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Background: After menstrual irregularities, second common gynecological problem is vaginal discharge. Change in dynamic ecosystem of vaginal flora can cause the overgrowth of pathological microorganism that creates vaginal discharge. Owing to syndromic approach in low income countries, the identification of specific causative organism is masked. Aim: To determine the frequency of various micro-organism in high vaginal swab obtained from women in outpatient department presenting with vaginal discharge. Methodology: We conducted this cross sectional descriptive studybetween January 2022 to December 2022 at Hayatabad Medical Complex, Peshawar. 431 patients were enrolled according to selection criteria. Attending Gynecologist carried out the complete evaluation & established a clinical diagnosis & collected HVS and sent to microbiological laboratory of the institution for reporting. In order to evaluate the participant characteristics and the prevalence of vaginal infections, descriptive statistics were performed. Results: Of the 431 patients who presented with vagina discharge, their high vaginal swabs were sent for culture, 245(57.1%) cases were found positive for pathogens. Among the positive cases, bacterial vaginosis (29.21%) was followed by vaginal candidiasis as the most prevalent microbiological cause of abnormal vaginal discharge (21.2%), trichomonasvaginalis (15.5%) and combined infection (1.63%). Among the positive culture (32.2%) women had normal flora and (43.2%) patients with vaginal discharge had no growth on culture. Practical implication: To detect the most common organism found in vaginal discharge and treat promptly to reduce drugs resistance and prevent complications like chronic pelvic pain preterm labour and infertility. Conclusion: Bacterial vaginosis is the most frequent finding of women presenting with vaginal discharge in Out-Patient Department of our hospital followed be vaginal candidiasis and Trichomonasvaginalis. Keywords: High vaginal swab,Trichomonasvaginalis, Bacterial vaginosis, Vaginal discharge Vaginal candidiasis.

Objective: The aim of this study is to review the current guidelines regarding the management of HMB, including screening for anemia, Iron studies and iron-based and non-iron-based treatment of ID/IDA. Methods: The literature searched for this article included the latest Guidelines for HMB. The data was collected from authentic websites such as pubmed and well-known clinical guidelines from professional societies. Results: More than 50 guidelines throughout the world were searched and studied for this review. Among them 22 were selected for this review. 16 of these guidelines focused on screening of women with HMB for anemia. There were some inconsistencies concerning screening for ID with eleven of the 22 guidelines providing no recommendation for screening of Iron levels and four even strictly advising against screening for iron levels initially. Almost one third of the selected guidelines provided guidance for oral iron therapy as first line in ID, 4 guidelines provided guidance for use of IV iron replacement in severe anemia, non-responders to oral treatment and prior to surgery. 3 of the guidelines had HB threshold for selecting between oral and IV route while further 4 guidelines were of the view of transfusion in case of severe anemia. Conclusion: Although many of the guidelines are of the view to treat anemia due to HMB, there is lack of consensus regarding screening for ID and treatment with iron supplements, due to this most of the IDA related with HMB goes undiagnosed. Therefore, a proper guidance is required that addresses all the aspects of ID/IDA including screening, relevant tests and treatment in patient with HMB in order to optimize the health outcome of these patients. Keywords: Anemia, Blood, Menstrual Cycle, Surgery

Polycystic ovary syndrome (PCOS) is a common endocrine-metabolic disorder and the main cause of infertility in women of reproductive age. Affected women suffer from insulin resistance and present with an intense stress response. Treatment with insulin sensitizers alone and in combination is used to ameliorate the signs and symptoms associated with the disease. This study was designed to compare the endocrine and metabolic parameters as well as subjective and objective measures of stress in women with PCOS before and after treatment with acetyl-l-carnitine (ALC) and metformin plus pioglitazone. A total of 147 women with PCOS were randomly assigned into two groups: the combo group (n = 72) received a combination of metformin, pioglitazone, and ALC (500 mg, 15 mg, and 1500 mg, respectively), twice daily; the Met + Pio group (n = 75) received metformin plus pioglitazone (500 mg, 15 mg, respectively) and placebo (citric acid plus calcium carbonate), twice daily for 12 weeks. Medications were discontinued when pregnancy was confirmed. The Perceived Stress Scale (PSS14) and Profile of Mood States (POMS) were employed as subjective measures of stress. The endocrine and metabolic functions of women with PCOS were assessed by measuring insulin, leutinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone, and adiponectin levels in fasting blood samples. Insulin resistance was calculated by Homeostatic Model Assessment of Insulin Resistance (HOMA-IR). Women at baseline had significantly elevated circulating concentration of insulin and low level of adiponectin. Treatment decreased insulin in both groups; however, the combo group showed a significant decrease (p = 0.001). Serum adiponectin level was raised significantly after treatment in both groups (p

Objective: To find out the determinants affecting the different management options of tubal ectopic pregnancy. Methodology: This cross sectional study was carried out in the Unit A of the department of obstetrics and gynecol­ogy, Hayatabad Medical Complex, Peshawar from December 2014 to March 2018. All the patients admitted with clinical/ultrasound diagnosis of tubal ectopic pregnancy were included in the study through convenient sampling technique after informed consent. Patients having other early pregnancy problems which would mimic tubal ec­topic pregnancy and those having any medical contraindications to Methotrexate were excluded. A pre-designed performa was used to collect the data, which was analyzed using SPSS v.22.0. Results: The mean age of the sample (n=78) was 27.0±7.8 years. Maximum patients were multigravida (n=41, 52.6%), followed by primigravida (n=25, 32.0%). In treatment modalities, maximum of the cases (n=43, 55.1%) were managed medically via methotrexate with success rate of 93.0%, while 18 (23.1%) cases were managed conservatively with success rate of 83.3%, and 17 (21.8%) of the cases were managed surgically with 100% suc­cess rate. The maximum size of adnexal mass was found to be as 8.6×7, 10×7, and 8×6 in three management options, i.e., conservative, medical and surgical respectively, while in the same categories, maximum Beta-Human Chorionic Gonadotropin (B-hCG) level was found to be as 978, 43220, and 29844 mIU/ml respectively. Conclusion: Hemodynamic instability and rising B-hCG were the core determinants in the management of tubal ectopic pregnancy. The size of the adnexal mass and the initial B-hCG did not affect the management.

Background The COVID-19 pandemic and associated restrictions are expected to affect the mental health of the population, especially people with intellectual disability and/or autism spectrum disorder, because of a variety of biological and psychosocial reasons. Aims This study aimed to estimate if COVID-19 restrictions are associated with a change in number of total consultations carried out by psychiatrists and prescription of psychotropic medication in people with intellectual disability and/or autism spectrum disorder, within a community intellectual disability service. Method A quantitative observational study was conducted, involving retrospective and prospective data collection before and during lockdown. Data was collected on a spreadsheet and emailed to all psychiatrists working within the Coventry and Warwickshire Partnership NHS Trust-wide community intellectual disability service. Variables included total consultations, medication interventions, types of medications used, multidisciplinary team input and clinical reasons for medication interventions. Data was analysed separately for child and adolescent mental health services (CAMHS) and adult intellectual disability teams, and for the whole service. Results During the lockdown period, total consultations in the community intellectual disability service increased by 19 per week and medication interventions increased by two per week. Multidisciplinary team input increased in CAMHS from 0.17 to 0.71 per week and in adult intellectual disability from 5.7 to 6.5 per week. Hypnotics and benzodiazepines were the most commonly prescribed psychotropic medications during the lockdown period. Conclusions COVID-19-related lockdown resulted in an increase in medication interventions, total consultations and involvement of multidisciplinary teams to manage mental health and behavioural issues in people with intellectual disability and/or autism spectrum disorder.

Peroxisomes, single-membrane intracellular organelles, play an important role in various metabolic pathways. The translocation of proteins from the cytosol to peroxisomes depends on peroxisome import receptor proteins and defects in peroxisome transport result in a wide spectrum of peroxisomal disorders. Here, we report a large consanguineous family with autosomal recessive congenital cataracts and developmental defects. Genome-wide linkage analysis localized the critical interval to chromosome 12p with a maximum two-point LOD score of 4.2 (θ = 0). Next-generation exome sequencing identified a novel homozygous missense variant (c.653 T > C; p.F218S) in peroxisomal biogenesis factor 5 (PEX5), a peroxisome import receptor protein. This missense mutation was confirmed by bidirectional Sanger sequencing. It segregated with the disease phenotype in the family and was absent in ethnically matched control chromosomes. The lens-specific knockout mice of Pex5 recapitulated the cataractous phenotype. In vitro import assays revealed a normal capacity of the mutant PEX5 to enter the peroxisomal Docking/Translocation Module (DTM) in the presence of peroxisome targeting signal 1 (PTS1) cargo protein, be monoubiquitinated and exported back into the cytosol. Importantly, the mutant PEX5 protein was unable to form a stable trimeric complex with peroxisomal biogenesis factor 7 (PEX7) and a peroxisome targeting signal 2 (PTS2) cargo protein and, therefore, failed to promote the import of PTS2 cargo proteins into peroxisomes. In conclusion, we report a novel missense mutation in PEX5 responsible for the defective import of PTS2 cargo proteins into peroxisomes resulting in congenital cataracts and developmental defects.

This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resulted in the identification of a previously reported nonsense mutation, c.847C > T, in exon 5 of CERKL in one family and a novel four-base pair deletion in exon 4 of RP1, c.delAGAA4218_4221, leading to premature protein termination in the second family. Here, we report two RP-causing mutations extending the genetic heterogeneity of the disease.

OBJECTIVE: To determine diagnostic accuracy of spot urine protein to creatinine ratio (PCR) for estimation of significant proteinuria in patients of preeclampsia based on 24-hour urine protein. METHODS: This cross-sectional validation study was conducted at Gynae B unit, Lady Reading Hospital, Peshawar from July 2014 to December 2014. Out of 253 patients, 222 women were finally enrolled as per inclusion and exclusion criteria by using non-probability convenient sampling technique. After taking proper history and calculating period of gestation, blood pressure was measured using standard sphygmomanometer while urinary protein by urine dipsticks. Following standard protocol, urine was collected for 24 hours followed by spot midstream urine. Samples were analyzed for urine protein and creatinine. 24 hours urinary protein level ≥300 mg/day and Spot urine PCR was ≥3 mg/mmol was considered significant proteinuria. SPSS v 16.0 was used a statistical instrument. RESULTS: Out of 222 patients with preeclampsia, 24-hours urinary protein level estimation was ≥300 mg/day in 179 (80.6%) cases and 0.3 mg/mmol). This test can be regarded as a reliable investigation among pre-eclamptic patients.

The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree.All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation.Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion.Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.

SummaryThere has been growing media and political awareness of forced marriage in recent years, and individuals in England, Wales and Northern Ireland are now protected by the Forced Marriage (Civil Protection) Act 2007. Victims of forced marriage can experience significant abuse, which may lead to mental health problems. People with severe mental illness or intellectual disability may be at increased risk of forced marriage and more vulnerable to its negative consequences. We review the current literature on forced marriage, focusing on the way it might affect these two groups, touch on its potential mental health consequences and give practical examples of how to manage situations in clinical practice.

PURPOSE The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. METHODS All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. RESULTS Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. CONCLUSION Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.

Glaucoma is the second leading cause of blindness, affecting ~65 million people worldwide. We identified and ascertained a large cohort of inbred families with multiple individuals manifesting cardinal symptoms of primary congenital glaucoma (PCG) to investigate the etiology of the disease at a molecular level. Ophthalmic examinations, including slit-lamp microscopy and applanation tonometry, were performed to characterize the causal phenotype and confirm that affected individuals fulfilled the diagnostic criteria for PCG. Subsequently, exclusion analysis was completed with fluorescently labeled short tandem repeat markers, followed by Sanger sequencing to identify pathogenic variants. Exclusion analysis suggested linkage to the CYP1B1 locus, with positive two-point logarithm of odds scores in 23 families, while Sanger sequencing identified a total of 11 variants, including two novel mutations, in 23 families. All mutations segregated with the disease phenotype in their respective families. These included the following seven missense mutations: p.Y81N, p.E229K, p.R368H, p.R390H, p.W434R, p.R444Q and p.R469W, as well as one nonsense mutation, p.Q37*, and three frameshift mutations, p.W246Lfs81*, p.T404Sfs30* and p.P442Qfs15*. In conclusion, we identified a total of 11 mutations, reconfirming the genetic heterogeneity of CYP1B1 in the pathogenesis of PCG. To the best of our knowledge, this is the largest study investigating the contribution of CYP1B1 to the pathogenesis of PCG in the Pakistani population.

Purpose To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family. Methods All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy. A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic membrane protein 2), was sequenced bi-directionally to identify the disease-causing mutation. The physical changes caused by the mutation were analyzed in silico through homology modeling, mutation and bioinformatic algorithms, and evolutionary conservation databases. The physiological importance of LIM2 to ocular development was assessed in vivo by real-time expression analysis of Lim2 in a mouse model. Results Ophthalmic examination confirmed the diagnosis of nuclear cataracts in the affected members of the family; the inheritance pattern and cataract development in early infancy indicated arCC. Genome-wide linkage analysis localized the critical interval to chromosome 19q with a two-point logarithm of odds (LOD) score of 3.25. Bidirectional sequencing identified a novel missense mutation, c.233G>A (p.G78D) in LIM2. This mutation segregated with the disease phenotype and was absent in 192 ethnically matched control chromosomes. In silico analysis predicted lower hydropathicity and hydrophobicity but higher polarity of the mutant LIM2-encoded protein (MP19) compared to the wild-type. Moreover, these analyses predicted that the mutation would disrupt the secondary structure of a transmembrane domain of MP19. The expression of Lim2, which was detected in the mouse lens as early as embryonic day 15 (E15) increased after birth to a level that was sustained through the postnatal time points. Conclusion A novel missense mutation in LIM2 is responsible for autosomal recessive congenital cataracts.

Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. By a combination of linkage analysis, homozygosity mapping, and exome sequencing in three families, we identified mutations in CLPP as the likely cause of this phenotype. In each family, affected individuals were homozygous for a different pathogenic CLPP allele: c.433A>C (p.Thr145Pro), c.440G>C (p.Cys147Ser), or an experimentally demonstrated splice-donor-site mutation, c.270+4A>G. CLPP, a component of a mitochondrial ATP-dependent proteolytic complex, is a highly conserved endopeptidase encoded by CLPP and forms an element of the evolutionarily ancient mitochondrial unfolded-protein response (UPRmt) stress signaling pathway. Crystal-structure modeling suggests that both substitutions would alter the structure of the CLPP barrel chamber that captures unfolded proteins and exposes them to proteolysis. Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome.

To assess the success rate of External Cephalic Version (ECV) at term and its effects on measures of pregnancy outcome.A quasi-experimental study.The study was conducted at Hayatabad Medical Complex, Peshawar, from December 2003 to January 2005.A total of 40 patients were offered ECV over a period of fourteen months. All singleton breech presentations with an otherwise normal antenatal course between 36-41 weeks of gestation were included in the study. Exclusion criteria included contraindications to ECV i.e. multiple pregnancy, oligohydramnios, growth retardation, antepartum hemorrhage, rupture of membranes toxemias of pregnancy, non-reassuring fetal monitoring pattern, previous uterine scar, bad obstetric history, any contraindication to vaginal delivery, labour and patient wishes after thorough counseling. Overall success rate of the procedure and its effect on maternal and fetal outcome was determined. Significance of results was determined using Chi-square test.A total of 40 patients were recruited for the trial. Overall success rate was 67.5% with only 30% being primi-gravida (p0.05). Multi-gravida showed higher success rate of 80%. Following successful ECV, spontaneous vaginal delivery was attained in 77.7% (n=21), while caesarean section was performed due to various indications in about 6 cases (p0.05). Following failed version, 61.5% (n=8) had elective C/S and only 5 delivered vaginally. Route of delivery did not affect the perinatal outcome except for congenital abnormalities. Following successful ECV, there was only one stillbirth. Overall live births associated with successful version was 96.2% (p0.05), while in failed version, there were no fetal deaths.ECV at term appears to be a useful procedure to reduce the number and associated complications of term breech presentation. It is safe for the mother and the fetus and helps to avoid a significant number of caesarean sections.

An analysis of a 5-year clinical experience in the management of gestational trophoblastic tumours in a tertiary care hospital.A prospective cohort follow-up study.The study was conducted at Hayatabad Medical Complex, Peshawar from 1998 to 2003.A total of 30 cases were managed and a detailed analysis of these patients was done. Of these 13 followed Hydatidiform Mole, 10 after abortion and 7 after a term pregnancy.Out of 30 cases of gestational trophoblastic tumour, 63.3% were between 21 and 38 years of age. Ninety percent of the patients presented with vaginal bleeding, while life-threatening hemorrhage occurred in 23.3%of the cases.43.3% of the patients had hydatidiform mole as an antecedent pregnancy and 36.7% of the patients presented within four months of the antecedent pregnancy. Blood groups O and B were most frequently encountered i.e. in 40% and 33.3% of the cases. Metastatic disease was present in 46.6% of the cases, of which 8 were high risk and one was of medium risk group. Major sites of metastasis were lungs (33.3%) and vagina (30%). Serum BHCG of 40,000 miu / ml and above was present in 53.3% of the cases (P=0.016) and number of metastasis8 were found in 16.7% cases (P=0.001). Prior chemotherapy was given in only 2 patients and both of them died due to resistance. Chemotherapy was given to 100% of patients; survival was 100% in low-risk group and 50% in high-risk group (P=0.004). Overall mortality was 20% i.e. 6 patients died of the disease. Major side effects of chemotherapy were stomatitis (66.6%), alopecia (56.6%), low hemoglobin (60%), weight loss and recurrent infection.Late diagnosis, previously failed chemotherapy and high WHO prognostic scores are major risk factors affecting outcome in these patients. Hence every female in reproductive age group with unexplained bleeding per vaginum should be investigated with serum BHCG (Beta human chorionic gonadotrophin).