mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes.

Type 2 diabetes (T2D) is a chronic systemic disease with a complex etiology, characterized by insulin resistance and mitochondrial dysfunction in various cell tissues. To explore this relationship, we conducted a secondary analysis of complete mtDNA sequences from 1261 T2D patients and 1105 control individuals. Our findings revealed significant associations between certain single-nucleotide polymorphisms (SNPs) and T2D. Notably, the variants m.1438A>G (rs2001030) (controls: 32 [27.6%], T2D: 84 [72.4%]; OR: 2.46; 95%CI: 1.64-3.78; p < 0.001), m.14766C>T (rs193302980) (controls: 498 [36.9%], T2D: 853 [63.1%]; OR: 2.57, 95%CI: 2.18-3.04, p < 0.001), and m.16519T>C (rs3937033) (controls: 363 [43.4%], T2D: 474 [56.6%]; OR: 1.24, 95%CI: 1.05-1.47, p = 0.012) were significantly associated with the likelihood of developing diabetes. The variant m.16189T>C (rs28693675), which has been previously documented in several studies across diverse populations, showed no association with T2D in our analysis (controls: 148 [13.39] T2D: 171 [13.56%]; OR: 1.03; 95%CI: 0.815-1.31; p = 0.83). These results provide evidence suggesting a link between specific mtDNA polymorphisms and T2D, possibly related to association rules, topological patterns, and three-dimensional conformations associated with regions where changes occur, rather than specific point mutations in the sequence.

Mitochondrial Control Region Variants Related to Breast Cancer.

Breast cancer has an important incidence in the worldwide female population. Although alterations in the mitochondrial genome probably play an important role in carcinogenesis, the actual evidence is ambiguous and inconclusive. Our purpose was to explore differences in mitochondrial sequences of cases with breast cancer compared with control samples from different origins. We identified 124 mtDNA sequences associated with breast cancer cases, of which 86 were complete and 38 were partial sequences. Of these 86 complete sequences, 52 belonged to patients with a confirmed diagnosis of breast cancer, and 34 sequences were obtained from healthy mammary tissue of the same patients used as controls. From the mtDNA analysis, two polymorphisms with significant statistical differences were found: m.310del (rs869289246) in 34.6% (27/78) of breast cancer cases and 61.7% (21/34) in the controls; and m.315dup (rs369786048) in 60.2% (47/78) of breast cancer cases and 38.2% (13/34) in the controls. In addition, the variant m.16519T>C (rs3937033) was found in 59% of the control sequences and 52% of the breast cancer sequences with a significant statistical difference. Polymorphic changes are evolutionarily related to the haplogroup H of Indo-European and Euro-Asiatic origins; however, they were found in all non-European breast cancers.

Class I MHC Polymorphisms Associated with Type 2 Diabetes in the Mexican Population.

Type 2 diabetes (T2D) has been linked to the expression of Human Leukocyte Antigens, principally to the Major Histocompatibility Complex Class II, with only scarce reports of Major Histocompatibility Complex Class I in specific populations. The objective of the present work was to explore the presence of polymorphisms in the MHC Class I related to T2D in the Mexican population using the Genome-Wide Association Studies Slim Initiative in Genomic Medicine of the Americas (GWAS SIGMA) database. This database contains information on 3848 Mexican individuals with T2D and 4366 control individuals from the same population without a clinical or hereditary history of the disease. The searching criteria considered a p-value of <0.005 and an odds ratio (OR) of >1.0. Ten novel, statistically significant nucleotide variants were identified: four polymorphisms associated with HLA-A (A*03:01:01:01) and six with HLA-C (C*01:02:01:01). These alleles have a high prevalence in Latin American populations and could potentially be associated with autoimmunity mechanisms related to the development of T2D complications.

New Genetic Polymorphisms as an Epidemiological Factor of Arterial Hypertension in Patients with Hyposodical Diet.

Hypertension is a major public health problem, affecting more than a quarter of the world's population causing serious cardiovascular problems. In recent years, different polymorphisms have been studied and helped to identify some candidate genes and hereditary syndromes associated with the molecular mechanisms involved in the development of hypertension. Therefore, it is important to identify these molecular mechanisms. This review exposes all the genes and polymorphisms that increase or decrease the risk of hypertension in different populations that are related to the renin angiotensin aldosterone system, G protein, salt excretion, aldosterone synthesis, lipid metabolism, mechanism of insulin resistance, vitamin metabolism, purines and sodium reabsorption. This document can be a useful tool in clinical practice, in addition to serving as a support for future research on this topic.

Cnidoscolus aconitifolius: therapeutic use and phytochemical properties. Literature review / Cnidoscolus aconitifolius: usos terapéuticos y propiedades fitoquímicas. Revisión de la literatura

Abstract Introduction: Medicinal plants have been traditionally used to cure or alleviate infectious and non-infectious diseases. They are widely accepted due to their low cost and low toxicity indexes. These plants are frequently used in cases involving skin irritation, superficial wounds, insect bites, and snake bites. Objective: To compile available evidence on the main therapeutic uses and phytochemical components of Cnidoscolus aconitifolius (popularly known as chaya), a plant that grows in tropical regions of Mexico and Central America. Materials and methods: A literature review of studies on C. aconitifolius published until 2017 was conducted in the BIREME, PubMed/Medline, Elsevier and SciELO databases. Descriptors "Cnidoscolus" and "aconitifolius" were used for the literature search, and no language restrictions were applied. Results: 82 articles were retrieved after completing the initial search. Once the studies were filtered by title (descriptors in the title) and duplicates were removed, 18 articles were reviewed. Based on the information found, it was possible to confirm that this plant has multiple health benefits. Conclusions: The traditional therapeutic use of Cnidoscolus aconitifolius is backed by scientific evidence. Therefore, further research aimed at identifying new phytochemical properties of this plant should be conducted to establish alternative therapies for treating different conditions.

Resumen Introducción. El uso tradicional de plantas medicinales para tratar diferentes enfermedades, ya sean infecciosas o no, es ampliamente aceptado debido a su bajo costo y sus bajos índices de toxicidad. Estas plantas son frecuentemente usadas en casos que involucran irritaciones de la piel, heridas superficiales, picaduras de insectos y mordeduras de víboras. Objetivo. Recopilar la información disponible sobre los principales usos terapéuticos y los componentes fitoquímicos de Cnidoscolus aconitifolius, una planta conocida popularmente como chaya y que crece en regiones tropicales de México y Centroamérica. Materiales y métodos. Se realizó una revisión de la literatura sobre C. aconitifolius publicada hasta 2017 en las bases de datos BIREME, PubMed/Medline, Elsevier y SciELO. Para la búsqueda se emplearon los descriptores "Cnidoscolus" y "aconitifolius", y no se aplicaron filtros de idioma. Resultados. Se identificaron 82 artículos luego de completar la búsqueda inicial. Después de filtrar los estudios por título (presencia de descriptores de búsqueda en el título) y remover duplicados, se incluyeron 18 artículos en la revisión. De acuerdo a la información encontrada, fue posible confirmar que esta planta ofrece diversos beneficios para la salud. Conclusiones. El uso terapéutico tradicional de la chaya está sustentado por evidencia científica, por lo que se sugiere realizar más investigaciones centradas en la identificación de nuevas propiedades fitoquímicas de esta planta y, así, establecer alternativas terapéuticas para distintas afecciones.

¿Qué resultados logran los pacientes que cursan con leucemia mieloide crónica actualmente? / What results do patients who currently have chronic myeloid leukemia achieve?

Resumen: ANTECEDENTES: La leucemia mieloide crónica es una neoplasia mieloproliferativa; los inhibidores de tirosin cinasa son fármacos eficaces en el tratamiento de esta enfermedad, en el ISSSTE se cuenta con imatinib, nilotinib y dasatinib. OBJETIVOS: Conocer el número de casos de leucemia mieloide crónica de 2005 a 2016, identificar las características clínicas, medir el grado de respuesta y la supervivencia. MATERIAL Y MÉTODO: Estudio retrospectivo, transversal, observacional y explicativo, efectuado de 2005 a 2016, en el que se incluyeron pacientes mayores de 18 años de edad, con diagnóstico de leucemia mieloide crónica, con cualquier fase de la enfermedad y en tratamiento con cualquiera de los inhibidores de tirosin cinasa. RESULTADOS: Se incluyeron 31 casos (55.2% mujeres); la mediana de edad fue 62 años. El 72.4% estaba en fase crónica, 27.6% en fase acelerada y ninguno en fase blástica. La respuesta hematológica fue de 94.1, 90 y 96%; la respuesta citogenética completa a 12 meses fue de 69.2, 60 y 57%; la respuesta molecular mayor se documentó en 62.9, 68.6 y 69.1% para imatinib, nilotinib y dasatinib, respectivamente. La supervivencia libre de enfermedad en este grupo a cinco años fue de 83%. La supervivencia global a cinco años fue de 94%. CONCLUSIONES: Independientemente del inhibidor prescrito se logran respuestas hematológicas superiores a 90%, citogenéticas completas en alrededor de 60% a 12 meses y moleculares mayores de 60% en un hospital del ISSSTE.

Abstract: BACKGROUND: Chronic myeloid leukemia is a myeloproliferative disease; the most effective drugs in the treatment of this disease are imatinib, nilotinib and dasatinib. Those drugs are available at the ISSSTE. OBJECTIVES: To know the number of chronic myeloid leukemia cases, to identify the clinical characteristics and to measure the degree of response to tyrosine kinase inhibitors and the survival. MATERIAL AND METHOD: A retrospective, cross-sectional, observational and explanatory study was done from 2005 to 2016, including patients over 18 years of age, with a diagnosis of chronic myeloid leukemia; with any of the three phases of the disease and treatment with any of the tyrosine kinase inhibitors. RESULTS: There were included 31 cases (55.2% women); the median age was 62 years; 72.4% were in chronic phase, 27.6% in accelerated phase and none in the blast phase. The haematological response was of 94.1%, 90% and 96%; the complete cytogenetic response at 12 months was of 69.2%, 60% and 57% and the mayor mo- lecular response was of 62.9%, 68.6%, 69.1% of the patients treated with imatinib, nilotinib or dasatinib, respectively. Disease-free survival at 5 years was of 83% and global survival at 5 years was of 94%. CONCLUSION: Independently of the inhibitor prescribed, the hematologic response is achieved in more than 90%, the complete cytogenetics around 60% at 12 months and major molecular almost 60% in a ISSSTE hospital.

Schwannomas vestibulares: experiencia en el tratamiento quirúrgico de 67 casos en 10 años / Vestibular schwannomas: surgical treatment of 67 cases in 10 years

Introducción: Los schwannomas vestibulares (SV) son tumores intracraneanos benignos, cuyo manejo actual es materia de debate, aunque el tratamiento microquirúrgico sigue siendo la modalidad de elección en la mayoría de los casos. Objetivo: Describir los resultados quirúrgicos de SV operados en un hospital público chileno. Material y método: Se presenta una serie de 67 pacientes tratados quirúrgicamente entre los años 2002 y 2012, en el Instituto de Neurocirugía Asenjo. Resultados: Sesenta y cinco casos (97%), correspondieron a tumores Koos III y IV, de los cuales el 52% fueron grandes (3-4 cm) o gigantes (> 4 cm). Se realizó acceso retrosigmoideo transmeatal en 41 casos (61%). Se logró exéresis total en el 97% y subtotal en el 3% de los casos. A los 6 meses de seguimiento promedio se obtuvo buena función facial (House-Brackmann I o II) en el 32,7% de los casos y función moderada (House-Brackmann III o IV) en el 42,3%. Las complicaciones cardiopulmonares fueron las más frecuentes (28%) y la mortalidad fue de 1,5%. Conclusiones: Los SV son tumores que pese a su naturaleza benigna pueden causar deterioro clínico significativo en estadios avanzados. Su tratamiento quirúrgico reviste gran complejidad, por lo que este debe ser realizado por equipos especializados para asegurar resultados funcionales óptimos

Introduction: Vestibular Schwannomas (VS) are benign intracranial tumors, for which their current management is a matter of debate, although microsurgical treatment remains the mode of choice in the majority of cases. Objective: To describe the surgical outcome of patients operated on for a VS in a Chilean Public Hospital. Material and method: A series of 67 patients treated surgically between 2002 and 2012, in the Institute of Neurosurgery Asenjo is presented. Results: Sixty-five cases (97%) corresponded to Koos III and IV tumors, of which 52% were large (3-4 cm) or Giant (> 4 cm). Forty-one cases were operated on using a retrosigmoid transmeatalapproach (61%). Total resection was achieved in 97% of the cases and subtotal in the remaining 3%. A mean six months follow-up showed that good facial function (House - Brackmann I or II) was obtained in 32.7% of the patients, and moderate function (House - Brackmann III or IV) in 42.3%. Cardiopulmonary complications were the most frequent (28%), and mortality was 1.5%. Conclusions: The VS are tumors that can cause significant neurological deficit in advanced stages, despite their benign nature. Surgical treatment is very complex, and must be performed by specialized teams to ensure optimal functional results

[Vestibular schwannomas: Surgical treatment of 67 cases in 10 years]. / Schwannomas vestibulares: experiencia en el tratamiento quirúrgico de 67 casos en 10 años.

INTRODUCTION: Vestibular Schwannomas (VS) are benign intracranial tumors, for which their current management is a matter of debate, although microsurgical treatment remains the mode of choice in the majority of cases. OBJECTIVE: To describe the surgical outcome of patients operated on for a VS in a Chilean Public Hospital. MATERIAL AND METHOD: A series of 67 patients treated surgically between 2002 and 2012, in the Institute of Neurosurgery Asenjo is presented. RESULTS: Sixty-five cases (97%) corresponded to Koos III and IV tumors, of which 52% were large (3-4 cm) or Giant (>4 cm). Forty-one cases were operated on using a retrosigmoid transmeatalapproach (61%). Total resection was achieved in 97% of the cases and subtotal in the remaining 3%. A mean six months follow-up showed that good facial function (House-Brackmann I or II) was obtained in 32.7% of the patients, and moderate function (House-Brackmann III or IV) in 42.3%. Cardiopulmonary complications were the most frequent (28%), and mortality was 1.5%. CONCLUSIONS: The VS are tumors that can cause significant neurological deficit in advanced stages, despite their benign nature. Surgical treatment is very complex, and must be performed by specialized teams to ensure optimal functional results.

Simplified azygos anterior cerebral bypass: y-shaped superficial temporal artery interposition graft from A2 with double reimplantation of pericallosal arteries: technical case report.

BACKGROUND AND IMPORTANCE: Trapping with distal revascularization is a therapeutic option for giant aneurysms that cannot be clipped or coiled. In skull base lesions such as meningiomas, arterial encasement is often present, requiring, in some cases, revascularization procedures: extracranial-to-intracranial bypass and more recently intracranial-to-intracranial techniques. These techniques are used only in exceptional cases of tumors in other localizations. CLINICAL PRESENTATION: We report a case of a recurrent malignant frontal falx meningioma with encasement of both pericallosal arteries (PcaAs). During resection of the lesion, the left PcaA was sectioned and the right PcaA was occluded for manipulation and coagulation of the tumor. The occlusion was diagnosed with indocyanine green videoangiography. A Y-shaped superficial temporal artery graft was obtained in the right side, and the anterior cerebral artery circulation was reconstructed using an intracranial-to-intracranial bypass in the following fashion: right A2 to superficial temporal artery Y-shaped graft for both PcaAs. The patient's postoperative period was uneventful with no deficit, and the computed tomography angiography showed the preservation of both PcaAs. CONCLUSION: To the best of our knowledge, this microsurgical reconstruction of the PcaAs has not been performed before in a meningioma or a complex aneurysm case. We think the use of a superficial temporal artery as an in situ graft is more straightforward compared with other interposition grafts such as the radial artery graft or saphenous vein graft. The use of intracranial-to-intracranial techniques is the proper evolution of the use of classic extracranial-to-intracranial cerebral revascularization techniques.