Background: In India, the low public health priority given to rare disorders such as hemophilia hinders their management and optimal care, leading to relatively poor health outcomes. This study aims to profile the multidimensional health status of patients with severe hemophilia A, and its association with the use of healthcare resources and the cost of care in Mumbai region of India. Subjects and Methods: A cross-sectional, single-center study was conducted during January–May 2011, among 160 patients diagnosed with severe hemophilia A in Mumbai region of India. Their health status was documented using the Hemophilia Utilization Group Study's validated instrument of Functional Health Status Measure (FHS) and a single item of Self-care Measure. Results: Of 160 patients, 55% (n = 88) scored on the lower side on the FHS, with an average score of 6.65 ± 2.85. The use of healthcare resources and cost of treatment were considerable for patients with a lower mean rank score on the FHS and a higher mean rank score on the self-care measure. The consumption of clotting factor concentrates (CFCs), number of visits to a health facility and incidence of inpatient episodes were significantly associated with a relatively low score on the FHS. Similarly, a higher cost of treatment, in terms of the cost of CFCs, direct cost, emergency room cost, and indirect cost, were significantly associated with a lower score on the FHS. Conclusion: The health status of patients with severe hemophilia A is compromised and has a significant impact on the use of healthcare resources and the cost of treatment.

Objective: The residents undergoing training at hospitals in our country face challenges in terms of infrastructure and high workload with undefined working hours. The aim of the study was to compare the stress and burnout levels in trainee doctors doing residency in surgical fields and anesthesia at a tertiary care academic center in North India. Materials and Methods: A comparative, observational study was conducted in a tertiary care teaching hospital in North India. After Ethics Committee approval, 200 residents (100 each from surgical branches and anesthesia) were required to fill a questionnaire with information about age, sex, year of residency, marital status, and the Perceived Stress Scale-10, and Burnout Clinical Subtype Questionnaire-12. Burnout and perceived stress were compared between residents of anesthesia and surgical specialties. Results: Residents of both surgical and anesthesia branches scored high in perceived stress, namely 21 and 18, respectively. The score was significantly higher in surgical residents (P = 0.03) and increased progressively with the year of residency. The majority of residents (90% surgical, 80% anesthesia) felt that they were being overloaded with work. However, only 20%–30% of respondents felt that there was lack of development of individual skills and still fewer (<10%) reported giving up in view of difficulties. Conclusion: There is high level of stress and overload dimension of burnout among the residents of anesthesia and surgical branches at our tertiary care academic institution and the surgical residents score marginally higher than anesthesia residents.

Background: The currently used D-dimer (DD) cutoff point is associated with a large number of negative CT-pulmonary angiographies (CTPA). We hypothesized presence of deficiency in the current cutoff and a need to look for a better DD threshold. Materials and Methods: We conducted a retrospective medical records analysis of all patients who had a CTPA as part of pulmonary embolism (PE) workup over a 1-year period. All emergency room (ER) patients who had DD assay checked prior to CTPA were included in the analysis. We assessed our institutional cutoff point and tried to test other presumptive DD thresholds retrospectively. Results: At our institution 1591 CTPA were performed in 2014, with 1220 scans (77%) performed in the ER. DD test was ordered prior to CTPA imaging in 238 ER patients (19.5%) as part of the PE workup. PE was diagnosed in 14 cases (6%). The sensitivity and specificity of the currently used DD cutoff (0.5 mcg/mL) were found to be 100% and 13%, respectively. Shifting the cutoff value from 0.5 to 0.85 mcg/mL would result in a significant increase in the specificity from 13% to 51% while maintaining the same sensitivity of 100%. This would make theoretically 84 CTPA scans, corresponding to 35% of CTPA imaging, unnecessary because DD would be considered negative based on this presumptive threshold. Conclusions: Our results suggest a significant deficiency in the institutional DD cutoff point with the need to find a better threshold through a large multicenter prospective trial to minimize unnecessary CTPA scans and to improve patient safety.

Background: Perioperative enteral nutrition (EN) enriched with immune-modulating substrates is preferable for patients undergoing major abdominal cancer surgery. In this study, perioperative EN enriched with immune-modulating nutrients such as arginine, glutamine, and omega-3 fatty acids was evaluated for its anti-inflammatory efficacy in patients with gastric adenocarcinoma or gastrointestinal stromal tumor (GIST) receiving curative surgery. Materials and Methods: This prospective, randomized, double-blind study recruited 34 patients with gastric adenocarcinoma or gastric GIST undergoing elective curative surgery. These patients were randomly assigned to the study group, receiving immune-modulating nutrient-enriched EN, or the control group, receiving standard EN from 3 days before surgery (preoperative day 3) to up to postoperative day 14 or discharge. Laboratory and inflammatory parameters were assessed on preoperative day 3 and postoperative day 14 or at discharge. Adverse events (AEs) and clinical outcomes were documented daily and compared between groups. Results: No significant differences were observed between the two groups in selected laboratory and inflammatory parameters, or in their net change, before and after treatment. AEs and clinical outcomes, including infectious complications, overall complications, time to first bowel action, and length of hospital stay after surgery, were comparable between treatment groups (all P > 0.05). Conclusion: Immune-modulating nutrient-enriched EN had no prominent immunomodulation effect compared with that of standard EN.

Deep vein thrombosis and pulmonary thromboembolism are rare and life threatening emergencies in children. We report an 11-year old female who presented with acute complaints of high grade fever, pain in the left thigh and inability to walk and breathlessness since 6 days. On physical examination, there was a diffuse tender swelling of the left thigh, tachypnea, tachycardia with hyperdynamic precordium and bilateral basal crepitations. Ultrasonography and venous doppler of lower limbs showed mild effusion of left hip joint and thrombus in the left common femoral vein and left external iliac vein suggesting a diagnosis of septic arthritis with thrombophlebitis. The tachypnea and tachycardia which was out of proportion to fever and crepitations on auscultation prompted suspicion of an embolic phenomenon. Radiograph of the chest revealed multiple wedge shaped opacities in the right middle zone and lower zone suggestive of pulmonary embolism and left lower zone consolidation. For corroboration, computed tomography pulmonary angiography and computed tomography of abdomen was performed which showed pulmonary thromboembolism and deep venous thrombosis extending up to infrarenal inferior vena cava. On further workup, magnetic resonance imaging of hips showed left femoral osteomyelitis and multiple intramuscular abscesses in the muscles around the hip joint. Blood culture grew methicillin resistant Staphylococcus aureus. Antibiotics were changed according to culture sensitivity and there was a dramatic response. After four weeks of anticoagulation and antibiotics the child became asymptomatic and thrombus resolved. Thus, it is crucial to consider methicillin resistant Staphylococcus aureus infection as an important infection when we encounter such a clinical scenario. This case report highlights an unusual and potentially life threatening presentation of a virulent strain of a common pathogen, which when diagnosed was completely amenable to treatment.

Chronic nonbacterial osteomyelitis (CNO) is a little known autoinflammatory bone disorder primarily affecting children and sometimes young adults. Diagnosis is often delayed due to its varied and nonspecific initial symptoms. Very few cases are reported from India. The aim of this report is to increase the awareness of this disease among physicians, orthopedic surgeons, and rheumatologists. Four male patients were diagnosed with CNO in the past 3 years. The age at onset varied from 9 to 23 years with a median diagnostic delay of 3.5 years. All patients presented with recurrent bony pain with or without localized swelling over the affected bones. Two patients had previously undergone open surgical procedures with bone biopsies and three patients had received at least one course of antibiotics. Two patients responded well to nonsteroidal anti-inflammatory drugs alone, one patient required a short course of glucocorticoids, and another patient required methotrexate to control disease activity. This case series includes males, onset at a relatively later age in most, and a longer diagnostic delay. Thus, in addition to children and adolescents, CNO should be suspected in young adults presenting with recurrent bony pain with or without localized swelling.

Atypical presentations of cutaneous tuberculosis (TB) are not uncommon and are frequently overlooked in clinical practice, leading to late diagnosis and increased morbidity. Strong clinical suspicion, histopathology, and response to antituberculous treatment are required for its diagnosis. In today's era, when TB threatens to burst into pandemics again, early diagnosis and treatment are very important for the control of disease. We are reporting a case of cutaneous TB which was initially thought to be a mycetoma.

Dilated cardiomyopathy (DCM) is an idiopathic condition that results from impaired ventricular systolic function. Thyroid diseases have been known to cause myriad changes in the structure and function of the heart. Diastolic dysfunction is a common abnormality reported in hypothyroidism. However, hypothyroidism-induced DCM and systolic dysfunction is an uncommon phenomenon, especially as the initial presenting manifestation of hypothyroidism. The current article describes the case of a young female who presented with symptoms of heart failure and was diagnosed as having DCM as echocardiography revealed left ventricular global hypokinesia and severely depressed systolic function. Thyroid profile revealed a grossly elevated thyroid-stimulating hormone (TSH) value of 313 μIU/ml; free thyroxine (fT4) was 0.220 ng/dl. The present case presented with DCM as the initial presentation of hypothyroidism and improved significantly after five months of levothyroxine replacement therapy.

Fructose-1, 6-bisphosphatase 1 (FBP1) deficiency is an autosomal recessive disorder of gluconeogenesis resulting in severe and recurrent life-threatening episodes of hypoglycemia and lactic acidosis in infancy. We report a 16 month-old girl who presented with recurrent episodes of vomiting, rapid breathing, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Genetic analysis revealed a novel compound heterozygous mutation in FBP1 gene confirming the diagnosis of FBP1 deficiency. The patient was managed with treatment of acute episodes and preventive long-term dietary modifications. Long-term prognosis of FBP1 deficiency is excellent underlining the importance of early recognition of clinical signs, prompt diagnosis, and avoidance of fasting in this disease. FBP1 gene mutations have been described from various ethnic backgrounds, but there is limited data available from Indian population, hence the importance of this case.

We report a case of incarcerated left indirect inguinal hernia in a male child which on exploration revealed the presence of free air and fecal matter containing fluid in the hernial sac. This is the second reported case of the presence of cecal perforation in left Amyand's hernia in pediatric age group and unique in the sense of the form of abnormal anatomy encountered per-operatively.

Ureterocolic fistulae are a rare phenomenon and are most commonly seen secondary to obstructive ureteric calculi. These are usually diagnosed on barium enema or intravenous urography. Most of the times, more than one investigation is needed to confirm the findings. We present a case of iatrogenically-induced ureterocolic fistula, diagnosed on renogram and direct radionuclide cystography. This case showcases the possibility of using a renogram study as a diagnostic tool for a suspected ureterocolic fistula. A renogram study also enables to asess the renal function, which is essential in deciding the management.