Lack of pancreatic body and tail in HNF1B mutation carriers.

AIMS: Hepatocyte nuclear factor 1B (HNF1B) gene mutation carriers have a systemic disease characterized by congenital malformations in the urogenital tract, diabetes mellitus of maturity-onset diabetes of the young type and dysfunction of the liver and exocrine pancreas. We aimed to investigate pancreatic structure and exocrine function in carriers of HNF1B mutations. METHODS: We studied five subjects from two families with the previously reported mutation R137_K161del and the novel mutation F148L in HNF1B. All patients underwent computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP). We measured faecal elastase and serum vitamins D and E. RESULTS: One of the mutation carriers reported abdominal symptoms. All five subjects had faecal elastase deficiency, three had vitamin D deficiency and two had vitamin E deficiency. Neither CT nor MRCP depicted tissue corresponding to the pancreatic body and tail in the five mutation carriers, indicating agenesis of the dorsal pancreas. The head of the pancreas was slightly atrophic but had normal X-ray attenuation at CT in all patients. CONCLUSIONS: Agenesis of the pancreatic body and tail and pancreatic exocrine dysfunction are parts of the phenotype in HNF1B mutation carriers. This strengthens the evidence for a critical role of HNF1B in development and differentiation of at least the dorsal pancreas.

Single-session alcohol sclerotherapy in symptomatic benign hepatic cysts. Long-term results.

PURPOSE: To evaluate the long-term results of single-session alcohol sclerotherapy of symptomatic benign liver cysts. MATERIAL AND METHODS: 23 cysts in 19 patients were treated by single-session percutaneous catheterization and injection of 96% ethanol. Evaluation of long-term results was possible in 11 cysts (volume 200-2,700 ml, mean 1,317 ml) in 11 patients. Time of observation was 12-67 months, mean 38.3 months. RESULTS: The reduction of volume was 93-100% (mean 98%). The re-accumulation of fluid after therapy seen in 9 patients proved to be transitory. Except for pain there were no complications. CONCLUSION: Single-session sclerotherapy resulted in satisfactory cyst volume reduction in all 11 long-term follow-up patients.

Single-session alcohol sclerotherapy in benign symptomatic hepatic cysts.

PURPOSE: To evaluate the results of single-session alcohol sclerotherapy in benign symptomatic liver cysts. MATERIAL AND METHODS: Ten cysts (volume 200-4,800 ml) in 10 patients were treated by percutaneous catheterization and injection of 96% ethanol at a dose of 10% of the cyst volume but never more than 100 ml. The treatment was applied for a maximum of 20 min, after which the alcohol and catheter were removed. RESULTS: A satisfactory reduction in cyst volume was achieved in all patients. In 8 patients there was a re-accumulation of fluid during the first period after therapy, followed by a significant reduction in volume on later follow-up examinations. Except for pain, there were no complications. CONCLUSION: Sclerotherapy as a single-session procedure resulted in a significant reduction in cyst volume in all 10 patients. The postprocedural re-accumulation of fluid seen in 8 patients proved to be temporary. It was not necessary to repeat the sclerotherapy procedure in any patient.

Open tibial fractures treated with Hoffmann external fixation.

Thirty-two open fractures of the tibial shaft were treated with external fixation between 1973 and 1981. Early amputation was necessary in one patient. In the remainder, including 14 with extensive soft-tissue lesions, wound healing was obtained within 18 weeks, and the median time until full weight bearing without pain was 32 weeks (range 8-60 weeks). Two deep infections healed during the observation period. Among 26 patients examined 1-9 years after the injury, the result was excellent in six, good in 11, fair in four, and poor in five patients (including the amputation). One fracture had not united during the observation period. Four poor results were due to the stiffness of the ankle and foot after compartment syndrome. In conclusion, alertness for early fasciotomy is necessary even in severe open tibial fractures. The external fixation should not be continued longer than the soft tissue and bone reconstruction make it necessary.

The emergence of a circadian pattern in respiratory rates: comparison between control infants and subsequent siblings of SIDS.

The objective of the present study is to compare the emergence of a circadian respiratory pattern in subsequent siblings of SIDS and controls infants to see whether the unique time and age of SIDS is correlated with altered circadian manifestations. During the first three months of life, a pattern in respiratory rates emerged which appeared to be the nightly portion of a circadian rhythm. Subsequent siblings of SIDS exhibited transient accelerated maturation of this circadian pattern. During the first month of life, minima in respiratory rates in quiet sleep occurred during the second and third intervals of the night in subsequent siblings, a pattern not seen until three months of age in control infants.