Saethre‐Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation

Saethre‐Chotzen syndrome is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Variable expressivity is a well‐known phenomenon in this disorder. A large Indian family has been recently identified as carrying a nonsense TWIST mutation (Q28 X) in 17 members, of whom 16 were examined in detail. Only 4 (25%) of the patients showed patent craniostenosis, namely, oxycephaly. The penetrance of craniosynostosis in this family is lower than previously reported in the literature. Fifteen patients (93%) had moderate to severe ptosis. Minor limb and external ear abnormalities were present in most patients. Eyelid features were the hallmark of the disease for 12 members of the family, suggesting that mutations in TWIST may lead to a phenotype with mainly palpebral features and no craniostenosis. The clinical analysis of this large family clearly illustrates the significant variable expressivity, probably related to haploinsufficiency because of the TWIST mutation. This phenotypic variability remains unclear but could be the result of modifier genes and/or genetic background effect, as noticed previously in the transgenic twist‐null heterozygous mice. © 2002 Wiley‐Liss, Inc.     

Closed Incision Negative Pressure Wound Therapy for Elective Hip and Knee Arthroplasty: A Systematic Review and Meta-Analysis of Randomized Controlled Trials

BackgroundPersistent wound drainage after total joint arthroplasty (TJA) increases the risk of surgical site infections (SSIs). Closed incision negative pressure wound therapy (ciNPWT) decreases infections in traumatic wounds, but evidence for its use after elective TJA is limited. The purpose of this meta-analysis of level I studies is to determine the effect of ciNPWT on risk of SSI and wound complications following TJA.MethodsMEDLINE, EMBASE, CINAHL, and Cochrane Library were searched for randomized controlled trials comparing ciNPWT vs standard dressings after total hip (THA) and total knee arthroplasty (TKA). Studies exclusively involving THA for femoral neck fractures were excluded. Risk of SSI and noninfectious wound complications (blisters, seroma, hematoma, persistent drainage, dehiscence, and wound edge necrosis) following TJA were analyzed.ResultsSSI risk was lower with ciNPWT compared to standard dressings (3.4% vs 7%; relative risk [RR] 0.48, P = .007), specifically in revision THA and TKA (4.1% vs 10.5%; RR 0.41, P = .03). ciNPWT increased the noninfectious complication risk after primary TKA (RR 4.71, P < .0001), especially causing wound blistering (RR 12.66, P < .0001). ciNPWT decreased hospital length of stay by 0.73 days (P = .04) and reoperation rate (RR 0.28, P = .01).ConclusionciNPWT decreases SSI risk compared to standard dressings after revision TJA, but not primary TJA. ciNPWT is associated with >12-fold increased risk of wound blistering after primary TKA. ciNPWT plays a role in revision TJA management, but additional randomized controlled trials with uniform wound assessment methods must be performed to sufficiently power findings and draw conclusions on the use of ciNPWT after primary TJA.     

Open Classic Latarjet Procedure Performed Using Freehand Technique—Surgical Technique and Outcome

IntroductionLatarjet procedure is commonly performed for recurrent anterior shoulder instability with glenoid side bone loss. Classic Latarjet procedure can be performed using specially designed drill guides, jigs, or by freehand technique. Here we have described a technical note on classic Latarjet procedure performed with freehand technique utilizing simple rulers and caliper. The functional and radiological outcomes of our patients have also been analysed.Material and Methods149 open classic Latarjet procedures were performed using our technique between March 2015 and July 2018. The mean age of the patients was 32.95 years (Range 22–59 years). The functional outcome of the patients was measured using Western Ontario Shoulder Instability (WOSI) and Oxford Shoulder Instability Score (OSIS) at 2 years of follow-up. Screw and graft positioning were studied in 24 consecutive patients with a postoperative computed tomography (CT) scan.ResultsThere was no incidence of recurrent subluxation or dislocation post-surgery. Mean OSIS score increased from 15.63 ± 3.20 preoperatively to 42.44 ± 3.88 postoperatively (p value < 0.05). WOSI score decreased significantly from 62.54% ± 8.24 to 10.26 ± 6.33 postoperatively at 2-year follow-up (p value < 0.05). Postoperative CT scan also showed satisfactory screw placement in all patients.ConclusionOpen Latarjet procedure performed using freehand technique provides good functional and radiological outcomes in patients with recurrent anterior shoulder instability with glenoid side bone loss.Supplementary InformationThe online version contains supplementary material available at 10.1007/s43465-021-00385-7.     

Effect of Pesticides and Chemical Fertilizers on the Nitrogen Cycle and Functional Microbial Communities in Paddy Soils: Bangladesh Perspective

Bulletin of Environmental Contamination and Toxicology - The concept of the Nitrogen (N) cycle has been modified over the years based on certain new pathways, including comammox, anammox, and DNRA...     

Mycosis fungoides : Tumour D'emblee

A 60-years old male patient presented with nodules and noduloulcerative lesions of mycosis fungoides (MF) of 6 months duration without any previous premycotic, patch or plaque stage.     

Measurement of surface alpha contamination using electret ion chambers.

Electret ion chambers are inexpensive, light-weight, commercially available, passive charge-integrating devices for accurate measurement of different radiations. Performance of electret ion chambers for surface alpha contamination measurement was evaluated. Ion chambers of two types and electrets of three thicknesses were used for the study. Calibration of the electret ion chambers was performed using reference alpha standards of different energies and radioactivities. Effects of various parameters such as chamber dimensions, electret thickness, alpha particle energy, position of alpha source from the chamber centerline, source localized or uniformly distributed, level of alpha contamination, Mylar window covering the chamber, and ambient radon and gamma radiation on the response of the electret ion chambers were determined. Suitable combinations of chambers and electrets to measure surface alpha contamination were determined.     

Nutritional status of pavement dweller children of Calcutta City

Pavement dwelling is likely to aggravate malnutrition among its residents due to extreme poverty, lack of dwelling and access to food and their exposure to polluted environment. Paucity of information about nutritional status of street children compared to that among urban slum dwellers, squatters or rural/tribal population is quite evident. The present study revealed the magnitude of Protein Energy Malnutrition (PEM) and few associated factors among a sample of 435 underfives belonging to pavement dweller families and selected randomly from clusters of such families, from each of the five geographical sectors of Calcutta city. Overall prevalence of PEM was found almost similar (about 70%) to that among other 'urban poor' children viz. slum dwellers etc., but about 16% of them were found severely undernourished (Grade III & V of IAP classification of PEM). About 35% and 70% of street dweller children had wasting and stunting respectively. Severe PEM (Grade III & IV) was more prevalent among 12-23 months old, girl child, those belonged to illiterate parents and housewife mothers rather than wage earners. It also did increase with increase of birth rate of decrease of birth interval.     

Primary liposarcoma of the orbit: a clinicopathological study

Primary liposarcoma of the orbit is a rare tumour. There are very few cases of orbital liposarcoma reported in the literature, mostly of the myxoid variety. In this paper, the authors report the clinical presentation, histopathological features, results of diagnostic studies and management of a case of orbital low grade myxoliposarcoma with local recurrence, together with a review of the literature.