International Health Review

Prevalence of Down Syndrome and its Relationship with Maternal Age in Tehsil Kabal, District Swat, Pakistan

Fayaz Khan — 2025-12-29

Down Syndrome (DS) is the most common chromosomal disorder, with a well-established link to advanced maternal age. However, robust epidemiological data on DS is lacking in many regions of Pakistan. This study aimed to determine the prevalence of DS and its association with maternal age in Tehsil Kabal, Pakistan. A community-based cross-sectional survey was conducted from December 2021 to May 2022 across all 14 wards in Tehsil Kabal. Data was collected via door-to-door visits using a structured questionnaire. Verbal informed consent was obtained from all participants. The informed consent was acquired orally since the research was based on a low-risk survey and most of the participants belonged to groups with low signature practices. The project was approved by the faculty and the department that supervised the research. Suspected cases were identified based on standard phenotypic features. Out of an estimated population of 390,000 (excluding children under 4), 114 individuals with DS were identified, yielding a prevalence of 0.03% (approximately 1 in 3,400 live births or 3 per 10,000). A strong association with maternal age was found: 56% of affected children were born to mothers aged 31-40, 29% to mothers aged 21-30, and 15% to mothers aged 41-50. A significant male predominance was observed (78% male vs. 22% female). Nearly, half (47%) of the identified individuals were aged 11-20 years. The prevalence of DS in Tehsil Kabal was observed to be lower than global averages but confirmed maternal age as a significant risk factor. The high male-to-female ratio and low survival into adulthood highlighted potential sociocultural and healthcare factors affecting the DS population in this region, warranting further study.

Unravelling the Impact of Hypoxia, Reactive Oxygen Species, and Necrosis in Skeletal Muscles

Farwa Munir — 2025-11-15

Skeletal muscle mass is strongly linked to stressors like ischemia and reactive oxygen species (ROS), both of which are regulated by oxygen availability and redox homeostasis. Intermittent ischemia and reperfusion cause a burst of reactive oxygen species, destruction of mitochondrial integrity, and inflammatory/necrotic pathways The objective of this review is to summarise existing data on the mechanistic interaction between hypoxia, ROS generation, and necrosis in skeletal muscle, as well as the role of these mechanisms in contributing to ischemia-reperfusion injury, metabolic disruption and dysfunction of skeletal muscle in the long term. The keywords examined in the literature search were skeletal muscle, hypoxia, reactive oxygen species, ischemia-reperfusion, mitochondria, and necrosis using PubMed, Scopus, and Web of Science. Articles published in English between 1990 and 2023 were peer reviewed and included, while conference abstracts, non-scientific reports, and duplicate records were excluded. The evidence suggests that hypoxia changes the use of substrates in the mitochondrion, stabilises the hypoxia-inducible factors and preconditions the muscle fibres to oxidative damage. The overproduction of ROS during reperfusion further increases the activity of inflammatory signalling, like NF-kB, calcium overload, and apoptotic and necrotic cell death. These teamed disruptions are what cause structural disintegration, dysfunctional contractional performance and retarded recuperation. An improved insight into these interrelated processes identifies prospects in therapeutic approaches such as antioxidants, enzymatic inhibition, gene-based treatment, cytokine therapy, and cell-derived exosomes- to alleviate ROS-related damage and promote muscle recovery.