Background: The diagnostic workup for choreiform movement disorders including Huntington's disease (HD) and those mimicking HD like phenotype is complex.
Objective: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India.
Background: Fewer children than adults have been affected by the COVID-19 pandemic, and the clinical manifestations are distinct from those of adults. Some children particularly those with acute or chronic co-morbidities are likely to develop critical illness. Recently, a multisystem inflammatory syndrome (MIS-C) has been described in children with some of these patients requiring care in the pediatric ICU.
View Article and Find Full Text PDFObjective: To catalog and characterize the proteome of normal human intervertebral disc (IVD).
Methods: Nine magnetic resonance imaging (MRI) normal IVDs were harvested from 9 different brain dead yet alive voluntary organ donors and were subjected to electrospray ionization-liquid chromatography tandem mass spectrometry (ESI-LC-MS/MS) acquisition.
Results: A total of 1,116 proteins were identified.
Introduction: In order to standardize and expedite molecular biomarker testing, we implemented reflex ordered testing of targeted gene alterations in newly diagnosed lung adenocarcinomas within our hospital system.
Patients And Methods: Reflex ordered testing of specific molecular biomarkers at the time of pathologic diagnosis of lung adenocarcinoma was approved and adopted system-wide in our hospital during 2017. Through institutional review board approval, we retrospectively looked at cohort of patients whose specimens received a diagnosis of lung adenocarcinoma, with molecular biomarker testing performed at Houston Methodist Hospital between 2016 and 2018.
Aim: To compare outcomes of conventional and Hang-back methods of inferior oblique (IO) recession in V-pattern strabismus with inferior oblique overaction (IOOA).
Methods: Comparative randomized study was conducted consisting of 50 patients, age 6 to 35y having V-pattern strabismus [>15 prism diopter (PD)] with IOOA. They were divided equally in two groups and underwent IO recession, group A by conventional method and group B by Hang-back method.
Inflammasomes are cytosolic multimeric signaling complexes of the innate immune system that induce activation of caspases. The NOD-like receptor NLRP9 recruits the adaptor protein ASC to form an ASC-dependent inflammasome to limit rotaviral replication in intestinal epithelial cells, but only little is known about the molecular mechanisms regulating and driving its assembly. Here, we present the crystal structure of the human NLRP9 pyrin domain (PYD).
View Article and Find Full Text PDFSome novel magnetic behaviours in double perovskite EuCoMnO(ECMO) have been reported. The x-ray photoemission spectroscopy study shows the presence of mixed valence states of transition metal ions. The UV-visible absorption spectroscopic study suggests that the ECMO has a direct wide band gap.
View Article and Find Full Text PDFBackground: Geriatric hip fracture patients are susceptible to the adverse effects of opioid-induced analgesia. Fascia iliaca blocks (FIBs) have emerged as an analgesic technique for this population. There are limited data on a preoperative FIB's effect on perioperative opioid intake.
View Article and Find Full Text PDFBackground: Poor awareness among the patients and lack of resources for proper management of nerve injuries leads to delayed presentation of most traumatic ulnar nerve injuries. When this injury is present in the proximal forearm it leads to poor outcomes as Ulnar nerve repair with grafts takes a prolonged time to restore function. Addition of a tendon transfer to this procedure can allow patients to return to work earlier.
View Article and Find Full Text PDFThe world is currently face to face with a pandemic which is spreading rapidly across the globe caused by SARS-CoV-2, a strain of Coronaviruses (CoVs) belonging to subgenus Sarbecovirus of genus Betacoronavirus. World Health Organisation (WHO) on 11 Feb 20 named this disease caused by SARS-CoV-2 as Covid-19. This pandemic is spreading rapidly and more than 20,00,000 cases have occurred globally.
View Article and Find Full Text PDFBackground: Fascia iliaca nerve blocks relieve pain in geriatric hip fracture patients and can be administered via a single-shot or continuous catheter. We compared perioperative opioid consumption and pain scores between these two blocks.
Methods: We performed a prospective, observational cohort study, including geriatric hip fracture patients who received a preoperative block.
Ecancermedicalscience
February 2020
Multiple myeloma (MM) is the second most common haematological malignancy in the USA. MM has been linked to various autoimmune disorders in many studies; one systemic review even suggested an increased risk of MM among patients with autoimmune disorders. MM is associated with many haematological, rheumatologic and neurological conditions.
View Article and Find Full Text PDFSecondary acute myeloid leukaemia complicating the natural disease course of pre-existing Philadelphia chromosome-negative myeloproliferative neoplasms (PN-MPN) is well documented and associated with treatment challenges and significant morbidity. The incidence of a T-cell malignancy developing in patients with pre-existing PN-MPN is uncommon, with one case documented in the literature. We present two cases of angioimmunoblastic T-cell lymphoma (AITL) and one case of T-cell acute lymphoblastic leukaemia (T-ALL) that developed in patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF), respectively.
View Article and Find Full Text PDFBackground: Fascia iliaca nerve blocks (FIBs) anesthetize the thigh and provide opioid-sparing analgesia for geriatric patients with hip fracture awaiting a surgical procedure. FIBs are recommended for preoperative pain management; yet, block administration is often delayed for hours after admission, and delays in pain management lead to worse outcomes. Our objective was to determine whether opioid consumption and pain following a hip fracture are affected by the time to block (TTB).
View Article and Find Full Text PDFGood wetting is generally observed for liquid metals on metallic substrates, while poor wetting usually occurs for metals on insulating oxides. In this work, we report unexpected large contact angles for lead on two metallic approximants to decagonal quasicrystals, namely, AlCo and AlCo. Intrinsic surface wettability is predicted from first principles, using a thermodynamic model based on the Young equation, and validated by the good agreement with experimental measurements performed under ultra-high vacuum by scanning electron microscopy.
View Article and Find Full Text PDFObjectives: To compare the surgical outcomes of plication versus resection in basic type of intermittent exotropia.
Design: Prospective interventional study.
Participants: 60 patients above 6 years of age with diagnosis of basic type of intermittent exotropia.
Background: Murine model suggests programmed cell death-1 (PD-1), an immune checkpoint not only plays role in tumor escape but is also a tumor suppressor for T-cells. But until, no reports of secondary T-cell lymphoma postuse of immune checkpoint inhibitors (ICIs) has been reported. Herein, we present a hitherto unreported phenomenon of secondary T-cell lymphoma when PD-1 inhibitor was used in a patient diagnosed with a tumor of epithelial origin.
View Article and Find Full Text PDFThe vestibular incision subperiosteal tunnel access (VISTA) technique, a minimally invasive procedure, achieves multitooth recession coverage with only a single access incision. Use of fetal membranes such as the amnion and chorion has become increasingly popular in the field of dentistry due to their lack of immunogenicity and added advantage of growth factors. The present case series aimed to provide information regarding the potential advantage of placing a chorionic membrane in combination with the VISTA technique to achieve recession coverage.
View Article and Find Full Text PDFThe advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It started with the discovery of mutations in the podocin gene in steroid resistant nephrotic syndrome (SRNS). It is realized now that genetic disorders contribute to about 30% of chronic renal diseases in children, and significantly to many other kidney disorders.
View Article and Find Full Text PDFObjective: Bacterial vaginosis (BV) is a common reproductive tract infection (RTI) reported among Indian women. BV can influence the persistence of high-risk oncogenic human papillomavirus, a causative factor for cervical cancer. BV and cervical cancer are major public health issues in a developing country like India.
View Article and Find Full Text PDFAim: To evaluate functional outcome of sutureless scleral tunnel intraocular lens (SSTIOL) in children with crystalline lens subluxation of more than 7 clock hours.
Methods: A prospective interventional study was conducted consisting of 45 eyes of 44 children in age group 6-18y having >7 clock hours of lens subluxation who underwent lensectomy-vitrectomy followed by SSTIOL implantation. Primary outcome was improvement in best corrected visual acuity (BCVA) and secondary outcomes were assessment of intraocular lens (IOL) tilt using ultrasound biomicroscopy (UBM), mean change in astigmatism at last follow-up of 1y and associated complications.
. The purpose of this prospective, double-blinded randomized control pilot study was to evaluate the effect of adjunctive dexamethasone on analgesia duration and the incidence of postoperative neuropathic complication. Peripheral nerve blocks are an effective adjunct to decrease postoperative pain in foot and ankle surgery, and any possible modalities to augment their efficacy is of clinical utility.
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