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Short telomere syndrome (STS) is a group of rare, often underrecognized, diseases caused by defects in telomere-maintenance genes, leading to abnormal telomere shortening and associated with diverse multi-organ manifestations. In pediatric patients, STS typically presents with mucocutaneous or gastrointestinal lesions, bone marrow failure and neoplasia. In adulthood, aplastic bone marrow disease, liver disease and pulmonary fibrosis are classic clinical manifestations. At present, medical treatment options for STS remain limited. Danazol, a synthetic androgenic hormone, can slow down telomere shortening and thus limit the progression of the disease. Finally, hematopoietic, hepatic and pulmonary transplantation, sometimes combined, may be discussed in a multidisciplinary setting in certain situations.

Resumen: Describimos un caso de encefalitis asociada a infección por astrovirus bovino neurotrópico en una vaca lechera, raza Jersey, del departamento de San José, Uruguay. Este representa el segundo caso reportado de esta condición en el hemisferio sur. La vaca, únicaafectada de un rodeo de 70 bovinos, manifestó signos clínicos neurológicos con curso de 2 días, luego de los que murió espontáneamente. El examen histopatológico reveló meningoencefalitis linfocítica, histiocítica y plasmacítica, con necrosis neuronal, sin cuerpos de inclusión. No sedetectaron en el cerebro otros agentes infecciosos, incluyendo el virus de la rabia (Lyssavirus), alfaherpesvirus bovino-1 y alfaherpesvirus bovino-5 (Varicellovirus), virus de la diarrea viral bovina (Pestivirus), virus del Nilo Occidental (Flavivirus), Listeria monocytogenes, Histophilus somni y otras bacterias. Dado que el descubrimiento de astrovirus neurotrópicos en varias especies de mamíferos, incluidos humanos, es reciente, proponemos que los casos de encefalitis por astrovirus pudieron haber pasado inadvertidos en Sudamérica. Discutimos brevementeel diagnóstico patológico diferencial de encefalitis infecciosas en bovinos. bstract We describe a case of neurotropic bovine astrovirus-associated encephalitis in a Jersey dairy cow from the department of San José, Uruguay. This represents the second case of thiscondition reported in the Southern Hemisphere. The cow was the only one affected in a herd of 70 cows, showing neurological signs with a 2-day clinical course, before dying spontaneously. Histopathological examination revealed lymphocytic, histiocytic, and plasmacytic meningoencephalitis with neuronal necrosis, without detectable inclusion bodies. Other infectious agents, including Rabies virus (Lyssavirus), Bovine alphaherpesvirus-1 and Bovine alphaherpesvirus-5 (Varicellovirus), Bovine viral diarrhea virus (Pestivirus), West Nile virus (Flavivirus), Listeria monocytogenes, Histophilus somni and other bacteria, were not detected in the brain. We propose that given the recent discovery of neurotropic astroviruses in various mammalian species, including humans, cases of astrovirus encephalitis may have gone undetected in South America.We briefly discuss the differential pathologic diagnosis of infectious bovine encephalitis.Abstract We describe a case of neurotropic bovine astrovirus-associated encephalitis in a Jersey dairy cow from the department of San José, Uruguay. This represents the second case of this condition reported in the Southern Hemisphere. The cow was the only one affected in a herd of 70 cows, showing neurological signs with a 2-day clinical course, before dying spontaneously. Histopathological examination revealed lymphocytic, histiocytic, and plasmacytic meningoencephalitis with neuronal necrosis, without detectable inclusion bodies. Other infectious agents,including Rabies virus (Lyssavirus), Bovine alphaherpesvirus-1 and Bovine alphaherpesvirus-5 (Varicellovirus), Bovine viral diarrhea virus (Pestivirus), West Nile virus (Flavivirus), Listeriamonocytogenes, Histophilus somni and other bacteria, were not detected in the brain. We propose that given the recent discovery of neurotropic astroviruses in various mammalian species,including humans, cases of astrovirus encephalitis may have gone undetected in South America.We briefly discuss the differential pathologic diagnosis of infectious bovine encephalitis.© 2021 Asociacion´ Argentina de Microbiolog´?a

Dementia and cognitive disorders are major aging-associated pathologies. The prevalence and severity of these conditions are influenced by both genetic and environmental factors. Reflecting this, epigenetic alterations have been associated with each of these processes, especially at the level of DNA methylation, and such changes may help explain the observed inter-individual variability in the development of the two pathologies. However, the importance of epigenetic alterations in explaining their aetiology is unclear because little is known about the timing of when they appear. Here, using Illumina MethylationEPIC arrays, we have longitudinally analysed the peripheral blood methylomes of cognitively healthy older adults (> 70 yr), some of whom went on to develop dementia while others stayed healthy. We have characterized 34 individuals at the pre-diagnosis stage and at a 4-year follow-up in the post-diagnosis stage (total n = 68). Our results show multiple DNA methylation alterations linked to dementia status, particularly at the level of differentially methylated regions. These loci are associated with several dementia-related genes, including PON1, AP2A2, MAGI2, POT1, ITGAX, PACSIN1, SLC2A8 and EIF4E. We also provide validation of the previously reported epigenetic alteration of HOXB6 and PM20D1. Importantly, we show that most of these regions are already altered in the pre-diagnosis stage of individuals who go on to develop dementia. In conclusion, our observations suggest that dementia-associated epigenetic patterns that have specific biological features are already present before diagnosis, and thus may be important in the design of epigenetic biomarkers for disease detection based on peripheral tissues. © The Author(s) 2022. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

RESUMEN:La fiebre Q es una zoonosis distribuida mundialmente, causada por Coxiella burnetii. Los bovinos, ovinos y caprinos son la fuente más frecuente de infección en humanos, en los que la enfermedad es de notificación obligatoria ante el Ministerio de Salud Pública. Revisamos las publicaciones que describen casos de fiebre Q en humanos en Uruguay, con foco en sus características epidemiológicas, y discutimos las pruebas diagnósticas disponibles localmente. Se incluyeron nueve trabajos publicados e información del registro de enfermedades profesionales. Colectivamente fueron analizadas 2.715 personas con sospecha de fiebre Q entre 1956-2019, siendo 959 (35,3%) seropositivas. Los diagnósticos se basaron en serología, clínica y/o antecedentes de exposición laboral. Epidemiológicamente, el ganado o material proveniente del mismo fueron considerados las fuentes más probables de exposición en la mayoría de los casos. Según el ámbito de ocurrencia, no sistemáticamente reportado, los casos se registraron principalmente por exposición a ovinos y bovinos en frigoríficos o en la cadena cárnica (positivos/evaluados: 863/1540; seropositivos sintomáticos: 585); y en menor medida a bovinos lecheros (sector lácteo (positivos/evaluados:20/58; seropositivos sintomáticos: 17) y laboratorio diagnóstico (positivos/evaluados:2/4; seropositivos sintomáticos: 1)), o rumiantes silvestres (seropositivos/evaluados:25/117; seropositivos sintomáticos: 17). Hipertermia, cefaleas y sudoración fueron reportados. La inhalatoria fue asumida como la vía de infección en todos los casos. Actualmente no están disponibles localmente pruebas de PCR para detección de C. burnetii en humanos, siendo una limitante en el diagnóstico, particularmente en etapas tempranas. La colaboración interdisciplinaria de profesionales de salud humana y animal es esencial en el abordaje de esta zoonosis.SUMMARY:Q fever is a globally distributed zoonosis caused by the bacteria Coxiella burnetii. Bovines, sheep and goats are the most frequent source of infection in humans, and it is mandatory for the latter to report the disease to the Ministry of Public Health. We reviewed the literature describing cases of Q fever in humans in Uruguay, focusing on epidemiological characteristics, and we discussed the diagnostic tests locally available. Nine published studies were included in the review, as well as the information in the professional diseases registry. 2.715 people with a suspicion of Q fever were collectively analyzed between 1956-2019, 959 (55.3%) of them being seropositive. Diagnosis were based on serology, clinical examination and/or a history of exposure while working. Epidemiologically, the cattle or material originating in it were considered as the most probable sources of exposure in most cases. Depending on the context cases arose, which were not systematically reported, they were mainly caused by exposure to sheep and cows in meat processing plants or in the meat chain (positive/evaluated: 863/1540; seropositive or symptomatic: 585); and to a lesser extent dairy cattle (milk sector (positive/evaluated: 20/58; symptomatic seropositive: 17) and diagnostic laboratory (positive/evaluated: 2/4; symptomatic seropositive: 1)) or wild ruminants (positive/evaluated: 25/117; symptomatic seropositive: 17). Hyperthermia, headaches and sweating were reported. In all cases inhalation was adopted as the source of infection. Today, there are no PCR tests to detect C. burnetii in humans available locally, what constitutes a limitation to diagnosis, in particular in early stages. Interdisciplinary collaboration between animal and human health professionals is key to approach this zoonosis.RESUMO: A febre Q é uma zoonose mundial causada por Coxiella burnetii. Bovinos, ovinos e caprinos são a fonte mais frequente de infecção em humanos, nos quais a doença é de notificação compulsória ao Ministério da Saúde Pública. Revisamos as publicações que descrevem casos de febre Q em humanos no Uruguai, enfocando em suas características epidemiológicas, e discutimos os testes diagnósticos disponíveis localmente. Foram incluídos nove trabalhos publicados e informações do registro de doenças ocupacionais. Foram analisadas 2.715 pessoas com suspeita de febre Q entre 1956-2019, das quais 959 (35,3%) eram soropositivas. Os diagnósticos foram baseados na sorologia, sintomas e/ou história de exposição ocupacional. Do ponto de vista epidemiológico, o gado ou material preveniente de gado foram considerados as fontes mais prováveis de exposição na maioria dos casos. De acordo com o lugar de ocorrência, não notificado sistematicamente, os casos foram registrados principalmente por exposição a ovinos e bovinos em matadouros ou na cadeia da carne (positivos/avaliados: 863/1540; soropositivos sintomáticos: 585); e em menor proporção gado leiteiro (setor leiteiro (positivo/avaliado: 20/58; soropositivo sintomático: 17) e laboratório de diagnóstico (positivo/avaliado: 2/4; soropositivo sintomático: 1)), ou ruminantes silvestres (soropositivo/avaliado: 25/117; soropositivos sintomáticos: 17). Hipertermia, dores de cabeça e sudorese foram relatados. A inalação foi assumida como via de infecção em todos os casos. Atualmente, os testes de PCR para detecção de C. burnetii em humanos não estão disponíveis localmente, sendo uma limitação no diagnóstico, principalmente em estágios iniciais. A colaboração interdisciplinar de profissionais de saúde humana e animal é essencial no enfrentamento dessa zoonose.

INTRODUCTION: Gilles de La Tourette Syndrome (GTS) is a complex neuropsychiatric disorder characterized by motor and vocal tics, with a significant impact on patient���s quality of life. The overlap between the neurobiological mechanisms, comorbidities and the search for a symptom relief are among the factors that make these patients vulnerable for the use of substances. OBJECTIVES: Regarding a detailed description of a clinical case, to carry out a review and reflection on the possible relationships between the GTS and substance use. METHODS: Description of a clinical case of a patient diagnosed with GTS and comorbid substance use. A non-systematic literature review was carried out through bibliographical research in the databases ��� Pubmed and Clinical Key ��� using the keywords: ���Tourette Syndrome���; ���Substance Abuse���; ���Cocaine Abuse��� and ���Cannabinoid Abuse���. No restrictions were applied to the publication date of the researched articles. RESULTS: A clinical case of a patient with GTS diagnosed at age 11 is reported. A condition of severe and refractory symptomatology, characterized by motor and vocal tics, obsessive-compulsive symptoms and attention deficit. A path marked by countless hospitalizations and pharmacological approaches without results, requiring the use of neuromodulation strategies. Concomitantly with the picture described, there is a beginning of cannabinoid use at 25 years old, described by the patient as self-medication and later cocaine, at 29 years old, a consumption that she continues to this day. Patients with GTS are particularly vulnerable to substance use, which have deleterious effects on their symptoms, namely cocaine, amphetamines and heroin. However, substances such as cannabinoids, often used as self-medication, are reported by patients as having a beneficial effect on motor and vocal tics and are currently proposed as a possible therapy in GTS. DISCUSSION AND CONCLUSION: The tendency for using substances in GTS patients and its negative effect on symptoms, joins the positive effect described in relation with substances such as cannabinoids. Regarding a complex clinical case, a holistic approach becomes demanding, in which the risk of consumption should be kept in mind, but also the possible positive effects regarding some substances. These considerations can contribute to the development of new therapeutics in GTS syndrome., Psicosom��tica y Psiquiatr��a, N��m. 19 (2021): octubre-noviembre-diciembre

Autoimmune hepatitis is a rare disease which can present as acute or chronic forms and can be difficult to diagnose due to its variable clinical presentation. The disease arises in genetically susceptible individuals and several triggers have been identified. The diagnosis is based on the presence of autoantibodies, elevated transaminases and serum immunoglobulin G levels as well as a compatible histology. First-line immunosuppressive treatment strategies lead to clinical remission in most patients. In case of non-response, second-line therapies can be used and in case of hepatocellular insufficiency, liver transplantation remains an excellent option.

ObjectiveKnowledge on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in liver transplant recipients is lacking, particularly in terms of severity of the disease. The aim of this study was to describe the demographic, baseline clinical characteristics and early outcomes of a European cohort of liver transplant recipients with SARS-CoV-2 infection.DesignWe conducted an international prospective study across Europe on liver transplant recipients with SARS-CoV-2 infection confirmed by microbiological assay during the first outbreak of COVID-19 pandemic. Baseline characteristics, clinical presentation, management of immunosuppressive therapy and outcomes were collected.Results57 patients were included (70% male, median (IQR) age at diagnosis 65 (57–70) years). 21 (37%), 32 (56%) and 21 (37%) patients had one cardiovascular disease, arterial hypertension and diabetes mellitus, respectively. The most common symptoms were fever (79%), cough (55%), dyspnoea (46%), fatigue or myalgia (56%) and GI symptoms (33%). Immunosuppression was reduced in 22 recipients (37%) and discontinued in 4 (7%). With this regard, no impact on outcome was observed. Forty-one (72%) subjects were hospitalised and 11 (19%) developed acute respiratory distress syndrome. Overall, we estimated a case fatality rate of 12% (95% CI 5% to 24%), which increased to 17% (95% CI 7% to 32%) among hospitalised patients. Five out of the seven patients who died had a history of cancer.ConclusionIn this European multicentre prospective study of liver transplant recipients, COVID-19 was associated with an overall and in-hospital fatality rate of 12% (95% CI 5% to 24%) and 17% (95% CI 7% to 32%), respectively. A history of cancer was more frequent in patients with poorer outcome.