RESUMO
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by hypersensitivity of the skin and eyes to UV-radiation as a result of a defect in one of eight genes. Seven genes (XPA-XPG) have a defect in Nucletoide Excision Repair (NER), while the eighth gene XPV has a defect in polymerase η, which is responsible for replication of UV-damaged DNA to produce corrected daughter strands. We present the varied clinical courses of three African-American female patients with XP. Additionally, we present a review of the literature that focuses on the various clinical manifestations as well as the genetic and molecular mechanisms underlying this disease.
Assuntos
Dano ao DNA/genética , Reparo do DNA/fisiologia , Xeroderma Pigmentoso/patologia , Encéfalo/patologia , Criança , Pré-Escolar , Reparo do DNA/genética , Feminino , Humanos , Mutação/genética , Xeroderma Pigmentoso/diagnóstico , Xeroderma Pigmentoso/genéticaRESUMO
Studies indicate a close relationship between Yersinia and Crohn's disease in adults. Our study tested 77 colonic specimens from children with Crohn's disease for the presence of Yersinia DNA using a validated polymerase chain reaction (PCR) assay. Control cases included specimens from 45 ulcerative colitis patients and 10 appendicitis patients. The presence of Yersinia in Crohn's specimens was significant compared to the control specimens (9% vs. 0%; p = 0.0055). While our study supports the medical literature, future studies are needed to determine if the relationship between Crohn's disease and Yersinia is an initiating or mediating factor in the pathogenesis of pediatric Crohn's disease.
Assuntos
Doença de Crohn/microbiologia , Yersinia/isolamento & purificação , Yersinia/patogenicidade , Adolescente , Proteínas de Bactérias/genética , Estudos de Casos e Controles , Criança , DNA Bacteriano/genética , DNA Bacteriano/isolamento & purificação , Feminino , Genes Bacterianos , Humanos , Mucosa Intestinal/microbiologia , Masculino , Estudos Retrospectivos , Yersinia/genética , Yersinia enterocolitica/genética , Yersinia enterocolitica/isolamento & purificação , Yersinia enterocolitica/patogenicidade , Yersinia pseudotuberculosis/genética , Yersinia pseudotuberculosis/isolamento & purificação , Yersinia pseudotuberculosis/patogenicidade , Adulto JovemRESUMO
Nephrogenic rests (NR) are foci of embryonal renal tissue that persist beyond the normal period of renal morphogenesis. They are commonly found in kidneys bearing Wilms tumor but may also rarely occur in different locations. Nephrogenic rests have been reported in the lumbosacral area in a total of nine cases, including our case. Of the nine cases, only one case prior to ours showed agenesis of one kidney in association with the NR. We report a 2-year-old female with a lipomyelomeningocele containing NRs and agenesis of the right kidney and discuss the molecular genetic basis of lumbosacral NR.
Assuntos
Coristoma/patologia , Anormalidades Congênitas/patologia , Nefropatias/congênito , Rim , Meningomielocele/patologia , Pré-Escolar , Coristoma/complicações , Coristoma/cirurgia , Feminino , Humanos , Rim/anormalidades , Rim/patologia , Nefropatias/complicações , Nefropatias/patologia , Meningomielocele/complicações , Meningomielocele/cirurgia , Defeitos do Tubo Neural/patologia , Defeitos do Tubo Neural/cirurgia , Medula Espinal/anormalidades , Medula Espinal/cirurgiaRESUMO
Hematopoietic stem cell transplantation (HSCT) causes many complications including the development of graft-versus-host disease (GVHD). Pneumatosis intestinalis (PI), a rare side affect in patients with post-HSCT GVHD, is uncommonly seen in non-neonatal patients. In neonates, surgical intervention is common, yet in non-neonatal patients, medical management is advisable. We present four pediatric patients who post-HSCT developed GVHD and subsequently PI. Surgery was performed on one patient while the other three were successfully managed conservatively. Although PI is rare in this group of patients, clinicians should be aware of this post-HSCT complication to ensure early diagnosis and proper management.
Assuntos
Doença Enxerto-Hospedeiro/etiologia , Pneumatose Cistoide Intestinal/etiologia , Transplante de Células-Tronco/efeitos adversos , Transplante Homólogo , Adolescente , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Procedimentos Cirúrgicos do Sistema Digestório , Feminino , Doença Enxerto-Hospedeiro/diagnóstico , Doença Enxerto-Hospedeiro/terapia , Humanos , Lactente , Pneumatose Cistoide Intestinal/diagnóstico , Pneumatose Cistoide Intestinal/terapia , Complicações Pós-Operatórias , Resultado do TratamentoRESUMO
Fibrocartilaginous mesenchymoma is a rare osseous tumor that primarily arises in the long bones of children and adolescents. This lesion can grow quickly and reach a considerable size, despite its benign nature. It has proved challenging to diagnose and can be mistaken for a spectrum of benign and malignant bone tumors. The histological presentation of unique epiphyseal plate-like cartilage with destruction of the surrounding cortical bone and exhibition of dense fibrous stroma are important indicators for the diagnosis of fibrocartilaginous mesenchymoma. An 11-year-old boy presented with a left proximal humerus mass thought to be an aneurysmal bone cyst. The patient was lost to follow-up and came back 3 years later with massive growth of the lesion. Owing to the aggressive nature of the tumor, a left forequarter amputation was performed. Histological examination demonstrated numerous islands of cartilage with an exuberant spindle cell component characteristic of FCM. No distant metastases or local recurrences were identified at 2 years post-amputation. Because of the rapid growth of this lesion, it should be considered in the differential diagnosis of bone lesions in children and young adults.