Consumption of a Byproduct of Chia Seed Oil Extraction by Cold Pressing Ameliorates Cardiovascular Risks Factors in an Experimental Model of Metabolically Unhealthy Normal Weight.

The byproduct of Salvia hispanica (chia) seed oil extraction by cold pressing, also known as expeller, possesses a high nutritional value. It is rich in proteins, fibers, minerals, and has a residual oil content of 7-11%, which is rich in omega 3 linolenic acid (ALA). However, this byproduct has been historically undervalued. Thus, the aim of current work was to study the effects of consuming of a rich in chia expeller diet on a rabbit model of metabolically unhealthy normal weight to validate their use as a functional food. Rabbits were fed different diets for a period of 6 weeks: a standard diet (CD), a high-fat diet (HFD), a rich in expeller CD (Exp-CD) and a rich in expeller HFD (Exp-HFD). The Exp-HFD attenuated the rise in basal glucose, TyG index, triglycerides, cholesterol and non-HDL cholesterol induced by the HFD. Both rich in expeller diets reduced mean arterial blood pressure (MAP) and increase liver and fat ALA levels compared to their respective controls. Furthermore, the angiotensin converting enzyme (ACE) activity was lower in the lungs of animals fed on rich in expeller diets compared to their respective controls. In vitro studies showed that ALA inhibited ACE activity. The evaluation of vascular reactivity revealed that rich in expeller diets improved angiotensin II affinity and reduced contractile response to noradrenaline. In conclusion, the consumption of rich in expeller diets showed beneficial effects in preventing cardiovascular risk factors such as insulin resistance, dyslipidemia and MAP. Therefore, its use as functional ingredient holds significant promise.

Sacral neuromodulation therapy for urinary and defecatory disorders: experience in a Latin American public hospital.

Objective: To show the experience of a Latin American public hospital, with SNM in the management of either OAB, NOUR or FI, reporting feasibility, short to medium-term success rates, and complications. Methods: A retrospective cohort was conducted using data collected prospectively from patients with urogynecological conditions and referred from colorectal surgery and urology services between 2015 and 2022. Results: Advanced or basic trial phases were performed on 35 patients, 33 (94%) of which were successful and opted to move on Implantable Pulse Generator (GG) implantation. The average follow-up time after definitive implantation was 82 months (SD 59). Of the 33 patients undergoing, 27 (81%)reported an improvement of 50% or more in their symptoms at last follow-up. Moreover, 30 patients (90%) with a definitive implant reported subjective improvement, with an average PGI-I "much better" and 9 of them reporting to be "excellent" on PGI-I. Conclusion: SNM is a feasible and effective treatment for pelvic floor dysfunction. Its implementation requires highly trained groups and innovative leadership. At a nation-wide level, greater diffusion of this therapy among professionals is needed to achieve timely referral of patients who require it.

Sacral neuromodulation therapy for urinary and defecatory disorders: experience in a Latin American public hospital

Abstract Objective: To show the experience of a Latin American public hospital, with SNM in the management of either OAB, NOUR or FI, reporting feasibility, short to medium-term success rates, and complications. Methods: A retrospective cohort was conducted using data collected prospectively from patients with urogynecological conditions and referred from colorectal surgery and urology services between 2015 and 2022. Results: Advanced or basic trial phases were performed on 35 patients, 33 (94%) of which were successful and opted to move on Implantable Pulse Generator (GG) implantation. The average follow-up time after definitive implantation was 82 months (SD 59). Of the 33 patients undergoing, 27 (81%)reported an improvement of 50% or more in their symptoms at last follow-up. Moreover, 30 patients (90%) with a definitive implant reported subjective improvement, with an average PGI-I "much better" and 9 of them reporting to be "excellent" on PGI-I. Conclusion: SNM is a feasible and effective treatment for pelvic floor dysfunction. Its implementation requires highly trained groups and innovative leadership. At a nation-wide level, greater diffusion of this therapy among professionals is needed to achieve timely referral of patients who require it.

Hepatite C: evolução do diagnóstico e tratamento / Hepatitis C: evolution of diagnosis and treatment

A hepatite C é uma das principais causas de doença hepática crônica, cirrose e carcinoma hepatocelular. Estima-se que 58 milhões de pessoas tenham infecção crônica com cerca de 1,5 milhão de novas infecções por ano. Em 2016, a OMS estipulou a meta de eliminar as hepatites virais até 2030, reduzindo em 90% as novas infecções e em 65% as mortes. Este relato de experiência se propõe a apresentar os avanços no diagnóstico e tratamento da hepatite C no período de 2000 a 2023 e discutir os desafios ainda presentes para atingir a meta da OMS. O diagnóstico da Hepatite C envolve o uso de técnicas sorológicas para a triagem e de biologia molecular para confirmação do diagnóstico, além de avaliar a eficácia do tratamento. O único tratamento disponível até 2011 era a combinação de Interferon alfa peguilado e Ribavirina. A disponibilidade e a evolução das drogas antivirais de ação direta a partir de 2011 contribuíram com o avanço no tratamento, apresentando alta eficácia, período mais curto de terapia, menos contraindicações e poucos efeitos adversos. Mesmo com esses avanços, apenas 20% das pessoas que vivem com Hepatite C no mundo foram diagnosticadas e 7% receberam tratamento. Conclui-se por tanto que para atingir a meta da OMS será necessário um diagnóstico acessível e rápido, no local de atendimento, além de campanhas de triagem e tratamento em massa como parte do programa de vigilância nacional desse agravo.

A hepatite C é uma das principais causas de doença hepática crônica, cirrose e carcinoma hepatocelular. Estima-se que 58 milhões de pessoas tenham infecção crônica com cerca de 1,5 milhão de novas infecções por ano. Em 2016, a OMS estipulou a meta de eliminar as hepatites virais até 2030, reduzindo em 90% as novas infecções e em 65% as mortes. Este relato de experiência se propõe a apresentar os avanços no diagnóstico e tratamento da hepatite C no período de 2000 a 2023 e discutir os desafios ainda presentes para atingir a meta da OMS. O diagnóstico da Hepatite C envolve o uso de técnicas sorológicas para a triagem e de biologia molecular para confirmação do diagnóstico, além de avaliar a eficácia do tratamento. O único tratamento disponível até 2011 era a combinação de Interferon alfa peguilado e Ribavirina. A disponibilidade e a evolução das drogas antivirais de ação direta a partir de 2011 contribuíram com o avanço no tratamento, apresentando alta eficácia, período mais curto de terapia, menos contraindicações e poucos efeitos adversos. Mesmo com esses avanços, apenas 20% das pessoas que vivem com Hepatite C no mundo foram diagnosticadas e 7% receberam tratamento. Conclui-se por tanto que para atingir a meta da OMS será necessário um diagnóstico acessível e rápido, no local de atendimento, além de campanhas de triagem e tratamento em massa como parte do programa de vigilância nacional desse agravo.

Effects of Cold Pressed Chia Seed Oil Intake on Hematological and Biochemical Biomarkers in Both Normal and Hypercholesterolemic Rabbits.

Most of the studies on the beneficial effects of chia have been conducted with its seeds. There is less evidence about the effects of cold pressed chia seeds oil on hypercholesterolemia-induced alterations. Thus, this study investigated the effects of cold pressed chia seed oil supplementation on certain hematological and biochemical biomarkers in both normal and hypercholesterolemic rabbits. Thirty two male rabbits were assigned to four different groups and fed on: 1) a regular diet (CD), 2) CD supplemented with 10% chia oil, 3) CD supplemented with 1% cholesterol, 4) CD supplemented with 1% cholesterol and 10% chia oil. After six weeks of dietary interventions, mean arterial blood pressure and visceral fat were measured and blood samples were analyzed for lipid profiles and hematological parameters while erythrocyte membranes and retroperitoneal fat were analyzed for fatty acids composition and biochemical biomarkers. Dietary intervention with chia oil achieved control of the hypercholesterolemia-induced increase of mean arterial blood pressure, neutrophil to lymphocytes ratio, erythrocyte membrane fluidity, and improved erythrocyte morphological alterations. With regard to inflammatory biomarkers, chia oil supplementation reduced omega-6/omega-3 polyunsaturated fatty acids ratios and arachidonic/linolenic fatty acids ratios both in erythrocytes and fat from normal and hypercholesterolemic rabbits. The increase of linolenic fatty acid into the retroperitoneal fat was about 9 times higher than its respective controls. These results provide support for the potential health benefits of chia oil intake on hypercholesterolemia-associated clinical, hematological and biochemical alterations.

A Flavonoid-rich Zuccagnia punctata Extract Prevents High Fat Diet-induced Normal Weight Obesity in a Rabbit Model.

Oral administration of rich in flavonoids hydroalcoholic extract from Zuccagnia punctata (ZpE) improves lipid profile and prevents vascular dysfunction in hypercholesterolemic rabbits. This study aimed to evaluate the ability of ZpE to prevent metabolic and vascular alterations induced by high fat diet (HFD) on a metabolically obese and normal weight rabbit model. The major components of ZpE were analyzed by HPLC method. Rabbits were separated into six groups: 1-fed on standard chow (CD); 2-fed on HFD; 3, 4, 5- fed on HFD and orally administrated 2.5 mg, 5 mg or 10 mg GAE/day of ZpE, respectively (ZpE- HFD); 6- fed on HFD and orally administered 30 mg orlistat/day (Or-HFD). All diets were administrated by 6 weeks. The major compounds of ZpE identified were chalcones: 2',4'-dihydroxy-3'-methoxychalcone and 2',4'-dihydroxychalcone. Oral treatment with ZpE 5 mg GAE/day as well as orlistat prevented the HFD-induced increase of triglycerides, fasting glucose, intraperitoneal glucose test, white cells, and TyG index. Acetylcholine relaxation was reduced in arteries from HFD group and oral administration of ZpE reached this response to CD values. Contractile response to angiotensin II was lower in arteries from rabbits fed on HFD treated with ZpE 5 and 10 mg GAE/day than those of untreated rabbits. Moreover, ZpE could inhibit the activity of pancreatic lipase in vitro and in vivo. In conclusion the ZpE may prevent normal weight obesity by inhibiting the pancreatic lipase. Thus, the use of ZpE as a natural product in the prevention of metabolic syndrome and endothelial dysfunction is very promising.

Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.

BACKGROUND: Craniosynostosis is one of the major genetic disorders affecting 1 in 2,100-2,500 live newborn children. Environmental and genetic factors are involved in the manifestation of this disease. The suggested genetic causes of craniosynostosis are pathogenic variants in FGFR1, FGFR2, FGFR3, and TWIST1 genes. METHODS: In order to describe their major clinical characteristics and the presence of pathogenic variants, a sample of 36 Mexican patients with craniosynostosis diagnosed as: Crouzon (OMIM 123,500), Pfeiffer (OMIM 101,600), Apert (OMIM 101,200), Saethre-Chotzen (OMIM 101,400), and Muenke (OMIM 602,849) was analyzed. RESULTS: In addition to craniosynostosis, most of the patients presented hypertelorism, midface hypoplasia, and abnormalities in hands and feet. To detect the pathogenic variants p.Pro252Arg FGFR1 (OMIM 136,350), p.Ser252Trp, p.Pro253Arg FGFR2 (OMIM 176,943), p.Pro250Arg, FGFR3 (OMIM 134,934), and p.Gln119Pro TWIST1 (OMIM 601,622), PCR amplification and restriction enzyme digestion were performed. Four and two patients with Apert presented the pathogenic variants p.Ser252Trp and p.Pro253Arg in FGFR2, respectively (with a frequency of 11.1% and 5.5%). The p.Pro250Arg pathogenic variant of FGFR3 was found in a patient with Muenke (with a frequency of 2.8%). The above percentages were calculated with the total number of patients. CONCLUSION: The contribution of this work is discreet, since only 4 genes were analyzed and sample size is small. However, this strategy could be improved by sequencing the FGFR1, FGFR2, FGFR3, and TWIST1 genes, to determine different pathogenic variants. On the other hand, it would be important to include other genes, such as TCF12 (OMIM 600,480), MSX2 (OMIM 123,101), RAB23 (OMIM 606,144), and EFNB1 (OMIM 300,035), to determine their participation in craniosynostosis in the Mexican population.

Prosopis alba seed flour improves vascular function in a rabbit model of high fat diet-induced metabolic syndrome.

AIMS: Prosopis alba flour is a natural source of nutrient and phytochemicals with potential effects on cardiovascular risk factors. The aim of this work was to examine the effects of dietary supplementation with Prosopis alba seed flour (Pr-Feed) on a high fat diet (FD)-induced rabbit model of metabolic syndrome. MAIN METHODS: Rabbits were separated in four groups: fed regular diet (CD); CD supplemented with Pr-Feed; fed on 18 % FD; FD supplemented with Pr-Feed. All diets were administrated for 6 weeks. After the feeding period body weights, mean blood pressure, heart rate and visceral abdominal fat (VAF) were determined; glucose tolerance test (GTT) was performed; total cholesterol (TC), HDL-cholesterol, LDL-cholesterol, triglycerides (TG), fasting glucose (FG), aspartate amino transferase, alanine amino transferase, bilirubin and creatinine were measured in serum. Abdominal aorta was excised and vascular function was assessed by acetylcholine relaxation and contractile response to KCl, norepinephrine and angiotensin II. KEY FINDINGS: Phytochemical analyses showed that the main compounds of Pr-Feed were apigenin C-glycosides. FD increased VAF, FG, TG, reduced HDL-cholesterol and induced abnormal GTT. Pr-Feed addition to FD did not modify these alterations. Aortic rings from rabbits fed on FD exhibited an impaired relaxation-response to acetylcholine and increased agonist vasoconstrictor responses. Pr Feed-supplemented FD improved the response to acetylcholine, and prevented the increase of the contractile response to KCl, norepinephrine and angiotensin II. SIGNIFICANCE: Results suggest that dietary supplementation with Pr-Feed, rich in apigenin C-glycosides, has vascular protector properties and could be used to prevent vascular alterations characterizing the metabolic syndrome.

Amygdala Functional Connectivity During Self-Face Processing in Depressed Adolescents With Recent Suicide Attempt.

OBJECTIVE: Suicide is the second leading cause of death among adolescents; however, objective biomarkers of suicide risk are lacking. Aberrant self-face amygdala activity is associated with suicide ideation, and its connectivity with neural regions that enable self-processing (eg medial prefrontal cortex) may be a suicide risk factor. METHOD: Adolescents (aged 11-17 years; N = 120) were sorted into four groups: healthy controls (HC), depressed individuals with low suicide ideation (LS), depressed individuals with high suicide ideation (HS), and depressed suicide attempters (SA). Youth completed an emotional (Happy, Sad, Neutral) self-face recognition task in the scanner. Bilateral amygdala task-dependent functional connectivity was determined with psychophysiological interaction analysis. Connectivity was compared across groups and within Self versus Other faces across emotions and hemispheres. Voxelwise results were thresholded (p < .005, uncorrected) and corrected for multiple comparisons (p < .05, familywise error). RESULTS: Both HS and SA displayed greater amygdala connectivity with the dorsolateral prefrontal cortex, dorsomedial prefrontal cortex, and precuneus, compared to LS, who, in turn, showed greater connectivity than HC. Greater left amygdala-rostral anterior cingulate cortex (rACC) connectivity was observed in SA compared to all other groups, whereas right amygdala-rACC connectivity was greater in HS versus LS and HC. CONCLUSION: Greater connectivity between amygdala and other regions implicated in self-face processing differentiated suicide ideation and suicide attempt groups. A dose-dependent response showed that greater rACC-left amygdala connectivity during self-face processing was associated with a recent suicide attempt, but that a greater rACC-right amygdala connectivity was associated with suicide ideation.

Oral administration of Zuccagnia punctata extract improves lipid profile, reduces oxidative stress and prevents vascular dysfunction in hypercholesterolemic rabbits.

BACKGROUND: The consumption of flavonoids has been shown to prevent cardiovascular diseases including atherosclerosis. In this sense, in a recent in vitro study we demonstrated that a rich in flavonoids extract from Zuccagnia punctata has beneficial effects on vascular function in aorta from hypercholesterolemic rabbits. PURPOSE: The aim of this study was to evaluate the ability of a hydroalcoholic extract from Z.puncata (ZpE) to prevent alterations induced by high cholesterol diet in rabbits. METHODS: The major components of the ZpE, flavonoids, were analyzed by using a validated reversed phase HPLC method. Rabbits were separated in five groups: fed standard chow (CD); CD orally administrated 2.5 mg, 5 mg or 10 mg GAE/day ZpE (ZpE- CD); fed 1% cholesterol-enriched chow (HD); HD orally administrated 2.5 mg GAE/day ZpE (ZpE-HD); HD orally administrated 2.5 mg rosuvastatin/day (Ro-HD). All diets were administrated by 6 weeks. Body weights (BW), mean blood pressure (MAP), heart rate (HR), visceral abdominal fat (VAF), organ weight (heart, kidney, liver) and vascular morphology were determined. Total cholesterol (TC), triglycerides (TG), fasting glucose (FG), aspartate amino transferase (AST), alanine amino transferase (ALT), bilirubin, creatinine, thiobarbituric acids reactive substances (TBARS) and glutathione reduced/oxidized index were measured in serum. Abdominal aorta was excised and vascular function was assessed by acetylcholine and sodium nitroprusiate relaxation and contractile response to norepinephrine and angiotensin II. RESULTS: The major compounds of ZpE identified were chalcones: 2',4'-dihydroxy-3'-methoxychalcone and 2',4'-dihydroxychalcone. Oral treatment with ZpE reduced MAP, TC, TG, TBARS, aortic intima/media ratio and increased glutathione reduced/oxidized index in HD rabbits. No differences were found in AST, ALT, bilirubin or creatinine. Acetylcholine relaxation was normalized and contractile response to norepinephrine and angiotensin II was reduced in ZpE-HD. CONCLUSION: Oral administration of ZpE as natural product in the prevention of cardiovascular disease related with hypercholesterolemia and endothelial dysfunction is very promising.

High fat diet-induced metabolically obese and normal weight rabbit model shows early vascular dysfunction: mechanisms involved.

BACKGROUND: Obesity contributes significantly to the development and evolution of cardiovascular disease (CVD) which is believed to be mediated by oxidative stress, inflammation and endothelial dysfunction. However, the vascular health of metabolically obese and normal weight (MONW) individuals is not completely comprehended. OBJECTIVES: The purpose of our study was to evaluate vascular function on the basis of a high fat diet (HFD)-MONW rabbit model. SUBJECTS: Twenty four male rabbits were randomly assigned to receive either a regular diet (CD, n = 12) or a high-fat diet (18% extra fat on the regular diet, HFD, n = 12) for 6 weeks. RESULTS: Body weight, TBARS and gluthathione serum levels were similar between the groups; fasting glucose, triglycerides, C reactive protein (CRP), visceral adipose tissue (VAT), triglyceride-glucose index (TyG index) were higher in the HFD group. Compared to CD, the HFD rabbits had glucose intolerance and lower HDL-cholesterol and plasma nitrites levels. Thoracic aortic rings from HFD rabbits exhibited: (a) a reduced acetylcholine-induced vasorelaxation; (b) a greater contractile response to norepinephrine and KCl; (c) an improved angiotensin II-sensibility. The HFD-effect on acetylcholine-response was reversed by the cyclooxygenase-2 (COX-2) inhibitor (NS398) and the cyclooxygenase-1 inhibitor (SC560), and the HFD-effect on angiotensin II was reversed by NS398 and the TP receptor blocker (SQ29538). Immunohistochemistry and western blot studies showed COX-2 expression only in arteries from HFD rabbits. CONCLUSIONS: Our study shows a positive pro-inflammatory status of HFD-induced MONW characterized by raised COX-2 expression, increase of the CRP levels, reduction of NO release and oxidative stress-controlled conditions in an early stage of metabolic alterations characteristic of metabolic syndrome. Endothelial dysfunction and increased vascular reactivity in MONW individuals may be biomarkers of early vascular injury. Therefore, the metabolic changes induced by HFD even in normal weight individuals may be associated to functional alterations of blood vessels.

MSX1 gene polymorphisms in Mexican patients with non-syndromic cleft lip/palate.

OBJECTIVE: Non-syndromic cleft lip/palate malformation (CL/P) is one of the most common birth defects in humans and has a complex etiology involving genetic and environmental factors. Mutations in the MSX1 gene are critical during craniofacial development. The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing CL/P in a sample of Mexican patients. METHODS: The sample consisted of 282 subjects (69 cases and 213 relatives). Four single-nucleotide polymorphisms (SNP1, P147Q, SNP5 and P278S) were tested for association with CL/P in triad and case-pseudo-control analyses. Polymorphism typing was performed by restriction fragment length polymorphism and dot-blot techniques. Allele and genotype frequencies were calculated between patients and pseudo-controls and compared using the Chi square test with Yates correction. Odds ratios and 95% confidence intervals were obtained using SPSS software (v19). Triad analysis was also performed using the program HAPLIN (v5.3). RESULTS: In the cases and pseudo-controls, an association was found between CL/P and the SNP1-G allele (P = 0.031) and the SNP1-G/G genotype (P = 0.032), a polymorphism located near MSX1. Triad analysis showed a tendency toward CL/P susceptibility for the genotype SNP1-G/G (P = 0.075) and an association between CL/P and the haplotype GCTC (P = 0.037). No associated haplotype was found in the cases and pseudo-controls. Two partial haplotypes, GT (SNP1-SNP5) (P = 0.032) and GC (SNP1-P278S) (P = 0.033), were associated with susceptibility in the heterozygous and homozygous types, respectively. In contrast, haplotype AT (SNP1-SNP5) was associated with protection (P = 0.012) in the homozygous type. CONCLUSIONS: The results of this study suggest an association between CL/P susceptibility and SNP1, located near the MSX1 gene, in the Mexican population.

Stearoyl-CoA desaturase indexes and n-6/n-3 fatty acids ratio as biomarkers of cardiometabolic risk factors in normal-weight rabbits fed high fat diets.

BACKGROUND: Biomarkers for cardiometabolic risk (CMR) factors would be important tools to maximize the effectiveness of dietary interventions to prevent cardiovascular diseases. Thus, the aim of this work was to analyze stearoyl-CoA desaturase (SCD) indexes and n-6/n-3 fatty acids (FA) ratio as biomarkers of CMR induced by feeding rabbits on high fat diets (HFDs). METHODS: Rabbits were fed either regular diet or 18 % fat in regular diet (HFD) or 1 % cholesterol diet (HD) or diet containing 1 % cholesterol and 18 % fat (HFD-HD) during 6 weeks. Body weights (BW), blood pressure, visceral abdominal fat (VAF) and glucose tolerance test were determined. Total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C), high density lipoprotein-cholesterol (HDL-C), triglycerides (TG), fasting glucose (FG), and FA levels from plasma were measured. SCD indexes were calculated as product/precursor ratios of individual FA. RESULTS: BW was similar in all diet groups. HD increased TC, LDL-C, HDL-C, and TG. HFD increased TG, VAF and FG, and decreased HDL-C. The addition of HFD to HD joined to dyslipidemia increased VAF and FG. SCD indexes were increased and n-6/n-3 was unchanged in HD. SCD indexes were reduced and n-6/n-3 FA ratio was increased in HFD and HFD-HD. CMR factors were correlated positively with n-6/n-3 FA ratio. Although VAF had a stronger correlation with n-6/n-3 FA ratio than with SCD indexes, VAF was associated independently to both markers. CONCLUSIONS: HFD simulating lipid composition of the average Western-style diet induced experimental rabbit models of normal-weight metabolic syndrome (MS). SCD indexes and n-6/n-3 were modified according to the type of dietary fat. Considering that VAF and CMR factors appear to be stronger associated to n-6/n-3 FA ratio than to SCD indexes, n-6/n-3 FA ratio may be a better biomarker of MS and CMR in normal-weight subjects than SCD indexes.

IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip.

Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in Europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. Orofacial development is a complex process involving many genes and signaling pathways. Mutations in the gene for the interferon regulatory factor 6 (IRF6) cause a hereditary dominant malformation syndrome including CL/P, and polymorphisms are associated with non-syndromic CL/P (MIM 119530). Five SNPs at the locus with high heterozygosity in Caucasian populations were chosen for the present research due to their very strong association with CL/P. A case-parent trio study was performed using 292 samples from Mexico. Association with the rs1319435-C/C genotype (P = 0.02) was found in patients (73) as compared to pseudocontrols (219), while the genotype rs1319435-T/C was related with protection (P = 0.041) in the triad design. Significant over-transmission of the G allele for marker rs2235375 (P = 0.049) was found. Only the TACGT haplotype was diminished in the affected child, either in single (P = 0.0208) or double (P = 0.0208) dose. The pairwise analysis showed rs2235543 and rs2235371 were in strong linkage disequilibrium. These results point to a substantial contribution of IRF6 in the etiology of non-syndromic CL/P in a sample of the Mexican population.

Esclerodermia localizada: serie de casos en un hospital general y revisión de la literatura / Localized scleroderma: cases report in a general hospital and literature review

La esclerodermia localizada o morfea es una entidad inflamatoria que se caracteriza por fibrosis de la piel y tejido subyacente, se manifiesta clínicamente por zonas induradas y delimitadas con un halo eritematovioláceo, que luego se tornan hipopigmentadas o hiperpigmentadas. Se recolectaron 11 casos de esclerodermia localizada en el periodo de 1990 a 2014 en el Hospital Nacional Dos de Mayo de los cuales se excluyeron 4 por no presentar registros fotográficos. De Los 7 casos estudiados, uno correspondió a morfea circunscrita; cinco a morfea lineal, dentro de Los cuales se incluyeron dos casos de síndrome de Parry-Romberg que fueron seguidos desde el inicio de su enfermedad; una a morfea mixta y una a morfea panesclerótica. Correspondieron al sexo femenino 71 % de todos los casos, el rango de edad de los pacientes fue de 10 a 23 años y el tiempo promedio de evolución de su enfermedad desde el momento del diagnóstico fue de 3,9 años. Cinco (5) de Los pacientes presentaron evolución favorable, con remisión parcial de la enfermedad, y dos (2) pacientes, con síndrome de Parry-Romberg, fallecieron por complicaciones asociadas a la afectación neurológica.

Morphea or localized scleroderma is an inflammatory entity characterized by fibrosis of the skin and underlying tissue, is clinically manifested by areas thickened and delimited with a halo erythematous becoming then hypopigmented and hyperpigmented. Eleven cases of scleroderma in the period of 1990 to 2014 in the Hospital Nacional Dos de Mayo from which we excluded 4 by not showing photographic records were collected. Of the 7 cases studied, one corresponded to circumscribed morphea; five a linear morphea, within which included two cases of Parry-Romberg syndrome who were followed from the beginning of his illness; a mixed morphea and one to pansclerotic morphea; 71 % of all cases corresponded to the female sex, the age of the patients ranged from 10 to 23 years and the average time of evolution of his disease from the time of diagnosis was 3,9 years. Five of the patients presented a positive evolution with partial remission of the disease and two patients, with Parry-Romberg syndrome, died of complications associated with the neurological compromise.

Manifestaciones cutáneas de enfermedades asociadas a infección por HTLV-1 / Cutaneous manifestations of diseases associated with HTLV-I infection

Se presentan siete casos, cuatro mujeres y tres varones. La edad promedio de los pacientes fue 29,5 años, incluido un niño. Todos fueron seropositivos a HTLV-l; y, dos de ellos también lo fueron para el VIH. Solo en dos casos se planteó inicialmente como posible diagnóstico de infección por HTLV-l. El diagnóstico clínico e histopatológico correspondió a dermatitis infectiva, uno; estrongiloidiasis sistémica, dos; sarna costrosa, dos; leucemia/linfoma de células T del adulto, uno; y, una presentación atípica de carcinoma escamoso infiltrante. Se concluye que existe una baja sospecha clínica inicial de diagnóstico de enfermedades sistémicas con manifestaciones cutáneas asociadas a la infección por HTLV-l, no obstante, que se realiza la práctica médica en un área endémica...

Seven cases, four women and three men, are presented. The average age was 29,5 year-old, including a child. All were seropositive to HTLV-l and two of them were also for HN. Only in two cases was initially raised a possible diagnosis of HTLV-l infection. The clinical and histopathological diagnosis corresponded to infective dermatitis, one; systemic strongyloidiasis, two; crusted scabies, two; adult T-cell leukemia/lymphoma, one; and, an atypical presentation of invasive squamous cell carcinoma. lt is concluded that there is a low initial suspicion for clinical diagnosis of cutaneous manifestations of generalized diseases associated to HTLV-l infection despite of we live in an endemic area...

[Incidence of congenital heart disease and factors associated with mortality in children born in two Hospitals in the State of Mexico]. / Incidencia de las cardiopatías congénitas y los factores asociados a la letalidad en niños nacidos en dos hospitales del Estado de México.

We studied the incidence, survival, and risk factors for mortality in a cohort of infants for a period of five years, born in two hospitals, one a second-level General Hospital, the second a tertiary perinatal hospital, both in the City of Toluca. The analysis of survival was performed with the Kaplan-Meier method, and Cox regression was used to estimate the risk of death according to different factors. We found an overall incidence of 7.4 per 1,000 live births; in preterm infants, the rate was 35.6 per 1,000, and in term newborns it was 3.68 per 1,000. The most common heart disease was the ductus arteriosus in the overall group and in preterm infants; in term newborns the most common was the atrial septal defect. The specific mortality was 18.64%, follow-up was 579 days, where we found, according to Kaplan-Meier, survival of an average of 437.92 days, with 95% confidence intervals of 393.25 to 482.6 days, with a standard error of 22.79 days; the cumulative probability of survival was 0.741, with a standard error of 0.44. In Cox regression, two variables had a high hazard ratio (HR): these were the presence or absence of cyanosis and the hospital where they were treated as newborns.

Performance of the international classifications criteria for autoimmune hepatitis diagnosis in Mexican patients.

The revised score of the International Autoimmune Hepatitis Group (R-IAIHG) and the simplified criteria (SC) are used for diagnosis of autoimmune hepatitis (AIH). Our aim is to evaluate the performance of these classifications to differentiate AIH from other autoimmune liver diseases. The frequency of diagnosis of definite AIH was similar both by the R-IAIHG and the SC systems (41% versus 40%), whereas diagnosis of probable AIH was made more commonly by the R-IAIHG than the SC (59% versus 29%), and 23 patients that have been graded as definite (n = 7) or probable (n = 16) AIH by the R-IAIHG had non-diagnostic scores by the SC system. The scoring systems rendered concordant diagnosis of definite (n = 15) and probable (n = 13) AIH in 28/73 patients (38%). Discordant diagnoses of AIH were rendered in 45/73 patients (62%). The R-IAIHG exhibited a sensitivity of 95%, specificity of 90%, and positive predictive value (PPV) and negative predictive value (NPV) of 93% for both. On the other hand, the SC had a lower sensitivity (65%) but a higher specificity (100%), PPV of 100%, and NPV of 68%. In conclusion, both international scoring systems diagnosed the same number of cases as definite AIH. The R-IAIHG showed a higher sensitivity in diagnosing AIH, whereas the SC showed a higher specificity. SC are easier to apply at the bedside and exclude more patients that could have a different etiology.