Neurocognition and affective temperament in first-degree relatives of patients with bipolar disorder in south India: a cross-sectional study.

Background: Endophenotypes aid in studying the complex genetic basis of bipolar disorder. We aimed to compare first-degree relatives of patients with bipolar I disorder in a hospital in India with unrelated healthy controls in terms of neurocognition and affective temperament METHODS. This cross-sectional study was conducted between August and November 2012 at a tertiary hospital in India.

Subcutaneous Eyelid Dirofilariasis Masquerading as an Eyelid Tumor: A Rare Case Report and Literature Review.

Subcutaneous eyelid dirofilariasis is a rare parasitic infection that can be mistaken for eyelid tumors due to its unusual presentation. In this report, we examine two cases in which patients initially presented with eyelid swellings that were initially diagnosed and treated as preseptal cellulitis in another medical facility. These patients were subsequently referred to our facility to rule out the possibility of a lid tumor.

Parry-Romberg Syndrome: A Report of a Rare Case and a Comprehensive Review.

Parry-Romberg syndrome (PRS), also recognized as progressive hemifacial atrophy (PHA), is a rare medical condition affecting the dermis, subcutaneous tissue, and occasionally underlying anatomical structures such as muscles and bones. While the etiology of this condition remains incompletely elucidated, it has been hypothesized that trauma, autoimmunity, infection, and autonomic dysregulation may constitute potential contributory factors. Typically, the onset of symptoms occurs within the initial two decades of life, though instances of late-onset PRS manifesting in the sixth and seventh decades of life have also been documented.

A Toolkit for Detecting Fallacious Calls for Papers from Potential Predatory Journals.

Purpose: Flattering emails are crucial in tempting authors to submit papers to predatory journals. Although there is ample literature regarding the questionable practices of predatory journals, the nature and detection of spam emails need more attention. Current research provides insight into fallacious calls for papers from potential predatory journals and develops a toolkit in this regard.

Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.

Background: Adequate glucose supply is essential for brain function, therefore hypoglycemic states may lead to seizures. Since blood glucose supply for brain is buffered by liver glycogen, an impairment of liver glycogen synthesis by mutations in the liver glycogen synthase gene (GYS2) might result in a substantial neurological involvement. Here, we describe the phenotypes of affected siblings of two families harboring biallelic mutations in GYS2.

Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan.

Chronic liver disease, with viral or non-viral etiology, is endemic in many countries and is a growing burden in Asia. Among the Asian countries, Pakistan has the highest prevalence of chronic liver disease. Despite this, the genetic susceptibility to chronic liver disease in this country has not been investigated.

Differential remodeling of extracellular matrices by breast cancer initiating cells.

Cancer initiating cells (CICs) have been the focus of recent anti-cancer therapies, exhibiting strong invasion capability via potentially enhanced ability to remodel extracellular matrices (ECM). We have identified CICs in a human breast cancer cell line, MX-1, and developed a xenograft model in SCID mice. We investigated the CICs' matrix-remodeling effects using Second Harmonic Generation (SHG) microscopy to identify potential phenotypic signatures of the CIC-rich tumors.

Pulse-modulated second harmonic imaging microscope quantitatively demonstrates marked increase of collagen in tumor after chemotherapy.

Pulse-modulated second harmonic imaging microscopes (PM-SHIMs) exhibit improved signal-to-noise ratio (SNR) over conventional SHIMs on sensitive imaging and quantification of weak collagen signals inside tissues. We quantify the spatial distribution of sparse collagen inside a xenograft model of human acute myeloid leukemia (AML) tumor specimens treated with a new drug against receptor tyrosine kinase (ABT-869), and observe a significant increase in collagen area percentage, collagen fiber length, fiber width, and fiber number after chemotherapy. This finding reveals new insights into tumor responses to chemotherapy and suggests caution in developing new drugs and therapeutic regimens against cancers.

Toward surface quantification of liver fibrosis progression.

Monitoring liver fibrosis progression by liver biopsy is important for certain treatment decisions, but repeated biopsy is invasive. We envision redefinition or elimination of liver biopsy with surface scanning of the liver with minimally invasive optical methods. This would be possible only if the information contained on or near liver surfaces accurately reflects the liver fibrosis progression in the liver interior.

Fibro-C-Index: comprehensive, morphology-based quantification of liver fibrosis using second harmonic generation and two-photon microscopy.

We develop a standardized, fully automated, quantification system for liver fibrosis assessment using second harmonic generation microscopy and a morphology-based quantification algorithm. Liver fibrosis is associated with an abnormal increase in collagen as a result of chronic liver diseases. Histopathological scoring is the most commonly used method for liver fibrosis assessment, where a liver biopsy is stained and scored by experienced pathologists.

The immunohistochemical identification of human oral mucosal melanocytes.

With the aim of identifying melanocytes, 60 samples of wax-embedded palatal and buccal mucosa front 30 autopsies were analysed for expression of S100, HMB-45 and NKI/C3 in combination with a Masson Fontana stain. The counts of positive cells were compared with those derived from 3,4 dihydroxyphenylalanine (DOPA) staining in fresh samples of gingiva. Polyclonal antisera to S100 stained dendritic cells throughout the epithelium, but monoclonal antibodies to S100, HMB-45 and NKI/C3 labelled cells that were restricted to the basal layer, often in clusters with some sections negative.