Generalized arterial calcification of infancy (GACI) is a life-threatening disorder in young infants. Cardiovascular symptoms are usually apparent within the first month of life. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Most of the patients die by 6 months of age because of heart failure. Recently, homozygous or compound heterozygous mutations for the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene were reported as causative for the disorder. ENPP1 regulates extracellular inorganic pyrophosphate (PPi), a major inhibitor of extracellular matrix calcification. A newborn was diagnosed with GACI. The infant died at the age of 7 weeks of cardiac failure and the parents were referred to Molecular Biology and Cytogenetic lab for further workup. Cytogenetics analysis was performed on the parents, which showed normal karyotypes and mutational analysis for the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene was also performed. The mutational analysis showed that both father and mother of the deceased infant were heterozygous carriers of the mutation c.749C>T (p.P250L) in exon 7 of ENPP1 and it was likely, that the deceased child carried the same mutation homozygous on both alleles and died of GACI resulting from this ENPP1 mutation. The couple was counseled and monitored for the second pregnancy. Amniocentesis was performed at 15 weeks of gestation for mutational analysis of the same gene in the second pregnancy. The analysis was negative for the parental mutations. One month after the birth of a healthy infant, peripheral blood was collected from the baby and sent for reconfirmation. The results again were negative for the mutation and the baby was on 6 months follow up and no major symptoms were seen. The parents of the child benefited enormously by learning about the disease much in advance and also its risk of recurrence. The main aim of this study is to emphasize on two aspects: (i) the importance of modern molecular techniques in diagnosis such a syndrome and (2) the difficulties faced by the physician to provide appropriate diagnosis and the adequate genetic counseling to the family without molecular facilities.

Cancer is second in all the leading causes of morbidity and mortality worldwide, with more or less 13% in total deaths worldwide in 2018. Total deaths due to cancer in India was 7, 84,821 in 2018. Estimated number of people living with the disease is around 2.25 million and every year new cancer patients registered are 11, 57294 lakh. The number of recent cases is predicted to rise by concerning seventieth over consequent a try of decades. Globally, nearly one in six deaths is because of cancer. The present study was used to assess the effectiveness of progressive muscle relaxation technique on physical symptoms among patients receiving chemotherapy. The data from a sample of 20 cancer patients receiving chemotherapy admitted in shri guru ramdass hospital of Amritsar, Punjab. 10 patients in experimental group and 10 patients in control group were selected using purposive sampling technique. The results of the study showed highly significant difference in pre-interventional and post-interventional physical symptoms of experimental and control group. The Z value (Wilcoxon signed rank test) between pre-intervention and post-intervention in experimental group related to nausea was 2.897 which were found statistically significant at p< 0.05. The Z value between pre-intervention and post-intervention in control group related to nausea was 1.000 which was found statistically nonsignificant in control group at p>0.05. Hence, it was concluded that in control group physical symptoms were not relieved. The Z value between pre-intervention and post-intervention in experimental group in experimental group related to vomiting was 2.879 which were found highly significant at p< 0.05. Hence, it was concluded that progressive muscle relaxation technique has significant effect in relieving physical symptoms. The Z value between pre-intervention and post-intervention in control group related to vomiting was 1.000 which was found non-significant at p< 0.05. Hence, it was concluded that in control group physical symptoms were not relieved. The Z value between pre-intervention and post-intervention in experimental group related to pain was 2.899 which was found highly significant at p<0.05. The Z value between preintervention and post-intervention in control group related to pain was 0 which was found non-significant at p<0.05. Hence, it was concluded that progressive muscle relaxation technique has significant effect in relieving physical symptoms.

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