Human epidermal growth receptor polymorphisms (HER1-rs11543848 and HER2-rs1136201) exhibited significant association with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan.

Background and Aims: Breast cancer is the most common type of cancer in women. The genetic polymorphism in HER (HER1-rs11543848 and HER2-rs1136201) were found to be associated with breast cancer risk in different ethnicities worldwide with inconsistent results. The aim of this research study was to evaluate the association of HER1-rs11543848 and HER2-rs1136201 polymorphisms as a risk of breast cancer in Pashtun population of Khyber Pakhtunkhwa, Pakistan. Methods: A total of 314 women including 164 breast cancer patients and 150 age and gender-matched healthy controls were enrolled from June 2021 to May 2022. All the samples were subjected to DNA extraction followed by Tetra-ARMS-PCR for genotyping and gel electrophoresis. Results: Our results indicated that HER1-rs11543848 risk allele A (p = 0.0001) and heterozygous genotype GA (p = 0.0001) displayed highly significant association with breast cancer, while the homozygous mutant genotype AA indicated association but nonsignificant results (odds ratio [OR] = 2.637, 95% confidence interval [CI] = 1.2258-5.6756, p = 0.0833). Similarly, the HER2-rs1136201 risk allele G (p = 0.0023), the heterozygous genotype AG (p = 0.0530) and homozygous mutant genotype GG showed significant association (OR = 2.5946, 95% CI = 0.9876-6.8165, p = 0.0530) with breast cancer risk. Both the SNPs presented a higher but nonsignificant risk of breast cancer in postmenopausal women (OR = 2.242, p = 0.08 and OR = 2.009, p = 0.06). However, both the SNPs showed significant association (p < 0.005) with family history, metastasis, stage, luminal B, and TNBC. Conclusion: In conclusion, HER1-rs11543848 and HER2-rs1136201 polymorphisms are significantly associated with the higher risk of breast cancer in Pashtun population of Khyber Pakhtunkhwa, Pakistan. These findings advocate for further exploration with larger datasets, offering promising avenues for personalized approaches in breast cancer research and potentially enhancing clinical practices for better risk assessment and targeted management strategies.

Leptin and Hyperlipidemia in Primigrivida Preeclamptic Women and Normotensive Women.

OBJECTIVE: To measure and compare serum levels of leptin and lipid profile parameters in primigravida women with PE and normotensive primigravida. STUDY DESIGN: Analytical cross-sectional study. PLACE AND DURATION OF STUDY: Department of Physiology and Cell Biology, University of Health Sciences, Lahore, from 2018 to 2020. METHODOLOGY: Preeclamptic (PE, group A) and normal primigravida (PG, group B) with gestational age 30-36 weeks were recruited from tertiary care hospitals. After written and informed consent, blood samples were taken. Serum was separated and stored at -80oC until processed. CBC and lipid profile of each patient was also done using automated lab machines. Serum levels of leptin were calculated by ELISA. The data was entered and analysed in SPSS version 20. RESULTS: The mean serum levels of leptin (ng/ml) in PE (group A) were significantly raised compared to normotensive PG (group B) at 33.44±12.91 and 4±6.20 respectively (p.

Risk association of RANKL and OPG gene polymorphism with breast cancer to bone metastasis in Pashtun population of Khyber Pakhtunkhwa, Pakistan.

INTRODUCTION: The receptor activator NF-κB ligand (RANKL) and Osteoprotegrin (OPG) single nucleotide polymorphisms (SNPs) have been associated with the risk of breast cancer to bone metastasis. This study was designed to investigate the association of RANKL and OPG gene polymorphisms with breast to bone metastasis in Pashtun population of Khyber Pakhtunkhwa, Pakistan. MATERIALS AND METHODS: A total of 215 participants were enrolled containing 106 breast cancer patients, 58 breast to bone metastasis and 51 age and gender matched healthy controls. RANKL (rs9533156) and OPG (rs2073618, rs3102735) polymorphisms were genotyped in genomic DNA, using Tetra-ARMS PCR protocol. The results were analyzed among the three groups and P-value less then 0.05 were considered statistically significant. RESULTS: Our results displayed significant association of OPG (rs3102735) risk allele and corresponding genotypes in breast cancer vs healthy controls, bone metastasis vs healthy controls and breast cancer vs breast to bone metastasis as a disease risk. However, there was no association observed for OPG (rs2073618) risk allele and corresponding genotypes with the diseases risk. Similarly, RANKL (rs9533156) risk allele and corresponding genotypes in breast cancer vs healthy controls, bone metastasis vs healthy controls and breast cancer vs breast to bone metastasis exhibited significant association except for the risk allele carrying genotypes in breast to bone metastasis. CONCLUSION: OPG (rs3102735) and RANKL (rs9533156) exhibited significant association with breast to bone metastasis while OPG (rs2073618) didn't show significant association with breast to bone metastasis in Pashtun population of Pakistan. However, this study unlocks more questions to investigate the exact scenario of genetic predisposition of breast to bone metastasis.

Raised Glycated Hemoglobin (HbA1c) Level as a Risk Factor for Myocardial Infarction in Diabetic Patients: A Hospital-Based, Cross-Sectional Study in Peshawar.

Background Diabetes is a rapidly rising chronic illness in developing countries. The main objective of this research is to compare the frequency of myocardial infarction (MI) in controlled and uncontrolled diabetics in Pakistan, especially in the underprivileged district of Peshawar, and to determine raised blood glucose as a risk factor for MI. Methodology This cross-sectional study involving 237 diabetic patients aged 30-80 years was conducted in three major tertiary care hospitals in Peshawar, Pakistan. The inclusion criteria were diabetic patients with glycated hemoglobin (HbA1C) levels of less than 7% considered to be "controlled diabetics" and above 7% considered to be "uncontrolled diabetics." Data were collected using structured questionnaires, past medical records, and patient history and were analyzed using SPSS software (IBM Corp., Armonk, NY, USA). The study was concluded in March 2022. Results The highest number of MIs occurred in diabetics with HbA1c levels of 8-9% (47.9% of all MIs). There was a significant association between increasing HbA1c levels and the incidence of MI (p = 0.002). The adjusted prevalence odds ratio for MI in uncontrolled diabetics was 6.105 (95% confidence interval = 2.42-15.43), that is, six times increased incidence of MI in patients with HbA1c of more than 7%. Furthermore, with a 1% increase in HbA1c, there was a 10% increase in the proportion of MIs. Conclusions From this study, it is clear that HbA1c levels of 8-9% were most significantly associated with the risk of MI in uncontrolled diabetics, and with rising levels of HbA1c, the risk of MI increased significantly. Thus, this study highlights the importance of HbA1c control in diabetic patients to prevent a heart attack.

Induction of Combination Therapy for the Management of Hepatitis C: An Observational Study.

Background and objective Hepatitis C infection is prevalent in Pakistan. The purpose of this study was to observe the therapeutic effects of conventional interferon in combination with ribavirin among treatment-naive hepatitis C patients. Methods This descriptive cross-sectional study of hepatitis C combination therapy was conducted at our institute after approval. All the patients received treatment with conventional interferon (5-MU three times weekly) and ribavirin (1000mg/day) for four weeks. A follow-up for the rapid virological response (RVR) was done in the fourth week of treatment.  Results The mean age of the patients was 37.43. There was a gradual decrease in RVR with increasing age after four weeks of treatment.  Conclusion The combination therapy showed good RVR in the fourth week among all hepatitis C patients.

The development of malnutrition is not dependent on its traditional contributing factors in patients on maintenance hemodialysis in developing countries.

Malnutrition in dialysis population is associated with significant morbidity and mortality. Nutritional assessment is a neglected area in hemodialysis (HD) patients in developing countries. The aim of the study was to find out whether any traditional parameters have statistically significant correlation with malnutrition. All 58 end-stage renal disease patients on maintenance HD in our dialysis unit were enrolled in this cross-sectional study. The nutritional status was assessed by a predesigned questionnaire including subjective global assessment (SGA). Anthropometric measurements, peripheral neuropathy, and pertinent laboratory parameters were checked. The duration of HD ranged between three months to 10 years (mean 4 ± 1.5 years). Of these 49 patients, 26 (53%) were males with a median age 45 (25-76) years. Fifteen patients (31%) were well nourished and 34 (69%) were undernourished including nine (19%) patients classified as severely malnourished according to SGA. Malnutrition appeared more prevalent in males, however, statistically not significant (P = 0.063). On univariate and multivariate analysis, no significance was found across well-nourished and malnourished patients in terms of age, body mass index, calorie count, duration and frequency of dialysis, dry weight, interdialytic weight loss or gain in the past six months, body fat percentage, serum albumin, blood pressure, intradialytic hypotension, urea reduction ration, Kt/Vurea, peripheral neuropathy, and comorbidities. Psychosocial factors were identified in 24 (49%) patients with 19 (79%) having some degrees of malnutrition, but the finding did not reach the statistical significance. Surprisingly, the traditional factors studied in previous trials have not shown any significant association to malnutrition in our study based on the statistical analysis.

Potential harmful elements in coal dust and human health risk assessment near the mining areas in Cherat, Pakistan.

This study was aimed to investigate the potential harmful element (PHE) concentrations in coal dust and evaluate the human risk assessment and health effects near coal mining areas. For this purpose, dust samples were collected near various coal mines in Cherat, Pakistan, and analyzed for the PHE concentrations. Determined PHE concentrations were evaluated for the health risk assessment. Results revealed that ingestion was the major pathway as compared to others for PHE exposure. Individual chronic daily intake (CDI) of PHEs was higher than their respective permissible exposure limits set for oral exposure routes by the Agency for Toxic Substances and Disease Registry (ATSDR). Chronic risk or health index (HI) values were observed < 1 for all PHEs and in the order of Pb > Cr > Cd > Ni > Cu > Co > Zn. Higher HI values of Pb, Cr, and Cd could attribute to various chronic health problems as observed during the medical examination survey of this study. Cancer risk (CR) values for this study were observed within the US Environmental Protection Agency (EPA) limits. However, if current practices continued, the PHEs will cross these limits in a near future. Therefore, this study strongly recommends the provision of safety measures, rules, and regulation to avoid health hazards in the future.

4-(4-Nitro-phen-oxy)butanol.

The crystal structure of the title compound, C(10)H(13)NO(4), features inter-molecular O-H⋯O(nitro) hydrogen bonding, which links mol-ecules into supra-molecular chains running parallel to the bc diagonal. There is also π-π stacking between 4-nitro-phenyl groups, the inter-planar distance between the nitro-benzene rings being 3.472 (2) Å.

Opsoclonus myoclonus.

Opsoclonus myoclonus is a rare autoimmune condition characterized by cerebellar degeneration. It occurs most often as a paraneoplastic syndrome when a cancer remote to the brain induces cerebellar dysfunction that is unrelated to metastases. Half of all cases occur in children with a neuroblastoma. Most adults with opsoclonus myoclonus have neoplastic, infectious, metabolic, or idiopathic etiologies. Signs of cerebellar dysfunction noted at presentation include opsoclonus, myoclonus and ataxia, hence the name "dancing eyes, dancing feet syndrome." Opsoclonus is characterized by rapid, involuntary eye movements that are dysrhythmic and uncoordinated.Neuronal damage is induced by antibodies usually related to the primary pathology. Treatment targets the etiology and also employs steroids, plasmapheresis, immunosuppressive agents, or other anti-inflammatory therapies. Children with opsoclonus myoclonus resulting from a neuroblastoma often retain neurological sequelae. Adult cases of opsoclonus myoclonus with idiopathic or infectious etiologies have a more favorable prognosis than those with neoplastic origins.