Biomedical subjects
Publications and source records attributed to F Hawkins.
A family is described with a translocation t(10;21)(q22;q22) transmitted through three generations. This family was studied for the apparition of several miscarriages and two sisters with multiple malformations. Both children had a probably partial trisomy of chromosome 10 and a monosomy of chromosome 21 due to a maternal adjacent-2 meiotic segregation.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A newbron baby that following an exchange transfusion due to A incompatibility, presented an hepatic and renal failure, is reported. Hepatic necrosis and associated renal patholgy suspected ruging evolution treated with exchange transfusions and peritoneal dialysis for three days, with improvement but, died at eight days of age. Necropsy findings confirm clinical suspect of hepatic necrosis. Pathology more frequently associated and management of fulminant hepatic failure is commented.
Total parenteral nutrition (TPN) for a prolonged period of time can be associated with bone pain and osteomalacia. We performed a study on the phosphorus/calcium metabolism and serum levels of osteocalcin (BGP), a protein proposed as constituting the bone turnover index in 31 patients receiving TPN (age 57 +/- 14 years, 22 males and 9 females) diagnosed as suffering from pathology of the digestive tract or geno-urinary pathology. The duration of the TPN was from 9.1 +/- 6.6 days (range 2-31 days). We observed and increase of FA (178 +/- 101 U/l), with a significant decrease of BGP (2.2 +/- 2.0 ng/ml vs. 3.7 +/- 1.3 ng/ml in controls; p less than 0.001). Serum levels of phosphorus and calcium corrected according to proteins were within normal limits. Hypercalciuria was detected in the urine (328 +/- 278 mg/24 hours), and phosphaturia (607 +/- 522 mg/24 hours). Based on the BGP results, we can conclude that patients subjected to TPN for a short period of time undergo a decrease in bone turnover.
The present case report concerns a term infant, born of a mother with an undiagnosed tuberculosis, which was proved by inguinal lymph node biopsy to have numerous acid-fast bacilli; sequence of events supports the thesis that infant had acquired infection transplacentally. Literature is reviewed and diagnosis, prophylaxis, chemotherapy of this infrequent disease with a grave prognosis is commented, emphasizing success of chemotherapy in this infant.