Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.

Sarcoglycanopathies (SGpathies) are highly frequent among severely affected limb-girdle muscular dystrophy patients. On the basis of the findings of 5 common mutations in the 4 sarcoglycan (SG) genes in the Brazilian population, we standardized a multiplex polymerase chain reaction-single-strand conformation polymorphism methodology for their concomitant analysis in DNA samples. The test was able to confirm the diagnosis in about 63% of new patients with a suspected SGpathy and was particularly important in patients in advanced stages of the disease, when obtaining a muscle biopsy for analysis may be very difficult. As common mutations have been described in several countries, this multiplex analysis could be useful for the diagnosis of SGpathies if established according to the most prevalent mutations in each population. Besides, even though the disorder studied is rare, the technique could be broadly applicable to other genes and disorders.     

Are Continuity Clinic Patients Less Satisfied When the Resident Is Postcall?

Due to recent public debate and newly imposed resident work hour restrictions, we decided to investigate the relationship of resident call status to their ambulatory patients' satisfaction. Resident continuity clinic patients were asked to rate their level of satisfaction on a 10-point Likert-type scale. Using multiple regression approaches, these data were then assessed as a function of resident call status. We found that in 646 patient encounters, patient satisfaction scores were significantly less when the resident was postcall, 8.99 ± 1.8, than when not postcall, 9.31 ± 1.3. We herein discuss etiologies and implications of these findings for both patient care and medical education.     

How we do it: Reinsertion of the stylet into the nucleus contour cochlear implant to facilitate second insertion. A helpful technique salvaging the cochlear implant device

• There are several causes for failure of appropriate position of the electrode array of the nucleus cochlear implant, e.g. incomplete insertion, extrusion, luxation, curling of the device, deviation, or false route. • If the position of the electrode array in relation to the modiolus is unsatisfactory, in order to salvage the cochlear implant one can reload the cochlear implant array with its stylet. • In order to reload the electrode array, primarily it needs to be removed from the cochlea and inserted into a small size suction tube (lubricated with just water). Then the stylet needs to be carefully straightened and inserted into the lumen of the array. • This technique is a relatively simple solution for unsatisfactory placement of the electrode array and can prevent discarding the precious cochlear implant.     

Phosphatidylcholine does not affect peritoneal transport of intact rabbits

Ultrafiltration and solute transport during 60-min peritoneal dialyses of normal rabbits with intraperitoneal administration of phosphatidylcholine were compared to control values. The ultrafiltration rate of 0.27 mL/Kg/min did not increase when phosphatidylcholine was added. This agent had no effect on the ultrafiltration coefficient, sodium mass transport or solute clearances. Previously reported beneficial results with this agent could be due to repletion of a deficiency or an effect of the organic solvent. More studies of safety and efficacy of phosphatidylcholine are warranted before widespread clinical use.     

Comparison between the diagnostic validity of cytology and histology in preneoplastic and neoplastic endometrial pathology

With the aim of defining a program of prevention for preneoplastic and neoplastic endometrial pathology which guarantees a valid, accurate and cost-contained diagnosis, 476 women considered at risk were examined. All the patients were first submitted to cytologic endocavitary withdrawal and subsequently to aspirated curettage. The cytologic and the histologic diagnoses proved concordant in 72.3% of cases of non-pathologic endometrium, in only 68.7% of preneoplastic pathology, and in 72.7% of neoplastic pathology. The non-interpretable pictures had a notable incidence (21.7%). The AA., while recognising the validity of cytology in cases of carcinoma, underline the difficulties in the diagnosis of preneoplastic lesions, and conclude that in doubtful or positive cases and subjects at risk a histologic enquiry is always necessary.     

The Istituto Rizzoli-Beretta experience with osteosarcoma of the jaw

Twenty-eight osteosarcomas (OS) of the jaw were reported. There were 15 male and 13 female patients (age range, 9 to 68 years; mean, 36.9 years); 57.1% of the patients were older than 30 years of age. Swelling was the most frequent symptom; it was reported on an average of 6 months before diagnosis. Most of the tumors of the maxilla (eight patients) occurred in the alveolar ridge (six of eight). In the mandible (20 patients), the body was the preferred site (11 of 20). Radiographically most of the lesions were either lytic and sclerotic or only lytic. Histologically, 12 cases (42.9%) were osteoblastic osteosarcoma, ten (35.8%) were chondroblastic, four (14.3%) were fibroblastic, and two (7%) were round cell OS. Of the 28 cases, three (10.7%) were low grade, and 25 (89.3%) were high grade. Thirteen patients had intralesional surgery, and 13 had marginal surgery as their initial treatment. Recurrence was the rule in the first group, and it was 69% in the second group. Twenty patients (71%) died, and eight are alive. Of these, two are alive with disease. In the six patients who are alive and disease-free, all but one had marginal to wide surgical margins at the time of the first procedure or wide margins at the time of the recurrences along with chemotherapy or radiation therapy. In the patient in which the surgical margins were marginal, the lesion was small 2.5 X 2 cm. This patient was alive without evidence of disease after 9 years of follow-up.