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Homocystinuria follows an autosomal recessive pattern and transpires due to Cystathionine beta-synthase enzyme deficiency. This condition is associated with thrombotic and thromboembolic complications due to an increase in homocysteine and methionine levels in the plasma and urine. We present a case of an Indian adolescent boy who presented to us with generalized tonic clinic seizure and Broca's aphasia he was diagnosed as having homocystinuria type 1, and he responded well to treatment.Background: Stroke and seizure disorders in young adults have increased substantially and are a relatively common disorder that presents in the emergency department in all age groups. Secondary seizures are more common and manifest as a result of another underlying pathology. This case demonstrates the importance of considering rarer causes of thrombosis such as arterial thrombosis, even in younger patients, with no obvious risk factors or comorbidities. A detailed medical history and thorough investigations need to be taken to identify a potentially treatable underlying cause.Objective: To increase awareness about this rare etiology and help clinicians to have a higher level of suspicion to diagnose this condition and prevent future life-threatening complications in younger patients with thrombotic and thromboembolic events.  Â

BackgroundSevere Corona virus disease (COVID-19) is associated with high mortality. Although single centre intensive care units (ICU) have reported clinical characteristics and outcomes, no large scale multicentric study from India has been published. The present retrospective, multi-centre study was aimed to describe the predictors and outcomes of COVID-19 patients requiring ICU admission from COVID-19 Registry of Indian council of Medical Research (ICMR), India.MethodsProspectively collected data from multiple participating institutions was entered in the electronic National Clinical Registry of COVID 19. We enrolled patients aged>18 years with COVID-19 pneumonia requiring ICU admission between March 2020 and August 2021. Exclusion criteria were negative RT PCR, death within 24 hours of ICU admission, or patients with incomplete data in the registry Their demographic characteristics, laboratory variables, ICU severity indices, treatment strategies and outcomes were analysed.ResultsA total of 5865 patients, with mean age 56±15 years, with 3840/5865 (65.4%) men, were enrolled in the ICMR registry.. Overall mortality was 2535/5865 (43.5%). Non-survivors were older than survivors (58.2±15.4 years vs 53.6 ±14.7 years; P=0.001). Non-survivors had multiple comorbidities (n=1951, 52.9%) with hypertension (47.2%) and diabetes (45.6%) being the most common, higher creatinine (1.6 ± P=0.001, high D-dimer (1.56 vs 1.37, P=0.001), higher CT severity index (16.8±5.2 vs 13.5 ±5.47 ) compared to survivors. Non survivors had longer hospital and ICU stay (P=0.001). On multivariate regression analysis, high NLR (HR 1.017, 95% CI 1.005- 1.029, P=0.001), high CRP (HR 1.008, 95% CI 1.006- 1.010, P=0.001), high D dimer ((HR 1.089, 95% CI 1.065- 1.113, P=0.001) were associated with mechanical ventilation while younger age, (HR 0.974, CI 0.965-0.983, p=0.001), high D dimer (HR-1.014, CI 1.001-1.027, P=0.035) and use of prophylactic LMWH (HR 0.647, CI 0.527-0.794, p=0.001) were independently associated with mortality. ConclusionIn this large retrospective study of 5865 critically ill COVID 19 patients admitted to ICU, overall mortality was 2535/5865 (43.5%). Age, high D dimer, CT Severity score and use of prophylactic LMWH were independently associated with mortality.

Background: Enteric fever is an endemic health problem and frequently associated with outbreaks. Objectives: Investigate sudden surge in gastroenteritis cases to confirm the outbreak, describe it in terms of time place and person, identify source of infection, modes of transmission and suggest remedial measures. Material & Methodology: Field visit was undertaken by the rapid response team (RRT) at Borsad town of Anand district in Gujarat for investigating suspected typhoid outbreak. This involved gathering information from local authorities, hospital admissions and home visits; collection of blood samples and water samples. Result: Of 30 suspected cases, 19 (63.3%) tested Widal positive. Common presenting symptoms were fever, vomiting followed by diarrhea and abdominal pain. Chlorine levels at source and end users were inadequate. 5 leakage points in water supply were identified in areas around the clustered cases. Conclusion and Recommendations: Leakage in piped water supply coupled with inadequate chlorination lead to contaminated drinking water and subsequent Typhoid epidemic. Corrective steps in form of rapid surveys to identify cases, household chlorination and appropriate engineering measures were recommended and implemented.

Thyrotoxic periodic paralysis is a unique disorder that causes episodic proximal lower extremity muscle weakness in a patient who already has a hyperthyroid state and is not treated for the underlying disease state. The affected population mostly includes Asian in origin specifically the male gender (vs most thyroid disorder affects the women gender). Precipitating factors include in addition to a hyperthyroid state are strenuous exertion, a high-carbohydrate meal, and drugs like diuretics, insulin, high dose of steroids, antiretrovirals, and interferon therapy. Other genetic causes include the decreased activity of Kir2.6 mutation increased activity of Na+/K+ ATPase causing an intracellular shift of potassium that leads to hypokalaemia. The other challenging part for the physician is to differentiate it from Familial periodic paralysis an autosomal disorder seen in Caucasians and Western countries because both the disorders present similarly and differentiate between them by the presence of hyperthyroid state with hypokalaemia in Thyrotoxic periodic paralysis. The mortality is associated with respiratory paralysis hence the acute intervention includes giving nonselective beta-blockers followed by anti-thyroid medications. We present a case of an Indian adolescent who presented to us with lower muscle weakness with an underlying thyrotoxicosis state. This help physician with early diagnosis and appropriate treatment.  Â

Background The multi-morbid burden and use of systemic immunosuppressants in people with psoriasis may confer greater risk of adverse COVID-19 outcomes but data are limited. Objective Characterize the course of COVID-19 in psoriasis and identify factors associated with hospitalization. Methods Clinicians reported psoriasis patients with confirmed/suspected COVID-19 via an international registry, PsoProtect. Multiple logistic regression assessed the association between clinical/demographic characteristics and hospitalization. A separate patient-facing registry characterized risk-mitigating behaviours. Results Of 374 clinician-reported patients from 25 countries, 71% were receiving a biologic, 18% a non-biologic and 10% no systemic treatment for psoriasis. 348 (93%) fully recovered from COVID-19, 77 (21%) were hospitalized and nine (2%) died. Increased hospitalization risk was associated with older age (multivariable-adjusted OR 1.59 per 10 years, 95% CI 1.19-2.13), male sex (OR 2.51, 95% CI 1.23-5.12), non-white ethnicity (OR 3.15, 95% CI 1.24-8.03) and comorbid chronic lung disease (OR 3.87, 95% CI 1.52-9.83). Hospitalization was more frequent in patients using non-biologic systemic therapy than biologics (OR 2.84, 95% CI 1.31-6.18). No significant differences were found between biologic classes. Independent patient-reported data (n=1,626 across 48 countries) suggested lower levels of social isolation in individuals receiving non-biologic systemic therapy compared to biologics (OR 0.68, 95% CI 0.50-0.94). Conclusion In this international moderate-severe psoriasis case series, biologics use was associated with lower risk of COVID-19-related hospitalization than non-biologic systemic therapies, however further investigation is warranted due to potential selection bias and unmeasured confounding. Established risk factors (being older, male, non-white ethnicity, comorbidities) were associated with higher hospitalization rates. Clinical Implications We identify risk factors for COVID-19-related hospitalization in psoriasis patients, including older age, male sex, non-white ethnicity and comorbidities. Use of biologics was associated with lower hospitalization risk than non-biologic systemic therapies., Capsule summary: In this global registry-based study, risk factors for COVID-19-related hospitalization in psoriasis patients were older age, male sex, non-white ethnicity and comorbidities. Use of biologics was associated with lower hospitalization risk than non-biologic systemic treatment.