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https://www.readbyqxmd.com/read/28933030/phenotype-comparison-confirms-zmynd11-as-a-critical-gene-for-10p15-3-microdeletion-syndrome
#1
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies...
September 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28918504/autism-spectrum-disorders-and-disease-modeling-using-stem-cells
#2
REVIEW
Anita Brito, Fabiele Baldino Russo, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others...
September 16, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#3
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28900819/a-homozygous-pigo-mutation-associated-with-severe-infantile-epileptic-encephalopathy-and-corpus-callosum-hypoplasia-but-normal-alkaline-phosphatase-levels
#4
Yoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, Yonatan Sapir, Luci Zalman, Ilana Chervinsky, Markus Schuelke, Rachel Straussberg, Ronen Spiegel
We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI in both children showed a corpus callosum hypoplasia that was evident already in utero and evolving cortical atrophy...
September 13, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28898323/-pontocerebellar-hypoplasia-secondary-to-cask-gene-deletion-case-report
#5
Lucía Rivas, Óscar Blanco, Cristina Torreira, Alfredo Repáraz, Cristina Melcón, Alfonso Amado
INTRODUCTION: Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic and genetic diseases. OBJECTIVE: To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28893488/-clinical-criteria-for-pathogen-bacteria-in-term-newborn-suspected-of-neonatal-sepsis
#6
A Glusko-Charlet, C Fontaine, M Raucy, L Barcat, A Lahana, R Erbani, G Poirie, G Kongolo, M Diouf, A Leke, J Gondry, P Tourneux
BACKGROUND: Neonatal early onset sepsis (EOS) remains an important etiology of neonatal morbidity and mortality. Diagnosis is difficult due to a lack of sensitivity and specificity markers. In France, the management of newborn infants suspected of infection includes the analysis of gastric suction. The objective of the study was to identify early clinical signs in newborn infants with suspected neonatal sepsis to differentiate a likely infection with pathogen bacteria in the gastric suction culture (Streptococcus agalactiae or Escherichia coli) from a possible infection without such pathogen bacteria...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28888560/unintentional-cannabis-ingestion-in-children-a-systematic-review
#7
John R Richards, Nishelle E Smith, Aimee K Moulin
OBJECTIVE: To analyze published reports of unintentional cannabis ingestions in children to determine presenting signs and symptoms, route of exposure, treatment, and outcome. STUDY DESIGN: PubMed, OpenGrey, and Google Scholar were systematically searched. Articles were selected, reviewed, and graded using Oxford Center for Evidence-Based Medicine guidelines. RESULTS: Of 3316 articles, 44 were included (3582 children age ≤12 years). We found no high quality (Oxford Center for Evidence-Based Medicine level I or II) studies and 10 level III studies documenting lethargy as the most common presenting sign and confirming increasing incidence of unintentional ingestion in states having decriminalized medical and recreational cannabis...
September 6, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#8
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28887151/altered-synaptobrevin-ii-trafficking-in-neurons-expressing-a-synaptophysin-mutation-associated-with-a-severe-neurodevelopmental-disorder
#9
Callista B Harper, Grazia M S Mancini, Marjon van Slegtenhorst, Michael A Cousin
Following exocytosis, synaptic vesicles (SVs) have to be reformed with the correct complement of proteins in the correct stoichiometry to ensure continued neurotransmission. Synaptophysin is a highly abundant, integral SV protein necessary for the efficient retrieval of the SV SNARE protein, synaptobrevin II (sybII). However the molecular mechanism underpinning synaptophysin-dependent sybII retrieval is still unclear. We recently identified a male patient with severe intellectual disability, hypotonia, epilepsy and callosal agenesis who has a point mutation in the juxtamembrane region of the fourth transmembrane domain of synaptophysin (T198I)...
September 5, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28883788/loss-of-mitochondrial-ndufs4-in-striatal-medium-spiny-neurons-mediates-progressive-motor-impairment-in-a-mouse-model-of-leigh-syndrome
#10
Byron Chen, Jessica Hui, Kelsey S Montgomery, Alejandro Gella, Irene Bolea, Elisenda Sanz, Richard D Palmiter, Albert Quintana
Inability of mitochondria to generate energy leads to severe and often fatal myoencephalopathies. Among these, Leigh syndrome (LS) is one of the most common childhood mitochondrial diseases; it is characterized by hypotonia, failure to thrive, respiratory insufficiency and progressive mental and motor dysfunction, leading to early death. Basal ganglia nuclei, including the striatum, are affected in LS patients. However, neither the identity of the affected cell types in the striatum nor their contribution to the disease has been established...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28882193/fragile-x-mental-retardation-protein-regulates-skeletal-muscle-stem-cell-activity-by-regulating-the-stability-of-myf5-mrna
#11
Ryo Fujita, Victoria Zismanov, Jean-Marie Jacob, Solène Jamet, Krum Asiev, Colin Crist
BACKGROUND: Regeneration of adult tissues relies on adult stem cells that are primed to enter a differentiation program, while typically remaining quiescent. In mouse skeletal muscle, these features are reconciled by multiple translational control mechanisms that ensure primed muscle stem cells (MuSCs) are not activated. In quiescent MuSCs, this concept is illustrated by reversible microRNA silencing of Myf5 translation, mediated by microRNA-31 and fragile X mental retardation protein (FMRP)...
September 7, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28872899/two-novel-variants-affecting-cdkl5-transcript-associated-with-epileptic-encephalopathy
#12
Jana Neupauerová, Katalin Štěrbová, Markéta Vlčková, Věra Sebroňová, Tat'ána Maříková, Marcela Krůtová, David Staněk, Pavel Kršek, Markéta Žaliová, Pavel Seeman, Petra Laššuthová
BACKGROUND: Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic encephalopathy type 2 (EIEE2). We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact. METHODS: Massively parallel sequencing (MPS) of a custom-designed gene panel for epilepsy and epileptic encephalopathy containing 112 epilepsy-related genes was performed...
September 5, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28868593/mutation-in-the-agk-gene-in-two-siblings-with-unusual-sengers-syndrome
#13
Sanae Allali, Imen Dorboz, Simon Samaan, Abdelhamid Slama, Charlène Rambaud, Odile Boespflug-Tanguy, Catherine Sarret
Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c...
September 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28863961/cerebellopathy-secondary-to-anti-peroxidase-antibody-mediated-toxicity-a-special-case-of-hashimoto-encephalopathy
#14
Gary Álvarez Bravo, Antonio Yusta Izquierdo, Guilherme Carvalho Monteiro, Irene Sánchez
OBJECTIVE: The aim of this case report is to highlight the importance of recognizing uncommon causes of cerebellar involvement. CASE PRESENTATION: A 45-year-old woman with no medical history who presented gait instability that appears suddenly and evolves rapidly in two weeks, causing frequent falls. Neurological examination revealed an inability to walk due to severe ataxia, accompanied by global hypotonia, appendicular dysmetria, opsoclonus and dysarthria. We studied this patient with cerebellar syndrome, obtaining as relevant findings global cerebellar atrophy in MRI (magnetic resonance imaging) and especially, considerably elevated levels of antibodies against thyroid peroxidase (TPO)...
August 19, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28857140/say-barber-biesecker-young-simpson-syndrome-and-genitopatellar-syndrome-lumping-or-splitting
#15
REVIEW
Fortunato Lonardo, Maria Serena Lonardo, Fabio Acquaviva, Matteo Della Monica, Francesca Scarano, Gioacchino Scarano
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are two rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual disability, hypotonia, genital abnormalities, and patellar hypoplasia/agenesis. In addition, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies are common to both phenotypes...
August 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28856607/natural-history-of-aromatic-l-amino-acid-decarboxylase-deficiency-in-taiwan
#16
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hsin Li
OBJECTIVES: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan. PATIENTS AND METHODS: We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency...
August 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28856174/a-rare-syndrome-of-grid2-deletion-in-2-siblings
#17
Aravindhan Veerapandiyan, Stephanie Enner, Venkatraman Thulasi, Xue Ming
The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28854840/should-delivery-timing-for-repeat-cesarean-be-reconsidered-based-on-dating-criteria
#18
Kathleen F Brookfield, Sarah S Osmundson, Aaron B Caughey
PURPOSE: We sought to examine if the method of pregnancy dating at five increasing term gestational ages is associated with increasing neonatal morbidity. MATERIALS AND METHODS: A cohort of women who underwent elective repeat cesarean delivery at > 37 weeks' gestation were identified from the NICHD MFMU Network registry. We excluded women who were in labor, those carrying a fetus with a congenital anomaly, those with a nonreassuring fetal heart tracing, and those with preeclampsia, preexisting chronic hypertension or diabetes...
August 30, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28851325/novel-foxg1-mutations-in-chinese-patients-with-rett-syndrome-or-rett-like-mental-retardation
#19
Qingping Zhang, Jiaping Wang, Jiarui Li, Xinhua Bao, Ying Zhao, Xiaoying Zhang, Liping Wei, Xiru Wu
BACKGROUND: We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR). METHODS: Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing. RESULTS: Four FOXG1 mutations were detected in four patients (three with RTT and one with RTT-like MR), including one previously described mutation and three novel mutations...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28846437/oxygen-administration-improves-survival-but-worsens-cardiopulmonary-functions-in-chlorine-exposed-rats
#20
Obiefuna C Okponyia, Matthew D McGraw, Marilyn M Dysart, Rhonda B Garlick, Jacqueline S Rioux, Angela L Murphy, Gates B Roe, Carl W White, Livia A Veress
RATIONALE: Chlorine is a highly reactive gas that can cause significant injury when inhaled. Unfortunately, its use as a chemical weapon has increased in recent years. Massive chlorine inhalation can cause death within 4h of exposure. Survivors usually require hospitalization after massive exposure. No countermeasures exist for massive chlorine exposure, and supportive care measures lack controlled trials. METHODS: Adult rats were exposed to chlorine gas (LD58-67) in a whole-body exposure chamber, and given oxygen (0...
August 28, 2017: American Journal of Respiratory Cell and Molecular Biology
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