Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.

We report a 12-year-old patient with growth retardation, exercise intolerance, lactic acidosis (increasing after exercise) and autoimmune polyendocrinopathy type 2. Muscle biopsy shows abundant COX-negative fibers, subsarcolemmal mitochondrial aggregates and markedly reduced activities of all respiratory chain complexes. Genetic analysis identified two new cosegregating mutations in Met-tRNA (m.4415A>G) and Cox III (m.9922A>C), located in highly conserved regions of MtDNA. Both the mutations are heteroplasmics in multiple patients' tissues. Single-muscle fiber analysis showed significantly higher levels of both the mutations in COX-negative than in normal fibers. In addition, a possible link between the mitochondrial dysfunction and the autoimmune disease is suggested.

GH secretion in a cohort of children with pseudohypoparathyroidism type Ia.

Pseudohypoparathyroidism type Ia (PHP-Ia) is characterized by Albright's hereditary osteodistrophy (AHO) and resistance to hormones that act via the alpha subunit of the Gs protein (Gsalpha) protein, ie PTH, TSH, FSH/LH, and, as recently described in limited series, GHRH. However, the current lack of data on GHRH secretion, obesity and short stature included in the AHO phenotype hampers interpretation of GH secretory status and its effects on these subjects. We evaluated GH secretion after GHRH plus arginine (Arg) stimulus, IGF-I levels and anthropometric features in an exclusively pediatric population of 10 PHP-Ia subjects. Of our PHP-Ia children, 5 out of 10 (50%) showed impaired GH responsiveness to the provocative test, with a lower prevalence than the 75-100% previously reported. A negative correlation (p=0.024) was found between GH secretion and body mass index (BMI), whereas no correlation emerged between GH and IGF-I values (p=0.948). Height and growth velocity did not significantly differ between GH-deficient and GH-sufficient subjects. In the 5 GH-deficient patients, GHRH resistance could arguably be responsible for hormonal impairment; however, 3 of them were obese, showing normal stature and IGF-I levels: the increased BMI in these subjects could influence GH secretion and its effects. In conclusion, GH deficiency is frequent among PHP-Ia children and its prevalence is variable, two factors indicating that GH secretory testing should be part of the routine management of this patient group. It could be argued that GHRH resistance is the pathogenetic mechanism in most patients, but further studies on GHRH secretion are needed to define which values can be considered as raised. Lastly, because BMI has been indicated as a major determinant of evoked adult GH response to provocative testing, GH levels related to increased BMI also in childhood could be helpful in defining GH assessment in obese or overweight PHP-Ia children.

Femoral hernia repair. Kugel retroparietal approach versus plug alloplasty: a prospective study.

Plug insertion for primary femoral hernia repair may cause p.o. discomfort. The Kugel technique may avoid this problem. Patients' satisfaction to the Kugel and the plug techniques is compared in the present study. Demographics, surgical, outcome and analgesic consumption data of 26 patients treated for with the plug technique (P group) are compared with 24 operated with the Kugel patch (K group). Patients' p.o. discomfort to the two procedures was measured with quantitative (VAS score) and a qualitative (the short form of McGill pain questionnaire, SF-MPQ) methods, and compared. P group presented higher early p.o. pain (P<0.001), higher analgesic consumption and a significative delay in the return to physical activity (P<0.001). SF-MPQ scores at p.o. day 8, day 30 and month 6 were significantly lower for K group (P<0.001, P<0.001, P<0.005). The Kugel technique for femoral hernia treatment seems to cause less p.o. discomfort to patients than the plug technique.

Kugel hernia repair: open "mini-invasive" technique. Personal experience on 620 patients.

A large monoinstitutional series adopting the Kugel retroparietal technique for inguinal hernia surgery is analysed. Our aim is to assess the "mini-invasiveness" of this technique. Six hundred and twenty patients (pts) affected by monolateral inguinal hernia were treated with a preperitoneal alloplasty with a posterior approach (Kugel hernia repair, KHR) between January 2002 and September 2004. The surgical incision extension was 3.5 cm on average (range 2-4.5). The mean operation time was 33 min (range 20-45). Spinal anaesthesia and ambulatory procedure were applied in 595 cases (96%). Postoperative complications affected 20 pts (3%). The postoperative pain was well controlled. No chronic neuropathic pain was registered at follow-up. Patients resumed work after an average of 9 days (range 7-12) from operation. Recurrence rate was 0.8%. Conclusions. The Kugel hernia repair satisfies the standards to be awarded as a "mini-invasive" technique.

[D2 gastrectomy in the surgical treatment of gastric cancer]. / Gastrectomia D2 nel trattamento chirurgico del cancro gastrico.

The study is conducted on a series of 57 patients treated with D2 gastrectomy with curative intent for gastric cancer between January 2000 and December 2004, at Policlinico Multimedica (Milan). Postoperative mortality was 2%. Recurrence rate was 10%. The overall survival of the series is 36% at 4 years follow-up. Negative prognostic factors were: high grade tumor, locally advanced primary disease, presence of lymph node metastases, advanced stage of disease and recurrent disease at follow-up. The data of the study are comparable to those in the literature.

[Intraperitoneal hyperthermic chemotherapy. Preliminary experience with 22 consecutive patients]. / Chemioterapia ipertermica intraperitoneale. Esperienza preliminare in 22 pazienti consecutivi.

The study analyses the results of surgical treatment and intraperitoneal hyperthermic chemotherapy on a group of 22 patients, affected by peritoneal carcinomatosis of different origins, and treated at Policlinico Multimedica (Milan) between June 2001 and December 2004. Surgical major complications were present in the 23% of the patients, and post-operative mortality rate was 13%. None of the patients presented chemotherapy related toxicity. Six patients died within 2 and 40 months after surgery, while 13 are alive within 4 and 40 months after operation.

Biliary excretion of rufloxacin in humans.

Rufloxacin is a new once-daily antibacterial fluoroquinolone with a long half-life. The aim of the present study was to evaluate the plasma and biliary kinetics and biliary and urinary excretion of rufloxacin in patients with extrahepatic cholestasis. Twelve patients with total external percutaneous transhepatic biliary drainage were given a single oral dose of 400 mg of rufloxacin. Plasma, bile, and urine samples and fractions were collected over 72 h after drug administration. Rufloxacin and its major metabolite, the N-desmethyl derivative, were measured by high-performance liquid chromatography. Maximum rufloxacin concentrations in plasma and bile (means +/- standard deviations) were 4.05 +/- 1.38 micrograms/ml and 8.24 +/- 7.16 micrograms/ml, respectively, and were reached in 4.2 +/- 3.0 h and 4.2 +/- 3.5 h, respectively. The terminal elimination half-life of rufloxacin in plasma was 45.1 +/- 13.5 h. Apparent plasma clearance was 31.3 +/- 10.5 ml/min, while biliary clearance was 0.4 +/- 0.2 ml/min and renal clearance was 12.7 +/- 6.0 ml/min. In 72 h, 0.9% +/- 0.8% of the dose given was recovered in bile and 27.2% +/- 12.0% was recovered in urine. Biliary concentrations exceeded the MICs of most common biliary tract pathogens for at least 24 h after administration. The broad antibacterial spectrum of rufloxacin and its high and prolonged biliary concentrations suggest that this drug may be useful for treatment of biliary tract infections.

Endometrioma of the liver.

Hepatic endometriosis is extremely rare. We describe a patient sent to us with epigastric pain as the only symptom and who was found to have associated endometrioma of the liver and left ovary. We suggest a gynecologic evaluation before surgery for hepatic cyst of unknown cause.

New trends in the diagnosis and therapy of acute cholangitis.

For a long time, acute cholangitis has been a difficult therapeutic problem, mostly due to the limited information about the jaundiced patient available from diagnostic investigations. The diagnostic precision of percutaneous transhepatic cholangiography in association with the great therapeutic possibilities of percutaneous transhepatic biliary drainage has solved this problem. The successful results obtained in 37 patients with acute cholangitis prove the value of this approach.