Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Human inborn errors of immunity (IEI) comprise a group of diseases resulting from molecular variants that compromise innate and adaptive immunity. Clinical features of IEI patients are dominated by susceptibility to a spectrum of infectious diseases, as well as autoimmune, autoinflammatory, allergic, and malignant phenotypes that usually appear in childhood, which is when the diagnosis is typically made. However, some IEI patients are identified in adulthood due to symptomatic delay of the disease or other reasons that prevent the request for a molecular study. The application of next-generation sequencing (NGS) as a diagnostic technique has given rise to an ever-increasing identification of IEI-monogenic causes, thus improving the diagnostic yield and facilitating the possibility of personalized treatment. This work was a retrospective study of 173 adults with IEI suspicion that were sequenced between 2005 and 2023. Sanger, targeted gene-panel, and whole exome sequencing were used for molecular diagnosis. Disease-causing variants were identified in 44 of 173 (25.43%) patients. The clinical phenotype of these 44 patients was mostly related to infection susceptibility (63.64%). An enrichment of immune dysregulation diseases was found when cohorts with molecular diagnosis were compared to those without. Immune dysregulation disorders, group 4 from the International Union of Immunological Societies Expert Committee (IUIS), were the most prevalent among these adult patients. Immune dysregulation as a new item in the Jeffrey Model Foundation warning signs for adults significantly increases the sensitivity for the identification of patients with an IEI-producing molecular defect.

Impact of immunosuppression regimen on COVID-19 mortality in kidney transplant recipients: Analysis from a Colombian transplantation centers registry / Impacto de los esquemas de inmunosupresión en la mortalidad por COVID-19 en receptores de trasplante renal: análisis en centros de trasplante renal en Colombia

Backgroung The impact of immunosuppression in solid organ transplant recipients with SARS-CoV-2 infection is unknown. The knowledge about the behavior of different immunosuppression schemes in clinical outcomes is scarce. This study aimed to determine the risk of death in kidney transplant recipients with COVID-19 under two different schemes of immunosuppression. Methods We describe our experience in kidney transplant recipients with SARS-CoV-2 infection in seven transplant centers during the first year of the pandemic before starting the vaccination programs in the city of Bogotá. Demographic characteristics, clinical presentation, immunosuppression schemes at presentation, and global treatment strategies were compared between recovered and dead patients; survival analysis was carried out between calcineurin inhibitors based regimen and free calcineurin inhibitors regimen. Results Among 165 confirmed cases, 28 died (17%); the risk factors for mortality identified in univariate analysis were age older than 60 years (p=.003) diabetes (p=.001), immunosuppression based on calcineurin inhibitors (CNI) (p=.025) and patients receiving steroids (p=.041). In multivariable analysis, hypoxemia (p=.000) and calcineurin inhibitors regimen (p=.002) were predictors of death. Survival analysis showed increased mortality risk in patients receiving CNI based immunosuppression regimen vs. CNI free regimens mortality rates were, respectively, 21.7% and 8.5% (p=.036). Conclusions Our results suggest that the calcineurin inhibitors probably do not provide greater protection compared to calcineurin inhibitor free schemes being necessary to carry out analyzes that allow us to evaluate the outcomes with different immunosuppression schemes in solid organ transplant recipients with SARS-CoV-2 infection (AU)

Introducción El impacto de los diferentes esquemas de inmunosupresión en receptores de trasplante de órganos sólidos es desconocido. El conocimiento del comportamiento de la enfermedad bajo diferentes esquemas de inmunosupresión es escaso. Nuestra experiencia intenta determinar el riesgo de muerte en receptores de trasplante renal con COVID-19 bajo dos esquemas diferentes de inmunosupresión. Métodos Describimos la experiencia en receptores de trasplante renal con infección por SARS-CoV-2 en siete centros de trasplante renal en la ciudad de Bogotá, durante el primer año de pandemia y previo al inicio de los programas de vacunación. Las características demográficas, la presentación clínica, los esquemas de inmunosupresión y las estrategias de tratamiento fueron comparadas entre pacientes recuperados y fallecidos, un análisis de sobrevida fue llevado a cabo entre esquemas basados en inhibidores de calcineurina y esquemas libres de inhibidores de calcineurina. Resultados Entre los 165 casos confirmados, 28 murieron (17%), los factores de riesgo identificados para mortalidad en el análisis univariado fueron: edad mayor de 60 años, diabetes, un esquema de inmunosupresión basado en inhibidores de calcineurina y pacientes recibiendo esteroides en el momento del diagnóstico. En el análisis multivariado, la presencia de hipoxemia en el momento del diagnóstico (p = 0,000) y un esquema de inmunosupresión basado en inhibidores de calcineurina (p = 0,002) fueron predictores independientes de mortalidad. El análisis de sobrevida encontró un riesgo mayor de mortalidad en pacientes bajo esquemas de inmunosupresión con inhibidores de calcineurina vs. aquellos libres de inhibidores de calcineurina, con tasas de mortalidad respectivas en 21,7 y 8,5% (p = 0,036). Conclusiones Nuestros resultados sugieren que los inhibidores de calcineurina no aportan mayor protección en pacientes con trasplante renal y COVID-19 en comparación con esquemas libres de inhibidores de calcineurina (AU)

Impact of immunosuppression regimen on COVID-19 mortality in kidney transplant recipients: Analysis from a Colombian transplantation centers registry.

BACKGROUND: The impact of immunosuppression in solid organ transplant recipients with SARS-CoV-2 infection is unknown. The knowledge about the behavior of different immunosuppression schemes in clinical outcomes is scarce. This study aimed to determine the risk of death in kidney transplant recipients with COVID-19 under two different schemes of immunosuppression. METHODS: We describe our experience in kidney transplant recipients with SARS-CoV-2 infection in seven transplant centers during the first year of the pandemic before starting the vaccination programs in the city of Bogotá. Demographic characteristics, clinical presentation, immunosuppression schemes at presentation, and global treatment strategies were compared between recovered and dead patients; survival analysis was carried out between calcineurin inhibitors based regimen and free calcineurin inhibitors regimen. RESULTS: Among 165 confirmed cases, 28 died (17%); the risk factors for mortality identified in univariate analysis were age older than 60 years (p=.003) diabetes (p=.001), immunosuppression based on calcineurin inhibitors (CNI) (p=.025) and patients receiving steroids (p=.041). In multivariable analysis, hypoxemia (p=.000) and calcineurin inhibitors regimen (p=.002) were predictors of death. Survival analysis showed increased mortality risk in patients receiving CNI based immunosuppression regimen vs. CNI free regimens mortality rates were, respectively, 21.7% and 8.5% (p=.036). CONCLUSIONS: Our results suggest that the calcineurin inhibitors probably do not provide greater protection compared to calcineurin inhibitor free schemes being necessary to carry out analyzes that allow us to evaluate the outcomes with different immunosuppression schemes in solid organ transplant recipients with SARS-CoV-2 infection.

Cashew (Anacardium occidentale) Nut-Shell Liquid as Antioxidant in Bulk Soybean Oil.

Recently, natural antioxidants for the food industry have become an important focus. Cashew nut-shell liquid (CNSL) is composed of compounds that can act as natural antioxidants in food systems. The aim of this work was to evaluate the potential of CNSL and its components to act as natural antioxidants in a bulk oil system. CNSL was treated with calcium hydroxide to obtain two fractions [cardol/cardanols acid fraction (CCF) and anacardic acid fraction (AF)]. CNSL, FF and AF were analyzed by thin-layer chromatography and Fourier-transform infrared spectroscopy. The protective effects of CNSL, CCF and AF were tested in terms of the peroxide value of bulk soybean oil in accelerated assays and were compared against controls with and without synthetic antioxidants (CSA and CWA). CNLS, CCF, AF and CSA were tested at 200 mg/kg soybean oil by incubation at 30, 40, 50 and 60 °C for five days. The activation energy (Ea) for the production of peroxides was calculated by using the linearized Arrhenius equation. Thin-layer chromatography and Fourier-transform infrared spectroscopy revealed that (i) CNSL contained cardanols, anacardic acids, and cardols; (ii) CCF contained cardanols and cardols; and (iii) AF contained anacardic acids. CSA (Ea 35,355 J/mol) was the most effective antioxidant, followed by CCF (Ea 31,498 J/mol) and by CNSL (Ea 26,351 J/mol). AF exhibited pro-oxidant activity (Ea 8339 J/mol) compared with that of CWA (Ea 15,684 J/mol). Therefore, cardols and cardanols from CNSL can be used as a natural antioxidant in soybean oil.

Consenso colombiano de expertos sobre recomendaciones basadas en evidencias para el diagnóstico, el tratamiento y el seguimiento de la enfermedad de Fabry con compromiso renal

Contexto: la enfermedad de Fabry se comporta como una enfermedad crónica con compromiso multisistémico y alto costo en salud. Objetivo: generar recomendaciones basadas en la evidencia para el diagnóstico, el tratamiento y el seguimiento de la enfermedad de Fabry con compromiso renal mediante un consenso de expertos. Metodología: a partir de la búsqueda de evidencia en Pubmed, Embase y Google Scholar entre 2010 y agosto 2020, se formulan recomendaciones sobre la definición, el diagnóstico y el tratamiento de la enfermedad de Fabry en población adulta, las cuales se consultan a un panel de expertos a través de la metodología de consenso Delphi modificado. La calidad de los documentos se evaluó por equipo metodológico aplicando herramientas en función del tipo de documento incluido. Resultados: se formularon 53 recomendaciones sobre la definición, el diagnóstico y el tratamiento. Un panel de cinco expertos clínicos nacionales e internacionales externos al grupo desarrollador participaron en la consulta preconsenso y 50 recomendaciones fueron acordadas para su inclusión, para tres de ellas se requirió una sesión formal de consenso que se dio en una ronda, incorporando tres nuevas recomendaciones. Conclusiones: las recomendaciones basadas en evidencia y experticia clínica permitirán orientar de manera estandarizada a nivel nacional y regional, el diagnóstico y el tratamiento de pacientes con sospecha o enfermedad de Fabry con compromiso renal.

Background: Fabry disease behaves like a chronic condition, with multisystem involvement and high health care costs. Objective: To generate evidence-based recommendations for the diagnosis, treatment and follow-up of the Anderson-Fabry disease with renal commitment, through an expert consensus. Methodology: Based on the search of evidence in PubMed, Embase and Google Scholar between 2010 and August, 2020, recommendations on the definition, diagnosis and treatment of Fabry Disease in adult population were formulated after consulting with an expert panel through the modified Delphi consensus methodology. The quality of the documents was assessed by methodological team applying tools according to the type of document included. Results: 53 recommendations for the definition, diagnosis and treatment were formulated. A panel of five national and international clinical experts external to the developer group participated in the pre-consensus consultation and 50 recommendations were agreed upon for their inclusion. For 3 recommendations, a formal consensus session which took place in one round was required, and 3 new recommendations were incorporated. Conclusions: The recommendations based on evidence and clinical expertise will allow us to guide the diagnosis and treatment of patients with Fabry disease with renal involvement or suspicion thereof in a standardized manner at national and regional levels.

Apuntes históricos sobre la Federación Estudiantil Universitaria en la Universidad de Ciencias Médicas de Matanzas (parte II)

RESUMEN Profundizar en la historia es necesario para reforzar los valores identitarios que nos distinguen. Se describen los aspectos más relevantes de la Federación Estudiantil Universitaria en la Universidad de Ciencias Médicas de Matanzas, desde 1989 hasta principios de 2021. Los apuntes recopilados evocan la labor de sus líderes y otros estudiantes de diferentes generaciones, quienes se destacaron en actividades políticas, docentes, científicas, culturales, deportivo-recreativas y de extensión universitaria.

ABSTRACT To delve in history is necessary to reinforce the identity values identifying people. The most relevant aspects of the University Students Federation in the Matanzas University of Medical Sciences, from 1989 to early 2021 are described. The collected notes evoke the work of the leaders and other students of different generations who excelled in political, teaching, scientific, cultural, sport-recreational, and university extension activities.

Clinical results and cost-effectiveness of radiofrequency and cyanoacrylate ablation compared with traditional surgical stripping for treating varicose veins.

BACKGROUND: Disease of the venous system is an underappreciated public health problem. Minimally invasive treatments such as radiofrequency ablation (RFA) or cyanoacrylate adhesive ablation (CAA) have almost entirely replaced surgical stripping (SS) of the great and small saphenous veins. The purpose of the present study was to compare the outcomes at 3 years after SS, RFA, and CAA by assessing the incidence of complications and reinterventions and performing a cost-effectiveness analysis. METHODS: From February 2016 to February 2019, all consecutive patients with symptomatic varicose veins treated at vascular department of two hospitals using SS, RFA, or CAA were included in the present study. The clinical outcomes were measured by quality-adjusted life years (QALYs), complications, and reintervention. A comparison with conservative treatment was also performed. A detailed resource use was recorded for each procedure. All costs were normalized to May 2020 U.S. dollars and euros. Analysis of the data was by the treatment received. All statistical tests were two-sided, and the significance level was set at 5%. Two perspectives of the analysis were considered: the social perspective and that of the Spanish Public Health System. The study period was 3 years. No discount rate was applied. RESULTS: A total of 233 patients were enrolled in the present study: SS, n = 90 (38.6%); RFA, 93 (39.9%); and CAA, n = 50 (21.5%). The number of complications was 11 (12.2%), 3 (3.3%), and 3 (6%) in the SS, RFA, and CAA groups, respectively (P = .06). No patient had required reintervention. The median loss of workdays for the SS, RFA, and CAA group was 15 days (interquartile range [IQR], 10-30 days), 0 days (IQR, 0-6 days), and 0 days (IQR, 0-1 days), respectively (P < .001). The median level of satisfaction for the SS, RFA, and CAA group was 9 (IQR, 8-10), 10 (IQR, 9-10), and 10 (IQR, 9-10), respectively (P < .001). The QALYs was 2.6 years for all three procedures. The median overall cost was €852 (US$926) for SS, €1002 (US$1089) for RFA, and €1228.3 (US$1335) for CAA. The total cost per QALY was €323/QALY (US$351/QALY) for SS, €380/QALY (US$413/QALY) for RFA, and €467/QALY (US$508/QALY) for CAA. The indirect costs were measured by the cost of the workdays lost for each patient and were €1527 (US$1660; IQR, €1018-3054); €0 (IQR, €0-611) for RFA, and €0 (IQR, €0-102) for CAA (P < .001). CONCLUSIONS: All three techniques were cost-effective (procedures with an incremental cost-effectiveness ratio <€30,000/QALY can be recommended). From the Spanish Public Health System perspective, when considering only the health care costs, the most cost-effective technique was SS. From the social perspective, including the opportunity costs of medical leave, CAA was the most cost-effective technique, saving €1600 per patient, a cost that more than compensated for the savings realized from using SS in direct health care costs.

Antibiotic prophylaxis adequacy assessment and its influence on surgical site infection in peripheral vascular bypass surgery.

OBJECTIVE: We sought to assess the degree of antibiotic prophylaxis adequacy to our surgical antibiotic prophylaxis protocol among patients who underwent peripheral vascular bypass surgery. MATERIALS AND METHODS: Prospective cohort study. Adequacy to protocol was studied by comparing the different aspects of prophylaxis received by patients to those stipulated in the protocol in force at our hospital. Incidence of surgical wound infection was calculated and the effect of prophylaxis inadequacy on the incidence of surgical wound infection was estimated using the relative risk. RESULTS: The study covered 266 patients. Incidence of surgical site infection (SSI) after the follow-up period was 5.3% (95% Confidence interval [CI]: 3.0-9.4). Overall adequacy to the protocol of antibiotic prophylaxis was 91.0% (95% CI: 87.6-94.4). The most frequent cause of inadequacy to the protocol was time of initiation of antibiotic prophylaxis (94.1%). No relationship was found between SSI and antibiotic prophylaxis inadequacy (relative risk: 2.4; 95% CI: 0.49-12.5; p > 0.05). CONCLUSIONS: Global adequacy to protocol of antibiotic prophylaxis was high. The most frequent cause of inadequacy to the protocol was time of initiation of antibiotic prophylaxis.

OBJETIVO: Buscamos evaluar el grado de adecuación de la profilaxis antibiótica a nuestro protocolo de profilaxis antibiótica quirúrgica entre los pacientes sometidos a cirugía de bypass vascular periférico. MATERIAL Y MÉTODOS: Estudio de cohortes prospectivo. La adecuación al protocolo se estudió comparando los diferentes aspectos de la profilaxis recibida por los pacientes con los estipulados en el protocolo vigente en nuestro hospital. Se calculó la incidencia de infección de herida quirúrgica y se estimó el efecto de la inadecuación de la profilaxis sobre la incidencia de infección de herida quirúrgica mediante el riesgo relativo. RESULTADOS: El estudio abarcó 266 pacientes. La incidencia de infección del sitio quirúrgico (ISQ) tras el periodo de seguimiento fue del 5,3% (intervalo de confianza [IC] del 95%: 3,0-9,4). La adecuación global al protocolo de profilaxis antibiótica fue del 91,0% (IC 95%: 87,6-94,4). La causa más frecuente de inadecuación al protocolo fue el momento de inicio de la profilaxis antibiótica (94,1%). No se encontró relación entre ISQ e inadecuación de la profilaxis antibiótica (riesgo relativo: 2,4; IC 95%: 0,49-12,5; p > 0,05). CONCLUSIONES: La adecuación global al protocolo de la profilaxis antibiótica fue alta. La causa más frecuente de inadecuación al protocolo fue el momento de inicio de la profilaxis antibiótica.

Heavy Metals and Trace Elements in Human Breast Milk from Industrial/Mining and Agricultural Zones of Southeastern Spain.

Human breast milk is the most complete foodstuff for infants but can also be a potential source of exposure to toxic chemicals. The aim of this study was to assess the levels of metal pollution in the breast milk of women living in agricultural and industrial/mining areas of the Region of Murcia (Spain) that are well known for their cases of environmental pollution. Human milk samples were collected from 50 mothers and inorganic contaminants were analyzed using inductively coupled plasma mass spectrometry (ICP-MS). The mean or maximum concentrations of the different inorganic elements analyzed in breast milk, with the exception of manganese, exceeded the maximum limits established by the WHO and could constitute a high risk for pregnant mothers and their children. The breast milk of women living in the industrial/mining zone presented the highest levels of aluminum, zinc, arsenic, lead, mercury and nickel. On the contrary, the highest concentrations of manganese, chromium and iron were determined in the milk of women living in the agricultural zone. These results suggested and confirmed different profiles of environmental contamination of these areas.

Acute Stroke due to Vertebral Artery Dissection in Giant Cell Arteritis.

The diagnosis of giant cell arteritis (GCA) when presenting with atypical features such as stroke is very challenging. Only 0.17% of first-ever strokes are caused by GCA, a life-threatening condition when left untreated. Very few cases have been reported on giant cell arteritis leading to acute stroke due to vertebral artery dissection. We present a case of a 76-year-old female with no medical history who presented with sudden onset right visual loss and left hemiparesis. She had been initially treated for acute stroke and upon further workup was found to have left vertebral artery dissection. She had erythrocyte sedimentation rate (ESR) of 71 mm/h, and bilateral temporal artery biopsy was consistent with giant cell arteritis. Patient received high doses of methylprednisolone which resolved her hemiparesis, but her vision loss did not improve. Stroke in the presence of significant involvement of vertebral arteries should raise suspicion of GCA especially if classic symptoms preceded stroke event. High clinical suspicion is required to prevent delay in diagnosis and treatment.

Risk factors for triatominae infestation in a municipality of Colombia.

BACKGROUND: Identifying risk factors for Triatominae infestation is essential for the development of vector control interventions. METHODS: To determine the intra- and peridomiciliary risk factors associated with triatomine infestation, a cross-sectional analytical study was carried out with random cluster sampling in two stages, which included the identification of risk factors by survey and direct observation, as well as the search and capture of triatomines. The detection of trypanosomes in triatomines was carried out by observing the rectal content and then by conventional polymerase chain reaction (PCR). RESULTS: In 21 of the 207 houses inspected, 13 specimens of R. colombiensis and 19 specimens of P. geniculatus were found. Entomological indices included: dispersion 36%, infestation 10%, infection 65%, colonization 4.7%, density 15%, and concentration 152%. An association was found between the presence of Triatominae and the existence of branches and fissures in the floors, as well as with the presence of accumulated objects and with knowledge about Chagas disease. The risk of having triatomines in urban homes is 5.7 times higher than the risk in rural areas [confidence interval (CI) 0.508-67.567]; 6.6 times in houses with cracked soil (CI 0.555-81.994), 6 times in houses located near caneys (CI 0.820-44.781), and 6.16 times with accumulated objects (CI 1.542-39.238). CONCLUSION: Chagas disease is a complex problem that requires control based on the vector's elimination or surveillance, which implies identifying species and their distribution, generating alerts, knowledge, and awareness in the population. It is necessary to intensify surveillance activities for the event, especially in changing aspects of Chagas diseases' transmission dynamics, such as urbanization and the type of housing associated with the vector's presence.

Symptomatic Common Carotid Free-Floating Thrombus in a COVID-19 Patient, Case Report and Literature Review.

Carotid free-floating thrombus is an uncommon entity that usually presents with neurologic symptoms. Crescendo transient ischemic attack is an accepted indication for urgent carotid endarterectomy. COVID-19 is associated with severe thromboembolic complications. We report the case of a 61-year-old man who developed, 2 weeks after the diagnosis of COVID-19, crescendo transient ischemic attack, complicating a large intraluminal floating thrombus within the right common carotid artery. A carotid thromboendarterectomy under local anesthesia, with patch closure was immediately performed without complications. We conducted a literature review to identify cases of common carotid artery thrombus related to COVID-19. Carotid free-floating thrombus in the common carotid artery is exceptional. However, since the beginning of the COVID-19 pandemic, 15 cases have been published.

Frecuencia de hemoglobinopatías en mujeres embarazadas del programa de anemias por hematíes falciformes en Cuba / Frequency of hemoglobinopathies among pregnant women from the sickle cell anemia program in Cuba

Introducción: Las hemoglobinopatías se consideran errores monogénicos hereditarios y están caracterizados por defectos en la molécula de hemoglobina. En Cuba, la detección prenatal de hemoglobinopatías se realiza a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda: asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar la frecuencia de hemoglobinopatías en mujeres embarazadas residentes en Cuba. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar la frecuencia de hemoglobinopatías en 1 342 917 mujeres embarazadas captadas en el periodo 2009-2019. El método diagnóstico de la pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación se realizó por electroforesis de hemoglobina en gel de agarosa a pH ácido; ambos métodos mediante la tecnología HYDRASYS. Resultados: La frecuencia global de embarazadas con hemoglobinopatías fue de 3,5 por ciento. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El subprograma alcanzó 99,24 por ciento de cobertura en el país. Conclusión: La alta frecuencia de hemoglobinopatías en Cuba justifica la importancia de continuar el subprograma de detección de portadores para prevenir la aparición de las formas graves de la enfermedad(AU)

Introduction: Hemoglobinopathies are hereditary monogenic errors characterized by defects in the hemoglobin molecule. In Cuba, prenatal detection of hemoglobinopathies is performed by hemoglobin electrophoresis to identify high-risk couples. The program offers genetic counseling, prenatal molecular diagnosis and selective pregnancy termination in case of affected fetuses at the request of couples. Objective: Determine the frequency of hemoglobinopathies among pregnant women living in Cuba. Methods: A descriptive cross-sectional retrospective study was conducted to determine the frequency of hemoglobinopathies in 1 342 917 pregnant women recruited in the period 2009-2019. Screening was based on the diagnostic method of hemoglobin electrophoresis in alkaline pH agarose gels. Confirmation was performed with hemoglobin electrophoresis in acid pH agarose gel. Both methods used HYDRASYS technology. Results: Overall frequency of pregnant women with hemoglobinopathies was 3.5 percent. Hemoglobinopathies were detected in 47 465 women: 38 698 with variant S heterozygote, 8 706 with variants of hemoglobin C y 158 with other variants. 44 283 husbands with hemoglobinopathies and 3 099 high-risk couples were detected, and 2 689 prenatal molecular diagnostic tests were conducted. A total 522 affected fetuses were confirmed, and 382 couples requested pregnancy termination. The subprogram achieved 99.24 percent coverage in the country. Conclusion: The high frequency of hemoglobinopathies in Cuba justifies the importance of continuing the carrier detection subprogram to prevent the emergence of severe forms of the disease(AU)

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.

OBJECTIVE: To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting with early infantile epileptic encephalopathy (EIEE-37) with prominent movement disorder. BACKGROUND: EIEE-37 is caused by biallelic loss of function variants in the FRRS1L gene, which is critical for AMPA-receptor function, resulting in intractable epilepsy and dyskinesia. METHODS: A retrospective, multicenter chart review of patients sharing the same homozygous FRRS1L (p.Gly246del) pathogenic variant identified by clinical genetic testing. Clinical information was collected regarding neurodevelopmental outcomes, neuroimaging, electrographic features and clinical response to antiseizure medications. RESULTS: Fifteen patients from 12 different families of Puerto Rican ancestry were homozygous for the FRRS1L (p.Gly246del) pathogenic variant, with ages ranging from 1 to 25 years. The onset of seizures was from 6 to 24 months. All had hypotonia, severe global developmental delay, and most had hyperkinetic involuntary movements. Developmental regression during the first year of life was common (86%). Electroencephalogram showed hypsarrhythmia in 66% (10/15), with many older children evolving into Lennox-Gastaut syndrome. Six patients demonstrated progressive volume loss and/or cerebellar atrophy on brain magnetic resonance imaging (MRI). CONCLUSIONS: We describe the largest cohort to date of patients with epileptic encephalopathy. We estimate that 0.76% of unaffected individuals of Puerto Rican ancestry carry this pathogenic variant due to a founder effect. Children homozygous for the FRRS1L (p.Gly246del) Boricua variant exhibit a very homogenous phenotype of early developmental regression and epilepsy, starting with infantile spasms and evolving into Lennox-Gastaut syndrome with hyperkinetic movement disorder.

Apuntes históricos de la Federación Estudiantil Universitaria. Universidad de Ciencias Médicas de Matanzas, primera parte / Historical notes on the University Students Federation in the Matanzas University of Medical Sciences. Part I

RESUMEN muy poco se conoce y apenas existe documentación sobre lo que la Federación Estudiantil Universitaria ha realizado en la provincia y en la Universidad de Ciencias Médicas de Matanzas. Por ser tan importante esta temática como parte del rescate de la memoria histórica de la organización estudiantil, constituye un reto investigar y escribirla. Describir algunos apuntes históricos del inicio y desarrollo de la Federación Estudiantil Universitaria en la hoy Universidad de Ciencias Médicas de Matanzas, durante una primera etapa. Se describen algunos de los principales hechos vinculados al trabajo de los miembros de la Federación de Estudiantes Universitarios de las carreras de ciencias médicas de Matanzas, se recopiló información sobre sus dirigentes estudiantiles, eventos académicos, científicos, culturales, juegos deportivos, entre otros, desde los años iniciales de la educación médica superior en la provincia hasta el comienzo de la década del 90. La historia de la Federación de Estudiantes Universitarios, en la hoy Universidad de Ciencias Médicas de Matanzas, refleja el papel desempeñado por la organización, sus miembros y dirigentes, lo que la hace rejuvenecer cada año, con las nuevas generaciones que la integran (AU).

SUMMARY Very little is known and there is hardly any documentation on what the University Students Federation (FEU by its Spanish initialism) has done in the province and at Matanzas University of Medical Sciences. Because this theme is so important as part of the rescue of the historical memory of the student's organization, it is a challenge to investigate and write it. To provide some historical notes on the beginning and development of the University Student Federation in the current University of Medical Sciences of Matanzas, during a first stage. The authors described some of the main facts related to the work of the members of the University Students Federation of the medical sciences degree courses of Matanzas; they collected information about its student leaders, academic, scientific, cultural events, sports games, among others, from the initial years of higher medical education in the province until the beginning of the 90s.The history of the University Students Federation at Matanzas University of Medical Sciences mirrors the role played by the organization, its members and leaders, rejuvenating it every year, with the new generations joining it in (AU).

Cost-effectiveness of Carotid Surgery.

BACKGROUND: The purpose of this study is to determinate the cost-effectiveness of carotid endarterectomy (CEA) versus transfemoral stenting (TFS) and transcervical stenting (TCS) in a short- and long-term basis in symptomatic and asymptomatic patients. METHODS: From January 2003 to December 2014, patients from the vascular department, with symptomatic or asymptomatic carotid stenosis, who were clinically and anatomically suitable for TFS, TCS, or CEA, were included. Prospective cost data for each individual procedure and complication during follow-up were obtained from the diagnosis-related group. The quality-adjusted life years (QALYs) and incremental cost-effectiveness ratios were estimated. Analysis of data was by treatment received. All statistical tests were two-sided. The significance level was 5%. RESULTS: A total of 349 patients were enrolled: 61 for CEA (17.5%), 159 for TFS (45.5%), and 129 for TCS (37%). A total of 220 (63%) patients were symptomatic and 129 (37%) were asymptomatic. The median procedural cost and overall cost were lower on CEA (5499€ and 5595€, respectively). However, QALYs, for symptomatic patients, were better on TCS (7.3), whereas for asymptomatic patients, QALYs were better on CEA (9.6). Cost-effectiveness for symptomatic patients was better with TCS (803€/QALY), and for asymptomatic patients, it was with CEA (654€/QALY). CONCLUSIONS: TFS and TCS were associated with clinical outcomes equivalent to CEA on both symptomatic and asymptomatic patients. Cost-effectiveness ratios for symptomatic patients were better on TCS, whereas the CEA showed the best results in asymptomatic patients.

Tracking the glossopharyngeal nerve pathway through anatomical references in cross-sectional imaging techniques: a pictorial review.

The glossopharyngeal nerve (GPN) is a rarely considered cranial nerve in imaging interpretation, mainly because clinical signs may remain unnoticed, but also due to its complex anatomy and inconspicuousness in conventional cross-sectional imaging. In this pictorial review, we aim to conduct a comprehensive review of the GPN anatomy from its origin in the central nervous system to peripheral target organs. Because the nerve cannot be visualised with conventional imaging examinations for most of its course, we will focus on the most relevant anatomical references along the entire GPN pathway, which will be divided into the brain stem, cisternal, cranial base (to which we will add the parasympathetic pathway leaving the main trunk of the GPN at the cranial base) and cervical segments. For that purpose, we will take advantage of cadaveric slices and dissections, our own developed drawings and schemes, and computed tomography (CT) and magnetic resonance imaging (MRI) cross-sectional images from our hospital's radiological information system and picture and archiving communication system. TEACHING POINTS: • The glossopharyngeal nerve is one of the most hidden cranial nerves. • It conveys sensory, visceral, taste, parasympathetic and motor information. • Radiologists' knowledge must go beyond the limitations of conventional imaging techniques. • The nerve's pathway involves the brain stem, cisternal, skull base and cervical segments. • Systematising anatomical references will help with nerve pathway tracking.

Trypanosoma cruzi infection in naturally infected dogs from an endemic region of Cundinamarca, Colombia.

The seropositivity and risk factors for Trypanosoma cruzi infection in dogs from a municipality of Cundinamarca, a central state of Colombia were studied. A total of 356 client-owned dogs from urban, peri-urban and rural areas of La Mesa municipality, (Cundinamarca, Colombia) were randomly selected. Blood samples were collected by venipuncture. Anti-T. cruzi antibodies were determined using the enzyme-linked immunosorbent assay (ELISA) method. Reactive ELISA sera were processed by indirect immunofluorescence to confirm the presence of anti-T. cruzi antibodies. Chi-square tests were conducted for statistical analysis. Serologic tests for T. cruzi infection showed a prevalence of 29.49% (105/356), the rural area show a highest T. cruzi infection pattern in comparison with the other zone locations. Two triatomine species were found through the study: Panstrongylus geniculatus (53.4%) and Rhodnius colombiensis (46.6%). The prevalence of positive vectors for parasite was of 52.1% (38/73). Additionally, a very close relation between triatomine bugs and dogs in the rural zone (1:3.1) was observed. These results are the first report of natural infection by T. cruzi in domestic dogs in La Mesa municipality. In conclusion, the presence of anti-T. cruzi antibodies in dogs in this area suggest vector transmission. There is a need for active surveillance programs throughout the La Mesa municipality and vector control strategies should also be implemented.

Chemical composition of rosehips from different Rosa species: an alternative source of antioxidants for the food industry.

It is important to explore new sources of natural additives because the demand for these compounds by consumers is increasing. These products also provide health benefits and help in food preservation. An unexplored source of nutrients and antioxidant compounds is rosehip, the fleshy fruit of roses. This work compares the antioxidant compound (vitamin C, neutral phenols and acidic phenols) content of four Rosa species rosehips: R. pouzinii, R. corymbifera, R. glauca and R. canina from different geographical zones. Results show quantitative variability in ascorbic acids and neutral phenols content, and quantitative and qualitative differences in acidic phenol content, depending on species. Vitamin C concentration was highly variable depending on species, R. canina being the one with the highest concentration and R. pouzinii the one with the lowest content. Variability was found in total neutral polyphenols concentration and a correlation between freshness of the rosehips and concentration of neutral polyphenols was also found. Significant differences were found in the acidic phenols content among the studied species. Generally antioxidant activity was higher in the vitamin C fraction.