Efficacy and tolerability of mycophenolate mofetil in a pediatric Rasmussen syndrome.

Rasmussen syndrome (RS) is a chronic encephalopathy with uncertain etiology and immune-mediated pathogenesis. The only definitive treatment is represented by functional hemispherectomy. We describe the case of a 6.5-year-old female patient who developed several episodes of focal, unilateral clonic seizures. Following laboratory and instrumental investigations, the patient was diagnosed as having RS. A treatment with corticosteroids, intravenous immunoglobulin, and the antiseizure medication (carbamazepine and levetiracetam) did not completely control the seizures. Therefore, the patient was treated with mycophenolate mofetil (MMF), showing a good clinical response, with reduction of the seizures, and stability of the radiological findings. This case suggests the potential utility of MMF in the immune approach to RS.

[Stapled hemorrhoidopexy in the treatment of hemorroidal prolapse]. / Mucoprolassectomia con suturatrice meccanica nel trattamento della patologia emorroidaria.

In the treatment of hemorroidal prolapse, stapled hemorrhoidopexy, according to the Longo's technique, represents an innovative and interesting procedure. The Authors consider own experience in the years 2001-2002, estimating preliminary results in the treatment of 50 patients affected by hemorrhoidal disease classified as III-IV grade, associated with mucosal prolapse, rectocystocele in 5 cases, anal fissures in 6 and hyperplastic polyp in 1. The patients were submitted to mucosal prolapsectomy with mechanical stapler (PPH 01-33 Ethicon), applying haemostatic stitch on suture line, apart from intraoperative bleeding, associated to closed anal sphincterotomy in 6 cases, and resection of anal hyperplasic polyp in 1. In 5 cases of rectocystocele a Burch's culposuspension was associated to a stapled transanal rectal resection (STARR). After 3 and 12 months the Authors performed ano-rectoscopy, anal manometry and defecography. Mean operative time was 45 minutes (range 20'-130') and mean hospital stay was 3 days (range 2-6 days). In the early postoperative course urinary ritention in 4 cases, treated with temporary catheterization in 3 and permanent for 72 hours in 1, was observed. Only 1 patient, was reoperated in day-surgery and with loco-regional anesthesia for residual fibrous hemorroid. Bleeding, severe pain, anal stenosis, impairment of continence were not observed. According to the Literature data, our experience confirm that mucoprolapsectomy represents an innovative, safe, simple and definitive operation in the treatment of hemorrhoids disease. In case of rectal prolapse associated to external fibrous hemorroids, a combined surgical treatment is requested in order to achieve better results.

[Treatment for microcarcinoma of the thyroid. Clinical experience]. / Il trattamento dei microcarcinomi della tiroide. Esperienza clinica.

According to WHO, small papillary cancer represents a papillary carcinoma < or = 1 cm in greatest dimension. The autoptic incidence is more elevated showing a low aggressivity. In fact lower mortality and local relapse have been reported. The AA report their results of 17 pt operated on for benign thyroid pathology in last three years. The diagnosis has been "incidental cancer" with 7 mm of mean diameter. Surgical treatment consisted of 9 total thyroidectomy, 3 near total thyroidectomy, 3 subtotal thyroidectomy, 2 lobo-isthmusectomy, with completion on the fifteenth day. Radioiodine therapy was administered in the case of uptake > 3.5%. There were no significant complications. Only in parathyroidectomy for secondary hyperparathyroidism, we have definitive hypoparathyroidism. Age, capsular infiltration, multifocality and lymphonodal dissemination represent main prognostic factors. In the treatment of SPC we recommend a total thyroidectomy or a near total in association with iodine-131 radioiodine therapy.

Total parathyroidectomy with or without autoimplantion in the therapy of secondary hyperparathyroidism.

BACKGROUND: Secondary hyperparathyroidism (HPTs) in patients with chronic renal failure is related to a reduction of absorption of calcium with hyperplasia of main cells and an increase of PTH levels: this often leads to complications in dialysis. METHODS: Data from 10 patients (mean age 55 years) with HPTs who underwent total parathyroidectomy from November 1999 to November 2001 were retrospectively collected. Surgical indications included: persistent hypercalcemia, bone fractures, fatigue, joint pain and itching. Median preoperative PTH level was 800 pg/ml. Presurgical work-up included: serum PTH, calcium and alkaline phospha-tases. Thyroid ultrasound and scintigraphy, 99Tc sestamibi scintigraphy, CBM, FNB were also performed. In 5 patients 2 hours prior to the operation 2 MCu of sestamibi 99Tc had been injected. Patients underwent cervical exploration radioguided in 5 cases under general anesthesia. The operation consisted in the removal of all glands with subcutaneous forearm implant in 4 cases. PTH dosage at starting time of operation (time 0) was performed; it was repeated after the removal of each parathyroid gland and postoperatively on days 1 and 3 and then every month for 6 months. RESULTS: Twenty-four hours postoperatively 9 patients showed a great reduction of PTH levels with improved symptoms already on day 1 postoperative. In the patient with persistent HPT an autoimplant had been performed. CONCLUSIONS: Secondary HPT still shows unclear aspects. Parathyroidectomy determines an immediate improvement in symptoms. In all observed patients PTH was significantly reduced, serum calcium returned to normal and in any case hypoparathyroidism was detected.

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies.

Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta-and epsilon-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in delta-sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy, we studied cardiac and respiratory involvement in 20 patients with sarcoglycanopathies by clinical, electrocardiographic, echocardiographic, scintigraphic and spirometric assessments. A normal heart function was found in 31.3% of all patients; a preclinical cardiomyopathy in 43.7%; an arrhythmogenic cardiomyopathy in 6.3% and initial signs of dilated cardiomyopathy in 18.7%. In one patient the data were examined retrospectively. No correlation was found between cardiac and skeletal muscle involvement. With reference to the type of sarcoglycanopathy, signs of hypoxic myocardial damage occurred in beta-, gamma- and delta-sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in gamma- and delta-sarcoglycanopathies were found. A normal respiratory function was observed in 23.5% of all patients, a mild impairment in 35.4%, a moderate impairment in 29.4%, and a severe impairment in 11.7%.

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.

Mutations in any of the genes encoding the alpha, beta or gamma-sarcoglycan components of dystrophin-associated glycoproteins result in both sporadic and familial cases of either limb-girdle muscular dystrophy or severe childhood autosomal recessive muscular dystrophy. The collective name 'sarcoglycanopathies' has been proposed for these forms. We report the identification of a fourth member of the human sarcoglycan family. We named this novel cDNA delta-sarcoglycan. Its mRNA expression is abundant in striated and smooth muscles, with a main 8 kb transcript, encoding a predicted basic transmembrane glycoprotein of 290 amino acids. Antibodies specifically raised against this protein recognized a single band at 35 kDa on western blots of human and mouse muscle. Immunohistochemical staining revealed a unique sarcolemmal localization. FISH, radiation hybrid and YAC mapping concordantly linked the delta-sarcoglycan gene to 5q33, close to D5S487 and D5S1439. The gene spans at least 100 kb and is composed of eight exons. The identification of a novel sarcoglycan component modifies the current model of the dystrophin-glycoprotein complex.

A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study.

The results of a collaborative study involving about one third of the total DMD and BMD cases living in the Italian territory are reported. The analysis of the breakpoint frequency by intron revealed significant differences among regional groups of DMD patients (for introns 2, 11 and 50 in Sardinia and for introns 9 and 45 in northeastern Italy), whereas no regional differences were observed among regional groups of BMD patients. These differences involve the same Italian regions which previous studies, performed by different markers, identified as "genetically differentiated". The data support the possibility of a differential distribution among populations of some intronic sequences, facilitating the origin of deletion breakpoints within the dystrophin gene.