Labial synechiae: a diagnostic conundrum.

The purpose of this study was to shed some light on labial synechiae, which is a common yet unfamiliar condition seen initially by the family physician and ultimately by the paediatric urologist. It is often diagnosed incorrectly, leading to undue anxiety and stress for the unsuspecting parents, and results in multiple unnecessary lab investigations, hence, putting a burden on the healthcare system in general. After IRB approval, a retrospective chart review was performed over a period of 15 years (2007-2021), at The Indus Hospital, Karachi, Pakistan. The records of all female children who underwent examination under anaesthesia (EUA) for labial synechiae (n=29) were included in the study. Our results indicate that the primary healthcare physicians were unable to recognise labial adhesions at the time of initial presentation. We conclude that labial synechiae is a benign condition affecting female infants, but is not very well understood by healthcare workers in our part of the world.

Access and Fluoroscopy Time Difference in Patients Undergoing Prone Percutaneous Nephrolithotomy (PCNL) With Ureteric Catheter Placement in Supine Versus Lithotomy Position.

OBJECTIVE: To compare the operative and fluoroscopy time in two different methods of ureteral stent insertion before prone percutaneous nephrolithotomy (PCNL). MATERIALS AND METHOD: Over 12 months, 124 patients with urolithiasis who went through prone PCNL were included in our study. All the patients had kidney stones and were divided into two groups based on the method of ureteral catheter insertion. This was done with the help of flexible or rigid cystoscopy in to group A and group B, respectively. Both groups had an equal number of patients, i.e., 62. The main outcome variables assessed were access time (from intubation to placement of access sheath) and fluoroscopy time during access. RESULTS: The categorical variables (age, gender, site of the stone) between the two groups were comparable. The access time in groups A and B were 48±4.30 and 77±10 minutes, respectively. The fluoroscopy times in groups A and B were 52±14.63 and 116±47.77 seconds, respectively. A statistically significant difference (p-value < 0.05) was observed for both the access and fluoroscopy time. None of the patients in either of the groups had a misplaced ureteral catheter requiring repositioning. CONCLUSION: Flexible cystoscope-assisted insertion of ureteral catheter prior to PCNL significantly reduces operative time, fluoroscopy time, and consequently radiation exposure during PCNL.

Post-traumatic Renal Arteriovenous Malformation Discovered after 2 Years of Blunt Trauma: Diagnosis and Management.

Blunt trauma to the kidney is usually minor and self-limiting. In some cases, the patient may present with intractable hematuria or persistent flank pain and discomfort, which necessitates aggressive management. It is very rare and unusual to find a renal arterio-venous malformation following blunt trauma. This unusual presentation should be kept in mind when a patient presents with hematuria and history of blunt abdominal trauma. We report the case of a young male who suffered blunt abdominal trauma two years back, and continued to have on-and-off hematuria. After extensive work up, a diagnosis of renal arterio-venous malformation was made. His case was managed promptly with renal angio-embolization. Key Words: Blunt trauma, Arterio-venous malformation (AVM), Angio-embolisation, kidney.

A Rare Case of Anti-HMGCR and Anti-SRP-Positive Immune-Mediated Necrotizing Myopathy.

Immune-mediated necrotizing myopathy (IMNM) or necrotizing autoimmune myopathy includes a set of distinct disorders associated with marked myasthenia, myofiber necrosis, and high creatine kinase levels. Anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (anti-HMGCR) and anti-signal recognition particle (anti-SRP) are the two main autoantibodies associated with IMNM. Anti-HMGCR is usually associated with statin use. However, it may also be discovered in children without previous statin exposure, suggesting the existence of a complex genetic-environmental relationship in disease pathogenesis. Anti-SRP IMNM tends to present with more severe disease distinguished by pronounced myasthenia, worse neurologic outcomes, and treatment refractoriness. Its pathogenesis is also unknown; however, preliminary data suggest an antibody-complement-mediated mechanism of muscle cell lysis. Herein, we present the case of a 63-year-old man diagnosed with anti-HMGCR- and anti-SRP-positive IMNM that was treated with multiple immunosuppressants resulting in clinical improvement.

Primary synchronous malignancies of the breast and the kidney.

Synchronous primary malignancies are most frequently seen with cancers of the stomach and oesophagus, mainly attributed to the similar genetic mutations. Most of these multiple malignancies turn out to be metastatic or metachronous lesions. Multiple synchronous malignancies are rarer than metachronous ones. Primary synchronous breast and renal cancer is even rare. These patients require extensive workup to exclude all possible metastases. The nature of the primary tumours must also be confirmed, prior to any treatment strategy. We report the case of a healthy, middle-aged woman who initially presented with a lesion suspicious for breast carcinoma, and further workup revealed the presence of an asymptomatic, synchronous primary renal cell cancer, which is a very rare presentation.

Analysis of 114 Pedigrees of Renal Stone Patients: A Retrospective Review.

BACKGROUND:  Renal and ureteric stones (RS) can form due to genetic, metabolic, environmental, and diet-hydration related factors. Studies have shown that patients with family history (FH) of RS have higher likelihood of recurrence. MATERIALS AND METHODS:  We conducted a retrospective cross-sectional study on 114 pedigrees to investigate the impact of FH on recurrence of RS and examine patterns of inheritance.  Results: Family history of renal stone disease was found in 42% of all patients. There was a significant increase of stone recurrence in RS patients with a positive FH (p=0.001). Seventy-one percent of patients with recurrent stones had at least one family member with RS. Interestingly, male penetrance was higher in RS recurrence, where a greater proportion of males had no FH of RS, indicating that there may be other factors involved as well.  Conclusion: Family history in RS patients should be continuously explored for the possible underlying genetic influence, whilst keeping in mind the dietary habits of the family.

The Effect of Ureteric Stenting on Female Sexual Function: A Prospective Cohort Study.

Background and objective Urolithiasis is a highly prevalent disease worldwide, with Pakistan belonging to the stone belt of Asia. The usage of the double J (DJ) stent is highly effective when it comes to the management of urolithiasis. However, studies investigating the side effects of DJ stent placement on sexual function in individuals are scarce. In this study, we aimed to assess the impact of DJ stent placement on sexual function in women. Methods After obtaining ethical approval, a prospective study was conducted at a university hospital from June 2018 to September 2019. All sexually active women requiring semi-rigid ureteroscopy (URS) or flexible URS [retrograde intrarenal surgery (RIRS)] were enrolled. Women with DJ stent placement (Group A) were compared to women who did not require DJ stent (Group B). The outcome variable was to assess temporary sexual dysfunction after DJ stent placement using the standardized Female Sexual Functionality Index (FSFI) in English or its validated vernacular version. The FSFI was completed at four weeks, and again at three months, following URS/RIRS. Results Of the 106 sexually active women initially included in the study, 69 were found to be eligible for final analysis. In Group A, the mean FSFI score at the initial presentation was 31.54 ±4.37. The mean FSFI score at four weeks was lower compared to the baseline score (0 time): 13.96 ±5.5 (p<0.05). At three months, the mean FSFI score returned to near baseline at 32.053 ±5.35 with no significant difference (p=0.65). In comparison to women in Group B, the mean FSFI score at four weeks was significantly lower in Group A (28.87 ±6.59 vs. 13.96 ±5.49; p<0.05). However, there was no significant difference between the mean FSFI scores at any of the three time points within Group B. Conclusion DJ stent insertion results in transient postoperative sexual dysfunction in women, which resolves spontaneously within a span of three months after stent removal.

The Hidden Work of Urology Residents - A Cross-Sectional Study.

BACKGROUND: In a tertiary care hospital that caters to all kinds of patients in the clinical and emergency setting, consultation is an important service provided by the urology team. Profiling the spectrum of urologic disease encountered by trainees will assist in the planning of residency curricula and is bound to improve patient outcome for procedural education. METHODS: All urologic consultation requests received over a period of three months (November 22, 2019, to February 22, 2020) were identified and recorded in a prospectively maintained consult log. Information collected for each encounter included the time, date, reason for consult, primary service and diagnosis along with the final urologic diagnosis, any urologic intervention, and basic patient demographics (gender and age). RESULTS: Over three months, a total of 568 consult requests were reviewed. Of the patients consulted for, 74% were males; the mean age was 58.45 years (SD+/-19.5 years). The most common service seeking urology consult was the Emergency Room (n=240, 42.25%). The most common reason for consultation was hematuria (n=103, 18.13%) followed by obstructive uropathy (n=98, 17.25%). The majority (n=147, 26%) of the calls were placed between mid-day and 4 pm. Of the total, 26% required immediate attention. Urologic intervention was required in 226 (39.8%). The number of consults seen by junior team members was 478 (84.14%). CONCLUSION: Hematuria and obstructive uropathy are the most common reasons for urologic consultation requests. Nearly two-thirds of the consults either required immediate attention or intervention. Most of the consults were seen by junior residents, who required elaborate training to address these common issues independently. We believe that our results will be helpful in developing a curriculum for training junior residents.

Snail Fever of the Bladder in a Non-endemic Area.

Schistosomiasis is rarely seen in Pakistan and is generally not very high on the list of differential diagnoses. However, it is an important cause of haematuria in certain endemic areas. It can affect multiple organs including the bladder, liver and lungs. We present a case of a young Pakistani male, travelling to and from Africa, who presented with complains of haematuria and suprapubic discomfort. Final pathologic diagnosis was urinary schistosomiasis (hematobium species). This case is particularly notable for the characteristic sago nodules identified on cystoscopy. It is important to consider schistosomiasis in the differential of haematuria in such scenarios as it confers significant morbidity if left untreated. Key Words: Schistosomiasis, Schistosoma hematobium, Haematuria, Urinary bladder.

Penile strangulation injury in children - Reconstructive procedure and outcome.

BACKGROUND: Penile strangulation injury (PSI) is rare and is usually reported in circumcised children. Damage to Corpus Spongiosum (encasing urethra) and Corpus Spongiosum by hidden constricting material (e.g. hair or thread) in penile groove can cause Urethral Fistula (UF) and near total glans amputation. We report varied grades of PSI in children with emphasis on surgical procedure and its outcome. PATIENTS AND METHODS: Fifteen children were treated from August 1991 to December 2018 for PSI inflicted by encircling hair (n = 4) and cotton or polyester thread (n = 11). Twelve patients with Grade 1 and 2 injury had a single stage reconstructive procedure. RESULTS: Age of patients ranged from 6 months to 11 years (mean 5.8 years). All the patients including two who have attained sexual maturity stated satisfactory outcomes, e.g., urinary stream on follow up (range: 1.1 to 13 years; mean 6.5 years). One patient developed urethrocutaneous fistula (UF) and had repair as a daycare procedure. CONCLUSION: One stage surgical repair is appropriate to manage varied damage to urethra and corpora associated with PSI. Immediate and long-term results are reasonable. LEVEL OF EVIDENCE: Level IV.

A rare case of NXP-2 positive dermatomyositis.

Dermatomyositis is an idiopathic inflammatory myopathy with variable cutaneous manifestations. Several autoantibodies each with distinct clinical phenotypes are associated with the disease. Here we present the case of a 36-year-old Laotian woman with hypothyroidism who presented with severe proximal and distal muscle weakness, dysphagia, diffuse rash, and anasarca that was diagnosed with NXP-2 (nuclear matrix protein 2) antibody positive dermatomyositis. The patient's hospitalization was complicated by disease resistant to conventional therapy.

Biological screening of three selected folklore medicinal plants from Pakistan.

This study investigates the pharmacological potential of Adiantum incisum, Alternanthera pungens and Trichodesma indicum. Biological activities of plant extracts (aqueous, methanolic and n-hexane extracts of whole plants) were screened by antitumor potato disc assay (10000, 1000, 100, 10 ppm doses), antifungal tube dilution assay (50, 25, 12.5, 6.25mg/ml) and antioxidant DPPH/reducing power assays (250, 200, 150, 100, 50µg/ml). Significant amount of alkaloids (230.83±30.20mg/g) in Adiantum incisum with lowest amount of phenolics in Alternanthera pungens (43.45 ±14.22µg/mg) were detected. Significant antitumor potential (p<0.05) was revealed by Trichodesma indicum n-hexane extract (85% tumor inhibition; IC50 <10ppm). Moderate to significant antifungal activity (50.73%-78.3%) was shown against Aspergillus niger by Adiantum incisum extracts. Hexane extract of Trichodesma indicum revealed significant antifungal activity (98.9% inhibition) against Mucor specie. Methanolic extracts of all plants displayed significant DPPH radical scavenging potential (96.72%-60.33%; IC50 <50µg/ml) and Ferric power reducing ability with absorbance values (0.164-0.942) very close to standard ascorbic acid. Present study supports the extensive use of these plants in folk medicine and also promotes elaborative in-vivo investigations, isolation of pure therapeutic compounds and formulation of plant-based drugs.

Fibrous Pseudotumor of Tunica Albuginea Testis Mimicking Testicular Neoplasm in a Young Man.

Intrascrotal lesions are common findings with a majority occurring in paratesticular tissue. Fibrous pseudotumors are rare, benign lesions of the testicular tunics and present with mass lesion(s) in the scrotum. Preoperative clinical and radiological diagnosis is challenging. We report a case of a 34-year-old man who presented with a 3-year history of left testicular swelling and was advised left radical orchidectomy by another surgeon. Physical examination revealed a firm, nontender mass attached to the lower pole of the testis. Testicular tumor markers were all negative, and ultrasound scan showed a relatively hypoechoic lesion closely associated with the left testis and suspicious for neoplastic process. The patient underwent a testicular sparing surgery. An intraoperative frozen section biopsy confirmed the lesion to be benign and this was reported on permanent section to be fibrous pseudotumor of the tunica albuginea. We also present the clinical, sonographic, and histopathological findings of this condition along with the literature review.

Atypical Presentation of Hydatid Cyst in the Thigh.

To emphasise that hydatid cyst disease can present as a soft tissue mass even in an unusual site like the thigh, we report the case of a 21-year male patient who presented to Surgical Unit IV, Civil Hospital, Karachi, with a slow growing cystic swelling on the medial aspect of the left thigh. Based on serology and imaging, a diagnosis of solitary subcutaneous hydatid cyst thigh was made and cystopericystectomy was performed. Histopathology confirmed the diagnosis. Up to three months postoperatively, there was no recurrence. In the absence of visceral organ involvement, this is the first reported case of primary subcutaneous hydatid disease of the thigh in Pakistan.

Genetic Polymorphism of GSTM1 and GSTT1 and Risk of Prostatic Carcinoma - a Meta-analysis of 7,281 Prostate Cancer Cases and 9,082 Healthy Controls.

Genetic polymorphisms constitute one of the reasons behind the racial variation in prostate cancer occurrence. Published studies regarding genetic associations of glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) null deletion polymorphisms with prostatic carcinoma have generated inconsistent results among different populations. To date, even a single meta-analysis is not available representing the association of these genes with prostate cancer in different ethnic groups. Therefore, the aim of the current study was to provide a clear picture of GSTM1 and GSTT1 null deletion and risk of prostate cancer among different ethnic groups (i.e. Asians, Europeans, Americans, Africans and Eurasians). A systematic search was performed with the help of various search engines to find out the all the recent studies (2004 to 2015) evaluating the role of GSTM1 and GSTT1 deletion in prostate cancer development. Odds ratios (ORs) with 95% confidence interval (CI) of a total of 34 studies with 7,281 cases and 9,082 controls was analyzed using STATA and MedCalc software. Overall, GSTM1 deletion (OR 3.67; CI 1.39-9.85; P= 0.001) was strongly associated with prostatic cancer. In the sub group analysis GSTM1 null deletion was also significantly associated with prostate cancer among Asians (OR 4.84; CI 1.08-21.5; P= 0.03), Eurasians (OR 17.69; CI 9.87-31.70; <0.001) and Americans (OR 0.11; CI 0.01-1.06; P= 0.05). No association was observed among Europeans (P=0.42) and Africans (P= 0.40). As a whole GSTT1 null deletion (OR 0.85; CI 0.28-2.58; P= 0.77) did not show anyt significant association with prostate cancer risk among different populations. When the data were stratified into different groups, however, Africans demonstrated a significant association of GSTT1 null deletion (OR 1.95; CI 1.57-2.39; <0.001) with prostate cancer, whereas no association was found among Asians (P= 0.90), Americans (P= 0.50), Europeans (P= 0.89) and Eurasians (P= 1.0). In conclusion, both GSTM1 and GSTT1 may contribute to prostate cancer development but GSTM1 may prove to be a stronger candidate risk factor.

Patients' insight of interpreting prescriptions and drug labels--a cross sectional study.

BACKGROUND: Errors in consuming drugs are associated with significant morbidity and mortality, besides an impact on the already overburdened health-care system. Misunderstanding drug labels and prescriptions plays an important role in contributing to adverse drug events. OBJECTIVE: To evaluate abilities to understand prescriptions and drug labels among patients attending tertiary care hospital in Karachi. METHODS: A cross sectional study was conducted at the Aga Khan University Hospital (AKUH), from January to March 2009. After informed consent, 181 adult patients and their healthy attendants were interviewed at AKUH using a standardized questionnaire, which ascertained patient demographics, factors that might increase exposure to health-care personnel as well as the basic knowledge and understanding of prescriptions and drug labels. RESULTS: Out of 181, majority 137(76%) had received graduate or post-graduate degrees. 16 (9%) had received no formal education; of which all were females and 89(84%) of the total females were housewives. Overall, 130(72%) followed only a single doctor's prescription. Majority failed to understand various medical terminologies related to dosage. In the high literacy group, 45(33%) understood once daily OD (p = 0.003), 27(20%) thrice daily TID (p = 0.05), 29(21%) twice daily BD (p = 0.01), 31(23%) thrice daily TDS (p = 0.002) and 43(31%) as needed SOS (p = 0.003) as compared to the group with no formal education, who were unable to comprehend the terms. The most common reason for using more than one prescription was decreased satisfaction with the doctor in 19(39%) and multiple co-morbids as responded by 17(35%) of patients. Knowledge regarding various medical terminologies used for dosage and routes of drug administration were also understood more frequently among the English medium respondents. The elderly identified medicine through color (47%, p<0.001), and were less likely to understand drug indications (p = 0.05) compared to younger subjects. CONCLUSION: Understanding of drug prescriptions is alarmingly low in the community, even amongst the educated. Care givers need to revisit this often ignored aspect of patient care.

Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn male who presented with the complaints of feed regurgitation, choking and cyanosis. There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism. The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the pre- and postnatal growth retardation, feeding problems and physical malformations including limb defects.