Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures.

Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder. An enzyme complex called branched-chain alpha-keto acid dehydrogenase (BCKAD) metabolizes branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, in the body. The deficiency of this enzyme causes the accumulation of BCAAs in cerebrospinal fluid, plasma, and urine. This metabolic illness is defined by abnormal levels of BCAAs. The pathognomonic illness marker alloisoleucine is produced in the absence of the BCKAD enzyme, which is part of a metabolic pathway involving three BCAAs and gets accumulated in the body. Classically, affected neonates present with feeding problems, vomiting, lethargy, and irritability, leading to seizures, coma, and death if left untreated. Blood and urine analysis reveals an accumulation of BCAAs in the plasma and urine. Here, we report the case of a neonate on day 10 of life with febrile seizures and non-acceptance of feeds, who was diagnosed with the classical form of MSUD. This is a classic case of MSUD which was evaluated exhaustively and revealed all classic features clinically and on investigations.

Relapsing donovanosis rhyming with unexplained decline in CD4 count in a person living with HIV/AIDS: Long-term follow up and therapeutic outcome.

Donovanosis is a chronic genital ulcerative disease caused by the intracellular Gram-negative bacterium Klebsiella granulomatis, reported more frequently in people living with HIV/AIDS (PLHA). Here we present a case of relapsing donovanosis in a PLHA on second line antiretroviral therapy who had episodes of transient unexplained decrease in CD4 counts associated with rapid growth of the lesion and non-responsiveness to treatment followed by clinical resolution coinciding with recovery of the CD4 count.

Effect of Different Itraconazole Dosing Regimens on Cure Rates, Treatment Duration, Safety, and Relapse Rates in Adult Patients With Tinea Corporis/Cruris: A Randomized Clinical Trial.

Importance: With worldwide emergence of recalcitrant and resistant dermatophytosis, itraconazole is increasingly being used as the first-line drug for treatment of tinea corporis/cruris (TCC). Apparent inadequacy with low doses has led to empirical use of higher doses and antifungal combinations. Objective: To compare cure rates, treatment durations, safety profiles, and relapse rates of itraconazole 100, 200, and 400 mg/d for the treatment of TCC. Design, Setting, and Participants: This double-blind randomized clinical trial included adult patients with treatment-naive TCC involving at least 5% body surface area. Patients were recruited from the dermatology outpatient department of a tertiary care hospital in New Delhi, India between March 1, 2020, and August 31, 2021. Interventions: Patients were randomized to 1 of the 3 treatment groups. Biweekly blinded assessments were performed until cure or treatment failure. Posttreatment follow-up of at least 8 weeks was conducted to detect relapses. Main Outcome and Measures: Cure rates, treatment durations, safety profiles, and relapse rates were assessed. Secondary outcomes included comparison of rapidity of clinical response and cost-effectiveness between groups. Results: Of the 149 patients assessed, the mean (SD) age was 34.3 (12.2) years, 69 patients (46.4%) were women, and 80 patients (53.6%) were men. The difference in cure rate between the 100- and 200-mg groups was statistically nonsignificant (hazard ratio [HR], 1.44; 95% CI, 0.91-2.30; P = .12), while the difference between the 100- and 400-mg groups (HR, 2.87; 95% CI, 1.78-4.62; P < .001) and between the 200- and 400-mg groups (HR, 1.99; 95% CI, 1.28-3.09; P = .002) was statistically significant. Mean (SD) treatment durations were statistically significantly different between the 100- and 400-mg groups (7.7 [4.7] weeks vs 5.2 [2.6] weeks; P = .03) and between the 200- and 400-mg groups (7.2 [3.8] weeks vs 5.2 [2.6] weeks; P = .004), but the difference between the 100- and 200-mg groups was not statistically significant. A total of 55 patients (47.4%) relapsed after treatment. Relapse rates were comparable across groups. No patient discontinued treatment due to adverse effects. Treatment with the 200-mg dose incurred a 63% higher cost and 400 mg a 120% higher cost over 100 mg in achieving cure. Conclusions and Relevance: In this randomized clinical trial, high overall efficacy was observed among the 3 itraconazole doses for treatment of TCC, but with prolonged treatment durations and considerable relapse rates. Treatment with the 200- and 100-mg doses did not differ significantly in efficacy or treatment durations, while 400 mg scored over the other 2 on these outcomes. Considerable additional cost is incurred in achieving cure with the 200- and 400-mg doses. Trial Registration: Clinical Trials Registry of India Identifier: CTRI/2020/03/024326.

A Rare Case of Frontal Lobe Cavernous Malformation Mimicking Meningioma.

Cavernous venous malformations are benign vascular lesions that commonly occur in the brain parenchyma. These when present in the extra-axial or superficial cortical location can be mistaken for meningioma. Magnetic resonance imaging (MRI) can help in the detection and easy differentiation of the two entities and thus aid in preoperative diagnosis and preventing intraoperative complications. We present a case of an 18-year-old male patient suffering from seizures, which was initially diagnosed as meningioma. However, detailed evaluation with MRI raised a possibility of cavernous malformation and it was considered as a differential.

Multidrug resistant tinea corporis/cruris: Response to voriconazole.

The increasing worldwide resistance to terbinafine and older antifungal drugs, coupled with often erratic clinical responses to itraconazole, leaves dermatologists with limited options to deal with dermatophytic infections. Recalcitrant dermatophytoses has however, over past few years, become a significant public health issue, especially in India. In this context, we present a patient who failed four systemic antifungals sequentially and was subsequently cured with a 2 week course of voriconazole, an antifungal not routinely used for dermatophytoses as yet.

Predicting a therapeutic cut-off serum level of itraconazole in recalcitrant tinea corporis and cruris-A prospective trial.

BACKGROUND: With rising resistance to terbinafine, and consistently high MICs to fluconazole and griseofulvin, itraconazole is being increasingly used as a first line drug for tinea corporis/cruris. However, inadequate clinical responses are often seen with it in spite of in vitro susceptibility. This is possibly related to a variable pharmacokinetic profile of itraconazole. The drug serum levels associated with the therapeutic outcome have not been defined in dermatophytic infections. METHODS: Forty treatment naïve patients with tinea corporis/cruris were randomised to one of the three dose groups (100, 200 and 400 mg/day) of itraconazole. The drug serum levels of 21 of these patients were obtained after 2 weeks of treatment and correlated with the final clinical outcome and in vitro antifungal susceptibility data. RESULTS: Trichophyton indotineae was identified by sequencing of ITS region of rDNA and TEF1α. All isolates were sensitive to itraconazole (Minimum Inhibitory Concentration (MICs) range: 0.06-0.5 µg/ml), while MICs to terbinafine were uniformly high (range 8-32 µg/ml). Thirty-seven patients (92.5%) achieved complete cure, while three failed treatment. Serum levels achieved with 400 mg/day were significantly higher than levels with 100 or 200 mg dose. All patients with itraconazole serum levels of >0.2 µg/ml were cured, while two out of the 10 patients with serum levels <0.2 µg/ml failed treatment. CONCLUSIONS: Therapeutic failures are uncommon with itraconazole, and the prevalent strain in India has low itraconazole MICs. Treatment failure is likely with itraconazole serum levels of <0.2 µg/ml, while levels >0.2 µg/ml are consistently associated with a positive therapeutic outcome.

Severe type 2 leprosy reaction with COVID-19 with a favourable outcome despite continued use of corticosteroids and methotrexate and a hypothesis on the possible immunological consequences.

Type 2 leprosy reaction (T2LR), or Erythema Nodosum Leprosum (ENL), often poses a therapeutic challenge to clinicians and commonly requires long courses of steroids for control. While immunosuppressants are known to achieve control and lower steroid dependence in T2LR, the prospect of managing a severe T2LR in conjunction with COVID-19, with the concern of worsening COVID-19 with long-term immunosuppression has not previously been encountered. We report a case of severe T2LR treated with oral steroids and methotrexate, with COVID-19 infection acquired during hospital stay, and a favourable outcome achieved despite the continued use of immunosuppressants. We discuss the possible reasons for this both in terms of the drug pharmacodynamics and the immunological profile of T2LR.

Understanding and Practices of Gynaecologists Related to Breast Cancer Screening, Detection, Treatment and Common Breast Diseases: A Study from India.

BACKGROUND: The knowledge of breast cancer risk factors and screening practices in a community is largely influenced by the practising gynaecologist in that area. We assessed the understanding and knowledge of gynaecologists about breast cancer: screening, risk factors, clinical signs, management and common benign breast diseases. METHODOLOGY: This cross-sectional study was carried out in Uttar Pradesh, India, from April to September 2017. One hundred and fifty-two gynaecologists were assessed using a self-designed and validated questionnaire to assess the knowledge of risk factors, clinical signs, screening practices and management of breast cancer as well as common benign breast diseases. Further, the results were compared based on their education: undergraduates (UGs; no residency experience in obstetrics and gynaecology) versus postgraduates (PGs; residency experience in obstetrics and gynaecology). RESULTS: 67 and 82.2% of gynaecologists possess excellent to very good knowledge of risk factors and clinical signs of breast cancer, respectively. The knowledge of PGs seems to be better than UGs (p < 0.01). 84.9% participants were aware that breast cancer screening decreases breast cancer-related mortality, and 61.2% considered CBE as most relevant screening investigation (66.1% PGs and 41.9% UGs; p = 0.04). 30.2% regularly offer breast cancer screening at their centre. 58.5% did not consider screening mammography as cost-effective for their patients (57.9% PGs and 61.3% UGs; p = 0.72), and 41.4% considered it to be a time-consuming process (39.7% PGs and 48.4% UGs; p = 0.38). 99.3% like to follow up a patient with familial breast cancer by themselves, and 0.7% like to refer them to specialist. 51.9% gynaecologists were convinced of breast conservation surgery (BCS) as a surgical option, however 51.3% feared leaving diseased breast behind. CONCLUSION: Despite the knowledge regarding risk factors, clinical signs and treatment of breast cancer and benign breast diseases was found adequate amongst the gynaecologists, this did not apply to their clinical practice. Structured and continuous training of gynaecologists is needed to improve the outcome of patients with breast diseases in terms of better management and reference.

Physicochemical and Antioxidant Assays of Methanol and Hydromethanol Extract of Ariel Parts of Indigofera tinctoria Linn.

Free radicals or reactive oxygen indices give rise to oxidative injury, which is a fundamental mechanism underlying a number of disease like diabetes, cancer, neurodegenerative disorders. Deleterious effects of reactive oxygen species can be nullified by using different natural antioxidants derived from plants Indigofera tinctoria is such plant. This study was planned in order to trace and determine the antioxidant capability of Indigofera tinctoria. All the reagents and chemicals used in this study were obtained from reliable firms. The plant extracts were subjected to phytochemical screening, quantitative assays and antioxidant profiling. The results suggested that plant extracts contained all pharmacologically important phytoconstituents in appreciable amounts and having excellent antioxidant capabilities.