Recurrent Sporadic Bilateral Retinoblastoma in a Child with 13q Deletion Syndrome.

13q syndrome is a chromosomal abnormality in which there is a pathognomic deletion of the genetic material on the long arm (q) of chromosome 13. Phenotypes of this syndrome are variable depending on the location of the deleted segment. The main manifestations of the syndrome include mental retardation, craniofacial dysmorphism, and increased susceptibility to tumors. We report a unique case of recurrent sporadic bilateral retinoblastoma (Rb) in a four-year-old boy carrying 13q (q12q14) interstitial deletion, which was treated successfully via enucleation and chemotherapy. Where most patients with familial Rb receive a single mutated Rb1 allele as the 'first hit', a small number of patients encounter interstitial deletion of the long arm of chromosome 13, resulting in the loss of the tumor suppressor Rb1 gene and presenting as sporadic cases.

Diphenoxylate-atropine (Lomotil) Toxicity in Infantile Diarrhea: A Case Report of Therapeutic Failure.

Diphenoxylate-atropine (Lomotil) intoxication incidence was significantly high in the past, but seeing such cases in the present day of modern and advanced medicine, hints about the gaps in the practice of medicine. In our case, a general physician maltreated an infant for diarrhea with an adult dose of diphenoxylate-atropine (Lomotil), a Food and Drug Administration (FDA) unapproved drug, which caused labored breathing and pinpoint pupils. After being maltreated, at the time of presentation to the emergency room (ER), she was being misdiagnosed as a case of dehydration until doctors noticed miosis and reached the diagnosis of diphenoxylate-atropine (Lomotil) toxicity. Her condition completely reversed with a single dose of naloxone. Hence, this case highlights the need for basic knowledge about the dosage of drugs for different age groups, especially infants, along with the importance of adherence to the evaluation protocols for accurate management.

Opioids Use and Abuse: Prescription Practice, Attitude, and Beliefs among Doctors of Karachi.

Background Opioid analgesics, also known as narcotics, are medicinal drugs used primarily for the management of pain secondary to any type of cancer, severe injury or surgery. Due to the ease of availability, opioids are commonly abused. In 2015, reported deaths exceeded 33,000 Americans from opioid overdose. A survey in 2013 revealed nearly 1.6 million Pakistanis abusing prescription opioids for non-medical needs. Although commonly prescribed by primary care physicians, most of them are diffident to stand by all the recommended strategies to reduce the incidence of opioid abuse. Methods A cross-sectional study was conducted during the period of August through October 2018. A sample size of 365 was determined using a 95% confidence interval at a degree of precision of 5%. A 22-item questionnaire was given to doctors with at least two years practicing experience either from a private or a public healthcare setup. Doctors who had never prescribed opioids were excluded from the study. Out of the eligible participants, 15 refused to take part in the survey, and the co-operation rate was recorded as 95.8%. Collected data were analyzed using statistical package for social science (SPSS) version 22 for Windows. Frequencies, percentages, mean, standard deviation, and chi-square were used to explore the variables. The statistical significance level was considered at p < 0.5. Results Opioids were reported to be used mainly for treating acute pain (40.5%), chronic pain (24.7%) and both acute and chronic (34.8%). A minority of doctors (29%) screened their patients for opioid addiction. A significant association (p = 0.000) between the frequency of opioid prescription and prior screening for depression was determined. Surprisingly, only 23.2% clinicians frequently screened their patients for depression before prescribing opioids. The rate of counselling regarding drug tapering was found to be 71.6%. A majority, i.e., 88%, of the respondents anticipated the misuse of opioids they prescribe whereas 74% also held a belief that patients self-medicate their untreated pain. Participants reported addiction (54%) as the most common reason for abuse followed by the role of pharmaceutical companies (43%) and pharmacies (41%). About 80.2% clinicians believed that patients addicted to opioids could get well and return to their daily routine. Conclusion The rising opioid epidemic is a major concern for doctors prescribing opioids. Adaptation of medical school curricula and appropriate training can equip doctors for better management of patients requiring opioids. This includes the screening of patients using standard risk assessment tools for opioid abuse leading to a more controlled opioid prescription practice. Dissemination of these tools will boost doctors' confidence and may help in reducing morbidity and mortality from opioid abuse.

Awareness and Self Care Practices of Elderly Men Regarding Prostate Diseases in Karachi, Pakistan.

BACKGROUND: The prostate gland is a male sexual organ which has a number of diseases associated with it, such as prostatitis, benign prostatic hyperplasia (BPH), and prostatic cancer (PC). BPH is the most common neoplasm, and it causes significant urinary symptoms in adult males. According to the World Health Organization (WHO) report of 2014, out of all the cancers, PC had the fifth highest incidence in males throughout Pakistan. The purpose of this study was to determine the awareness of elderly men of Karachi regarding prostate diseases (PDs) and their attitude towards screening practices. METHOD: From September to December 2018, a cross-sectional study was performed among 450 men of Karachi older than 50 years of age. Frequencies and percentages were evaluated for categorical variables using Statistical Package for Social Sciences (SPSS), version 22 (IBM SPSS Statistics, Armonk, NY). Chi-square test was used to determine if there was any significant difference. A p-value of < 0.05 was considered significant. RESULT:  A total of 350 respondents answered the questionnaire. The mean age of the respondents was 61 years. Almost half of the population had heard about the prostate but 64% did not know any PDs, whereas 48% were aware of the increased risk of PDs in the elderly. Almost 48% of the respondents believed that age was the main cause of disorders involving the prostate. Even though the knowledge was lacking, people had an overall positive attitude. Most respondents (66%) had the attitude that all adult men must undergo prostate screening. The majority of respondents (85%) had not undergone screening of the prostate as the huge group of participants (86%) had not been advised to do it. Upon statistical testing, having heard about the prostate and undergoing prostate screening in the past (p = 0.008 and 0.024, respectively) was significantly associated with age. Having prior experience with prostate screening was also associated significantly with marital status (p < 0.001). CONCLUSION:  Respondents have inadequate knowledge about PC but a good attitude about undergoing prostate examination. It is absolutely crucial to increase information on the risks of PDs, particularly PC, and the benefits of early detection.

Rare Case of Peritonitis due to Ileal Perforation Secondary to Richter's Type of Obturator Hernia.

Obturator hernia is an extremely rare condition accounting for almost 0.07%-1% of all abdominal wall hernias, usually occurring in the elderly and emaciated females with a history of previous abdominal surgery. The symptoms of this particular hernia are non-specific; therefore, a high index of clinical suspicion should always be made. This rare condition may lead to acute small intestinal obstruction. The pre-operative diagnosis is challenging and often misleading on occasions, especially in co-morbid cases. This leads to delayed diagnosis and surgical intervention, hence causing an increased morbidity and mortality rate. The computed tomography (CT) scan of the abdomen and pelvis is the gold standard for diagnosis. We present a case of an 80-year-old female, with known comorbid of hypertension, initially diagnosed as peritonitis and on further examination revealed strangulated obturator hernia with proximal perforation, that underwent lower midline laparotomy with resection of necrotic bowel, an end-to-end anastomosis, and repair of the defect by vicryl suture.

Rhino-oculo Cerebral Mucormycosis Resistant to Amphotericin B in a Young Patient with Diabetic Ketoacidosis.

Rhino-oculo cerebral mucormycosis (ROCM) is a rare, invasive, and rapidly progressive fungal infection affecting nose, paranasal sinuses and often extending to orbit, brain, and palate. The immunocompromised, more commonly patients with diabetes mellitus, fall victim to this lethal form of fungus. Although the therapeutic approach includes aggressive surgical and medical interventions, ROCM remains a life-threatening infection with poor prognosis. This rare case addresses the outcomes of ROCM in a young patient with delayed diagnosis and resistance to amphotericin B (Ampho B) contributing to dreadful outcomes.

Osteomyelitis Secondary to Ponseti Method for the Treatment of Clubfoot Associated with Meningomyelocele.

Congenital talipes equinovarus (CTEV), otherwise known as clubfoot (CF), is a common congenital abnormality of the foot, stemming in most cases from an idiopathic cause or in the remaining non-idiopathic occurrences, from meningomyelocele (MMC). Ponseti method (PM), being a gold standard treatment for the correction of this foot deformity, requires a series of regular casting usually accompanied by percutaneous tenotomy of the Achilles tendon and later maintained via abduction braces. Osteomyelitis (OM), as a complication of PM, is rarely reported especially in cases of CF-associated with MMC in which majority of the patients present with varying level of sensory deficit in the lower limbs. Therefore, the absence of pain due to neuropathy leads to a delayed diagnosis of cellulitis and chronic abscesses. We present a case of an eight-year-old male child with exogenous OM as a complication of PM affecting the tarsal bones of his right foot. After an established diagnosis using laboratory results and imaging modalities, the patient was successfully treated with broad spectrum antibiotics achieving full resolution of his clinical symptoms. We report this case due to its rarity.