keyword
MENU ▼
Read by QxMD icon Read
search

Hypotonia

keyword
https://www.readbyqxmd.com/read/28542722/a-homozygous-potentially-pathogenic-variant-in-the-paxbp1-gene-in-a-large-family-with-global-developmental-delay-and-myopathic-hypotonia
#1
Essa Alharby, Alia M Albalawi, Abdul Nasir, Sabri A Alhijji, Amer Mahmood, Khushnooda Ramzan, Firoz Abdusamad, Abdulkarim Aljohani, Osama Abdelsalam, Amr Eldardear, Sulman Basit
PAX binding protein 1 (PAXBP1) is an adaptor protein linking the transcription factor PAX3 and PAX7 to the histone methylation machinery. PAXBP1 is a nuclear protein and its high expression is known in brain cerebellar hemisphere and cerebellum. Moreover, it is also found in abundance in muscle precursor cells that are involved in myogenesis and skeletal muscles formation. Whole genome SNP genotyping and exome sequencing in a family with distinct syndrome of global developmental delay and hypotonia mapped the disease locus to the chromosome 21q22...
May 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#2
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#3
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#4
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28506334/-mecp2-duplication-syndrome-a-clinical-analysis-of-three-cases-and-literature-review
#5
Dan-Xia Tang, Dong-Fang Li, Ruo-Hao Wu, Li-Na Zhang, Xiang-Yang Luo
MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. In this article, the three children with this disease were all boys. Cases 1 and 2 had delayed motor development, and language loss or delay as initial manifestations, and case 3 had recurrent infection as initial manifestation. Physical examination showed hypotonia and negative pathological signs in each case...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28497716/polyglucosan-bodies-in-placental-extravillious-trophoblast-for-the-diagnosis-of-fatal-perinatal-neuromuscular-type-glycogen-storage-disease-type-iv
#6
Weiming Yu, Marie-Anne Brundler, James R Wright
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28497078/joubert-syndrome-misleading-presentation-of-two-cases-as-pseudo-tumor-cerebri-and-literature-review
#7
Farrokh Seylanian Toosi, Samineh Boloursaz, Bita Abbasi, Reza Hekmat, Reihaneh Mortazavi Ardestani, Mina Mohajerzadeh
Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transplant years ago without the true diagnosis of the disorder. Brain imaging revealed the classic "molar tooth sign" appearance, and clinical evaluation established the diagnosis for both of the siblings. Imaging should be done to evaluate the neuroradiological findings of Joubert syndrome...
2017: Journal of Renal Injury Prevention
https://www.readbyqxmd.com/read/28495146/neonatal-vein-of-labb%C3%A3-infarction-size-is-associated-with-long-term-language-outcomes
#8
Kristen L Benninger, Lynne Ruess, Laurel A Slaughter, Nathalie L Maitre, Jerome A Rusin
BACKGROUND: The vein of Labbé is a superficial cortical vein, which drains the lateral surface of the temporal lobe. Thrombosis of the vein of Labbé can occur in the neonatal period. The developmental outcomes of infants who had vein of Labbé thrombosis are unknown as few studies of outcomes exist. METHODS: We completed a retrospective review of infants born ≥34 weeks of gestation, diagnosed with vein of Labbé thrombosis, and/or infarction on neuroimaging during the first 30 days of life...
April 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28494813/not-only-dominant-not-only-optic-atrophy-expanding-the-clinical-spectrum-associated-with-opa1-mutations
#9
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
BACKGROUND: Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy. RESULTS: We report here three patients: one boy showing an early-onset mitochondrial disorder with hypotonia, ataxia and neuropathy that was severely progressive, leading to early death because of multiorgan failure; two unrelated sporadic girls manifesting a spastic ataxic syndrome associated with peripheral neuropathy and, only in one, optic atrophy...
May 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28493820/deoxyguanosine-kinase-deficiency-a-report-of-four-patients
#10
Özlem Ünal, Burcu Hişmi, Mustafa Kılıç, Hayriye Hızarcıoğlu Gülşen, Turgay Coşkun, Serap Hatice Sivri, Ali Dursun, Aysel Yüce, Ayşegül Tokatlı
BACKGROUND: Hepatic involvement is a common feature in childhood mitochondrial disorders. Deoxyguanosine kinase (DGUOK) deficiency is one of the mitochondrial DNA depletion syndromes associated with hepatocerebral syndrome. Hepatic disease and neurologic dysfunction occurs within weeks after birth. Low birth weight is one of the common features. This study aims to describe the clinical and laboratory features of four infants carrying four different pathogenic variants in the DGUOK gene...
May 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28493104/hypomyelinating-leukodystrophy-associated-with-a-deleterious-mutation-in-the-atrn-gene
#11
Maher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur, Bassam Abu-Libdeh, Orly Elpeleg
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. We used whole exome analysis to study the molecular basis of hypomyelinating leukodystrophy in two sibs from a consanguineous family. A homozygous mutation, c.3068+5G>A, was identified in the ATRN gene, with the consequent insertion of an intronic sequence into the patients' cDNA and a predicted premature termination of the ATRN polypeptide...
May 10, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28489314/unclassifiable-pattern-of-hypopigmentation-in-a-patient-with-mosaic-partial-12p-tetrasomy-without-pallister-killian-syndrome
#12
Viola Alesi, Maria L Dentici, Fabrizia Restaldi, Valeria Orlando, Maria T Liambo, Chiara Calacci, Rossella Capolino, Maria C Digilio, May El Hachem, Antonio Novelli, Andrea Diociaiuti, Bruno Dallapiccola
Pallister-Killian syndrome (PKS-#OMIM601803) is a multisystem developmental disorder typically due to the presence of an aneuploidy cell line, consisting of a supernumerary tetrasomic chromosomal marker (SCM) arisen from the short arm of chromosome 12 (12p isochromosome). The clinical phenotype, which is strictly related to the percentage and tissue distribution of aneuploid cells, is characterized by craniofacial dysmorphisms, pigmentary skin anomalies, limb shortening, congenital heart defects, diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28487784/respiratory-failure-due-to-severe-obesity-and-kyphoscoliosis-in-a-24-year-old-male-with-molecularly-confirmed-prader-willi-syndrome-in-tertiary-hospital-in-northern-tanzania
#13
Elichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, Kajiru Kilonzo, Ben C J Hamel
Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28487569/novel-mutations-in-adsl-for-adenylosuccinate-lyase-deficiency-identified-by-the-combination-of-trio-wes-and-constantly-updated-guidelines
#14
Xiao Mao, Kai Li, Beisha Tang, Yang Luo, Dongxue Ding, Yuwen Zhao, Chunrong Wang, Xiaoting Zhou, Zhenhua Liu, Yuan Zhang, Puzhi Wang, Qian Xu, Qiying Sun, Kun Xia, Xinxiang Yan, Hong Jiang, Shen Lu, Jifeng Guo
Whole-exome sequencing (WES), one of the next-generation sequencing (NGS), has become a powerful tool to identify exonic variants. Investigating causality of the sequence variants in human disease becomes an important part in NGS for the research and clinical applications. Recently, important guidelines on them have been published and will keep on updating. In our study, two Chinese families, with the clinical diagnosis of "Epilepsy", which presented with seizures, psychomotor retardation, hypotonia and etc...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28486374/premature-thelarche-and-the-pura-syndrome
#15
Joshua Rezkalla, Tiffany Von Wald, Keith A Hansen
BACKGROUND: Premature thelarche is a self-limited condition characterized by Tanner stage II-III breast development in girls younger than 8 years of age with no evidence of advancing puberty. Evaluation concentrates on excluding central or peripheral causes of precocious puberty. CASE: A girl aged 2 years 4 months with profound hypotonia and delayed developmental milestones presented with Tanner II breast development, elevated follicle-stimulating hormone levels, suppressed luteinizing hormone level, normal growth and skeletal development, and prepubertal uterine length and ovarian volume...
June 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28482374/novel-rrm2b-mutation-and-severe-mitochondrial-dna-depletion-report-of-2-cases-and-review-of-the-literature
#16
Nesia Kropach, Vered Shkalim-Zemer, Naama Orenstein, Oded Scheuerman, Rachel Straussberg
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness...
May 8, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28476546/infantile-gangliosidoses-mapping-a-timeline-of-clinical-changes
#17
Jeanine R Jarnes Utz, Sarah Kim, Kelly King, Richard Ziegler, Lynn Schema, Evelyn S Redtree, Chester B Whitley
BACKGROUND: Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). To date, natural history studies in infantile GM2 (iGM2) have been retrospective and conducted through surveys. Compared to iGM2, there is even less natural history information available on infantile GM1 disease (iGM1). There are no approved treatments for infantile gangliosidoses. Substrate reduction therapy using miglustat has been tried, but is limited by gastrointestinal side effects...
April 29, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28471437/the-clinical-spectrum-and-natural-history-of-early-onset-diseases-due-to-dna-polymerase-gamma-mutations
#18
Omar Hikmat, Charalampos Tzoulis, Wui K Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda J Carr, Prab Prabhakar, Nandhini Kumaraguru, Paul Gissen, J Helen Cross, Thomas S Jacques, Jan-Willem Taanman, Laurence A Bindoff, Shamima Rahman
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed a multinational, phenotype: genotype study using patients from three centers, two Norwegian and one from the United Kingdom. Patients with age at onset <12 years and confirmed pathogenic biallelic POLG mutations were considered eligible...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28469921/gonadotrophin-abnormalities-in-an-infant-with-lowe-syndrome
#19
Bronwen E Warner, Carol D Inward, Christine P Burren
SUMMARY: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28468959/dominant-er-stress-inducing-wfs1-mutations-underlie-a-genetic-syndrome-of-neonatal-infancy-onset-diabetes-congenital-sensorineural-deafness-and-congenital-cataracts
#20
Elisa De Franco, Sarah E Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T Hattersley
Neonatal diabetes is frequently part of a complex syndrome with extra-pancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There remain patients with neonatal diabetes who have novel genetic syndromes.We performed exome sequencing in a patient and his unrelated, unaffected parents to identify the genetic aetiology of a syndrome characterized by neonatal diabetes, sensorineural deafness and congenital cataracts. Further testing was performed in 311 patients with diabetes diagnosed before 1 year of age in whom all known genetic causes had been excluded...
May 3, 2017: Diabetes
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"