Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

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Different pattern of presentation of ectopic pregnancy and its management

To determine the clinical presentations and the management options for ectopic pregnancy. Descriptive study. Department of Obstetrics and Gynecology Liaquat National Hospital Karachi, from 13[th] August 2011 to 12[th] August 2012. A total of 40 cases diagnosed with ectopic gestation were included in this study. Information was retrieved from the case notes and labor ward registers. The data was analyzed with simple descriptive statistics. During the study period the total number of gynecological admissions were 1126 and 1618 deliveries conducted. Forty patients had ectopic gestations accounting for 2.4% of all deliveries and 3.5% of all gynecological admissions. The peak age group was 20-30 year [62.5%]; 95% [n=38] were married. Cases of ectopic pregnancy found more in primigravida 45% [n=18] patients. Abdominal pain was the most common presenting symptom in 92.5% [n=37] of patients whereas history of amenorrhea present in 75% and vaginal bleeding was found in 45% of patients. Commonest clinical sign was cervical excitation present in 82%. Identifiable risk factors were present in 52.5% of cases, the most frequent being previous miscarriages in 22.5%. Surgical management was done in 95% patients while 5% managed medically. Ruptured ectopic pregnancy was seen in 85%. Tubal ectopic pregnancy was present in 92.5% [n=37], ovarian 2.5%, and heterotopic pregnancy in 2.5%. Salpingectomy was performed in 89% while salpingotomy done in 7.8% cases. Hysterectomy was done in one patient. Blood was transfused in 75% [n=30] patients. There was no maternal death related to ectopic pregnancy. Ectopic pregnancy was found more in primigravida. Abdominal pain was the single most consistent feature of ectopic pregnancy. Most cases presented late making tubal conservation treatment inapplicable.

Fetomaternal outcome with hepatitis E in pregnancy

To assess the maternal morbidity and mortality and fetal outcome with hepatitis E [HEV] in pregnancy. Cross-sectional study. Liaquat National Hospital, Karachi, from May 2008 to April 2010. Thirty patients admitted at Gynae Ward with serologically proven HEV in pregnancy were included in the study. All these patients were followed during their hospital stay with liver function tests and coagulation profile. Maternal morbidity and mortality and fetal outcome were recorded. Maximum maternal morbidities were noted in patients who presented in 3rd trimester, both clinically and derangement of haematological and biochemical tests. out of 30 patients, 08 patients expired with maternal mortality rate of 29.3% and rest were discharged safely. Perinatal mortality rate was 30.3 per 1000 live births. Hepatitis E runs a fulminant course during pregnancy with very high mortality rate especially during third trimester and postpartum period

Posterior reversible encephalopathy syndrome

Posterior reversible encephalopathy syndrome [PRES] is a clinico-neuro-radiological entity may develop in patients with pre-eclampsia, eclampsia or delayed postpartum eclampsia, immunological conditions and with certain anti-neoplastic agents. This case report describes about a patient with pregnancy induced hypertension who developed PRES postnatally. Early recognition and treatment prevented serious morbidity

Awareness and practice of contraception among child bearing age women

To assess the awareness and practice of contraception among child bearing women attending tertiary care hospital. Cross-sectional. This study was conducted at the outpatient department of Gynecology and Obstetrics Liaquat National Medical College and Hospital Karachi, from May 2008 to July 2008. Two hundred women of child bearing age were interviewed regarding their awareness, attitude and practices of contraception. The inquiries were recorded by pre designed questionnaire. Questions regarding methods of contraception known and source of knowledge and their practices were recorded. Convenient sampling was used to distribute questionnaire. Mean age of the patients was 29.88 years [SD 6.38 years]. 73% of the women were educated, and majority of them were Muslims. Awareness was seen regarding contraception in 81% of the women interviewed but only 49% practiced any method. Barrier method of contraception was the most popular method known and practiced. Media seemed to be the major source of information [64.5%]. In response to the reason for non use, majority feared side effects [56.8%]. Major reason for use of contraception was spacing [47.9%]. Majority [77.5%] of women had assertive attitude towards contraception. There is a gap between awareness and practice of contraception. Despite having knowledge the compliance is low. One of the major factors among reasons of non use of contraception is fear of side effects

To study the incidence of surgical site infection in surgical unit of DHQ teaching hospital, D.I.Khan

To study the incidence of surgical site infection using standard prophylactic techniques in surgical unit patients of DHQ teaching hospital over two years. District Head-quarters Teaching Hospital, D I Khan from 1[st] January 2008 to 31 [st] December 2009. A prospective study on 1000 patients admitted for different types of operations. Only patients admitted for elective operations were included in this study. All these patients were given three standard doses of Prophylactic antibiotics i.e. one gram of third generation cephalosporin at the induction of anaesthesia, the second dose after twelve hours after the first dose and third dose after twenty four hours the fist dose. Surgical Site Infection was observed in 35 patients out of 1000 elective surgeries done over two years. Twenty one patients had Superficial Incisional Surgical Site infection. Ten patients had deep Incisional Surgical Site Infection and Four Patients had Organ/ Space Surgical Site Infection. The study shows that Surgical Site Infections [SSIs] in elective surgeries done in the surgical department of DHQ Teaching hospital D.I.Khan Pakistan is well within the Standard normal level [3.5%]

Public health problems in low and high socio economic areas of Karachi, Pakistan

Despite many media campaigns by government and private sectors highlighting, water and sanitation treatment plans and policies, the public health problems are still common in different socioeconomic areas. The objective of our study was to explore the major public health problems prevailing in two different socioeconomic areas. The objective of our study was to explore the major public health problems prevailing in two different socio economic areas in Karachi, Pakistan. A cross sectional survey was conducted from January 1, 2008, to June 15, 2008. Convenience sampling was used to select the EVACUE housing situated and model village. From each house selected, interviews were conducted based on one participant per house. The main outcome variables were measure of different qualities of drinking water safety, taste, etc. Problems of waste and sanitation included disposal of solid waste and leakage of drainage system in the area. The results found water quality to be good with safe drinking water and less residents complained in EVACUEE as compared to Model. Health problems of drinking water and sanitation were more prevalent in low socio economic areas as compared to higher socio economic area

Congenital adrenal hyperplasia causing clitoromegaly

Congenital Adrenal Hyperplasia [CAH] is caused by congenital insufficiency of the enzyme 21 - hydroxylase [21-OHD] in the cortisol synthesis pathway. Because of the virilizing effects of androgens over-production, affected girls develop clitoral hypertrophy. Three patients with CAH are discussed below along with their surgical management and follow-up

Contraceptive knowledge, attitude and practice among rural women

To assess the knowledge, attitude regarding family planning and the practice of contraceptives among rural women. A cross-sectional observational study. The gynaecological outpatient clinic of Fatima Hospital, Baqai Medical University, Karachi, from July to December 2005. One-hundred women between the ages 15-45, living with their husbands and coming from rural area [villages] were interviewed. Women who were pregnant, had a child younger than 2 years, or had any medical disorder were excluded. Their knowledge, attitude and practice on contraceptives were evaluated with the help of a predesigned questionnaire. The other variables used were the age of women, parity and educational status. Descriptive analysis was conducted to obtain percentages. Out of 100 interviewed women with mean age of 29.7 years, 81[81%] had some knowledge about family planning methods. The media provided information of contraceptives in 52 out of 81 [64%] women. Regarding the usage of contraceptive methods, only 53 [53%] of the respondents were using some sort of contraception. Barrier method [condoms] was in practice by 18 [33.9%] and 12 [22.6%] of women had already undergone tubal ligation. The women using injectables and intrauterine contraceptive devices were 10 [18.8%] and 7 [13.2%] respectively. Six were using oral contraceptive pills [11.3%]. Positive attitude towards contraception was shown by 76 [76%] of them, while 41[41%] stated their husbands' positive attitude towards contraception. In the present study, there was a low contraceptive use among women of rural origin despite good knowledge. Motivation of couples through media and health personnel can help to achieve positive attitude of husbands for effective use of contraceptives

Frequency of impaired oral glucose tolerance test in high risk pregnancies for gestational diabetes mellitus

To determine the frequency of impaired oral glucose tolerance test in high risk pregnancies for Gestational Diabetes Mellitus [GDM]. Cross-sectional study. The study was conducted in Obstetric Ward and outpatient department, at Baqai Hospital, Nazimabad and Fatima Hospital, Baqai Medical University, Karachi, from May to October 2005. A total of 50 high risk pregnancies for gestational diabetes mellitus were selected through outpatient department of obstetrics. Data was collected according to certain obstetric and non-obstetric risk factors for GDM as inclusion criteria through a designed proforma i.e. family history of diabetes, macrosomia [i.e, wt > 3.5 kg], abortions, grand multiparity, a sudden increase in weight [>1 kg/wk] during pregnancy, age > 35 years, early neonatal deaths/sudden IUDS, polyhydramnios, urogenital infections [vulvo-vaginal candidiasis and UTI], previous history of GDM, congenital abnormalities [with or without polyhydramnios] and multiple pregnancy. Oral glucose tolerance test was performed and analyzed according to American Diabetic Association criteria, 2004. The most frequent risk factors were family history of diabetes mellitus in 1st degree relative and large for dates babies in 18 patients. Similarly, high risk factors such as history of abortions and grand multiparity were present in 16 and 14 pregnant women respectively. Least common factors, which contributed for GDM, were polyhydramnios in 4 cases and perinatal mortality [due to congenital anomalies of foetus, intrauterine deaths or neonatal deaths] seen only in 5 cases. Overall impaired oral glucose tolerance test was found in 24%. Most patients had one [17%] or two risk factors commonly [23%]. Only 2% had shown five or more risk factors. Oral glucose tolerance test is a useful diagnostic tool to detect GDM in high risk pregnancies, depending upon the high frequency of number of risk factors in each individual

Drug induced hirsutism

Hirsutism is a symptom or sign, which may have more serious associations than cosmetic and psychological concern alone, such as adrenal hyperplasia and ovarian tumor, particularly if it develops well after puberty. Some medicines having androgenic activity may also cause this problem. Here, we present a case of a young unmarried girl who was given anabolic steroid for the treatment of dysmenorrhoea which resulted in hirsutism

Complete androgen insensitivity syndrome in AN X Y female

An 18 years old, unmarried girl, attending the Gynaecological outpatient department, with history of primary amenorrhea, presented an ultrasonography report which revealed absence of uterine contours in that patient. There was no history of cyclical pain. Patient had two step sisters, aged 13 and 10 [born of different father], out of whom the elder had started menstruating. On clinical examination, the height of the patient was 167.5 cm and she weighed 52 kg. She had welldeveloped breasts. Her pubic and axillary hairs were scanty. Patient was admitted for further investigations, which showed elevated serum gonadotrophins [FSH=21.9 miu/ml LH= 9:46 miu/ml] and testosterone levels [5.08 ng/ml]. The pelvic ultrasonography was repeated which showed absent uterus but gonads were present bilaterally. Barr bodies were absent on buccal smear examination and karyotyping revealed 46 XY chromosomes. Examination of the patient under anaesthesia was carried out which showed normal labia majora, minora and uretheral opening and a short vagina. Gonadectomy was performed and subjected to histopathological examination, histopathology report showed that the gonads were testicular tissue. Patient's postoperative period was uneventful. She was advised to use vaginal dilators to increase the length of vagina. Hormone replacement therapy was prescribed to prevent early osteoporosis. She attended OPD for regular follow-up, no complaint were reported by the patient during this period

Spectrum of pathological lesions in cystoscopic bladder biopsies: a clinicopathologic study

To determine the clinicopathologic characteristics and frequencies of different pathological lesions in cystoscopic bladder biopsies in patients with bladder diseases. Design: A single- institution based retrospective observational study. Place and Duration of Study: The study was conducted in the Department of Histopathology, Sindh Institute of Urology and Transplantation [SIUT], Karachi over a period of five years [December, 1996 to December, 2001]. Subjects and All patients, who presented to the urology clinic of SIUT between December 1996 and December 2001 with haematuria, dysuria, urgency and frequency and in whom a cystoscopy and bladder biopsy were performed to elucidate the nature of underlying pathology, were included in this study. A total of 784 patients were studied. Clinical and demographic data and pathological diagnoses were retrieved from the original surgical biopsy reports. Bladder biopsies were received in 10% buffered formalin, gross examination done and processed for paraffin embedding. Histologic sections were stained routinely with Hematoxylin and Eosin, PAS and PAS with diastase. Sections were examined under the light microscope to document the pathologic diagnosis. Of the total 784 patients, 577[73.6%] were males and 207 [26.4%] were females with an overall male to female ratio of 2.8:1. Age range was wide [4 to 86 years]. The spectrum of pathological lesions included tumours: 497 cases [63.7%], followed by acute and chronic non-specific inflammation: 86[11%], cystitis cystica and glandularis: 40 [5%], Tuberculosis: 17[2.16%], squamous metaplasia: 13[1.65%] and a number of other rare lesions. Among the tumours, transitional cell tumours [TCC] were most common [95.3%]. Tumours were more common in males than in females [male to female ratio: 5.3:1] and peaked in 4th through 7th decades. Pathologic staging was possible in 89.7% of the cases. A majority of these cases [62%] presented with superficial disease, while in 38% the disease was muscle-invasive when first diagnosed. Grading was possible in all except two cases, which contained only necrotic tissue. A vast preponderance of tumours [74.5%] were well-differentiated, while 25.5% belonged to poorly-differentiated category [Grade 3 and 4]. In a significant number of biopsies: 105 cases [13.4%], no significant pathology was noted. TCC is the most common lesion in cystoscopic bladder biopsies

Superficial bladder cancer PT1G3: management controversies

To evaluate and identify high risk patients having superficial bladder cancer and to assess the role of radical cystectomy as primary treatment modality. An eight-year retrospective analysis of bladder cancer patients presenting to SlUT was undertaken. After clinical evaluation and routine laboratory investigations, IVU, sonography, CT Scan/MRI, cystoscopy, histopathology, were performed when indicated. A follow-up cystoscopy was carried out at regular intervals [3-6 months] up to a maximum of 8years. Of the 550 [59.7%] patients diagnosed as urothelial tumours, 61/330 [18.4%] had pT1G3 disease, with a male to female ratio of 14:1. Most of the cases [81.7%] were between 41-70 years of age. Haematuria was the presenting symptom in every case, followed by frequency 82.4%, dysuria 32.7% and clot retention 32.7%. There was no significant occupational association, however 25 [40.9%] were smokers for over 25 years. Filling defect on IVU was seen in 52 [85.2%] cases whereas Sonogram revealed echogenic masses in 44 [72.4%]. The morphological site, as per CT scan and cystoscopy was 72.1% lateral wall, 6.6% dome, 3.3% base and 18% were multicentric disease. Growth less than 1 cm was seen in 27%, 1.5 cm in 41% while greater than 5 cm in 32% of cases, All patients underwent endoscopic resection. Intravesical Mitomycin C was given to 27 and BCG to 15 cases. Of the high risk patients, 12 were primarily treated by radiation therapy whereas 22 underwent primary radical cystectomy and 16 had a salvage cystectomy and ileal conduit. Recurrence of the carcinoma was seen in 12 patients who had received intravesical chemo/immunotherapy, in 8 treated initially with radiotherapy and 8 subjected to radical cystectomy. The management of pT1G3 is still a controversial area of carcinoma bladder treatment. In view of the high cost of therapy, fast progression, high recurrence rate and metastasis, we in our setup recommend an early radical surgery in pT1G3 disease. This not only eliminates the lesion but is also cost effective

ESWL monotherapy of renal calculi

To study efficacy of extracorporeal shock wave lithotripsy [ESWL] monotherapy for renal calculi. Three hundred patients with renal stones less than 3.5 cm in diameter were selected. All were treated in supine position. Dornier HM4 machine was used for the study. JJ stent was placed in cases with complex and larger than 2.5cm size stones. Pregnant women and patients with pacemaker were excluded from the study. ESWL monotherapy was performed on three hundred patients and three hundred sixteen renal units between Jan. 98 and Dec. 98. Almost 50% of the stones were larger than 2 cm. Post ESWL complications were seen in 49 [16.2%] of the cases. Overall success rate of ESWL was 98.8%. Extracorporeal shock wave lithotripsy is a preferable treatment option for small and medium sized stones. Prophylactic JJ stenting helped in treating patients from far off areas. Complex renal calculi with low stone bulk could be treated with lithotripsy with JJ stent in situ

Prevalence of genitourinary tuberculosis

The purpose of study was to diagnose and treat genitourinary tuberculosis in the Pakistani population and to save the organs before they were irreversibly damaged. Patient and methods: A total number of 45 cases were included in the two year study. All the cases were treated as out patients unless some surgery was required. Diagnosis was based on positive urine cultures for tuberculosis, typical histological findings or both. In few cases diagnosis was presumptive and subject to response to empirically given anti-tuberculosis therapy, was diagnostic. Chemotherapy was given for 6 months. Of the forty five cases 29 were males and 16 females. The commonest clinical presentation were non-specific bladder symptoms. Low grade pyrexia was not very common. Pyuria was present in 78% of cases, and of these 49% had sterile pyuria. In 47% urine stain for AFB was possible while urine culture for AFB was positive in 38% cases. Genitourinary tuberculosis should be suspected in presence of sterile pyuria, chronic cystitis, epididymitis, haemospermia and chronic discharging scrotal sinuses

Methods of ureteric stent placement and removal: experience with 200 patients

Objective To study the advantages of ureteric stents in management of ureteric obstruction, injury or surgery. Methods Ureteric stents were inserted in 200 patients by endoscopic, percutaneous or open operation approach. Local anaesthesia, sedoanalgesia and general anaesthesia was used according to requirement of the patient. Removal of the stens was also endoscopic or in complicated cases by exploration. Results Ureteric stents were placed endoscopically in 190, by open operation in 6 and percutaneous approach in 4 cases. Conclusion Ureteral stent for managing ureteral injury is a safe and simple procedure in modern urology practice. Local anaesthesia was used in 143, analgesia in 31 and general anaesthesia in 26 patients. Endoscopic removal of stents was possible in 177 cases whereas 23 patients had to undergo open surgery due to fractured or upward migrated stents. Local anaesthesia was used in 150 analgesia in 21 and general anaesthesia in 29 cases