RESUMO
BACKGROUND: Usually sporadic, pheochromocytoma can, on occasion, complicate genetic disorders, such as neurofibromatosis 1, von Hippel-Lindau disease, and multiple endocrine neoplasia 2; some families seem to have just pheochromocytoma, where it may have occurred by chance. The natural history of a large kindred believed to have an excess of pheochromocytoma 34 years ago was followed with the hypothesis that the predisposition was, in fact, present and that family education and surveillance would decrease mortality. METHODS: Prospective observation and diagnostic surveillance for pheochromocytoma were conducted on the inception cohort, defined as three branches of the kindred in 1960. Of 619 descendants of three (of 11) siblings of German origin, 333 were evaluated in person at least once in the three decades of surveillance. No pheochromocytomas were known to have occurred in the eight other branches. A total of 522 persons from the 11 branches were evaluated. RESULTS: Five of the eight initial patients with pheochromocytoma died of cardiovascular complications attributable to the tumor. In follow-up, eight additional relatives were newly diagnosed with pheochromocytomas (at an average age of 19 years), and others had additional or recurrent pheochromocytomas, meningioma, para-adrenal paraganglioma, and a functioning glomus vagale; none died. CONCLUSIONS: A continuing excess of pheochromocytoma seems present in the family. Whether the incompletely penetrant gene in this family is allelic to the von Hippel-Lindau gene on chromosome 3 or is a distinct locus remains to be resolved with molecular studies. Meanwhile, education and surveillance seem to decrease mortality from pheochromocytoma in this family.
Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Alelos , Feocromocitoma/genética , Doença de von Hippel-Lindau/genética , Adolescente , Neoplasias das Glândulas Suprarrenais/complicações , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Feocromocitoma/complicações , Estudos Prospectivos , Doença de von Hippel-Lindau/complicaçõesRESUMO
OBJECTIVE: The aim of this retrospective study was to assess the impact of immunosuppressive drugs (ISD) on pregnancy outcome in women with systemic lupus erythematosus (SLE). METHODS: Pregnancy outcome, disease manifestations, and medication use were ascertained by interview and review of the medical record. Three hundred thirty-four (88%) of 380 consecutive women with lupus seen during 1979-1989 at the Lupus Diagnostic and Treatment Center at the University of Pittsburgh participated in this study. RESULTS: Adverse pregnancy outcomes were noted in 59 of 113 (52%) pregnancies in patients with pregnancies after diagnosis of SLE and no exposure to ISD (Group 1) and in 10 of 23 (43%) pregnancies in patients with pregnancies after diagnosis of SLE and with ISD use prior to or during pregnancy (Group 2). Only 3 of 23 or 13% pregnancies in Group 2 resulted in a fetal or neonatal loss compared to 27% in Group 1 (NS). No history of malignancy has been noted in the longterm followup of the surviving children in Group 2 (current mean age is 6.1 years, range 1.5-13 years). CONCLUSIONS: Although overall survival was encouraging in Group 2, questions remain about the safety and longterm mutagenic effects of ISD in women with SLE. Judicious use of these medications prior to or during pregnancy is warranted.
Assuntos
Imunossupressores/uso terapêutico , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Resultado da Gravidez , Aborto Espontâneo/epidemiologia , Adolescente , Adulto , Azatioprina/efeitos adversos , Azatioprina/uso terapêutico , Ciclofosfamida/efeitos adversos , Ciclofosfamida/uso terapêutico , Feminino , Morte Fetal/epidemiologia , Humanos , Imunossupressores/efeitos adversos , Incidência , Lúpus Eritematoso Sistêmico/epidemiologia , Metotrexato/efeitos adversos , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Trabalho de Parto Prematuro/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Estudos RetrospectivosRESUMO
The combined use of amphotericin B and 5-fluorocytosine in the treatment of two children with Candida albicans meningitis is described. Therapy consisted of nine to 13 days of iv amphotericin B, combined with, or followed by six to nine weeks of oral 5-FC. Each organism was sensitive to 5-FC before starting therapy. Resistance did not develop during therapy. CSF administration was not necessary and toxic reactions were minimal and transient; neither patient has suffered a recurrence four years and 14 months, respectively, after discontinuance of therapy. The combination of short-term therapy with iv amphotericin B plus long-term oral 5-FC was successful in these two patients.