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1.
Pediatr Gastroenterol Hepatol Nutr ; 25(1): 70-78, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35087735

RESUMO

PURPOSE: Cholestasis resulting from cytomegalovirus (CMV)-induced hepatitis manifests in 40% of patients with a CMV infection. Ganciclovir treatment in children with CMV infections has proven to be highly effective. Until now, there are very few studies have identified predictive factors for liver biochemistry improvement after ganciclovir therapy. This study aimed to identify the predictors of liver biochemistry improvement in patients with CMV cholestasis after ganciclovir treatment. METHODS: A retrospective cohort study was conducted using medical records from Dr. Sardjito General Hospital Yogyakarta, Indonesia from 2013 to 2018. CMV cholestasis was confirmed based on serum CMV IgG and IgM positivity and/or blood and urine CMV antigenemia positivity. Incomplete medical records and other etiologies for cholestasis, such as biliary atresia, choledochal cyst, metabolic diseases, and Alagille syndrome, were excluded. Patient age at cholestasis diagnosis and ganciclovir treatment, duration of CMV cholestasis, history of prematurity, central nervous system involvement, and nutritional status were analyzed and presented as an odds ratio (OR) with a 95% confidence interval (95% CI). RESULTS: CMV cholestasis with ganciclovir therapy was found in 41 of 54 patients. Multivariate analysis showed that a shorter duration of CMV cholestasis (OR: 4.6, 95% CI: 1.00-21.07, p=0.04) was statistically significant for liver biochemistry improvement after 1 month of ganciclovir treatment. The remaining factors that were analyzed were not significant predictors of liver biochemistry improvement in patients with CMV cholestasis after ganciclovir treatment. CONCLUSION: A shorter duration of CMV cholestasis is the predictor of liver biochemistry improvement after 1 month gancyclovir treatment.

2.
Ann Med Surg (Lond) ; 74: 103315, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35096389

RESUMO

INTRODUCTION: and importance: A common gastrointestinal presentation of both COVID-19 and multisystem inflammatory syndrome in children (MIS-C) is acute abdominal pain, which sometimes mimics appendicitis. Literature describing children with COVID-19 infection and concurrent acute appendicitis is growing, and understanding these patients' clinical picture is necessary for their proper treatment. CASE PRESENTATION: We present a case series of six healthy children before they developed classic symptoms of appendicitis. At the same time, they were also found to have confirmed COVID-19. All patients had fever and right lower abdominal pain. Four of six children having Alvarado score above seven had surgical treatment, while the others only received systemic antibiotic and antiviral medication. Surgical results of two patients revealed perforated appendicitis. No mortality occurred among them. CLINICAL DISCUSSION: There is increasing recognition of gastrointestinal involvement in patients with COVID-19 and MIS-C. There are several postulates to explain appendicitis in COVID-19. First, inflammatory response is exaggerated in SARS-CoV-2 infected patients. Second, obstruction of the appendiceal lumen is caused by mesenteric adenopathy, which in turn, is caused by COVID-19 infection, not fecalith. Third, hyperinflammatory response in MIS-C triggers inflammation in appendix. CONCLUSION: Clinicians must recognize that abdominal pain with fever could be the presenting symptoms of COVID-19 with MIS-C. MIS-C, which has severe presentations with gastrointestinal manifestations and high mortality rate, should be considered as a differential diagnosis for a patient with appendicitis-like symptoms and a positive SARS-CoV-2 infection.

3.
Front Surg ; 8: 674382, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34113646

RESUMO

Background: Meckel diverticulum (MD) is the most common congenital anomaly of the intestines, with an incidence of 2% of the general population. It can present as various clinical features with complications and be life threatening if diagnosis is delayed and treatment late. Case Presentation: We report three pediatric cases with complicated MD: one female presented with small-bowel obstruction, one male with peritonitis, and one female with severe iron-deficiency anemia, without gross gastrointestinal bleeding nor any ectopic gastric mucosa. All patients underwent exploratory laparotomy, segmental small-bowel resection, and primary anastomosis. They successfully recovered and were uneventfully discharged on the fourth, seventh, and 10th postoperative days, respectively. Conclusions: MD can present with various complication spectrums, including small-bowel obstruction, peritonitis, and severe iron-deficiency anemia, which may cause difficulty in definitive diagnosis, particularly in children. Segmental small-bowel resection and primary anastomosis are effective surgical approaches and show good outcomes for MD patients.

4.
J Infect Dis ; 200 Suppl 1: S188-94, 2009 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-19821711

RESUMO

Globally, rotavirus is the leading cause of diarrhea-related hospitalizations and deaths among young children, but the burden of rotavirus disease in Indonesia is poorly documented. From January through December 2006, we conducted prospective surveillance (inpatient and outpatient) among children aged <5 years at 6 hospitals in 6 provinces of Indonesia, using standardized methodology. Of 2240 enrolled children hospitalized for diarrhea, 1345 (60%) were rotavirus positive. Of 176 children enrolled in outpatient clinics in 3 hospitals, 73 (41%) were rotavirus positive. Among children hospitalized for diarrhea, dehydration was more common among those who tested positive for rotavirus than among those who did not (91% vs 82%; P < .05), as was vomiting (86% vs 67%; P < .05). Children aged 6-23 months experienced 72% of all rotavirus episodes. Rotavirus prevalence increased slightly in the cool, dry season. The most commonly detected genotypes were G9 (30%) and P[6] (56%). G1P[6] and G9P[6] accounted for 34% and 21% of strains, respectively. A high proportion of genotype P[6] was detected, in combination with the common G types G1 and G9. Available rotavirus vaccines would likely be efficacious against the most common circulating strains, but continued monitoring of uncommon genotypes is needed.


Assuntos
Efeitos Psicossociais da Doença , Diarreia/epidemiologia , Infecções por Rotavirus/epidemiologia , Pré-Escolar , Genótipo , Humanos , Indonésia/epidemiologia , Lactente , Recém-Nascido , Rotavirus/classificação , Rotavirus/genética , Infecções por Rotavirus/virologia , Estações do Ano
5.
Eur J Hum Genet ; 24(6): 823-9, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26395553

RESUMO

Hirschsprung disease (HSCR) is a major cause of chronic constipation in children. HSCR can be caused by germline mutations in RET and EDNRB. Defining causality of the mutations identified is difficult and almost exclusively based on in silico predictions. Therefore, the reported frequency of pathogenic mutations might be overestimated. We combined mutation analysis with functional assays to determine the frequencies of proven pathogenic RET and EDNRB mutations in HSCR. We sequenced RET and EDNRB in 57 HSCR patients. The identified RET-coding variants were introduced into RET constructs and these were transfected into HEK293 cells to determine RET phosphorylation and activation via ERK. An exon trap experiment was performed to check a possible splice-site mutation. We identified eight rare RET-coding variants, one possible splice-site variant, but no rare EDNRB variants. Western blotting showed that three coding variants p.(Pr270Leu), p.(Ala756Val) and p.(Tyr1062Cys) resulted in lower activation of RET. Moreover, only two RET variants (p.(Ala756Val) and p.(Tyr1062Cys)) resulted in reduced ERK activation. Splice-site assays on c.1880-11A>G could not confirm its pathogenicity. Our data suggest that indeed almost half of the identified rare variants are proven pathogenic and that, hence, functional studies are essential for proper genetic counseling.


Assuntos
Doença de Hirschsprung/genética , Mutação de Sentido Incorreto , Proteínas Proto-Oncogênicas c-ret/genética , Receptor de Endotelina B/genética , Adolescente , Criança , Pré-Escolar , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Feminino , Aconselhamento Genético , Células HEK293 , Doença de Hirschsprung/diagnóstico , Humanos , Lactente , Masculino , Fosforilação , Processamento de Proteína Pós-Traducional , Proteínas Proto-Oncogênicas c-ret/metabolismo , Splicing de RNA
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