RESUMO
We report a series of four unrelated adults with Smith-Magenis syndrome (SMS) and concomitant features of Birt-Hogg-Dubé (BHD) syndrome based upon haploinsufficiency for FLCN and characteristic renal cell carcinomas and/or evidence of cutaneous fibrofolliculomas. Three of the cases constitute the first known association of histopathologically verified characteristic BHD-associated renal tumors in adults with SMS; the fourth was identified to have histologically confirmed skin fibrofolliculomas. Molecular analysis documented second-hit FLCN mutations in two of the three cases with confirmed BHD renal pathology. These cases suggest the need to expand management recommendations for SMS to include kidney cancer surveillance starting at 20 years of age, as per the screening recommendations for BHD syndrome.
Assuntos
Síndrome de Birt-Hogg-Dubé , Carcinoma de Células Renais , Neoplasias Renais , Neoplasias Cutâneas , Síndrome de Smith-Magenis , Adulto , Humanos , Síndrome de Birt-Hogg-Dubé/complicações , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Smith-Magenis/complicações , Detecção Precoce de Câncer , Proteínas Proto-Oncogênicas/genética , Proteínas Supressoras de Tumor/genética , Neoplasias Renais/genética , Carcinoma de Células Renais/genética , Neoplasias Cutâneas/genéticaRESUMO
OBJECTIVE: This study examined predictors of readmission to a psychiatric inpatient unit of an urban children's hospital within 1 year of discharge among a racially diverse sample of youths. METHODS: The authors retrospectively analyzed 2 years of electronic health record data of inpatient psychiatric unit admissions (N=1,604). Multivariate logistic regression and random-effects multinomial logistic regression were used for analyses. RESULTS: The estimated odds ratios for any readmission within 1 year of discharge were significantly higher for Black youths, youths insured by Medicaid, and youths with a length of stay longer than 7 days. Factors remained strongly predictive when examining multiple readmissions versus no readmissions. CONCLUSIONS: Black youths, youths insured by Medicaid, and youths with longer stays were more likely than other youths to be readmitted. Findings suggest the need for interventions such as care coordination to target predictors of readmission and the need to examine inequities in the health care system.
