keyword
MENU ▼
Read by QxMD icon Read
search

Hypotonia

keyword
https://www.readbyqxmd.com/read/29776967/multicentre-study-of-maternal-and-neonatal-outcomes-in-individuals-with-prader-willi-syndrome
#1
Preeti Singh, Ranim Mahmoud, June-Anne Gold, Jennifer L Miller, Elizabeth Roof, Roy Tamura, Elisabeth Dykens, Merlin G Butler, Dan J Driscoll, Virginia Kimonis
INTRODUCTION: Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect. Patients are typically diagnosed because of neonatal hypotonia, dysmorphism and feeding difficulties; however, data on the prenatal features of PWS are limited. OBJECTIVE: The aim of the study was to identify and compare frequencies of prenatal and neonatal clinical features of PWS among the three genetic subtypes...
May 18, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29769509/joubert-s-syndrome-a-report-of-two-cases
#2
M M Rahman, S M Rahman
Joubert's syndrome and related disorders are primarily disorder of cerebellar development. It has heterogeneity of presentation that varies from patient to patient. In the recent past we encountered a pair of children who presented with developmental delay, hypotonia and abnormal eye movements. Classic Joubert's syndrome was confirmed on the basis of clinical and neuro-imaging findings. So careful clinical assessment and appropriate neuro-imaging should be done in suspected cases for confirmation of diagnosis...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29763510/trihexyphenidyl-for-dystonia-in-cerebral-palsy
#3
REVIEW
Adrienne R Harvey, Louise B Baker, Dinah Susan Reddihough, Adam Scheinberg, Katrina Williams
BACKGROUND: Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. The involuntary contractions are often very painful and distressing and cause significant limitations to activity and participation...
May 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#4
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
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
#5
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/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#6
REVIEW
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29750627/the-need-of-interdisciplinary-approach-for-the-treatment-of-children-with-down-syndrome-with-severe-caries-unintentionally-facilitated-by-hypotonia-therapy
#7
Enrique Bimstein, Camilla Miskovich
This manuscript describes a case of a 4-year-old child with Down syndrome involving hypotonia in which the use of sweets to induce oral muscular function contributed to the need to extract all the primary teeth due to extensive caries. The need for interdisciplinary education and practice targeted to the treatment of children with special health care needs is emphasized.
May 11, 2018: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29749992/a-new-mutation-causing-severe-infantile-onset-pompe-disease-responsive-to-enzyme-replacement-therapy
#8
Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar
Pompe disease (PD), also known as "glycogen storage disease type II (OMIM # 232300)" is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase ( GAA ) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme...
March 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29740699/de-novo-mutations-in-med13-a-component-of-the-mediator-complex-are-associated-with-a-novel-neurodevelopmental-disorder
#9
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, Jeremy W Prokop, Krysta L Engel, J Nicholas Cochran, E Martina Bebin, Emilia K Bijlsma, Claudia A L Ruivenkamp, Paulien Terhal, Marleen E H Simon, Rosemarie Smith, Jane A Hurst, Heather McLaughlin, Richard Person, Amy Crunk, Michael F Wangler, Haley Streff, Joseph D Symonds, Sameer M Zuberi, Katherine S Elliott, Victoria R Sanders, Abigail Masunga, Robert J Hopkin, Holly A Dubbs, Xilma R Ortiz-Gonzalez, Rolph Pfundt, Han G Brunner, Simon E Fisher, Tjitske Kleefstra, Gregory M Cooper
Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders...
May 8, 2018: Human Genetics
https://www.readbyqxmd.com/read/29728193/2q24-deletion-in-a-9-month-old-girl-with-anal-atresia-hearing-impairment-and-hypotonia
#10
Peiwei Zhao, Bing Mao, Xiaonan Cai, Jun Jiang, Zhisheng Liu, Jun Lin, Xuelian He
Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental delay, intellectual disability, hypotonia, and mild dysmorphic features. Hearing impairment and anal atresia are rarely described. Here we described a 9-month-old female patient with hypotonia in all four limbs, developmental delay, and intellectual disability. In addition, congenital anal atresia was diagnosed and treated after birth, and hearing impairment was found in right ear...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29725177/involvement-of-the-spinal-cord-in-mitochondrial-disorders
#11
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis, diagnosis, and treatment of spinal cord affection in mitochondrial disorders (MIDs). A literature search using the database Pubmed was carried out by application of appropriate search terms and their combinations. Involvement of the spinal cord in MIDs is more frequent than anticipated. It occurs in specific and non-specific MIDs. Among the specific MIDs it has been most frequently described in LBSL, LS, MERRF, KSS, IOSCA, MIRAS, and PCH and only rarely in MELAS, CPEO, and LHON...
April 2018: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#12
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29723947/-identification-of-new-mutations-in-tcirg1-as-a-cause-of-infantile-malignant-osteopetrosis-in-two-mexican-patients
#13
Claudia Hernández-Martínez, Mara Noemí Guzmán-Martínez, Selma Scheffler-Mendoza, Sara Elva Espinosa-Padilla, Cristina Sobacchi, Lizbeth Blancas-Galicia
BACKGROUND: Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption. CASE REPORTS: Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and bicytopenia. Bone radiographs showed osteosclerosis...
January 2018: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29719671/delineation-of-the-genetic-and-clinical-spectrum-of-phelan-mcdermid-syndrome-caused-by-shank3-point-mutations
#14
Silvia De Rubeis, Paige M Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria Del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A Ting Wang, J Lloyd Holder, Catalina Betancur, Joseph D Buxbaum, Alexander Kolevzon
Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29716882/vacuolization-in-myeloid-and-erythroid-precursors-in-a-child-with-menkes-disease
#15
Seçil Sayın, Şule Ünal, Mualla Cetin, Fatma Gumruk
A five year-old boy, who was under follow-up with a clinical and biochemical diagnosis of Menkes Disease (MD) since ten months of age, was admitted with diarrhea. On examination he had a characteristic cherubic face hypopigmented, sparse hair, hepatosplenomegaly, hypotonia with brisk deep tendon reflexes. Hemogram revealed: Hb:5.5g/dL, Hct:16.2%, RBC:1.69x1012/L, MCV:95.8fL, MCH:32.3pg, RDW:19.2%, WBC:2.2x109/L and platelet count;157x109/L. Serum vitamin B12 level was 575pg/mL. Serum copper level was 81μg/dL and serum zinc level was 152μg/dL...
April 30, 2018: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/29714107/intermittent-esotropia-in-4-patients-with-allan-herndon-dudley-syndrome
#16
Cole J Swiston, David L Nash
Allan-Herndon-Dudley syndrome is a rare X-linked neurologic condition caused by mutations in monocarboxylate transporter 8 ( MCT8), which leads to deficient thyroid hormone transport. Typical features include severe cognitive impairment, truncal hypotonia, spastic paraplegia, weakness, and speech difficulties. Minimal literature exists describing the ocular findings in patients with Allan-Herndon-Dudley syndrome. We describe 4 male siblings affected with Allan-Herndon-Dudley syndrome with a novel nonsense mutation (Q90X) in the MCT8 protein...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29707938/novel-lama2-gene-mutations-associated-with-merosin-deficient-congenital-muscular-dystrophy
#17
Feyzollah Hashemi-Gorji, Vahid Reza Yassaee, Parisa Dashti, Mohammad Miryounesi
Background: Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated levels of creatine kinase, and normal magnetic resonance imaging before the age of six months Methods: Peripheral blood samples were collected from three unrelated patients and their families after obtaining their informed written consents...
April 30, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29699707/anaesthetic-management-of-a-paediatric-patient-with-congenital-fibre-type-disproportion-myopathy
#18
F Buisán, O de la Varga, M Flores, J Sánchez-Ruano
Congenital fibre type disproportion (CFTD) is a rare type of myopathy that is characterised by muscle weakness and hypotonia during childhood. Clinical features include motor delay, feeding difficulties, limb weakness, joint contractures, and scoliosis. A report is presented of the anaesthetic management of a 3-year-old girl with CFTD myopathy associated with a mutation of the TPM3 gene, scheduled for adenotonsillectomy because of obstructive sleep apnoea hypopnoea syndrome (OSAHS). The main concerns were the possible susceptibility to malignant hyperthermia, the risk of anaesthesia-induced rhabdomyolysis, a greater sensitivity to non-depolarising muscle relaxants, and the presence of OSAHS...
April 23, 2018: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/29698806/identification-of-two-14q32-deletions-involving-dicer1-associated-with-the-development-of-dicer1-related-tumors
#19
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/29695797/a-biallelic-36-bp-insertion-in-pibf1-is-associated-with-joubert-syndrome
#20
Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas, Katta M Girisha
Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome...
April 25, 2018: Journal of Human 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"