Objective:A detrimental intrauterine environment generated by a chromium-restricted diet has been implicated in the development of metabolic diseases in adulthood, but the etiology remains unknown. Methodology:A sample of 24 BALB/c female adult mice were separated into two groups, where mice in group 1 were fed ad libitum with normal animal chow, whereas mice in group 2 received a chromium-restricted diet (0.125 mg Cr/kg diet) for 12 weeks. After determining their chromium levels, animals were allowed to mate and pregnancy were counted based on vaginal plug appearance. The same chromium-restricted diet regime was continued throughout pregnancy. After birth, pups were kept on the mother's diet until the age of 15 months, and their behavior and movements were monitored. At five and 15 months postnatal, the blood glucose, serum insulin, cholesterol, and high-density lipoprotein cholesterol (HDLc) levels were measured. After reaching the age of 15 months, the offspring were sacrificed and the pancreas, kidney, adipose tissue, and uterine tissue were removed to assess the cytostructure. Results:The animals in group 2 exhibited aberrant behavior, and mobility patterns. Compared with the controls in group 1, the offspring in group 2 had elevated blood glucose, serum insulin, cholesterol, and HDLc levels. Hematoxylin and eosin staining indicated alterations in the pancreas, kidneys, and uterus parenchyma, which were validated by anti-islet-1, kidney-specific (Ksp) cadherin, and anti-MLH antibody staining, thereby demonstrating the impacts of chromium restriction on key organs to ultimately lead to metabolic alterations and diseases later in life. Conclusion:In utero chromium restriction induced diabetes and atherosclerosis in the endocrine pancreas, kidney, and uterus, with less parenchymal tissue.

Objective: To detect the possible role of Manganese deficiency in the development of adult diseases when exposed in utero.Methodology: Total 24 adult female BALB/c female mice were divided into two equal size groups: group 01 was provid-ed normal feeding, whereas group 02 received a Manganese-restricted diet. Animals were permitted to mate once de-sired levels were achieved, and pregnancy was assessed by examining vaginal area. The similar dietary regimen was maintained during the entire gestation. Pups were maintained on the same diet until 15 months of age. The behavior and locomotion of animals was kept under observation. At 05- and 15-months different blood parameters were exam-ined. At 15 months age, the pancreas, kidneys and uterine tissue were excised for microscopic analysis.Results: The group 2 animal group exhibited anomalous behavior and movement characteristics. In comparison to the control group, offspring in group G2 exhibited increased levels of blood glucose, serum insulin and cholesterol. H & E staining demonstrated modifications in the parenchyma of the pancreas and kidneys and were confirmed by immuno-histochemistry. The uterus appeared normal in both groups as indicated by anti-MLH antibody staining.Conclusion: In utero Manganese deficiency may eventually leads changes of vital organs and play a role in the develop-ment of diseases later in the life.Key words: Manganese restriction, mice offspring, adult diseases, in-utero.

Background: Autism Spectrum Disorder (ASD) is typically linked to dysfunction of the brainstem, interfering with sensory treatment and autonomic management. The study aimed at examining the structural changes in the brainstem of a rat model induced by propionic acid (PPA) and focused on neuroanatomy changes within the medulla and pons. Methods: This in vivo study of 6 months (June 2023- December 2023) was carried out in the department of Anatomy at LUMHS Jamshoro. Twenty Wistar male rats were also divided into two groups. control (Group A n = 6) and PPA provoke an autism spectrum disorder (ASD) model (Group B n = 14). The groups were assigned using a random sampling technique. The animals were induced with ASD-like behaviors using oral administration of 250 mg/kg PPA for 5 consecutive days. The open field and social interaction tests were used to conduct behavioral assessments. brainstems were dissected after euthanasia for histopathological analysis, where morphometric evaluation of thickness and densities of the brainstem, and vascular changes were observed. Statistical analysis was run on SPSS version 26, p <0.05 as a significance level(T-test). Results: PPA-treated rats showed significantly reduced brainstem thickness in the pons (1.10 ± 0.06 mm vs. 1.35 ± 0.08 mm, p < 0.001) and medulla (0.98 ± 0.05 mm vs. 1.22 ± 0.07 mm, p < 0.001), with severe neuronal loss (83%) and vascular congestion (91%). Behavioral scores declined, including reduced locomotor activity (392 ± 70 cm vs. 610 ± 85 cm, p < 0.01) and social interaction (3.2 ± 0.9 vs. 7.1 ± 1.0, p < 0.001). Conclusion: This study has demonstrated that PPA-induced ASD triggers structural changes in the brainstem, namely in the medulla and pons, giving hints on the neuroanatomical changes involved in ASD and possible therapeutic options for the medulla and pons.

The objectives of this study were to determine the association of methylenetetrahydrofolate reductase (MTHFR) gene variant C677T with non-syndromic cleft lip/palate (NSCLP) in Pakistani population and compare the maternal serum folic acid levels in NSCLP-affected and healthy group. A comparative cross sectional study was conducted between 2017 and 2019 at Liaquat University of Medical and Health Sciences, Jamshoro. Sixty mother-infant dyads were recruited (n = 120), including NSCLP-affected and healthy infants along with their mothers. The MTHFR C677T variant exhibited significant association with NSCLP in dominant and over-dominant models. No differences in maternal serum folic acid levels were observed between both the groups; however, the folic acid intake during pre-conception period was associated with decreased risk for NSCLP. Our study suggested that MTHFR 677 CT genotype was related with decreased risk for NSCLP in Sindhi, Pakistani, population. Pre-conception folic acid may decrease the risk for oral clefts.

Background: Several studies reveals the correlation of preeclampsia (PE) with low vitamin D (VD) level due to disturbed trophoblast invasion and failure of spiral artery remodeling. The metabolism of VD is regularized by it signaling molecules expressed by the placenta during pregnancy. Therefore, this study was designed to assess and compare the levels of VD and it signaling molecules in placentae from normotensive and preeclamptic pregnancies and their correlation with spiral artery remodeling. Methods: This study was carried out at Department of Anatomy at Liaquat University of Medical & Health Sciences, Jamshoro after ethical approval on placentae of 122 parturients; 61 from normal and 61 from preeclampsia, data was collected on predesigned proforma and was analyzed on SPSS 23. Results: The mean and standard deviation of maternal age, gestational age, and parity was 32.73 +/- 5.9 years, 37.3 +/- 3.6 weeks and 3 +/- 1 respectively. The wall thickness of SA and VD when compared in two groups found statically significant. Vitamin D signaling molecules were determined by immunostaining compared in two groups by applying Mann Whitney U test and Pearson's correlation which reveals significant differences in preeclamptic versus controls. Conclusions: Despite extensive research indicating a link between low levels of VD and its signaling molecules in the context of inadequate spiral artery remodeling, there is still a need for further investigation to fully understand the mechanisms underlying this association in preeclampsia.

Objective: This study was aimed to observe the effects of high fat diet on lipid levels and histomorphology of liver and detecting the preventive effects of ginger and atorvastatin on high fat diet induced hyperlipidemia in albino mice. Also the comparison between the two protective agents was observed.Methodology: This experimental study was conducted at Department of Anatomy and Pathology, LUMHS Jamshoro and Sindh Agriculture University Tando Jam for six months. This research comprised of 60 adult male mice, divided into four groups (each having 15 animals). Group A, normal control was given standard chow while Groups B, C and D were given high fat diet (cheese) along with chow for eight weeks followed by administration of ginger (15mg/30gm) to Group C and atorvastatin (0.3mg/30gms) to Group D for another eight weeks. Animals of Group B, hyperlipidemic control were left untreated. Weight of animals was measured weekly. Samples for serological and histological changes were taken before and after the induction of high fat diet and at the end of experiment.Results: The research revealed deranged lipid profile with increased total cholesterol, triglycerides, low density lipoprotein cholesterol and Alanine transaminases, decreased levels of high-density lipoprotein cholesterol and distorted hepatic architecture after high fat diet which were significantly improved by the administration of ginger in Group C animals and to a lesser extent by atorvastatin in Group D.Conclusion: Ginger only or concurrently with drug therapy proved to be effective hypolipidemic, antioxidant, and hepatoprotective agent, reducing the vulnerability to chronic co-morbidities. Keywords: Atorvastatin; Ginger rhizome; Hepatic ballooning; Lipid profile; Liver; Steatosis.

Background: Organophosphates (OPs) are one of the pesticides causing toxicity to humans and animals. OPs toxicity involve many organs such as liver, kidney, nervous system and immune system. Liver fibrosis is a wound healing response in which there is increased production and deposition of extracellular matrix (ECM), due to prolonged injury to liver by viral hepatitis, alcohol consumption, metabolic diseases and toxins (pesticides). Angiotensin receptor blockers (ARBs) are potential therapeutic agents for liver fibrosis. Objectives: To determine the effects of ARBs on Chlorpyrifos(CPF) induced liver fibrosis. Methods: 40 adult male albino wistar rats were used in the study. Rats were grouped as control group (A1), positive control group (A2) and experimental groups (B, C and D). Group A2 was treated with carbon tetrachloride (CCL4) to induce liver fibrosis, with 2 ml/kg of 50% solution of CCL4 by oral gavage two times per week for eight weeks, group B was treated with 1ml/bw/day CPF intraperitoneally for eight weeks. Group C was treated with 1ml/bw/day CPF intraperitoneally for eight weeks and then ARBs orally (30mg/kg/day) for 8 weeks. Group D was simultaneously treated with CPF and ARBs for 8 weeks with same doses as for group C. At the end of experiment blood was collected by cardiac puncture for liver function test and rats were sacrificed to collect liver samples. Pathological changes in liver were examined using H&E and Masson’s trichrome staining. Real time PCR was used to detect alpha smooth muscle actin (α-SMA), transforming growth factor beta 1(TGF- β1) and Collagen-I(coll-I) mRNA expression. Results: CPF caused liver injury evidenced by raised liver enzymes and bilirubin with histological changes and increased expression of genes. ARBs decreases liver enzymes, CPF induced histological changes and decreases the expression of α-SMA, TGF- β1 and Coll-I. Conclusion: The present study suggests that ARBs prevent fibrogenesis and may serve as a promising therapeutic agent to reduce CPF induced liver fibrosis.

In the current era, the advent of digital media has significantly altered how individuals establish connections and seek sources of inspiration. Inside this context, a noteworthy avenue arises known as "Golden Inspirations," which harnesses the power of motivational videos to skillfully construct a framework of optimism and personal growth in the lives of older adults. The objective of this study was to examine the relationship between life satisfaction and psychological wellness, as well as the influence of motivational movies on these variables. This study was done on 82 senior citizens of the Al Azhar Garden Society. A survey was conducted through the life satisfaction scale and psychological well-being scale before and after the motivational video. The result for this study was a mean average of 21.40 before videos and 24.15 after videos for the life satisfaction scale. Similarly, the mean average was 0.84 before and 1.57 after the videos for psychological well-being. The determinants of life satisfaction among older individuals encompass various social, physical, mental, and financial dimensions. These factors are likely to interact with one another, particularly about experiences of loneliness, level of self-care ability, overall health status, feelings of distress, and inadequate financial resources relative to one's needs. To preserve the life pleasure of an individual, it is imperative to consider these many aspects.

Background: Several studies reveal changes in blood parameters in patients with cancer. Complete blood count is a good predictor for many cancer diagnoses and prognoses. They are also helpful in assessing drug efficacy and toxicity. Cancers may be treated with bioactive and antioxidant compounds derived from plants. The effects of Physalis peruviana on the complete blood count of dimethylbenz(a)anthracene induced are still not well identified. Methods: This study was conducted at Liaquat University of Medical and Health Sciences, Jamshoro, for six months on 60 female albino rats divided in 05 groups. The effects of Physalis peruviana fruits and tamoxifen on complete blood count in dimethylbenz(a)anthracene induced breast cancer were assessed. Blood samples were collected at weeks 1, 5, 7, and 10 for hematological changes before, during, and after treatment. Result: Rats of group E (Tumor-induced albino rats treated with the extracts of Physalis Peruviana and tamoxifen) gave the best results compared to other groups. In this group, increases in weight along with an improvement in hematological parameters were observed when compared with others. Conclusion: The extract from Physalis Peruviana helps in the reversal of pancytopenia with anemia and thrombocytopenia caused by tumor-inducing drugs.

Background: Glaucoma is a neurodegenerative ophthalmic disorder and is considered among the leading causes of irreversible blindness. Primary open-angle glaucoma (POAG) is the most common type of glaucoma that affects after 30 years of life, progressing slowly, and manifests as decreased visual acuity leading to blindness if not treated. POAG is genetically heterogeneous, inherited most commonly in autosomal dominant mode. Several genes have been reported for POAG with myocilin (Myoc) being most common. The present study has been conducted to screen 25 POAG families with 2 or more affected members for their association with Myoc and CYP1B1 (the most common gene in primary congenital glaucoma). Methods: After approval from Institutional Ethical Review Committee (ERC), 25 POAG families were enrolled from the southern province (Sindh) of Pakistan. Written informed consent was obtained from all participating individuals and diagnosis was confirmed by consultant ophthalmologists using various instruments and means. Venous blood was obtained from affected individuals and their normal family members for DNA extraction and subsequent analysis. Results: All samples were initially screened for the Myoc gene followed by CYP1B1. Screening for Myoc revealed one previously reported variant c.144G>T in POAG-06 whereas screening for CYP1B1 in all 25 families showed a novel variant c.649G>A in POAG-02. The pathogenicity of the novel variant was confirmed using various bioinformatics tools. Conclusion: This is the first report of any POAG family found associated with a novel variant in CYP1B1 from the southern province of Pakistan whereas one family found associated with a reported variant in Myoc. The remaining 23 POAG families did not found to be associated with either Myoc or CYP1B1 indicating genetic heterogeneity of the population in this part of the world. (c) 2022 The Authors. Published by Elsevier B.V. on behalf of King Saud University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Objective: To observe the effects of honey and vitamin C individually and synergistically on wound healing in mice.Methodology: This experimental study was performed on 60 adult male albino mice aged 6-8 weeks and weight 28-35 grams. Mice were randomly allocated into 4 groups (A, B, C, D) each containing 15 animals. All animals were wounded (1cm circular) at day 0 after depilation of skin over thoracic region. Group A (Control); was left untreated for self-healing. Group B was treated with 0.08ml topical honey twice a day. Group C was treated 0.075ml/30gm oral vitamin C and Group D was treated 0.08ml topical honey twice daily with 0.075ml/30gm oral vitamin C. For histopathological analysis, wounded tissue along with adjacent normal skin was removed at day 0, 7, 14 and 21 of experiment. Data were analyzed on SPSS 22. Results: Mean wound size were 6.88 +/- 0.74, 2.86 +/- 1.70, 3.40 +/- 1.93 and 1.00 +/- 1.11. Wounds of control group was slow in healing in comparison with group B and C, which were almost equivalent, group D animals showed faster healing with fine scar tissue formation.Conclusion: Honey with vitamin C supplementation proved to be effective in wound repair.

Bisphenol A (BPA), an endocrine disruptor, may be involved in the etiology of autism spectrum disorders (ASD); however, the mechanism of neuronal and astrocytic damage remains ambiguous. A possible role of altered expression of p21 in autistic‐like behavior in rat offspring was examined with prenatal and postnatal BPA exposure.

BACKGROUND:Bisphenol A (BPA) is a well-recognized endocrine disruptor and is globally used in the manufacture of many plastic items. Multiple studies suggest links between prenatal BPA exposure and alterations in neurodevelopment and behaviors in children, even at lower levels. This study was conducted to reveal the role of astrocyte morphology and Gamma aminobutyric acid (GABA) signaling in BPA induced cognitive defects in the offspring of Wistar albino rats when exposed during the prenatal and postnatal periods.METHODS:Dams of Wistar albino rats were exposed to a dose of 5 mg/kg body weight of BPA throughout the pregnancy and lactation period until the third postnatal day (PND). After delivery of pups, cognitive tests were carried out on the 21st, 24th, and 28th PNDs. Blood samples were collected for measurement of serum GABA levels. On the same day as the blood collections, pups were sacrificed and their right frontal cortices were dissected out. Immunohistochemical analysis for glial fibrillar acidic protein + astrocytes was conducted.RESULTS:Pre and postnatal BPA exposure led to anxiety like behavior in pups. This exposure also resulted in reduced serum GABA concentrations. Immunohistochemical analysis revealed reduced astrocyte numbers as well as decreased numbers of dendritic spines in the BPA exposed pups.CONCLUSION:BPA exposure during critical periods of development leads to cognitive impairments that correlate with the defects in the GABA signaling pathways and deteriorated morphology of the astrocytes in the offspring of the Wistar rats.

Cisplatin (Cis) has been proved to be successful in treating cancers but it has several toxicities. Central nervous system toxicity is considered as one of its most common toxic effects. Vitamin E and Green tea are antioxidant with proven results on prevention of life threatening diseases. Objectives: To assess the preventive role of two antioxidants vitamin E and green tea against cisplatin induced neurobehavioral abnormalities in albino mice. Study Design: Experimental Study. Setting: Department of Anatomy, Liaquat University of Medical and Health Sciences (LUMHS) Jamshoro, in collaboration with Sindh Agriculture University TandoJam. Material & Methods: A total of 60 mice were grouped in to Group A, (control), Group B (Cisplatin), Group C (Cisplatin plus vitamin E) and Group D (cisplatin plus green tea). The weight, gross features and behavior of the animals was monitored before and in between drug administration. Behavioral studies were performed in quiet atmosphere, and included Pain stimulation test, heat Stimulation test, cold Stimulation test, Hearing, Object Recognition test. Results: A significant decrease in weight and body hair of the Cis treated animals was noticed as compared to control animals. Paw edema, mental orientation, object recognition, noise stimulation, heat and cold stimulation, time to move away from the stimulus were also significantly different to control. All features were improved with the addition of vitamin E and green tea. Conclusion: Toxic effects of cisplatin, on morphology and behavior of adult albino mice partially abrogated with antioxidant supplementation.

Objectives: To find out the negative laparoscopy rate for suspected ectopic pregnancy. Study Design: Retrospective cohort study. Setting: Electronic medical record databases in North Cumbria University Hospital, Carlisle, United Kingdom. Period: August 2014 to August 2018. Material and Methods: The data of total 150 laparoscopies performed for ectopic pregnancy management was collected for gestational age at presentation, symptoms, serial beta human chorionic gonadotrophic hormone (HCG) levels, ultrasound findings, time interval for diagnosis, time to surgery and histology. Results: One hundred and fifty patients (52 under 5 weeks and 98 over 5 weeks’ gestation) were incorporated into this study. The primary presenting symptoms were pain and vaginal bleeding. Suboptimal rise in serial beta HCG (performed 48 hours apart) was seen in 69 patients (46%) while other 81 patients (54%) had confirmed ectopic on USS and were offered surgical management after the scan. One hundred forty for women (96%) went for surgical management and one patient had conservative management as she was asymptomatic with low HCG(less than 1000IU) at the first visit and rapid drop in serial BHG results. Fifty three women (35%) had surgery on the same day when they had ectopic pregnancies seen on USS, 63 (42%) went to theatre for surgery between 0-6 days, while 34 patients (23%) had surgery between 7-14 days of USS. All women were operated through laparoscopic route and tubal ectopic pregnancies were confirmed at laparoscopy. There was no negative laparoscopy in our study period. Conclusion: Judicious and timely surgical intervention made it possible to treat every case through laparoscopic route with zero negative laparoscopy rate.

Objective(s): Bisphenol A (BPA) that is a monomer of plastic products may possibly interfere with epigenetics and be involved in onset and progression of several diseases. This study was aimed to detect the epigenetic effects of in utero BPA exposure in mice offspring.Materials and Methods: All experiments were performed according to the national guidelines for laboratory animals and after ethical approval. Thirty adult BALB/c female mice were divided into 3 equal groups, G1 (controls), G2 (ethanol 0.10 ml/100ml of PBS so that final concentration would be 0.01%) vehicle control and G3 (BPA 10 mg/kg). Chemicals were given twice a week throughout the pregnancy. Once delivered at term, female offspring were observed for body weight, behavior and movements. Blood glucose, serum insulin, cholesterol and high-density lipoprotein cholesterol (HDLc) were measured at 5 and 15 months postnatal. Animals were sacrificed at 15 months and pancreas, kidney, adipose tissue and uterine tissue were taken and stained with either Hematoxylin and eosin (H & E) or immunostaining and examined under light microscope.Results: Offspring of group G3 revealed abnormal changes of body weight, behavior and movements. Blood glucose, serum insulin, cholesterol and HDLc were high in group G3 offspring compared to controls. H & E staining showed changes in the parenchyma of pancreas, kidneys and uterus, which were confirmed by staining with anti- islet-1, kidney-specific (Ksp) cadherin, and anti- MLH antibody. Conclusion: In utero exposure of BPA exerts diabetogenic and atherogenic effects with less parenchymal tissue in endocrine pancreas, kidney and uterus.

Objectives: To analyze the antioxidant activity of Resveratrol and Ascorbic Acid against hydrogen peroxide (an oxidant) mediated cell injury of human trabecular meshwork cells. Study Design: Experimental study. Setting: Molecular Biology Laboratory at Medical Research Centre, Liaquat University of Medical & Health Sciences, Jamshoro. Period: Six months. Materials and Methods: Human Trabecular Meshwork cells were purchased from ScienCell Research Laboratories, USA. TM cell metabolism, TM cell viability and Reactive oxygen species were detected by standard methods in co- and pre- treated TM cells. Results: A significant reduction in TM cell metabolism was observed approximating 61% at 1.0 mM H2O2 compared to Ascorbate – 99% and Resveratrol 99% (p=0.0001). Resveratrol was more effective than Ascorbate even at 4.0 mM H2O2, the TM cell activity was noted 76%. Compared to H2O2- treated TM cells, resveratrol improved mitochondrial function upto 4.0 mM H2O2 (76%). Compared to co-treatment, the pretreatment shows similar results except at 4.0 mM H2O2. At 4.0 mM H2O2 the pre-treat TM cell metabolic activity was found as 11%, 31% and 47% compared to co-treat as 9%, 31% and 76% in controls, ascorbate and resveratrol groups respectively (p<0.05). Resveratrol shows significant decrease in viability was seen in controls compared to Ascorbate and Resveratrol groups. Cell viability showed statistically significant differences at 2.0 and 4.0 mM H2O2 compared to controls (P=0.0001). For reactive oxygen species (ROS), cells were incubated and with Ascorbate and Resveratrol for 24 hours and TM cells were treated with 0.0mM, 0.5 mM, 1.0 mM, 2.0mM and 4.0mM H2O2. Significant decrease in ROS was noted by Resveratrol compared to Ascorbate. Conclusions: Resveratrol and Ascorbate may prove useful in preventing and delaying the glaucoma, and timely institution of these anti – oxidants may help maintain trabecular meshwork functions and prevent visual loss.

OBJECTIVE: To evaluate the neuroprotective effects of Nigella sativa in methamphetamine induced hippocampal injury. METHODOLOGY: This Experimental study was conducted at Department of Anatomy, Liaquat University of Medical and Health Sciences (LUMHS), Jamshoro, in collaboration with Sindh Agriculture University Tandojam from April 2016 to September 2016 on sixty adult male mice of average 25-40gms. All the animals were housed properly, fed on lab chow and tap water ad libitum. The mice were divided into group A (control), B, C and D were experimental groups. Group A was given normal saline orally at the volume of 1 ml/kg. Group B animals were given METH at volume of 10 mL/kg containing 10.0 mg/kg METH. Group C animals were given Kalonji extract at the volume of 3mg/ml of extract, and Group D animals were given METH plus Kalonji extract at the same volume and dose as mentioned earlier. The animals were sacrificed by cervical dislocation after one week of last injection. Brain of each animal was removed, immersed in 10% formaldehyde solution for microscopic studies. RESULTS: The weight of different groups at baseline was equal in all groups which is reduced at the end of study period. METH treated mice showing hyper cellularity of different layers, in contrast of N.S + METH treated mice showing marked decrease in cellularity of hippocampus. CONCLUSION: The findings of above study shows neuroprotective effect of Nigella sativa against methamphetamine induced cell injury in hippocampus of mice model.

Background Glaucoma is a group of complex neurodegenerative ophthalmological disorders and is the second common of cause of irreversible blindness around the globe. Primary open-angle glaucoma (POAG) is the commonest type of all glaucoma and is characterized by elevated intraocular pressure (IOP) leading to optic nerve damage and visual field defects. Inherited mutations in CYP1B1 are a rare cause of POAG. Objective This study was conducted to screen Pakistani population with POAG for CYP1B1 variants. Methods Detailed family history was recorded from all participating families. The disease was confirmed through ophthalmological examinations. Blood samples were collected for genomic DNA extraction. CYP1B1 exons were directly sequenced in one affected individual from each family. Results CYP1B1 sequencing revealed a novel heterozygous missense variant, c.649G>A (p.Asp217Asn). All affected individuals having the variant had characteristic glaucomatous changes with mean disease onset at 35 years. The unaffected individuals in the family had no signs of POAG. The prevalence of CYP1B1 associated POAG in study cohort is 4% (1/25). In silico predictions showed that p.Asp217Asn, substitution affects the structure and function of the protein. Conclusion The study suggests that CYP1B1 mutations are considered to have have less contribution in pathogenesis of POAG in Pakistani population studied. Identification of novel dominantly inherited variant shows allelic heterogeneity and may help in early diagnosis for effective management of the disease through genetic counseling.

Cardiovascular disease and its complications are mainly causes of coronary artery disease (CAD). The distribution width of red blood cells (RDW) is a quantitative measurement of the variance in circulating erythrocyte size. Various research publications have shown that patients with previous history coronary artery disease having greater levels of Red cell distribution width are on risk of mortality and cardiovascular events. We tested the hypothesis that Red cell distribution width, Hct, and other red blood corpuscle (RBC) indices are associated with CAD. Hence, we measured RDW, Hct, and other RBC indices in AMI and stable CAD (SCAD) and compared them with age- and sex-matched controls. Objectives: To study the changes in Red cell distribution width and RBC indices in acute myocardial infarction (AMI) and SCAD and compare them with age- and sex-matched controls. Study Design: A comparative study. Setting: Department of Cardiology, Liaquat University Hospital. Period: 1st September 2013 to 28th February 2014. Material & Methods: 128 subjects (39 AMI patients, 24 SCAD patients and 65 controls). Venous samples from AMI subjects were collected in standardized ethylenediaminetetraacetic acid (EDTA) sample tubes on admission (within 6 h of chest pain). Using Sysmex KX21-N autoanalyzer, RDW and RBC indices were evaluated within 30 minutes of blood collection. Arterial blood samples were also obtained from stable CAD patients admitted to angiography and routine inspections. There has been no significant difference. Results: In total 128 patients, Mean ± SD of RDW patients with CAD was 14.12 ± 1.31%) as compared to controls (15.62 ± 6.51%) with insignificant difference (p value > 0.05). Mean ± SD of RDW patients with AMI was 14.36 ± 1.4% as compared to stable CAD (13.7 ± 1.09%) and controls (15.62 ± 6.51%) (p value > 0.05). Mean ± SD of RDW patients with Hct in patients with CAD was 43.16 ± 5% as compared to controls (41.9 ± 6.9%) with insignificant difference (p value > 0.05). Conclusions: There was no association between RWD, Hct, and other RBC indices with CAD, AMI, and stable CAD.