C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.

Hexanucleotide repeat expansion in C9orf72 is defined as a major causative factor for familial amyotrophic lateral sclerosis (ALS). The mutation frequency varies dramatically among populations of different ethnicity; however, in most cases, C9orf72 mutant has been described on a common founder haplotype. We assessed its frequency in a study cohort involving 593 clinically and electrophysiologically defined ALS cases.

Preliminary Normative Standards of the Mayo Clinic Esophagectomy CONDUIT Tool.

Objective: To collect patient-reported outcomes after esophagectomy to establish a set of preliminary normative standards to aid in symptom-score interpretation.

Patients And Methods: Patients undergoing esophagectomy often have little understanding about postoperative symptom management. The Mayo Clinic esophageal CONDUIT tool is a validated questionnaire comprising 5 multi-item symptom-assessment domains and 2 health-assessment domains.

Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation.

Clonal hematopoiesis is associated with various age-related morbidities. Error-corrected sequencing (ECS) of human blood samples, with a limit of detection of ≥0.0001, has demonstrated that nearly every healthy individual >50 years old harbors rare hematopoietic clones below the detection limit of standard high-throughput sequencing.

Evidence for Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India.

Resistance to anti-leprosy drugs is on the rise. Several studies have documented resistance to rifampicin, dapsone, and ofloxacin in patients with leprosy. We looked for point mutations within the folP1, rpoB, and gyrA gene regions of the genome predominantly in the neural form of leprosy.

General properties of auditory spectro-temporal receptive fields.

The analyses of more than 2000 spectro-temporal receptive fields (STRFs) obtained from the ferret primary auditory cortex revealed their dominant encoding properties along time and frequency domains. Results showed that the peak responses of the STRFs were roughly aligned along the time axis, and enhanced low modulation components of the signal around 3 Hz. On the contrary, the peaks of the STRF population along the frequency axis varied and were distributed widely.

Image collection of 3D-printed prototypes and non-3D-printed prototypes.

Image processing refers to the use of computer algorithms to manipulate and enhance digital images to improve their quality or to make them more suitable for tasks such as classification. Common benchmarking datasets in this field include the imagenet, CIFAR-100, and MNIST datasets. This dataset is a collection of images that are particularly relevant to engineering and design, consisting of two categories: 3D-printed prototypes, and non-3D-printed prototypes This data was collected through a hybrid approach that entailed both web scraping and direct collection from engineering labs and workspaces at Penn State University.

Cytological diagnosis in a clinically unsuspected case of disseminated BCGosis: A case report.

Bacille Calmette-Guerin (BCG) vaccine is administered worldwide to neonates and considered safe. Serious complications like disseminated BCGosis are extremely rare occurrences (<1 per million vaccinations). A 6 months male was brought to paediatric outpatient department with fever and swelling over the dorsum of the left hand for 5 days.

Tongue Base Schwannoma.

Intraoral schwannomas account for 1% of head and neck schwannoma, with tongue base schwannoma being reported rarely. In an English literature search from 1988 to 2014, not more than 38 cases of tongue base schwannoma have been reported. Large tongue base schwannomas pose a significant risk to airway, thereby calling for an early intervention.

Reduction of large soft-tissue Gaucheromas with substrate reduction therapy.

Soft-tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30-year-old patient with Gaucher disease type 3, receiving β-glucocerebrosidase enzyme replacement therapy (ERT), who presented with slowly enlarging masses infiltrated with Gaucher cells along her back. Substrate reduction therapy introduced in addition to ERT, resulted in significant reduction of the large masses.

Attic retraction pockets: Classification system.

Introduction: Although attic retractions have previously been classified into Grades 0 through IV, it is often not possible to assign attic retraction pockets into a single specific category. The present study describes an improved classification system based on otoscopic and endoscopic visualization of the retraction pocket fundus, the ossicular status in the attic, degree of scutal erosion, and the presence or absence of cholesteatoma.

Materials And Methods: One hundred and fifty-four patients (200 ears) with different grades of attic retraction pockets who were seen by a tertiary referral otology center between August 2015 and July 2018 were selected for this study.

Fertility Preservation for Child and Adolescent Cancer Patients in Asian Countries.

At present, fertility is one of the main concerns of young cancer patients. Following this trend, "fertility preservation (FP)" has been established and has become a new field of reproductive medicine. However, FP for child and adolescent (C-A) cancer patients is still developing, even in advanced countries.

The toxicological effects of lead and its analytical trends: an update from 2000 to 2018.

In every developed and developing country, the major facing problem is heavy metals toxicity. Due to there is an increase in the heavy metals anthropogenic in day to day life by various factors, which are causing serious issues or harmful health hazardous for all types of living organisms. Moreover, they are present everywhere in the universe it causes the contamination of the food, dietary, and processed materials.

Facial Nerve Decompression After Temporal Bone Fracture-The Bangalore Protocol.

Our tertiary otology center treats facial weakness and paralysis after motor vehicle crashes. We evaluate these patients with physical exam, audiogram, Schirmer's test, and CT scan. Our protocol for management of the facial weakness provides good results for our patients.

Distinct recruitment of dorsomedial and dorsolateral striatum erodes with extended training.

Hypotheses of striatal orchestration of behavior ascribe distinct functions to striatal subregions, with the dorsolateral striatum (DLS) especially implicated in habitual and skilled performance. Thus neural activity patterns recorded from the DLS, but not the dorsomedial striatum (DMS), should be correlated with habitual and automatized performance. Here, we recorded DMS and DLS neural activity in rats during training in a task promoting habitual lever pressing.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, associated mainly with the severe neurometabolic disease combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). We previously reported a single family with a homozygous missense variant in SLC25A1 with a phenotype restricted to relatively mild CMS with intellectual disability, but to date no additional cases of this CMS subtype had been reported.

Family Caregivers' Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India.

Motor neuron disease (MND) is a progressive neurodegenerative disease. Ideal management plan in MND includes palliative care initiated from the time of diagnosis. At present, most of the neurodegenerative conditions are cared for at home.

Establishing an Anti-Müllerian Hormone Cutoff for Diagnosis of Polycystic Ovarian Syndrome in Women of Reproductive Age-Bearing Indian Ethnicity Using the Automated Anti-Müllerian Hormone Assay.

Context: Polycystic ovary syndrome diagnosed by Rotterdam criteria, is the most common cause of anovulatory infertility. The criteria of polycystic ovarian morphology (PCOM) are subject to operator variability and technological advances. Serum anti-Müllerian hormone (AMH) level has been proposed as a more reliable alternative to antral follicle count.

SIC-8000 versus hetastarch as a submucosal injection fluid for EMR: a randomized controlled trial.

Background And Aims: Viscous solutions provide a superior submucosal cushion for EMR. SIC-8000 (Eleview; Aries Pharmaceuticals, La Jolla, Calif) is a commercially available U.S.

Complete Genome Sequences of Newcastle Disease Virus Isolates from Backyard Chickens in Northern India.

The molecular characterization of three Newcastle disease viruses (NDV) isolated from backyard chickens in the state of Haryana, India, was undertaken. Two genotype II strains and one genotype XIIIc class II isolate with genome sizes of 15,186 and 15,192 nucleotides (nt), respectively, were identified.

Carriage of Class 1 integrons and molecular characterization of gene in multidrug-resistant spp. isolates from broilers.

Aim: The present study was conducted with the following aims: (i) To screen the spp. isolates recovered from suspected cases of fowl typhoid for carriage of Class 1 integrons and analyze their association with antimicrobial resistance and (ii) to carry out molecular characterization and phylogenetic analysis of Class 1 integron-integrase () gene.

Materials And Methods: A total of 43 isolates were subjected to polymerase chain reaction (PCR) assay to determine the presence of Class1 .

The Development of an International Oncofertility Competency Framework: A Model to Increase Oncofertility Implementation.

Background: Despite international evidence about fertility preservation (FP), several barriers still prevent the implementation of equitable FP practice. Currently, oncofertility competencies do not exist. The aim of this study was to develop an oncofertility competency framework that defines the key components of oncofertility care, develops a model for prioritizing service development, and defines the roles that health care professionals (HCPs) play.

Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort.

Introduction: Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the dystrophin gene. This is the first study on the mutational spectrum in a cohort of DMD children from India, with an emphasis to compare the mutations in familial and sporadic forms.

Results: Multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) identified 525 and 70 cases of DMD, respectively, while 11 cases showed absent dystrophin staining with no mutations detected.

Effective Inexpensive Management of Necrotizing Otitis Externa Is Possible in Resource-Poor Settings.

Introduction: Necrotizing otitis externa resolves best with antimicrobial treatment. How to care for these patients and monitor their resolution remains a problem. Our protocol in Bangalore can manage these patients inexpensively and well.

Evaluation of the effect of dentin surface treatment by air abrasion and Er:YAG laser on the retention of metal crowns luted with glass ionomer cement in teeth with reduced crown height: An study.

Aim And Objectives: The purpose of this study was to investigate the effect of dentin surface treatment with aluminum oxide air abrasion and Er:YAG laser on tensile bond strength of metal crowns. Metal crowns were luted with conventional glass ionomer cement (GIC) in the teeth with reduced crown height, where preparation geometry did not provide optimal retention form.

Materials And Methods: Forty-eight human premolars were prepared to receive metal crowns and were randomly divided into four groups for tensile bond strength testing.