Identification of a Novel Variant in Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia.

A 21-year-old patient presented with a previous medical history of pallor, mild icterus, increased fatigue, low hemoglobin, and abnormal hemoglobin variant analysis with more than 70 transfusions. He was referred for genetic analysis to identify the pathogenic variations in the β-globin gene. Sanger's sequencing of the proband and his family revealed the presence of a novel frame shift variant in a compound heterozygous state with hemoglobin E (HbE) variant.

Metabolic syndrome and its related biochemical derangements in breast cancer patients who received neoadjuvant chemotherapy: A study from a tertiary care oncology centre from Puducherry, South India.

Background And Aims: Comparison of the existence of metabolic syndrome, its components and their related biochemical complications between newly diagnosed and treated breast cancer patients.

Methods: Forty newly diagnosed untreated breast cancer patients and forty breast cancer patients who had received 7 cycles of neoadjuvant chemotherapy were recruited as group 1 and group 2 respectively. Height, weight, blood pressure, hormonal status, and tumor size were noted.

Identification and Development of a High-Risk District Model in the Prevention of β-Thalassemia in Telangana State, India.

The burden of β-thalassemia (β-thal) is largely underestimated in India with a carrier frequency of 3.0-4.0% in general, whereas highly stratified frequencies of up to 17.

Optimal Levothyroxine Replacement Adequately Improves Symptoms of Hypothyroidism; Residual Symptoms Need Further Evaluation for Other than Hypothyroidism Causation.

Objectives: Many patients with hypothyroidism complain of persistent residual symptoms, despite optimal treatment, although the similar prevalence is seen in patients with documented absence of thyroid disorder in primary health-care setup. We aimed to investigate symptomatic relief in new cases of primary hypothyroidism and compare with controls with other chronic conditions.

Methods: This prospective case-control follow-up study enrolled patients from July 2014 to May 2015 in an endocrine outpatient clinic of a tertiary hospital.

Gadolinium neutron capture in glioblastoma multiforme cells.

Purpose: A proof of principle for cell killing by Gadolinium (Gd) neutron capture in Magnevist preloaded Glioblastoma multiforme (GBM) cells is provided.

Materials And Methods: U87cells were pre-loaded with 5 mg/ml Magnevist (Gd containing compound) and irradiated using an enhanced neutron beam developed at NIU Institute for Neutron Therapy at Fermilab. These experiments were possible because of an enhanced fast neutron therapy assembly designed to use the fast neutron beam at Fermilab to deliver a neutron beam containing a greater fraction of thermal neutrons and because of the development of improved calculations for dose for the enhanced neutron beam.