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https://www.readbyqxmd.com/read/29768199/the-autism-related-protein-chd8-cooperates-with-c-ebp%C3%AE-to-regulate-adipogenesis
#1
Yasuyuki Kita, Yuta Katayama, Taichi Shiraishi, Takeru Oka, Tetsuya Sato, Mikita Suyama, Yasuyuki Ohkawa, Keishi Miyata, Yuichi Oike, Michiko Shirane, Masaaki Nishiyama, Keiichi I Nakayama
The gene encoding the chromatin remodeler CHD8 is the most frequently mutated gene in individuals with autism spectrum disorder (ASD). Heterozygous mutations in CHD8 give rise to ASD that is often accompanied by macrocephaly, gastrointestinal complaints, and slender habitus. Whereas most phenotypes of CHD8 haploinsufficiency likely result from delayed neurodevelopment, the mechanism underlying slender habitus has remained unknown. Here, we show that CHD8 interacts with CCAAT/enhancer-binding protein β (C/EBPβ) and promotes its transactivation activity during adipocyte differentiation...
May 15, 2018: Cell Reports
https://www.readbyqxmd.com/read/29760779/a-boy-with-developmental-delay-and-mosaic-supernumerary-inv-dup-5-p15-33p15-1-leading-to-distal-5p-tetrasomy-case-report-and-review-of-the-literature
#2
Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova
Background: With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. Simple interstitial duplications leading to trisomies of parts of 5p are much more frequent and better described. Duplications encompassing 5p13.2 cause a defined syndrome with macrocephaly, distinct facial phenotype, heart defects, talipes equinovarus, feeding difficulties, respiratory distress and anomalies of the central nervous system, developmental delay and hypotonia...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29752200/distinctive-facies-macrocephaly-and-developmental-delay-are-signs-of-a-pten-mutation-in-childhood
#3
Kohji Kato, Seiji Mizuno, Mie Inaba, Shinobu Fukumura, Naoko Kurahashi, Koichi Maruyama, Daisuke Ieda, Kei Ohashi, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Shinji Saitoh
BACKGROUND: Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be elucidated. METHODS: PTEN mutations were investigated by multiplex targeted sequencing of genomic DNA from 33 children with increased head circumference (>+2 SD) and developmental delay...
May 8, 2018: Brain & Development
https://www.readbyqxmd.com/read/29749883/rapid-sequence-brain-magnetic-resonance-imaging-for-chiari-i-abnormality
#4
James Pan, Jennifer L Quon, Eli Johnson, Bryan Lanzman, Anjeza Chukus, Allen L Ho, Michael S B Edwards, Gerald A Grant, Kristen W Yeom
OBJECTIVE Fast magnetic resonance imaging (fsMRI) sequences are single-shot spin echo images with fast acquisition times that have replaced CT scans for many conditions. Introduced as a means of evaluating children with hydrocephalus and macrocephaly, these sequences reduce the need for anesthesia and can be more cost-effective, especially for children who require multiple surveillance scans. However, the role of fsMRI has yet to be investigated in evaluating the posterior fossa in patients with Chiari I abnormality (CM-I)...
May 11, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29745900/downregulation-of-ribosome-biogenesis-during-early-forebrain-development
#5
Kevin F Chau, Morgan L Shannon, Ryann M Fame, Erin Fonseca, Hillary Mullan, Matthew B Johnson, Anoop K Sendamarai, Mark W Springel, Benoit Laurent, Maria K Lehtinen
Forebrain precursor cells are dynamic during early brain development, yet the underlying molecular changes remain elusive. We observed major differences in transcriptional signatures of precursor cells from mouse forebrain at embryonic days E8.5 vs. E10.5 (before vs. after neural tube closure). Genes encoding protein biosynthetic machinery were strongly downregulated at E10.5. This was matched by decreases in ribosome biogenesis and protein synthesis, together with age-related changes in proteomic content of the adjacent fluids...
May 10, 2018: ELife
https://www.readbyqxmd.com/read/29737001/clinical-and-functional-characterization-of-two-novel-zbtb20-mutations-causing-primrose-syndrome
#6
Emilia Stellacci, Katharina Steindl, Pascal Joset, Laura Mercurio, Massimiliano Anselmi, Serena Cecchetti, Laura Gogoll, Markus Zweier, Annette Hackenberg, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Anita Rauch
Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transcriptional repressor controlling energetic metabolism and developmental programs. ZBTB20 maps in a genomic region that is deleted in the 3q13.31 microdeletion syndrome, which explains the clinical overlap between the two disorders...
May 7, 2018: Human Mutation
https://www.readbyqxmd.com/read/29725561/endoscopic-lavage-of-extensive-chronic-subdural-hematoma-in-an-infant-after-abusive-head-trauma-adaptation-of-a-technique-from-ventricular-neuroendoscopy
#7
Thomas Beez, Ann Kristin Schmitz, Hans-Jakob Steiger, Christopher Munoz-Bendix
Subdural fluid collections are frequently encountered in young children after non-accidental injury. In a subset of patients, these collections progress in size and ultimately require permanent drainage, which is commonly achieved with subdural-peritoneal shunts. However, excessive protein and cellular contents in the fluid are potential risk factors for shunt failure. Here, we describe the adaptation of an endoscopic lavage technique established for ventricular endoscopy with the aim of improving fluid condition prior to shunting...
March 2, 2018: Curēus
https://www.readbyqxmd.com/read/29720545/multifocal-demyelinating-motor-neuropathy-and-hamartoma-syndrome-associated-with-a-de-novo-pten-mutation
#8
Boglarka Bansagi, Vietxuan Phan, Mark R Baker, Julia O'Sullivan, Matthew J Jennings, Roger G Whittaker, Juliane S Müller, Jennifer Duff, Helen Griffin, James A L Miller, Grainne S Gorman, Hanns Lochmüller, Patrick F Chinnery, Andreas Roos, Laura E Swan, Rita Horvath
OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog ( PTEN ), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. METHODS: We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing...
May 2, 2018: Neurology
https://www.readbyqxmd.com/read/29698806/identification-of-two-14q32-deletions-involving-dicer1-associated-with-the-development-of-dicer1-related-tumors
#9
John C Herriges, Sara Brown, Maria Longhurst, Jillian Ozmore, John B Moeschler, Aura Janze, Jeanne Meck, Sarah T South, Erica F Andersen
DICER1 encodes an RNase III endonuclease protein that regulates the production of small non-coding RNAs. Germline mutations in DICER1 are associated with an autosomal dominant hereditary cancer predisposition syndrome that confers an increased risk for the development of several rare childhood and adult-onset tumors, the most frequent of which include pleuropulmonary blastoma, ovarian sex cord-stromal tumors, cystic nephroma, and thyroid gland neoplasia. The majority of reported germline DICER1 mutations are truncating sequence-level alterations, suggesting that a loss-of-function type mechanism drives tumor formation in DICER1 syndrome...
April 23, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29696782/mutations-in-szt2-result-in-early-onset-epileptic-encephalopathy-and-leukoencephalopathy
#10
Amy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, Jennifer Murphy, Guy Helman, Miriam Bloom, Sarah H Evans, John G Murnick, Joan Conry, Ryan J Taft, Cas Simons, Adeline Vanderver, Laura A Adang
Early-onset epileptic encephalopathies (EOEEs) are a genetically heterogeneous collection of severe epilepsies often associated with psychomotor regression. Mutations in SZT2, a known seizure threshold regulator gene, are a newly identified cause of EOEE. We present an individual with EOEE, macrocephaly, and developmental regression with compound heterozygous mutations in SZT2 as identified by whole exome sequencing. Serial imaging characterized the novel finding of progressive loss of central myelination. This case expands our clinical understanding of the SZT2-phenotype and emphasizes the role of this gene in the diagnostic investigation for EOEE and leukoencephalopathies...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29681085/two-novel-cases-expanding-the-phenotype-of-setd2-related-overgrowth-syndrome
#11
Maartje C van Rij, Iris H I M Hollink, Paulien Anna Terhal, Sarina G Kant, Claudia Ruivenkamp, Arie van Haeringen, J Anneke Kievit, Martine J van Belzen
The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5-year-old boy and a 23-year-old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who were both diagnosed with SETD2-related overgrowth syndrome due to de novo frameshift mutations in the SETD2 gene...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29681083/novel-de-novo-zbtb20-mutations-in-three-cases-with-primrose-syndrome-and-constant-corpus-callosum-anomalies
#12
Caroline Alby, Lucile Boutaud, Bettina Bessières, Valérie Serre, Marlene Rio, Valerie Cormier-Daire, Judith de Oliveira, Amale Ichkou, Linda Mouthon, Christopher T Gordon, Maryse Bonnière, Charlotte Mechler, Patrick Nitschke, Christine Bole, Stanislas Lyonnet, Nadia Bahi-Buisson, Nathalie Boddaert, Laurence Colleaux, Philippe Roth, Yves Ville, Michel Vekemans, Féréchté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas
Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and intellectual disability...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29663862/dynamics-and-structural-stability-effects-of-germline-pten-mutations-associated-with-cancer-versus-autism-phenotypes
#13
Iris Nira Smith, Stetson Thacker, Ritika Jaini, Charis Eng
Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and other cancers or autism spectrum disorder (ASD) with macrocephaly. It remains unclear why mutations in one gene can lead to seemingly disparate phenotypes. Thus, we sought to identify differences in ASD vs. cancer-associated germline PTEN missense mutations by investigating putative structural effects induced by each mutation...
April 17, 2018: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29619237/refining-the-clinical-phenotype-of-okur-chung-neurodevelopmental-syndrome
#14
Moe Akahira-Azuma, Yoshinori Tsurusaki, Yumi Enomoto, Jun Mitsui, Kenji Kurosawa
We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1 , c.593A>G, that is causative of Okur-Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. His dysmorphic features might suggest a congenital histone modification defect syndrome, such as Kleefstra, Coffin-Siris, or Rubinstein-Taybi syndromes, which are indicative of functional interactions between the casein kinase II, alpha 1 gene and histone modification factors...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29610615/surgical-management-of-facial-features-of-robinow-syndrome-a-case-report
#15
Aida M Mossaad, Moustapha A Abdelrahman, Mostafa A Ibrahim, Hatem H Al Ahmady
BACKGROUND: Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects. CASE PRESENTATION: A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement...
March 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29608813/identification-of-a-pten-mutation-with-reduced-protein-stability-phosphatase-activity-and-nuclear-localization-in-hong-kong-patients-with-autistic-features-neurodevelopmental-delays-and-macrocephaly
#16
Chi Wai Wong, Penelope Mei Yu Or, Yubing Wang, Lisha Li, Jing Li, Mingfei Yan, Ye Cao, Ho Ming Luk, Tony Ming For Tong, Nick R Leslie, Ivan Fai-Man Lo, Kwong Wai Choy, Andrew Man Lok Chan
PTEN is a tumor suppressor gene inactivated in over 30% of human cancers. It encodes a lipid phosphatase that serves as a gatekeeper of the phosphoinositide 3-kinase signaling pathway. Germline mutation frequently occurs in this gene in patients diagnosed with PTEN Hamartoma Tumor Syndrome (PHTS). PHTS individuals are characterized by macrocephaly, benign growth of multiple tissues and increased tumor risk. In addition, autistic phenotypes are found in 10-20% of individuals carrying the germline PTEN mutation with macrocephaly...
April 2, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29599822/novel-phenotype-of-5p13-3-q11-2-duplication-resulting-from-supernumerary-marker-chromosome-5-implications-for-management-and-genetic-counseling
#17
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29594054/a-case-report-of-syndromic-multinodular-goitre-in-adolescence-exploring-the-phenotype-overlap-between-cowden-and-dicer1-syndromes
#18
Dorothée Bouron-Dal Soglio, Leanne de Kock, Richard Gauci, Nelly Sabbaghian, Elizabeth Thomas, Helen C Atkinson, Nicholas Pachter, Simon Ryan, John P Walsh, M Priyanthi Kumarasinghe, Karen Carpenter, Ayça Aydoğan, Colin J R Stewart, William D Foulkes, Catherine S Choong
Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome. Material and Methods: A 17-year-old female presented with a 3-month history of progressive right neck swelling. Fine needle cytology of the thyroid revealed a follicular neoplasm with features suggestive of follicular variant of papillary thyroid carcinoma and she underwent a hemithyroidectomy...
January 2018: European Thyroid Journal
https://www.readbyqxmd.com/read/29573842/a-case-of-severe-alexander-disease-with-de-novo-c-239-t-c-p-f80s-in-gfap
#19
Ayumi Matsumoto, Janyerkye Tulyeu, Rieko Furukawa, Chika Watanabe, Yukifumi Monden, Yasuyuki Nozaki, Masato Mori, Michito Namekawa, Eriko F Jimbo, Toshinori Aihara, Takanori Yamagata, Hitoshi Osaka
Alexander disease (AxD) is a progressive neurodegenerative disease caused by a mutation in the glial fibrillary acid protein (GFAP) gene. A 4-year-old boy presented several times with hemiclonic seizures with eye deviation for a few minutes at 28 days after birth. Electroencephalogram showed independent sharp waves in the right and left temporal area. Magnetic resonance imaging showed high intensity T1-weighted images in the white matter of the frontal lobe and basal ganglia. He showed no head control at 4 years of age, and his weight gain was insufficient...
March 21, 2018: Brain & Development
https://www.readbyqxmd.com/read/29565146/stunting-wasting-and-mid-upper-arm-circumference-status-among-children-admitted-to-nemazee-teaching-hospital
#20
Seyed Mohsen Dehghani, Hazhir Javaherizadeh, Masoomeh Heidary, Naser Honar, Maryam Ataollahi, Homa Ilkanipour, Hossein Moravej
INTRODUCTION AND AIM: The aim of this study was to evaluate nutritional status in children without prior hospital admission or evidence of chronic disease. SUBJECTS AND METHODS: The current study is a cross-sectional and observational study which was conducted for assessing the nutritional status of children. In this study, consecutive sampling was used, with a sample size about 400 children aged 6 months to 18 years at first hospital admission. All subjects were hospitalized consecutively in the Pediatric Emergency Department of the Nemazee Teaching Hospital of Shiraz University of Medical Sciences (Shiraz, Islamic Republic of Iran)...
January 10, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
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