Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

Journal of Neurology - Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic...     

Safety of same-day discharge after laparoscopic sleeve gastrectomy: propensity score–matched analysis of the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program Registry

BackgroundInformation on the safety of outpatient sleeve gastrectomy is sparse.ObjectiveThis study aimed to assess the safety of sleeve gastrectomy as a day case surgery.SettingUniversity health network, United States.MethodsPatients who underwent primary sleeve gastrectomy were identified in the 2015–2017 MBSAQIP database. Day case surgery procedure was defined as having a hospital length of stay of 0 days. Day case surgery patients were matched with inpatient controls using propensity score matching. The primary outcome was 30-day mortality.ResultsA total of 271,658 sleeve gastrectomy patients met the inclusion criteria. Of these, only 7825 (2.88 %) were day case surgery procedures. There was no mortality in the group. Day case surgery, compared with inpatient sleeve gastrectomy, was associated with a similar risk of a leak (.56% versus .40%; relative risk [RR], 1.419; 95% CI, .896–2.245; P = .133), bleeding (.38% versus .31%; RR, 1.250; 95% CI, .731–2.138; P = .414), 30-day reoperation (.81% versus .56%; RR, 1.432; 95% CI, .975–2.104; P = .066), and 30-day morbidity (1.15% versus 1.01%; RR, 1.139; 95% CI, .842–1.541; P = .397). Outpatients’ SG increased the risk for 30-day readmission (3.35% versus 2.79%; RR, 1.202; 95% CI, 1.009–1.432; P = .039).ConclusionsSleeve gastrectomy in the outpatient setting as a day case surgery was associated with no mortality and no statistically significant risk of reoperation, leakage, or bleeding compared with patients admitted to inpatient units. The readmission rate was higher in the day case surgery group.     

Acute in vitro and in vivo toxicity of a commercial grade boron nitride nanotube mixture

Boron nitride nanotubes (BNNTs) are an emerging engineered nanomaterial attracting significant attention due to superior electrical, chemical and thermal properties. Currently, the toxicity profile of this material is largely unknown. Commercial grade BNNTs are composed of a mixture (BNNT-M) of ～50–60% BNNTs, and ～40–50% impurities of boron and hexagonal boron nitride. We performed acute in vitro and in vivo studies with commercial grade BNNT-M, dispersed by sonication in vehicle, in comparison to the extensively studied multiwalled carbon nanotube-7 (MWCNT-7). THP-1 wild-type and NLRP3-deficient human monocytic cells were exposed to 0–100?µg/ml and C57BL/6?J male mice were treated with 40?µg of BNNT-M for in vitro and in vivo studies, respectively. In vitro, BNNT-M induced a dose-dependent increase in cytotoxicity and oxidative stress. This was confirmed in vivo following acute exposure increase in bronchoalveolar lavage levels of lactate dehydrogenase, pulmonary polymorphonuclear cell influx, loss in mitochondrial membrane potential and augmented levels of 4-hydroxynonenal. Uptake of this material caused lysosomal destabilization, pyroptosis and inflammasome activation, corroborated by an increase in cathepsin B, caspase 1, increased protein levels of IL-1β and IL-18 both in vitro and in vivo. Attenuation of these effects in NLRP3-deficient THP-1 cells confirmed NLRP3-dependent inflammasome activation by BNNT-M. BNNT-M induced a similar profile of inflammatory pulmonary protein production when compared to MWCNT-7. Functionally, pretreatment with BNNT-M caused suppression in bacterial uptake by THP-1 cells, an effect that was mirrored in challenged alveolar macrophages collected from exposed mice and attenuated with NLRP3 deficiency. Analysis of cytokines secreted by LPS-challenged alveolar macrophages collected after in vivo exposure to dispersions of BNNT-M showed a differential macrophage response. The observed results demonstrated acute inflammation and toxicity in vitro and in vivo following exposure to sonicated BNNT-M was in part due to NLRP3 inflammasome activation.     

Medial femoral condyle fracture following traumatic allogenic bone transfer – A case report

Open fractures can cause an “out-in” injury, wherein a foreign body can penetrate the skin causing fracture. There are few reports of allogenic bone getting embedded in soft tissue, but one causing fracture to the host bone has not been reported till date. We present a case, wherein a large cortical bony fragment from one individual penetrated the thigh of another person causing fracture of medial femoral condyle during a head-on collision involving two motorbikes.     

Epilepsy clinic services, nice guidelines and patient satisfaction-An audit.

OBJECTIVE: To audit the performance of the paediatric epilepsy services in a district general hospital based on NICE guidelines and parent satisfaction. DESIGN: Retrospective audit. SETTING: Paediatric epilepsy clinic in a district general hospital. PATIENTS: Consecutive children (n=54) with epilepsy attending the paediatric epilepsy clinic over a 4-month period. METHODOLOGY: Data from hospital notes was recorded in standardized study forms, which was subsequently entered into database and analysed independently. A parent/patient satisfaction survey was also conducted over the same period involving the same study population by sending out a postal questionnaire. OUTCOME MEASURE: NICE epilepsy audit criteria and patient/carer satisfaction measured using the standards published by Webb et al. RESULTS: The results show that the service achieved almost all the key targets set out in the NICE guidelines but performed less well in the parent satisfaction survey. CONCLUSION: This audit suggests that in addition to NICE guidelines, an evaluation of parent/patient satisfaction should form part of assessment of the quality of paediatric epilepsy service.     

Invasive therapy versus conservative therapy for patients with stable coronary artery disease: An updated meta‐analysis

BackgroundHeart disease remains the leading cause of death in the United States. Although there are clear indications for revascularization in patients with acute coronary syndromes, there is debate regarding the benefits of revascularization in stable ischemic heart disease. We sought to perform a comprehensive meta‐analysis to assess the role of revascularization compared to conservative medical therapy alone in patients with stable ischemic heart disease.HypothesisThere is no significant difference in all‐cause mortality or cardiovascular mortality between invasive and medical arms.MethodsWe performed a systematic literature search from January 2000 to June 2020. Our literature search yielded seven randomized controlled trials. We analyzed a total of 12 013 patients (6109 in revascularization arm and 5904 in conservative medical therapy arm). Primary outcome was all‐cause mortality. Secondary outcomes included major adverse cardiac events (MACE) (death, myocardial infarction [MI], or stroke), cardiovascular mortality, MI, and stroke. Additional subgroup analysis for all‐cause mortality was performed comparing percutaneous coronary intervention (PCI) with bare metal stent versus conservative therapy; and PCI with drug eluting stent versus conservative therapy.ResultsThere was no statistically significant difference in primary outcome of all‐cause mortality between either arm (odds ratio [OR] = 0.95; 95% CI [confidence interval], 0.83 to 1.08; p = .84). There were statistically significant lower rates of MACE (death, MI or stroke) in the revascularization arm when compared to conservative arm.ConclusionsOur analysis did not show any survival advantage of an initial invasive strategy over conservative medical therapy in patients with stable coronary artery disease (CAD).