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https://www.readbyqxmd.com/read/28728258/-follow-up-and-genetic-study-of-43-chinese-children-with-type-%C3%A2-alexander-disease
#1
T T Ban, Y Wu, Z B Zhang, L L Zang, J M Wang, Y W Jiang
Objective: To identify the clinical and genetic characteristics in 43 Chinese children diagnosed with type Ⅰ Alexander disease (AxD). Method: Forty-three type Ⅰ AxD cases identified by glial fibrillary acidic protein (GFAP) gene mutations in Peking University First Hospital from 2005 to 2016 were followed up. The data of medical history, physical examination and magnetic resonance imaging (MRI) were collected. All these patients were followed up in December 2010, Febury 2012, June 2014 and January 2016, respectively...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28727891/prenatal-diagnosis-of-sotos-syndrome-characterized-by-fetal-growth-restriction
#2
Yi Zhang, Shaobing Lin, Qun Fang
Sotos syndrome (OMIM#117550) is a overgrowth syndrome caused by mutations of the NSD1 gene.(1) The clinical manifestations include macrocephaly, tall stature, cardiac anomalies, and behavioral problems.(2,3) Affected individuals also have an increased risk of neoplasms. This article is protected by copyright. All rights reserved.
July 20, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28724436/expanding-the-phenotype-of-reciprocal-1q21-1-deletions-and-duplications-a-case-series
#3
Martina Busè, Helenia C Cuttaia, Daniela Palazzo, Marcella V Mazara, Salvatrice A Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione
BACKGROUND: Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder. METHODS: Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21...
July 19, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28692759/sperm-morphology-assessment-pathophysiology-clinical-relevance-and-state-of-the-art-in-2017
#4
REVIEW
N Gatimel, J Moreau, J Parinaud, R D Léandri
For over 30 years, sperm morphology assessment has been one of the most common tests in evaluation of fertility. This review examines the clinical relevance of sperm morphology assessment in the diagnosis of infertility and in assisted reproductive technology, as well as its analytical reliability. Publications on the pathophysiology, the analytical reliability of the test and its clinical relevance in diagnosis and in Assisted Reproductive Technology (ART) were evaluated. This review compared and discussed study methodologies and results, including patient characteristics, preparation, smear staining methods and classification systems...
July 10, 2017: Andrology
https://www.readbyqxmd.com/read/28688840/impact-of-clinical-exomes-in-neurodevelopmental-and-neurometabolic-disorders
#5
Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lilian Kaufmann, Christine Fischer, Christian Thiel, Thomas Opladen, Urania Kotzaeridou, Stefan Wiemann, Matthias Schlesner, Roland Eils, Stefan Kölker, Claus R Bartram, Georg F Hoffmann, Ute Moog
Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabolic disorders, and dystonias. Pathogenic or likely pathogenic variants leading to a molecular diagnosis could be identified in 21 of the 60 families (overall 35%, in 36% of patients with NDD, in 43% of patients with neurometabolic disorders, in 25% of patients with dystonias)...
June 30, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28687526/first-de-novo-ank3-nonsense-mutation-in-a-boy-with-intellectual-disability-speech-impairment-and-autistic-features
#6
Katja Kloth, Jonas Denecke, Maja Hempel, Jessika Johannsen, Tim M Strom, Christian Kubisch, Davor Lessel
Ankyrin-G, encoded by ANK3, plays an important role in neurodevelopment and neuronal function. There are multiple isoforms of Ankyrin-G resulting in differential tissue expression and function. Heterozygous missense mutations in ANK3 have been associated with autism spectrum disorder. Further, in three siblings a homozygous frameshift mutation affecting only the longest isoform and a patient with a balanced translocation disrupting all isoforms were documented. The latter four patients were affected by a variable degree of intellectual disability, attention deficit hyperactivity disorder and autism...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28687466/cerebrospinal-fluid-volume-does-not-have-etiological-role-in-the-incidence-of-positional-skull-deformities
#7
Guillaume Captier, Adrien Galeron, Gérard Subsol, Melissa Solinhac, Thomas Roujeau, Nicolas Leboucq, Christian Herlin
BACKGROUND: Positional skull deformities (PSD) are becoming a daily health concern for craniofacial surgeons. Several reports have indicated that cerebrospinal fluid (CSF) space increases on computed tomography (CT) scans of infants suffering from PSD, suggesting a potential causal link. Here, we describe a semi-automatic method to estimate total brain and CSF volumes quantitatively. We tested the potential correlation between total CSF volume and the occurrence of PSD. METHODS: A single-center retrospective study was carried out using 79 CT scans of PSD and 60 CT scans of control subjects...
June 13, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28658095/a-clinical-review-on-megalencephaly-a-large-brain-as-a-possible-sign-of-cerebral-impairment
#8
REVIEW
Piero Pavone, Andrea Domenico Praticò, Renata Rizzo, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Raffaele Falsaperla
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28653564/blake-s-pouch-cyst-in-children-atypical-clinical-presentation
#9
Martina Bontognali, Andrea Poretti, Raphael Guzman, Thierry Agm Huisman, Gian Paolo Ramelli
Blake's pouch cyst is a posterior fossa cystic malformation characterized by a infracerebellar cyst, absence of communication between the fourth ventricle and the subarachnoid space, and tetraventricular hydrocephalus. Children with Blake's pouch cyst typically present with macrocephaly due to hydrocephalus during the neonatal period or infancy. Atypical presentation is, however, possible. Here we present clinical and neuroimaging findings, as well as management and outcome, of an 18-month-old girl with atypical presentation of Blake's pouch cyst characterized by cerebellar ataxia...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28593598/brief-report-macrocephaly-phenotype-and-psychiatric-comorbidity-in-a-clinical-sample-of-mexican-children-and-adolescents-with-autism-spectrum-disorders
#10
Lilia Albores-Gallo, Laura Fritsche-García, Arturo Pabel Miranda-Aguirre, Montserrat Avila-Acosta
Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association between the presence of macrocephaly and subtype of ASD. The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29...
June 7, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28592837/maternally-derived-15q11-2-q13-1-duplication-and-h19-dmr-hypomethylation-in-a-patient-with-silver-russell-syndrome
#11
Sumito Dateki, Masayo Kagami, Keiko Matsubara, Kei Izumi, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Maki Fukami, Hiroyuki Moriuchi
Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS phenotype. We report the first SRS patient with hypomethylation of the H19-DMR and maternally derived 15q11...
June 8, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28588848/a-case-of-megalencephalic-leukoencephalopathy-with-subcortical-cysts-type-1-was-identified-with-a-novel-compound-heterozygous-alteration-c-135delc-c-423-2dupt-in-china
#12
Cong-Ling Dai, Wen-Bin He, Juan Du, Yue-Qiu Tan, Guang-Xiu Lu, Wen Li
We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing analysis for the c.423+2dupT variant revealed skipping of exon 5.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28588452/structure-function-analysis-of-the-glyr-%C3%AE-2-subunit-autism-mutation-p-r323l-reveals-a-gain-of-function
#13
Yan Zhang, Thi Nhu Thao Ho, Robert J Harvey, Joseph W Lynch, Angelo Keramidas
Glycine receptors (GlyRs) containing the α2 subunit regulate cortical interneuron migration. Disruption of the GlyR α2 subunit gene (Glra2) in mice leads to disrupted dorsal cortical progenitor homeostasis, leading to a depletion of projection neurons and moderate microcephaly in newborn mice. In humans, rare variants in GLRA2, which is located on the X chromosome, are associated with autism spectrum disorder (ASD) in the hemizygous state in males. These include a microdeletion (GLRA2∆ex8-9) and missense mutations in GLRA2 (p...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28584646/a-novel-mutation-of-nfix-causes-sotos-like-syndrome-malan-syndrome-complicated-with-thoracic-aortic-aneurysm-and-dissection
#14
Tsukasa Oshima, Hironori Hara, Norifumi Takeda, Eriko Hasumi, Yukiko Kuroda, Go Taniguchi, Ryo Inuzuka, Kan Nawata, Hiroyuki Morita, Issei Komuro
Malan syndrome has recently been characterized to present Sotos-like phenotypes, such as intellectual disability and macrocephaly, with mutations in the NFIX gene. Herein, we report a 38-year-old patient with a novel single adenine insertion mutation in exon 2 of the NFIX gene (c.290_291insA). He developed early-onset thoracic aortic aneurysm and dissection, which was a rare complication but deserves particular attention in relatively long-lived patients with Sotos-like phenotypes.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28558378/pial-arteriovenous-fistula-and-capillary-malformation-arteriovenous-malformation-associated-with-rasa1-mutation-2-pediatric-cases-with-successful-surgical-management
#15
A Jessey Chugh, Asim Shahid, Sunil Manjila, Deepak Gulati, Nicholas C Bambakidis
We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body...
May 31, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28556953/novel-biallelic-szt2-mutations-in-three-cases-of-early-onset-epileptic-encephalopathy
#16
Naomi Tshuchida, Mitsuko Nakashima, Akihiko Miyauchi, Shinsaku Yoshitomi, Tomokazu Kimizu, Vigneswari Ganesan, Keng Wee Teik, Ch'ng Gaik-Siew, Mitsuhiro Kato, Takeshi Mizuguchi, Atsushi Takata, Satoko Miyatake, Noriko Miyake, Hitoshi Osaka, Takanori Yamagata, Nakajima Hideaki, Hirotomo Saitsu, Naomichi Matsumoto
The seizure threshold 2 (SZT2) gene encodes a large, highly-conserved protein that is associated with epileptogenesis. In mice, Szt2 is abundantly expressed in the central nervous system. Recently, biallelic SZT2 mutations were found in seven patients (from five families) presenting with epileptic encephalopathy with dysmorphic features and/or non-syndromic intellectual disabilities. In this study, we identified by whole-exome sequencing compound heterozygous SZT2 mutations in three patients with early-onset epileptic encephalopathies...
May 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28555308/radiologically-occult-medulloblastoma-with-hydrocephalus-case-report
#17
Hirokuni Honma, Hideki Ogiwara
INTRODUCTION: There have been no reports of occult medulloblastoma nor noncommunicating hydrocephalus due to radiologically occult brain tumors. Herein, we report radiologically occult medulloblastoma with noncommunicating hydrocephalus. CASE REPORT: A 3-year-old boy presented with macrocephaly, visual field constriction, and papilledema. Neuroimagings showed enlargement of the ventricles without any mass lesions. The CT cisternography did not show influx of the contrast into the ventricles, which suggested local cerebrospinal fluid (CSF) circulatory disturbance at the outlet of the fourth ventricle...
May 29, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#18
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28497491/male-child-with-somatic-mosaic-osteopathia-striata-with-cranial-sclerosis-caused-by-a-novel-pathogenic-amer1-frameshift-mutation
#19
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28471274/contrasting-phenotypes-in-resistance-to-thyroid-hormone-alpha-correlate-with-divergent-properties-of-thyroid-hormone-receptor-%C3%AE-1-mutant-proteins
#20
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka Offiah, John Barton, Susan Price, John Schwabe, Krishna Chatterjee
BACKGROUND: Resistance to thyroid hormone alpha (RTHα), a disorder characterized by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor alpha gene mutations, is rare but probably under-recognized. This study sought to correlate the clinical characteristics and response to thyroxine (T4) therapy in two adolescent RTHα patients with the properties of the THRA mutation, affecting both TRα1 and TRα2 proteins, they harbored. METHODS: Clinical, auxological, biochemical, and physiological parameters were assessed in each patient at baseline and after T4 therapy...
July 2017: Thyroid: Official Journal of the American Thyroid Association
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