keyword
MENU ▼
Read by QxMD icon Read
search

Hypotonia

keyword
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#2
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29149770/a-multicenter-retrospective-medical-record-review-of-x-linked-myotubular-myopathy-the-recensus-study
#3
Alan H Beggs, Barry J Byrne, Sabine de Chastonay, Tmirah Haselkorn, Imelda Hughes, Emma S James, Nancy L Kuntz, Jennifer Simon, Lindsay C Swanson, Michele L Yang, Zi-Fan Yu, Sabrina W Yum, Suyash Prasad
INTRODUCTION: X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few. METHODS: RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016. RESULTS: Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients...
November 17, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29142768/a-rare-double-aneuploidy-case-down-klinefelter
#4
Sevcan Tug Bozdogan, Atil Bisgin
Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#5
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29141652/congenital-myopathies-clinical-phenotypes-and-new-diagnostic-tools
#6
REVIEW
Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M Santorelli
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis...
November 15, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#7
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#8
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138588/rai1-gene-mutations-mechanisms-of-smith-magenis-syndrome
#9
REVIEW
Mariateresa Falco, Sonia Amabile, Fabio Acquaviva
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by mutations in RAI1 itself. About 10% of all the SMS patients, in fact, carry an RAI1 mutation responsible for the phenotype. RAI1 (OMIM *607642) is a dosage-sensitive gene expressed in many tissues and highly conserved among species...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29132975/a-novel-temporal-pattern-of-childhood-cerebral-x-linked-adrenoleukodystrophy
#10
Emanuela C Turco, Francesca Ormitti, Anna Andreolli, Marina Barsacchi, Carlotta Facini, Francesco Pisani
We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep. Behavioural impairment has been observed since the previous five months. Magnetic Resonance Images (MRI) revealed isolated bilateral, symmetric, confluent temporal white matter lesions involving also corticospinal tracts, with sparing of the parieto-occipital and frontal white matter. This report outlines an atypical neuroradiological localization of X-linked adrenoleukodystrophy and neuropsychological findings not specifically related to the brain involvement seen at the MRI...
November 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/29130632/dock3-related-neurodevelopmental-syndrome-biallelic-intragenic-deletion-of-dock3-in-a-boy-with-developmental-delay-and-hypotonia
#11
Aiko Iwata-Otsubo, Alyssa L Ritter, Brooke Weckselbatt, Nicole R Ryan, David Burgess, Laura K Conlin, Kosuke Izumi
Dedicator of cytokinesis (DOCK) family are evolutionary conserved guanine nucleotide exchange factors (GEFs) for the Rho GTPases, Rac, and Cdc42. DOCK3 functions as a GEF for Rac1, and plays an important role in promoting neurite and axonal growth by stimulating actin dynamics and microtubule assembly pathways in the central nervous system. Here we report a boy with developmental delay, hypotonia, and ataxia due to biallelic DOCK3 deletion. Chromosomal single nucleotide polymorphism (SNP) microarray analysis detected a 170 kb homozygous deletion including exons 6-12 of the DOCK3 gene at 3p21...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130599/interstitial-microdeletion-of-17q11-2-is-associated-with-hypotonia-fatigue-intellectual-disability-and-a-subtle-facial-phenotype-in-three-unrelated-patients
#12
Deborah Osio, Julia Rankin, Hannele Koillinen, Adele Reynolds, Hilde Van Esch
Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many novel disease-causing recurrent microdeletion and microduplication syndromes. Here we present three unrelated patients (2F; 1M) from three different countries, with developmental delay, intellectual disability, hypotonia, fatigue, and highly similar dysmorphic facial features. Shared facial features are a broad and wide forehead, similar shape of the eyes with long palpebral fissures, a bulbous tip of the nose and thick lips...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29129703/identification-of-novel-mitochondrial-localization-signals-in-human-tafazzin-the-cause-of-the-inherited-cardiomyopathic-disorder-barth-syndrome
#13
Ana A Dinca, Wei-Ming Chien, Michael T Chin
Mutations in the gene tafazzin (TAZ) result in Barth syndrome (BTHS). Patients present with hypotonia, cyclic neutropenia, 3-methyglutaconic aciduria, and cardiomyopathy, which is the major cause of mortality. The recessive, X-linked TAZ gene encodes a mitochondrial membrane-associated phospholipid modifying enzyme, which adds unsaturated fatty acid species to monolysocardiolipin to generate mature cardiolipin in the mitochondrial membrane that is essential for mitochondrial morphology and function. To identify intrinsic mitochondrial localization sequences in the human TAZ protein, we made sequential TAZ peptide-eGFP fusion protein expression constructs and analyzed the localization of eGFP fluorescence by confocal microscopy...
November 10, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29119349/southern-california-neuroinvasive-west-nile-virus-case-series
#14
Chirag B Patel, Bhavesh V Trikamji, Glenn E Mathisen, Shrikant K Mishra
Approximately 80% of individuals infected with West Nile virus (WNV) are asymptomatic, and less than 1% suffer from neuroinvasion that can result in permanent neurological deficits or mortality. Our institution's location in southern California predisposes it to a sizable case volume of neuroinvasive WNV. A 2-year retrospective study was performed at the Olive View-UCLA Medical Center to identify patients with confirmed WNV infection with neuroinvasion. Patient demographics, neurological exam findings, and laboratory diagnostics were reviewed...
November 8, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29119105/a-rare-variant-in-pgap2-causes-autosomal-recessive-hyperphosphatasia-with-mental-retardation-syndrome-with-a-mild-phenotype-in-heterozygous-carriers
#15
Yonatan Perez, Ohad Wormser, Yair Sadaka, Ruth Birk, Ginat Narkis, Ohad S Birk
Mutations in genes involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor cause autosomal recessive glycosylation defects, with a wide phenotypic spectrum of intellectual disability, seizures, minor facial dysmorphism, hypotonia, and elevated serum alkaline phosphatase. We now describe consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase. Genome-wide linkage analysis identified 6 possible disease-associated loci...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29116736/initial-clinical-experience-with-ahmed-valve-implantation-in-refractory-pediatric-glaucoma
#16
Katia Novak-Lauš, Jelena Škunca Herman, Marija Šimić Prskalo, Darija Jurišić, Zdravko Mandić
The purpose is to report on the safety and efficacy of Ahmed Glaucoma Valve (AGV, New World Medical, Inc., Rancho Cucamonga, CA, USA) implantation for the management of refractory pediatric glaucoma observed during one-year follow up period. A retrospective chart review was conducted on 10 eyes, all younger than 11 years, with pediatric glaucoma that underwent AGV implantation for medicamentously uncontrolled intraocular pressure (IOP) between 2010 and 2014. Outcome measures were control of IOP below 23 mm Hg (with or without antiglaucoma medications) and changes in visual acuity...
December 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29106825/recurrent-de-novo-mutations-disturbing-the-gtp-gdp-binding-pocket-of-rab11b-cause-intellectual-disability-and-a-distinctive-brain-phenotype
#17
Ideke J C Lamers, Margot R F Reijnders, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B A de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J F Letteboer, Sylvia E C van Beersum, Simone Dusseljee, Han G Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman
The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change induced by GTP-binding, allowing interactions with downstream effectors. Here, we report five individuals with two recurrent de novo missense mutations in RAB11B; c.64G>A; p.Val22Met in three individuals and c.202G>A; p.Ala68Thr in two individuals. An overlapping neurodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals...
October 23, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29100095/mutations-in-gpaa1-encoding-a-gpi-transamidase-complex-protein-cause-developmental-delay-epilepsy-cerebellar-atrophy-and-osteopenia
#18
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St-Denis, Guoliang Chai, Norbert F Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry-Kravis, Fan Xia, Jessica Tardif, David A Parry, Clare V Logan, Christine Diggle, Christopher P Bennett, Louise Hattingh, Jill A Rosenfeld, Michael Scott Perry, Michael J Parker, Françoise Le Deist, Maha S Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J Carroll, Colin A Johnson, Joseph G Gleeson, Taroh Kinoshita, Philippe M Campeau
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, and PIGU (phosphatidylinositol-glycan biosynthesis classes K, S, T, and U, respectively)...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29097605/pura-syndrome-clinical-delineation-and-genotype-phenotype-study-in-32-individuals-with-review-of-published-literature
#19
Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The Ddd Study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. OBJECTIVES: To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. METHODS: Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs...
November 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29096607/hypotonia-and-intellectual-disability-without-dysmorphic-features-in-a-patient-with-pign-related-disease
#20
Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A Brodsky, Carol Saunders
BACKGROUND: Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes including multiple congenital anomalies, dysmorphic faces, developmental delay, hypotonia, and epilepsy. Biallelic variants in PIGN, encoding phosphatidylinositol-glycan biosynthesis class N have been recently associated with multiple congenital anomalies hypotonia seizure syndrome...
November 2, 2017: BMC Medical Genetics
keyword
keyword
79574
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"