Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome

The purpose of the present study was to investigate substitutions in the D-loop of mitochondrial DNA (mtDNA) in sudden infant death syndrome (SIDS) and controls, since several observations indicate the involvement of mtDNA mutations in SIDS. These include elevated levels of vitreous humour hypoxanthine in SIDS victims, familial clustering without mendelian traits, and observations of increased sleepiness and a lower activity score in infants who later succumbed to SIDS. Eighty-two cases of SIDS and 133 controls were investigated and the D-loop sequences were recorded in the base-pair range 16 055-16 500 in the mtDNA sequence. The sequencing was carried out using the Applied Biosystems Sequenase dye terminator method and a ABD373A sequencer. The recorded D-loop sequences were compared with the Cambridge sequence and differences were recorded as substitutions. The SIDS cases had a tendency towards a higher substitution rate in the D-loop than the controls ( p = 0.088). This observation makes it interesting to search for deleterious mutations in other locations in the mtDNA.     

Blunt breast trauma: is there a standard of care?

The incidence of female blunt breast trauma (FBBT) is unknown, and there are no established treatment guidelines. The purpose of this study was to establish the incidence of FBBT, define associated injuries, and develop a treatment algorithm. This is a retrospective analysis of FBBT at a Level I trauma center from October 2000 through December 2008. The incidence, mechanism, and severity of injury, associated injuries, therapeutic interventions, and clinical outcomes were evaluated. A total of 14,499 patients were evaluated. Of these, 13,637 were blunt trauma victims and 5,305 were female blunt trauma victims. One hundred and eight (2%) were diagnosed with FBBT. Although the average injury severity score (ISS) was 12.3 for all FBBT patients, 60 per cent of patients had an ISS > 15. Ninety-four per cent were caused by motor vehicle crashes, with the most common injuries being long bone fractures (45%) and rib fractures (44%). One hundred and one (93.5%) of the injuries were simple hematomas managed expectantly; seven patients (6.5%) had expanding hematomas with radiological evidence of active bleeding that ultimately required invasive procedures, with six of them undergoing arteriogram and four successfully embolized. One patient was taken directly to the operating room for surgical ligation of a bleeding vessel. These data represent the largest series of breast injuries ever reported. Because FBBT is a marker for severe associated injuries, our treatment algorithm recommends that women with radiological evidence of active bleeding who are hemodynamically stable be evaluated with a chest arteriogram plus or minus embolization. However, unstable patients with no other source of hemorrhage should undergo definitive urgent operative repair. All other patients should be managed expectantly.     

Behçet's disease and hearing loss

OBJECTIVES: The aim of this study was to determine the incidence and severity of hearing loss in different frequencies in Beh?et's patients in a Turkish population. MATERIAL AND METHOD: Sixty-three consecutive cases with Beh?et's syndrome and 63 sex- and age-matched healty subjects as control group were included in this study. A detailed history was taken, all patients underwent neuro-otolological, ophthalmologic and dermatologic examination. Audiometric pure-tone thresholds at 125-8000Hz were obtained in all subjects in both groups. The results of the two groups were statistically evaluated by Chi-square, Student's-t and McNemar tests. RESULTS: In 35 patients (55%), a hearing loss equal or more than 30dB hearing level was detected. 24 of 35 patients (68%) showed hearing loss in the higher frequencies (6 and 8kHz). 12 of 35 patients (34%) showed hearing loss in speech frequencies (500-2000Hz). No relationship could be found between hearing loss and other system involvements in Beh?et's group. Also there was no correlation between hearing loss and duration of the disease, but the mean age of Beh?et's patients with hearing loss was found to be significantly higher than the mean age of the patients without hearing loss. CONCLUSION: We suggest that presence of hearing loss in Beh?et's disease is prevalent and represents a fourth clinical symptom after oral, genital ulcers and skin lesions and especially there is a statistically significant hearing loss at high frequencies when compared with the speech frequencies.     

TO STUDY INCIDENCE OF CHLAMYDIAL GENITAL TRACT INFECTIONS USING ENZYME IMMUNO ASSAY-ANTIGEN DETECTION AND CELL CULTURE METHODS

Endocervical swabs from 315 patients were screened for chlamydial infection by using Enzyme Immuno Assay technique for antigen detection. Of these, 190 patients were of infertility and 125 patients were with history suggestive of pelvic inflammatory disease (PID). 100 age matched controls were also screened for the detection of chlamydial antigen by using EIA. The overall incidence of chlamydial infection in this study group was 15.2%. 21 (11.05%) of the infertility patients and 27 (21.6%) of the pelvic inflammatory disease cases were found to be positive for chlamydial antigen. The prevalence rate was found to be high in the age group of 31–40 years in both study groups i.e. infertility group (14.7%) and PID group (50%). All the ELISA positive cases (48) and randomly selected (10) age matched controls were screened by tissue culture using McCoy cell line. In the tissue culture, 44 of the 48 samples were found to be positive and none of the controls groups were found positive. 4 samples showed discordant results possibly due to the presence of non-viable organism or inhibitory material present at the sample site. The sensitivity and specificity of ELISA with respect to tissue culture are 100% and 71% respectively. The positive predictive value and the negative predictive value of the ELISA are 91.6% and 100% respectively. The efficiency of the test was found to be 93.1%.Key Words: Chlamydia trachomatis, Infertility, PID     

Modulation of Penile Erection in Rabbits by Mondia Whitei: Possible Mechanism of Action

Mondia whitei root was evaluated to validate its anecdotal use and determine its possible mode of action in the management of erectile dysfunction. Rabbits were administered with daily oral doses of 100–400 mg kg⁻¹ crude ethanolic extract of M. whitei and sildenafil (50 mg kg⁻¹) as positive control for 6 weeks. Cavernosal tissue NOS activity and levels of NO and cGMP, and NOS and PDE protein expressions were investigated. The effect of the crude extract, chloroform and petroleum ether fractions in vitro on cavernosal tissue NOS activity and levels of NO and cGMP at 0.01 and 0.10 mg g⁻¹ tissue were also investigated. Results indicate that the crude extract increased NOS activity by 7% at 200 mg kg⁻¹ with corresponding increases in NO (88%) and cGMP (480%) levels. No significant changes in these measurements were observed with the 100 and 400 mg kg⁻¹ doses whilst sildenafil slightly reduced them (15.9–37.5%). NOS and PDE protein expressions in test animals were not different from controls. Pre-incubation of cavernosal tissue in vitro with the crude extract of M. whitei and its chloroform fraction markedly increased NOS activity (26–132%) and levels of NO (25%) and cGMP (50–400%) at 0.01 mg g⁻¹ tissue but these were reduced to near control levels when their concentrations were increased to 0.10 mg g⁻¹ tissue whilst the petroleum ether fraction had no effect. These findings suggest that M. whitei may influence erectile function through activation/stimulation of NOS with corresponding increases in tissue NO and cGMP levels and that certain chemical constituents present in the chloroform fraction may be responsible for biological activity.