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Abstract Objective Human African trypanosomiasis (HAT) due to Trypanosoma brucei rhodesiense in East and southern Africa is reported to be clinically diverse. We tested the hypothesis that this clinical diversity is associated with a variation in trypanosome genotypes. Results Trypanosome DNA isolated from HAT patients was genotyped using 7 microsatellite markers directly from blood spotted FTA cards following a whole genome amplification. All markers were polymorphic and identified 17 multi-locus genotypes with 56% of the isolates having replicate genotypes. We did not observe any significant clustering between isolates and bootstrap values across major tree nodes were insignificant. When genotypes were compared among patients with varying clinical presentation or outcome, replicate genotypes were observed at both extremes showing no significant association between genetic diversity and clinical outcome. Our study shows that T. b. rhodesiense isolates are homogeneous within a focus and that observed clinical diversity may not be associated with parasite genetic diversity. Other factors like host genetics and environmental factors might be involved in determining clinical diversity. Our study may be important in designing appropriate control measures that target the parasite.

Cerebrotendinous xanthomatosis is a rare autosomal recessivedisorder of cholesterol and bile acid metabolism associated withthe sterol 27-hydroxylase gene CYP27A1. The disease is characterizedby a varying age of the onset, progressive course, and widerange of the neurological and extraneural symptoms. MRI of thebrain plays an important diagnostic role. Measurement of theserum cholestanol level and DNA analysis are verification methods.Timely started chenodeoxycholic acid replacement therapyenables slowing down the disease progression and, in some cases,preventing neurological disability. References

Once considered rare, nontuberculous mycobacterial (NTM) infections have garnered increasing attention in recent years. This comprehensive review provides insights into the epidemiology, clinical diversity, diagnostic methods, treatment strategies, prevention, and emerging research trends in NTM infections. Key findings reveal the global prevalence of NTM infections, their diverse clinical presentations affecting respiratory and extra-pulmonary systems, and the diagnostic challenges addressed by advances in microbiological, radiological, and immunological methods. Treatment complexities, especially drug resistance and patient adherence, are discussed, along with the vulnerability of special populations. The importance of early detection and management is underscored. Prospects in NTM research, including genomics, diagnostics, drug development, and multidisciplinary approaches, promise to enhance our understanding and treatment of these infections. This review encapsulates the multifaceted nature of NTM infections, offering a valuable resource for clinicians, researchers, and public health professionals., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Bhanushali et al.)

Hemoglobin E (HbE) is estimated to affect at least one million people around the world. Carrier frequency of hemoglobin E/β-thalassemia (HbE/β-thalassemia) is highest in Southeast Asia, reaching as high as 60% in parts of Thailand, Laos, and Cambodia. In the Indian subcontinent, highest frequency is observed in The Northeast regions, but relatively rare in rest of the country. Increasing migration of population from highly affected areas is resulting in rising prevalence in The South and other parts of India. HbE/β-thalassemia is characterized by marked clinical diversity, phenotypic instability, and age-related changes in adaptation to anemia. This paper reports a case of HbE disease in an adult immigrant from Assam and documents the difficulties encountered in the definitive subtyping of HbE hemoglobinopathy. Distinguishing between homozygous HbE disease and HbE/β-thalassemia is a challenge to hematopathologist as both are clinically and hematologically similar.

Trypanosoma brucei gambiense ( T. b. gambiense ) is the major causative agent of human African trypanosomiasis (HAT). A great variety of clinical outcomes have been observed in West African foci, probably due to complex host-parasite interactions. In order to separate the roles of parasite genetic diversity and host variability, we have chosen to precisely characterize the pathogenicity and virulence of T. b. gambiense field isolates in a mouse model. Thirteen T. b. gambiense strains were studied in experimental infections, with 20 Balb/C infected mice per isolate. Mice were monitored for 30 days, in which mortality, parasitemia, anemia, and weight were recorded. Mortality rate, prepatent period, and maximum parasitemia were estimated, and a survival analysis was performed to compare strain pathogenicity. Mixed models were used to assess parasitemia dynamics, weight, and changes in Packed Cell Volume (PCV). Finally, a multivariate analysis was performed to infer relationships between all variables. A large phenotypic diversity was observed. Pathogenicity was highly variable, ranging from strains that kill their host within 9 days to a non-pathogenic strain (no deaths during the experiment). Virulence was also variable, with maximum parasitemia values ranging from 42 million to 1 billion trypanosomes/ml. Reduced PCV and weight occurred in the first two weeks of the infection, with the exception of two strains. Finally, the global analysis highlighted three groups of strains: a first group with highly pathogenic strains showing an early mortality associated with a short prepatent period; a second group of highly virulent strains with intermediate pathogenicity; and a third group of isolates characterized by low pathogenicity and virulence patterns. Such biological differences could be related to the observed clinical diversity in HAT. A better understanding of the biological pathways underlying the observed phenotypic diversity could thus help to clarify the complex nature of the host-parasite interactions that determine the resistance/susceptibility status to T. brucei gambiense . [ABSTRACT FROM AUTHOR]

Objective: Human African trypanosomiasis (HAT) due to Trypanosoma brucei rhodesiense in East and southern Africa is reported to be clinically diverse. We tested the hypothesis that this clinical diversity is associated with a variation in trypanosome genotypes. Results: Trypanosome DNA isolated from HAT patients was genotyped using 7 microsatellite markers directly from blood spotted FTA cards following a whole genome amplification. All markers were polymorphic and identified 17 multi-locus genotypes with 56% of the isolates having replicate genotypes. We did not observe any significant clustering between isolates and bootstrap values across major tree nodes were insignificant. When genotypes were compared among patients with varying clinical presentation or outcome, replicate genotypes were observed at both extremes showing no significant association between genetic diversity and clinical outcome. Our study shows that T. b. rhodesiense isolates are homogeneous within a focus and that observed clinical diversity may not be associated with parasite genetic diversity. Other factors like host genetics and environmental factors might be involved in determining clinical diversity. Our study may be important in designing appropriate control measures that target the parasite. [ABSTRACT FROM AUTHOR]

This case report alerts to the existence of atypical forms of cutaneous leishmaniasis (CL). A woman with nodular cutaneous lesions over a neck with papules and pustules located deep in the hypodermis that formed plaques with subcutaneous induration and satellite papules was confirmed to have CL. After confirmation, the patient was treated with remission of the lesions, scarring and thickening of the skin.

Hemoglobin E (HbE) is estimated to affect at least one million people around the world. Carrier frequency of hemoglobin E/β-thalassemia (HbE/β-thalassemia) is highest in Southeast Asia, reaching as high as 60% in parts of Thailand, Laos, and Cambodia. In the Indian subcontinent, highest frequency is observed in The Northeast regions, but relatively rare in rest of the country. Increasing migration of population from highly affected areas is resulting in rising prevalence in The South and other parts of India. HbE/β-thalassemia is characterized by marked clinical diversity, phenotypic instability, and age-related changes in adaptation to anemia. This paper reports a case of HbE disease in an adult immigrant from Assam and documents the difficulties encountered in the definitive subtyping of HbE hemoglobinopathy. Distinguishing between homozygous HbE disease and HbE/β-thalassemia is a challenge to hematopathologist as both are clinically and hematologically similar. [ABSTRACT FROM AUTHOR]

Trypanosoma brucei gambiense (T. b. gambiense) is the major causative agent of human African trypanosomiasis (HAT). A great variety of clinical outcomes have been observed in West African foci, probably due to complex host-parasite interactions. In order to separate the roles of parasite genetic diversity and host variability, we have chosen to precisely characterize the pathogenicity and virulence of T. b. gambiense field isolates in a mouse model. Thirteen T. b. gambiense strains were studied in experimental infections, with 20 Balb/C infected mice per isolate. Mice were monitored for 30 days, in which mortality, parasitemia, anemia, and weight were recorded. Mortality rate, prepatent period, and maximum parasitemia were estimated, and a survival analysis was performed to compare strain pathogenicity. Mixed models were used to assess parasitemia dynamics, weight, and changes in Packed Cell Volume (PCV). Finally, a multivariate analysis was performed to infer relationships between all variables. A large phenotypic diversity was observed. Pathogenicity was highly variable, ranging from strains that kill their host within 9 days to a non-pathogenic strain (no deaths during the experiment). Virulence was also variable, with maximum parasitemia values ranging from 42 million to 1 billion trypanosomes/ml. Reduced PCV and weight occurred in the first two weeks of the infection, with the exception of two strains. Finally, the global analysis highlighted three groups of strains: a first group with highly pathogenic strains showing an early mortality associated with a short prepatent period; a second group of highly virulent strains with intermediate pathogenicity; and a third group of isolates characterized by low pathogenicity and virulence patterns. Such biological differences could be related to the observed clinical diversity in HAT. A better understanding of the biological pathways underlying the observed phenotypic diversity could thus help to clarify the complex nature of the host-parasite interactions that determine the resistance/susceptibility status to T. brucei gambiense., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Systemic sclerosis (SSc) is a multisystem connective tissue disease characterized by vascular damage with non-specific inflammation and progressive fibrosis. The disease exhibits a large heterogeneity in both clinical and serological features. This diversity refers to the course of the disease, which is difficult to predict in many cases. Although poor prognostic factors are well known, it is not always possible to predict the course of the disease and the prognosis. Furthermore, the activity of disease is difficult to assess since both reversible and irreversible lesions can occur in one patient. To date, numerous attempts have been made to assess the SSc activity. In 2017 the disease activity score was updated. Discrimination between an active phase of the disease and the disease with irreversible organ changes is of particular importance, when immunosuppressive treatment is considered, as this kind of therapy should be used in cases with active, reversible lesions. Moreover, while assessing the course of the disease, special attention is paid to the effects of serological markers on clinical symptoms and severity of the disease. Numerous ongoing studies focus on new serological biomarkers and their influence on internal organ involvement. This paper analyses our observations and presents literature review to determine the importance of various clinical and serological symptoms and their association with the course and the prognosis of SSc.

Purpose: Atopic dermatitis (AD) is a chronic eczematous dermatitis that has a high prevalence and diverse clinical features. Although several hypotheses about its multifactorial pathogenesis have been suggested, the cause is not yet fully understood. A better understanding of the clinical features may helpful inelucidating the pathogenesis of AD., Methods: This retrospective study analyzed the questionnaires, medical charts, and laboratory examination results of 5,000 patients diagnosed with AD at a single tertiary hospital in Korea., Results: The demographics, allergic comorbidities, family history, severity, and treatment experiences of the patients were analyzed. Most of the patients were adults, 76.3% of whom were classified as havingan extrinsic type of AD. The mean eczema area and severity index (EASI) score was found to be 13.68, and adult patients were found to have higher severity than the other age groups. The anatomical involvements were different among the age groups, with more involvements of the head and neck in adults. The patients reported seasonal changes and stress as the factors that aggravated their symptoms the most. Topical steroids and oral cyclosporine were the most used medications at our clinic, whereas 10.1% of the patients underwent allergen-specific immunotherapy., Conclusions: This analysis of 5,000 patients would lead to a better understanding of various subtypes and diverse clinical features of AD in Koreans. Distinct characteristics were observed among different age groups; thus, treatment strategies may need to be differentiated accordingly., Competing Interests: There are no financial or other issues that might lead to conflict of interest.

The article presents a case study of the Shy-Drager syndrome, a neurological disorder, in a 54-year-old male Chinese farmer. He had been suffering from impotency for five years, and fatigue, snoring and a bladder problem with a cycle of diarrhea and constipation for two years. Over investigations led to a delay in actual diagnosis and he passed away suddenly while undergoing a sleep apnea test.

This case report alerts to the existence of atypical forms of cutaneous leishmaniasis (CL). A woman with nodular cutaneous lesions over a neck with papules and pustules located deep in the hypodermis that formed plaques with subcutaneous induration and satellite papules was confirmed to have CL. After confirmation, the patient was treated with remission of the lesions, scarring and thickening of the skin.