Calpainopathy-a survey of mutations and polymorphisms.

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This report represents a compilation of the mutations and variants identified so far in this gene.

Pemphigus vulgaris: benefits of tetracycline as adjuvant therapy in a series of thirteen patients.

Background: Tetracycline is an antibiotic which has been proven beneficial as an immunomodulating drug in the treatment of autoimmune bullous diseases.

Methods: Thirteen hospitalized patients with pempigus vulgaris received tetracycline 2 g/day for 1 month, then 1 g/day for the following 4 weeks. Prednisone 0.

[Alterations in functional proteins. Calpaine-3 deficiency].

Introduction: Muscular dystrophies due to calpain deficiency are the first example of a muscular dystrophy due to the mutation of a gene codifying for a non-structural enzymatic protein of unknown function and substrate.

Development: More than 70 mutations have been described in the gene structure, localized to chromosome 15. Although the time course and topography is fairly homogeneous, correlation between the different mutations and the phenotype has still to be analyzed.

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising mostly during sleep, without postictal confusion.

Retroperitoneal approach in laparoscopic adrenalectomy: is it advantageous?

Recently, the retroperitoneal laparoscopic approach has been described as advantageous in avoiding the respiratory and hemodynamic effects of CO2 pneumoperitoneum and giving direct access without the need to move abdominal organs. Forty-two laparoscopic adrenalectomies (LpA) were performed in 36 patients with a variety of adrenal disorders, including 9 patients with nonfunctioning tumors, 11 patients with aldosterone adenoma, 10 patients with Cushing's adenoma, and 6 patients with Cushing's disease. Twenty-two adrenalectomies were performed using the transperitoneal approach (TLpA), and 20 via the retroperitoneoscopic approach (RLpA).

Helium and carbon dioxide pneumoperitoneum in patients with pheochromocytoma undergoing laparoscopic adrenalectomy.

Insufflation with helium is used to prevent respiratory acidosis, hypercapnia, and cardiovascular instability associated with carbon dioxide (CO2) pneumoperitoneum. The aim of this prospective study was to compare CO2 with helium pneumoperitoneum with special reference to respiratory and hemodynamic changes at different times during the operation. Altogether 22 pheochromocytoma patients undergoing laparoscopic adrenalectomy (LpA) were included using CO2 in 11 patients (CO2LpA) and helium in 11 patients (HeLpA).

Interactive image-guided surgical resection of intracranial arteriovenous malformations.

Surgical excision is the only treatment method that immediately prevents increased morbidity or mortality as a result of hemorrhage from arteriovenous malformations (AVMs). For those lesions located deep within the cerebral hemispheres or near eloquent areas, conventional surgical resection may be associated with an unacceptable degree of morbidity and mortality. Herein we report our experience in the resection of these lesions using interactive image guidance.

Cryopreservation of pancreatic islets prior to transplantation: a comparison between UW solution and RPMI culture medium.

Effective cryopreservation of pancreatic islets would be valuable in several contexts: for the assessment of islet cell viability, the measurement of beta-cell function, and the maintenance of viability and sterility prior to islet transplantation. In this study, isolated rat islets were cryopreserved or not following overnight culture and the most suitable preservation solution for transportation between centers was sought. Unfrozen and frozen-and-thawed islets were allocated to each of four different groups: untreated controls; cultured overnight in RPMI at 37 degrees C; cold stored at 4 degrees C in RPMI for 18-24 h; and stored at 4 degrees C in University of Wisconsin (UW) solution for 18-24 h.

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

The concept of limb-girdle muscular dystrophy (LGMD) is changing rapidly due to the advances in molecular genetics. Recently, seven different gene loci have been described, demonstrating that limb-girdle muscular dystrophy is a heterogeneous syndrome, which includes different diseases with a similar phenotype. In isolated populations which have little genetic exchange with neighbouring populations, an accumulation of cases may be found.

[Coronary revascularization surgery with arterial grafts].

Coronary artery revascularization surgery is well established procedure throughout the world. The benefits are based on the blood perfusion through the implanted grafts distal to the coronary occlusions and continue as long as the grafts remains patent. The immediate success of this procedure is related to the surgical technique and the anatomical characteristics of the grafted coronary arteries.

[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex].

Linkage studies have confirmed the existence of clinical an genetic heterogeneity among the muscular dystrophies due to adhalin deficiency. We present the clinical, histological and genetic characteristics in a case of primary adhalinopathy (deficiency of the 50 kD subunit or alpha-sarcoglycan). It was a 19 years-old woman, born of non consanguineous parents, who shows a long evolution myopathy with onset before age 7, a severe evolution and becoming wheelchair bound at 10 years.

Interactive image guided surgery of the pineal region.

A wide variety of lesions occur in the pineal region. Of these, only 25% may benefit from surgical resection, being benign or radioresistant in nature. In the remaining 75% (malignant or radiosensitive), a conservative approach is preferred.

Conservative pancreatic resection in patients with obstructive chronic pancreatitis.

The purpose of this paper is to present the results of our experience in using a conservative pancreatic resection approach in a certain group of patients suffering from chronic pancreatitis. From January 1988 to December 1995, 110 patients underwent surgical therapy for chronic pancreatitis at the Hospital Clinic of the University of Barcelona. In 35 patients with an inflammatory mass at the pancreatic head, pylorus-preserving duodeno-pancreatectomy was performed.

Total bilateral laparoscopic adrenalectomy in patients with Cushing's syndrome and multiple endocrine neoplasia (IIa).

Background: The benefit of simultaneous bilateral laparoscopic adrenalectomy in patients with Cushing's syndrome and pheochromocytoma associated with multiple endocrine neoplasia (MEN) is unknown.

Methods: Ten patients underwent laparoscopic adrenalectomy (LpA) with CO2 pneumoperitoneum for Cushing's syndrome. One MEN patient underwent simultaneous bilateral laparoscopic adrenalectomy with helium pneumoperitoneum for bilateral pheochromocytoma.

Late outcome after acute pancreatitis: functional impairment and gastrointestinal tract complications.

Functional and morphologic changes that take place in the pancreatic gland after an episode of acute pancreatitis have been the subject of discussion among experts in recent years. At the present time there are enough studies to support the fact that for a certain time if not permanently after acute pancreatitis a variable number of patients continue to show morphologic pancreatic changes in the pancreas and exocrine functional impairment. These changes are clearly seen to be related to the severity and alcoholic etiology of the pancreatitis.

Radiosurgical treatment of meningiomas.

From January 1992 to November 1996, 17 patients with the diagnosis of intracranial meningioma underwent radiosurgical treatment. Of these, 7 patients were treated using a Linac-based system (group 1), and 10 using the Leksell Gamma Knife unit (group 2). The follow-up ranged between 12 and 48 (median 33) months for group 1 and between 1 and 11 (median 5) months for group 2, consisting of clinical and MRI assessments every 3 months during the first year, and every 6 months thereafter.

Interactive image-guided resection of cerebral cavernous malformations.

Between July 1992, and February 1997, 15 patients with cavernous malformations underwent interactive image-guided resection of their lesions. There were eight women and seven men in the group, ranging in age from 6 years to 62 years (mean 34 years). Clinical presentations included seizures (n = 7), headache (n = 4), and hemorrhage (n = 4).

Cyclosporine does not inhibit the process of revascularization of pancreatic islet transplantation.

The immunosuppressive drug cyclosporin-A (CsA) has been widely used to prevent pancreatic islet allograft rejection. Because it has been suggested that CsA may inhibit the process of revascularization of transplanted islets, the purpose of the study was to analyze by a double indirect immunofluorescence technique the revascularization process of isolated islets grafted in the liver and in the renal subcapsular space of rats treated with immunosuppressive doses of CsA. Lewis rats were grafted with either Lewis (isografts) or Wistar (allografts) pancreatic islets obtained by collagenase digestion.

Effect of fusidic acid on pancreatic islet allograft rejection.

We examined in fully mismatched rats, the survival of pancreatic islet allografts in recipients treated with either fusidic acid (FA), an antistaphyllococcal antibiotic that has been shown to possess an immunosuppressive effect in vitro and in vivo, or cyclosporin-A (CsA). Islets were isolated by collagenase digestion, separated from acinar tissue by handpicking under a dissecting microscope and transplanted into the liver by portal vein injection of streptozotocin(STZ)-induced diabetic rats. The results indicated that while a temporary immunosuppression with CsA achieved an indefinite islet allograft survival, FA administered to recipients daily was not able to prevent islet allograft rejection across a major histocompatibility barrier.

Laparoscopic unilateral and bilateral adrenalectomy for Cushing's syndrome. Transperitoneal and retroperitoneal approaches.

Objective: This prospective randomized study compares the safety and efficacy of transperitoneal laparoscopic adrenalectomy (TLPA) and retroperitoneal approach (RLPA) in obese patients with Cushing's syndrome.

Summary Background Data: Recently, a retroperitoneal laparoscopic approach has been described with benefits of avoiding the respiratory and hemodynamic effects of carbon dioxide (CO2) pneumoperitoneum and giving direct access without the need to mobilize abdominal organs.

Methods: Twenty-one adrenalectomies were performed in 9 patients (2 men, 7 women; mean age, 46.