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Genetic variations in a disintegrin and metalloprotease 12 (ADAM12) gene may contribute to develop Osteoarthritis (OA) that is characterized by cartilage matrix degradation and osteophytes formation. Therefore, the aim of present study was to analyze the association between the ADAM12 gene variants and knee OA predisposition. Tetra-primers ARMS-PCR was employed, to genotype the ADAM12 gene polymorphisms (rs1044122 and rs1871054) in 400 knee OA patients and equal number of age-matched controls. The association between ADAM12 gene variants and OA susceptibility was estimated using the Chi-square, logistic regression, haplotypes and linkage analyses. A significant association of rs1044122 (genotype: χ

Background Recovery Education Centres (RECs) are increasingly implemented to support the process of recovery for individuals experiencing mental health challenges. However, the evidence on key REC mechanisms and outcomes, particularly for diverse subpopulations or service delivery contexts is scant. This study identified mechanisms and outcomes of an REC focused on adults with mental health challenges transitioning from homelessness. Methods Qualitative methods were used to explore in-depth the experiences of homeless and unstably housed participants experiencing mental health challenges in Toronto, Canada. Twenty service users participated in semi-structured interviews between July 2017 and June 2018, six to 14 months following REC enrollment. A realist informed interview guide explored participants’ perspectives on key REC mechanisms and outcomes. Interviews were audio-recorded, transcribed verbatim and analyzed using inductive thematic analysis. Investigator triangulation and member checking processes enhanced analytical rigour. Results Participants perceived that program participation supported the process of recovery through several mechanisms: a judgment-free environment; supportive relationships, mutuality and role modelling; deconstruction of self-stigma; and reclaiming of one’s power. Participants described several outcomes at the personal, interpersonal and social levels, including improvements in health and well-being; self-esteem, confidence and identity; sense of empowerment, control and personal responsibility; as well as improvements in interpersonal skills, pro-social behaviours and ability to self-advocate; and increased goal development and future orientation. Conclusions Findings suggest RECs can support the process of recovery among people transitioning from homelessness and can successfully support subpopulations experiencing mental health challenges and social disadvantage.

Introduction Mistreatment, discrimination, and poor psycho-social support during childbirth at health facilities are common in lower- and middle-income countries. Despite a policy directive from the World Health Organisation (WHO), no operational model exists that effectively demonstrates incorporation of these guidelines in routine facility-based maternity services. This early-phase implementation research aims to develop, implement, and test the feasibility of a service-delivery strategy to promote the culture of supportive and dignified maternity care (SDMC) at public health facilities. Methods Guided by human-centred design approach, the implementation of this study will be divided into two phases: development of intervention, and implementing and testing feasibility. The service-delivery intervention will be co-created along with relevant stakeholders and informed by contextual evidence that is generated through formative research. It will include capacity-building of maternity teams, and the improvement of governance and accountability mechanisms within public health facilities. The technical content will be primarily based on WHO’s intrapartum care guidelines and mental health Gap Action Programme (mhGAP) materials. A mixed-method, pre-post design will be used for feasibility assessment. The intervention will be implemented at six secondary-level healthcare facilities in two districts of southern Sindh, Pakistan. Data from multiple sources will be collected before, during and after the implementation of the intervention. We will assess the coverage of the intervention, challenges faced, and changes in maternity teams’ understanding and attitude towards SDMC. Additionally, women’s maternity experiences and psycho-social well-being—will inform the success of the intervention. Expected outcomes Evidence from this implementation research will enhance understanding of health systems challenges and opportunities around SDMC. A key output from this research will be the SDMC service-delivery package, comprising a comprehensive training package (on inclusive, supportive and dignified maternity care) and a field tested strategy to ensure implementation of recommended practices in routine, facility-based maternity care. Adaptation, Implementation and evaluation of SDMC package in diverse setting will be way forward. The study has been registered with clinicaltrials.gov (Registration number: NCT05146518).

Background Health information has a profound impact on developing awareness and ultimately preventing the burden of coronavirus disease-2019 (COVID-19) pandemic, but study in Bangladesh is lacking. Aims Therefore, this study was conducted to investigate the impact of information from social media and television in developing health awareness among people amid the COVID-19 pandemic. Methods Data was collected during December 10, 2020 to February 10, 2021 from 1808 people. Data was collected by using questionnaire about information source and their impact on COVID-19 related health measures. Pearson's correlation analyses was conducted. Results Female (52%, 937 of 1808) was the most prevalent sex and the mean age was 24 ± 3.9 years. Most of the social media users were students (63%, 1131 of 1808). Social media (53%, 959 of 1808) and television (44%, 800 of 1808) were the most popular sources and Facebook (66.5%, 1203 of 1808) was the most common source of getting health information. About 87% people received health information on social media and television. Users of social media had about 3 times more likelihood to follow the health rules. About 80% participants who used social media followed the health measures after 0–28 days of getting the information. The strongest correlation was found between social distancing and the information on television (r = 0.943). Conclusion Strong correlation of health information was present among the participants in building awareness about taking preventive measures. This is the first study to describe the positive influence of information amid COVID-19 in Bangladesh.

The study was designed to investigate the association between obesity and the risk of knee osteoarthritis, recruiting 400 knee osteoarthritis patients and an equal number of controls. After the informed consent, diagnosed patients from Jinnah Post Graduate Medical Centre, Karachi were included as "cases". Age-matched individuals without the disease were included as "controls". Sociodemographic data were taken from each participant. Characteristics were compared by odds ratio and chi-square using SPSS 20 software. Obesity (OR 3.29; 95% CI 2.40-4.51), female gender (OR 2.87; 95% CI 1.94-4.25) and family history (OR 3.61; 95% CI 2.69-4.85) were found to be significantly associated with osteoarthritis (p0.001). Highest OR was found in case of stair climbing10 flights/d (OR 6.08; 95% CI 4.16-8.89; p0.001), whereas heavy lifting (25 kg/d for4 hr) was observed as another major factor with OR of 5.24 (95% CI 3.54-7.75; p0.001) that elevates the risk. The study concluded that obesity is significantly associated with osteoarthritis and obese individuals (BMI25 kg/m2) are at high risk of disease development. Furthermore, family history, prolonged standing (2 h/d for1 yr), heavy lifting (25 kg/d for4 hr), stair climbing (10 flights/d) and sitting on the floor (5 h/d) might also be associated with knee osteoarthritis.

Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder characterized by increased bone fragility and low bone mass. The disorder mostly segregates in an autosomal dominant manner. However, several rare autosomal recessive and X-linked forms, caused by mutations in 18 different genes, have also been described in the literature. Here, we present five consanguineous families segregating OI in an autosomal recessive pattern. Affected individuals in the five families presented severe forms of skeletal deformities. It included frequent bone fractures with abnormal healing, short stature, facial dysmorphism, osteopenia, joint laxity, and severe scoliosis. In order to search for the causative variants, DNA of at least one affected individual in three families (A-C) were subjected to whole exome sequencing (WES). In two other families (D-E), linkage analysis using highly polymorphic microsatellite markers was followed by Sanger sequencing. Sequence analysis revealed two novels and three previously reported disease-causing variants. The two novel homozygous variants including [c.824G > A; p.(Cys275Tyr)] in the SP7 gene and [c.397C > T, p.(Gln133*)] in the SERPINF1 gene were identified in families A and B, respectively. The three previously reported homozygous variants including [c.497G > A; p.(Arg166His)] in the SPARC gene, (c.359-3C > G; intron 2) and [c.677C > T; p.(Ser226Leu)] in the WNT1 gene were identified in family C, D, and E. In conclusion, our findings provided additional evidence of involvement of homozygous sequence variants in the SP7, SERPINF1, SPARC and WNT1 genes causing severe OI. It also highlights the importance of extensive genetic investigations to search for the culprit gene in each case of skeletal deformity.

Primitive epidermis develops the nail apparatus. Nails have a strong and inflexible nail plate at the end of each digit. Very few genes responsible for causing nonsyndromic form of nail dysplasia have been reported. In the current study, peripheral blood samples were collectedfrom three unaffected individuals and four affectedindividuals of Family A, while blood from two affected and three unaffected individuals were taken of Family B. Genotyping in both the families was performed using highly polymorphic short tandem repeat microsatellite markers. Sanger sequence of the FZD6 gene was performed and analysed for segregation analysis. A comparative modelling approach was used to predict the three-dimensional structures of FZD-6 protein using Modeller 4. Linkage analysis mapped a disease locus on chromosome 8q22.3, harbouring FZD6. Targeted Sanger sequencing of all the coding exons of FZD6 revealed a nonsense sequence variant in pedigree A, whereas a missense sequence variant in pedigree B. Finding and literature indicates the disease spectrum of Pakistani population with claw-shaped nail dysplasia, particularly in families of Pashtun origin.

Behavioral problems in children are increasingly acknowledged as a global issue in mental health. Preadolescence is the transitory phase of development that links childhood and adolescence, and the presence of behavioral problems in this phase could be detrimental to children's present and future. This study aimed to describe the epidemiology of "behavioral problems" in preadolescents aged 11 to 12 years and to examine their distribution by socioeconomic status and children's characteristics while developing an in-depth understanding of the role of gender as a risk factor for such problems. A school-based, cross-sectional study was conducted in Karachi, Pakistan. Participants were selected from a middle-class, coeducational school chain. Sociodemographic questionnaires and an officially adapted version of Youth Self Report Form, which is child- and adolescent-reported version of Child Behavior Checklist, were used to collect data from children. The prevalence of Overall Behavioral Problems was 28.6%. From Broadband Scales, the relative prevalence of internalizing problems was about 52% higher than that of externalizing problems. Among the Narrowband Scales, somatic complaints were the most prevalent (23.2%). Male children significantly had higher odds for being at risk of Overall Behavioral problems, internalizing problems, and co-occurring behavioral issues, as compared to female children. The study concludes that the prevalence of overall behavioral problems is at the higher end of the global range. Male children are more at risk for overall behavioral problems, and contrary to previous studies, they are significantly more at risk of internalizing problems. Our study is the first to report the risk of co-occurrence of multiple issues with respect to gender, and adds that male children are significantly at risk of multiple co-occurring behavioral problems. Our study highlights the need for an in-depth understanding of cultural, sociopolitical conditions for actionable and gender-sensitive interventions for preadolescents.

Postaxial polydactyly (PAP) is characterized by development of extra digits, which mostly segregates in autosomal recessive pattern. The underlying genetic cause of recessive non-syndromic PAP type A has been associated with sequence variants in five different genes (ZNF141, IQCE, GLI1, FAM92A, KIAA0825). The present study was aimed to investigate clinical and genetic causes of PAPA in a consanguineous family of Pakistani origin. Microsatellite-based linkage analysis was used to search for the disease-causing gene. Linkage in the family was established at chromosome 5q15 harbouring a candidate gene KIAA0825. Subsequently, Sanger sequencing revealed a novel homozygous missense variant [c.50T>C; p. (Leu17Ser)] in the gene, which co-segregated with the disease within the family. Protein structural analysis predicted a substantial change in the secondary structure of the mutant protein affecting its function. This is the third disease causing variant identified in the KIAA0825. This has not only expanded spectrum of the mutations in the gene but also further substantiated its role in the limb development in human.

Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner. BBS is caused by disease causing sequence variants in the 22 BBS genes identified to date. In the present study, a single consanguineous Pakistani Family with BBS was clinically and genetically characterized. After establishing linkage to a BBS gene on chromosome 4q27, Sanger sequencing was performed in all available affected and unaffected members. Sequence analysis of the BBS7 gene revealed novel substitution mutation (c.719G>T; p. Gly240Val). Our findings further extend the body of evidence implicating BBS7 in causing BBS and expand the mutation spectrum.

Background Socio-demographics and comorbidities are involved in determining the severity and fatality in patients with COVID-19 suggested by studies in various countries, but study in Bangladesh is insufficient. Aims We designed the study to evaluate the association of sociodemographic and comorbidities with the prognosis of adverse health outcomes in patients with COVID-19 in Bangladesh. Methods A multivariate retrospective cohort study was conducted on data from 966 RT-PCR positive patients from eight divisions during December 13, 2020, to February 13, 2021. Variables included sociodemographic, comorbidities, symptoms, Charlson comorbidity index (CCI) and access to health facilities. Major outcome was fatality. Secondary outcomes included hospitalization, duration of hospital stay, requirement of mechanical ventilation and severity. Results Male (65.8%, 636 of 966) was predominant and mean age was 39.8 ± 12.6 years. Fever (79%), dry cough (55%), and loss of test/smell (51%) were frequent and 74% patients had >3 symptoms. Fatality was recorded in 10.5% patients. Comorbidities were found in 44% patients. Hypertension (21.5%) diabetes (14.6%), and cardiovascular diseases (11.3%) were most prevalent. Age >60 years (OR: 4.83, 95% CI: 2.45–6.49), and CCI >3 (OR: 5.48, 95% CI: 3.95–7.24) were predictors of hospitalizations. CCI >4 (aOR: 3.41, 95% CI: 2.57–6.09) was predictor of severity. Age >60 years (aOR: 3.77, 95% CI: 1.07–6.34), >3 symptoms (aOR: 2.14, 95% CI: 0.97–4.91) and CCI >3 vs. CCI 3 symptoms, increasing comorbidities, higher CCI were associated with increased hospitalization, severity and fatality in patients with COVID-19.

Domestic violence during pregnancy is an important socialhealth issue in all societies. In Muslim world and particularly underdeveloped countries, domestic violence is often under reported. It is the need of hour to encourage reporting of such eventsimplementation of research-based policies for prevention of women abusesupport of the victims of domestic violence (DV). The objective of this study was to highlight this neglected social problem of our societyto identify at risk population.This is a cross sectional study conducted at Ayub Teaching HospitalBenazir Bhutto Shaheed Teaching Hospital, Abbottabad (January 2014 to December. 2016). Pregnant women were inquired regarding history of abuse by husband and sociodemographic characteristics were noted in a Performa to analyse the risk factors for domestic violence.The overall prevalence was found to be 35%. Out of 1000 pregnant women, 270 (27%) suffered from simple violence and 60 (6%) were victims of grievous assault. Violence among pregnant women is found to be more prevalent among residents of urban areas, women of older age being uneducatedbelonging to poor socioeconomic status.Domestic violence during pregnancy is a commonoften neglected psychosocial health problem. High risk population needs to be identified so that preventive strategies can be plannedimplemented.

Mesoaxial syndactyly is characterized by fusion of the central digits. The disorder segregates in autosomal recessive pattern and mapped on human chromosome 17p13.3. Homozygous missense mutations in the BHLHA9 have been reported to cause mesoaxial synostotic syndactyly with phalangeal reduction (MSSD). In the present study, we have investigated a family segregating mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) in autosomal recessive manner. Genotyping using microsatellite markers followed by Sanger sequencing revealed a homozygous deletion and insertion mutation (NM_001164405: c.252_270delinsGCA; p.(Phe85Glufs*108)) in the BHLHA9 gene in affected individuals of the family. This study reports the first frameshift mutation in the BHLHA9 causing mesoaxial synostotic syndactyly and phalangeal reduction.

Traumatic subdural hematoma is one of the lethal injuries to brain. Various surgical techniques are used to evacuate the acute subdural hematoma. The hematoma evacuation can either be done by opening of dura by multiple slits or by opening of dura in single large c shape and then doing the expansile duraplasty. Present study aimed to compare both these techniques.This randomized control study was conducted in department of neurosurgery, Ayub Medical College, Abbottabad from July 2011 to July 2013. A total of 59 patients were included in this study, which were randomly allocated in two groups (i.e., group A and group B) for decompressive craniectomy. Thirty-one patients were operated by craniectomy with full dural flap opening (Group A), and 28 patients were operated by craniectomy with multidural-slits (Group B). Glasgow Outcome score (GOS) at 6 weeks after the surgery was used to determine the outcome.Mean age of the patients was 33.4±12.8 years. Majority were males. In group A 51.6 % (16) of the patients survived out of which a favourable outcome (GOC 3-5) was observed in 41.9% of the patients, and 9.1% of patients ended up in vegetative state. While in group B 46.4% (13) of the patients survived among which favourable outcome was seen in 39.3% of patients and 7.1% of patients ended up in vegetative state. The difference in outcome measure is insignificant.There was no statistically significant difference among the two groups as regards the mortality, GOS, frequency of complications and hospital. While the duration of surgery was significantly shorter in patients operated with dural slits.

Xanthogranulomatous inflammation is characterized by destruction of the tissues of the organ involved and replacement by chronic inflammatory cells such as lymphocytes, plasma cells, occasional neutrophils with or without multinucleated or Touton giant cells. Exact aetiology is not known but the theory of infection with organisms like Proteus, E coli, and Bacteroides fragilis is most popular. Xanthogranulomatous inflammation of the female genital tract is not common and usually involves the endometrium; however, xanthogranulomatous inflammation of the ovaries is a rare entity.

Patients who had one caesarean section were previously not given a trial of scar due to fear of increased morbidity. However, recently there has been a trend to give a trial of labour to patients with a previous caesarean section for a non-recurrent cause. Medical evidence indicates that 60-80% of women can achieve vaginal delivery after a previous lower segment caesarean section. Proper selection of patients for trial of scar and vigilant monitoring during labour will achieve successful maternal and perinatal outcome. The objective of our study is to establish the fact that vaginal delivery after one caesarean section has a high success rate in patients with previous one caesarean section for non-recurrent cause.The study was conducted in Ayub Teaching Abbottabad, Gynae-B Unit. All labouring patients, during the study period of five years, with previous one caesarean section and between 37 weeks to 41 weeks of gestation for a non-recurrent cause were included in the study. Data was recorded on special pro forma designed for the purpose. Patients who had previous classical caesarean section, more than one caesarean section, and previous caesarean section with severe wound infection, transverse lie and placenta previa in present pregnancy were excluded. Foetal macrosomia (wt4 kg) and severe IUGR with compromised blood flow on Doppler in present pregnancy were also not considered suitable for the study. Patients who had any absolute contraindication for vaginal delivery were also excluded.There were 12505 deliveries during the study period. Total vaginal deliveries were 8790 and total caesarean sections were 3715. Caesarean section rate was 29.7%. Out of these 8790 patients, 764 patients were given a trial of scar and 535 patients delivered successfully vaginally (70%). Women who presented with spontaneous onset of labour were more likely to deliver vaginally (74.8%) as compared to induction group (27.1%).Trial of vaginal birth after caesarean (VBAC) in selected cases has great importance in the present era of the rising rate of primary caesarean section.

Abnormal uterine bleeding is one of the most common clinical problems in gynaecological practice and is an indicator of various underlying disorders. An endometrial biopsy should be done in all women over 35 years with AUB to rule out endometrial cancer or pre-malignant lesion and to initiate treatment. However, wide range of histological patterns on endometrial biopsy offer a diagnostic challenge to practicing pathologists. The objective of this study was to determine histological patterns of endometrium in postmenopausal women with abnormal uterine bleeding.This cross-sectional study was conducted in the department of obstetrics and gynaecology, Benazir Bhutto Shaheed women and children teaching hospital, Abbottabad from 15/11/2014 to 14/05/2015. This study involved 110 postmenopausal women presenting with abnormal uterine bleeding. A written informed consent was obtained from every patient.The mean age of the patients was 61.60±6.17 years and the mean duration of AUB was 5.20±2.80 years. Most of the patients were para 6 (28.2%) and para 5 (28.2%) followed by para 4 (18.2%) and para 3 (17.3%) while only 8.2% were para 1. The most common histological pattern observed was complex hyperplasia without atypia (30.9%) followed by atrophic endometrium (24.5%), simple hyperplasia (23.6%), malignancy (12.7%), complex hyperplasia with atypia (4.5%) and benign endometrial polyp (3.6%). When stratified the data, there was no significant difference of histological patterns across various age groups (p=.673), duration of AUB (p=.064) and parity (p=.242).The most common histological pattern observed in postmenopausal women with AUB was complex hyperplasia without atypia (30.9%) followed by atrophic endometrium (24.5%), simple hyperplasia (23.6%), malignancy (12.7%), complex hyperplasia with atypia (4.5%) and benign endometrial polyp (3.6%).

Mutations in the CLDN14 gene are known to cause autosomal recessive (AR) non-sydromic hearing loss (NSHL) at the DFNB29 locus on chromosome 21q22.13. As part of an ongoing study to localize and identify NSHL genes, the ARNSHL segregating in four Pakistani consanguineous families were mapped to the 21q22.13 region with either established or suggestive linkage. Given the known involvement of CLDN14 gene in NSHL, DNA samples from hearing-impaired members from the four families were sequenced to potentially identify causal variants within this gene. Three novel CLDN14 mutations, c.167G>A (p.Trp56*), c.242G>A (p.Arg81His), and c.694G>A (p.Gly232Arg), segregate with hearing loss (HL) in three of the families. The previously reported CLDN14 mutation c.254T>A (p.Val85Asp) was observed in the fourth family. None of the mutations were detected in 400 Pakistani control chromosomes and all were deemed damaging based on bioinformatics analyses. The non-sense mutation c.167G>A (p.Trp56*) is the first stop codon mutation in CLDN14 gene to be identified to cause NSHL. The c.242G>A (p.Arg81His) and c.694G>A (p.Gly232Arg) mutations were identified within the first extracellular loop and the carboxyl-tail of claudin-14, respectively, which highlights the importance of the extracellular domains and phosphorylation of cytoplasmic tail residues to claudin function within the inner ear. The HL due to novel CLDN14 mutations is prelingual, severe-to-profound with greater loss in the high frequencies. © 2012 Wiley Periodicals, Inc.

Maternal mortality ratio of a country is indicative of its health and development status. Information on maternal mortality is required to determine this status and to set priorities for policy making and programmatic and operation research strategies. This study was conducted to determine the causes of maternal mortality in a tertiary care hospital.This study was conducted in Department of ObstetricsGynaecology B Unit, Ayub Medical College, Abbottabad, from January 2002 to January 2012. Data of all the pregnant patients admitted to Obs/Gyn Unit 'B' Labour Room were retrospectively collected and reviewed for the causes of direct maternal deaths.There were 21,120 deliveries during the study period. Out of these, there were 163 maternal deaths. The maternal mortality ratio was calculated as 772 per 100,000 live births. Direct maternal deaths constituted 143 (87.7%) and indirect deaths were responsible for 20 (12.3%) deaths. Haemorrhage was the leading cause of maternal death and was responsible for 43.55% of maternal deaths, while eclampsia was observed in 26.99% of maternal deaths. In 6.13% of patients rupture uterus was the cause of maternal death.Maternal mortality in our part of the world is high and most of the causes of maternal death remain haemorrhage and eclampsia. Haemorrhage which is the leading cause of maternal death is both predictable and preventable, if proper peripartum care is provided, maternal mortality can be reduced.

Ectopic pregnancy is a common life-threatening emergency in the developing world. It is a cause of maternal morbidity and mortality in the first trimester and these mortalities can be reduced if it is properly managed. The objective of this study was to assess the variable clinical presentations and outcome of treatment of ectopic pregnancy in Ayub Teaching Hospital Abbottabad.Two hundred and fifty-five patients with ectopic pregnancy managed in Ayub Teaching Hospital over period of 10 years, were included in the study. The clinical presentation, diagnostic modalities and out come of treatment were recorded and analysed.Out of 255 patients 43 (16.86%) had un-ruptured tubal pregnancy, 183 (71.76%) had ruptured ectopic pregnancy and 22 (8.62%) had chronic ectopic pregnancy. At laparotomy, salpingectomy was done in 229 (89.80%) patients, salpingo-ophrectomy in 2 patients (0.78%), linear salpingostomy in 15 (5.88%) patients. Medical treatment was given to 5 patients and 8 patients were treated conservatively. There was no maternal mortality.In spite of various recent advances in the management of ectopic pregnancy, conventional surgical treatment by laparotomy is still the most widely used modality of treatment in our institution. With appropriate and prompt management, maternal mortality due to ectopic pregnancy can be prevented.

Uterine fibroids are the most common type of tumours in women arising from uterine myometrium and less commonly from cervix. Objective of the study was to check the safety of caesarean myomectomy.Patients attending Gynaecology-B Unit of Ayub Teaching Hospital having pregnancy with fibroid and undergoing myomectomy along with caesarean section (CS) were included in this prospective study during Jan 2010-Dec 2011. Intra-operative and postoperative maternal morbidity in terms of blood loss, operative time and length of hospital stay was compared to matched pregnant woman with caesarean section alone.Out of 6,000 antenatal mothers registered during the study period myoma was detected in 96 (1.6%) cases. Mean age of mother having myoma was 28 years, 70% were primigravida, and mean haemoglobin was 10.56 gm%. Size of myoma was 12 Cm in 30% cases 5 Cm in 23% and more than 1 myoma in 60% cases. There was no significant difference in intra-operative haemorrhage and length of hospital state in comparison matched women with CS although operating time was double than later. None required caesarean hysterectomy.Myomectomy can be safely performed in majority of carefully selected patients with myomas without any serious life threatening complications.

Emergency peripartum hysterectomy (EPH) is a life saving procedure considered in cases of severe haemorrhage unresponsive to medical and conservative surgical procedures. The aim of present study was to review the frequency, indications, maternal morbidity and mortality associated with emergency peripartum hysterectomy in a tertiary care hospital in a developing country.This was a cross sectional study in which data was retrospectively collected from January 2000 to December 2010. Main outcome measures were maternal morbidity and mortality associated with EPH.The incidence of EPH was 10.52/1000 deliveries. The main causes of EPH were rupture uterus 76 (34.86%), atonic uterus 65 (29.81%), placenta accreta 19 (8.71%), placenta previa 17 (7.7%), and placental abruption 36 (16.5%). Mostly subtotal hysterectomy was the preferred method done in 196 (89.9%) of cases, while total abdominal hysterectomy was done only in 22 (10.09%) of cases. The over all complication rate was 81.2% which included both minor and major complications like hypovolemic shock 180 (82.5%), febrile morbidity 108 (49.5%), wound infection 40 (18.3%), bladder injury 6 (2.75%), and thrombophlebitis 22 (10.09%). The maternal mortality in present review was (10.5%).Frequency of EPH was found to be high in this study. Obstetricians must be skilled in it particularly in developing countries where the main indication of hysterectomy is rupture uterus.

2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is a highly toxic environmental contaminant found in soils and sediments. Because of its exceptionally low water solubility, this compound exists predominantly in the sorbed state in natural environments. Clay minerals, especially expandable smectite clays, are one of the major component geosorbents in soils and sediments that can function as an effective adsorbent for environmental dioxins, including TCDD. In this study, TCDD was intercalated in the smectite clay saponite by an incipient wetness method. The primary goal of this study was to intercalate TCDD in natural K-saponite clay and evaluate its immunotoxic effects in vivo. The relative bioavailability of TCDD was evaluated by comparing the metabolic activity of TCDD administered in the adsorbed state as an intercalate in saponite and freely dissolved in corn oil. This comparison revealed nearly identical TCDD-induced suppression of humoral immunity, a well-established and sensitive sequela, in a mammalian (mouse) model. This result suggests that TCDD adsorbed by clays is likely to be available for biouptake and biodistribution in mammals, consistent with previous observations of TCDD in livestock exposed to dioxin-contaminated ball clays that were used as feed additives. Adsorption of TCDD by clay minerals does not appear to mitigate risk associated with TCDD exposure substantially. Environ. Toxicol. Chem. 2011;30:2748–2755. © 2011 SETAC

Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consanguineous Pakistani families with autosomal recessive primary microcephaly. Methods As part of a large study to detect the genetic basis of primary microcephaly in Pakistan, homozygosity mapping and DNA sequencing was used to explore the genetic basis of autosomal recessive primary microcephaly in four families. Results Four out of 100 families recruited in the study revealed linkage to the MCPH2 locus on chromosome 19, which harbor WDR62 gene. DNA sequencing in these MCPH2 linked families result in the identification of a novel nonsense mutation (p.Q648X) and three previously known mutations. Conclusion Our data indicate that WDR62 mutations cause about 4% of autosomal recessive primary microcephaly in Pakistan.

Chondroectodermal dysplasias are genetically heterogeneous group of disorders involving defects in one or more ectodermal appendages (hair, nail, teeth and sweat glands) in association with anomalies of the cartilage. In the present study a novel form of chondroectodermal dysplasia, segregating in an autosomal recessive pattern in a Pakistani family, was investigated. The clinical features including proportionate short stature, osteopenia with fracturing and breaking of bones, hypodontia, hypertrophic and convex shaped nails, night blindness, watering eyes and infection of ears were observed in affected individuals of the family. Genetic linkage study mapped the novel autosomal recessive form of chondroectodermal dysplasia on human chromosome 2q24.1-q31.1. Linkage to the region was established by scanning human genome using Human Mapping 250K Nsp array. Linkage interval for chondroectodermal dysplasia on human chromosome 2q24.1-q31.1 spans 13.76 cM, which corresponds to 15.72 Mb according to the sequence-based physical map (Build 36.2). The maximum multipoint LOD score of 3.37 was obtained with several markers along the disease interval. Sequence analysis of three candidate genes ( TANK , ITGB6 , TBR1 ) located in the candidate interval did not discover potentially causal variants.

Background Deficiency of cathepsin K ( CTSK), a lysosomal cysteine protease, has been shown earlier as a cause of an autosomal recessive osteosclerotic skeletal dysplasia pycnodysostosis. The objective of the present study was to identify the potential sequence variants in CTSK gene in a large consanguineous Pakistani family with pycnodysostosis. Methods Genotyping of 4 affected and 6 unaffected members of the family was performed using polymorphic microsatellite markers linked to CTSK gene on chromosome 1q21. To screen for pathogenic mutation, exons and splice junctions of CTSK gene were polymerase chain reaction amplified from genomic DNA and sequenced directly in an automated DNA sequencer. Results Microsatellite analysis showed linkage of the family to CTSK gene on chromosome 1q21. Sequence analysis revealed a novel missense mutation c.728G>A (p.G243E) in exon 6 of the CTSK gene. Conclusions A novel missense mutation was identified in CTSK gene in a Pakistani family with 5 individuals affected with autosomal recessive pycnodysostosis

To identify Byssinosis in cotton spinning mill workers, probable associations of disease with factors such as different work areas, safety gadget usage and overtime and to ascertain proportions of byssinosis to accidental injuries.This study was conducted in a spinning mill of Karachi in June 2006. Mill workers who had worked for a period of minimum 5 years were selected. A sample size of 83 conveniently selected workers participated in the research study. Data collection was done via questionnaire, and pulmonary function tests.The mean age of the sample was 30 +/- 6.9 years. Of all the workers 72% used safety gadgets (masks) while working and 50% availed overtime. Smokers amounted to 31% of the total subjects. Around 35% workers complained of having respiratory ailments of which 19% (16 workers) closely matched byssinotic symptoms. Pulmonary Function Tests (PFTs) confirmed 13 of 16 workers to be byssinotics, with the remaining being labeled as Probables. The overall proportion of Byssinotics in the mill was 19.28% (95% C.I. 11-27) and that of accidental injuries was 22.9%. The association of byssinosis with respect to work areas was significantly high in Ring area (O.R. = 2.04) followed by carding (O.R. = 1.3). The association of byssinosis was also high in workers who did not use safety gadgets, e.g. dust masks (O.R = 4.89) and in people who worked overtime (O.R. = 1.82). Associations with respect to duration of employment and smoking could not yield significant results.Results indicate a very high probability of association of disease to non-usage of safety gadgets and overtime working. Studies comprising of a greater sample size would show precisely the overall prevalence of the disease.

This study was carried out evaluate to epidemiology, clinical presentation and prognostics aspects of patients presenting with eclampsia.This study was carried out at Gynae "C" unit of Ayub Teaching Hospital Abbottabad from 1st July 2003 to 31st October 2004. All patients presenting with eclampsia to the labor ward were included in the study. The diagnosis was based on history and confirmed on clinical findings of hypertension, oedema, proteinuria superimposed with fits. Patients with history of fits during pregnancy, labor and peurperium other than eclampsia were excluded from study. History physical findings and base line investigation were recorded on a proforma.A total of 2100 admissions were made in the labor ward during this period and out of them 68 cases (3.23%) were of eclampsia. Out of them 28 were primigravidae, 14 multigravidae and 26 grandmultigravidae. The seasonal frequency of cases was 29.41% in winters, 42.64% in autumn, 19.11% in summers and 8.82% in spring. Out of these 11.76% cases were complicated with retroplacental haemorrage and the same number with aspiration pneumonia, while Cerebrovascular Accident (2.94%) Acute tubular necrosis (2.94%) and Disseminated intravascular clotting (4.4%) were also seen. Among the new borns prematurity was found to be the major cause of perinatal mortality.Eclampsia is a dreadful complication of Pre Eclamptic Toxemia of pregnancy associated with high perinatal and maternal mortality. A qualitative and quantitative improvement in prenatal consultation should make it possible to reduce incidence of eclampsia measuring arterial blood pressure daily during antenatal period and for at least 14-days postpartum appears to be necessary for diagnosis and treatment for all cases of hypertension.

Hysterectomy is one of the most common major surgical procedures performed in Gynaecology. Our objective was to determine the operative and postoperative complications of this procedure with an aim to improve management at our unit.This study was conducted in the Department of Gynaecology, Ayub Teaching Hospital, Abbottabad form January 2002 to December 2003. Indications, complications and mortality associated with hysterectomy were assessed.Total number of hysterectomies performed in two years at our unit was 316. Major Indications for hysterectomies were dysfunctional uterine bleeding (38%) and fibroid uterus, (27%) followed by prolapse (22%). Complications developed in 14% out of these. The frequency of complications was related with indication for hysterectomy, age, parity and history of associated serious illness. It was found that frequency of complications in fibroid uterus was higher (1.2%) than that for Dysfunctional uterine bleeding (DUB) (1.0%). There was no operative death, while 5 (1.5%) patients died within 2 weeks of surgery.We have a fairly high frequency of morbidity and mortality associated with hysterectomy. In order to reduce these proper selection, pre-operative preparation and less invasive alternative treatment for the commonest indications of hysterectomy (that is fibroids and DUB) for example various methods of endometrial ablation or resections can be employed.