Background: Intellectual Disability “ID” is a genetic disorder, which lead to arrested or incomplete development of the brain. It is the limitation of cognitive skills impairment and decline ability of a person in learning process. ID is the most common health problem in worldwide. These patients have decline intellectual functions and at least limitation in their two or more adoptive skills such as reading, writing abilities, social interactions, Behavioral habits, self-care, communication ability etc. The time period for the diagnosis of ID is the onset of disease before the eighteen years of age. Spastic Paraplegia and short stature is a general terminology using for a group of an uncommon inherited diseases that cause stiffness and weakness in the lower limbs muscles. Gradually its symptoms get worse with the passing of time. It's also called as familial spastic paraparesis or Strümpell-Lorrain syndrome. SP is classified clinically as “complicated" (syndromic) or "uncomplicated" (nonsyndromic) Spastic Paraplegia. Methods: This study was started in March 2014 to Aug 2015. The criteria for the selection of families were consanguineous families with two or more than two ID patients. The patients were examined, interviewed one by one in friendly atmosphere. Then the blood samples were taken by aseptic method. Blood samples were processed in laboratory. DNA extraction and PCR was done. After that Exome sequencing was used to find the pathogenic variants. The data was analyzed by CATCH. Sanger Sequencing was applied to see the segregation. Results: In ID-family1 the variant of AP4B1 was segregated with the disease phenotype. These ID patients have short stature and Spastic Paraplegia. Mutation in AP4B1 is known to cause intellectual disability. In ID-family2 the variants of WDR62, EML2 and KCNK6 were co-segregated with disease phenotype. But only mutations in WDR62 are known to cause intellectual disability. ID family2 also identified as short stature. In ID-family3 Exome sequencing data reveal no putative variants. Conclusion: The present study was conducted in three consanguineous families for the determination of the responsible genes for intellectual disability. Exome sequencing revealed putative mutations in AP4B1 and WDR62 in two out of three families. In third family we could not locate any putative mutation. Keywords: Intellectual disability ID, Autosomal recessive disorders, Autosomal recessive nonsyndromic ID, Behavioral Abnormality, Segregation, Exome sequencing, Spastic Paraplegia, Short stature.
The section of mammalian metabolism known as ketogenesis is responsible for creating ketone bodies. In this mechanism, the liver responds to decreased glucose availability by producing the tiny, water-soluble molecules acetoacetate, D-3-hydroxybutyrate, and propanone. While ketone bodies are always present in small amounts in healthy people, dietary changes and some pathological circumstances can raise the concentrations of these substances in living organisms. The systemic effects of ketogenic diet (KD), despite its recent widespread usage, are poorly known and can range from potentially dangerous results to medically advantageous outcomes depending on the situation. Here, we discuss the metabolism and molecular signaling of ketone bodies before relating the biology of ketone bodies to debates about their potential or actual health benefits. According to the findings of this research, a KD can be used as a natural treatment for weight loss in fat individuals. This is a one-of-a-kind research that will follow the effects of a KD for 24 weeks. The patients' lipid, total cholesterol, LDL cholesterol, and glucose levels all decreased significantly, while their HDL cholesterol levels increased significantly. The adverse effects of medications widely used for weight loss in such individuals were not noted in patients on the KD.
Nandrolone Decanoate (ND) as most frequently used as performance enhancing drug, the present study was conducted to investigate the histological changes produced by ND alone and in combination with exercise on soleus muscle. Forty female rats were divided equally by randomized control trial (RCT)i.e BI (control), BII (ND5mg/kg intramuscular twice weekly) BIII (Exercise/swimming) BIV (ND & Exercise) for 12 weeks at the animal house of PGMI, Lahore during the year 2010. Data was recorded on various microscopic parameters viz; internalization of nuclei, splitting in muscle fibers, rounded or angular muscle fibers and diameter of fibers for control and experimental groups.Results regarding internalization of nuclei revealed significant (P≤0.006, 0.013) differences among the groups receiving ND in comparison to control and exercise and highly significant (P≤0.001)differences were observed in animals subjected to ND and exercise in comparison to control. Splitting of muscle fiber was observed in group BIII and BIV (P≤0.001) in comparison with control. Significant increase in diameter of muscle fiber was observed in group BIII (P≤0.005) and BIV (P≤0.001) in comparison to control.Similarly, minimum degenerative changes were observed showing angular or rounded fibers in group BIII andBIV in comparison to control. The instant results suggest that significant hypertrophy was observed in animals subjected to ND and exercise. Keywords: Soleus, splitting, diameter, internalization of nuclei, female
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