Trichothiodystrophy type 4 in an Indian family

Trichothiodystrophy, non‐photosensitive type 4 (TTD4), is a rare genetic disorder with an autosomal recessive mode of inheritance. It is characterized by coarse and brittle hair, anomalies of the tissues derived from the neuro‐ectoderm (skin, hair, and nails) and intellectual disability. We herein report two male siblings aged 13 and 16 years with TTD4 and a known homozygous pathogenic variant, c.229del [p.(Arg77Glyfs*76)] in exon 1 of MPLKIP (NM_138701.3). We herein highlight the clinical and molecular findings of the first reported case of TTD4 in probands of Indian ethnicity.     

Short-term impact of COVID-19 on quality of life,perceived stress,and serious psychological distress in an adult population in the midwest United States

Quality of Life Research - This study aimed to investigate changes over time in quality of life, perceived stress, and serious psychological distress for individuals diagnosed with COVID-19 in an...     

Effect of using diode laser on Enterococcus faecalis and its lipoteichoic acid (LTA) in chronic apical periodontitis

Lasers in Medical Science - The purpose of this study was to evaluate the effect of diode laser irradiation on Enterococcus faecalis (E. faecalis) and its lipoteichoic acid (LTA). Ninety-six...     

High and low pressure pulsatile lavage of contaminated tibial fractures: an in vitro study of bacterial adherence and bone damage

OBJECTIVE: This study was designed to examine the effect of pulsatile irrigation on microscopic bone architecture and its time-dependent efficacy in removing adherent slime-producing bacteria from cortical bone. DESIGN: Using an in vitro model, ten-millimeter transverse cut sections from five human tibiae were contaminated with Staphylococcus aureus and subjected to either high pressure pulsatile lavage (HPPL; seventy pounds per square inch, normal saline) or low pressure pulsatile lavage (LPPL; fourteen pounds per square inch, normal saline) or served as controls. Alteration of bony architecture was quantified by using a previously described ordinal scale and histomorphometric analysis of each transverse cut section of tibia. To assess the time-dependent effectiveness of pulsatile lavage in removing adherent bacteria from bone, ten-millimeter transverse cut sections from ten canine tibiae were contaminated with S. aureus and subjected to high or low pressure pulsatile lavage immediately or after one, three, or six hours. Scanning electron microscopy and bacterial cultures were used to assess the removal of adherent bacteria. RESULTS: HPPL resulted in significantly greater macroscopic damage than was seen with LPPL or in controls (ANOVA, p < 0.001). Histomorphometry revealed that HPPL was associated with significantly larger and more numerous fissures or defects in the cortical bone when compared with low pressure irrigation (p < 0.001). However, high and low pressure lavage were associated with similar degrees of periosteal separation from the cortical bone surface (p = 0.87). Both high and low pressure lavage were effective in removing adherent bacteria from bone at three hours irrigation delay, but only high pressure lavage removed adherent bacteria from bone at six hours delay. CONCLUSION: In this in vitro study, compared with HPPL, LPPL led to less structural damage and was equally effective in removing bacteria within three hours debridement delay; however, the efficacy of LPPL at six hours debridement delay is questionable. This finding may have clinical significance in the development of infection following open tibial fractures.     

Predictors of return to work after anterior cervical discectomy

Return to previous level of employment after surgery is important to patients. Predictors of return to work have been well described in lumbar disc surgery. However, this information cannot be generalized to the population undergoing cervical discectomy. The authors retrospectively reviewed 67 consecutive patients who underwent anterior cervical discectomy. Strict inclusion criteria were used. Baseline demographics were recorded as well as other potential predictors of postoperative return to work such as number of levels of disease, smoking history, and disability claims. Follow-up information about work status was reviewed with each patient at office visit. Forty-five patients were found eligible for the study. At a mean follow-up of 2.8 years (SD 1.4), 38% had not returned to work by 1 year. Preoperative sick leave in this group was significantly greater than for those patients who returned to work within the year (p = 0.0014). Postoperative neck pain was more common in individuals who did not return to work after surgery (p = 0.01). Increasing age and disability claims also appeared to negatively impact the ability to return to work. Gender, type of work, smoking history, and number of levels of disc disease did not appear to have any association with postoperative return to work. The authors conclude that the duration preoperative sick leave and postoperative neck pain negatively impact postoperative work status in patients undergoing anterior cervical discectomy. Age and disability claims also influence return to work.     

Organ injuries associated with femoral fractures: implications for severity of injury in motor vehicle collisions

OBJECTIVE: To determine if motor vehicle collisions (MVCs) resulting in femoral fractures were associated with a different injury severity and pattern of injury compared with crashes in which victims did not sustain femoral fractures. METHODS: Retrospective review of seriously injured motor vehicle occupants admitted to a regional trauma unit (Hamilton General Hospital) during a 69-month period (April 1991 to December 1996) for whom detailed crash details were known. RESULTS: Data for 733 motor vehicle occupants with Injury Severity Scores greater than 12 were available; 112 occupants (15.3%) sustained femoral fractures, and 621 occupants (84.7%) did not sustain femoral fractures. Victims with femoral fractures had a significantly higher mean Injury Severity Score (29.4 compared with 25.3 for non-femoral fracture group; p<0.001). The femoral fracture group had a higher incidence of bowel (p<0.012) and hemopneumothorax (p<0.02) injuries as well as an increased incidence of upper and lower extremity (p<0.001) and pelvic (p<0.05) fractures. CONCLUSION: The presence of a femoral fracture is strongly associated with the pattern and severity of injuries sustained by occupants in MVCs. A high index of suspicion is warranted in identifying associated organ injuries in MVC victims with concomitant femoral fractures.     

Radiofrequency ablation in children

Radiofrequency (RF) catheter ablation has ushered in a new era in the management of patients with symptomatic tachyarrhythmias. By providing the ability to cure the underlying arrhythmic substrate, RF catheter ablation obviates the need for life-long antiarrhythmic drugs. In the reported series, the success has been high and the complications have been infrequent and relatively minor. Not unexpectedly, RF catheter ablation has become the treatment of choice for patients with symptomatic paroxysmal tachyarrhythmias. The role of radiofrequency catheter ablation in infants and small children remains controversial, and awaits a larger experience and longer follow-up data.     

Microbial flora of women with chronic cervicitis

The present study comprised 50 patients of chronic cervicitis attending gynaecological clinic of Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh. The aim of the study was to isolate some of the common sexually transmitted disease (STD) pathogens in chronic cervicitis. Cervical swabs were taken from the patients. The swabs were analysed by various microbiological techniques. Most (78%) of the patients harboured infection, no growth of any organism was found in 22% cases. Ureaplasma urealyticum was the predominant organism isolated in 56% of cases. It was isolated singly in 38% of cases. Various other organisms isolated singly were Chlamydia trachomatis in 2% of cases, candida species in 2% of cases, Staphylococcus epidemidis in 4% of cases, lactobacillus in 4% of cases, and Staphylococcus aureus in 2% of cases. Multiple organisms were isolated in 26% of cases.