Mutation analysis in 16 patients with mtDNA depletion

Sixteen unrelated Southern European patients with the mitochondrial depletion syndrome (MDS) were analyzed for mutations in the TK2 and DGUOK genes. Three novel mutations were identified in TK2 (R183G, R254X, and 142insG). When we analyzed additional genes involved in the dNTPs pool, such as SLC25A19 (DNC) and NT5M (d-NT2), we did not detect mutations. The current study suggest that scanning the TK2, DGUOK, SLC25A19, and NT5M genes is likely to help about 10% of MDS families in terms of genetic counseling. Also, our findings indicate that genotype-phenotype correlations are not straightforward in MDS.     

Synovial cysts of unusual localization. 2 cases and review of the literature

Two patients with true synovial cysts in atypical sites (internal compartment of knee and inguinal hollow) were investigated by radioarthrography, ultrasound and computed tomography imaging. The cyst in the hip region originated from a dilated serous bursa of the iliopsoas muscle that did not communicate or was no longer in communication with the joint. In contrast, the cyst of the knee appeared to be a lateral synovial capsule hernia. Positive diagnosis in both cases was dependent on combined ultrasound-CT scan imaging, this eliminating a tumor (sarcoma) of soft tissues. However, affirmation of the synovial origin (mesothelial covering of the wall) of the lesion was obtained by histology only, this allowing differentiation from a "capsular" (fibrous wall) cyst, which probably provokes similar ultrasound and CT scan images.     

Results and indications of lateral ileostomy functionally terminated in colorectal surgery

Loop ileostomy (LI) ensures fecal diversion to protect an anastomosis or anatomic colorectal or ano-perineal damage. The aim of this retrospective study was to evaluate loop ileostomy morbidity in emergency and planned colorectal surgery. PATIENTS AND METHODS: From 1991 to 1996, 145 loop ileostomies were performed in 139 patients, 77 men and 62 women with a mean age of 48.7 years (15-82). The etiology was a rectal tumor (cancer or large villous tumor n = 47), inflammatory bowel disease (n = 47, ulcerative colitis = 37 and Crohn's disease = 10) Familial Adenomatous Polyposis (n = 13) and other diseases (n = 32). 80% LI (n = 116) protected ileo-anal anastomoses (n = 46) colo-anal anastomoses (n = 45, 26 with colonic pouch), ileo-rectal anastomoses (n = 11) and other anastomoses (n = 15). 20% LI (n = 29) dysfunctional ano-perineal lesions (n = 8), anastomosis leak (n = 4) or distal bowel without intestinal resection (n = 17). RESULTS: 7 deaths were not stoma-related. 91% LI were closed after a mean diversion time of 3.6 months. LI closure was performed by a parastomal (n = 128) or laparotomy procedure (n = 4). Morbidity during LI diversion was observed in 24 patients (16.5%) 12 of whom (8.3%) were operated for small bowel obstruction (n = 6; 4.2%) stoma revision (n = 5; 3.5%) and prolapse (n = 1; 0.7%). 2 patients had peristomal skin excoriations, and 5 patients required readmission for dehydration due to high LI output. Morbidity after LI closure was observed in 12 patients (8.6%) 5 of whom were operated for anastomotic leak (n = 4) or small bowel obstruction (n = 1). Low morbidity and defunctioning efficiency confirm the indications for LI. LI is our first-line stoma in planned or emergency colorectal surgery.     

EEG and cardiac activation during periodic leg movements in sleep: support for a hierarchy of arousal responses

OBJECTIVE: To investigate other physiologic changes that occur with periodic leg movements during sleep (PLMS) that might be considered to be more sensitive indices of sleep fragmentation. BACKGROUND: Although PLMS are associated with recurrent microarousals (MA), the frequency of PLMS with MA does not correlate with objective daytime sleepiness. It is postulated that the lack of correlation results from the low sensitivity of the standard criteria used to score MA. METHODS: Ten drug-free patients with a polygraphic and clinical diagnosis of restless legs syndrome (RLS) and PLMS were examined. The EEG correlates of PLMS were analyzed by visual scoring and spectral analysis during PLMS that ended in a visible microarousal (PLMS with MA) or not (PLMS without MA). The R-R interval in the EKG signal was also examined. RESULTS: A total of 34% of PLMS were associated with MA lasting >3 seconds, and 3% of PLMS were associated with MA lasting <3 seconds. Although PLMS with MA were associated with an increase in alpha activity, for PLMS without MA a significant increase in delta and theta activity was present. Both types of PLMS induced a shortening of the R-R interval; this was particularly more marked for PLMS with MA. CONCLUSIONS: First, visual scoring of MA that include a duration of less than 3 seconds has little effect on the detection of PLMS with MA. Second, EEG activation and tachycardia are present during both types of PLMS. Third, a hierarchy in the arousal response is present-going from autonomic activation to bursts of delta activity to alpha activity to a full awakening.     

Sequential changes in the synaptic structural profile following long-term potentiation in the rat dentate gyrus: I. The intermediate maintenance phase

Changes in synaptic structure have been reported following the induction of long-term potentiation (LTP). The structure of synapses during the intermediate maintenance of LTP has yet to be fully characterized in chronically implanted freely moving animals. The present study examined synapses in the middle third of the molecular layer (MML) of the rat dentate gyrus following repeated high frequency tetanization of the perforant path. Synapses from both 1) the ipsilateral inner third of the dentate molecular layer (IML), which was not directly stimulated during the induction of LTP, as well as 2) implanted, nonstimulated animals, served as controls. LTP was induced over a 4-h period, and the animals were sacrificed 24 h after the final stimulation of the LTP group. Ultrastructural quantification included the total number of synapses, synaptic curvature, the presence of synaptic perforations, and the maximum length of the synaptic contact. Although LTP was not associated with an overall increase in synaptic number, there was a significant increase in the proportion of presynaptically concave-shaped synapses. Further, the concave synapses in the LTP tissue were found to be significantly smaller than control concave synapses. There was also a significant increase in the number of perforated concave synapses which exceeded the overall increase in concave synapses, and occurred despite the lack of a general increase in perforated synapses. It was concluded that this specific structural profile, observed at 24 h postinduction, may help support the potentiated response observed at this stage of LTP maintenance.     

Who are the French plastic surgeons?

Based on data from the national advice of the Conseil National de l'Ordre des Médecins (French Medical Board), the author found 654 plastic surgeons in France and classified them into five categories, demonstrating the increasing proportion of females in this specialty.     

Phase II study of intravenous adenosine 5''-triphosphate in patients with previously untreated stage IIIB and Stage IV non-small cell lung cancer

Fifteen patients with Stage IIIB or IV non-small cell lung cancer gave informed consent to receive three or more 96-hour infusions of ATP at a dose of 50 mcg/kg/min or higher to determine whether ATP has antineoplastic activity against this tumor type and to better define the spectrum of toxicity for ATP given as a single agent. There were no objective complete or partial responses observed. The median survival of the overall group was 187 days and the median time to tumor progression was 113 days. The major toxic side effects were chest pain and dyspnea, leading to the cessation of treatment in 5 patients. We conclude that ATP at this dose and schedule of administration is an inactive agent in patients with advanced non-small cell lung cancer.     

Hemorrhagic fevers: few clues after 25 years

There is a high prevalence of Ebola antibodies found in the Kenya population, related to geographical area and season, although the clinical disease was never found and the virus was not isolated. A field study was carried out in 7 hospitals in western Kenya, 1986 -1987 (including surveillance studies in suspect areas), to intensify collection and transport of samples, testing facilities, patient observation with record keeping and follow-up. This study involved 1109 admitted patients with fever and/or bleeding, 155 contacts of haemorrahagic fever antibody (Hfab) patients, and 916 people in suspect areas. Respectively 160,44 and 80 persons were found Hfab positive mainly to Ebola, using an indirect immunofluorescent assay. From 676 viral cultures no virus was isolated. A relationship between antibody titres and ecological factors, social habitat, age, sex or season was not found. The non-specificity of IF testing was demonstrated by: 1) the disagreement between the results of two reference laboratories; 2) the unpredictability of the titre conversation course; and 3) by proving a significant cross-reactivity with Borrelia burgdorferii antibodies, Plasmodium falcparum antibodies and Salmonella typhi antibodies. Renewed testing in 1995 of 90 positive sera (with low titres) showed 19 sera to be positive by Elisa (2 in Zaire, 1 in Sudan, 9 in Reston and 7 in Cote d'Ivoire) from which 4 were confirmed by IFI 2 in Reston and 2 in Cote d'Ivoire. These findings are more proof that non-human virulent strains of Filoviridae, especially Ebola virus, are around in Kenya.