Werner’s syndrome: understanding the phenotype of premature aging—First case described in Colombia

Pacientes con Síndrome de WernerWerner’s syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and “bird-like” facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics. WRN gene sequencing identified the homozygous pathogenic variant NM_00553.4: c.2581C>T (NP_000544.2: pGln861Ter). This is the first case of WS reported in the Colombian population. We report this case to avoid misdiagnosis of this infrequent condition and allow timely identification of potential complications associated with premature aging, especially malignancies, cardiovascular and metabolic diseases.https://orcid.org/0000-0002-1903-9621https://orcid.org/0000-0001-6336-5347https://orcid.org/0000-0002-9784-188XRevista Internacional - IndexadaN

Disorders of sexual development in 46,XX individuals : an update

La interrupción de los procesos de determinación o diferenciación sexual por cualquier factor genético o ambiental puede resultar en un trastorno del desarrollo sexual (TDS) con discordancia entre el sexo cromosómico, gonadal y anatómico. Dicha discordancia tendrá diferentes expresiones en el fenotipo, incluidas anomalías en los genitales internos y/o genitales externos. Material y métodos: Con la finalidad de actualizar conceptos relacionados con TDS con cariotipo 46,XX sin alteraciones numéricas o estructurales, se realizó una búsqueda de información de los últimos 10 años en los que se describen tres subcategorías: trastornos del desarrollo gonadal (ovárico), trastornos relacionados con el exceso androgénico y otras anomalías (atresia vaginal, extrofia cloacal, anomalías uterinas y adherencias labiales). Conclusión: La gran variabilidad de las manifestaciones fenotípicas en este tipo de TDS puede crear confusión en los enfoques diagnósticos guiados por los hallazgos clínicos. Esta variabilidad de presentación, junto con la falta de conocimiento de la fisiopatología, puede contribuir a diagnósticos tardíos o no concluyentes. Por estas razones, profundizar en el conocimiento de las causas y manifestaciones clínicas redundará en el bienestar del paciente y su familia.Q4Individuos con trastornos del desarrollo sexualDisruption of the processes of sexual determination or sexual differen-tiation by any genetic or environmental factor may result in a disorder of sexual development (DSD) with discordance among chromosomal, gonadal, and anatomical sex. Materials and methods: In order to update concepts related to DSD with 46,XX karyotype without numeric or structural abnormalities, a search of information was carried out for the last 10 years in which three subcategories are described: Disorders of gonadal (ovarian) de-velopment, Disorders related to androgenic excess and other abnor-malities (vaginal atresia, cloacal exstrophy, uterine abnormalities and labial adhesions). Conclusion: The great variability of phenotypical manifestations in this kind of DSD may create confusion in diagnostic approaches gui-ded by clinical findings. This presentation variability, paired with a lack of knowledge of the pathophysiology, can contribute to delayed or non-conclusive diagnoses. For these reasons, deepening the knowledge of the causes and clinical manifestations of this class of clinical condi-tions will result in the well-being of the patient and his family.https://orcid.org/0000-0002-3463-3565https://orcid.org/0000-0002-7856-7213https://orcid.org/0000-0003-2241-7854https://orcid.org/0000-0001-6336-5347https://orcid.org/0000-0001-8528-4433Revista Internacional - IndexadaCN

Disrupción auriculoventricular posterior a reoperación de reemplazo valvular mitral: reparación y evaluación ecocardiográfica

ResumenLa disrupción auriculoventricular después del reemplazo valvular mitral es una rara pero letal complicación. Este caso es el de una mujer de 72 años de edad, con antecedentes de: reemplazo valvular aórtico, mitral, plastia tricúspide y Maze. Se llevó al reemplazo valvular mitral con prótesis Hancock 29 mitral. Se trasladó a la UCI y el curso postoperatorio fue normal hasta las 24 horas después de la cirugía, cuando presentó disnea y requirió soporte inotrópico. Se le realizó un angiotac y un ecocardiograma transtorácico que evidenció pseudoaneurisma ventricular. Fue llevada a cirugía, se inició circulación extracorpórea. Se evidenció disrupción auriculoventricular en el anillo posterior de la válvula mitral (tipo I perforación). La ruptura fue cerrada con un parche mixto de pericardio bovino y dacron con sutura continua. Actualmente, la paciente está en buenas condiciones sin recurrencia. Investigamos: el caso, la etiología, el reparo quirúrgico y la prevención de esta rara complicación y se discute.AbstractAtrioventricular disruption after a mitral valve replacement is a rare but fatal complication. A case of 72 year-old woman is presented. She had a medical history of aortic and mitral valve replacement and Maze and tricuspid valve surgery. Mitral valve replacement was performed with Hancock 29 mitral prosthesis. She was taken to ICU and postoperative progress was normal until 24hours after the surgery, when she developed dyspnea and required inotropic support. A CT angiography and transthoracic echocardiogram were performed, which evidence a ventricular pseudoaneurysm. She was taken to the operating room to start extracorporeal circulation. Atrioventricular disruption was evidenced in the posterior mitral annulus (type I perforation). Rupture was closed with a using a mixed Dacron and bovine pericardial patch with continuous suture. Patient is currently in good condition with no recurrence. Case, etiology, surgical repair and prevention of this rare complication were investigated and discussed

Factores asociados a insuficiencia renal postoperatoria en cirugía de revascularización miocárdica

Motivation: To determine which medical history and surgical procedure factors are associated to the onset of postoperative kidney failure in patients undergoing myocardial revascularisation. Methods: Case-control cohort study carried out between January 2005 and December 2013 which included patients who had undergone elective myocardial revascularisation and showed postoperative kidney failure immediately after surgery and until discharge. Controls consisted of patients who had undergone elective myocardial revascularisation and did not develop postoperative kidney failure immediately after surgery. A logistic regression model was used to determine the factors associated to postoperative kidney failure. Associations were expressed as grounds of disparity with their corresponding confidence intervals. Results: old age [OR 1.03 CI 95% (1.01-1.04)], preoperative presence of diabetes mellitus [OR 1.8 CI 95% (1.9-3.4)], cardiac insufficiency [OR 2.7 CI 95% (1.1-6.7)] and a longer perfusion time [OR 1.02 CI 95% (1.01-1.03)] were associated to a higher risk of postoperative kidney failure, while higher hematocrit [OR 0.86 CI 95% (0.82-0.91)] and higher ejection fraction [OR 0.94 CI 95% (0.92-0.96)] were associated with a decrease of the risk of postoperative kidney failure. Conclusions: In patients who had undergone myocardial revascularisation, risk factors associated to postoperative kidney failure where comorbidities related to internal and external gradual kidney damage outside the context of the surgery. This implies that strategies to minimise this event should be focused on identifying these patients in a timely manner and offering appropriate nephroprotection. © 2015 Sociedad Colombiana de Cardiología y Cirugía Cardiovascular

Understanding Common Perceptions of the Drylands

Drylands occupy over 40% of the earth’s surface and are home to more than 2 billion people. Drylands are key to the food and nutritional security of the planet and vital to the economies and livelihoods of dryland inhabitants. Yet, drylands are commonly perceived as unproductive, economically inefficient and marginal lands where small-scale farmers and pastoralists practice environmentally degrading activities. Driven by inadequate understanding and misconceptions of the drylands, policy-makers devise inappropriate policies and interventions. The BRECcIA project developed an online Drylands Perceptions Survey to understand the perceptions of researchers, practitioners and policy makers working in the drylands of Kenya, Malawi and Ghana. This paper presents results from a pilot of 40 responses and is part of a wider ongoing study. Results show that many respondents subscribe to a number of common drylands statements or assumptions, although other statements are challenged and respondents disagree with the assumptions. In another set of cases, respondents had mixed views and a more nuanced picture emerged that is context dependent. Through the BRECcIA project, the survey findings are being used to shape the development of new and revised dryland training courses with a more critical policy and research focus for policy-makers, practitioners, researchers and students in Kenya

Antimicrobial Potential Of Some Plant Extracts Against Candida Species.

The increase in the resistance to antimicrobial drugs in use has attracted the attention of the scientific community, and medicinal plants have been extensively studied as alternative agents for the prevention of infections. The Candida genus yeast can become an opportunistic pathogen causing disease in immunosuppressive hosts. The purpose of this study was to evaluate dichloromethane and methanol extracts from Mentha piperita, Rosmarinus officinalis, Arrabidaea chica, Tabebuia avellanedae, Punica granatum and Syzygium cumini against Candida species through the analysis of Minimum Inhibitory Concentration (MIC). Results presented activity of these extracts against Candida species, especially the methanol extract.701065-

Diseño y construcción de un prototipo controlado para carburización gaseosa de aceros utilizando alcoholes

En esta investigación se realizó el diseno, construcción y prueba de un equipo a escala de laboratorio para tratamientos térmicos con atmósfera controlada para el estudio de la carburización gaseosa de aceros con alcoholes. El equipo posee las siguientes caracterIsticas: producción controlada de una atmósfera gaseosa compuesta hasta por tres gases y dos lIquidos volatiles, una zona de reacción isotérmica, inerte y hermética, y una zona de analisis de gases que retiene sólidos y lIquidos condensables y que cuenta con sensores de presión y de dióxido de carbono. Se hicieron ocho ensayos con el alcohol metIlico, etIlico, n-propIlico, isopropIlico y tertbutanol, encontrandose que el alcohol metIlico carburiza y produce una bala cantidad de hollIn pero profundiza poco en la pieza, el etanol descarburiza y forma grandes cantidades de hollIn, el n-propanol, isopropanol y el tertbutanol proveen buenos potenciales de carbono y profundidades de capa con una gran formación de hollIn y alquitran, siendo en orden ascendente en producción de hollIn y alquitran el n-propanol, el tertbutanol y el isopropanol.This article deals with designing, constructing and testing a laboratory scale apparatus for heat treatment with controlled atmosphere. The equipment was used for studying steel carburisation with alcohols. The equipment has an area for the controlled production of a gas atmosphere composed by up to 3 gases and 2 volatile liquids, an inert and hermetic isothermal reaction area and a gas analysis area which retains solids and condensable liquids. The equipment was provided with pressure and carbon dioxide concentration sensors. Eight experiments were carried out with methanol, ethanol, n-propanol, isopropanol and tertbutanol as carbon source. The results showed that methanol caused carburisation but layer depth was small and produced a low quantity of soot, ethanol caused decarburisation and formed large quantities of soot, n-propanol, isopropanol and the tertbutanol provided good carbon potential and layers having good depth with good soot and tar production. Soot and tar production followed this order: n-propanol and lt; tertbutanol and lt; isopropanol

Bone health and coronary artery calcification: The Rotterdam Study

Objectives: Vascular calcification has been associated inconsistently to low bone mineral density and fractures. The aims of the present study were to investigate the associations between coronary artery calcification (CAC) and BMD change, BMD and fracture risk in elderly subjects of the population-based Rotterdam Study. Methods: BMD was assessed through dual-energy X-ray absorptiometry and CAC through Electron-Beam Computed Tomography in 582 men and 694 women. We investigated the associations between BMD change (6.4 years follow-up) and CAC at follow-up and between BMD and CAC (measured simultaneously). In sensitivity analyses we stratified analyses for estradiol levels in women. The association between CAC and fracture risk (9 years follow-up) was tested through competing-risks models. Models were sex-stratified and adjusted for age, body mass index, smoking, bisphosphonate use and age at menopause. Results: There was no association between BMD change and CAC in men. In women, each 1% increase in annual BMD loss was significantly associated with higher follow-up CAC [β = 0.22 (0.06-0.38), p. =. 0.006; prevalence ratio: 4%]. Stratified analyses showed significant associations between BMD loss and follow-up CAC only in women with lower estradiol levels. We found no association between CAC and fracture risk and no association between BMD and CAC cross-sectionally. Conclusions: BMD loss was associated with higher follow-up CAC in women, which might be related to low estrogen levels. No association between CAC and BMD or fracture risk was found. Further studies are required to elucidate the mechanisms that might underlie the association between BMD change and coronary calcification in women

Action of Coriandrum sativum L. Essential Oil upon Oral Candida albicans Biofilm Formation

The efficacy of extracts and essential oils from Allium tuberosum, Coriandrum sativum, Cymbopogon martini, Cymbopogon winterianus, and Santolina chamaecyparissus was evaluated against Candida spp. isolates from the oral cavity of patients with periodontal disease. The most active oil was fractionated and tested against C. albicans biofilm formation. The oils were obtained by water-distillation and the extracts were prepared with macerated dried plant material. The Minimal Inhibitory Concentration—MIC was determined by the microdilution method. Chemical characterization of oil constituents was performed using Gas Chromatography and Mass Spectrometry (GC-MS). C. sativum activity oil upon cell and biofilm morphology was evaluated by Scanning Electron Microscopy (SEM). The best activities against planktonic Candida spp. were observed for the essential oil and the grouped F8–10 fractions from C. sativum. The crude oil also affected the biofilm formation in C. albicans causing a decrease in the biofilm growth. Chemical analysis of the F8–10 fractions detected as major active compounds, 2-hexen-1-ol, 3-hexen-1-ol and cyclodecane. Standards of these compounds tested grouped provided a stronger activity than the oil suggesting a synergistic action from the major oil constituents. The activity of C. sativum oil demonstrates its potential for a new natural antifungal formulation