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  1 / 391 MEDLINE  
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[PMID]:28530638
[Au] Autor:Huang J; Vanoye CG; Cutts A; Goldberg YP; Dib-Hajj SD; Cohen CJ; Waxman SG; George AL
[Ad] Endereço:Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine; and Rehabilitation Research Center, Veterans Administration Connecticut Healthcare System, West Haven, Connecticut, USA.
[Ti] Título:Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.
[So] Source:J Clin Invest;127(7):2805-2814, 2017 Jun 30.
[Is] ISSN:1558-8238
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Voltage-gated sodium channel (NaV) mutations cause genetic pain disorders that range from severe paroxysmal pain to a congenital inability to sense pain. Previous studies on NaV1.7 and NaV1.8 established clear relationships between perturbations in channel function and divergent clinical phenotypes. By contrast, studies of NaV1.9 mutations have not revealed a clear relationship of channel dysfunction with the associated and contrasting clinical phenotypes. Here, we have elucidated the functional consequences of a NaV1.9 mutation (L1302F) that is associated with insensitivity to pain. We investigated the effects of L1302F and a previously reported mutation (L811P) on neuronal excitability. In transfected heterologous cells, the L1302F mutation caused a large hyperpolarizing shift in the voltage-dependence of activation, leading to substantially enhanced overlap between activation and steady-state inactivation relationships. In transfected small rat dorsal root ganglion neurons, expression of L1302F and L811P evoked large depolarizations of the resting membrane potential and impaired action potential generation. Therefore, our findings implicate a cellular loss of function as the basis for impaired pain sensation. We further demonstrated that a U-shaped relationship between the resting potential and the neuronal action potential threshold explains why NaV1.9 mutations that evoke small degrees of membrane depolarization cause hyperexcitability and familial episodic pain disorder or painful neuropathy, while mutations evoking larger membrane depolarizations cause hypoexcitability and insensitivity to pain.
[Mh] Termos MeSH primário: Potenciais de Ação/genética
Ativação do Canal Iônico/genética
Mutação de Sentido Incorreto
Neurônios/metabolismo
Insensibilidade Congênita à Dor
[Mh] Termos MeSH secundário: Adulto
Substituição de Aminoácidos
Feminino
Seres Humanos
Canal de Sódio Disparado por Voltagem NAV1.9/genética
Canal de Sódio Disparado por Voltagem NAV1.9/metabolismo
Insensibilidade Congênita à Dor/genética
Insensibilidade Congênita à Dor/metabolismo
Insensibilidade Congênita à Dor/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.9 Voltage-Gated Sodium Channel); 0 (SCN11A protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170930
[Lr] Data última revisão:
170930
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170523
[St] Status:MEDLINE


  2 / 391 MEDLINE  
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[PMID]:28494607
[Au] Autor:Rajasekharan S; Martens L; Domingues L; Cauwels R
[Ad] Endereço:Department of Paediatric Dentistry & Special Care, PAECOMEDIS research cluster, Ghent University, Ghent, Belgium.
[Ti] Título:SCN9A channelopathy associated autosomal recessive Congenital Indifference to Pain. A case report.
[So] Source:Eur J Paediatr Dent;18(1):66-68, 2017 Mar.
[Is] ISSN:1591-996X
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities. The condition has been mapped to an autosomal recessive trait to chromosome 2q 24.3 with mutations on the SCN9A gene. CASE REPORT: A 2 year old Caucasian female presented with CIP. Bite injuries, tongue wounds and unaccounted dental trauma episodes were frequently reported. Preventive instructions and possible treatment modalities were discussed with the parents. CONCLUSION: The cornerstone of treating CIP patients is an extensive preventive approach alongside regular oral examination at home by parents as well as routine recall appointments with dentists.
[Mh] Termos MeSH primário: Canalopatias/genética
Boca/lesões
Canal de Sódio Disparado por Voltagem NAV1.7/genética
Insensibilidade Congênita à Dor/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Feminino
Seres Humanos
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.7 Voltage-Gated Sodium Channel); 0 (SCN9A protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.23804/ejpd.2017.18.01.14


  3 / 391 MEDLINE  
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[PMID]:28328138
[Au] Autor:Sharkia R; Shalev SA; Zalan A; Marom-David M; Watemberg N; Urquhart JE; Daly SB; Bhaskar SS; Williams SG; Newman WG; Spiegel R; Azem A; Elpeleg O; Mahajnah M
[Ad] Endereço:The Triangle Regional Research and Development Center, Kfar Qari', Israel.
[Ti] Título:Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
[So] Source:Am J Med Genet A;173(4):1051-1055, 2017 Apr.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals. Here, we report a new family with three siblings affected by sensorineural hearing loss and peripheral neuropathy. Autozygosity mapping followed by exome sequencing identified a previously reported homozygous missense mutation in PTRH2 (c.254A>C; p.(Gln85Pro)). Sanger sequencing confirmed that the variant segregated with the phenotype. In contrast to the previously reported patient, the affected siblings had normal intelligence, milder microcephaly, delayed puberty, myopia, and moderate insensitivity to pain. Our findings expand the clinical phenotype and further demonstrate the clinical heterogeneity related to PTRH2 variants.
[Mh] Termos MeSH primário: Hidrolases de Éster Carboxílico/genética
Perda Auditiva Neurossensorial/genética
Homozigoto
Proteínas Mitocondriais/genética
Mutação de Sentido Incorreto
Doenças do Sistema Nervoso Periférico/genética
[Mh] Termos MeSH secundário: Adolescente
Sequência de Bases
Consanguinidade
Progressão da Doença
Feminino
Expressão Gênica
Heterogeneidade Genética
Perda Auditiva Neurossensorial/diagnóstico
Perda Auditiva Neurossensorial/fisiopatologia
Seres Humanos
Masculino
Miopia/fisiopatologia
Insensibilidade Congênita à Dor/fisiopatologia
Linhagem
Doenças do Sistema Nervoso Periférico/diagnóstico
Doenças do Sistema Nervoso Periférico/fisiopatologia
Fenótipo
Puberdade Tardia/fisiopatologia
Irmãos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mitochondrial Proteins); EC 3.1.1.- (Carboxylic Ester Hydrolases); EC 3.1.1.29 (PTH2 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38140


  4 / 391 MEDLINE  
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[PMID]:28033318
[Au] Autor:Plassais J; Lagoutte L; Correard S; Paradis M; Guaguère E; Hédan B; Pommier A; Botherel N; Cadiergues MC; Pilorge P; Silversides D; Bizot M; Samuels M; Arnan C; Johnson R; Hitte C; Salbert G; Méreau A; Quignon P; Derrien T; André C
[Ad] Endereço:CNRS, UMR 6290, Institut de Génétique et Développement de Rennes, Rennes, France.
[Ti] Título:A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.
[So] Source:PLoS Genet;12(12):e1006482, 2016 Dec.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Human Hereditary Sensory Autonomic Neuropathies (HSANs) are characterized by insensitivity to pain, sometimes combined with self-mutilation. Strikingly, several sporting dog breeds are particularly affected by such neuropathies. Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact. Through a Genome Wide Association Study (GWAS) with 24 affected and 30 unaffected sporting dogs using the Canine HD 170K SNP array (Illumina), we identified a 1.8 Mb homozygous locus on canine chromosome 4 (adj. p-val = 2.5x10-6). Targeted high-throughput sequencing of this locus in 4 affected and 4 unaffected dogs identified 478 variants. Only one variant perfectly segregated with the expected recessive inheritance in 300 sporting dogs of known clinical status, while it was never present in 900 unaffected dogs from 130 other breeds. This variant, located 90 kb upstream of the GDNF gene, a highly relevant neurotrophic factor candidate gene, lies in a long intergenic non-coding RNAs (lincRNA), GDNF-AS. Using human comparative genomic analysis, we observed that the canine variant maps onto an enhancer element. Quantitative RT-PCR of dorsal root ganglia RNAs of affected dogs showed a significant decrease of both GDNF mRNA and GDNF-AS expression levels (respectively 60% and 80%), as compared to unaffected dogs. We thus performed gel shift assays (EMSA) that reveal that the canine variant significantly alters the binding of regulatory elements. Altogether, these results allowed the identification in dogs of GDNF as a relevant candidate for human HSAN and insensitivity to pain, but also shed light on the regulation of GDNF transcription. Finally, such results allow proposing these sporting dog breeds as natural models for clinical trials with a double benefit for human and veterinary medicine.
[Mh] Termos MeSH primário: Fator Neurotrófico Derivado de Linhagem de Célula Glial/genética
Neuropatias Hereditárias Sensoriais e Autônomas/genética
Insensibilidade Congênita à Dor/genética
Dor/genética
RNA Longo não Codificante/genética
[Mh] Termos MeSH secundário: Animais
Mapeamento Cromossômico
Cães
Regulação da Expressão Gênica
Estudo de Associação Genômica Ampla
Neuropatias Hereditárias Sensoriais e Autônomas/fisiopatologia
Seres Humanos
Dor/fisiopatologia
Insensibilidade Congênita à Dor/fisiopatologia
Mutação Puntual
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glial Cell Line-Derived Neurotrophic Factor); 0 (RNA, Long Noncoding)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170509
[Lr] Data última revisão:
170509
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161230
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006482


  5 / 391 MEDLINE  
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[PMID]:27747863
[Au] Autor:Sawal HA; Harripaul R; Mikhailov A; Dad R; Ayub M; Jawad Hassan M; Vincent JB
[Ad] Endereço:Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.
[Ti] Título:Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.
[So] Source:Clin Genet;90(6):563-565, 2016 Dec.
[Is] ISSN:1399-0004
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:(a) Homozygosity-mapping-by-descent of four Bhakkar congenital indifference/insensitivity to pain (CIP) families. (b) Identification of mutation Met1190* in SCN9A. (c) SCN9A/NaV1.7 2D structure (as predicted by CCTOP and SMART) and approximate position of known nonsense (*) and missense (M) mutations ( www.hgmd.cf.ac.uk), as well as the Bhakkar mutation (this study) in red.
[Mh] Termos MeSH primário: Mutação
Canal de Sódio Disparado por Voltagem NAV1.7/genética
Insensibilidade Congênita à Dor/genética
[Mh] Termos MeSH secundário: Análise Mutacional de DNA
Feminino
Homozigoto
Seres Humanos
Masculino
Canal de Sódio Disparado por Voltagem NAV1.7/química
Insensibilidade Congênita à Dor/fisiopatologia
Paquistão
Linhagem
Conformação Proteica
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (NAV1.7 Voltage-Gated Sodium Channel); 0 (SCN9A protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161018
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12860


  6 / 391 MEDLINE  
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[PMID]:27551041
[Au] Autor:Franco ML; Melero C; Sarasola E; Acebo P; Luque A; Calatayud-Baselga I; García-Barcina M; Vilar M
[Ad] Endereço:From the Molecular Basis of Neurodegeneration Unit, Institute of Biomedicine of València, IBV-CSIC, c/o Jaume Roig 11, 46010 València,.
[Ti] Título:Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.
[So] Source:J Biol Chem;291(41):21363-21374, 2016 Oct 07.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by insensitivity to noxious stimuli and variable intellectual disability (ID) due to mutations in the NTRK1 gene encoding the NGF receptor TrkA. To get an insight in the effect of NTRK1 mutations in the cognitive phenotype we biochemically characterized three TrkA mutations identified in children diagnosed of CIPA with variable ID. These mutations are located in different domains of the protein; L213P in the extracellular domain, Δ736 in the kinase domain, and C300stop in the extracellular domain, a new mutation causing CIPA diagnosed in a Spanish teenager. We found that TrkA mutations induce misfolding, retention in the endoplasmic reticulum (ER), and aggregation in a mutation-dependent manner. The distinct mutations are degraded with a different kinetics by different ER quality control mechanisms; although C300stop is rapidly disposed by autophagy, Δ736 degradation is sensitive to the proteasome and to autophagy inhibitors, and L213P is a long-lived protein refractory to degradation. In addition L213P enhances the formation of autophagic vesicles triggering an increase in the autophagic flux with deleterious consequences. Mouse cortical neurons expressing L213P showed the accumulation of LC3-GFP positive puncta and dystrophic neurites. Our data suggest that TrkA misfolding and aggregation induced by some CIPA mutations disrupt the autophagy homeostasis causing neurodegeneration. We propose that distinct disease-causing mutations of TrkA generate different levels of cell toxicity, which may provide an explanation of the variable intellectual disability observed in CIPA patients.
[Mh] Termos MeSH primário: Autofagia
Hipo-Hidrose/enzimologia
Mutação de Sentido Incorreto
Doenças Neurodegenerativas/enzimologia
Insensibilidade Congênita à Dor/enzimologia
Agregação Patológica de Proteínas/enzimologia
Deficiências na Proteostase/enzimologia
Receptor trkA/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Substituição de Aminoácidos
Animais
Córtex Cerebral/enzimologia
Feminino
Células HeLa
Seres Humanos
Hipo-Hidrose/genética
Masculino
Camundongos
Camundongos Mutantes
Doenças Neurodegenerativas/genética
Nociceptores/enzimologia
Insensibilidade Congênita à Dor/genética
Agregação Patológica de Proteínas/genética
Deficiências na Proteostase/genética
Receptor trkA/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (TRKA protein, human); EC 2.7.10.1 (Receptor, trkA)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171007
[Lr] Data última revisão:
171007
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160824
[St] Status:MEDLINE


  7 / 391 MEDLINE  
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[PMID]:27270876
[Au] Autor:Sagafos D; Kleggetveit IP; Helås T; Schmidt R; Minde J; Namer B; Schmelz M; Jørum E
[Ad] Endereço:*Section of Clinical Neurophysiology, Department of Neurology, Oslo University Hospital, Rikshospitalet, Oslo, Norway †Department of Clinical Neurophysiology, Uppsala University, Uppsala ‡Department of Surgery, Unit of Orthopedics, Perioperative Sciences, Umeå University Hospital, Umeå, Sweden §Department of Physiology and Experimental Pathophysiology, University of Erlangen, Erlangen ∥Department of Anaesthesiology and Operative Intensive Care, Heidelberg University, Mannheim, Germany.
[Ti] Título:Single-Fiber Recordings of Nociceptive Fibers in Patients With HSAN Type V With Congenital Insensitivity to Pain.
[So] Source:Clin J Pain;32(7):636-42, 2016 07.
[Is] ISSN:1536-5409
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Nerve growth factor (NGF) is a protein important for growth and survival, but also for modulation of sensitivity of nociceptors and sympathetic neurons. The purpose of the present study was to investigate the effects of reduced NGF signaling in patients with hereditary sensory and autonomic neuropathies type V, congenital insensitivity to pain, caused by a mutation of the NGFß gene, including a characterization of single nociceptive fibers using microneurography (MNG). MATERIALS AND METHODS: One homozygote and 2 heterozygote patients with this mutation were examined with electromyography/neurography, thermal testing, quantitative sudomotor axon reflex test, and electrically induced axon reflex erythema in addition to MNG. RESULTS: Low quantitative sudomotor axon reflex test measurements of 0.02 (left foot) and 0.03 (right foot) µL/cm and elevated thermal thresholds for warmth and cold detection testing showed clear impairment of small nerve fibers, both sudomotor efferent and somatic afferent fibers, in the patient homozygote for the mutation. MNG from one of the heterozygote patients revealed changes in the small nociceptive fibers in skin, including abnormally low conduction velocity, spontaneous activity in A-δ fibers and C-nociceptors and abnormal or lacking response to heat. DISCUSSION: The findings of grossly intact pain thresholds compared with anamnestic insensitivity of pain in deep somatic tissue such as bone suggest a gradient of impairment dependent on different NGF availability in various tissues. Even though these patients in some aspects report insensitivity to pain, they also report chronic spontaneous pain as their main symptom, strikingly highlighting differential mechanisms of insensitivity to evoked pain versus spontaneous pain.
[Mh] Termos MeSH primário: Neuropatias Hereditárias Sensoriais e Autônomas/genética
Neuropatias Hereditárias Sensoriais e Autônomas/fisiopatologia
Fator de Crescimento Neural/genética
Nociceptores/fisiologia
Insensibilidade Congênita à Dor/genética
Insensibilidade Congênita à Dor/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Idoso de 80 Anos ou mais
Feminino
Heterozigoto
Homozigoto
Seres Humanos
Meia-Idade
Mutação
Limiar da Dor/fisiologia
Reflexo/genética
Reflexo/fisiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (NGF protein, human); 9061-61-4 (Nerve Growth Factor)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170324
[Lr] Data última revisão:
170324
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160609
[St] Status:MEDLINE
[do] DOI:10.1097/AJP.0000000000000303


  8 / 391 MEDLINE  
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[PMID]:27184211
[Au] Autor:Kurth I; Baumgartner M; Schabhüttl M; Tomni C; Windhager R; Strom TM; Wieland T; Gremel K; Auer-Grumbach M
[Ad] Endereço:Institute of Human Genetics, Jena University Hospital, Jena, Germany.
[Ti] Título:Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
[So] Source:Am J Med Genet B Neuropsychiatr Genet;171(6):875-8, 2016 Sep.
[Is] ISSN:1552-485X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Congenital insensitivity to pain and anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterized by recurrent episodes of unexplained high fever, loss of pain perception and temperature sensation, absent sweating, repeated traumatic and thermal injuries, and mild mental retardation. After exclusion of obviously pathogenic mutations in NTRK1, the most common cause of CIPA, whole exome sequencing (WES) was carried out in a CIPA patient with unrelated parents. No mutations in known HSAN genes were identified. However, filtering for genes carrying two rare sequence variations detected 13 homozygous single nucleotide variants (SNV), all being located on chromosome 1. Further analysis strongly suggested that this finding might be best explained by uniparental disomy of chromosome 1. Because NTRK1 is also located on chromosome 1, we re-evaluated WES data and detected a novel intronic sequence variation at position c.2188-12 C>A, homozygously because of uniparental disomy. Subsequent analysis of NTRK1 transcripts in peripheral blood cells of the patient revealed an influence of the variant on mRNA splicing. The C>A transversion generated a novel splice-site, which led to the incorporation of 10 intronic bases into the NTRK1 mRNA and consequently to a non-functional gene product. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Insensibilidade Congênita à Dor/genética
Receptor trkA/genética
[Mh] Termos MeSH secundário: Criança
Exoma/genética
Feminino
Neuropatias Hereditárias Sensoriais e Autônomas/genética
Homozigoto
Seres Humanos
Íntrons/genética
Dor/genética
Linhagem
Receptor trkA/metabolismo
Dissomia Uniparental/genética
Dissomia Uniparental/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Receptor, trkA)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170921
[Lr] Data última revisão:
170921
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160518
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.b.32458


  9 / 391 MEDLINE  
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[PMID]:27000762
[Au] Autor:Nabiyev V; Kara A; Aksoy MC
[Ad] Endereço:Department of Orthopaedics and Traumatology, School of Medicine, Hacettepe University, Altindag, 06100, Ankara, Turkey.
[Ti] Título:Multidisciplinary assessment of congenital insensitivity to pain syndrome.
[So] Source:Childs Nerv Syst;32(9):1741-4, 2016 Sep.
[Is] ISSN:1433-0350
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Congenital insensitivity to pain and anhidrosis (CIPA) is a rare clinical condition characterized by the absence of normal subjective and objective responses to noxious stimuli in patients with intact central and peripheral nervous systems. CASE PRESENTATIONS: Two patients with CIPA are reported. The first patient was a 13-year-old girl who presented to our hospital with multiple joint destructions secondary to osteomyelitis. The second patient was a 10-year-old boy who presented with multiple hand lesions and right leg osteomyelitis. Our patients were treated with multiple debridements and intravenous antibiotics according to our hospital protocol. CONCLUSION: Early recognition of the disease is important. The treatment for this condition is focused more on the prevention of bone injuries and joint infection, as opposed to a cure. There are no standard techniques or guidelines available to treat this rare disease. Overall, effective CIPA treatment is built around family education and patient training.
[Mh] Termos MeSH primário: Osteomielite/diagnóstico
Osteomielite/etiologia
Insensibilidade Congênita à Dor/complicações
Insensibilidade Congênita à Dor/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Antibacterianos/administração & dosagem
Criança
Terapia Combinada/métodos
Desbridamento/métodos
Feminino
Seres Humanos
Hipo-Hidrose/complicações
Hipo-Hidrose/diagnóstico
Hipo-Hidrose/terapia
Masculino
Osteomielite/terapia
Insensibilidade Congênita à Dor/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Bacterial Agents)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160323
[St] Status:MEDLINE
[do] DOI:10.1007/s00381-016-3059-5


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[PMID]:26992161
[Au] Autor:Sheffer R; Douiev L; Edvardson S; Shaag A; Tamimi K; Soiferman D; Meiner V; Saada A
[Ad] Endereço:Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
[Ti] Título:Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
[So] Source:Am J Med Genet A;170(6):1603-7, 2016 Jun.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:An emerging class of mitochondrial disorders is caused by mutations in nuclear genes affecting mitochondrial dynamics and function. One of these is the DNM1L gene encoding the dynamin-related protein 1 (DRP1), which is pivotal in the mitochondrial fission process. Here, we describe a patient with a novel dominant-negative, de novo DNM1L mutation, which expands the clinical spectrum. The patient reported here exhibits a chronic neurological disorder, characterized by postnatal microcephaly, developmental delay, and pain insensitivity. Muscle biopsy disclosed decreased respiratory chain complex IV activity. Exome sequencing showed a de novo heterozygous c.1084G>A (p.G362S) mutation. Subsequent studies of patient skin fibroblasts showed markedly impaired mitochondrial fission and a partial respiratory chain defect while peroxisomal morphology remained intact. Human foreskin fibroblasts over-expressing the mutant DNM1L gene displayed aberrant mitochondrial morphology. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: GTP Fosfo-Hidrolases/genética
Heterozigoto
Microcefalia/genética
Proteínas Associadas aos Microtúbulos/genética
Doenças Mitocondriais/genética
Dinâmica Mitocondrial/genética
Proteínas Mitocondriais/genética
Mutação
Insensibilidade Congênita à Dor/genética
[Mh] Termos MeSH secundário: Alelos
Biomarcadores
Pré-Escolar
Exoma
Estudos de Associação Genética
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Potencial da Membrana Mitocondrial/genética
Microcefalia/diagnóstico
Mitocôndrias/genética
Mitocôndrias/metabolismo
Mitocôndrias/ultraestrutura
Doenças Mitocondriais/diagnóstico
Insensibilidade Congênita à Dor/diagnóstico
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Microtubule-Associated Proteins); 0 (Mitochondrial Proteins); EC 3.6.1.- (GTP Phosphohydrolases); EC 3.6.5.5 (DNM1L protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160319
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37624



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