Phenotypic heterogeneity in family members of patients with retinitis pigmentosa.

Purpose: To describe the phenotypic variations in family members of patients with retinitis pigmentosa (RP) with different modes of inheritance and to assess the ocular abnormalities in RP families.

Methods: A descriptive analysis of three types of inheritance of RP was carried out, where 64 family members were examined at a tertiary eye care center, South India. They underwent comprehensive eye examination, fundus photography, fundus autofluorescence (FAF), full-field electroretinogram (FFERG), and spectral domain optical coherence tomography (SD-OCT).

Comparative Analysis of Electric Field Strength, Magnetic Field Strength and Power Density around the Cell Phone Towers of Varying Characteristics with a Proposed Classification Facilitating Research on Human Population.

The continuous exposure of electromagnetic field (EMF) radiation from cell phone towers may possibly have an influence on public health. Each cell phone tower is unique in terms of number of antennas and its associated attributes; thus, the radiation exposure varies from one tower to another. Hence, a standardized method for quantifying the exposure is beneficial while studying the effects of radiation on the human population residing around the cell phone towers.

Retinoschisis and Norrie disease: a missing link.

Objective: Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no locus heterogeneity has been reported. However, there are reports showing overlapping features of Norrie disease and retinoschisis in a NDP knock-out mouse model and also the involvement of both the genes in retinoschisis patients.

Can artificial intelligence overtake human intelligence on the bumpy road towards glioma therapy?

Gliomas are one of the most devastating primary brain tumors which impose significant management challenges to the clinicians. The aggressive behaviour of gliomas is mainly attributed to their rapid proliferation, unravelled genomics and the blood-brain barrier which protects the tumor cells from chemotherapeutic regimens. Suspects of brain tumors are usually assessed by magnetic resonance imaging and computed tomography.

Will CRISPR-Cas9 Have Cards to Play Against Cancer? An Update on its Applications.

Genome editing employs targeted nucleases as powerful tools to precisely alter the genome of target cells and regulate functional genes. Various strategies have been risen so far as the molecular scissors-mediated genome editing that includes zinc finger nuclease, transcription activator-like effector nucleases, and clustered regularly interspaced short palindromic repeats-CRISPR-related protein 9. These tools allow researchers to understand the basics of manipulating the genome, create animal models to study human diseases, understand host-pathogen interactions and design disease targets.

Drug information center as referral service in a South Indian tertiary care hospital.

Objective: The objective of this study is to assess the various aspects of drug information services (DISs) provided in the DI center of a tertiary care hospital.

Materials And Methods: DI queries received from various departments from April 2013 to May 2017 were included in the study. Various aspects such as year- and department-wise distribution, reason for sending the queries, mode of receipt and reply, time taken for reply, number of visit for bedside examination of patients, and number of references given per query were analyzed.

Biolubricant potential of exopolysaccharides from the cyanobacterium Cyanothece epiphytica.

Exopolysaccaharides (EPS) are carbohydrate polymers secreted by microbial cells, as a protective layer termed sheath or capsule. Their composition is variable. Optimisation of nutrient factors and the effect of some simple stresses on the ability of Cyanothece epiphytica to produce EPS were tested.

PIWI-like protein, HIWI2 is aberrantly expressed in retinoblastoma cells and affects cell-cycle potentially through OTX2.

Retinoblastoma (RB), a childhood cancer, is caused by biallelic mutation of the gene, but its development is not clearly understood. Furthermore, the presence of a cancer stem cell subpopulation in RB might impact its treatment. PIWI protein, known for its role in stem cell self-renewal, is aberrantly expressed in cancers.

Clinical and genetic analysis of Indian patients with NDP-related retinopathies.

Purpose: NDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies.

Proteomic profiling of human intraschisis cavity fluid.

Background: X-linked retinoschisis (XLRS) is a vitreoretinal degenerative disorder causing vision deterioration, due to structural defects in retina. The hallmark of this disease includes radial streaks arising from the fovea and splitting of inner retinal layers (schisis). Although these retinal changes are attributed to mutations in the retinoschisin gene, schisis is also observed in patients who do not carry mutations.

Expression pattern of NMDA receptors reveals antiepileptic potential of apigenin 8-C-glucoside and chlorogenic acid in pilocarpine induced epileptic mice.

The present study was aimed to evaluate the effect of apigenin 8-C-glucoside (Vitexin) and chlorogenic acid on epileptic mice induced by pilocarpine and explored its possible mechanisms. Intraperitonial administration of pilocarpine (85mg/kg) induced seizure in mice was assessed by behavior observations, which is significantly (p>0.05) reduced by apigenin 8-C-glucoside (AP8CG) (10mg/kg) and chlorogenic acid (CA) (5mg/kg), similar to diazepam.

Synthesis and characterization of biocompatibility of tenorite nanoparticles and potential property against biofilm formation.

Aim is to assess the anti-biofilm property of tenorite nanoparticles and to study their suitability as a possible coating material for medical implants. Tenorite (CuO) nanoparticles were synthesized by the optimized thermal decomposition method and characterized using TEM, XRD, FTIR and UV-Vis analysis. Their influence on biofilm formation of microbes was studied by growing multi drug resistant bacterial strains in the presence or absence of these nanoparticles at various concentrations.

Immediate implants in anterior maxillary arch.

Aim: The aim of the study was to evaluate the osseo-integration and soft tissue status of the endosseous implants placed in immediate extraction socket.

Methodology: Seven patients (4 males and 3 females) aged 20-30 years were selected for the study. Nine implants were placed in seven patients in the maxillary arch.

Biodiversity and molecular evolution of microalgae on different epiphytes and substrates.

An exploration of the microalgal biodiversity from different epiphytes and substrates of pool water in temple at Tiruchirappalli District was studied. Totally ten epiphytic forms were selected for this investigation. In that, totally 44 species of 30 genera belonging to 3 families of the Chlorophyceae, Cyanophyceae (heterocystous and non-heterocystous) and Bacillariophyceae were identified and recorded.

Oral myiasis in an adult associated with filariasis and Hansen's disease.

Oral myiasis is a common parasitic infestation of live human and animals caused by species of dipteran fly larvae known as maggots which may be secondary to medical disease. This case involves a 51-year-old female, poorly debilitated with advanced periodontal disease infected by the dipteral larvae in the anterior maxillary region which belonged to the family Calliphoridae and Chrysomya bezziana species. This lady was neglected from her family and presented oral myiasis with the previous history of filariasis and Hansen's disease.

Cleidocranial dysplasia with hearing loss.

Cleidocranial dysplasia is an inherited skeletal anomaly that affects primarily the skull, clavicle, and dentition, which can occur spontaneously, but most are inherited in autosomal dominant mode. The skull findings are brachycephaly, delayed or failed closure of the fontanelles, presence of open skull sutures and multiple wormian bones with pronounced frontal bossing. The syndrome is notable for aplasia or hypoplasia of the clavicles.

Trichorhinophalangeal syndrome type 1: A case report with literature review.

Trichorhinophalangeal syndrome is a very rare genetic disorder, where damage and mutation to the number 8 chromosome affects sufferers in numerous ways. The syndrome has three types, all characterized by abnormally short stature, sparse hair, short deformed fingers with cone-shaped epiphyses visible in radiographs. Type I is the most common.

Ludwig's Angina - An emergency: A case report with literature review.

Ludwig's angina is a form of severe diffuse cellulitis that presents an acute onset and spreads rapidly, bilaterally affecting the submandibular, sublingual and submental spaces resulting in a state of emergency. Early diagnosis and immediate treatment planning could be a life-saving procedure. Here we report a case of wide spread odontogenic infection extending to the neck with elevation of the floor of the mouth obstructing the airway which resulted in breathlessness and stridor for which the patient was directed to maintain his airway by elective tracheostomy and subsequent drainage of the potentially involved spaces.

Double-layered closure of oroantral fistula using buccal fat pad and buccal advancement flap.

Some of the traditional methods that are being employed in the repair of oroantral communication can be broadly divided into local and distant flaps. Recently, because of various advantages, buccal fat pad is increasingly being employed in the repair of oroantral fistula and other oral defects worldwide. However, there are some problems that can be encountered while harvesting BFP which has to be taken care of.

Low flow vascular malformation of the buccal mucosa treated conservatively by sclerotherapy (3% sodium tetradecyl sulfate).

Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas in the head and neck region. It is of paramount importance that a modern classification system is established to differentiate vascular lesions from vascular malformations. Vascular malformations are usually congenital and venous anomalies usually expand because of hormonal changes such as puberty, pregnancy, or secondary to trauma.