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Cystic fibrosis (CF) is a life-threatening genetic disorder caused by mutations in the CFTR gene. This leads to a defective protein that impairs chloride transport, resulting in thick mucus buildup and chronic inflammation in the airways. The review discusses current and future therapeutic approaches for CFTR dysfunction and airway dysbiosis in the era of personalized medicine. Personalized medicine has revolutionized CF treatment with the advent of CFTR modulator therapies that target specific genetic mutations. These therapies have significantly improved patient outcomes, slowing disease progression, and enhancing quality of life. It also highlights the growing recognition of the airway microbiome’s role in CF pathogenesis and discusses strategies to modulate the microbiome to further improve patient outcomes. This review discusses various therapeutic approaches for cystic fibrosis (CFTR) mutations, including adenovirus gene treatments, nonviral vectors, CRISPR/cas9 methods, RNA replacement, antisense-oligonucleotide-mediated DNA-based therapies, and cell-based therapies. It also introduces airway dysbiosis with CF and how microbes influence the lungs. The review highlights the importance of understanding the cellular and molecular causes of CF and the development of personalized medicine to improve quality of life and health outcomes.

Introduction: Covid-19 is an unprecedented challenge in our times leaving a trail of destruction and mayhem affecting almost all of us during the last 2 years. Various data sources are available around the globe to measure its impact using various yardsticks. Material and Methods: By carefully looking at data available at the website maintained by Government of India, we can draw some useful conclusions. Results: There is a dip in the number of online registrations at our hospital coinciding with second wave and resultant lockdown. Conclusion: Tracing digital footprints of an event as huge as the Covid pandemic may help us for future planning when we learn its lessons well.

Introduction: Government runs teaching hospitals to impart a high-quality medical education to budding medicos and paramedical students in training. The experiences these trainees at various tenure positions get then and there shape their worldview for rest of the life and have an indelible impression. The Covid-19 pandemic disrupted all the routines at the hospitals around the world—including ours—and we make an attempt to measure it in one dimension in this study. Materials and Methods: We obtained attendance data of patients at out patient department and in patient department of our hospital. During the pandemic for a certain duration offline (physical) registrations were closed and they were attended only by online ones. Hence that data (actually a part of it) got captured electronically and we analyzed it to get an idea of the traversed course of the scourge. Results: When the pandemic surged during the spring and summer of 2021, our hospital was turned into a Covid facility. Hence average routine attendance of patients got reduced to a significant extent, elective surgeries/interventions and procedures were postponed and this data is reflected in an electronic system, perhaps making a long-lasting effect on the budding trainees. This fact needs to be realized so as to take appropriate action. Conclusion: We need to realize that the effects of the viral communicable disease may be enduring, not only for the infected patients and their families but also for those who learn on those patients. Therefore, the transmissible diseases disabled not only our society, economy, and health care services when they ascended but pedagogy too. Online learning came to rescue but only up to a certain extent and with several caveats and limitations.

Background: Down syndrome (DS) is the commonest chromosomal anomalies at birth. DS is portrayed by the event of extra complete/deficient duplicate of chromosome number 21 (trisomy 21). Around the world, this disordered influencing roughly 1 out of 1000 infants. Pro-inflammatory and anti-inflammatory cytokines engaged with a few physiological procedures involving the guideline of inflammatory reactions. In DS kids, the creation of few important inflammatory and anti-inflammatory cytokines is altered. Different investigations shows that the cytokines are dysregulated in patients with DS. In this study, we led a meta-analysis to evaluate the connections of pro-inflammatory and anti-inflammatory cytokine changes in youngsters with DS patients. Methodology: We searched PubMed, Google and Web of Science for studies in exploring the association of pro-inflammatory and anti-inflammatory serum level with DS patients. Total 10 studies were included in the meta-analysis. The random effects were used to analyze the pooled data. All statistical tests were two-sided. Results: High circulating level of serum MCP-1 was significantly associated with DS [Cohen's d = 143.91 95% confidence interval (CI) =110.38-177.43]. However, the other circulating cytokines IL-2 and IL-17 level were lower whereas IL-13 level was higher but not significantly different in DS as contrasted to healthy controls. The heterogeneity level was higher in IL-2, IL-13 and IL-17 cytokines. Conclusion: This meta-analysis shows that the higher circulating level of MCP-1 was associated with DS.

Objectives: India shares largest burden of congenital birth defects (CBDs) in the world. There is paucity of data on the CBDs in our region of the country. Methods: This was a hospital based observational study to find incidence, risk factors and outcome of CBDs among live neonates. Results: Of 7,075 babies, 92 had 124 CBDs, making the incidence 1.3%. The system predominantly involved was musculoskeletal system (52.2%) followed by central nervous system (28.3%), genitourinary system (26.1%). Among the single CBDs, congenital talipes equino varus (27.4%) was the commonest followed by spina bifida (11.2%) and cleft palate (6.4%). The significant factors associated with CBD were no antenatal visits (p = 0.041), TORCH and/or VDRL positivity (p = 0.023), gestational diabetes mellitus (GDM) (p = 0.007), hypertension (p = 0.090), consanguinity (p = 0.03), no intake of folic acid (p = 0.015). Of these, factors found significant on logistic regression were GDM (OR 3.44; p = 0.018), maternal hypertension (OR 4.88; p = 0.011), consanguinity (OR 13.55; p = 0.028) and no intake of iron/folic acid (OR 5.53; p = 0.001). Of the 92 neonates with CBD, 44 (47.8%) were discharged, 28 (30.5%) expired, 20 (21.7%) left against medical advice. Conclusion: Incidence of CBD was comparable to previous Indian studies. Consanguinity, no intake of folic acid, maternal hypertension and GDM were associated risk factors. About half neonates with CBD expired or left against medical advice. This shows dismal outcome of neonates with CBD in this region.

Background and Aims: Hemoglobinopathies and thalassemias are the commonest single gene disorders in India. In Terai region of India, Hemoglobinopathies and thalassemias are the most common in the Tharu community. Therefore, in this study, we aim to evaluate the Hb variant analysis of hemoglobinopathies and thalassemias in a Tharu population in Lakhimpur Kheri Districts of Uttar Pradesh, India. Materials and Methods: Total 493 individuals were recruited in this study. The demographic details and blood samples were collected from different location at Kheri district during mega health camp. Hb variant analysis was performed by high performance liquid chromatography (HPLC) system beta thalassemia short program in BIO-RAD VARIANT. Results: Out of 493, 108 (21.9%) individual suffers with abnormal haemoglobinopathies. In which β-thalassemia trait is the commonest haemoglobinopathy (12.98%), followed by HbE trait (7.50%), and compound heterozygous HbS/β-Thalassemia trait (1.42%) in overall population. The HbF was significantly greater in HbS heterozygous (1.45 ± 1.41), whereas mean HbA2 was significantly greater in β-Thalassemia trait (5.17 ± 1.36). Conclusion: The high incidence of hemoglobinopathies and thalassemias were observed in Tharu community in Lakhimpur Kheri districts of Uttar Pradesh, Indian.

Background: Himachal Pradesh is a hill state in North India in the Western Himalayas. β-thalassemia is a genetic disorder of hemoglobin inherited in an autosomal recessive manner that results in defective globin production leading to the early destruction of red blood cells. β-thalassemia has long been neglected in Himachal Pradesh due to popular belief that it runs along “Lahore-Gujarat-Punjab” belt in India. Therefore, there is no β-thalassemia testing facility currently in the state. Methods: To estimate the prevalence of β-thalassemia carriers, we calculated the sample size based on probability proportional to size self-weighing design. In each of 20 selected colleges, 111 students having an age of 18–25 were tested for high-performance liquid chromatography (HPLC) and complete blood count. Some were further tested for the mutations. We computed sensitivity, specificity, positive predictive value (PPV) and negative predictive value, and receiver operating characteristic curve for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) red cell parameters. Results: Of the 2220 students, 57 were found to be β-thalassemia carrier by HPLC. The overall prevalence rate was 2.6% which translates to probable 180,000 β-thalassemia carriers in Himachal Pradesh. Six districts bordering highly endemic Punjab had a higher prevalence. Hemoglobin D-Punjab, Heterozygous-Iran Trait, and raised fetal hemoglobin were found. Thalassemia major and sickle cell disease were not found. Anemic status or MCV/MCH parameters were not found to be reliable predictors of thalassemia carrier status among the healthy populations of HP. The predominant mutation found was IVS 1–5 G > C. Conclusion: Popular ongoing strategy for screening with MCV and MCH has low-PPV and can miss upto 37% of true thalassemia carriers. HPLC is better strategy for screening carriers and reduces further spread of thalassemia.