A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).

Background: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare skeletal dysplasia following autosomal recessive mode of inheritance and characterized by abnormal growth plates, short and abnormal bones in the extremities and spine.

Objective: Present study was designed to report the molecular basis of AMDM in enrolled consanguineous family from Pakistan.

Methods: A consanguineous family from Vehari District in Pakistan having multiple siblings suffering from AMDM was enrolled in present study.

Short-term exposure to titanium, aluminum and niobium (Ti-6Al-4Nb) alloy powder can disturb the serum low-density lipoprotein concentrations and antioxidant profile in vital organs but not the behavior of male albino mice.

A group of seven-week-old albino mice of both genders were orally administered with a suspension of 25 mg Ti-6Al-4Nb/ml of saline/kg body weight and evaluated in comparison with a control group of animals treated with saline. Evaluation of both the groups was conducted through behavioral tests (Rota rod, open field, novel object and light dark box test), blood biochemical tests [complete blood count and selected serum parameters ([cholesterol, high-density lipoproteins, low-density lipoproteins, creatinine and triglycerides)] and on the basis of measured concentration of antioxidant metabolites (superoxide dismutase, catalase and lipid peroxidation) in vital organs (brain, heart, liver, kidney and lungs). Based upon the results of these tests, it has been found that the applied dose of Ti-6Al-4Nb alloy powder has not effect on physical and neurological outcome of these animals.

Short term exposure to titanium, aluminum and vanadium (Ti 6Al 4V) alloy powder drastically affects behavior and antioxidant metabolites in vital organs of male albino mice.

Titanium, Aluminum and Vanadium (Ti 6Al 4V) alloy are frequently used as surgical implant but regarding their compatibility in living systems is limited. Ti 6Al 4V was prepared from high purity constituents and Ti 6Al 4V alloy powder (25 mg/ml solvent/Kg body weight) was gavaged to albino mice for 8 days. A saline treated control group was maintained in parallel.