2024年 · 第07卷第01期

Thalassemia is a prevalent condition characterized by decreased production or absence of hemoglobin globin chains. There are 2 types of thalassemia, alpha thalassemia and beta thalassemia (β-thalassemia), classified according to defects in the alpha or beta protein chain. β-Thalassemia results from a diverse range of mutations in the β subunit of the hemoglobin gene (HBB). This results in severe reductions in erythrocyte and hemoglobin levels. Worldwide, more than 40,000 babies are born with β-thalassemia annually. There are approximately 80 million β-thalassemia carriers. In Pakistan, the annual birth rate of β-thalassemia major carriers is approximately 6,000, and 50,000 to 100,000 patients suffer from this common inherited disorder. IVSI-1, IVSI-5 (G>C), Fr 8/9 (+G), Fr 41/42 (-TTCT), and del 619 are the 5 most common mutations that account for 90% of β-thalassemia cases in Pakistan. This study aimed to investigate the prevalence of β-thalassemia mutations (IVSI-5, Fr 41/42, and Fr 8/9) in the Swat district and to analyze the blood morphology of different mutant thalassemia blood samples.

A cross-sectional study was performed at the Forensic Research Lab University of Swat from December 2021 to March 2022. The study included a total of 150 blood samples. Comparative analysis of blood morphology through microscopy was carried out on samples from patients with different β-thalassemia mutations and normal individuals. Genomic DNA extraction was performed according to the Sambrook protocol, and DNA was quantified via agarose gel electrophoresis. Thalassemia mutations were detected by amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR). The frequencies of different β-thalassemia mutations were analyzed.

Thalassemia blood cells were more hypochromic and microcytic than normal blood cells, although no differences were detected in the morphology of IVSI-5, Fr 8/9, or CD41/42 mutant blood cells. The IVSI-5, Fr 8/9, and CD41/42 mutations were analyzed through agarose gel electrophoresis of the ARMS-PCR data. The IVSI-5 mutation was the most prevalent mutation, identified in 52.2% (78/150) of the patients. The prevalence of Fr 8/9 and CD41/42 mutations was 22.6% (34/150) and 18.6% (28/150), respectively. A total of 5.33% (8/150) of patients had double mutations, and only 1 patient (0.666%) had all 3 mutations.

This study provides a reliable reference for the detection of different mutations in β-thalassemia and will help to formulate different strategies for improving the awareness of the general public. For a more thorough analysis of common β-thalassemia mutations, the investigation should be extended to more ethnic regions of Pakistan.

Inflammatory diseases are among the leading causes of health issues that considerably influence health care costs. Despite the notable advancements in medical treatment that have been made in recent years, natural products with biological activity still play essential roles in a variety of anti-inflammatory conditions. The study and identification of novel treatments for the adverse effects of available synthetic anti-inflammatory agents warrant further attention.

This study focused on the emerging therapeutic potential of terpenoid products as anti-inflammatory agents.

The literature reveals that secondary metabolites obtained from medicinal plants, viz. terpenes and terpenoids and their nanoformulations, are effective for the treatment of inflammation in humans. Established terpenes are a broad class of secondary metabolites that are rich in monoterpenes, diterpenes, triterpenes, tetraterpenes, ceramides, and sesquiterpenes and have various therapeutic applications, such as antitumor, antibacterial, antimicrobial, analgesic and anti-inflammatory activities. Numerous studies have shown that terpenes can decrease inflammation-associated symptoms by reducing the release of proinflammatory cytokines, including nuclear transcription factor-kappa B, interleukins, tumor necrosis factor-alpha, and other inflammatory mediators.

This review describes the latest knowledge of the different terpenoid-derived natural and synthetic compounds that have been isolated from plant sources in recent years and their anti-inflammatory potential and therapeutic mechanism of action. Furthermore, this study focused on terpenoid-based nanoformulations with enhanced bioavailability and improved therapeutic efficacy as anti-inflammatory agents.

There were 2.3 million new cases of breast cancer registered in 2020, establishing it as the world’s leading cancer. The regular exposure of breast cells to circulating ovarian sex hormones may contribute to cancer growth at all stages. A literature review was performed by downloading research articles from PubMed Central, with keywords such as breast cancer, hormone exposure in breast cancer, estrogen/progesterone exposure in breast cancer, and breast cancer risk factors. Since breast cancer is a hormone-related disease, several factors that influence hormonal conditions or are indicators of alterations in hormonal conditions have been linked with the risk for breast cancer. Likewise, an elevated risk for breast cancer has been related to reproductive history and exogenous estrogen exposure because they may amplify lifetime estrogen exposure. All these factors address the total cumulative exposure to circulating ovarian sex hormones that a female is vulnerable to in her lifetime. A healthy lifestyle, a more extended breastfeeding period, and regular physical activity may help lower one’s risk. This review summarizes the factors that increase the risk of estrogen/progesterone (hormone receptor) receptor-positive breast cancer due to overall cumulative estrogen exposure, with an understanding of estrogen biosynthesis mechanisms and estrogen receptor signaling.

Renal calculi, commonly known as kidney stones, is a prevalent urological condition that affects a substantial portion of the population worldwide. The formation of kidney stones is a complex process influenced by various factors, including diet, fluid intake, genetics, and metabolic abnormalities. The pathogenesis of renal calculi involves a complex interplay of multiple factors, including supersaturation of urine with stone-forming constituents, urinary supersaturation, crystallization, and aggregation.

This review aims to provide an overview of the present understanding of renal calculi, their pathophysiology, diagnostic approaches, and available treatment modalities.

This review discusses the different types of kidney stones, such as calcium oxalate, calcium phosphate, uric acid, and struvite stones, and explores their formation mechanisms and associated risk factors. The management of renal calculi relies on stone characteristics, patient symptoms, stone size, and location. Furthermore, counseling and education regarding lifestyle modifications and risk factor management are essential for long-term management.

Accurate diagnosis and appropriate management based on stone characteristics and patient symptoms are essential for successful outcomes. Preventive strategies to reduce stone recurrence are vital for long-term management and patient well-being. However, further research is needed to refine diagnostic techniques, improve treatment options, and enhance the understanding of the underlying pathophysiology of renal calculi.