Chronic disease prevalence in a population with structural hemoglobin disorders undergoing diabetes diagnosis: A bayesian approach.

Background: Structural disorders of hemoglobin are a group of rare and fatal genetic diseases that disrupt the transport and exchange of oxygen in the blood, causing tissue damage and ultimately leading to chronic conditions. The hemoglobin (Hb) S variant predominantly impacts individuals of Afro-descendant heritage. A significant concentration of the Afro-descendant population in Colombia, notably 12.5 %, is found in the city of Cali. Previous research has identified this city's structural hemoglobin disorders prevalence rate of 3.78 %. The aim of this study was to determine the prevalence of HbC, HbS, HbF, and HbA2 variants within a population who underwent HbA1c testing, as well as the prevalence of chronic diseases among patients with these hemoglobin alterations, at a high-complexity hospital in the city of Cali from 2015 to 2019. Methods: A descriptive observational study was conducted, involving a study population that comprised patients with both suspected and monitored diagnoses of diabetes. The cohort was selected from a high-complexity hospital in Cali. A total of 15,608 patients were included in the analysis, all of whom underwent HbA1C measurement through capillary electrophoresis, which also offers an indirect diagnosis of certain structural disorders of hemoglobin. Bayesian methods were employed for frequency analysis. Results: Among the 15,608 patients assessed, 63.6 % (n = 9920) were women. The overall prevalence of structural hemoglobin disorders was 1.98 % (n = 287, 95 % CI = 1.77 %-2.21 %). The co-occurrence of diabetes and kidney disease emerged as the most prevalent combination of pathologies observed in individuals with HbC, for both men and women across various age groups: 18-42 (58.3 % and 50.0 % respectively), 43-55 (50.0 % for both), 56-65 (50.0 % and 37.5 % respectively), and >65 years (66.7 % and 57.1 % respectively). Conclusions: The observed prevalence of the studied variants exceeded 1 %, a threshold underscored by the World Health Organization (WHO) as epidemiologically significant. Among HbC and HbS-positive patients, the elevated prevalence of diabetes and kidney disease is a guiding factor in developing proactive prevention strategies.

Impact of Next-Generation Sequencing Cell-free Pathogen DNA Test on Antimicrobial Management in Adults with Hematological Malignancies and Transplant Recipients with Suspected Infections.

Infections in adult patients with hematological malignancies (HM) and stem cell transplant (SCT) recipients are a significant cause of morbidity and mortality. A timely diagnosis of infections can have a major impact on outcomes. Tools that help rule out infectious causes of fever can decrease antibiotic use, toxicities, hospitalization costs, and potentially decrease antibiotic resistance in the long term. We retrospectively evaluated the ability of cell-free DNA next-generation sequencing (NGS) testing in the timely identification of pathogenic microorganisms and its impact on the antimicrobial management of immunocompromised patients with hematologic malignancies. In the period between 2018 to 2020, 95 samples were reviewed, of which 31 adult patients (32 tests) had hematologic malignancies or were recipients of SCT. The NGS tests were performed in the following patients: (a) patients with prolonged fever and negative conventional tests, (b) persistent fever despite positive conventional test and appropriate antimicrobials, and (c) fever-free patients with imaging suspicious for infection. The median time from fever to NGS sampling was 5 days (range, 1-28). The median time to NGS results was 2 days (range, 1-6). The NGS resulted in an escalation of antibiotics in 28% of cases (9/32) and de-escalation of antibiotics in 31% of cases (10/32). Overall, NGS testing changed management in nearly 59% (19/32) of patients. The sensitivity and specificity of NGS to detect clinically significant infection was 80% and 58%, respectively. The test identified uncommon and difficult to diagnose organisms such as Nocardia, Legionella, Toxoplasma and Pneumocystis jirovecii resulting in rapid antimicrobial interventions. In conclusion, in patients with HM or SCT recipients, microbial cell-free DNA sequencing allowed rapid and actionable treatment. This strategy can target appropriate antibiotic use, avoid overtreatment, and potentially decrease the hospital length-of-stay.

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations. Analyses were performed using R 3.6.0. software. We included 197 individuals: 74 index cases and 123 relatives. CLMs were diagnosed in 65% of patients, ULMs in 90% of women, RCys in 37% and RCC in 10.9%. Twenty-seven different pathogenic variants were detected, 12 (44%) of them not reported previously. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants (p = 0.0380, p = 0.0015 and p = 0.024, respectively). This is the first report of patients with HLRCC from Spain. The frequency of RCCs was lower than those reported in the previously published series. Individuals with missense pathogenic variants had higher frequencies of CLMs, ULMs and RCys.

Evaluación para comparar dos esquemas de terapia estándar (7 frente a 10 días) contra el Helicobacter pylori, con seguimiento clínico a 1 año / Randomized study of seven days of standard treatment for Helicobacter Pylori vs. ten days of standard treatment for Helicobacter Pylori with one year follow-ups of patients

Antecedentes: la creciente resistencia del Helicobacter pylori a los antibióticos induce el fracaso de la terapia de erradicación, por lo que se pretende modificar no solo la duración de la misma sino el régimen de antibióticos. Materiales y métodos: luego de una asignación aleatorizada se compararon dos esquemas de tratamiento estándar (7 [grupo 1] frente a 10 días [grupo 2]) con omeprazol 20 mg más amoxicilina 1 g y claritromicina 500 mg, todos vía oral (VO) cada 12 horas en pacientes con dispepsia no ulcerosa (DNU) y dispepsia ulcerosa (DU), para evaluar la efectividad de la erradicación con la prueba o test del aliento. Al año se comparó de nuevo la respuesta clínica de cada una de las terapias en los pacientes con DNU y DU. Se evaluó, además, la tolerancia a la terapia en cada grupo. Resultados: se asignaron aleatoriamente 149 pacientes al grupo 1 y 144 pacientes al grupo 2. La tasa de erradicación en el análisis por intención a tratar fue del 67,8% en el grupo 1 y del 74,3% en el grupo 2 (p=0,24), y en el análisis por protocolo fue del 72,1% y 81,1% (p=0,08), respectivamente. La tasa de erradicación fue similar para ambos grupos independiente del grado de infección por H. pylori (p=0,22) y no se encontraron diferencias en el grado de infección y la presencia de DNU o DU (p=0,19). Los efectos adversos fueron más frecuentes en el grupo 2 (27,5% frente a 36,1%), aunque sin relevancia estadística (p=0,4). La tasa de erradicación para ambos grupos fue similar para los pacientes con DNU (73,8% frente a 81,1%) y DU (64,3% frente a 73%). El seguimiento al año mostró que las manifestaciones clínicas no se relacionaron con el hecho de haber erradicado o no la bacteria (p=0,7), pese a que la respuesta clínica de los pacientes con DU fue mejor que la observada para los pacientes con DNU. Conclusiones: la terapia estándar durante 7 o 10 días es insuficiente para la erradicación del H. pylori, independiente del grado de infección por este microorganismo ...

Background: The increasing resistance of H pylori to antibiotics has led to failures of eradication treatment. For this reason we intend to modify both the duration of treatment and the regime of antibiotics. Methods: After random allocation, the standard treatment with omeprazole 20 mg orally every 12 hours, amoxicillin 1 g VO every 12 hours and clarithromycin 500 mg orally every 12 hours for 7 days (group 1) was compared with the same antibiotic regime over 10 days (group 2). Patients had either non-ulcer dyspepsia (NUD) or ulcer dyspepsia (UD). Effectiveness of eradication was evaluated with breathe tests. A year later, clinical responses to each therapy were compared for patients with NUD and DU. The tolerance to therapy was also evaluated for each group. Results: 149 patients were randomly assigned to group 1 and 144 patients to group 2. The eradication rate as measured by ITT analysis was 67.8% in group 1 and 74.3% in group 2 (p = 0.24). It was 72.1% and 81. 1% (p = 0.08) respectively for per protocol analysis. The eradication rate was similar for both groups independently of the degree of H pylori infection (p = 0.22). Differences in the degree of infection and the presence of NUD or DU (p = 0.19) were not found. Adverse effects were more frequent in group 2 (27.5% vs. 36.1%), but without statistical relevance (p = 0.4). The eradication rate was similar for patients with NUD (73.8% vs. 81,1%) and DU (64.3% vs. 73%). Follow up examinations one year later showed that the clinical manifestations were not related to the whether or not bacteria had been eradicated (p = 0.7). Nevertheless, the clinical response of patients with DU was better than for those with NUD. Conclusions: Standard therapy for either 7 or 10 days is insufficient for eradication of H pylori independent of the degree of H pylori infection or the type of endoscopic finding (NUD or DU). Both therapies show suboptimal eradication rates and poor clinical responses at ...

Cirugía de Frey para la pancreatitis crónica / The Frey surgical technique for chronic pancreatitis

El manejo de la pancreatitis crónica es primordialmente paliativo. Los pacientes requieren cirugía cuando existen sospecha de malignidad, dolor intratable o se desarrolla alguna de las complicaciones de la pancreatitis crónica. La cirugía ideal para la pancreatitis crónica debe proveer el alivio del dolor y corregir las complicaciones inherentes a la enfermedad, preservando además la precaria función exo y endocrina del páncreas. Se presenta la experiencia con la técnica quirurgica de Frey en diez pacientes con pancreatitis crónica y se discuten aspectos puntuales del procedimiento y los criterios de selección del mismo.

Adenomas planos colorrectales: correlacion endoscopica e histologica / Flat adenomas: endoscopic and histologic correlation

Antecedentes: esta ampliamente aceptada la secuencia adenoma-carcinoma como precursora del cancer colorrectal, cada vez mas frecuentemente los adenomas planos son involucrados en esta relacion y se describen como lesiones poco elevadas de centro plano o deprimido; histologicamente, la profundidad del tejido displasico no debe ser mayor del doble del grosor de la mucosa normal. Estas lesiones no han sido reportadas en nuestra poblacion. Objetivo: determinar la presencia de los adenomas planos en una poblacion sometida a estudio colonoscopico por diferentes indicaciones. No es un estudio tamiz. Pacientes: de 374 pacientes sometidos a estudio colonoscopico durante un año, 348 cumplieron los criterios de inclusion con una edad promedio de 53 años y un predominio marcado del sexo femenino (64 por ciento). Metodos: en 98 pacientes (28 por ciento) se encontraron polipos que fueron removidos para estudio histologico. En algunos pacientes con lesiones planas, se utilizo la tinci6n con azul de metileno para destacar algunas de las caracteristicas de estas lesiones (depresion central, numero de lesiones, extension de la remocion). Resultados: se resecaron 186 polipos en 98 pacientes. De estos, 82 (44 por ciento) eran planos, 99 (53 por ciento) sesiles y 5 (3 por ciento) pediculados. No se detectaron adenomas planos en menores de 40 años y se encontro un indice mayor de compromiso en hombres (45 por ciento) con respecto al grupo en general (34 por ciento). El 52 por ciento de los adenomas planos eran menores o iguales a 5 mm, 36 por ciento de 6 a 10 mm y 12 por ciento mayores a 10 mm. La displasia se observo en 28 por ciento de los adenomas planos. Se encontraron 3 carcinomas, uno originado en un adenoma plano del colon transverso, de 12 mm de diametro. Solo 2 adenomas planos presentaban depresion central y se asociaron con altos grados de displasia. Conclusion: los adenomas planos con displasia son una realidad en nuestra poblacion y su deteccion temprana representa un reto para los endoscopistas. Estas lesiones podrian jugar un papel importante en la histogenesis del cancer colorrectal