An Update on the Genetic Drivers of Corticotroph Tumorigenesis.

The genetic landscape of corticotroph tumours of the pituitary gland has dramatically changed over the last 10 years. Somatic changes in the USP8 gene account for the most common genetic defect in corticotrophinomas, especially in females, while variants in TP53 or ATRX are associated with a subset of aggressive tumours. Germline defects have also been identified in patients with Cushing's disease: some are well-established (MEN1, CDKN1B, DICER1), while others are rare and could represent coincidences. In this review, we summarise the current knowledge on the genetic drivers of corticotroph tumorigenesis, their molecular consequences, and their impact on the clinical presentation and prognosis.

Study protocol and rationale of "the UP project": evaluating the effectiveness of active breaks on health indicators in desk-based workers.

Background: Excessive sedentary time has been negatively associated with several health outcomes, and physical activity alone does not seem to fully counteract these consequences. This panorama emphasizes the essential of sedentary time interruption programs. "The Up Project" seeks to assess the effectiveness of two interventions, one incorporating active breaks led by a professional and the other utilizing a computer application (self-led), of both equivalent duration and intensity. These interventions will be compared with a control group to evaluate their impact on physical activity levels, sedentary time, stress perception, occupational pain, and cardiometabolic risk factors among office workers. Methods: This quasi-experimental study includes 60 desk-based workers from universities and educational institutes in Valparaiso, Chile, assigned to three groups: (a) booster breaks led by professionals, (b) computer prompts that are unled, and (c) a control group. The intervention protocol for both experimental groups will last 12 weeks (only weekdays). The following measurements will be performed at baseline and post-intervention: cardiometabolic risk based on body composition (fat mass, fat-free mass, and bone mass evaluated by DXA), waist circumference, blood pressure, resting heart rate, and handgrip strength. Physical activity and sedentary time will be self-reported and device-based assessed using accelerometry. Questionnaires will be used to determine the perception of stress and occupational pain. Discussion: Governments worldwide are addressing health issues associated with sedentary behavior, particularly concerning individuals highly exposed to it, such as desk-based workers. Despite implementing certain strategies, there remains a noticeable gap in comprehensive research comparing diverse protocols. For instance, studies that contrast the outcomes of interventions led by professionals with those prompted by computers are scarce. This ongoing project is expected to contribute to evidence-based interventions targeting reduced perceived stress levels and enhancing desk-based employees' mental and physical well-being. The implications of these findings could have the capacity to lay the groundwork for future public health initiatives and government-funded programs.

Refractoriness to anti-Helicobacter pylori treatment attributed to phenotypic resistance patterns in patients with gastroduodenopathy in Guayaquil-Ecuador.

BACKGROUND: Treatment of Helicobacter pylori gastric infection is complex and associated with increased rates of therapeutic failure. This research aimed to characterize the H. pylori infection status, strain resistance to antimicrobial agents, and the predominant lesion pattern in the gastroduodenal mucosa of patients with clinical suspicion of refractoriness to first- and second-line treatment who were diagnosed and treated in a health center in Guayaquil, Ecuador. METHODS: A total of 374 patients with upper gastrointestinal symptoms and H. pylori infection were preselected and prescribed one of three triple therapy regimens for primary infection, as judged by the treating physician. Subsequently, 121 patients who returned to the follow-up visit with persistent symptoms after treatment were studied. RESULTS: All patients had H. pylori infection. Histopathological examination diagnosed chronic active gastritis in 91.7% of cases; premalignant lesions were observed in 15.8%. The three triple therapy schemes applied showed suboptimal efficacy (between 47.6% and 77.2%), with the best performance corresponding to the scheme consisting of a proton pump inhibitor + amoxicillin + levofloxacin. Bacterial strains showed very high phenotypic resistance to all five antimicrobials tested: clarithromycin, 82.9%; metronidazole, 69.7%; amoxicillin and levofloxacin, almost 50%; tetracycline, 38.2%. Concurrent resistance to clarithromycin-amoxicillin was 43.4%, to tetracycline-metronidazole 30.3%, to amoxicillin-levofloxacin 27.6%, and to clarithromycin-metronidazole 59.2%. CONCLUSIONS: In vitro testing revealed resistance to all five antibiotics, indicating that H. pylori exhibited resistance phenotypes to these antibiotics. Consequently, the effectiveness of triple treatments may be compromised, and further studies are needed to assess refractoriness in quadruple and concomitant therapies.

Genetic diagnosis in acromegaly and gigantism: From research to clinical practice.

It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to inheritable causes. Since this estimate was reported, however, multiple genetic defects driving syndromic and nonsyndromic somatotrophinomas have been unveiled. This heterogeneous genetic background results in overlapping phenotypes of GH excess. Genetic tests should be part of the approach to patients with acromegaly and gigantism because they can refine the clinical diagnoses, opening the possibility to tailor the clinical conduct to each patient. Even more, genetic testing and clinical screening of at-risk individuals have a positive impact on disease outcomes, by allowing for the timely detection and treatment of somatotrophinomas at early stages. Future research should focus on determining the actual frequency of novel genetic drivers of somatotrophinomas in the general population, developing up-to-date disease-specific multi-gene panels for clinical use, and finding strategies to improve access to modern genetic testing worldwide.

Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors.

The most common genetic drivers of pituitary neuroendocrine tumors (PitNETs) lie within mutational hotspots, which are genomic regions where variants tend to cluster. Some of these hotspot defects are unique to PitNETs, while others are associated with additional neoplasms. Hotspot variants in GNAS and USP8 are the most common genetic causes of acromegaly and Cushing's disease, respectively. Although it has been proposed that these genetic defects could define specific clinical phenotypes, results are highly variable among studies. In contrast, DICER1 hotspot variants are associated with a familial syndrome of cancer predisposition, and only exceptionally occur as somatic changes. A small number of non-USP8-driven corticotropinomas are due to somatic hotspot variants in USP48 or BRAF; the latter is a well-known mutational hotspot in cancer. Finally, somatic variants affecting a hotspot in SF3B1 have been associated with multiple cancers and, more recently, with prolactinomas. Since the associations of BRAF, USP48, and SF3B1 hotspot variants with PitNETs are very recent, their effects on clinical phenotypes are still unknown. Further research is required to fully define the role of these genetic defects as disease biomarkers and therapeutic targets.

Automedicación en salud bucal en Bogotá: estudio etnográfico / Self-medication in oral health in Bogota: ethnographic study

Introducción: la automedicación en salud bucal es una práctica censurada por la biomedicina; sin embargo, es una actividad frecuente que sintetiza la interacción de las personas con diferentes modelos de atención a la salud, en donde se materializa la trama estructural y simbólica del campo sanitario. El objetivo de este estudio fue comprender los saberes y prácticas sobre automedicación salud bucal en Bogotá. Métodos: investigación cualitativa con enfoque etnográfico. Se utilizaron herramientas como observación participante, entrevista etnográfica y diario de campo. Se eligieron siete familias de Bogotá a partir de una muestra tipológica ideal. Resultados: existen barreras de acceso a la atención odontológica que se incrementan a través de mecanismos de segregación que se relacionan con la estructura urbana de la ciudad, barreras que motivan la utilización de diversos medicamentos frente a las dolencias. La boca tiene diversos significados. Se reconoce la caries y sus efectos, y en su prevención se usan sedas, pastas, enjuagues y cepillos, elementos que proceden de la industria farmacéutica. El padecimiento más común es la odontalgia y para tratarla se utilizan principalmente analgésicos de origen farmacéutico. Conclusiones: la automedicación en salud bucal es un proceso consciente que realizan los sujetos desde sus propios razonamientos y recursos, con el propósito de prevenir y atender sus dolencias. Esta práctica se relaciona con las representaciones sociales sobre la boca, con el acceso a los servicios de atención odontológica, y con la disposición y obtención de insumos terapéuticos.

Introduction: self-medication in oral health is a practice censured by biomedicine; however, it is a frequent activity that synthesizes the interaction of people with different models of health care, where the structural and symbolic fabric of the health field materializes. The objective was to understand the knowledge and practices on oral health self-medication in Bogota. Methods: qualitative research with ethnographic approach. Tools such as participant observation, ethnographic interview and field diary were used. Seven families from Bogota were chosen from an ideal typological sample. Results: there are barriers to access to dental care that are increased through segregation mechanisms that are related to the urban structure of the city, barriers that motivate the use of various medications in the face of ailments. The mouth has diverse meanings. Caries and its effects are recognized, and in its prevention silks, pastes, rinses and brushes are used, elements that come from the pharmaceutical industry. The most common ailment is odontalgia, and analgesics of pharmaceutical origin are mainly used to treat it. Conclusions: self-medication in oral health is a conscious process carried out by the subjects from their own reasoning and resources, to prevent and treat their ailments. This practice is related to social representations about the mouth, to access to dental care services, and to the availability and obtaining of therapeutic supplies.

Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease.

Cushing's disease (CD) is a life-threatening condition with a challenging diagnostic process and scarce treatment options. CD is caused by usually benign adrenocorticotrophic hormone (ACTH)-secreting pituitary neuroendocrine tumors (PitNETs), known as corticotropinomas. These tumors are predominantly of sporadic origin, and usually derive from the monoclonal expansion of a mutated cell. Somatic activating variants located within a hotspot of the USP8 gene are present in 11-62% of corticotropinomas, making USP8 the most frequent genetic driver of corticotroph neoplasia. In contrast, other somatic defects such as those affecting the glucocorticoid receptor gene (NR3C1), the BRAF oncogene, the deubiquitinase-encoding gene USP48, and TP53 are infrequent. Moreover, patients with familial tumor syndromes, such as multiple endocrine neoplasia, familial isolated pituitary adenoma, and DICER1 rarely develop corticotropinomas. One of the main molecular alterations in USP8-driven tumors is an overactivation of the epidermal growth factor receptor (EGFR) signaling pathway, which induces ACTH production. Hotspot USP8 variants lead to persistent EGFR overexpression, thereby perpetuating the hyper-synthesis of ACTH. More importantly, they condition a characteristic transcriptomic signature that might be useful for the clinical prognosis of patients with CD. Nevertheless, the clinical phenotype associated with USP8 variants is less well defined. Hereby we discuss the current knowledge on the molecular pathogenesis and clinical picture associated with USP8 hotspot variants. We focus on the potential significance of the USP8 mutational status for the design of tailored clinical strategies in CD.

Cadmium (Cd) distribution and soil-plant relationship in cacao farms in Costa Rica.

The current cadmium (Cd) regulations in chocolate threaten the cacao supply chain in several Latin American countries. The factors contributing to Cd accumulation in cacao beans have been poorly studied in Central America. The objective of this research was to identify the location of Cd hotspots as well as soil properties and management practices influencing the Cd concentration in cacao beans. A survey was carried out and soil, leaf, and beans were sampled from 150 farms in the three principal cacao-producing regions in Costa Rica. Total soil Cd concentration ranged from <0.1 to 1.05 (average 0.22 mg kg-1) which is typical of uncontaminated soils. Bean Cd concentration ranged from 0.12 to 3.23 (average 0.56 mg kg-1) and 22% of the samples exceeded the selected threshold of 0.80 mg kg-1, located mostly in the Huetar Caribe and Huetar Norte regions. Variability in bean Cd concentration was better explained by total soil Cd and soil organic carbon (SOC) (R2 = 0.62, p < 0.05). In addition, bean Cd concentration was affected by leaf nutrient content and management practices. Leaf Zn and P were positively correlated with bean Cd while K and Mn were negatively correlated (p < 0.05). Farm altitude and orchard age were also negatively correlated with bean Cd. Overall, this study shows that bean Cd contamination does not reach the extent observed in other Latin American countries such as Ecuador, Colombia, or Honduras. Nevertheless, research is needed in hotspot areas to assess the feasibility of potential mitigation strategies, particularly the use of mineral or organic soil amendments, which may allow better for planning in existing plantations or the expansion into new cacao-growing areas in the country.

High seroprevalence of Leishmania infantum is linked to immune activation in people with HIV: a two-stage cross-sectional study in Bahia, Brazil.

Visceral leishmaniasis is an opportunistic disease in HIV-1 infected individuals, unrecognized as a determining factor for AIDS diagnosis. The growing geographical overlap of HIV-1 and Leishmania infections is an emerging challenge worldwide, as co-infection increases morbidity and mortality for both infections. Here, we determined the prevalence of people living with HIV (PWH) with a previous or ongoing infection by Leishmania infantum and investigated the virological and immunological factors associated with co-infection. We adopted a two-stage cross-sectional cohort (CSC) design (CSC-I, n = 5,346 and CSC-II, n = 317) of treatment-naïve HIV-1-infected individuals in Bahia, Brazil. In CSC-I, samples collected between 1998 and 2013 were used for serological screening for leishmaniasis by an in-house Enzyme-Linked Immunosorbent Assay (ELISA) with SLA (Soluble Leishmania infantum Antigen), resulting in a prevalence of previous or ongoing infection of 16.27%. Next, 317 PWH were prospectively recruited from July 2014 to December 2015 with the collection of sociodemographic and clinical data. Serological validation by two different immunoassays confirmed a prevalence of 15.46 and 8.20% by anti-SLA, and anti-HSP70 serology, respectively, whereas 4.73% were double-positive (DP). Stratification of these 317 individuals in DP and double-negative (DN) revealed a significant reduction of CD4+ counts and CD4+/CD8+ ratios and a tendency of increased viral load in the DP group, as compared to DN. No statistical differences in HIV-1 subtype distribution were observed between the two groups. However, we found a significant increase of CXCL10 (p = 0.0076) and a tendency of increased CXCL9 (p = 0.061) in individuals with DP serology, demonstrating intensified immune activation in this group. These findings were corroborated at the transcriptome level in independent Leishmania- and HIV-1-infected cohorts (Swiss HIV Cohort and Piaui Northeast Brazil Cohort), indicating that CXCL10 transcripts are shared by the IFN-dominated immune activation gene signatures of both pathogens and positively correlated to viral load in untreated PWH. This study demonstrated a high prevalence of PWH with L. infantum seropositivity in Bahia, Brazil, linked to IFN-mediated immune activation and a significant decrease in CD4+ levels. Our results highlight the urgent need to increase awareness and define public health strategies for the management and prevention of HIV-1 and L. infantum co-infection.

Pentalogía de Cantrell diagnosticada en el primer trimestre: reporte de caso / Cantrell's pentalogy diagnosed in the first trimester: case report

La pentalogía de Cantrell es una rara anomalía congénita caracterizada por la asociación de ectopia cordis con defectos en la pared toracoabdominal, el diafragma, el esternón y pericárdicos, y anomalías cardíacas intrínsecas. En diagnóstico prenatal, la ecografía se utiliza sistemáticamente entre las 11 y 14 semanas de gestación, evaluando marcadores de alteraciones cromosómicas como la sonolucencia nucal, el hueso nasal y la morfología patológica del ductus venoso, entre otros. Además, permite examinar la anatomía fetal y diagnosticar anomalías mayores, como acrania-anencefalia, holoprosencefalia, defectos de la pared abdominal y toracoabdominal, entre los que se incluye la pentalogía de Cantrell. Se reporta un feto con los hallazgos clásicos de pentalogía de Cantrell, que fue expulsado a las 13 semanas de gestación bajo protocolo de interrupción voluntaria del embarazo. Madre de 23 años, G1P0, sin exposiciones teratogénicas, en cuyo feto se encontró ectopia cordis, asas intestinales e hígado por fuera de la cavidad abdominal en las 10 y 12 semanas de gestación. El objetivo de este estudio es aportar a la literatura un reporte de pentalogía de Cantrell, siendo el primero reportado en Colombia en el primer trimestre de gestación, mostrando la importancia de la ecografía sistemática durante este periodo, en el marco de la posibilidad de interrupción voluntaria del embarazo.

Cantrells pentalogy is a rare congenital anomaly characterized by the association of ectopia cordis with intrinsic cardiac anomalies and various anatomical defects found in the thoracoabdominal wall, diaphragm, sternum and pericardium. Ultrasound is used routinely between 11 and 14 weeks of gestation during prenatal diagnosis. It evaluates markers of chromosomal alterations such as nuchal sonolucency, the nasal bone, and the pathological morphology of the ductus venosus, among others. Furthermore, it allows the diagnosis of altered fetal anatomy and major abnormalities such as acrania-anencephaly, holoprosencephaly, abdominal and thoraco-abdominal wall defects including Cantrells pentalogy. In this case report, we present a fetus with the classic findings of Cantrells pentalogy, which was expelled during the 13th week of gestation under the protocol of voluntary interruption of pregnancy. The mother, a 23-year-old woman, G1P0, without teratogenic exposures, in whom during the routine ultrasound of the 10th and 12th weeks of gestation ectopia cordis, intestinal loops and liver outside the abdominal cavity were found on the fetus. The main objective of this study is to contribute to the literature a case report of pentalogy of Cantrell, diagnosed through prenatal ultrasound, being the first reported in Colombia during first trimester of gestation, showing the importance of routine ultrasound, in the context of access to a voluntary termination of pregnancy.

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.

Growth hormone (GH) binding to GH receptor activates janus kinase 2 (JAK2)-signal transducer and activator of transcription 5b (STAT5b) pathway, which stimulates transcription of insulin-like growth factor-1 (IGF1), insulin-like growth factor binding protein 3 (IGFBP3) and insulin-like growth factor acid-labile subunit (IGFALS). Although STAT5B deficiency was established as an autosomal recessive disorder, heterozygous dominant-negative STAT5B variants have been reported in patients with less severe growth deficit and milder immune dysfunction. We developed an in vivo functional assay in zebrafish to characterize the pathogenicity of three human STAT5B variants (p.Ala630Pro, p.Gln474Arg and p.Lys632Asn). Overexpression of human wild-type (WT) STAT5B mRNA and its variants led to a significant reduction of body length together with developmental malformations in zebrafish embryos. Overexpression of p.Ala630Pro, p.Gln474Arg or p.Lys632Asn led to an increased number of embryos with pericardial edema, cyclopia and bent spine compared with WT STAT5B. Although co-injection of WT and p.Gln474Arg and WT and p.Lys632Asn STAT5B mRNA in zebrafish embryos partially or fully rescues the length and the developmental malformations in zebrafish embryos, co-injection of WT and p.Ala630Pro STAT5B mRNA leads to a greater number of embryos with developmental malformations and a reduction in body length of these embryos. These results suggest that these variants could interfere with endogenous stat5.1 signaling through different mechanisms. In situ hybridization of zebrafish embryos overexpressing p.Gln474Arg and p.Lys632Asn STAT5B mRNA shows a reduction in igf1 expression. In conclusion, our study reveals the pathogenicity of the STAT5B variants studied.

Determinants of Clinical Behavior and Prognosis in Cushing's Disease: A Quest for Useful Biomarkers.

Abstract: Cushing's disease (CD) is the most common cause of endogenous hypercortisolemia. The clinical management of this condition is complex and entails multiple therapeutic strategies, treatment of chronic comorbidities, and lifelong surveillance for recurrences and complications. The identification of robust, practical, and reliable markers of disease behavior and prognosis could potentially allow for a tailored and cost-efficient management of each patient, as well as for a reduction of the medical procedure-associated stress. For this purpose, multiple clinical, biochemical, imaging, histopathological, molecular, and genetic features have been evaluated over the years. Only a handful of them, however, have been sufficiently validated for their application in the routine care of patients with CD. This review summarizes the current status of the established and potential biomarkers of CD, bases for their use, proposed and/or established utility, as well as advantages and barriers for their implementation in the clinic. (Rev Invest Clin. 2022;74(5):244-57).

Determinants of Clinical Behavior and Prognosis in Cushing's Disease: A Quest for Useful Biomarkers

ABSTRACT Cushing's disease (CD) is the most common cause of endogenous hypercortisolemia. The clinical management of this condition is complex and entails multiple therapeutic strategies, treatment of chronic comorbidities, and lifelong surveillance for recurrences and complications. The identification of robust, practical, and reliable markers of disease behavior and prognosis could potentially allow for a tailored and cost-efficient management of each patient, as well as for a reduction of the medical procedure-associated stress. For this purpose, multiple clinical, biochemical, imaging, histopathological, molecular, and genetic features have been evaluated over the years. Only a handful of them, however, have been sufficiently validated for their application in the routine care of patients with CD. This review summarizes the current status of the established and potential biomarkers of CD, bases for their use, proposed and/or established utility, as well as advantages and barriers for their implementation in the clinic.

Turing Instabilities and Rotating Spiral Waves in Glycolytic Processes.

We study single-frequency oscillations and pattern formation in the glycolytic process modeled by a reduction in the well-known Sel'kov's equations (Sel'kov in Eur J Biochem 4:79, 1968), which describe, in the whole cell, the phosphofructokinase enzyme reaction. By using averaging theory, we establish the existence conditions for limit cycles and their limiting average radius in the kinetic reaction equations. We analytically establish conditions on the model parameters for the appearance of unstable nonlinear modes seeding the formation of two-dimensional patterns in the form of classical spots and stripes. We also establish the existence of a Hopf bifurcation, which characterizes the reaction dynamics, producing glycolytic rotating spiral waves. We numerically establish parameter regions for the existence of these spiral waves and address their linear stability. We show that as the model tends toward a suppression of the relative source rate, the spiral wave solution loses stability. All our findings are validated by full numerical simulations of the model equations. Finally, we discuss in vitro evidence of spatiotemporal activity patterns found in glycolytic experiments, and propose plausible biological implications of our model results.

Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.

Context: Ectopic posterior pituitary (EPP), a condition in which the posterior pituitary gland is displaced due to defective neuronal migration, is frequently associated with hypopituitarism. Genetic variants play a role, but many cases remain unexplained. Objective: A large EPP cohort was studied to explore the importance of genetic variants and how they correlate with clinical findings. Methods: Whole exome sequencing was performed on a discovery sample of 27 cases to identify rare variants. The variants that met the criteria for rarity and biological relevance, or that were previously associated with EPP (ROBO1 and HESX1), were then resequenced in the 27 cases plus a replication sample of 51 cases. Results: We identified 16 different variants in 12 genes in 15 of the 78 cases (19.2%). Complete anterior pituitary deficiency was twice as common in cases with variants of interest compared to cases without variants (9/15 [60%] vs 19/63 [30.1%], respectively; Z test, P = 0.06). Breech presentation was more frequent in the variant positive group (5/15 vs 1/63; Z test, P = 0.003). Four cases had variants in ROBO1 and 1 in HESX1, genes previously associated with EPP. The ROBO1 p.S18* variant has not been reported previously; ROBO1 p.Q1227H has not been associated with EPP previously. Conclusion: EPP cases with variants of interest identified in this study were more likely to present with severe clinical disease. Several variants were identified in genes not previously associated with EPP. Our findings confirm that EPP is a multigenic disorder. Future studies are needed to identify additional genes.

Peripheral neuropathy in leprosy: Clinical manifestations and disability in a Colombian national referral center.

To aim of the paper was to describe the neurological features of the physical examination in patients with Hansen's disease who were treated in Bogotá, Colombia. We carried out a descriptive study of all patients with a Hansen's disease diagnosis treated at a referral center between 2003-2018. There were 327 eligible electronic health records (EHRs) with a final sample of 282 subjects. Leprosy was most common in males (57.45%), median age at the diagnosis was 54 years, and lesions of the lower limbs were more common (75.1%). The median time from disease onset to consult was 12 months. Most of them were classified as having lepromatous leprosy (39.7%). Pain over the median nerve trunk was the most common manifestation of disease (28%), followed by pain over the radial trunk (22%). Sensitive alterations were more common than motor ones. Specifically, the posterior tibial nerve was affected in nearly half of subjects. Dual impairment was more common in the ulnar nerve (13.8%). Some disability was apparent in 23.8% of subjects; predominantly grade 1 disability. Findings regarding age, leprosy type, and the frequency of individual nerve compromise were consistent with reports from other countries. Nerve trunk thickening was infrequent, which might be a consequence of subjectiveness in the examination and sample differences in sex distribution, degree of disability and time since disease onset. The frequency of morbidity and disability found in this sample, though low when compared with other series, fails to meet public health goals, including those limiting disability in younger subjects.

Diabetes tipo 2, síndrome metabólico y factores asociados en la ciudad de La Paz - Bolivia / Type 2 diabetes, metabolic syndrome and associated factors in the city of La Paz Bolivia

OBJETIVO: Determinar la prevalencia de diabetes tipo 2, síndrome metabólico, sobrepeso, obesidad, riesgo de diabetes tipo 2 y factores asociados en comerciantes de cinco mercados populares de la ciudad de La Paz, gestión 2017. MATERIAL Y MÉTODOS: Estudio transversal analítico, en comerciantes de un mercado por cada red urbana de salud, de ambos sexos y con edad mayor o igual a 18 años. En 4 de los 5 mercados se trabajó con la totalidad de la población, en la red 1 se calculó una muestra de 273. Las mediciones que se tomaron fueron datos generales, test de FINDRISC, antropometría, pruebas laboratoriales, presión arterial y recordatorio de 24 horas. RESULTADOS: Se obtuvo la información de 807 comerciantes, con edad de 49.21±14.2 años, el 90.42% mujeres, la prevalencia de diabetes fue 19.5%, síndrome metabólico 47%, sobrepeso 37.5%, obesidad 41.7%; riesgo de tener diabetes en 10 años es del 32.7%, de fumar por lo menos 1 cigarrillo al día, durante los últimos 6 meses es del 12.7% en mujeres y del 25.3% en varones; de consumo de riesgo de alcohol es del 20.8%, de sedentarismo del 58.6%; la dieta en mujeres es hipercalórica, hiperlipídica e hiperglusídica.CONCLUSIONES: La prevalencia de diabetes es 3 veces mayor al estimado del 2015 para Bolivia, la de síndrome metabólico más alta que la estimada en Sudamérica; los hábitos de vida son inadecuados y de riesgo.

OBJECTIVE: To determine the prevalence of type 2 diabetes, metabolic syndrome, overweight, obesity, risk of type 2 diabetes and associated factors in merchants of five popular markets in the city of La Paz, management 2017. MATERIAL AND METHODS: Analytical cross-sectional study of merchants in one market for each urban health network, of both sexes and aged 18 years or older. In 4 of the 5 markets we worked with the entire population, in network 1 a sample of 273 was calculated. The measurements that were taken were general data, FINDRISC test, anthropometry, laboratory tests, blood pressure and 24 recall hours. RESULTS: Information was obtained from 807 merchants, aged 49.21 ± 14.2 years, 90.42% women, the prevalence of diabetes was 19.5%, metabolic syndrome 47%, overweight 37.5%, obesity 41.7%; risk of having diabetes in 10 years is 32.7%, of smoking at least 1 cigarette a day, during the last 6 months it is 12.7% in women and 25.3% in men; risk consumption of alcohol is 20.8%, sedentary lifestyle is 58.6%; the diet in women is hypercaloric, hyperlipidic and hyperglusidic. CONCLUSIONS: The prevalence of diabetes is 3 times higher than the 2015 estimate for Bolivia, the metabolic syndrome prevalence higher than that estimated in South America; lifestyle habits are inappropriate and risky.

Vitamin D Receptor Gene Polymorphisms, ß-cell Function, and Vitamin D Status in Non-obese Mexican Adults.

BACKGROUND: FokI (rs2228570 T>C) and BsmI (rs1544410 A>G) polymorphisms of the vitamin D receptor (VDR) have been associated to abnormal glucose metabolism and could be inversely associated with ß-cell function (BCF) and vitamin D status. There is a lack of information about this topic in the Mexican population. AIM OF THE STUDY: To evaluate the relationship between VDR gene polymorphisms FokI and BsmI with BCF and vitamin D status in a population of non-obese Mexican adults. METHODS: A sample of 192 participants were enrolled during 2016-2018. Blood samples were collected to determine fasting concentrations of glucose, insulin, and vitamin D. Genomic DNA was isolated from leucocytes and the polymorphic variants of FokI and BsmI were analyzed. The Homeostasis Model Assessment Calculator was used to estimate the BCF (HOMA2-B). RESULTS: FokI polymorphism showed a frequency of 20.1% for homozygous TT carriers and 7.8% for the BsmI GG. The recessive model of FokI (TT genotype) showed a lower mean value of BCF compared to the combination of CC + CT (99.2 vs. 109.6%, p = 0.045). Likewise, significantly lower mean values of HOMA2-B and insulin were observed for BsmI (GG genotype, p = 0.016 and p = 0.039, respectively). After covariates adjustment, only FokI polymorphism remained as an independent predictor of BCF. CONCLUSIONS: the TT and GG variants of the FokI and BsmI polymorphisms are related to a decrease in FCB. In the case of FokI, this decrement was independent of insulin sensitivity, vitamin D levels, percentage of body fat, gender, and age.