Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

Mutations in DAX-1 gene cause congenital adrenal hypoplasia (AHC). We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation. The mutation V287G affects the C-terminal end of the DAX-1 protein which plays an important role in functioning of the receptor. In addition, our patient presented an inappropriate tall stature and renal ectopy, which have not been described in AHC so far.     

Gastrointestinal stromal tumours of the stomach: personal experience

Gastrointestinal stromal tumours are a relatively new nosological entity with an increasing incidence. CD117 positivity at immunohistochemical analysis is mandatory to distinguish them from other mesenchymal tumours. A gastric localisation is observed in more than 70% of cases. In the present paper 11 primary gastrointestinal stromal tumours of the stomach operated during the last decade at our institution were retrospectively reviewed. Hospital files and histological slides of 11 patients with gastrointestinal stromal tumours of the stomach undergoing surgical resection at our institution over the period from 1993 to 2003 were reviewed retrospectively. The variables analysed were: morphological and immuno-histochemical characteristics of the tumours, demographic data, type of surgical treatment and postoperative course. Long-term survival was evaluated on the basis of clinical and/or telephone follow-up in all patients. Immunohistochemical analysis for CD11 7 proved positive in all patients. The size of the tumours ranged from 3 to 23 cm: tumour size was > 5 cm and > 10 cm in 8 and 3 patients, respectively. Nodal involvement was detected in one patient and another had liver metastases. Surgical treatment consisted of wedge resection in 3 cases, distal subtotal gastrectomy in 4 and total gastrectomy in 4. In 2 patients surgical excision was extended to other organs. No postoperative mortality or major postoperative complications were observed. Nine patients were still alive at follow-up; 1 patient died as a result of a neoplastic relapse (38 months) and 1 died of other causes (48 months). The median survival was 42 months. Gastrointestinal stromal tumours are characterised by slow growth and therefore clinical signs are delayed. For that reason large tumours are often observed at the time of diagnosis. Surgical resection is the only potential curative treatment; but the risk of recurrence (local or at distance) remains high.     

Comparison of sequential combined spinal-epidural anesthesia and spinal anesthesia for cesarean section

AIM: The aim of our study was to prove that by using sequential combined spinal-epidural (CSE) anesthesia it is possible to overcome the limits connected to the use of spinal anesthesia (SA) alone for elective cesarean section. METHODS: We examined 100 women submitted to cesarean section; SA was administered to 50 patients and sequential CSE technique to the other 50. In every woman before execution of the anesthesia we infused 500 mL of a plasma expander and a previous administration of 5 mg of ephedrine. The CSE was executed at the L1-L2 intervertebral space, administering in spinal anesthesia 5 mg of levobupivacaine with 5 _g of sufentanil, and in peridural anesthesia 10-12 mL of levobupivacaine 0.25% according to the patient's height. The peridural catheter for postoperative analgesia was then positioned. In the group of women submitted only to SA, 7.5-8 mg of levobupivacaine was injected, according to the patient's height, in the L1-L2 intervertebral space, with 5 _g of sufentanil. We considered the following adverse effects: hypotension; bradycardia; vomiting; intraoperative discomfort and motor block. RESULTS: The results obtained showed that, with a P < or = 0.05, the incidence of motor block (P < 0.001), discomfort (P < 0.001) and hypotension (P = 0.021) in the SA group is greater than in the CSE group. The difference in the incidence of vomiting (P = 0.147) and bradycardia (P = 0.067) between the 2 groups is not statistically significant. CONCLUSIONS: In our opinion sequential CSE can be considered an important step forward in the regional anesthesia used for elective cesarean section.     

2-Arylpropionic CXC chemokine receptor 1 (CXCR1) ligands as novel noncompetitive CXCL8 inhibitors

The CXC chemokine CXCL8/IL-8 plays a major role in the activation and recruitment of polymorphonuclear (PMN) cells at inflammatory sites. CXCL8 activates PMNs by binding the seven-transmembrane (7-TM) G-protein-coupled receptors CXC chemokine receptor 1 (CXCR1) and CXC chemokine receptor 2 (CXCR2). (R)-Ketoprofen (1) was previously reported to be a potent and specific noncompetitive inhibitor of CXCL8-induced human PMNs chemotaxis. We report here molecular modeling studies showing a putative interaction site of 1 in the TM region of CXCR1. The binding model was confirmed by alanine scanning mutagenesis and photoaffinity labeling experiments. The molecular model driven medicinal chemistry optimization of 1 led to a new class of potent and specific inhibitors of CXCL8 biological activity. Among these, repertaxin (13) was selected as a clinical candidate drug for prevention of post-ischemia reperfusion injury.     

Laparoscopic treatment of early ovarian cancer: surgical and survival outcomes

OBJECTIVES: To investigate the feasibility and safety of laparoscopic surgery in patients with early ovarian cancer. PATIENTS AND METHODS: Between 05-1996 and 06-2003, 24 patients with ovarian cancer FIGO stage IA-B underwent either primary treatment or completion of staging by laparoscopy. Laparoscopic staging was performed according to the FIGO guidelines, which entails one-sided oophorectomy or bilateral salpingo-ophorectomy with laparoscopic-assisted vaginal hysterectomy, pelvic lymphadenectomy, infrarenal para-aortic lymphadenectomy, complete resection of the infundibulo-pelvic ligament, appendectomy and partial omentectomy. RESULTS: Eleven out of 24 patients (45.8%) underwent completion of staging after a mean of 12 days (range 4-21) after primary surgery, while 13 patients out of 24 (54.2%) underwent primary laparoscopic management of an adnexal mass, diagnosed as ovarian cancer by frozen section. Mean operative time was 166 min (range 118-206) for completion of staging and 182 min (range 141-246) for primary surgery. No major intraoperative complication occurred. One out of 24 patients (4.1%) developed chylos ascites postoperatively, which was managed conservatively. Five out of 24 patients (20.8%) received adjuvant chemotherapy after a median time of 7 days (mean 5-14) following surgery. No trocar metastasis occurred. Median follow-up is 46.4 months (range 2-72). Two out of 24 patients (8.3%) developed recurrence, which was treated with resurgery and chemotherapy. After a median follow-up of 46 months, disease-free survival is 91.6% and overall survival 100%. CONCLUSIONS: Laparoscopic management of early ovarian cancer is safe and effective and survival outcome seems acceptable.     

Improvements in physical fitness in adults with Down syndrome

The effectiveness of an exercise training program for 52 adults with Down syndrome (M age = 39.4 years) was evaluated. The training program consisted of cardiovascular (30 minutes) and strength exercise (15 minutes) for 12 weeks, 3 days a week for 45-minutes per session. Compared to control subjects, the training group improved significantly in cardiovascular fitness and muscular strength and endurance and had a slight but significant reduction in body weight. Greater effort must be made to promote increases in physical activity participation among persons with Down syndrome and developmental disabilities in order to reduce the potential health risks associated with low fitness and sedentary behavior.     

Neural conduction in hand nerves and the physiological factor of age

Many researchers have established the influence of physiological factors as age, for the parameters of the study of the motor and sensitive conduction. The objective of this study was to analyze the influence of the variable age in the study of the motor and sensitive nervous conduction of the median and ulnar nerves. The data were collected from 92 volunteers: 61 women and 31 men. Their age was from 13 to 74 years old, with a mean of 36.3 years. Most of them were employees at Santa Casa de S?o Paulo. It was observed that a reduction in the velocity of sensitive and motor nervous conduction takes place with the age. This reduction is associated with a reduction in the amplitude of the evoked potential.