Biomedical subjects
Publications and source records attributed to V Houfflin.
A practical review of tumor markers, particularly CA125 is proposed. The questions are: what is the role of CA125 assay in cancer screening programs, can preoperative CA125 level predict the benign or malignant nature of an adnexal anomaly, can postoperative CA125 predict the quality of surgical resection of cancer of the ovary?
Caudal regression syndrome (CRS) is a rare malformative syndrome seen mainly in cases of maternal diabetes with poor metabolic control. Early detection by vaginal ultrasound is possible. The authors describe three cases of CRS, relating the characteristic ultrasound findings which include abrupt interruption of the spine at the dorsal or lumbar level and abnormal position of the lower limbs. The femur bones are fixed in a 'V' pattern, giving a typical 'Buddha's poise'.
We report three cases of caudal regression syndrome diagnosed in utero. Caudal regression syndrome (CRS) is a rare condition associating vertebral agenesia and urinary and digestive tract malformations. Pathogenesis is not clear but, as in our three cases, the CRS is often associated with poorly controlled maternal diabetes. Antenatal ultrasound examinations may reveal the disease in major forms with a non-viable foetus. In our 3 cases, a femoral "V" was associated with sudden interruption of the spine. Minor forms may not be recognized until childhood. Prognosis depends essentially on the extent of spinal involvement and associated malformations. Sirenomelus was considered for many years to be the most severe form of caudal regression, but recently acquired evidence suggests that these two conditions are separate entities.
The authors present a case of partial trisomy 12q associated with chylothorax, diagnosed at 30 weeks of pregnancy. Cordocentesis for the karyotype as well as thoracocentesis were carried out. In spite of the administration of tocolytic drugs the patient delivered a girl with multiple clinical abnormalities, who died at 7 days of age. From this case, the authors report 6 other cases of partial trisomy 12q in the literature, and, in the discussion they suggest the management after the diagnosis of hydrothorax has been made by ultrasound.