Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 141
Filtrar
2.
Complement Ther Med ; 42: 12-18, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30670229

RESUMO

BACKGROUND: Physical activity (PA) helps reduce cancer-related symptoms and improves overall functioning for women with and without a history of breast cancer (BC). Few researchers have examined the associations between PA and physiological stress measures. The aim of this study was to determine whether aerobic PA was associated with diurnal and reactive cortisol patterns, and whether these associations differed for women with and without a history of BC. METHODS: Participants were 25 women with a history of BC and 23 women without a history of BC who self-reported aerobic PA frequency. To assess diurnal cortisol patterns, participants provided five saliva samples collected on two consecutive days at the following times: upon awakening, 30 min after waking, 12 PM, 4 PM, and 9 PM. To measure reactive cortisol patterns, participants provided seven saliva samples collected before, during, and after doing the Trier Social Stress Test. RESULTS: Cortisol patterns differed statistically based on women's cancer history, whereby women without a history of BC had significantly higher overall cortisol reactivity to an acute stressor, and a marginally significant (p = .05) cancer experience by aerobic PA interaction was observed when analyzing diurnal cortisol data. CONCLUSIONS: Findings suggest that PA may not have the same effect on women with and without a history of BC.


Assuntos
Neoplasias da Mama/metabolismo , Neoplasias da Mama/fisiopatologia , Exercício Físico/fisiologia , Hidrocortisona/metabolismo , Saliva/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade , Estresse Psicológico/metabolismo , Estresse Psicológico/fisiopatologia
3.
Phys Chem Chem Phys ; 18(37): 26213-26223, 2016 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-27722598

RESUMO

Multiply protonated peptides and proteins in the gas phase can respond to near edge X-ray absorption in three different ways: (i) non dissociative ionization and ionization accompanied by loss of small neutrals, both known to dominate for proteins with masses in the 10 kDa range. (ii) Formation of immonium ions, dominating for peptides in the 1 kDa range. (iii) Backbone scission leading to sequence ions which is typically weaker and has mainly been observed for peptides in the 1 kDa range. We have studied carbon 1s photoexcitation and photoionization for a series of peptides and proteins with masses covering the range from 0.5 kDa to more than 10 kDa. The gas phase protonated molecules were trapped in a radiofrequency ion trap and exposed to synchrotron radiation. Time of flight mass spectrometry was employed for investigation of the photoionization and photofragmentation processes. A smooth transition from the photofragmentation regime to the non-dissociative photoionization regime is observed. Mass spectra are most complex in the few kDa regime, where non-dissociative ionization, backbone scission and immonium ion formation coexist. The observed correlation between protein size and fragmentation, i.e. radiation damage, is of relevance for soft X-ray microscopy.


Assuntos
Gases/química , Proteínas/química , Aminoácidos/química , Gramicidina/química , Íons/química , Espectrometria de Massas por Ionização por Electrospray , Temperatura
4.
Arch Pediatr ; 19(7): 741-4, 2012 Jul.
Artigo em Francês | MEDLINE | ID: mdl-22652521

RESUMO

Kawasaki disease is acute self-limited vasculitis of unknown etiology that mainly affects infants and young children. Many different clinical aspects can be encountered. A single dose of intravenous immunoglobulin and treatment by aspirin are the standard therapy. Cases of immunoglobulin therapy resistance pose a real problem. We report on the case of a 14-year-old boy with Kawasaki disease and hemophagocytic syndrome, resistant to the combination of two doses of immunoglobulins and three doses of corticosteroids. Recovery was obtained with one dose of infliximab. This observation highlights Kawasaki disease in adolescents and the therapeutic difficulties that may be encountered in cases of resistance to immunoglobulins. Association with macrophage activation syndrome is rare.


Assuntos
Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Linfo-Histiocitose Hemofagocítica/complicações , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Adolescente , Resistência a Medicamentos , Humanos , Masculino
5.
Arch Pediatr ; 16 Suppl 2: S129-31, 2009 Oct.
Artigo em Francês | MEDLINE | ID: mdl-19836676

RESUMO

Visceral leishmaniasis is endemic around Mediterranean and is considered by certain authors as an opportunist disease. We report on the case of a 7-year-old girl treated by anti-TNF for an idiopathic juvenile arthritis which has presented a visceral leishmaniasis. Four years later, she presented a pseudotumoral-like recurrence located in a nasal mucous membrane. Leishmania infantum is classically responsible for visceral leishmaniasis but pure mucocutaneous leishmaniasis has been described. It is, for our knowledge, the first observation of a recurrence of visceral leishmaniasis in a mucocutaneous location. Atypical leishmaniasis in the endemic zones can appear in immunodepressed patients and must be evoked when in doubt.


Assuntos
Leishmania infantum/imunologia , Leishmaniose Visceral/diagnóstico , Adjuvantes Imunológicos/uso terapêutico , Animais , Anticorpos Antiprotozoários/imunologia , Antígenos de Protozoários/imunologia , Criança , Doenças do Cão/diagnóstico , Doenças do Cão/imunologia , Doenças do Cão/transmissão , Cães , Feminino , Humanos , Imunoglobulina G/imunologia , Interferon gama/uso terapêutico , Leishmaniose Cutânea/tratamento farmacológico , Leishmaniose Cutânea/imunologia , Leishmaniose Cutânea/transmissão , Leishmaniose Visceral/tratamento farmacológico , Leishmaniose Visceral/imunologia , Leishmaniose Visceral/transmissão , Zoonoses/transmissão
6.
Arch Pediatr ; 16(11): 1461-3, 2009 Nov.
Artigo em Francês | MEDLINE | ID: mdl-19748244

RESUMO

We report on the case of an infant who was hospitalized because of failure to thrive, megaloblastic anemia, and delayed psychomotor development. He was 10 months old and had been exclusively breast-fed by his vegan mother. Investigations showed vitamin B(12) deficiency with hematocytopenia and pervasive developmental disorders as well as vitamin K and vitamin D deficiencies. The infant's mother presented the same deficiencies. Introduction of vitamin supplementation normalized the biological disorders, and the infant showed weight gain and neurological improvement. This case highlights that a vegan diet during pregnancy followed by exclusive breast-feeding can induce nutritional deficiencies in the newborn, with clinical consequences. Detecting mother and child vitamin deficiencies and preventing them is essential.


Assuntos
Anemia Megaloblástica/etiologia , Aleitamento Materno , Deficiências do Desenvolvimento/etiologia , Dieta Vegetariana/efeitos adversos , Insuficiência de Crescimento/etiologia , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/etiologia , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/etiologia , Deficiência de Vitamina K/diagnóstico , Deficiência de Vitamina K/etiologia , Diagnóstico Diferencial , Insuficiência de Crescimento/terapia , Feminino , Humanos , Lactente , Masculino , Deficiência de Vitamina D/terapia , Deficiência de Vitamina K/terapia
7.
Arch Pediatr ; 16(7): 1011-5, 2009 Jul.
Artigo em Francês | MEDLINE | ID: mdl-19369045

RESUMO

Structured treatment interruption in HIV is now being debated. There are 2 cases in which it may be discussed: when the initial treatment was started early and when there is no compliance to treatment [Yeni P, et al. Les nouvelles recommandations de prise en charge des personnes infectées par le VIH 2006. Paris: Flammarion médecine-sciences; 2006]. Noncompliant behavior is one of the characteristics of chronic illness during adolescence. In HIV infection, however, the prognosis is negatively influenced because the resulting resistance to the antiretroviral therapy can further reduce therapeutic options. Therefore, it is important in such a critical period to consider both what is consciously and unconsciously at stake and what responsible action could be taken when a specialist is faced with spontaneous (unplanned) treatment interruption. We report here examples of follow-up care, interruption, and resumption of treatment in 4 female adolescents.


Assuntos
Fármacos Anti-HIV/administração & dosagem , Infecções por HIV/tratamento farmacológico , Cooperação do Paciente , Adolescente , Farmacorresistência Viral Múltipla , Feminino , Seguimentos , França , Infecções por HIV/diagnóstico , Infecções por HIV/psicologia , Infecções por HIV/transmissão , Humanos , Masculino , Equipe de Assistência ao Paciente , Cooperação do Paciente/psicologia , Prognóstico , Encaminhamento e Consulta , Carga Viral
8.
Arch Pediatr ; 16(3): 243-7, 2009 Mar.
Artigo em Francês | MEDLINE | ID: mdl-19181497

RESUMO

UNLABELLED: Turicella otitidis is a nonfermentative, Gram-positive bacillus, which is almost exclusively isolated from the ear. Few cases of infection caused by T. otitidis have been reported in the literature, but the pathogenic potential of this little-known bacterium remains controversial, particularly in acute and chronic otitis media. CLINICAL OBSERVATIONS: A retrospective study of T. otitidis isolated in the University Hospital of Montpellier in 2004 found T. otitidis in 13 patients. Among them, a 3-year-old girl had presented with acute and perforated otitis media and mastoiditis caused by T. otitidis, thereby confirming the pathogenic effect of this bacterium. CONCLUSION: T. otitidis is relatively frequently isolated from middle ear samples in healthy patients. However, T. otitidis has been implicated in serious cases of infection and should be considered an opportunistic pathogen. Its clinical significance can be difficult to establish and each case should be carefully interpreted. From a bacteriological point of view, T. otitidis should be precisely identified to obtain more information regarding its role in clinical pathology.


Assuntos
Infecções por Bactérias Gram-Positivas/microbiologia , Mastoidite/microbiologia , Otite Média/microbiologia , Actinobacteria/isolamento & purificação , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
9.
Arch Pediatr ; 15(7): 1193-6, 2008 Jul.
Artigo em Francês | MEDLINE | ID: mdl-18508249

RESUMO

Henoch-Schönlein purpura (HSP) is an IgA mediated vasculitis that affects small vessels. In this condition, arterial hypertension is most often linked with renal involvement, but it can also occur in the absence of urinary abnormalities. We report the case of a 12-year-old girl who presented with HSP and hypertension in the absence of renal involvement. Hypertension responded to oral therapy with nicardipine, and disappeared after healing of the disease. In the case of hypertension during HSP in the absence of renal involvement, other causes of childhood's arterial hypertension have to be ruled out.


Assuntos
Vasculite por IgA/complicações , Anti-Hipertensivos/administração & dosagem , Anti-Hipertensivos/uso terapêutico , Criança , Eletrocardiografia Ambulatorial , Feminino , Seguimentos , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/etiologia , Vasculite por IgA/diagnóstico , Nicardipino/administração & dosagem , Nicardipino/uso terapêutico , Fatores de Tempo , Resultado do Tratamento
10.
Cell Mol Life Sci ; 64(7-8): 947-60, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17347796

RESUMO

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, ataxia, seizures, EEG abnormalities and bouts of inappropriate laughter. AS individuals fail to inherit a normal active maternal copy of ubiquitin protein ligase E3A (UBE3A). UBE3A is subject to genomic imprinting, with predominant transcription of the maternal allele in brain. The known genetic causes of AS are maternal deletion of chromosome 15q11-q13, paternal chromosome 15 uniparental disomy, UBE3A mutation and an abnormality of the imprinting process, termed imprinting defect. There remain major questions concerning the molecular pathogenesis of AS, including: 1) the mechanisms underlying the imprinting defect class of AS, 2) the identity of proteins targeted by UBE3A, 3) the role of a noncoding antisense transcript in regulating UBE3A imprinting and 4) the contribution of other genes such as methyl-binding CpG-binding protein 2 and gamma-aminobutyric acid A receptor, subunit beta3 to the AS phenotype.


Assuntos
Síndrome de Angelman/genética , Ubiquitina-Proteína Ligases/genética , Síndrome de Angelman/diagnóstico , Animais , Transtorno Autístico/genética , Transtorno Autístico/metabolismo , Encéfalo/metabolismo , Epigênese Genética , Impressão Genômica , Humanos , Síndrome de Prader-Willi/genética , RNA Antissenso/metabolismo , Técnicas de Reprodução Assistida/efeitos adversos
11.
Arch Pediatr ; 13(2): 130-9, 2006 Feb.
Artigo em Francês | MEDLINE | ID: mdl-16364613

RESUMO

OBJECTIVE: To evaluate Quality of life (QoL) of HIV-infected children under highly active antiretroviral therapies, and its change over 18 months. MATERIALS AND METHODS: QoL was evaluated by self-administred questionnaires (french versions of AUQUEI, OK-ado, and compilation of both) in 23 young living with HIV/AIDS (6-15 yrs), under antiretroviral multitherapies, and re-evaluated 18 months later in 19 of them. RESULTS: At baseline, QoL in HIV-infected children-adolescents was relatively good. The answers given to each items and the mean score from infected children were similar to those obtained in uninfected healthy children. Moreover, infected adolescents distinguished definitly from healthy adolescents, describing higher QoL. The mean satisfaction score from the whole group decreased between M0 and M18 (mainly in the youngests), and mainly concerned 3 fields (self-esteem, health and school) while their somatic health remained stable or improved. An effect of the familial context was also observed for these 3 fields. CONCLUSION: The progressive decline of QoL in HIV-infected children, and the surprising high and steady level of satisfaction over-time provided by the adolescents, underlined the frailty of this population and the need for a psychologic management associated to the medical follow-up. Such a multidisciplinary approach should take into account the preoccupations and difficulties of each age-class, those linked to the diagnosis itself, and to the familial or scolar contexts, in order to preserve QoL of this pediatric population, as far as possible, in a long term.


Assuntos
Terapia Antirretroviral de Alta Atividade , Infecções por HIV/tratamento farmacológico , Infecções por HIV/psicologia , Qualidade de Vida , Adolescente , Criança , Seguimentos , França , Humanos , Inquéritos e Questionários
12.
Arch Pediatr ; 12 Suppl 1: S54-7, 2005 Apr.
Artigo em Francês | MEDLINE | ID: mdl-15893240

RESUMO

OBJECTIVES AND METHOD: To assess the management of pleural empyema in pediatric from a medical and surgical experience and a review of the literature. STUDY: Fifty-eight cases were reviewed from January 98 to December 2003. 62.6% have already received antibiotherapy. Forty-three percent of cases were less than three years old. Initial cultures identified Streptococcus pneumoniae in 39%, Streptococcus pyogenes in 5.6%, Mycoplasma pneumoniae and Staphylococcus aureus in only one case and were negative in 47%. A primitive or second-line thoracoscopy were used for drainage in two-third of the cases and mainly 6.95 days after admission. Located pleural empyema and major collected volume were the main indications for thoracoscopy. Three cases have been converted into open thoracotomy. One death occurred in an immunocompromised child. All patients were well at last follow-up. DISCUSSION: The frequency of parapneumonic empyema has increased since ten years. Progress of echography and endoscopy changed their management. Antibiotics have to be effective against pneumococcal infection. Chest tube drainage is necessary to assure the lung reexpansion in case of fibropurulent collection. The difficulty is to optimise the time of video-assisted thoracoscopy (VAT) using predictive criteria as loculations and pneumatoceles. VAT allowed the aspiration of pleural fluid and removing of fibrinous loculations. Moreover VAT achieved optimal adhesiolysis and the irrigation or decortication of the pleural cavity. VAT minimized duration of stay, of chest tube drainage and the indications of thoracotomy.


Assuntos
Empiema Pleural/tratamento farmacológico , Empiema Pleural/cirurgia , Antibacterianos/uso terapêutico , Criança , Drenagem , Empiema Pleural/epidemiologia , Empiema Pleural/patologia , Endoscopia , França/epidemiologia , Humanos , Incidência , Estudos Retrospectivos , Cirurgia Torácica Vídeoassistida , Toracotomia
13.
Arch Pediatr ; 12(1): 23-7, 2005 Jan.
Artigo em Francês | MEDLINE | ID: mdl-15653050

RESUMO

OBJECTIVES: Epidemiological state of salmonella infections in Languedoc-Roussillon (France) and discussion of therapeutic indications. MATERIAL AND METHOD: Retrospective study over a four-year period of paediatric salmonella infections requiring hospitalisation in Montpellier University Hospital. Analysis of clinical, bacteriological, laboratory and therapeutic data. RESULTS: One hundred and sixty nine cases of paediatric salmonella infections have been investigated. The clinical triad consisted of diarrhea, abdominal pain and fever. Six severe cases have been observed and seemed to have been independent of patient's background. Laboratory findings showed inconstantly hyperleucocytosis and increase in CRP levels. Stool analysis remained the reference laboratory test to detect salmonella. Two major strains of salmonella have been identified: Salmonella enterica subsp. enterica serovar Typhimurium and Enteriditis. Treatments have been essentially symptomatic but 20% of the children (n=34) required antibiotic therapy. A favourable outcome was observed in all the children. DISCUSSION: Incidence of salmonella infections is increasing in France, particularly in the Languedoc-Roussillon area. Diagnosis of mild forms is generally easy but certain patient background seems to expose to severe forms. Treatment of salmonella infections is mainly symptomatic, only severe or specific cases (young age, immunodepression...) requiring antibiotic treatment. The growing antibiotic use and the increasing of resistance are currently the main problems in the management of salmonella infections. Those infections remain a public health problem in Languedoc-Roussillon.


Assuntos
Infecções por Salmonella , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Estudos Retrospectivos , Infecções por Salmonella/diagnóstico , Infecções por Salmonella/tratamento farmacológico , Infecções por Salmonella/microbiologia , Fatores de Tempo
14.
Ann Dermatol Venereol ; 132(12 Pt 1): 966-9, 2005 Dec.
Artigo em Francês | MEDLINE | ID: mdl-16446638

RESUMO

INTRODUCTION: Eruptive pseudoangiomatosis was first described in children in the form of an acute non-pruritic macular or papular rash that fades on application of a glass test and resolves within several days. Viral aetiology is suspected but has never been demonstrated to date. OBSERVATIONS: We discuss seven cases of infants presenting this disease: 5 boys and 2 girls aged 8 days to 16 months. The rash presented typical clinical features in all cases and affected the face and limbs in 6 of the 7 subjects. In one child, involvement of the face and back was observed with sparing of the limbs. The rash occurred after an episode of rhinolaryngeal infection in 3 cases and after gastrointestinal infection in 1 case. Spontaneous resolution was seen within 3 to 10 days in 6 patients although a longer course lasting over 9 months was observed in one infant. In another patient, the rash appeared after surgery for mesoblastic nephroma. In one child, a similar rash was seen in both parents. Screening for infectious agents was negative for the two children from whom samples were obtained. DISCUSSION: This series of paediatric cases of eruptive pseudoangiomatosis is characterised by the very young age of one of the children, coexistence of the condition with a renal tumour in another child, the familial nature of the rash in a third child and unusually long disease duration in the final child. However, this series did not allow identification of the causative infectious agent or agents. Probably, as with other syndromes such as Giannotti-Crosti syndrome or "gloves and socks" syndrome, eruptive pseudoangiomatosis forms a clinical picture common to a non-specific viral infection.


Assuntos
Angiomatose/diagnóstico , Exantema/diagnóstico , Idade de Início , Angiomatose/patologia , Diagnóstico Diferencial , Exantema/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido , Masculino , Dermatopatias Papuloescamosas/diagnóstico , Dermatopatias Papuloescamosas/patologia , Dermatopatias Virais/diagnóstico , Dermatopatias Virais/patologia
15.
Arch Pediatr ; 9(1): 45-8, 2002 Jan.
Artigo em Francês | MEDLINE | ID: mdl-11865550

RESUMO

UNLABELLED: Group B III streptococcus (GBS) is a predominant pathogen in neonates in France. Relapse is rare and two successive relapses are exceptional: only three cases have been yet reported. CASE REPORT: A newborn infant of 18 days of age presented a first episode of invasive group B III streptococcal infection with meningitis and ventriculitis. At 53 days of age, a second episode with bacteriemia and parotidis appeared. At 63 days of age, she presented a third episode with meningitis. Genome analysis of the three bacterial strains isolated during the three episodes showed the same clonal origin. COMMENTS: We discuss the incidence of the treatment, the eventual presence of a penicillin-tolerant GBS, the possible relapse or recurrence of the pathogen and the role of the relative immunodeficiency in infant.


Assuntos
Infecções Estreptocócicas , Streptococcus agalactiae , Fatores Etários , DNA Bacteriano/análise , Eletroforese em Gel de Campo Pulsado , Feminino , Humanos , Lactente , Recém-Nascido , Meningites Bacterianas/etiologia , Parotidite/etiologia , Recidiva , Streptococcus agalactiae/genética , Fatores de Tempo
16.
Genomics ; 76(1-3): 66-72, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11549318

RESUMO

Protocadherins are members of a nonclassic subfamily of calcium-dependent cell-cell adhesion molecules in the cadherin superfamily. Although the extracellular domains have several common structural features, there is no extensive homology between the cytoplasmic domains of protocadherin subfamily members. We have identified a new subclass of protocadherins based on a shared and highly conserved 17-amino-acid cytoplasmic motif. The subclass currently consists of 18 protocadherin members. Two of these, PCDH18 and PCDH19, are novel protocadherins and a third is the human orthologue of mouse Pcdh10. All three genes encode six ectodomain repeats with cadherin-like attributes and, consistent with the structural characteristics of protocadherins, a large first exon encodes the extracellular domain of each gene.


Assuntos
Caderinas/química , Caderinas/isolamento & purificação , Sequência de Aminoácidos , Animais , Caderinas/genética , Mapeamento Cromossômico/métodos , Sequência Conservada/genética , Citoplasma/química , Perfilação da Expressão Gênica , Ordem dos Genes , Humanos , Camundongos , Dados de Sequência Molecular , Especificidade de Órgãos/genética , Peptídeos/genética , Protocaderinas , Ratos , Análise de Sequência de DNA/métodos , Suínos , Cromossomo X/genética , Xenopus laevis , Peixe-Zebra
19.
Methods Mol Biol ; 181: 181-92, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-12843450

RESUMO

Chromosome replication banding studies show that homologous regions on a pair of autosomes generally replicate at the same time in S phase (1). Izumikawa et al. first observed that this was not the case for the imprinted chromosomal region 15q11-q13 (2). This observation has been confirmed in other replication banding studies (3) as well by the fluorescence in situ hybridization (FISH) replication assay (4-9). The latter technique has also been used to observe DNA replication asynchrony in association with allelic inactivation of genes such as those encoding olfactory receptors and the cytokine, interleukin 2 (10,11). The latter genes are not imprinted but display random silencing of an allele in individual cells. In imprinted regions, DNA replication was generally observed to occur earlier on the paternal homologue (5,6,9,12,13). The patterns of allele-specific replication in the cells of Prader- Willi (PWS) and Angelman syndrome (AS) patients, however, have generally been synchronous (5,6,14). Furthermore, an investigation of the kinetics of allele-specific replication timing in the GABRB3/A5 cluster on 15q11-13 revealed that cells from PWS and AS have lost the strict replication timing observed on the parental chromosomes of normal cells (12). These results suggested the requirement of a biparental contribution for the regulation of replication asynchrony and lead to the hypothesis that allelic cross-talk, perhaps via pairing of homologous chromosomes, might play a role in the imprinting process.


Assuntos
Alelos , Replicação do DNA/genética , Citometria de Fluxo/métodos , Impressão Genômica/genética , Hibridização in Situ Fluorescente/métodos , Animais , Células Cultivadas , Humanos
20.
Proc Natl Acad Sci U S A ; 97(26): 14311-6, 2000 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-11106375

RESUMO

We have identified three C/D-box small nucleolar RNAs (snoRNAs) and one H/ACA-box snoRNA in mouse and human. In mice, all four snoRNAs (MBII-13, MBII-52, MBII-85, and MBI-36) are exclusively expressed in the brain, unlike all other known snoRNAs. Two of the human RNA orthologues (HBII-52 and HBI-36) share this expression pattern, and the remainder, HBII-13 and HBII-85, are prevalently expressed in that tissue. In mice and humans, the brain-specific H/ACA box snoRNA (MBI-36 and HBI-36, respectively) is intron-encoded in the brain-specific serotonin 2C receptor gene. The three human C/D box snoRNAs map to chromosome 15q11-q13, within a region implicated in the Prader-Willi syndrome (PWS), which is a neurogenetic disease resulting from a deficiency of paternal gene expression. Unlike other C/D box snoRNAs, two snoRNAs, HBII-52 and HBII-85, are encoded in a tandemly repeated array of 47 or 24 units, respectively. In mouse the homologue of HBII-52 is processed from intronic portions of the tandem repeats. Interestingly, these snoRNAs were absent from the cortex of a patient with PWS and from a PWS mouse model, demonstrating their paternal imprinting status and pointing to their potential role in the etiology of PWS. Despite displaying hallmarks of the two families of ubiquitous snoRNAs that guide 2'-O-ribose methylation and pseudouridylation of rRNA, respectively, they lack any telltale rRNA complementarity. Instead, brain-specific C/D box snoRNA HBII-52 has an 18-nt phylogenetically conserved complementarity to a critical segment of serotonin 2C receptor mRNA, pointing to a potential role in the processing of this mRNA.


Assuntos
Encéfalo/metabolismo , Impressão Genômica , RNA Nucleolar Pequeno , Animais , Sequência de Bases , Linhagem Celular , Mapeamento Cromossômico , DNA Complementar , Humanos , Camundongos , Dados de Sequência Molecular , Ratos , Sequências de Repetição em Tandem , Distribuição Tecidual
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA