Translation and validation of Bristol Female lower urinary tract symptoms (BFLUTS) questionnaire for Nepali speaking women.

TITLE: Translation and validation of Bristol Female lower urinary tract symptoms (BFLUTS) questionnaire for Nepali speaking women Introduction: Bristol female lower urinary tract symptoms questionnaire (BFLUTS) was designed to identify the lower urinary tract symptoms (LUTS) in women. It aids in determining the severity of lower urinary tract symptoms and how they affect sexual function and quality of life.It can be employed in research and therapeutic practice. It is not available in Nepali version. As a result, our goal is to translate and validate the BFLUTS questionnaire in Nepali. METHODS: The BFLUTS questionnaire has been translated into Nepali. From March 1, 2020 to February 28, 2021, 225 Nepalese patients with lower urinary tract symptoms were evaluated using a Nepali version of the BFLUTS questionnaire adapted from the English version. Internal consistency, test-retest reliability, validity, and change responsiveness were all assessed. RESULTS: A total of 225   patients were enrolled in the study. The missing data was less than 2%. The Nepali version of the BFLUTS questionnaire showed good reliability (? = 0.76; ICC= 0.934). Test-retest reliability was assessed with weighted kappa (?) ranging from 0.71 to 0.83.It showed good sensitive to change before and after the treatment. Mean BFLUTS scores correlated strongly with the symptomsof lower urinary tract symptoms reported in the bladder diary with ? ranging from 0.689to 0.859. CONCLUSIONS: The Nepali version of BFLUTS questionnaire is a reliable, valid and consistent for measuring lower urinary tract symptoms and their effect on sexual function and quality of life.

Multimodality treatment of a primary vulvar melanoma in a low resource setting: A case report.

Primary vulvar melanoma is a rare but highly aggressive malignant neoplasm accounting for 1-2 % of all malignant melanoma and 5-10 % of all vulvar cancers in females. Here we report a case of 32 years old female diagnosed with primary vulvar melanoma during the evaluation of a two cm growth in the inner labia minora on the right side. She underwent wide local excision with excision of the distal one cm of the urethra and bilateral groin node dissection. The final histopathology was vulvar malignant melanoma with 1 out of 15 groin nodes involved but all resected margins were free of tumor. The final surgical stage was T4bN1aM0 (8th AJCC TNM) and IIIC (FIGO). She received adjuvant radiotherapy followed by 17 cycles of Pembrolizumab. To date, she is both clinically and radiologically disease free with a progression-free survival of 9 months.

Vulval Aggressive Angiomyxoma in a 19 year teenager: a case report.

BACKGROUND: Aggressive Angiomyxoma is a benign, slowly growing, locally aggressive and recurrent tumour that occurs in the pelvic-perineal region of females in their reproductive years. It presents as a painless, soft, gelatinous mass and metastasizes rarely. Suspicion can be made based on clinical examination and radiological imaging but final diagnosis is confirmed only after histopathology and immunohistochemistry. The choice of treatment is surgical wide local excision. CASE PRESENTATION: We hereby present a case of a 19-year, unmarried lady, with a body mass index of 21 kg/m2, who presented with a chief complaint of painless mass in left vulva which progressively increased in size in the past one year. Clinical examination revealed a large, cauliflower like, exophytic mass of 10 cm × 10 cm size. Radiological imaging confirmed involvement of lymph nodes. Wide local excision with adequate tumour free margin and depth was used as a treatment modality. The diagnosis was confirmed via histopathological examination of the excised specimen. There is no recurrence in the patient up to date. CONCLUSION: Aggressive Angiomyxoma is a rare tumour and it is most often misdiagnosed. This report highlights the importance of considering Aggressive Angiomyxoma as a differential diagnosis of vulval masses and the two-step surgical approach for its treatment in low resource setting.

Imperforate Hymen: A Rare Cause of Abdominopelvic Mass in an Infant.

Symptomatic imperforate hymen is very rare in infants. Here we report a neonate who presented with imperforate hymen with abdominal distension, fever and loose stool. Imaging study showed large thick walled cystic lesion extending from pelvis to abdomen upto epigastric region with bilateral mild hydroureteronephrosis and lower part in between urinary bladder and rectum suggesting hydrometrocolpos. There was spontaneous rupture leading to flow of collection. It leads to spontaneous resolution of the mass which was confirmed with pelvic ultrasound and computed tomography. Keywords: Hydrometrocolpos; hydroureteronephrosis; imperforate hymen.

Look Beyond Gluten in Short Stature with Celiac Disease - A Prospective, Interventional Study.

OBJECTIVE: Short stature (SS) is a common manifestation of celiac disease (CD). After starting gluten free diet (GFD), children usually have catch-up growth (improvement in height SDS of >1 SD). However, few children in remission, even on GFD, lack catch up growth. This study was planned to assess the growth hormone (GH) axis and the prevalence of anti-pituitary antibodies in such patients. METHODS: It was a single-centre, prospective study. Patients with CD in remission for the last 1 y, having SS and lacking catch-up growth, were included after excluding other common causes of SS. GH dynamics were studied using stimulation tests: Insulin tolerance test, clonidine stimulation test, and glucagon stimulation test. GH deficiency (GHD) was defined as non-stimulable response to 2 GH stimulation tests. Anti-pituitary antibodies were analysed in these patients using rat pituitary extract as antigen. RESULTS: Ten patients (8 girls), with a mean age of 10 ± 2.8 y, in serological remission for CD and lacking catch-up growth, were enrolled. All had a height SDS of < -2. Fifteen age matched children with CD and adequate catch up growth served as controls. GHD was seen in 7 patients (70%), out of whom 2 received GH therapy and had an improvement in the height SDS from -2.7 to -1.4 and from -2.1 to 2.4 (over 1 y), respectively. Anti-pituitary antibodies were seen in significant titres in 55.5% of the cases and 40% of the controls. CONCLUSIONS: Children with CD in remission but lacking catch-up growth should be evaluated for GHD.

Maternal and Perinatal Outcomes of Singleton Term Breech Vaginal Delivery at a Tertiary Care Center in Nepal: A Retrospective Analysis.

BACKGROUND: Breech presentation is associated with increased rates of maternal and perinatal morbidity regardless of mode of delivery. After the results of Term Breech Trial, most of the countries adopted the protocol of cesarean section for term breech delivery because of which breech vaginal delivery is becoming rare. The aim of this study is to evaluate short-term maternal and perinatal outcomes of breech vaginal delivery at a tertiary care hospital in Nepal. METHODS: A retrospective review of case records of all women who had vaginal breech delivery from April 13, 2016, to April 12, 2018, was conducted, over a period of two years. Available demographic variables, obstetric characteristics, details of labor, postpartum complications, and perinatal complications were recorded and analyzed. RESULTS: Out of 21,768 cases of deliveries during the study period, the incidence of term breech deliveries was 528 (2.4%) among which the mode of only 84 (17.8%) deliveries was vaginal. Most of the deliveries were unplanned and were conducted because emergency cesarean section could not be performed. Three (3.6%) women had postpartum hemorrhage, and four (4.8%) had entrapment of aftercoming head, two of them requiring Dührssen incisions. Adverse perinatal outcomes were seen in 23.8% of such deliveries with <7 APGAR score at 5 minutes in 20.2%, neonatal admission in 17.7%, and perinatal mortality in 8.3%. The perinatal mortality was significantly associated with birthweight less than 2500 grams as compared to birthweight ≥2500 grams (21.1% versus 4.6%; P=0.043). CONCLUSION: The perinatal outcomes for vaginal breech delivery are grave with our existing health facilities, especially when the deliveries are not well planned.

Gartner's Duct Cyst of the Vagina: A Case Report.

Paramesonephric duct or Mullerian ducts forms female genital organs whereas mesonephric duct forms male genital organs. The remnant of the mesonephric duct or Wolffian duct in females sometimes forms a mesonephric cyst or Gartner's duct cyst. They are usually asymptomatic and <2 cm but sometimes can be bigger. It is diagnosed with pelvic examination. It is treated with surgical excision of the cyst. This is a unique case in urogynecology as it confuses with pelvic organ prolapse and the mode of treatment is completely different. We report a case of 32-years old lady who presented in urogynecology outpatient department with complain of pelvic organ prolapse. After examination she was diagnosed as vaginal cyst and excision was done and confirmed as Gartners cyst in histopathological examination.

Prevalence of Hemolysis, Elevated Liver Enzymes, Low Platelet Count Syndrome in Pregnant Women in a Tertiary Care Hospital.

INTRODUCTION: Hemolysis, Elevated Liver Enzymes, Low Platelet count syndrome refers to biological syndrome occurring in pre-eclamptic and eclamptic women. There is a higher rate of maternal and perinatal morbidity and mortality due to the syndrome. So, the objective of the study is to find the prevalence and maternal- perinatal outcome in the syndrome. METHODS: A descriptive cross-sectional study was done in a tertiary care hospital from 1st April 2017 to 30th March 2018 after obtaining ethical clearance from the Institutional Review Committee. The inclusion criteria were patients giving consent for participation and those who delivered in our hospital. Patient with the syndrome who delivered outside and referred in the postpartum period was excluded because details of the neonate may not be available. The Statistical Package for Social Sciences version 21 was used for the analysis of the data. Point estimate at 95% Confidence Interval was calculated along with frequency and proportion for binary data. RESULTS: Out of 11974 deliveries, the prevalence of Hemolysis, Elevated Liver Enzymes, Low Platelet count syndrome was 83 (0.69%) at 95% Confidence Interval (59.06-78.94). Maternal complications were seen in 19 (22.9%) and common complications being acute renal failure 9 (47.37%) followed by postpartum hemorrhage 4 (21.05%). Nearly 27 (33%) of patients required maternal ICU stay and there was one maternal mortality. CONCLUSIONS: Hemolysis, Elevated Liver Enzymes, Low Platelet count syndrome is one of the major causes of maternal and perinatal morbidity and mortality. Hence early recognition and prompt management may improve maternal and fetal outcomes.

Corrigendum to "Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for the Study of Liver (INASL), The Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition (ISPGHAN) and the Movement Disorders Society of India (MDSI)" [J Clin Exp Hepatol 9 (2019) 74-98].

[This corrects the article DOI: 10.1016/j.jceh.2018.08.009.].

Prevalence of Hysterectomy among Gynecological Surgeries in a Tertiary Care Hospital.

INTRODUCTION: Hysterectomy is the most common gynecological procedure. Over the last decade, the minimally invasive approach has been practiced more frequently. Fibroid uterus being the most common indication for hysterectomy justifies this minimal approach, however, whenever feasible, vaginal hysterectomy can be the preferred route. The objective of this study was to find out the prevalence and indication of hysterectomy among major gynecological surgeries in a tertiary care hospital. METHODS: A descriptive cross-sectional study was done at a tertiary care hospital among 1912 patients who had major gynecological surgeries from January 2017 to December 2019. Ethical clearance was obtained from the institutional review committee (ref. no. ACD 935/076/077). Convenient sampling was used. Statistical analysis was done using Statistical Package for Social Sciences version 21.0. Point estimate at 95% Confidence Interval was calculated along with frequency and proportion for binary data. RESULTS: During the study period, there were 1,912 major gynecological surgeries and the prevalence of hysterectomy was 1,131 (59.15%) (56.94-61.35 at 95% Confidence Interval). Fibroid uterus was the most common clinical indication for hysterectomy which was done in 397 (35.10%) patients, followed by uterovaginal prolapse in 254 (22.46) patients, adnexal mass in 210 (18.56%), and abnormal uterine bleeding in 117 (10.34%) patients. CONCLUSIONS: Hysterectomy, being the most common gynecological surgery, selection of the most appropriate route is of paramount importance. As for any other surgery, it is not without complication and hysterectomy should always be justified. With the advancement in the conservative approaches, these organ-preserving options should be explored rigorously before opting for hysterectomy.

Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.

Backgrounds and Aims: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by a defect or deficiency of bile salt export protein (BSEP) due to mutation in the ABCB11 gene. We intend to evaluate the phenotype-genotype correlation in 10 diagnosed cases of PFIC2 in a single tertiary care center in North India. Methods: The clinical, biochemical, histopathological, immunohistochemical, ultrastructural and genetic data of the 10 diagnosed cases of PFIC2 were recorded. Results: Icterus, pruritus and bleeding manifestations were the commonest clinical symptoms. Giant cell transformation was seen in 50% of the patients. Two predominant genetic variants were ABCB11 missense p.Val444Ala (c. 1331 T > C) and ABCB11 missense p.Asn591Ser (c. 1772 A > G) in their homozygous or compound heterozygous states and were associated with retained BSEP immunopositivity and reduced but retained BSEP immunopositivity respectively. Conclusion: Retention of BSEP is common in North Indian children of PFIC2 with no phenotype-genotype correlation.

Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India.

Clinical practice guidelines for Wilson's disease (WD) have been published by the American Association for the Study of Liver Diseases and European Association for the Study of the Liver in 2008 and 2012, respectively. Their focus was on the hepatic aspects of the disease. Recently, a position paper on pediatric WD was published by the European Society of Pediatric Gastroenterology Hepatology and Nutrition. A need was felt to harmonize guidelines for the hepatic, pediatric, and neurological aspects of the disease and contextualize them to the resource-constrained settings. Therefore, experts from national societies from India representing 3 disciplines, hepatology (Indian National Association for Study of the Liver), pediatric hepatology (Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition), and neurology (Movement Disorders Society of India) got together to evolve fresh guidelines. A literature search on retrospective and prospective studies of WD using MEDLINE (PubMed) was performed. Members voted on each recommendation, using the nominal voting technique. The Grades of Recommendation, Assessment, Development and Evaluation system was used to determine the quality of evidence. Questions related to diagnostic tests, scoring system, and its modification to a version suitable for resource-constrained settings were posed. While ceruloplasmin and 24-h urine copper continue to be important, there is little role of serum copper and penicillamine challenge test in the diagnostic algorithm. A new scoring system - Modified Leipzig score has been suggested with extra points being added for family history and serum ceruloplasmin lower than 5 mg/dl. Liver dry copper estimation and penicillamine challenge test have been removed from the scoring system. Differences in pharmacological approach to neurological and hepatic disease and global monitoring scales have been included. Rising bilirubin and worsening encephalopathy are suggested as indicators predicting need for liver transplant but need to be validated. The clinical practice guidelines provide recommendations for a comprehensive management of WD which will be of value to all specialties.

Adverse Maternal and Fetal Outcome in Patients with Eclampsia.

BACKGROUND: Eclampsia is a multisystem disorder that may lead to deterioration of maternal condition, hypoxia and acidosis of fetus. Objective was to evaluate the risk factors associated with adverse maternal and fetal outcome in patients with eclampsia. METHODS: All patients with eclampsia were enrolled after informed consent from February 2013 to February 2014. Questions as per per-forma were asked to the patients and attendants about antenatal visits, parity, number of episodes of seizures, duration from onset of seizure to magnesium sulfate, then the patients were followed as per the hospital protocol, the mode of delivery, outcome of baby, post partum maternal condition and mortality were then noted. RESULTS: Fifty-two patients with eclampsia were admitted in the study period. Thirty-one patients required mechanical ventilator support. Twenty-five (48.07%) patients were delivered by emergency cesarean section and 30(57.6%) babies were low birth weight and there were 11(21.1%) stillbirths. There was one maternal mortality and 45(86.5%) patients were discharged with improvement but 6(11.5%) patients had neurological impairment. Mortality was significantly related with number of seizure episodes and time interval between seizure onset and administration of magnesium sulphate. CONCLUSIONS: Early detection of hypertension and management with magnesium sulphate for eclampsia can help to minimize the maternal and fetal adverse outcomes.

Kawasaki Disease Presenting as Acute Intestinal Obstruction.

Kawasaki disease (KD) is an acute febrile illness of childhood associated with vasculitis of medium-sized arteries especially the coronary arteries. Typical clinical features involving the skin, mucous surfaces, etc., occur sequentially over a few days. We report a rare presentation of KD as a surgical abdomen in a 2-year-old boy. Awareness of this presentation is important as it can otherwise lead to a delay in starting potentially life-saving intervention like intravenous immunoglobulins for cardiac complications kept cryptic by the manifest acute abdomen.

A molecular marker of disease activity in autoimmune liver diseases with histopathological correlation; FoXp3/RORγt ratio.

Autoimmune liver diseases (AILDs) encompass a group of diseases with variable clinicopathological manifestations. Th17 and Treg cells have roles in the pathogenesis of AILDs with a balance shifted towards a relative increase in activity of the Th17 cells. In this study, the balance between the transcription factors of Treg and Th17 cells (FoXp3 and RORγt) was sought as a molecular marker of disease activity and to highlight the pathogenesis. The peripheral blood samples of 46 treatment-naive patients were collected and RNA was extracted. Real time PCR was performed and the ratio of gene expression was calculated. Histopathology of 18 patients was obtained and the activity score of these biopsies were also corroborated with their respective molecular (FoXp3/RORγt) (FRGT=FoXp3-ROR Gamma T) ratio. The FRGT ratio in healthy individuals was close to 1 and in disease the ratio changed significantly. This ratio (FRGT) was not significantly different in different varieties of AILD or in adult or paediatric form of the disease. However, the ratio remained consistently below 1 (mean 0.3) in acute disease and high (mean 224.7) in chronic or asymptomatic form of the disease (p < 0.001). The histopathological activity score also significantly correlated with the ratio. This signified the relative excess of Th17 (RORγt) in active disease as compared to Treg (FoXp3) and the reverse in chronic form. This ratio can be an important peripheral molecular marker to assess the disease activity without the necessity of performing a liver biopsy.

Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.

The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity. A total of 33 WD patients and their family members from North West states of India were examined. The H1069Q, R778W and R778L mutations were absent in these WD patients. R778W and I1102T mutations were present in 36% of WD patients. Family analysis for these mutations using PCR-RFLP documented 5 carriers and 2 asymptomatic WD patients. The copper ATPase activity in WD patients was significantly reduced (50%) than that of control individuals. No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients. Serum ceruloplasmin, serum copper levels were significantly lower in homozygous WD patients than that of compound heterozygous. However, no significant difference was observed in liver copper contents between heterozygous and homozygous patients. In conclusion, the data suggest that R778W and I1102T are most common mutations and provide the basis of genetic (PCR-RFLP) diagnostic tool for Indian WD patients as well as in siblings/parents where biochemical parameters are ambiguous.