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2.
J Pediatr Adolesc Gynecol ; 32(1): 70-73, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30205160

RESUMO

BACKGROUND: A rare disorder of sex development is 45,X/46,XY mosaicism, which is phenotypically very heterogenous, ranging from normal male (or female) to that of genital ambiguity of varying degrees. CASE: We report a case of a neonate with 45,X/46,XY mosaicism and hydrocolpos, and we point out the dilemma and the difficulty in gender assignment. SUMMARY AND CONCLUSION: Gender assignment of cases with frank genital ambiguity is often difficult to be determined, because several factors have to be taken into consideration, such as genital appearance, anticipated urological and sexual function, capacity for future fertility, gonadal malignancy risk, and psychosocial factors. A multidisciplinary approach is definitely needed in the management of such cases.


Assuntos
Disgenesia Gonadal Mista/diagnóstico , Hidrocolpos/etiologia , Feminino , Identidade de Gênero , Genitália , Disgenesia Gonadal Mista/complicações , Disgenesia Gonadal Mista/terapia , Gônadas , Humanos , Recém-Nascido , Masculino , Mosaicismo , Desenvolvimento Sexual , Ultrassonografia/métodos
4.
PLoS One ; 10(7): e0133891, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26214830

RESUMO

INTRODUCTION: Rotavirus (RV) infection in neonatal age can be mild or even asymptomatic. Several studies have reported that RV is responsible for 31%-87% of pediatric nosocomial diarrhea and causes gastroenteritis outbreaks in pediatric and neonatal units. OBJECTIVES: Study clinical characteristics, genotypes and risk factors of RV infection in neonatal age. METHODS: A prospective study was conducted from April 2009 till April 2013 in the neonatal special care unit of the largest tertiary pediatric hospital of Greece. Fecal samples and epidemiological data were collected from each neonate with gastrointestinal symptoms. RV antigen was detected with a rapid immunochromatography test. RV positive samples were further genotyped with RT PCR and sequencing using specific VP7 and VP4 primers. RESULTS: Positive for RV were 126/415 samples (30.4%). Mean age of onset was 18 days. Seventy four cases (58%) were hospital acquired. Seasonality of RV infection did not differ significantly throughout the year with the exception of 4 outbreaks. Genotypes found during the study period were G4P[8] (58.7%), G1P[8] (14.7%), G12P[8] (9.3%), G3P[8] (9.3%), G12P[6] (5.3%), G9P[8] (1.3%) and G2P[4] (1.3%). RV cases presented with: diarrhea (81%), vomiting (26.2%), fever (34.9%), dehydration (28.6%), feeding intolerance (39.7%), weight loss (54%), whilst 19% of cases were asymptomatic. Comparing community with hospital acquired cases differences in clinical manifestations were found. CONCLUSIONS: Significant incidence of nosocomially transmitted RV infection in neonatal age including asymptomatic illness exists. Genotypes causing nosocomial outbreaks are not different from community strains. Circulating vaccines can be effective in prevention of nosocomial RV infection through herd immunity.


Assuntos
Infecção Hospitalar , Gastroenterite/epidemiologia , Gastroenterite/virologia , Infecções por Rotavirus/epidemiologia , Infecções por Rotavirus/virologia , Rotavirus/genética , Infecções Comunitárias Adquiridas , Feminino , Genótipo , Grécia/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , Estações do Ano , Centros de Atenção Terciária
5.
Eur J Pediatr ; 172(9): 1271-5, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23354788

RESUMO

UNLABELLED: Microvillus inclusion disease (MVID), a rare severe congenital enteropathy characterized by intracytoplasmic microvillous inclusions and variable brush border atrophy on intestinal epithelial cells histology, is associated with defective synthesis or abnormal function of the motor protein myosin Vb encoded by the MYO5B gene. Although MYO5B gene is expressed in all epithelial tissues, it is unclear so far whether organs other than intestine are affected in MVID patients. We report a case of an infant with MVID who presented liver dysfunction, hematuria, and Pneumocystis jiroveci pneumonia during the course of the disease. It is discussed whether extraintestinal manifestations in this patient are secondary consequences of MVID or might be features of the disease associated with altered MYO5B function. CONCLUSIONS: MVID is classically included in the differential diagnosis of congenital diarrhea of secretory type. Recent advances in our knowledge regarding the role of myosin Vb in the pathophysiology of MVID is expected to clarify the clinical spectrum of the disease and the possible primary involvement of organs other than intestine.


Assuntos
Hematúria/etiologia , Insuficiência Hepática/etiologia , Síndromes de Malabsorção/diagnóstico , Microvilosidades/patologia , Mucolipidoses/diagnóstico , Pneumocystis carinii/isolamento & purificação , Pneumonia por Pneumocystis/etiologia , Evolução Fatal , Feminino , Insuficiência Hepática/diagnóstico , Humanos , Recém-Nascido , Síndromes de Malabsorção/complicações , Mucolipidoses/complicações , Pneumonia por Pneumocystis/diagnóstico
6.
Pediatr Infect Dis J ; 31(5): 536-7, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22198826

RESUMO

Pasteurella multocida is usually transmitted by animal contact; however, in a significant proportion of cases, no animal exposure can be identified. Although vertical transmission has been identified in neonates, horizontal human-to-human spread has not been documented. A case of neonatal sepsis and meningitis resulting from horizontal transmission of P. multocida is described.


Assuntos
Meningites Bacterianas/transmissão , Infecções por Pasteurella/transmissão , Pasteurella multocida , Sepse/transmissão , Transmissão de Doença Infecciosa , Feminino , Humanos , Recém-Nascido , Meningites Bacterianas/diagnóstico , Meningites Bacterianas/microbiologia , Infecções por Pasteurella/diagnóstico , Infecções por Pasteurella/microbiologia , Pasteurella multocida/isolamento & purificação , Sepse/diagnóstico , Sepse/microbiologia
7.
J Hum Genet ; 55(11): 761-3, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20686492

RESUMO

Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the genetic background of a severe CHARGE/DiGeorge phenotype, we performed comparative genomic array hybridization in an infant carrier of a CHD7 mutation. The high-resolution comparative genomic array hybridization revealed interesting findings, including a deletion distal to the DiGeorge region and disruptions in other chromosomal regions of genes implicated in immunological and other functions possibly contributing to the patient's severe phenotype and early death.


Assuntos
Síndrome CHARGE , Hibridização Genômica Comparativa/métodos , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Síndrome de DiGeorge , Mutação/genética , Deleção de Sequência/genética , Síndrome CHARGE/genética , Síndrome CHARGE/imunologia , Síndrome CHARGE/patologia , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/imunologia , Síndrome de DiGeorge/patologia , Evolução Fatal , Humanos , Lactente , Masculino , Fenótipo , Proteínas/genética , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/imunologia , Imunodeficiência Combinada Severa/patologia
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