Case report: Emergency management of unilateral herniation of bowel and a bilateral defect of the broad ligament in a resource limited setting.

INTRODUCTION: Broad ligament herniation is a rare type of internal hernia, presenting as a diagnostic challenge. An exploratory laparotomy can be performed to definitively diagnose and treat the defect. CASE PRESENTATION: A 36-year-old female, with no known comorbids and no significant past medical and surgical history presented with acute abdominal pain, multiple episodes of vomiting, and absolute constipation. After clinical and radiologic investigations, the diagnosis of an internal herniation of small bowel to the broad ligament was suspected. An emergent exploratory laparotomy was then performed. Intra-operatively it was found that she had a bilateral defect to the broad ligament and a unilateral broad ligament hernia (BLH). Postoperatively she remained vitally stable and was discharged home. CLINICAL DISCUSSION: We report a rare case of a unilateral broad ligament hernia with a bilateral defect. Diagnosis of BLH is associated with diagnostic uncertainty mainly due to its rarity and nonspecific presentation. CONCLUSION: Although broad ligament herniation is rare, it is a significant cause of intestinal obstruction and may result in complications if not attended to timely. Early diagnosis and management is necessary to minimize associated morbidity and mortality that can occur as a consequence of bowel ischemia and necrosis.

Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges.

Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive disorder resulting from mutations in the PHF6 gene. The syndrome is characterized by short stature, obesity, hypogonadism, hypotonia, intellectual disability, distinctive facial features, fleshy ears, and finger and toe abnormalities. However, the diagnostic challenge in identifying BFLS remains a topic of interest. In this case report, we present the clinical characteristics of a proband with BFLS, highlighting the additional features of hypotonia, intellectual disability, and distinctive facial features. While no definitive treatment exists for BFLS, patients benefit from specialized education and ongoing supervision from early childhood through adulthood. Symptomatic treatment, including close follow-up, may be necessary for complications such as seizures and hearing problems. Mastectomy or testosterone replacement therapy may be considered on a case-by-case basis. Genetic counseling for X-linkage should be offered to affected families.

Treatment of Pantothenate-Kinase Neurodegeneration With Baclofen, Botulinum Toxin, and Deferiprone: A Case Report.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder characterized by progressive motor symptoms, such as dystonia and spasticity. Classical PKAN is the most common subtype of neurodegeneration with brain iron accumulation (NBIA). Currently, there is no established treatment for PKAN. However, baclofen and botulinum toxin have been reported to improve motor symptoms and ease care in these patients. Additionally, Deferiprone is a well-tolerated iron chelator that has been shown to be effective in reducing brain iron accumulation. In this case report, we present the case of a seven-year-old boy who presented to our ward with spastic gait and extrapyramidal signs. Brain magnetic resonance imaging was performed, which showed features of neurodegeneration secondary to brain iron accumulation with a specific appearance of the eye-of-the-tiger sign. Genetic testing was positive for a homozygous mutation in PANK2, and the diagnosis of early-stage classical PKAN was made. This case report highlights the potent efficacy of baclofen, botulinum toxin, and deferiprone in slowing down the disease progression at an early stage and improving the severity of symptoms.

Home Isolated COVID-19 Patients Adhering To Recommended Guidelines: A Cross Sectional Survey In Karachi.

Objectives: To assess compliance level of coronavirus disease-2019 patients with recommended isolation guidelines. METHODS: The cross-sectional phone-based survey was conducted in Karachi, from March to October 2020 after approval from the ethics review board of Dow University of Health Sciences, Karachi, and comprised patients of either gender who had been tested positive and were advised home isolation due to mild/asymptomatic nature of their infection. Data was collected using a predesigned 42-item questionnaire in the light of the guidelines issued by the National Institutes of Health, Islamabad, Pakistan. Data was analysed using SPSS 20. RESULTS: Of the 450 patients approached, 305(68%) responded; 176(57.7%) females and 129(41.1%) males. The overall mean age was 35.16±14.15 years (range: 13-78 years). Of the total, 9(2.95%) patients did not isolate themselves at all, 51(16.7%) came into contact with other people, 75(24.6%) broke the home isolation and 69(22.6%) were sharing their rooms with other family members. Overall, 260(85.2%) participants were keeping themselves updated with the changes in the guidelines through conventional and social media. CONCLUSIONS: Coronavirus disease-2019 patients who were advised home isolation adhered to some but not all of the recommendations.

Asthma exacerbations and body mass index in children and adolescents: experience from a tertiary care center.

The prevalence and incidence of asthma continue to rise globally. Obesity has been identified as a potential risk factor for asthma exacerbations. The association between body mass index (BMI) and asthma is not well studied in some regions. This study aims to investigate the impact of BMI in pediatric asthmatic patients. This retrospective study was conducted at the Aga Khan University Hospital from 2019 to 2022. Children and adolescents with asthma exacerbation were included. The patients were classified into four groups based on their BMI: underweight, healthy weight, overweight, and obese. The demographic characteristics, medications used, predicted FEV1 measurements, asthma exacerbations per year, length of stay per admission, and the number of patients requiring High Dependency Unit (HDU) care were recorded and analyzed. Our results demonstrated that patients in the healthy weight category had the highest percentage of FEV1 (91.46±8.58) and FEV1/FVC (85.75±9.23) (p<0.001). The study found a significant difference in the average number of asthma exacerbations per year between the four groups. Obese patients had the highest number of episodes (3.22±0.94), followed by the underweight group (2.42±0.59) (p<0.01). The length of stay per admission was significantly shorter for patients with a healthy weight (2.0±0.81), and there was a statistically significant difference observed in the number of patients requiring HDU care among the four groups, as well as in the average length of stay at the HDU (p<0.001). Elevated BMI is related to an increased number of annual asthma exacerbations, a low FEV1 and FEV1/FVC, increased length of stay at admission, and increased stay in the HDU.

Relationship between musculoskeletal discomfort and cell phone use among young adults: A cross-sectional survey.

BACKGROUND: Cell phone usage is highly prevalent among young adults. They are used for multiple purposes including communication, studies, social networking and entertainment. However, its excessive usage has been associated with adverse health outcomes. OBJECTIVE: The objective was to find the association of cell phone usage with musculoskeletal discomfort (MSD) and its associated factors. METHODS: A cross-sectional study was conducted on young adult students from a low-middle income country over a period of 3 months from December 2018 to February 2019. A structured questionnaire based on the Disabilities of the Arm, Shoulder and Hand (QuickDASH scoring) was used to record the musculoskeletal discomfort. RESULTS: Out of 803 questionnaires, data of 754 (94%) were entered and the remaining questionnaires (n = 49) were discarded due to incomplete answers. The mean age was 20.83 (1.62) years. In our study, there were 194 (25.7%) males and 560 (74.3%) female participants. Neck and shoulder were the most frequently affected regions. A significant difference in QuickDASH score was observed between genders (p-value p ≤ 0.001). Left-handed individuals scored significantly higher on QuickDASH score compared to right-handed individuals (p < 0.05). Increased musculoskeletal discomfort was reported by individuals with daily cell phone use of more than four hours (p < 0.05). A positive significant correlation was found between continuous one hour cell-phone use and higher mean QuickDASH scores (correlation coefficient 0.124, p value 0.001). Shorter eye-to-screen distance was significantly associated with MSD (p < 0.05). CONCLUSION: Musculoskeletal discomfort is associated with the female gender, duration of cell phone use and a small eye-to-screen distance.

Benefits of negative pressure wound therapy with fat migration during revisional total hip arthroplasty in an obese patient: A case report.

INTRODUCTION: A 38-year-old African American woman presented with right hip pain and movement restriction. Her medical history included a right hip and knee arthroplasty 10 years prior, history of Slipped Capital Femoral Epiphysis and osteonecrosis of the hip. Preoperative assessment was significant for multiple comorbidities such as obesity (BMI > 38), hypertension, asthma. PATIENT CONCERNS: The patient presented with right hip pain, rated 7/10, and restricted hip flexion, adduction, and abduction. DIAGNOSIS: Recent imaging showed eccentric deterioration of the polyethylene lining of her prosthesis, acetabular hypertrophy on her right hip prosthesis, and chronic deformity of the pubic bone. INTERVENTIONS: Based on these findings, a revisional total hip arthroplasty was performed. After the surgical procedure, the WoundVAC and the percutaneous drain were applied outside the tensor fascia lata to reduce seroma and hematoma formation. Postoperative pain control, antibiotics and DVT prophylaxis were given. On post-op day 3, an irrigation and debridement with delayed primary wound closure was performed under sterile conditions. OUTCOMES: On postoperative assessment, the wound demonstrated adequate healing without any signs of infection. Sutures and staples were removed 4 weeks post-op. Upon palpation there was no edema, effusions, temperature changes, tenderness. Clinical inspection revealed symmetrical alignment of the pelvis and hips. Range of motion testing revealed restriction beyond 80 degrees upon flexion and beyond 5 degrees of adduction and 10 degrees of abduction. The surgical site was noted to be healed at 6 weeks post-op. The patient continued to do well to date, without exacerbations. CONCLUSION: Obesity increases the risk of post-operative complications and wound healing failure. Therefore, Vacuum-assisted wound closure (WoundVAC), a type of negative pressure wound therapy, was applied outside the tensor fascia lata post-operatively, where the surgical incision was made. Negative pressure wound therapy facilitates wound healing by stimulating angiogenesis and promoting granulation tissue formation, which in turn can reduce the risk of surgical site infection in obese patients undergoing total hip arthroplasty. Highlighted is the mechanism of fat migration in the promotion of wound healing after preoperative weight loss and exercise.

Age Related Characteristics Of Children And Adolescent With Henoch Schönlein Purpura And Systems Involvement: An Experience From Tertiary Care Center.

BACKGROUND: Henoch-Schönlein Purpura (HSP) is the most common vasculitis among children and adolescent characterized by skin, joints, renal and gastrointestinal involvement. There is different presenting feature of Henoch-Schönlein Purpura (HSP) and systemic involvement may vary at a certain age group. METHODS: This was a ten-year retrospective cohort study done at a tertiary care hospital of Pakistan conducted from 2011-2020. Patients admitted with the diagnosis of Henoch- Schönlein Purpura (HSP) and in accordance with inclusion criteria were divided into groups based on their age, gastrointestinal symptoms and renal symptoms with the objective to compare the clinical features and investigations of Henoch-Schönlein Purpura (HSP) patients. Younger age group had patients age 7 years and less while the other group included patients who were older than 7 years. pvalue <0.05 was considered as significant and SPSS 23 was used to analyzed the data. RESULTS: Total 104 patients diagnosed with Henoch-Schönlein Purpura (HSP) were studied. Henoch-Schönlein Purpura (HSP) was more prevalent in males with an increased frequency during autumn and winter. Purpuric rash was present in more than 90% of the patients involved. Joint swelling was significantly (p=0.029) more common in the younger age group (73.3%) while renal involvement was seen more frequent in the older age group (57.1%) (p=0.002). Renal symptoms were less commonly seen in patients with GI involvement. There was no significant difference in platelet count, WBC count and ESR levels among any of the groups. CONCLUSIONS: Age related difference in presentation help us to anticipate more renal involvement in older children and adolescent likewise joint involvement is more commonly seen in younger children.

Knowledge, Attitudes, and Perceptions Toward Dementia Among Middle-Aged Singapore Residents.

BACKGROUND: Dementia is the decline in cognitive function sufficient to impair one's accustomed functioning. Countries with aging populations, such as Singapore, face rising rates of dementia. Dementia patients and their caregivers endure great financial and emotional stress. With the broad aim of minimizing these stresses, this study provides a cross-sectional view of the knowledge, attitudes, and perceptions (KAP) towards dementia in middle-aged Singaporean residents. OBJECTIVE: We aim to examine 1) the associations between demographic correlates and KAP; and 2) the effect of dementia knowledge on attitudes and perceptions towards dementia. METHODS: An online anonymous cross-sectional questionnaire was administered to Singaporeans and Permanent Residents aged 45 to 65 years old in English, Mandarin, and Malay. Knowledge was evaluated across three domains: symptoms, risk factors, and management. Total and domain scores were dichotomized as good or poor knowledge using median cut-offs. Attitudes/perceptions across six domains were evaluated on Likert scales, and responses to each question were dichotomized into positive or negative attitudes/perceptions. RESULTS: From 1,733 responses, 1,209 valid complete responses were accepted (mean age±SD 54.8±5.12 years old, females = 69.6%). Lower socioeconomic status was associated with poorer knowledge and greater barriers to risk-mitigating lifestyle modifications. Lack of personal experience with dementia and poor knowledge were also associated with erroneous attitudes/perceptions. CONCLUSION: Socioeconomic status and personal experience affect KAP towards dementia. Policy and education campaigns to address KAP towards dementia should account for baseline differences across demographics, for greater improvements in dementia incidence and support.

Characteristics of electrolyte imbalance and pseudo-bartter syndrome in hospitalized cystic fibrosis children and adolescents.

INTRODUCTION: Pseudo-Bartter syndrome (PBS) is a rare manifestation of Cystic fibrosis (CF) and can often be the initial presentation in these patients, however, due to significantly overlapping symptoms it is often misdiagnosed as simple dehydration or Bartter syndrome. The objective of our study was to highlight the key features of PBS and electrolyte imbalance in CF patients helping in early and prompt diagnosis. METHOD: We performed a retrospective study from January 2015 to December 2019 at the Aga Khan University Hospital (AKUH), Pakistan. CF patients aged from 1-18 years, admitted at AKUH were enrolled and their laboratory data and individual charts were reviewed. Patients were categorized into three groups based on their serum electrolyte profile and their clinical findings were compared. RESULT: We enrolled 72 CF patients, out of which 42 (58%) were categorized into the Normal Electrolyte (NE) group, 19 (26%) into the Electrolyte Imbalance (EI) group and 11 (15%) in the PBS group. Out of 11 cases, 6 (54.54%) patients in PBS group presented with features consistent with PBS leading to CF diagnosis labeled as "early presenters". Mean age of patients in the PBS group was 3.81± 0.86 years and their age at diagnosis were significantly lower as compared to other groups. Gastrointestinal disturbances including diarrhea, vomiting and constipation were more common in the EI and PBS groups. Polyuria was most common in the PBS (72%) group. Length of hospital stay showed no significant difference. CONCLUSION: Pseudo-Bartter syndrome can be a presenting feature of cystic fibrosis. Electrolyte imbalance should be anticipated in hospitalized CF children and adolescent.

Prevalence and Predictors of Contraception Usage in Karachi, Pakistan.

Background Contraception, also known as family planning, refers to methods that intercept unwanted pregnancies. The modalities of contraception have evolved and multiplied over time to facilitate users. Despite enormous benefits, the contraceptive methods remain underutilized in developing countries such as Pakistan. Accordingly, the primary purpose of our study is to determine the prevalence, perception, and attitude of contraceptive usage in Karachi. The study further assesses the knowledge and core determinants of contraception. Methods A cross-sectional study was conducted in Karachi, Pakistan. The sample population comprised currently married males and females residing in Karachi, with females from 16 to 45 years of age and males of 16 years of age and forth. Pregnant females, divorcees, and widowed individuals were excluded. A pre-tested questionnaire was administered to record the demographics, knowledge, and frequency of contraceptive usage, and attitude and perception towards contraception. The data were analyzed using the Statistical Package for the Social Sciences (SPSS( v. 23.0 (IBM Corp. Armonk, NY). Results Results depicted that 93.4% (n=468) had knowledge of contraception while 49.7% (n=249) were currently using contraception. The most frequently employed contraceptive modality emerged as condoms (n=163, 65.5%), followed by withdrawal (n=71, 28.5%) and pills (n=62, 24.9%). The prevalence of contraceptive usage was more inclined towards the educated stratum and higher socioeconomic class. Potential predictors for contraceptive usage came out as the number of children, knowledge regarding contraception, spouse's support for usage, a desire for more children, and family planning counseling (p<0.05). Conclusion There is a drastic increase in the prevalence of contraceptive usage in Pakistan as compared to previous studies. Efforts must be made to further augment the knowledge and awareness regarding contraceptive modalities to increase acceptability and eliminate myths prevalent in society regarding contraception.

Frequency and Predictors of Pacifier Use in the Low Socioeconomic Group of Karachi, Pakistan: A Cross-Sectional Study.

Background Pacifier use has been popular for ages. They are prevalent all over the world because of their various perceived benefits. On the other hand, there is a common belief that they do carry health risks as well. Due to these contradicting belief systems, the frequency of their use, and the factors that determine them, need to be thoroughly evaluated. Since Pakistan is a developing country with a low literacy rate, it can be implied that a vast majority of the country's population may lack awareness regarding the advantages and disadvantages of pacifier use, making them incapable of weighing associated risks versus benefits. The data evaluating these factors in this region are however scarce in the published literature. We, therefore, aimed to highlight the frequency and predictors of pacifier use in the low socioeconomic group of Karachi, Pakistan. Materials and methods A descriptive, cross-sectional study was conducted on a sample of 300 mothers visiting a tertiary care hospital in Karachi, Pakistan. We included mothers who had at least one child under the age of two years, and whose child did not have any oro-nasal anomaly that could prevent them from sucking a pacifier. Data were collected using pre-tested questionnaires and analyzed using the Statistical Package for Social Sciences (SPSS version 23.0, IBM Corp., Armonk, NY, US). Frequencies were calculated and presented in the form of tables. The chi-square test was used to determine the significance of all categorical variables. A P-value of <0.05 was considered to be statistically significant. Results Almost half of our respondents (49%) gave pacifiers to their children. A significant number (59%) of these mothers were uneducated. Almost all (97%) of the users had annual household income less than 15,000 Pakistani rupees (PKR); 34% were primiparous and more than two-thirds (71%) had a normal vaginal delivery. Out of all the factors, maternal age less than 20, annual household income less than 15,000 PKR, and primiparity were significantly associated with pacifier use in mothers (P<0.05). Only a half of the users (51%) cleaned the pacifiers by boiling; one-fourth (25%) washed it with water only; while 18% washed it with soap and water. The majority (84%) of the mothers used the pacifier to soothe the baby when upset. Among mothers who did not use a pacifier, about a third (30%) did not do so as they believed it's a bad practice. About one-fourth (27%) believed it was unhygienic. Conclusions Our study highlights the gap in the awareness of mothers regarding pacifier use. Using this data, we can target to disseminate specific information to this population to integrate safe and healthy child care habits in society.

Pierson Syndrome Associated with Hypothyroidism and Septic Shock.

Pierson syndrome is caused by mutations in the laminin ß2 gene causing absent ß2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. The mutations manifest as congenital nephrotic syndrome and microcoria which are characteristic ocular features of this disease. These mutations may also result in neurological abnormalities such as hypotonia and psychomotor retardation. We report a two-month old boy who presented to the Pediatrics Department of Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan, in 2015, with the typical features of microcoria and congenital nephrotic syndrome. The hypocalcaemia, hypoproteinaemia and probable immunocompromised state consequent to nephrotic syndrome resulted in seizures, hypothyroidism and urosepsis. Despite being treated aggressively with high dose antibiotics, ionotropic support, angiotensin-converting enzyme inhibitors, thyroxine replacement and nutritional support, the infant died due to significant multiorgan disease including renal failure and septic shock.

Anisotropy of Graphene Nanoflake Diamond Interface Frictional Properties.

Using molecular dynamics (MD) simulations, the frictional properties of the interface between graphene nanoflake and single crystalline diamond substrate have been investigated. The equilibrium distance between the graphene nanoflake and the diamond substrate has been evaluated at different temperatures. This study considered the effects of temperature and relative sliding angle between graphene and diamond. The equilibrium distance between graphene and the diamond substrate was between 3.34 Å at 0 K and 3.42 Å at 600 K, and it was close to the interlayer distance of graphite which was 3.35 Å. The friction force between graphene nanoflakes and the diamond substrate exhibited periodic stick-slip motion which is similar to the friction force within a graphene-Au interface. The friction coefficient of the graphene-single crystalline diamond interface was between 0.0042 and 0.0244, depending on the sliding direction and the temperature. Generally, the friction coefficient was lowest when a graphene flake was sliding along its armchair direction and the highest when it was sliding along its zigzag direction. The friction coefficient increased by up to 20% when the temperature rose from 300 K to 600 K, hence a contribution from temperature cannot be neglected. The findings in this study validate the super-lubricity between graphene and diamond and will shed light on understanding the mechanical behavior of graphene nanodevices when using single crystalline diamond as the substrate.

Back Pain: A Rare Presentation of Takayasu Arteritis.

Takayasu arteritis (TA) is a chronic inflammatory large-vessel vasculitis of the aorta and its major branches. It is a relatively rare disease, which presents with a wide spectrum of clinical features. Back pain is, however, rarely described to be a presenting symptom of TA. We report a case of a 28-year-old female with no known co-morbidity, who presented with back pain along with intermittent fever, dry cough, and significant weight loss. After an extensive inpatient workup, a computed tomography (CT) scan with contrast of chest and abdomen revealed evidence of vasculitis involving aorta, common carotid arteries, renal arteries, common iliac arteries as well as external and internal iliac arteries. A confirmatory CT abdominal aortography established the diagnosis of TA. The patient was treated with long-term oral corticosteroid therapy. Our case highlights that while assessing nonspecific back pain with elevated inflammatory parameters, particularly in young women, TA should be considered as one of the differential diagnoses.