49, XXXXY syndrome: An infant presenting with ambiguous genitalia

Presences of normal genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. Several genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on the development process of normal male genital system. The addition of X chromosomes to the 46, XY karyotype results in seminiferous tubules dysgenesis, hypogonadism, and malformed genitalia. We report an infant male with 49, XXXXY syndrome presenting with ambiguous genitalia and multiple extra-gonadal anomalies

Supine percutaneous nephrolithotomy in children

Introduction: The stone disease in children shows wide geographic variations, and its incidence has increased worldwide in children of all ages. Percutaneous nephrolithotomy (PCNL) has gradually emerged as one of the standard treatment options for the management of renal stones >1.5 cm in pediatric cases. PCNL just like in adults has been performed in the prone position. Of late observing the successful use of supine position for PCNL in adults, pediatric urologists have been encouraged to use the supine access for PCNL in children. We report our early experience with supine PCNL in children. Materials and Methods: All children with symptomatic renal stones presenting to the pediatric urological services of our hospital were prospectively included into the study to undergo supine PCNL. Children with skeletal anomalies, bleeding diathesis, and active urinary tract infection were excluded from the study. Results: Ten children (six males and four females) with a mean age of 11.48 ± 2.08 years (9–18 years) underwent supine PCNL. The mean size of the stone was 22 mm (range 17–47 mm). The initial stone-free rate was 90% immediately after a single PCNL session. One child needed an additional extracorporeal shockwave lithotripsy session to clear a 7-mm fragment. The average operative time (from the beginning of the puncture trial to nephrostomy tube insertion) was 70 ± 5 min. Conclusions: Supine PCNL in children is feasible, safe, and an effective means for management of renal stones in the pediatric population

A Giant Hydronephrosis Mistakenly Diagnosed as Ovarian Tumor in a Pregnant Woman

We report a case of giant hydronephrosis that was wrongly diagnosed as an ovarian cyst and explored in a pregnant woman. Giant hydronephrosis are uncommon and need to be kept in mind as a differential diagnosis while making a clinical diagnosis

Long Term Outcome of Patients with Penile Fracture Undergoing Delayed Repair

Introduction: Fracture of the penis is a rare urological emergency which occurs as a result of abrupt trauma to an erect penis. Immediate surgical repair is the standard of care and is superior to nonoperative management due to excellent long term outcomes. A large percentage of the patients present late for treatment out of fear or embarrassment. We report our series of patients who presented&nbsp;&nbsp; late and underwent delayed repair. We also report the long term outcome in these patients.Materials &amp; Methods: The data was retrospectively collected from hospital records, which included: detailed history, symptoms, type of relationship, mechanism of trauma, sexual position, clinical fi ndings at physical examination, imaging results, presence of urethral injury, outcomes, and long-term complications regarding sexual and voiding functions.Results: Twenty two patients presented to our hospital casualty/emergency services following penile fracture and underwent delayed surgical repair. Heterosexual inter- course was the most common cause&nbsp; of fracture (18 patients, 81.81%). The mean time duration between injury and presentation was 48.77±33.56 hours. The mean time duration between presentation and surgical intervention was&nbsp; 4.31±1.37 hours. MRI was done in 6 cases with positive predictive value of 100%. Seventeen (77.27%)&nbsp; patients experienced erections during the post-operative period in the hospital. At the end of 1 year&nbsp; follow-up all the 22 patients had been having sexual intercourse. Conclusions: Our data suggests that, patients with penile fractures undergoing delayed repair have preservation of erectile potency and overall&nbsp; sexual function is maintained.</p

The feasibility of task-sharing the identification, emergency treatment, and referral for women with pre-eclampsia by community health workers in India

Background: Hypertensive disorders are the second highest direct obstetric cause of maternal death after haemorrhage, accounting for 14% of maternal deaths globally. Pregnancy hypertension contributes to maternal deaths, particularly in low- and middle-income countries, due to a scarcity of doctors providing evidence-based emergency obstetric care. Task-sharing some obstetric responsibilities may help to reduce the mortality rates. This study was conducted to assess acceptability by the community and other healthcare providers, for task-sharing by community health workers (CHW) in the identification and initial care in hypertensive disorders in pregnancy. Methods: This study was conducted in two districts of Karnataka state in south India. A total of 14 focus group discussions were convened with various community representatives: women of reproductive age (N = 6), male decision-makers (N = 2), female decision-makers (N = 3), and community leaders (N = 3). One-to-one interviews were held with medical officers (N = 2), private healthcare OBGYN specialists (N = 2), senior health administrators (N = 2), Taluka (county) health officers (N = 2), and obstetricians (N = 4). All data collection was facilitated by local researchers familiar with the setting and language. Data were subsequently transcribed, translated and analysed thematically using NVivo 10 software. Results: There was strong community support for home visits by CHW to measure the blood pressure of pregnant women; however, respondents were concerned about their knowledge, training and effectiveness. The treatment with oral antihypertensive agents and magnesium sulphate in emergencies was accepted by community representatives but medical practitioners and health administrators had reservations, and insisted on emergency transport to a higher facility. The most important barriers for task-sharing were concerns regarding insufficient training, limited availability of medications, the questionable validity of blood pressure devices, and the ability of CHW to correctly diagnose and intervene in cases of hypertensive disorders of pregnancy. Conclusion: Task-sharing to community-based health workers has potential to facilitate early diagnosis of the hypertensive disorders of pregnancy and assist in the provision of emergency care. We identified some facilitators and barriers for successful task-sharing of emergency obstetric care aimed at reducing mortality and morbidity due to hypertensive disorders of pregnancy.Medicine, Faculty ofOther UBCNon UBCObstetrics and Gynaecology, Department ofReviewedFacult