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1.
Cureus ; 15(11): e48946, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38111398

RESUMO

A 46,XX male represents a variant of Klinefelter syndrome (47,XXY), under the category of a disorder of sex development (DSD). Despite possessing an XX karyotype, these individuals exhibit a male phenotype, which, in this case, results from a translocation of the SRY gene from the Y chromosome onto the X chromosome. This genetic alteration results in the development of male gonadal characteristics. This case report outlines a prenatal diagnosis of a 46,XX female in conflict with a level 2 ultrasound. It details the patient's presentation, diagnosis of an SRY-positive 46,XX male, and medical history. The discussion focuses on the advantages of early identification and intervention in managing symptom progression and addressing fertility challenges through hormone replacement therapy. Further exploration of 46,XX DSD early detection and the underlying mechanisms is essential for refining diagnostic and therapeutic approaches that result in a greater quality of life for these patients.

2.
Pediatr Pulmonol ; 35(6): 484-9, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12746948

RESUMO

The objective of the Registry was to characterize the population of infants receiving prophylaxis for respiratory syncytial virus (RSV) disease by describing the patterns and scope of usage of palivizumab in a cross section of US infants. RSV hospitalization outcomes were also described. The Palivizumab (Synagis, MedImmune, Inc., 25 West Watkins Mill Road, Gaithersburg, MD 20878) Outcomes Registry was a prospective multicenter survey conducted at 63 sites. Demographics, injection history, and RSV hospitalization outcomes were collected on 2,116 infants receiving palivizumab. Infants were enrolled in the Registry between September 1, 2000-March 1, 2001, at the time of their first injection. Infants born at less than 32 weeks of gestation accounted for 47% of infants enrolled, and those between 32-35 weeks accounted for 45%; approximately 8% were greater than 35 weeks of gestation. Lower RSV hospitalization rates were observed in infants who had greater adherence to regularly scheduled injections. Nearly one-half of all hospitalizations occurred within the first and second injection intervals, suggesting the importance of early RSV protection. The confirmed RSV hospitalization rate of all infants in the Registry was 2.9%; the rate was 5.8% in infants with chronic lung disease of infancy, and 2.1% in premature infants without chronic lung disease. In conclusion, these data support the continued effectiveness of palivizumab prophylaxis for severe RSV lower respiratory tract disease in a large cohort of high-risk infants from geographically diverse pediatric offices and clinics. The Palivizumab Outcomes Registry provides an opportunity to assess palivizumab utilization and clinical effectiveness in the US.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Antivirais/uso terapêutico , Infecções por Vírus Respiratório Sincicial/prevenção & controle , Anticorpos Monoclonais Humanizados , Feminino , Hospitalização , Humanos , Lactente , Masculino , Palivizumab , Estudos Prospectivos , Sistema de Registros , Infecções por Vírus Respiratório Sincicial/tratamento farmacológico , Fatores de Risco , Resultado do Tratamento
3.
J Am Osteopath Assoc ; 111(10 Suppl 6): S17-9, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22086889

RESUMO

Meningococcal meningitis is a rare but often fatal disease. Throughout adolescence, the incidence of meningococcal meningitis increases, reaching a peak among individuals between the ages of 16 and 21 years. Vaccines are available to combat this deadly disease. Recently, the Centers for Disease Control and Prevention's Advisory Committee on Immunization Practices updated its recommendations on meningitis vaccination to improve outcomes and to prevent this disease in adolescents and other vulnerable populations, such as adults traveling internationally to epidemic areas. Improved meningitis vaccines and revised vaccination recommendations will help to create a healthier world.


Assuntos
Saúde Global , Programas de Imunização , Meningite Meningocócica/prevenção & controle , Vacinas Meningocócicas , Saúde Pública/métodos , Adolescente , Comitês Consultivos , Fatores Etários , Centers for Disease Control and Prevention, U.S. , Criança , Humanos , Meningite Meningocócica/epidemiologia , Neisseria meningitidis , Estados Unidos , Adulto Jovem
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