Gaucher's Disease in an Adult Male: A Case Report of a Rare Mutation.

Gaucher's disease is a rare autosomal recessive inborn error of metabolism. As the presentation of this disease is similar to more common diseases like malaria, portal hypertension, hematological disorders, and kala-azar, this rare disease may not be thought of as a differential diagnosis, and a high index of suspicion is required to avoid diagnostic delay. We report a case of type 1 Gaucher's disease in an adult male born out of a consanguineous marriage. He was from a region where the prevalence of infectious diseases and sickle cell anemia is high. He presented with abdominal distension, hepatosplenomegaly, and pancytopenia. Bone marrow biopsy showed the presence of Gaucher cells. Glucocerebrosidase levels showed decreased enzyme activity. The genetic study revealed a very rare mutation that has not been reported in the 1000 Genomes database till now. Retrospectively, the most important clue was his birth out of a consanguineous marriage of his parents.

Efficacy of Oral, Topical, and Intradermal Tranexamic Acid in Patients with Melasma - A Meta-Analysis.

Background and Objective: Tranexamic acid (TXA) has recently shown promising results in the treatment of melasma. The objective of this study was to generate statistical evidence on the efficacy of TXA with different routes. Materials and Methods: We searched studies in PubMed, Cochrane, ClinicalTrials.gov, and Scopus using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. A change in melasma area and severity index (MASI)/modified MASI score from the baseline at the end of 8 and 12 weeks was seen. Inverse variance method was used for continuous data to measure standard mean difference (SMD) at a 95% confidence interval (CI). RevMan version 5.4 was used for analysis, and statistical heterogeneity across studies was reported using I2 statistics. P < 0.05 was considered significant. Results: Totally, 28 randomized control trials were included. At 8 weeks, oral TXA showed a significant change in SMD of 1.61, 95% CI 0.44-2.79, P = 0.007; at 12 weeks, oral TXA showed SMD of 2.39, 95% CI 1.42-3.35, P < 0.00001 compared to adjuvant treatment. At 8 weeks, topical TXA did not show a significant change with SMD of -0.05, 95% CI -1.08-0.97, P = 0.92; at 12 weeks, topical TXA did not show a significant change with SMD of 0.66, 95% CI -0.10-1.42, P = 0.09 compared to adjuvant treatment. Similarly, for intradermal TXA at 8 weeks, results were not significant with SMD of 1.21, 95% CI -0.41-2.83, P = 0.14, and at 12 weeks, SMD was -0.55, 95% CI -2.27-1.18, P = 0.54 compared to adjuvant treatment. Conclusion: Tranexamic acid in an oral formulation can be used along with adjuvant treatment for the management of melasma. Data are still required for topical and intradermal routes. Owing to the fact that our included studies had a lot of heterogeneity, more research is needed along with addressing the adverse effects of tranexamic acid as well as its variation in different skin colors.

Crimean-Congo Hemorrhagic Fever: An Emerging Viral Infection in India, Revisited and Lessons Learned.

Crimean-Congo hemorrhagic fever (CCHF) is a zoonotic disease caused by the CCHF virus. It was first recognized in 1944 in the Crimea region of the former Soviet Union and then was subsequently isolated in Congo, from a child with similar symptoms. Hence, the virus was termed the Crimean-Congo hemorrhagic fever virus. CCHF is an emerging disease with more than 1000 human cases being reported every year from South-Eastern Europe and Western Asia. The disease is endemic in Africa, the Balkans, the Middle East, and Asia, with an estimated 10,000 to 15,000 CCHF infections each year. The geographic range of the CCHF virus is most extensive among the tick-borne viruses that infect humans. The first outbreak of CCHF in India was described in 2011 in the state of Gujarat with four cases being reported. Since then, there have been sporadic cases in India occurring in small clusters with community and nosocomial spread. Here, we describe three cases that were treated at a tertiary care teaching hospital in the Gujarat state of India. All of them had nonspecific symptoms of viremia initially, followed by rapid deterioration of the general condition. Two of the three patients died. Because of its resemblance with other hemorrhagic fevers, diagnosis of CCHF remains a challenge, especially in non-endemic areas. We aim to sensitize the readers to this emerging arboviral disease because the virus is highly infectious and carries high mortality, and hence, it is crucial to suspect and diagnose the index case at the earliest.

Modified computed tomography severity index in evaluation of acute pancreatitis and its correlation with clinical outcome: A prospective observational study from a tertiary care teaching hospital, India.

Introduction: Acute pancreatitis (AP) is one of the most common yet, the most complex and challenging abdominal emergencies encountered by clinicians globally. It runs an unpredictable course. One-fifth of all AP patients develop complications. Many prognostic predictive scoring systems are used for AP. The aim of our study was to evaluate the usefulness of modified computed tomography severity index (MCTSI) scores to predict the need for intensive care unit (ICU) stay, complications, and mortality in patients of AP. Methodology: An observational, prospective study was conducted for 1 year. Fifty cases diagnosed as AP were included in this study. Contrast-enhanced computed tomography of the abdomen and pelvis was carried out in all patients. MCTSI was calculated according to CT findings. Patients' demographic details, clinical findings, duration of hospital stay, complications, and interventions were recorded. SPSS version 26.0 was used for statistical analysis. Results: A.total of 50 patients were enrolled in the study. The mean age was 43.34 years. Total hospital stay was 9.02 ± 6.47 days, mean ward stay was 6.08 ± 2.73, and mean ICU stay was 2.94 ± 4.7 days. Five deaths were reported. There was a significant correlation between the necessity of ICU admission and grade of pancreatitis. There is significant correlation with age and ICU stay (r = 0.344, P = 0.014), age and ward stay (r = -0.340, P = 0.016), total duration of hospital stay and MCTSI score (r = 0.742, P = 0.000), duration of ward stay and MCTSI score (r = -0.442, P = 0.001), and strong correlation with duration of ICU stay and MCTSI score (r = 0.869, P = 0.000). A higher MCTSI score was significantly associated with the presence of local as well as systemic complications and with death (P = 0.0001). Conclusion: Grading by modified CT severity index has a significant direct correlation with the necessity of ICU admission, duration of ICU stay, and total duration of hospital stay. A modified CT severity index can be used to predict the possibility of developing local and systemic complications as well as the need for interventions. Modified CTSI is a reliable predictor of clinical course and outcome in cases of acute pancreatitis.

Résumé Introduction: La pancréatite aiguë (PA) est l'une des urgences abdominales les plus courantes, les plus complexes et les plus difficiles rencontrées par les cliniciens du monde entier. Il suit un cours imprévisible. Un cinquième de tous les patients AP développent des complications. De nombreux scores pronostiques prédictifs systèmes sont utilisés pour AP. Le but de notre étude était d'évaluer l'utilité de l'indice de gravité de la tomodensitométrie modifiée (MCTSI) scores pour prédire le besoin de séjour en unité de soins intensifs (USI), les complications et la mortalité chez les patients atteints de PA. Méthodologie: Une observation, Une étude prospective a été menée pendant 1 an. Cinquante cas diagnostiqués comme AP ont été inclus dans cette étude. Tomodensitométrie à contraste amélioré de l'abdomen et du bassin a été réalisée chez tous les patients. Le MCTSI a été calculé en fonction des résultats de la TDM. Données démographiques des patients, les résultats cliniques, la durée du séjour à l'hôpital, les complications et les interventions ont été enregistrés. La version SPSS 26.0 a été utilisée pour l'analyse statistique. Résultats: Au total, 50 patients ont participé à l'étude. L'âge moyen était de 43,34 ans. Le séjour total à l'hôpital était de 9,02 ± 6,47 jours, en moyenne le séjour était de 6,08 ± 2,73 et le séjour moyen en USI était de 2,94 ± 4,7 jours. Cinq décès ont été signalés. Il y avait une corrélation significative entre la nécessité d'admission en USI et grade de pancréatite. Il existe une corrélation significative avec l'âge et le séjour en USI (r = 0,344, P = 0,014), l'âge et séjour en salle (r = −0,340, P = 0,016), durée totale du séjour à l'hôpital et score MCTSI (r = 0,742, P = 0,000), durée du séjour en salle et MCTSI score (r = -0,442, P = 0,001) et forte corrélation avec la durée du séjour en USI et le score MCTSI (r = 0,869, P = 0,000). Un score MCTSI plus élevé était significativement associée à la présence de complications locales et systémiques et au décès (P = 0,0001). Conclusion: classement par l'indice de gravité CT modifié a une corrélation directe significative avec la nécessité d'une admission en USI, la durée du séjour en USI et la durée totale de séjour à l'hôpital. Un indice de gravité CT modifié peut être utilisé pour prédire la possibilité de développer des complications locales et systémiques ainsi que le besoin d'interventions. Le CTSI modifié est un prédicteur fiable de l'évolution clinique et des résultats dans les cas de pancréatite aiguë. Mots-clés: pancréatite aiguë, admission en unité de soins intensifs, complications locales et systémiques, gravité de la tomodensitométrie modifiée indice, pronostic.

Nipple Adenoma: Case Report of a Rare Entity.

A nipple adenoma is a rare benign breast tumor. The commonest presentation of this rare entity is nipple erosion, serosanguinous discharge, induration, or tumor formation at the nipple. It often mimics malignant breast lesions or nipple eczema and is mistaken for Paget's disease of the nipple or dermatological pathology. It may be misdiagnosed pathologically as ductal carcinoma of the breast. This may cause a diagnostic delay or a faulty diagnosis. Treatment is the excision of the tumor with or without nipple excision. Here, we report a case of nipple adenoma that projected out of the nipple along with nipple erosion, serosanguinous discharge, and occasional bleeding from the adenoma. A 37- year-old woman presented with a tumor on her right nipple for eight months, with the erosion of the nipple and serosanguinous discharge. The patient gave a history of a small amount of bleeding occasionally. Axilla was normal. The patient was advised to have a mammosonography. It showed an oval-shaped, well-demarcated, hypoechoic, uniformly solid nodule in the right nipple. There was no microcalcification seen on mammography. A punch biopsy was done to establish the diagnosis. It showed ductal hyperplasia and papillary proliferation of glandular structures suggestive of nipple adenoma. Complete resection of the tumor with partial excision of the nipple was done with a satisfactory cosmetic result. Though very uncommon, the possibility of nipple adenoma should be thought of when a patient presents with nipple erosion and discharge with or without a clinically obvious tumor. Timely diagnosis with histopathological correlation is important since it allows for less invasive surgical methods. In our case, we could attain a cosmetically satisfactory outcome without a remnant tumor. Paget's disease of the nipple also has a similar clinical presentation, and it is a premalignant condition. The objective of presenting this case is to highlight the possibility of this rare benign condition, which may be easily missed clinically and also demands careful histopathological examination for its correct diagnosis.