Diffusion of information about genetic risk within families

Recent developments in genetics are likely to exacerbate the ethical issues in clinical practice, especially with regard to privacy and disclosure of genetic information. To evaluate the behaviour of patients with respect to transmitting carrier information, we undertook a survey of 283 families with a balanced chromosomal rearrangement as a model. In these families, 1816 relatives were considered at risk and 806 of them were karyotyped (44.4%). The percentage of karyotypes performed is significantly related to the number of living children of the index couple, the reason for referral, the nature of the anomaly, the training of the counsellor and the age of the index case. This study shows the limits of the screening of at risk individuals within families, based on the willingness of the patients, and addresses practical and ethical issues around family disclosure in medical genetics.     

Report of 2 new cases of bladder inverted papilloma, one with them complicated with acute urinary obstruction

Inverted papilloma is a rare tumour (2.2% of urothelial tumours) considered to be benign. The bladder is the most frequent site and growth tends to be endophytic towards the submucosa. Haematuria and obstruction symptoms appear to be the most typical clinical manifestations. Contribution of two cases of inverted bladder papilloma; one showing very unusual clinical development with relapsing acute urinary obstruction. Strict follow-up is recommended in spite of its benign behaviour as it may become associated to transitional cell carcinoma. Literature review on this tumoral entity in terms of etiology, clinical manifestations, diagnosis and treatment.     

A randomized trial comparing 35Gy in ten fractions with 60Gy in 30 fractions of cerebral irradiation for glioblastoma multiforme and older patients with anaplastic astrocytoma.

A randomized prospective clinical trial was conducted to compare conventional high dose radiotherapy with hypofractionated, short course radiotherapy in poor prognosis patients with high grade glioma. The primary endpoint was overall survival.     

AUTOPSY FINDINGS IN THE WOLCOTT-RALLISON SYNDROME

Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. To date, nine cases have been described in the world literature. We report an affected girl who died at the age of 4 years and on whom a full autopsy was performed. In addition to neonatal diabetes mellitus and epiphyseal dysplasia, this child had mental retardation and recurrent episodes of self-limiting hepatic failure. Autopsy revealed severe pancreatic hypoplasia and markedly abnormal pancreatic histology, while histology of the bone was consistent with epiphyseal dysplasia. There was laryngeal stenosis and pulmonary hypoplasia. The heart was enlarged with mitral valve dysplasia and stenosis, left atrial dilatation, left ventricular hypertrophy, and endocardial fibroelastosis. Examination of the central nervous system showed arrhinencephaly and cerebellar cortical dysplasia. The liver showed minor histological abnormalities but no features were present to account for the recurrent hepatic failure. In addition to Wolcott-Rallison syndrome this child had a deletion at 15q11-12 in 65 of her cells.     

Evaluation of sexual misconduct complaints: The Oregon Board of Medical Examiners, 1991 to 1995

OBJECTIVE: In 1991 the Oregon Board of Medical Examiners initiated a separate category for the complaint of sexual misconduct. Investigated complaints of sexual misconduct brought to the Oregon Board of Medical Examiners were analyzed for the years 1991 to 1995 to serve as a baseline. Comparison was made to the Federation of State Medical Boards sexual misconduct data for 1991 and 1992.STUDY DESIGN: One hundred complaints brought against 80 licensees were evaluated by practitioner's degree, age group, sex, specialty, and disposition of complaints for the years 1991 to 1995. The allegations were classified into behavior categories of sexual impropriety, sexual transgression, and sexual violations.RESULTS: Sexual misconduct was the allegation in 5.9% of the complaints investigated for the study period. Oregon had more sexual misconduct complaints than the average reported to the Federation of State Medical Boards for the years 1991 and 1992. Most (72%) complaints came from the patients or their families. Two female physicians (2.4%) had sexual boundary complaints. Sexual misconduct complaints increased by a risk ratio of 1.44 with advancing age by decades. Allegations classified into behavior categories according to severity revealed 39% sexual impropriety, 31% sexual transgression, and 30% sexual violation. Reportable disciplinary actions occurred only with multiple allegations of sexual impropriety (6.5%) and for sexual transgression (27%) whereas sexual violation allegations often had one complainant but there were 54% reportable disciplinary actions. Family practice, obstetrics and gynecology, and psychiatry had the highest incidence of sexual misconduct complaints whereas psychiatry and obstetrics and gynecology had the highest incidence of reportable disciplinary actions. Twenty-five percent of the closed cases resulted in reportable disciplinary actions. This analysis is discussed in relationship to legal and ethical issues and the goal of zero tolerance.CONCLUSIONS: Oregon has a higher percentage of sexual misconduct complaints than the average for 42 states reporting to the Federation of State Medical Boards for the years 1991 and 1992. Analysis of the Oregon Board's experience for the study years will provide a baseline for future evaluation and as an educational resource for the Oregon Board of Medical Examiners and professional and specialty societies. Ethical standards, the reporting and investigative processes, and the legal framework are in place and lessen the incidence of sexual misconduct and work toward zero tolerance. (Am J Obstet Gynecol 1997;176:1340-8.)     

Fibrosarcoma in Children: A Rare Tumour with Long-Term Survival even with Advanced Disease A Report of 3 Cases

Fibrosarcoma is a rare tumour in children. The potential of malignancy has been questioned. We present three cases of fibrosarcoma in children. The follow-up periods range from 10 to 37 years. The first patient had pulmonary metastases at the time of diagnosis in 1958. The primary tumour in fossa ischio-rectalis was resected in 1960. Lung metastases were resected in 1960 and 1989. Radiotherapy was given in 1992. He is still alive with metastases 37 years after the first manifestation of disease. The second patient had a primary tumour and several local recurrences in the mandible. He is alive without evidence of disease 4 years after resection of pulmonary metastases and 21 years after resection of the primary tumour. The third patient has no signs of recurrence or metastasic spread 10 years after a wide excision of subcutanous tumours of the left upper arm. The cases demonstrate a special tumour-entity of low-grade malignancy, which show a good prognosis and a wide spectrum of biological behaviour.