Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.

Background: Acquired early-onset bilateral cataracts can result from systemic etiologies or genetic disorders.

Methods: In this observational study, we analyzed individuals 18 months to 35 years of age with acquired bilateral cataracts via a next-generation sequencing panel of 66 genes to identify disease-causing genetic variants.

Results: Of 347 patients enrolled, 313 (90.

Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives.

In this article, patients with cerebrotendinous xanthomatosis (CTX) and caregivers detail their experience with lifelong symptoms, diagnosis, treatment and efficacy, and ongoing disease management. One patient and four caregivers describe the challenges associated with pursuing a correct diagnosis for years before testing confirmed a CTX diagnosis. They also detail their ongoing struggles and desire for greater access to physicians with CTX knowledge and to reliable online resources to continue their education about the disease and strategies for symptom management.

Treatment of cerebrotendinous xanthomatosis in pregnancy: Patient and physician perspectives.

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive disorder of bile acid synthesis that presents with varied and progressive symptomology. Early treatment with chenodeoxycholic acid (CDCA) improves symptoms and slows degeneration. Patients with CTX are commonly recommended to discontinue CDCA treatment during pregnancy because of theoretical risks to the fetus, but patient and clinician concerns about the risks of stopping treatment cause uncertainty.

Blood Stream Infection Caused by Carbapenem-resistant Chryseobacterium indologenes Harboring blaNDM-1 Gene Isolated from a Tertiary Care Hospital in Tripura: An Emerging Threat.

Objectives: Chryseobacterium indologenes has recently been identified as an inherently drug-resistant organism, responsible for a wide spectrum of infections, mainly device-associated infections in hospital settings. The presence of carbapenem resistance due to blaNDM-1 metallo-β-lactamase (MBL) gene further complicates the matter, leading to widespread dissemination of carbapenem resistance. This study aims to find out the presence of blaNDM-1 gene among C.

Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis.

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder caused by pathologic variants in CYP27A1, a gene involved in bile acid synthesis. Impaired function in this gene leads to accumulation of plasma cholestanol (PC) in various tissues, often in early childhood, resulting in such clinical signs as infantile diarrhea, early-onset bilateral cataracts, and neurological deterioration. The current study aimed to identify cases of CTX in a population of patients with a greater CTX prevalence than the general population, to facilitate early diagnosis.

Metallothionein isoform 3 expression inhibits cell growth and increases drug resistance of PC-3 prostate cancer cells.

Background: The third isoform of metallothionein (MT-3) is overexpressed in prostate cancers and PIN lesions. The expression of MT-3 is highly variable but appears to correlate to Gleason score. The goal of the present study was to determine the effect of MT-3 overexpression on the growth of the PC-3 prostate cancer cell line.

Transient induction of metallothionein isoform 3 (MT-3), c-fos, c-jun and c-myc in human proximal tubule cells exposed to cadmium.

Cadmium (Cd(+2)) has been shown to transiently increase the expression of mRNA for the third isoform of the metallothionein (MT-3) gene family in cultured human proximal tubule (HPT) cells. The goal of the present study was to further define the expression of MT-3 in mortal (HPT) and immortal (HK-2) cultures of HPT cells when exposed to lethal and sub-lethal concentrations of Cd(+2) under both acute and chronic time periods of exposure. Expression of MT-3 mRNA and protein was determined in cultured HPT cells and HK-2 cells using reverse-transcription-polymerase chain reaction (RT-PCR) and immuno-blotting, and expression of c-fos, c-jun and c-myc mRNA by RT-PCR.