use of fortified foods does not allow reaching the protective level of folic acid if there is a mutation of the MTHFR gene or when several risk factors combine, which requires a higher dose of folic acid...
January 2018: Georgian Medical News
I Swarup, P Derman, E Sheha, J Nguyen, J Blanco, R Widmann
Purpose: Previous studies have suggested an association between increased thoracic kyphosis and neural axis abnormalities in patients with adolescent idiopathic scoliosis (AIS). However, the basis for this finding is unclear, and this association has been mainly noted in retrospective studies on a non-consecutive series of patients. The purpose of this study was to assess the relationship between thoracic kyphosis and neural axis abnormalities in patients with AIS. Methods: We studied a consecutive series of AIS patients treated with spinal fusion...
February 1, 2018: Journal of Children's Orthopaedics
Sana Ben Slama, Leila Mebazaa, Dhouha Bacha, Saadia Bouraoui, Sabeh Mzabi-Regaya, Ahlem Lahmar
BACKGROUND: The fetoplacental examination is actually very important and sometimes necessary to confirm or correct prenatal diagnosis. AIM: to deduce a list of indications of fetoplacental examination and to determine the type and frequency of malformations found. METHODS: a retrospective study including 398 consecutive fetoplacental examinations, including abortions, stillbirths and children died perinatally. The cases were referred in the department of pathology of the M...
March 2017: La Tunisie Médicale
Tej D Azad, Anand Veeravagu, Amy Li, Michael Zhang, Venkatesh Madhugiri, Gary K Steinberg
BACKGROUND: Intramedullary spinal cord cavernous malformations (CMs) account for 5% of all CMs in the central nervous system and 5% to 12% of all spinal cord vascular lesions, yet their optimal management is controversial. OBJECTIVE: To identify factors associated with the clinical progression of spinal cord CMs and quantify the range of surgical outcomes. METHODS: Retrospective observational cohort study of 32 patients who underwent open surgical resection for spinal CMs, the majority of which presented to a dorsal or lateral pial surface, from 1996 to 2017 at a single institution...
February 6, 2018: Neurosurgery
Mirac Yildirim, Deniz Cagdas Ayvaz, Bahadir Konuskan, Rahsan Gocmen, Ilhan Tezcan, Meral Topcu, Haluk Topaloglu, Banu Anlar
The nervous system may be affected in primary immune deficiency (PID) syndromes through infectious, autoimmune, neoplastic mechanisms, or as a primary feature of the syndrome. However certain neurologic problems do not conform to these etiopathogenetic groups. We retrospectively examined PID patients seen in neurology consultation between 2014 and 2017 in order to determine the spectrum of nervous system involvement. Among patients with confirmed neurologic problems (n = 35), common manifestations were encephalopathy and global developmental/cognitive delay...
January 1, 2018: Journal of Child Neurology
Ilyas Eli, Nicholas T Gamboa, Evan J Joyce, Min S Park, Philipp Taussky, Richard H Schmidt, William T Couldwell, Jamie McDonald, Kevin J Whitehead, M Yashar S Kalani
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that causes angiodysplasia and results in mucocutaneous telangiectasias and arteriovenous malformations of organs. Although central nervous system vascular malformations can occur anywhere along the neuraxis, spinal vascular malformations are rare. We present our experience with the presentation and management of spinal vascular malformations in patients with HHT. Of the more than 800 patients with the diagnosis of HHT screened at our institution from 1995 through 2017, four patients with spinal vascular malformations (age range 1 month-77 years; 2 male, 2 female) were identified, three of whom came to clinical attention after significant neurological deterioration from previously unknown malformations...
February 2, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Junwon Lee, Sang-Hwi Choi, Dongjin R Lee, Dae-Sung Kim, Dong-Wook Kim
The objective of this study was to induce the production of isthmic organizer (IsO)-like cells capable of secreting fibroblast growth factor (FGF) 8 and WNT1 from human embryonic stem cells (ESCs). The precise modulation of canonical Wnt signaling was achieved in the presence of the small molecule CHIR99021 (0.6 μM) during the neural induction of human ESCs, resulting in the differentiation of these cells into IsO-like cells having a midbrain-hindbrain border (MHB) fate in a manner that recapitulated their developmental course in vivo...
January 31, 2018: Molecules and Cells
Jiang Lihua, Gao Feng, Mao Shanshan, Xu Jialu, Jiang Kewen
RATIONALE: Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). PATIENT CONCERNS: A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasms, mental retardation, skull dysplasia, ocular abnormalities, congenital atrial septal defect, and LMs...
November 2017: Medicine (Baltimore)
Atsushi Sudo, Motoi Kanagawa, Mai Kondo, Chiyomi Ito, Kazuhiro Kobayashi, Mitsuharu Endo, Yasuhiro Minami, Atsu Aiba, Tatsushi Toda
Congenital muscular dystrophies (CMDs) are characterized by progressive weakness and degeneration of skeletal muscle. In several forms of CMD, abnormal glycosylation of α-dystroglycan (α-DG) results in conditions collectively known as dystroglycanopathies, which are associated with central nervous system involvement. We recently demonstrated that fukutin, the gene responsible for Fukuyama congenital muscular dystrophy, encodes the ribitol-phosphate transferase essential for dystroglycan function. Brain pathology in patients with dystroglycanopathy typically includes cobblestone lissencephaly, mental retardation, and refractory epilepsy; however, some patients exhibit average intelligence, with few or almost no structural defects...
January 19, 2018: Human Molecular Genetics
Magdalena Sanz Cortes, Ana Maria Rivera, Mayel Yepez, Carolina V Guimaraes, Israel Diaz Yunes, Alexander Zarutskie, Ivan Davila, Anil Shetty, Arun Mahadev, Saray Maria Serrano, Nicolas Castillo, Wesley Lee, Gregory Valentine, Michael Belfort, Guido Parra, Carrie Mohila, Kjersti Aagaard, Miguel Parra
BACKGROUND: Congenital Zika virus (ZIKV) infection can be detected in both the presence and absence of microcephaly, and manifests as a number of signs and symptoms detected clinically and by neuroimaging. However, to date, qualitative and quantitative measures for the purpose of diagnosis and prognosis are limited. OBJECTIVES: Main objectives of this study conducted on fetuses and infants with confirmed congenital ZIKV infection and detected brain abnormalities are: 1) To assess the prevalence of microcephaly and the frequency of the anomalies including a detailed description based on ultrasound and magnetic resonance imaging (MRI) in fetuses and ultrasound, MRI and computed tomography imaging postnatally; 2) To provide quantitative measures of fetal and infant brain findings by MRI using volumetric analyses and diffusion weighted imaging (DWI); 3) To obtain additional information from placental and fetal histopathological assessments and postnatal clinical evaluations...
January 15, 2018: American Journal of Obstetrics and Gynecology
Mohammadali M Shoja, Chad J Jensen, Rebecca Ramdhan, Joshua Chern, W Jerry Oakes, R Shane Tubbs
Although pathology of the hindbrain and its derivatives can have life altering effects on a patient, a comprehensive review on its embryology is difficult to find in the peer-reviewed medical literature. Therefore, this review paper, using standard search engines, seemed timely. The embryology of the hindbrain is complex and relies on a unique timing of various neurovascular and bony elements. Derailment of these developmental processes can lead to a wide range of malformations such as the Chiari malformations...
January 18, 2018: Clinical Anatomy
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