A Golgi localization signal identified in the Menkes recombinant protein

Menkes disease arises from a genetic impairment in copper transport. The gene responsible for the phenotype has been identified as a copper transporting ATPase ( ATP7A ). Recently, the protein encoded by the ATP7A gene has been localized to the Golgi complex. In order to investigate the role of the Menkes disease protein in copper transport, recombinant constructs containing both the full-length open reading frame and an alternatively spliced form have been successfully expressed and localized in mammalian cells. Other studies of a patient with occipital horn syndrome, an allelic variant of Menkes disease, have demonstrated that only this alternatively spliced isoform and not the full-length form is expressed in this patient. The milder form of this patient's phenotype suggests that the alternatively spliced isoform has some functional role in copper transport. In the present study the full-length recombinant Menkes protein was shown by immunofluorescence to localize to the Golgi apparatus and the alternatively spliced form, lacking sequences for transmembrane domains 3 and 4 encoded by exon 10, was shown to localize to the endoplasmic reticulum. Using sequences from exon 10 fused to a non-Golgi reporter molecule, a 38 amino acid sequence containing transmembrane domain 3 of the Menkes protein was found to be sufficient for localization to the Golgi complex. Therefore, the protein sequence encoded by exon 10 may be responsible for this differential localization and both isoforms may be required for comprehensive transport of copper within the cell.     

Prolonged neuromuscular blockade with mivacurium in a newborn

Recent reports have demonstrated that puerperal psychosis is preceded by prodromic signs. These signs must be recognized in a multidisciplinary context, opening the way to improved diagnosis, therapy and prognosis. On the basis of our clinical experience, we stress the important of early management in women who present prodromic signs of puerperal psychosis. Specific management relies on intensive psychotherapy with daily sessions centered on filiation. With this approach, the emergence of delusions can generally be prevented, usually allowing an uninterrupted mother-infant relationship. We hypothesize that this approach has a favorable influence on later mother-child interactions and cause profound changes in the mother's psychic organization, resulting in a better long-term prognosis. We illustrate our point with a case report.     

Two reconstructive techniques for flatfoot deformity comparing contact characteristics of the hindfoot joints

The effect of two different methods of reconstruction of flatfoot deformity and the role of the posterior tibial tendon on the contact characteristics of the hindfoot joints were quantified using pressure-sensitive film. Each of 10 cadaver feet was loaded quasi-statically by an axial compressive force to simulate varying loads. First, a specimen was tested intact, then it was tested after sectioning the spring ligament and loading the specimen cyclically to create one type of flatfoot deformity. It was then tested again after reconstructing the deformity. Reconstructions used were the Dillwyn-Evans procedure (bone graft in osteotomy of the calcaneus) or the calcaneocuboid distraction arthrodesis (CCDA). We found that surgically produced flatfoot deformity altered mainly the talonavicular joint, by decreasing its contact area. The Dillwyn-Evans method had less effect on the talonavicular joint (altering 2 of 6 measured parameters) than the CCDA (3 of 6) and more effect on the anteriomedial facet (altering 3 of 6 parameters) than the CCDA (1 of 6). The Dillwyn-Evans method had more effect on the posterior facet (altering 2 of 6 measured parameters) than the CCDA (1 of 6). Function of the posterior tibial tendon had no effect on contact characteristics of the hindfoot joints after either type of reconstruction. These findings are based on measurements using a quasi-statically-loaded foot model at three selected positions, and results may be different with dynamic loading.     

Electrically Conducting PbyOx–SiO2 Glass Films Deposited by Reactive Radio-Frequency Magnetron Sputtering

Lead silicate glass films were deposited on sapphire substrates in different plasmas (100% Ar; 20% H₂+ 80% Ar; 5% O₂+ 95% Ar) by reactive radio-frequency magnetron sputtering. The stoichiometry of the films, determined by Rutherford backscattering spectroscopy, changed with the deposition conditions. X-ray diffractometry analysis showed the presence of metallic Pb in the samples sputtered in H₂-containing plasma. The room-temperature sheet resistance of the films ranged from >10¹⁶Ω/□ (O₂-containing atmosphere) to about 10³Ω/□ (H₂-containing atmosphere).     

Postsurgical bile leaks: endoscopic obliteration of the transpapillary pressure gradient is enough

OBJECTIVES: Bile leaks are a well documented complication of biliary surgery, occurring more frequently with laparoscopic procedures. Endoscopic therapy with a long biliary endoprosthesis traversing the site of the leak is effective. We have evaluated the hypothesis that equalizing biliary and duodenal pressures with a short transpapillary stent is an equally effective therapy for bile leaks. METHODS: Thirty one consecutive patients presenting over a 52-month period with postsurgical bile leaks were evaluated. Patients had been treated with long endoprostheses (stents or nasobiliary tubes), sphincterotomy, or short transpapillary stents. The success, complication rate, need for additional therapy, and hospitalization time of each therapeutic approach were determined. RESULTS: Endoscopic therapy was successful in all 25 patients in whom a bile leak could be documented. The clinical success, need for radiological drainage, length of hospitalization, and incidence of pancreatitis were similar for all methods of treatment. CONCLUSIONS: These results confirm that endoscopic therapy is highly successful in the treatment of postoperative bile leaks and suggest that the mechanism of healing is the equalization of bile duct and duodenal pressures, allowing flow of bile into the duodenum. The endoscopic placement of short transpapillary stents without sphincterotomy is a temporary, effective, and technically simple method of pressure equalization. This should be considered as the primary therapy for most postoperative bile leaks.     

Primary retroperitoneal germ cell tumours: excision via a thoracoabdominal extraperitoneal approach

BACKGROUND: Primary retroperitoneal germ cell tumours usually present as a large abdominal mass in young men. The testes are normal on examination and ultrasonography but there are usually raised serum levels of human chorionic gonadotrophin and/or alpha-fetoprotein. METHODS: Fourteen men (median age 33 years) with primary retroperitoneal germ cell tumours were treated by chemotherapy followed by surgical resection of the primary tumour and metastases via a thoracoabdominal extraperitoneal approach. RESULTS: There was minimal morbidity. The survival rate was 13 of 14 and the disease-free survival rate was 11 of 14 after a median follow-up of 15 months. CONCLUSION: The thoracoabdominal extraperitoneal approach for the removal of retroperitoneal germ cell tumours and their metastases after chemotherapy improves tumour clearance, morbidity and recovery time compared with the transperitoneal anterior approach.