Synaptic Nuclear Envelope Protein 1 (SYNE 1) Ataxia with Amyotrophic Lateral Sclerosis-like Presentation: A Novel Synaptic Nuclear Envelope Protein 1 (SYNE 1) Gene Deletion Mutation from India.

A 24-year-old female presented with wasting and weakness of both hands and fasciculations over the chin since 12 years, followed by imbalance while walking and speech changes since 10 years. Her 12-year-old sister also had a similar clinical presentation. There were fasciculations over the chin, tongue, hands, back, thighs with wasting and weakness in tongue, and C7, C8, T1 segments in both upper limbs along with bipyramidal signs.

Psychological impact of COVID-19 lockdown: An online survey from India.

Background: The COVID-19 pandemic has led to a complete shut-down of the entire world and almost all the countries are presently in a "lockdown" mode. While the lockdown strategy is an essential step to curb the exponential rise of COVID-19 cases, the impact of the same on mental health is not well known.

Aim: This study aimed to evaluate the psychological impact of lockdown due to COVID-19 pandemic on the general public with an objective to assess the prevalence of depression, anxiety, perceived stress, well-being, and other psychological issues.

A new model to predict response to direct-acting antiviral therapy in decompensated cirrhotics due to hepatitis C virus.

Aim: Decompensated hepatitis C virus (HCV) cirrhosis is a difficult to treat cohort, and there is no gold standard predictor of response to direct-acting antiviral (DAA) therapy. We conducted this study to look for factors responsible for improvement in post-therapy status, i.e.

Paediatric Intussusception: A Clinical Scoring System to Predict the Risk of Operative Intervention.

Background: Intussusception is a common cause of obstruction in paediatric patients. Rapid clinical recognition and treatment is important to prevent potentially fatal complications. The present study aims to derive a clinical scoring system for prediction of risk of operative intervention in patients with intussusception.

Esophageal Mucosal Bridge of Unknown Etiology Causing Dysphagia in an Elderly Female: Endoscopic Management and Literature Review.

Esophageal mucosal bridge is an elastic stretchable structure, connecting across the lumen, extending either obliquely or horizontally, more commonly seen in the mid or lower esophagus. It can be either congenital or secondary (acquired). Acquired ones are secondary to reflux esophagitis, corrosive esophageal injury, drug-induced esophagitis, radiation esophagitis, Crohn's disease, Mallory-Weiss syndrome, malignant tumors, and infections like candidiasis, HSV, CMV, or tuberculosis.

Diabetes Mellitus-A Risk Factor for the Development of Lumbar Disc Degeneration: A Retrospective Study of an Indian Population.

Study Design: A retrospective study.

Objectives: To determine the association between type-2 diabetes mellitus (T2DM) and the severity of lumbar disc degeneration disease (LDDD).

Methods: We included 199 patients with low back pain (LBP) who visited our hospital from 2016 to 2018.

A prospective, multi-center, open-label, single-arm phase 2b study of autologous adult live cultured buccal epithelial cells (AALBEC) in the treatment of bulbar urethral stricture.

Purpose: To evaluate the safety and efficacy of autologous adult live cultured buccal epithelial cells (AALBEC) in treatment and management of bulbar urethral stricture in men.

Methods: This was a prospective, multi-center, open-label, single-arm phase 2b study. A total of 18 male patients with bulbar urethral stricture of at least 1 - 4 cm in length were enrolled in the study.

"Esophagomediastinal fistula presenting as drug resistant tuberculosis".

Esophageal tuberculosis is one of the rarest forms of tuberculosis with higher incidence in immunocompromised cases. In majority of cases it is seen associated with esophagomediastinal and esophagotracheal fistulas. Diagnosis is established with the help of esophagoscopy followed by histopathology and microbiological analysis of biopsy sample.

Appraisal of Critically Ill COVID-19 Patients at a Dedicated COVID Hospital.

Purpose: To study the pattern of severe COVID-19 to reduce morbidity and mortality.

Methods: It was an observational cohort study for comprehensive clinical analysis of critically ill COVID-19 patients at a dedicated COVID public hospital.

Results: Total 373(13.

Transcutaneous Electrical Neuromuscular Stimulation (TENS) Along with Traditional Dysphagia Therapy in Patients with Posterior Stroke: A Case Study.

Swallowing is a complicated, multilevel and neuromuscular physiological function. Transcutaneous neuromuscular electrical stimulation is a relatively new therapeutic intervention for the treatment of swallowing disorders. The aim was to administer and focus on pre and post therapy effects of traditional dysphagia therapy and electrical stimulation (TENS) in 2 participants with posterior stroke.

Preparation and Standardization of Escherichia coli Nosodes Sourced from Select E. coli Strains.

Background: The nosodes are well-known preparations in homeopathy that are sourced from organisms and diseased materials. More than 40 known nosodes have been used in homeopathic practice for over a century. Having identified the need for scientifically developed new nosodes sourced from organisms that are currently prevalent, the preparation of nosodes from different strains of the bacterium is presented in this article.

Clinicopathological and Imaging Features Predictive of Clinical Outcome in Metaplastic Breast Cancer.

Background: Metaplastic breast cancer (MC) is a rare disease, thus it is difficult to study its clinical outcomes.

Objectives: To investigate whether any clinicopathological or imaging features were associated with clinical outcome in MC.

Methods: We retrospectively evaluated the clinicopathological and imaging findings, and the clinical outcomes of seventy-two pathologically confirmed MCs.

Women's age and total motile normal morphology sperm count predict fecundability: a prospective cohort study.

Objective: This study investigated the role of women's age, serum anti-Müllerian hormone (AMH) level and semen parameters in predicting fecundability.

Methods: This was a prospective cohort study on couples attending for preconceptional health check. Occurrence of conception at 1 year after ceasing contraception and time to pregnancy were noted by telephone follow-up.

A case report on expanding horizon of endobronchial ultrasound through esophagus.

Endobronchial ultrasound has revolutionized the field of bronchoscopy and has become one of the most important tools for the diagnosis of intrathoracic lymphadenopathy and para-bronchial structures. The reach of this technique has not been limited to these structures and pleural lesions have been at times accessible. To our knowledge, pleural fluid collections have not been accessed with endobronchial ultrasound (EBUS) through oesophageal approach and rationale behind using this approach.

Hyperglycemia and its influence on development of lumbar degenerative disc disease.

Study Design: A Retrospective observational study.

Objectives: To determine the influence of hyperglycemia on severity of lumbar degenerative disc disease (LDDD).

Methods: We retrospectively included 199 patients with low back pain (LBP) who visited our tertiary care hospital from June 2016 to December 2018.

The use of gracilis muscle flap as a cover of tabularized buccal mucosal graft in the posterior urethral injury.

This is a case report of 35-year-old male patient, who underwent abdominoperineal resection for rectal cancer. There was postoperative wound complication which resulted in the formation of sinus in the perineal wound. During excision of the sinus tract, there was injury to the posterior urethra which leads to the formation of urethrocutaneous fistula presenting as urinary incontinence.

Tuberculosis in 2019.

Tuberculosis (TB) updates and guidelines have been published rapidly in last few years. The WHO and RNTCP have recommended suggestions that have changed the diagnostics and therapeutics paradigm in 2019. The rapid nature of these changes need to be appraised at the pulmonologist end.

Clinical, radiological and functional results of transforaminal lumbar interbody fusion in degenerative spondylolisthesis.

Purpose: To evaluate the clinical, functional and radiographic outcomes of transforaminal lumbar interbody fusion (TLIF) in degenerative low-grade spondylolisthesis.

Materials And Methods: A prospective observational study of 120 consecutive patients (M: = 24:96) with spondylolisthesis operated with TLIF. Clinical and functional outcome was assessed on Visual analogue Scale (VAS) and Oswestry Disability Index(ODI).

Osteoporotic burst fracture-clinical, radiological and functional outcome of three-column reconstruction using single posterior approach (Instrumentation, Corpectomy, Arthroscope Assisted Transpedicular Decompression and Mesh Cage).

Purpose: To evaluate a novel effective procedure utilizing three-column reconstruction via a posterior approach with a technique that utilizes an arthroscope to visualize the anterior surface of the dura during decompression.

Methods: A Prospective Study. 80 Osteoporotic vertebral burst fracture patients with similar demographic data managed by three-column reconstruction through single posterior approach surgery: Pedicle screw fixation, Corpectomy, Arthroscope Assisted Transpedicular Decompression (AATD) and Fusion (Mesh Cage + Bone grafting).

Novel use of the endobronchial ultrasound through esophagus (EUS-B): Diagnosis of thyroid lesions.

There is paucity in literature on the use of endobronchial ultrasound through esophagus (EUS-B) for the diagnosing thyroid gland lesions. We report the first case of colloid goiter diagnosed using EUS-B- FNA technique. A 77-year-old man presented with ophthalmic symptoms and an incidental finding of lung nodule on chest x-ray.

Ocular basidiobolomycosis - Rare presentation: A case report.

Basidiobolus ranarum is an uncommon pathogen in ocular infections. It has been previously reported from subcutaneous and gastrointestinal infections. Here, we report a rare case of ocular infection caused by B.

COMBINED NS5A & NS5B NUCLEOTIDE INHIBITOR THERAPY FOR PATIENTS WITH CHRONIC HEPATITIS C WITH STAGE 5 CHRONIC KIDNEY DISEASE ON HEMODIALYSIS.

Background: Hepatitis C virus (HCV) infection is the most common hepatotropic viral infection affecting the patients on maintenance hemodialysis. Treatment of chronic HCV infection in stage 4 and 5 CKD includes a combination of elbasvir/grazoprevir and glecaprevir/pibrentasvir, which are not available in many countries.

Objective: Hence, we have conducted this study to look for the safety and efficacy of sofosbuvir combination therapy in this difficult to treat population.