A systematic review of biobanks in Latin America: Strengths and limitations for biomedical research.

Biobanks are valuable tools for developing and applying scientific research and international cooperation through the collection of biological materials and their associated data. Systematic research following the Preferred Reporting Items for Systematic Review and Meta-Analysis guidelines was conducted in late 2022 in PubMed and Scopus, and generated 17 articles to be reviewed in depth and critically assessed using the Critical Appraisal Skills Programme Checklist due to the limited available data; 12 relevant health organizations and government websites outside of peer-reviewed journals were also included. Our research identified 44 biobanks in Latin America. In general, there is a lack of regulation and legislation guaranteeing the stored materials' quality and institutional collaboration. We believe a consensus needs to be reached regarding the terminology and definitions used for biobanks. The design for informed consent should also be agreed upon to ensure the privacy of the data shared among institutions. In conclusion, in Latin America, there is a clear need for government support in creating specific procedures for biobanks and providing further support for existing biobanks.

Insulin resistance potentiates the effect of remnant cholesterol on cardiovascular mortality in individuals without diabetes.

BACKGROUND AND AIMS: Remnant cholesterol (RC) and insulin resistance (IR) have been independently associated with cardiovascular risk. Here, we evaluated the role of IR and RC on cardiovascular disease (CVD) mortality. METHODS: We conducted an analysis of 16,113 individuals ≥20 years without diabetes from the National Health and Nutrition Examination Survey (NHANES-III/IV). RC levels were calculated using total cholesterol, non-HDL-c, and LDL-c; IR was defined as HOMA2-IR≥2.5 and CVD mortality as a composite of cardiovascular and cerebrovascular mortality. Multiple linear regression was used to assess the relationship between HOMA2-IR and RC and Cox regression models to assess their joint role in CVD mortality. Causally ordered mediation models were used to explore the mediating role of IR in RC-associated CVD mortality. RESULTS: We identified an association between higher HOMA2-IR and higher RC levels. The effect of IR on CVD mortality was predominant (HR 1.32, 95%CI 1.18-1.48) and decreased at older ages (HR 0.934, 95%CI 0.918-0.959) compared to RC (HR 0.983, 95%CI 0.952-1.014). Higher risk of CVD mortality was observed in individuals with IR but normal RC (HR 1.37, 95%CI 1.25-1.50) and subjects with IR and high RC (HR 1.24, 95%CI 1.13-1.37), but not in subjects without IR but high RC. In mediation models, HOMA2-IR accounted for 78.2% (95%CI 28.11-98.89) of the effect of RC levels on CVD mortality. CONCLUSIONS: Our findings suggest that RC potentiates the risk of CVD mortality through its effect on whole-body insulin sensitivity, particularly among younger individuals.

Elongated particulate burden in an individual who died of mesothelioma and had an occupational history as a talc "mucker".

INTRODUCTION: Tissue from a 77-year-old man diagnosed with mesothelioma was referred with a request for identification of the presence of fibrous structures in tissue samples. The individual's work history including working as a "mucker" at a specific "industrial" talc mine. METHODS: Ferruginous bodies in the tissue digests as well as asbestos fibers were found. A bulk sample of a talc containing product from that mine was also analyzed. DISCUSSIONS/CONCLUSIONS: The correlation between the unique asbestos mineral/fibrous content of the talc to which he was exposed and findings of the same type of asbestos found in his lung is discussed. The type of asbestos found (tremolite) is a "non-commercial" type of asbestos that has been identified in some talc deposits. Tremolite, like all forms of asbestos is a causative agent for mesothelioma-the disease from which this individual suffered.

Perfil de prescripciones de nutrición parenteral y evolución ponderal en prematuros menores de 36 semanas en un hospital de los andes peruanos. Un estudio descriptivo / Profile of parenteral nutrition prescriptions and weight evolution inpremature infants under 36 weeks in a hospital in the Peruvian Andes. A descriptive study

Introducción: Las guías reúnen los mejores niveles de evidencia científica y mediante su uso se mejora la calidad de atención, por ello es importante describir el perfil de prescripción de nutrición parenteral en prematuros de un hospital peruano y su evolución ponderal al 14vo día.Objetivo del estudio: Describir las prescripciones médicas de nutrición parenteral neonatal y su adherencia a las guías de referencia local basadas en ESPGHAN, ESPEN, ESPR; así como mostrar la evolución ponderal al 14vo día. Material y Métodos: Estudio observacional, descriptivo, retrospectivo en la unidad de cuidados intensivos neonatales del Hospital Nacional “Ramiro Prialé Prialé”, periodo 2022. Se consideró las prescripciones de nutrición parenteral que cumplan criterios de inclusión, exclusión y se comparó con las recomendaciones de la guía local; También se midió la ganancia ponderal al 14vo día mediante una fórmula validada previamente.Resultados: Se estudiaron 68 pacientes con edad gestacional mínima de 27 y máxima de 36 semanas; peso mínimo de 1000 gr y máxima de 3500 gr. Se halló que el primer día el promedio de prescripción energética fue 60,58 kcal/kg/día, aporte proteico 2,57 gr/kg/día y lipídico 2,18 gr/kg/día; correspondiendo a 72,06%, 69,12% y 57,35% de apego a las guías, al quinto día estos valores fueron incrementándose, a su vez ello correspondió a una adherencia de 100%, 94,12% y 97,06% según las guías de referencia. La ganancia ponderal promedio fue de 12,29 gr/kg/día al 14vo día.Conclusiones: La adherencia a las guías ESPGHAN, ESPEN, ESPR, en la prescripción de nutrición parenteral son aceptables, siendo ésta mucho mayor al quinto día. Es probable que ello tenga relación a la evolución ponderal encontrada.(AU)

Introduction: The guidelines bring together the best levelsof scientific evidence and through their use the quality of careis improved, therefore it is important to describe the parenteralnutrition prescription profile in premature infants in a Peruvianhospital and their weight evolution on the fourteenth day. Objective of the study: To describe medical prescriptionsfor neonatal parenteral nutrition and their adherence to localreference guidelines based on ESPGHAN, ESPEN, ESPR; aswell as showing the weight evolution on the fourteenth day. Material and Methods: Observational, descriptive, retro-spective study in the neonatal intensive care unit of the“Ramiro Prialé Prialé” National Hospital, period 2022 Parenteral nutrition prescriptions that meet inclusion and ex-clusion criteria were considered and compared with the rec-ommendations of the local guide; Weight gain on the 14thday was also measured using a previously validated formula. Results: 68 patients with a minimum gestational age of 27and maximum of 36 weeks were studied; minimum weight of1000 gr and maximum of 3500 gr. It was found that on the firstday the average energy prescription was 60.58 kcal/kg/day,protein intake 2.57 gr/kg/day and lipid intake 2.18 gr/kg/day;corresponding to 72.06%, 69.12% and 57.35% of adherenceto the guidelines, on the fifth day these values increased, inturn this corresponded to an adherence of 100%, 94.12% and97.06 % according to reference guides. The average weightgain was 12.29 gr/kg/day on the fourteenth day. Conclusions: Adherence to the ESPGHAN, ESPEN, ESPRguidelines in the prescription of parenteral nutrition is accept-able, with this being much higher on the fifth day. It is likelythat this is related to the weight evolution found:(AU)

Personalized Versus Non-personalized Nutritional Recommendations/Interventions for Type 2 Diabetes Mellitus Remission: A Narrative Review.

It is a well-evidenced fact that diet significantly impacts type 2 diabetes mellitus (T2DM) prevention and management. However, dietary responses vary among different populations, necessitating personalized recommendations. Substantial evidence supports the role of diet in T2DM remission, particularly low-energy or low-carbohydrate diets that facilitate weight loss, enhance glycemic control, and achieve remission. This review aims to comprehensively analyze and compare personalized nutritional interventions with non-personalized approaches in T2DM remission. We conducted a literature search using the Academy of Nutrition and Dietetics guidelines, focusing on clinical and observational trials published within the past decade. We present the strengths and drawbacks of incorporating personalized nutrition into practice, along with the areas for research in implementing personalized interventions, such as cost-effectiveness and accessibility. The findings reveal consistently higher diabetes remission rates in personalized nutrition studies compared to non-personalized interventions.

Laboratory reflex testing strategy for the early identification of primary care patients with multiple myeloma.

OBJECTIVES: Our objective was to shorten the screen for multiple myeloma (MM), through reflex testing. DESIGN AND METHODS: The clinical laboratory in the public University Hospital of San Juan (Alicante, Spain), serves 234,551 inhabitants. Through an intervention agreed with general practitioners, the Laboratory Information System (LIS) automatically registered serum immunoglobulins (Ig) when serum total proteins (STP) > 80 g/L for the first time in primary care patients. When concomitantly one Ig presented a value above and one below its reference interval, the LIS automatically registered a serum protein electrophoresis (SPEP). When a monoclonal peak in SPEP, immunofixation electrophoresis (IFE) for the typification of monoclonal bands (MB) was performed. If MB were present, a comment in the report explained the intervention. The number of additionally registered Ig, SPEP, IFE, and new diagnosis of MM were counted. The number of days elapsed from the report of elevated STP result to the final MM diagnosis was also counted as median and interquartile range (IQR), and compared to a pre intervention period. RESULTS: 2071 cases of hyperproteinemia were identified, and had 91 a monoclonal peak, confirmed by IFE. In 35 patients it was a new finding, and 9 were diagnosed with MM, 3 Waldestrom macroglobulinemia, 2 lymphoplasmacytic lymphoma and 21 monoclonal gammopathy of undetermined significance. The number of days elapsed from hyperproteinemia to diagnosis was lower in the intervention period (21.5 vs 119.4) (P < 0.01). As our results show, in addition to shortening the time to diagnosis, an increased rate of detection of plasma cell disorders was observed when using our algorithm. CONCLUSIONS: The above laboratory interventions agreed with clinicians, making use of laboratory technology resulted in early identification of MM.

De-escalating treatment indications for patients who achieve metabolic goals.

INTRODUCTION: Robust evidence exists regarding initiation, intensification or modification of treatments. Recommendations to de-escalate therapy are lacking, specifically in diabetes. A successful treatment de-intensification reduces overtreatment, polypharmacy, and risk of adverse effects. OBJECTIVE: To encompass current recommendations for deprescribing common drugs and create a consensus among health professionals. METHODS: We reviewed four databases for deprescribing approaches published between 2010 and 2022. Articles were divided into different groups of drugs (for uric-acid, hypoglycemic, lipid-lowering, and psychotropic drugs). RESULTS: Hypoglycemic agents: strategies were limited to newer agents and insulin regimens for elderly individuals. Reducing insulin was associated with 1.1% reduction of A1c over time. SGLT2i and GLP-1RAs dose reduction depends on adverse events. Lipid-lowering agents: studies show that patients with very low cholesterol have fewer cardiovascular events without associated increased risk. Antihypertensive agents: Younger patients, lower systolic blood pressure, and few comorbidities are ideal characteristics for discontinuation. Uric acid therapy: we found no recommendation for dose de-escalation. Poor treatment adherence is associated with episodes of gout and deforming arthritis in the long term. CONCLUSION: Deprescribing hypoglycemic, statins, antihypertensives, and urate-lowering agents may be feasible in selected patients, but periodic surveillance is important. More evidence is necessary to support this decision entirely.

Double positivity for rheumatoid factor and anti-CCP autoantibodies: improving referral from primary care of patients suspected of having rheumatoid arthritis.

BACKGROUND: Rheumatoid arthritis (RA) is a chronic progressive autoimmune inflammatory disease with significant morbidity and mortality. The course of the disease can be modified if diagnosis is early and treatment appropriate. AIM: In this study, we aimed to evaluate a new strategy for early identification of RA patients in primary care settings (the 'diagnostic bottleneck') based on serological biomarkers and to manage inappropriate rheumatoid factor (RF) laboratory test requests. METHOD: A two-arm study was carried out. The first arm corresponded to a retrospective observational descriptive study of patients referred for RF testing from primary care using the current laboratory workflow. The second arm included the following prospective interventions: cancelation of RF requests corresponding to patients with previous negative results for RF over a one-year period; and automatic reflex testing antibodies against cyclic citrullinated proteins (anti-CCP) for patients displaying RF values >30 IU/ml. Outcomes from both arms were then compared. FINDINGS: As double positivity for RF and anti-CCP notably increases the positive likelihood ratio of RA. The intervention enabled a reduction of 2813 tests in 22 months. Moreover, the frequency of unnecessary referrals was reduced from 22% to 8.2%, while that of missed patients decreased slightly (from 21% to 16%), with the number of patients diagnosed per RF request remaining unchanged. In terms of costs, we saved 19.4 RF tests per anti-CCP test added.We developed a simple and cost-effective strategy for reducing the time to diagnosis of RA that can improve patients' quality of life. This approach was supported by primary and specialised care.

Anxiety but not menopausal status influences the risk of long-COVID-19 syndrome in women living in Latin America.

OBJECTIVE: To study sociodemographic and clinical factors associated with the long-COVID-19 syndrome among women living in Latin American countries using undirected and directed methods. METHOD: We studied 347 patients with COVID-19 (confirmed by polymerase chain reaction) living in nine Latin American countries between May 2021 and July 2022, including 70 premenopausal, 48 perimenopausal, and 229 postmenopausal women. We compared the sociodemographic and general health information of women with (n = 164) and without (n = 183) the long-COVID-19 syndrome. They also completed the Connor-Davidson Resilience Scale, the Fear of COVID-19 Scale, the Jenkins Sleep Scale, and the Menopause Rating Scale to define the minimum set of variables for adjustment. We designed a directed acyclic graph (DAG) to identify factors related to the long-COVID-19 syndrome. Data were submitted to categorical logistic regression analyses. Results are reported as means and standard deviations or ß-coefficients and 95 % confidence intervals. RESULTS: Women with long-COVID-19 syndrome had a poor lifestyle, severe menopause symptoms, hypertension, insomnia, depression, anxiety, chronic diseases/conditions, risk of hospitalization, sleep disturbance, and low menopause-related quality of life compared to women without the syndrome. The DAG identified the following long-COVID-19 covariates: age, obesity, anxiety, depression, cancer, lifestyle, smoking, and menstrual status. A multivariable logistic model with these covariates indicated that anxiety is the only factor to be significantly associated with long-COVID-19 syndrome, whereas other covariates were confounding factors. There was no significant influence of menopausal status on the long-COVID-19 syndrome. CONCLUSION: Among factors selected by the DAG, only anxiety was significantly associated with the long-COVID-19. There was no significant influence of the menopause status on the long-COVID-19 syndrome in the studied population.

Role of Presurgical Gut Microbial Diversity in Roux-en-Y Gastric Bypass Weight-Loss Response: A Cohort Study.

INTRODUCTION: Roux-en-Y gastric bypass (RYGB) substantially alters the gut microbial composition which could be associated with the metabolic improvements seen after surgery. Few studies have been conducted in Latin American populations, such as Mexico, where obesity prevalence is above 30% in the adult population. Thus, the aim of this study was to characterize the changes in the gut microbiota structure in a Mexican cohort before and after RYGB and to explore whether surgery-related changes in the microbial community were associated with weight loss. METHODS: Biological samples from patients who underwent RYGB were examined before and 12 months after surgery. Fecal microbiota characterization was performed through 16S rRNA sequencing. RESULTS: Twenty patients who underwent RYGB showed a median excess weight loss of 66.8% 12 months after surgery. Surgery increased alpha diversity estimates (Chao, Shannon index, and observed operational taxonomic units, p < 0.05) and significantly altered gut microbiota composition. Abundance of four genera was significantly increased after surgery: Oscillospira, Veillonella, Streptococcus, and an unclassified genus from Enterobacteriaceae family (PFDR < 0.1). The change in Veillonella abundance was associated with lower excess weight loss (rho = -0.446, p = 0.063) and its abundance post-surgery with a greater BMI (rho = 0.732, p = 5.4 × 10-4). In subjects without type 2 diabetes, lower bacterial richness and diversity before surgery were associated with a greater Veillonella increase after surgery (p < 0.05), suggesting that a lower bacterial richness before surgery could favor the bloom of certain oral-derived bacteria that could negatively impact weight loss. CONCLUSION: Presurgical microbiota profile may favor certain bacterial changes associated with less successful results.

Improving diagnosis and treatment of hypomagnesemia.

Magnesium is one of the most abundant cations in the body and acts as a cofactor in more than 600 biochemical reactions. Hypomagnesemia is a highly prevalent condition, especially in subjects with comorbid conditions, but has received less attention than other electrolyte disturbances. This review will discuss magnesium physiology, absorption, storage, distribution across the body, and kidney excretion. After reviewing the regulation of magnesium homeostasis, we will focus on the etiology and clinical presentation of hypomagnesemia. The role of laboratory medicine in hypomagnesemia will be the main purpose of this review, and we will discuss the laboratory tests and different samples and methods for its measurement. Although free magnesium is physiologically active, total serum magnesium is the most commonly used measurement in laboratory medicine and is apt for clinical purposes; however, it is not appropriately used, and many patients with hypomagnesemia remain undiagnosed and not treated. Using information technologies, laboratory medicine can largely improve the diagnosis and treatment of hypomagnesemia through the design and establishment of automatic demand management and result management interventions by acting in the first and last steps of the laboratory cycle, test requests, and actions taken after test results, to unmask patients with hypomagnesemia and improve the number of patients undergoing treatment.

Associated factors to the consumption of non-nutritive sweeteners in the Mexican adult population.

OBJECTIVE: To identify the associated factors to the consumption of non-nutritive sweeteners (NNS) in the Mexican adult population since its consumption has increased exponentially worldwide. MATERIALS AND METHODS: An online survey was applied to 5 038 Mexican adults to evaluate the frequency of NNS consumption and classify the population in tertiles. The sociodemographic, lifestyle and health status characteristics of the participants were compared by gradient of NNS consumption, and a multiple linear regression analysis was performed to determine the associated factors to the NNS consumption. RESULTS: The variables that showed a positive association (p≤0.01) with the consumption of NNS were economic income, BMI, smoking, physical activity, diet quality, the presence of chronic diseases (diabetes, hypertension, or dyslipidemias), and the consumption of fruit. The age and the consumption of confectionery and sugar-sweetened beverages were negatively associated (p<0.01) with the consumption of NNS. CONCLUSION: The results of this study help to characterize the target population that is a consumer of NNS since it is recommended not encourage the preference for sweet taste and to promote a decrease in the consumption of both caloric and NNS, preferring the natural flavor of food.

Tamizaje, prevalencia, diagnóstico previo, tratamiento y control de hipertensión, hipercolesterolemia y diabetes en adultos mexicanos. Ensanut 2022.

OBJETIVO: Describir las estimaciones de tamizaje, prevalencia, diagnóstico previo, tratamiento y control de hipertensión, hipercolesterolemia y diabetes, así como sus factores asociados en los adultos mexicanos. Material y métodos. Se utilizó información de los adultos de 20 años o más participantes de la Encuesta Nacional de Salud y Nutrición 2022 (Ensanut 2022). Se presentan estimaciones de prevalencias con sus intervalos de confianza al 95%, y modelos de regresión logística múltiple para cada padecimiento, con factores asociados al tamizaje, diagnóstico previo, tratamiento y control. RESULTADOS: El tamizaje de estas tres enfermedades es bajo, menor a 15%. La prevalencia de hipercolesterolemia y de diabetes es de 18% y la de hipertensión es 27.8%; cerca de la mitad conoce su diagnóstico. La proporción de pacientes con tratamiento farmacológico ha incrementado, pero menos de la mitad está en control. Conclusión. Es recomendable que la detección de estas enfermedades se haga de manera integrada con otros factores de riesgo cardiovascular. Se necesita aumentar los porcentajes de tamizaje, incrementar la proporción de enfermos con diagnóstico previo, mejorar el porcentaje de tratamiento médico de estas enfermedades y, sobre todo, aumentar la proporción de enfermos con tratamiento en control metabólico.

Prevalencia de prediabetes y diabetes en México: Ensanut 2022.

OBJETIVO: Estimar la prevalencia de prediabetes y diabetes en la población adulta mexicana. Material y métodos. Se utilizó información de la submuestra de adultos de la Encuesta Nacional de Salud y Nutrición 2022 con una muestra de sangre de 10 ml. Se excluyeron 150 individuos con ayuno menor a 8 horas y cuatro personas con diabetes gestacional. La muestra final fue de 1 945 adultos que expande a 78.3 millones de adultos. RESULTADOS: La prevalencia de prediabetes fue de 22.1%, y de diabetes diagnosticada y no diagnosticada de 12.6 y 5.8%, respectivamente, lo que resulta en una prevalencia de diabetes total de 18.3%. Conclusión. La diabetes en México es muy prevalente e implica un reto importante para el sistema de salud. Se requieren acciones contundentes para prevenir la enfermedad, mejorar el tamizaje, el diagnóstico oportuno y el control de la enfermedad.

Development of a low pollution medium for the cultivation of lactic acid bacteria.

Protein rich culture media are employed in the production of lactic acid bacteria (LAB); however, production costs are high. In this work media formulation and evaluation for LAB production were conducted considering physiological properties of lactic acid bacteria. Consumption efficiency (E), yield production (Y) and specific substrate consumption rate (qS) values as response variables were used. Four culture media were used: (1) Man Rogosa Sharp (MRS); (2) cabbage liquor (MC); (3) a new balanced culture medium (MX); and (4) MX supplemented with cabbage liquor (MXC). The culture media were evaluated using two strains: Lactobacillus acidophilus ATCC 4356 and Lactiplantibacillus plantarum ATCC 10241. The EGLU for L. plantarum was 100 % in the three media and YX/S value was 0.02 ± 0.003 in MRS and MX, while YLAC/S was 0.57 ± 0.03 in MRS and 0.51 ± 0.02 in MX. In MXC, the value obtained for YX/S was 0.07 ± 0.002 while YLAC/S was 0.47 ± 0.04. Specific glucose consumption and lactate formation rates for L. plantarum in MRS and MX media did not show significant differences. These results suggest that MX and MXC can be used for efficient production of the LAB at low cost.

Natal teeth in premature neonates, products of twin gestation. A case report

Se presenta el caso de 02 recién nacidas gemelares, pre-términos tardíos, producto de gestación monocoriónica - biamniótica con presencia de dientes natales, los cuáles requirieron evaluación odontológica para definir la mejor conducta a seguir y con ello evitar riesgos o desenlaces fatales como la aspiración hacia bronquios. La evaluación evidenció escasa movilidad de piezas dentarias en ambos casos, por lo que se recomendó mantener los dientes; del mismo modo, se dio consejería a los padres sobre la higiene y cuidado de la salud bucal de sus hijas con control ambulatorio a los 3 meses.

We present the case of 2 twin newborns, late preterm, who were a product of monochorionic - diamniotic gestation and presented with natal teeth, which required a dental evaluation to define the best management strategy and thereby avoid risks or fatal outcomes such as bronchial aspiration. The evaluation showed little mobility of teeth in both cases, so it was recommended to keep the teeth. The parents were counseled on proper oral health care and hygiene for their daughters and scheduled for an outpatient follow-up at 3 months.

Performance of the enhanced Sampson-NIH equation for VLDL-C and LDL-C in a population with familial combined hyperlipidemia.

INTRODUCTION: Low-density cholesterol (LDL-C) has long been estimated by the Friedewald formula (F-LDL-C); however, this method underestimates LDL-C in patients with hypertriglyceridemia (HTG) or low LDL-C levels. The Martin (M-LDL-C) and Sampson (S-LDL-C) formulas partially resolve these limitations. Recently, Sampson et al. developed a new equation (eS-VLDL-C) that includes ApoB. This new equation could be particularly useful in FCHL, which is characterized by the predominance of triglyceride-rich VLDL and a discordance between LDL-C and ApoB. METHODS: Very low-density lipoproteins (VLDL-C) was measured in 336 patients with FCHL by sequential ultracentrifugation. LDL-C was estimated by subtracting VLDL-C, estimated by the different equations, from non-HDL cholesterol. Spearman correlations, R2, mean squared error (RMSE), and bias were used to compare the accuracy of the different equations. Concordance of the estimated LDL-C values with LDL-C thresholds and ApoB was also assessed by their kappa coefficients and ROC analysis. RESULTS: Overall population had a mean age of 47 years, and 61.5% were women. 19.5% had type 2 diabetes, hypertension was present in 20.8%, and only 12.2% were on statin treatment. Both S-LDL-C and eS-LDL-C performed similarly, and better than M-LDL-C and F-LDL-C. In Bland-Altman analysis, eS-LDL-C showed the lowest bias, better performance in HTG, and better concordance with LDL-C treatment goals compared to other formulas (e.g. ρ: 0.87, 95% CI 0.84-0.89). CONCLUSIONS: LDL-S and LDL-eS equations estimate the concentration of LDL-C with greater accuracy than other formulas. The LDL-eS has best performance in estimating LDL-C with lower RMSE than other formulas.

Stratification in Heterozygous Familial Hypercholesterolemia: Imaging, Biomarkers, and Genetic Testing.

PURPOSE OF REVIEW: Heterozygous familial hypercholesterolemia (HeFH) is the most common monogenic autosomal dominant disorder. However, the condition is often underdiagnosed and undertreated. The objective of this review is to provide an update on the risk stratification in patients with HeFH, incorporating new cardiovascular imaging techniques, various biomarkers, and genetic studies. RECENT FINDINGS: The diagnosis of HeFH places patients in a high cardiovascular risk category due to the increased incidence of premature atherosclerotic cardiovascular disease. However, the level of risk varies significantly among different individuals with HeFH. Achieving an optimal stratification of cardiovascular risk is crucial for establishing appropriate and accurate treatment and management strategies. Different new tools such as risk scores have emerged in recent years, aiding physicians in assessing the risk stratification for HeFH using imaging, biomarkers, and genetics. This review emphasizes that not all patients with HeFH face the same cardiovascular risk. By utilizing different assessment tools, we can identify those who require more intensive monitoring, follow-up, and treatment.

Effect of a monitored exercise protocol in cerebral and hepatic hemodynamics in patients with cirrhosis and portal hypertension.

BACKGROUND: Physical exercise (PE) has been proven to be beneficial in patients with cirrhosis; effects in cognitive function and cerebral hemodynamics, are yet to be explored. AIM: To evaluate the effects of a PE program (LFN-exercise protocol) in hepatic/cerebral hemodynamics. METHODS: Randomized open clinical trial in patients with cirrhosis; Control: Diet(n = 13),Intervention: Diet + exercise(n = 14) for 12 weeks. Patients received an educational session, mental exercises (printed book and sudoku), and high-protein diet. Exercise intervention consisted of walking 4 times/week with an intensity rated between 12 and 14 on the Borg scale, monitored through bracelet accelerometers. Patients received weekly text messages to encourage adherence and had monthly in-person visits. RESULTS: Patients were mainly Child-Pugh A(88.9 %), median MELD 8(8-10), mean age 53±8 years. In the exercise group the number of steps increased from 9667±3008 to 11,931±4463 (p = 0.002), vs 8004±3224 to 8903±3504 (p = 0.053) in controls. Exercise decreased HVPG from 11(8-14) to 8(6-11)mmHg (p = 0.032) vs no change in the control group from 14(12-16) to 15(11-17)mmHg (p = 0.959). Intervention group showed better cerebral hemodynamics, cognitive function, nutritional status and quality of life after the intervention. Adherence was >90 %, with no adverse events. CONCLUSION: The LFN-exercise protocol improves portal hypertension, cerebral hemodynamics and cognitive function, as well as nutritional status and quality of life. GOV NUMBER: NCT03932552.

The case for precision medicine in the prevention, diagnosis, and treatment of cardiometabolic diseases in low-income and middle-income countries.

Cardiometabolic diseases are the leading preventable causes of death in most geographies. The causes, clinical presentations, and pathogenesis of cardiometabolic diseases vary greatly worldwide, as do the resources and strategies needed to prevent and treat them. Therefore, there is no single solution and health care should be optimised, if not to the individual (ie, personalised health care), then at least to population subgroups (ie, precision medicine). This optimisation should involve tailoring health care to individual disease characteristics according to ethnicity, biology, behaviour, environment, and subjective person-level characteristics. The capacity and availability of local resources and infrastructures should also be considered. Evidence needed for equitable precision medicine cannot be generated without adequate data from all target populations, and the idea that research done in high-income countries will transfer adequately to low-income and middle-income countries (LMICs) is problematic, as many migration studies and transethnic comparisons have shown. However, most data for precision medicine research are derived from people of European ancestry living in high-income countries. In this Series paper, we discuss the case for precision medicine for cardiometabolic diseases in LMICs, the barriers and enablers, and key considerations for implementation. We focus on three propositions: first, failure to explore and implement precision medicine for cardiometabolic disease in LMICs will enhance global health disparities. Second, some LMICs might already be placed to implement cardiometabolic precision medicine under appropriate circumstances, owing to progress made in treating infectious diseases. Third, improvements in population health from precision medicine are most probably asymptotic; the greatest gains are more likely to be obtained in countries where health-care systems are less developed. We outline key recommendations for implementation of precision medicine approaches in LMICs.