Deciphering the gut microbiota of zebrafish, the most used fish as a biological model: A meta-analytic approach.

A meta-analytic approach deciphered the taxonomic profile of the zebrafish gut microbiota at different developmental stages. Data (16S rDNA) were systematically searched in databases, selecting those with intestine samples of fish not exposed to a particular treatment or challenge (e.g., pathogens, dietetic tests, xenobiotics, etc.) and obtaining 340 samples to be processed. Results revealed marked differences between the developmental phases. Proteobacteria was the dominant phylum in the larval phase, with a relative abundance of 90%, while the rest of the phyla did not exceed 2%. Vibrio, Aeromonas, Plesiomonas, Pseudomonas, Shewanella, and Acinetobacter were the dominant genera in this phase. Transitional changes were observed after the larvae stage. Proteobacteria still registered high abundance (48%) in the juvenile phase, but Fusobacteria (40%) and Bacteriodota (5.9%) registered considerable increases. Genera, including Cetobacterium, Plesiomonas, Aeromonas, Vibrio, and Flavobacterium, dominated this stage. The phyla Proteobacteria (48%) and Fusobacteria (35%) were strongly established in the adult phase. Cetobacterium was registered as the most abundant genus, followed by Aeromonas, Acinetobacter, Plesiomonas, Vibrio, and ZOR0006 (Firmicutes; 6%). In conclusion, the composition of the intestinal microbiota of zebrafish is consistently determined by two primary phyla, Proteobacteria and Fusobacteria; however, this composition varies depending on the developmental stage. Cetobacterium and Aeromonas are the most relevant genera in juveniles and adults. Finally, these results reveal a consistent pattern of certain bacterial groups in the zebrafish microbiota that could help shape gnotobiotic models (colonized with a specific known bacterial community) or synthetic microbiota (in vitro assembly of microbes), among other approaches.

Prevalence and prognostic implications of the no-reflux phenomenon in patients undergoing primary percutaneous coronary intervention at a university center in a middle-income country.

OBJECTIVE: To analyze the prevalence of no-reflow and the 30-day mortality in a university center in a middle-income country. METHOD: We analyzed 2463 patients who underwent primary PCI from January 2006 to December 2021. The outcome measure was 30-day mortality. RESULTS: Of a total of 2463 patients, no-reflow phenomenon was found in 413 (16.8%) patients, 30-day mortality was 16.7 vs. 4.29% (p < 0.001). Patients with no-reflow were older 60 (53-69.5) vs. 59 (51-66) (p = 0.001), with a higher delay in onset of symptom to emergency department arrival 270 vs. 247 min (p = 0.001). No-reflow patients also had had fewer previous myocardial infarction, 11.6 vs. 18.4 (p = 0.001) and a Killip class > 1, 37 vs. 26% (p < 0.001). No-reflow patients were more likely to have an anterior myocardial infarction (55.4 vs. 47.8%; p = 0.005) and initial TIMI flow 0 (76 vs. 68%; p < 0.001). CONCLUSION: No-reflow occurred in 16.8% of STEMI patients undergoing primary PCI and was more likely with older age, delayed presentation, anterior myocardial infarction and Killip class > 1. No-reflow was associated with a higher mortality at 30-day follow-up.

OBJETIVOS: Analizar la prevalencia de no reflujo y la mortalidad a 30 días en un centro universitario de un país de ingresos medios. MÉTODO: Analizamos 2,463 pacientes que se sometieron a ICP primaria desde enero de 2006 hasta diciembre de 2021. La medida de resultado fue la mortalidad a los 30 días. RESULTADOS: Del total de 2,463 pacientes, se encontró fenómeno de no reflujo en 413 (16.8%), la mortalidad a los 30 días fue del 16.7 vs. 4.29% (p < 0.001). Los pacientes sin reflujo tenían mayor edad 60 (53-69.5) vs. 59 (51-66) (p = 0.001), con mayor retraso del inicio de los síntomas a la llegada a urgencias, 270 vs. 247 min (p = 0.001). Los pacientes sin reflujo también tenían menos infarto de miocardio previo, 11.6 vs. 18.4 (p = 0.001), y una clase Killip > 1, 37 vs. 26% (p < 0.001). Los pacientes sin reflujo tenían más probabilidades de tener un infarto de miocardio anterior (55.4 vs. 47.8%; p = 0.005) y flujo TIMI inicial 0 (76 vs. 68%; p < 0.001). CONCLUSIÓN: Ocurrió ausencia de reflujo en el 16.8% de los pacientes con IAMCEST sometidos a ICP primaria y fue más probable con la edad avanzada, presentación tardía, infarto de miocardio anterior y clase Killip > 1. El no reflujo se asoció con una mayor mortalidad a los 30 días de seguimiento.

Early diagnosis and aggressive surgical resection matters to cure rhinocerebral mucormycosis: Six case reports.

Rhino-cerebral mucormycosis (RM) is a rare and opportunistic fungal infection observed in immune-compromised patients and metabolic imbalances such as Diabetes Mellitus. RM rapidly infiltrates blood vessels, leading to vascular thrombosis, subsequent tissue necrosis, and high mortality rates (23.6-60%). Due to its fast advancement, RM is a life-threatening condition requiring accurate clinical decisions by the medical and surgical teams. Based on the report of six cases, we emphasize the need for an early diagnosis and starting antifungal pharmacological therapy at the slightest suspicion of RM. Moreover, the restitution of metabolic balance and aggressive surgical debridement are vital steps to control RM, reducing the possibility of fatal outcomes.

Mesenchymal Stem Cell Engagement Modulates Neuroma Microenviroment in Rats and Humans and Prevents Postamputation Pain.

Postamputation pain is currently managed unsatisfactorily with neuron-targeted pharmacological and interventional therapies. Non-neuronal pain mechanisms have emerged as crucial factors in the development and persistence of postamputation pain. Consequently, these mechanisms offer exciting prospects as innovative therapeutic targets. We examined the hypothesis that engaging mesenchymal stem cells (MSCs) would foster local neuroimmune interactions, leading to a potential reduction in postamputation pain. We utilized an ex vivo neuroma model from a phantom limb pain patient to uncover that the oligodeoxynucleotide IMT504 engaged human primary MSCs to promote an anti-inflammatory microenvironment. Reverse translation experiments recapitulated these effects. Thus, in an in vivo rat model, IMT504 exhibited strong efficacy in preventing autotomy (self-mutilation) behaviors. This effect was linked to a substantial accumulation of MSCs in the neuroma and associated dorsal root ganglia and the establishment of an anti-inflammatory phenotype in these compartments. Centrally, this intervention reduced glial reactivity in the dorsal horn spinal cord, demonstrating diminished nociceptive activity. Accordingly, the exogenous systemic administration of MSCs phenocopied the behavioral effects of IMT504. Our findings underscore the mechanistic relevance of MSCs and the translational therapeutic potential of IMT504 to engage non-neuronal cells for the prevention of postamputation pain. PERSPECTIVE: The present study suggests that IMT504-dependent recruitment of endogenous MSCs within severely injured nerves may prevent post-amputation pain by modifying the inflammatory scenario at relevant sites in the pain pathway. Reinforcing data in rat and human tissues supports the potential therapeutic value of IMT504 in patients suffering postamputation pain.

Outcome of Infants Born to Women with Chronic Hepatitis B: A Local Risk-Based Strategy in a Low Prevalence Country.

BACKGROUND: Chronic hepatitis-B virus (HBV) infection due to mother-to-child transmission (MTCT) during the perinatal period is an important global health concern. Chile is a low-prevalence country with an increasing migratory inflow from Latin- American countries, with intermediate to high endemic rates of HBV infection, and until 2021, there is no universal maternal screening. This study aimed to evaluate infant outcomes using a risk-based strategy of maternal screening to prevent MTCT of hepatitis B virus (HBV) in a low-prevalence country. METHODS: This prospective study included infants born to HBsAg-positive women detected using a local risk-based strategy. The exposed infants received immunoprophylaxis (IP) and follow-up to evaluate their clinical outcomes and immune responses through post-serological vaccine testing (PSVT) after completing the three- dose schedule of the HBV vaccine. RESULTS: A total of 99 HBsAg-positive mothers were detected. Seventy-six (82%) infants completed the follow-up and had PSVT between 9 and 12 months of age. 55.2% female, the median gestational age was 39 weeks (25-41) and the median birth weight was 3,130g (816-4,400 g). All patients received IP with recombinant HBV vaccine plus hepatitis-B virus immunoglobulin (HBIG) and three doses of the HBV vaccine. There were no cases of HBV infection, and 96% (72) responded to immunization with HBsAg antibodies (anti-HBsAg) >10 UI/ml, with a median level of 799 IU/ml. CONCLUSIONS: A high-risk strategy can be implemented in countries with non-universal screening for VHB. Timely IP plus high-uptake VHB vaccination in infants born to HBsAg-positive mothers was associated with a high immunogenic response and absence of MTCT.

Gastrointestinal dysbiosis induced by Nocardia sp. infection in tilapia.

Nocardiosis has caused high mortalities among fish cultures; however, the effects of Nocardia infections in the fish gastrointestinal microbiota are unknown. In this research, tilapia was infected with Nocardia sp., to analyze the effect of infection on the gastrointestinal microbiota. Tilapia infected with Nocardia sp. reported a 46 % survival (100 % in non-infected). Moreover, the infection caused severe damage to the stomach microbiota, with a loss of diversity and a significant increase of Proteobacteria (94.8 %), resulting in a negative correlation network between Proteobacteria and other important phyla. Nocardia sp. is an emerging pathogen capable of inducing dysbiosis and causing significant mortalities.

Orbicularis muscle graft for treating deep glabellar rhytids / Enxerto de músculo orbicular para tratamento de rítide glabelar profunda

ABSTRACT Purpose To evaluate the efficacy of grafting a preseptal strip of orbicularis muscle to treat deep static glabellar wrinkles. Methods This was a prospective, interventional, case series study that included patients aged between 21 and 80, who underwent upper and lower blepharoplasty, and who presented varying degrees of deep static glabellar rhytids. After marking the glabellar rhytid, a subcision was made with 40 x 12mm needle along the entire length of the glabellar wrinkle. The orbicularis muscle graft was set into the recipient pocket already created in the glabella. The patients answered a self-assessment form about the results using the subject Global Aesthetic Improvement Scale after 6 months. Results Seventeen glabellar rhytid fillings were performed. As for the subjective evaluation of the result of the specific glabella filling procedure, the patients were distributed as follows: 12 rhytids (70.6%; 12 out of 17) were self-assessed as much better; 4 rhytids (23.6%; 3 out of 17) were self-assessed as better, and 1 rhytid (5.8%; 1 of 17) was self-assessed as unchanged. Conclusion This technique has excellent results, is easy to perform, has low morbidity and presents a high degree of satisfaction when patients evaluated themselves.

RESUMO Objetivo Avaliar a eficácia do enxerto de uma tira pré-septal do músculo orbicular no tratamento de rugas glabelares estáticas profundas. Métodos Trata-se de estudo prospectivo, intervencionista, do tipo série de casos, que incluiu pacientes com idade entre 21 e 80 anos, submetidos à blefaroplastia superior ou superior e inferior e que apresentavam graus variados de rítides glabelares estáticas profundas. Após marcação da rítide glabelar, foi feita subcisão com agulha 40x12mm em toda a extensão da ruga glabelar, criando uma porta de entrada para o enxerto e formando um leito receptor na hipoderme. O enxerto do músculo orbicular foi inserido no leito glabelar. Os pacientes foram acompanhados considerando pós-operatório mínimo de 6 meses. Eles responderam a um formulário de autoavaliação sobre os resultados por meio da Escala Global Aesthetic Improvement Scale. Resultados Foram realizados 17 enxertos de rítides glabelares (três pacientes submetidos ao procedimento bilateral). Quanto à avaliação subjetiva do resultado do procedimento, os pacientes foram distribuídos da seguinte forma: 12 rítides (70,6%; 12 de 17) autoavaliaram-se como muito melhores; 4 rítides (23,6%; 3 de 17) foram autoavaliadas como melhores e 1 rítide (5,8%; 1 de 17) foi autoavaliada como inalterada. Conclusão A presente técnica apresenta excelentes resultados, é de fácil execução, apresenta baixa morbidade e alto grau de satisfação na autoavaliação.

"Easy women get it": pre-existing stigma associated with HPV and cervical cancer in a low-resource setting prior to implementation of an HPV screen-and-treat program.

BACKGROUND: Cervical cancer is preventable with vaccination and early detection and treatment programs. However, for these programs to work as intended, stigma related to HPV and cervical cancer must be understood and addressed. We explored pre-existing stigma associated with HPV and cervical cancer in the public healthcare system and community of a low-resource setting prior to implementation of an HPV screen-and-treat program. METHODS: This study conducted thematic analysis of data collected during implementation of a novel HPV screen-and-treat system for cervical cancer early detection and treatment in Iquitos, Peru. We included 35 semi-structured interviews (19 health professionals, 16 women with cervical precancer or cancer), eight focus groups (70 community women), one workshop (14 health professionals), 210 counseling observations (with 20 nurse-midwives), and a document review. We used the Socio-Ecological Model to organize the analysis. RESULTS: We identified three main themes: 1. the implication that women are to blame for their HPV infection through characterizations of being easy or promiscuous, 2. the implication that men are to blame for women's HPV infections through being considered careless or unfaithful, 3. HPV is shameful, embarrassing, and something that should be hidden from others. Consequently, in some cases, women refrained from getting screened for HPV. These themes were seen at the individual level among women, relationship level among women, men, and family members, community level among healthcare staff, and societal level within components of cervical cancer guidelines and male chauvinism. CONCLUSIONS: Cervical cancer early detection and treatment programs in limited resource settings must address stigma entrenched throughout the entire healthcare system and community in order to sustainably and successfully implement and scale-up new programs. Interventions to tackle this stigma can incorporate messages about HPV infections and latency to lessen the focus on the influence of sexual behavior on HPV acquisition, and instead, promote screening and treatment as paramount preventative measures.

Roles of inflammatory cell infiltrate in periprosthetic osteolysis.

Classically, particle-induced periprosthetic osteolysis at the implant-bone interface has explained the aseptic loosening of joint replacement. This response is preceded by triggering both the innate and acquired immune response with subsequent activation of osteoclasts, the bone-resorbing cells. Although particle-induced periprosthetic osteolysis has been considered a foreign body chronic inflammation mediated by myelomonocytic-derived cells, current reports describe wide heterogeneous inflammatory cells infiltrating the periprosthetic tissues. This review aims to discuss the role of those non-myelomonocytic cells in periprosthetic tissues exposed to wear particles by showing original data. Specifically, we discuss the role of T cells (CD3+, CD4+, and CD8+) and B cells (CD20+) coexisting with CD68+/TRAP- multinucleated giant cells associated with both polyethylene and metallic particles infiltrating retrieved periprosthetic membranes. This review contributes valuable insight to support the complex cell and molecular mechanisms behind the aseptic loosening theories of orthopedic implants.

Factores asociados a la mala adherencia al tratamiento antirretroviral en pacientes VIH positivo / Factors associated with poor adherence to antiretroviral treatment in HIV-positive patients

Introducción: La infección por el virus de inmunodeficiencia humana representa un problema de salud pública en el mundo. La adherencia a la terapia antirretroviral es necesaria para alcanzar un estado de supresión viral máxima y disminuir la tasa de infecciones oportunistas. Sin embargo, diversos son los factores que pueden influir en la adherencia terapéutica. Objetivo: Identificar los factores de riesgo asociados a la mala adherencia a la terapia antirretroviral en pacientes con el virus de inmunodeficiencia humana. Métodos: Se empleó un estudio con diseño observacional, analítico, de tipo casos y controles. El tamaño muestral fue de 276, a partir del cual 138 fueron casos y 138 controles. Los datos recolectados fueron analizados utilizando métodos de estadística descriptiva y estadística inferencial. Resultados: El análisis multivariado determinó una asociación estadísticamente significativa entre la variable adherencia al tratamiento antirretroviral y las variables depresión (odds ratio OR ajustado= 2,15), esquema de terapia antirretroviral alternativo (OR ajustado= 2,40), efectos secundarios (OR ajustado= 4,24) y cambio en la adherencia durante el estado de emergencia (OR ajustado= 5,67), independientemente de las otras variables intervinientes. Conclusiones: La depresión, el uso del esquema de terapia antirretroviral alternativo, la presencia de efectos secundarios a terapia antirretroviral y el cambio en la adherencia durante el estado de emergencia aumentan el riesgo de mala adherencia a la terapia antirretroviral(AU)

Introduction: Human immunodeficiency virus infection represents a public health public problem in the world. Adherence to antiretroviral therapy is necessary to achieve a state of maximum viral suppression and decrease the rate of opportunistic infections. However, there are several factors that can influence therapeutic adherence. Objective: To identify the risk factors associated with poor adherence to antiretroviral therapy in patients with the human immunodeficiency virus. Methods: A study with an observational, analytical, case-control type design was used. The sample size was 276, from which 138 were cases and 138 controls. The collected data was analyzed using methods of descriptive statistics and inferential statistics. Results: The multivariate analysis determined a statistically significant association between the variable adherence to antiretroviral treatment and the variables depression (adjusted Odds Ratio OR = 2.15), alternative antiretroviral therapy scheme (adjusted OR= 2.40), side effects (adjusted OR= 4.24), and change in adherence during the state of emergency (adjusted OR= 5.67) independently of the other intervening variables. Conclusions: Depression, the use of alternative antiretroviral therapy regimens, the presence of side effects to antiretroviral therapy, and the change in adherence during the state of emergency increase the risk of poor adherence to antiretroviral therapy(AU)

"Easy women get it": Pre-existing stigma associated with HPV and cervical cancer in a low-resource setting prior to implementation of an HPV screen-and-treat program.

Background: Cervical cancer is preventable with vaccination and early detection and treatment programs. However, in order for these programs to work as intended, stigma related to HPV and cervical cancer must be understood and addressed. We explored pre-existing stigma associated with HPV and cervical cancer in the public healthcare system of a low-resource setting prior to implementation of an HPV screen-and-treat program. Methods: This study conducted thematic analysis of data collected during implementation of a novel HPV screen-and-treat system for cervical cancer early detection and treatment in Iquitos, Peru. We included 35 semi-structured interviews (19 health professionals, 16 women with cervical precancer or cancer), eight focus groups (70 community women), one workshop (14 health professionals), 210 counseling observations (with 20 nurse-midwives), and a document review. We used the Socio-Ecological Model to organize the analysis. Results: We identified three main themes: 1. the implication that women are to blame for their HPV infection through characterizations of being easy or promiscuous, 2. the implication that men are to blame for women's HPV infections through being considered careless or unfaithful, 3. HPV is shameful, embarrassing, and something that should be hidden from others. Consequently, in some cases, women refrained from getting screened for HPV. These themes were seen at the individual level among women, relationship level among women, men, and family members, community level among healthcare staff, and societal level within components of cervical cancer guidelines and male chauvinism. Conclusions: Cervical cancer early detection and treatment programs in limited resource settings must address stigma entrenched throughout the entire healthcare system in order to sustainably and successfully implement and scale-up new programs. Interventions to tackle this stigma can incorporate messages about HPV infections and latency to lessen the focus on the influence of sexual behavior on HPV acquisition, and instead, promote screening and treatment as paramount preventative measures.

Microbiota plasticity in tilapia gut revealed by meta-analysis evaluating the effect of probiotics, prebiotics, and biofloc.

Tilapia species are among the most cultivated fish worldwide due to their biological advantages but face several challenges, including environmental impact and disease outbreaks. Feed additives, such as probiotics, prebiotics, and other microorganisms, have emerged as strategies to protect against pathogens and promote immune system activation and other host responses, with consequent reductions in antibiotic use. Because these additives also influence tilapia's gut microbiota and positively affect the tilapia culture, we assume it is a flexible annex organ capable of being subject to significant modifications without affecting the biological performance of the host. Therefore, we evaluated the effect of probiotics and other additives ingested by tilapia on its gut microbiota through a meta-analysis of several bioprojects studying the tilapia gut microbiota exposed to feed additives (probiotic, prebiotic, biofloc). A total of 221 tilapia gut microbiota samples from 14 bioprojects were evaluated. Alpha and beta diversity metrics showed no differentiation patterns in relation to the control group, either comparing additives as a group or individually. Results also revealed a control group with a wide dispersion pattern even when these fish did not receive additives. After concatenating the information, the tilapia gut core microbiota was represented by four enriched phyla including Proteobacteria (31%), Fusobacteria (23%), Actinobacteria (19%), and Firmicutes (16%), and seven minor phyla Planctomycetes (1%), Chlamydiae (1%), Chloroflexi (1%), Cyanobacteria (1%), Spirochaetes (1%), Deinococcus Thermus (1%), and Verrucomicrobia (1%). Finally, results suggest that the tilapia gut microbiota is a dynamic microbial community that can plastically respond to feed additives exposure with the potential to influence its taxonomic profile allowing a considerable optimal range of variation, probably guaranteeing its physiological function under different circumstances.

The salivary peptide histatin-1 enhances bone repair in vivo.

The salivary peptide histatin-1 was recently described as a novel osteogenic factor that stimulates cell adhesion, migration, and differentiation in bone-lineage cells. Since these cell responses collectively contribute to bone regeneration, we hypothesized that histatin-1 harbors the capacity to enhance bone tissue repair at the preclinical level. By using a model of monocortical bone defect, we explored the effects of histatin-1 in tibial mineralization and organic matrix formation in vivo. To this end, different amounts of histatin-1 were embedded in one-mm3 collagen sponges and then applied to tibial monocortical defects in C57bl/6 mice. After seven days, mice were euthanized, and samples were processed for subsequent analysis. Micro-computed tomography screening showed that histatin-1 increased intraosseous mineralization, and this phenomenon was accompanied by augmented collagen matrix deposition and closure of cortical defect edges, as determined by Hematoxylin-Eosin and Masson's Trichrome staining. Moreover, immunohistochemical analyses showed that histatin-1 increased the expression of the osteogenic marker alkaline phosphatase, which was accompanied by augmented blood vessel formation. Collectively, our findings show that histatin-1 itself promotes bone regeneration in an orthotopic model, proposing this molecule as a therapeutic candidate for use in bone regenerative medicine.

Factores asociados a dolor lumbar en trabajadores sanitarios de un hospital de referencia del Perú

Introducción: El dolor lumbar es una condición inevitable en todo el personal del rubro de la salud, con llevando desde malestar físico hasta una incapacidad funcional del individuo. Objetivo: Determinar los factores asociados a dolor lumbar entre los trabajadores sanitarios en un hospital de referencia del Perú. Metodología: El presente estudio es observacional, analítico, de corte transversal, temporalmente prospectivo, con muestreo no probabilístico. La población estuvo conformada por trabajadores sanitarios del Hospital Santa Rosa de Pueblo Libre durante el periodo de junio a diciembre del año 2022. Resultados: El análisis multivariado determinó que el ser hombre (OR: 2.818, p valor: 0.017), tener sobrepeso (OR:1.782, p valor: 0.013), demanda laboral alta (OR: 4.750, p valor: 0.026), realizar actividad física (OR: 3.610, p valor: 0.031) y tener antecedentes de trauma lumbar (OR: 2.423, p valor: 0.034), fueron factores estadísticamente significativos que se asociaron al dolor lumbar. Discusión: Se pudo observar que, los factores asociados a dolor lumbar fueron el sexo masculino, el sobrepeso, la demanda laboral alta, el realizar actividad física y el antecedente de trauma lumbar. Conocer estas variables permitirá realizar esquemas y charlas preventivas para afrontar esta recurrente patología.

Introduction: Low back pain is an unavoidable condition in all health personnel, ranging from physical discomfort to functional disability of the individual. Objective: To determine the factors associated with low back pain among health workers at a reference hospital in Peru. Methods: This study is observational, analytical, cross-sectional, temporally prospective, with non-probabilistic sampling. The population was made up of health workers from the Hospital Santa Rosa de Pueblo Libre during the period from June to December of the year 2022. Results: The multivariate analysis determined that being a man (OR: 2.818, p value: 0.017), being overweight (OR:1.782, p value: 0.013), high labor demand (OR: 4.750, p value: 0.026), performing physical (OR: 3.610, p value: 0.031) and having a history of low back trauma (OR: 2.423, p value: 0.034) were statistically significant factors associated with low back pain. Discussion: It was possible to observe that the factors associated with low back pain were the male sex, being overweight, high work demand, physical activity and a history of low back trauma. Knowing these variables will make it possible to carry out preventive schemes and talks to deal with this recurring pathology.

Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients.

The objective of this work was to identify genetic variants in Mexican patients diagnosed with hypertrophic cardiomyopathy (HCM). According to world literature, the genes mainly involved are MHY7 and MYBPC3, although variants have been found in more than 50 genes related to heart disease and sudden death, and to our knowledge there are no studies in the Mexican population. These variants are reported and classified in the ClinVar (PubMed) database and only some of them are recognized in the Online Mendelian Information in Men (OMIM). The present study included 37 patients, with 14 sporadic cases and 6 familial cases, with a total of 21 index cases. Next-generation sequencing was performed on a predesigned panel of 168 genes associated with heart disease and sudden death. The sequencing analysis revealed twelve (57%) pathogenic or probably pathogenic variants, 9 of them were familial cases, managing to identify pathogenic variants in relatives without symptoms of the disease. At the molecular level, nine of the 12 variants (75%) were single nucleotide changes, 2 (17%) deletions, and 1 (8%) splice site alteration. The genes involved were MYH7 (25%), MYBPC3 (25%) and ACADVL, KCNE1, TNNI3, TPM1, SLC22A5, TNNT2 (8%). In conclusion; we found five variants that were not previously reported in public databases. It is important to follow up on the reclassification of variants, especially those of uncertain significance in patients with symptoms of the condition. All patients included in the study and their relatives received family genetic counseling.