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1.
Arch Pediatr ; 31(4): 238-244, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38679547

RESUMO

BACKGROUND: Recurrent genetic abnormalities affecting pivotal signaling pathways are the hallmark of childhood acute lymphoblastic leukemia (ALL). The identification of these aberrations remains clinically important. Therefore, we sought to determine the cytogenetic profile and the mutational status of TP53 and RAS genes among Moroccan childhood cases of ALL. METHODS: In total, 35 patients with childhood ALL were enrolled in the study. The diagnosis and treatment were established in the Pediatric Hematology and Oncology Center at the Children's Hospital of Rabat. Chromosome banding analysis and fluorescence in situ hybridization were used to detect genetic aberrations. Blood samples were screened for TP53 and RAS mutations using Sanger sequencing. RESULTS: Of the 35 cases, 30 were B-lineage ALL (85.7 %). Moreover, a male predominance was observed. Cytogenetic analysis revealed chromosomal anomalies in 27 cases (77.1 %). The most frequent aberrations were high hyperdiploidy and BCR/ABL rearrangement. Interestingly, we found the rare t(15;16) and the t(8;14), which are uncommon translocations in pediatric B-ALL. The mutational analysis revealed Pro72Arg (rs1042522:C > G) and Arg213Arg (rs1800372:A > G) in TP53. In correlation with cytogenetic data, rs1042522:C > G showed a significant association with the occurrence of chromosomal translocations (p = 0.04). However, no variant was detected in NRAS and KRAS genes. CONCLUSION: Our findings emphasize the significance of detecting chromosomal abnormalities as relevant prognostic markers. We also suggest a low occurrence of genetic variants among Moroccan children with ALL.


Assuntos
Aberrações Cromossômicas , Leucemia-Linfoma Linfoblástico de Células Precursoras , Proteína Supressora de Tumor p53 , Humanos , Masculino , Marrocos , Feminino , Criança , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Pré-Escolar , Lactente , Proteína Supressora de Tumor p53/genética , Adolescente , Genes ras/genética , Mutação , Genes p53/genética
2.
Cytogenet Genome Res ; 153(2): 66-72, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29248929

RESUMO

Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes.


Assuntos
Anormalidades Múltiplas/genética , Arilsulfatases/genética , Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Perda Auditiva Bilateral/genética , Perda Auditiva Neurossensorial/genética , Translocação Genética , Arilsulfatases/deficiência , Cromossomos Humanos X/ultraestrutura , Cromossomos Humanos Y/ultraestrutura , Consanguinidade , Feminino , Humanos , Hipertelorismo/genética , Recém-Nascido , Cariotipagem , Masculino , Pessoa de Meia-Idade , Marrocos , Linhagem , Fenótipo , Rádio (Anatomia)/anormalidades , Escoliose/genética , Irmãos , Ulna/anormalidades , Adulto Jovem
3.
Pan Afr Med J ; 27: 273, 2017.
Artigo em Francês | MEDLINE | ID: mdl-29187942

RESUMO

Double aortic arch is a rare anomaly of the aortic arch. It is due to the absence of involution of the caudal dorsal aorta. The disease usually begins to show itself in very early clinical signs, already detectable in the neonatal period. Angiography is of great interest to its diagnosis as well as to the choice of the therapeutic approach. Only surgical treatment allows to eliminate tracheoesophageal compression. Surgical mortality rate is low thanks to the progress of postoperative resuscitation. We here report two cases of double aortic arch in order to highlight the contribution of imaging in the difficult diagnosis of this anomaly.


Assuntos
Angiografia/métodos , Aorta Torácica/anormalidades , Anel Vascular/diagnóstico por imagem , Aorta Torácica/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Anel Vascular/cirurgia
4.
Eur J Dermatol ; 18(5): 561-5, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18693161

RESUMO

Hypersensitivity to cyclooxygenase (COX) inhibitors is rare in children. We studied 164 children reporting 213 reactions to paracetamol, ibuprofen and/or acetylsalicylic acid (ASA). Most reactions were cutaneous, either isolated or associated with respiratory symptoms and/or anaphylaxis. Based on a convincing clinical history or positive responses in challenges with the drug(s), hypersensitivity to one or several drug(s) was diagnosed in 49.4% of the children (60, 76.5 and 23.2% of the children reporting reactions to ASA, ibuprofen and paracetamol respectively). Cross-reactivity between nonsteroidal anti-inflammatory drugs (NSAIDs) was frequent (69.1%), but only 10.6% of the NSAID-sensitive children reacted to paracetamol. In contrast, all paracetamol-sensitive children reacted to NSAIDs. Anaphylaxis, immediate and accelerated reactions, atopy, older age and chronic/recurrent urticaria were risk factors for hypersensitivity and/or cross-reactivity between ASA, ibuprofen and paracetamol. In conclusion, hypersensitivity to COX inhibitors was frequent, especially in children reporting severe and/or immediate and accelerated reactions, and in older and atopic children. Cross-reactivity was frequent, suggesting that most reactions resulted from a non allergic hypersensitivity linked to the pharmacological properties of the drugs. However, in a few children, the reactions may result from allergic hypersensitivity to selective (families of) drugs, with tolerance to other drugs.


Assuntos
Acetaminofen/efeitos adversos , Aspirina/efeitos adversos , Inibidores de Ciclo-Oxigenase/efeitos adversos , Toxidermias/diagnóstico , Toxidermias/etiologia , Hipersensibilidade a Drogas/diagnóstico , Hipersensibilidade a Drogas/etiologia , Ibuprofeno/administração & dosagem , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Fatores de Risco
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