Filaggrin loss-of-function mutations are associated with persistence of egg and milk allergy.

BACKGROUND: A genetic defect in the epidermal barrier protein filaggrin (FLG) plays a major role in the etiology of eczema and associated allergic airways diseases. However, it is still controversial to what extend loss-of-function (LOF) mutations in FLG contribute to the development and persistence of food allergies. OBJECTIVES: This study tested association of FLG LOF mutations with allergic reactions to diverse foods and investigated their potential effect on the persistence of early food allergies. METHODS: This study recruited 890 children with challenge-proven food allergy for the German Genetics of Food Allergy Study (GOFA). Longitudinal data were available for 684 children. All children were clinically characterized, including their allergic responses to specific foods, and genotyped for the 4 most common LOF mutations in FLG; R501X, 2282del4, R2447X, and S3247X. Associations between FLG mutations and food allergies were analyzed by logistic regression using the German Multicenter Allergy Study cohort as the control population. RESULTS: FLG mutations were associated with allergies to diverse foods including hen's egg (HE), cow's milk (CM), peanut, hazelnut, fish, soy, cashew, walnut, and sesame with similar risk estimates. Effects remained significant after adjusting for the eczema status. Interestingly, FLG mutations increased the risk of a persistent course of HE and CM allergy. CONCLUSIONS: Using the gold standard for food allergy diagnosis, this study demonstrates that FLG LOF mutations confer a risk of any food allergy independent of eczema. These mutations predispose to the persistence of HE and CM allergy and should be considered in the assessment of tolerance development.

Sagittal cranial projections dataset extracted from CBCT volumes corrected to natural head position in a mixed ethnicity population.

This dataset features 200 sagittal projection images derived from Cone Beam Computed Tomography (CBCT) scans, corrected according to the Natural Head Position (NHP) guidelines proposed by Fredrik Lundström and Anders Lundström. The images originate from orthodontic patients in Cali, Valle del Cauca, Colombia, encompassing both initial phases and ongoing treatments. The dataset is divided into two groups: 100 images from female subjects (CoF) and 100 from male subjects (CoM), facilitating gender-specific studies. The dataset is accompanied by an Excel file ``Data info.xlsx'' that details the rotation angles in the axial (Yaw), coronal (Roll), and sagittal (Pitch) planes, along with the pixel size and image dimensions. This detailed documentation supports the replication of studies and aids in the interpretation of cephalometric analyses. Corrections made to align the images with NHP standards involve adjustments in the three main anatomical planes using points from the frontozygomatic suture (Fz) in the axial and coronal planes, and sella (S) and nasion (N) for the sagittal plane.

Knowledge and Attitudes of Parents about Oral Health in the Primary Dentition Stage in a Peruvian High Andean City.

Children's oral health depends on parents' knowledge and attitudes. The primary dentition stage, in particular, plays a crucial role in the comprehensive development of children. Therefore, the objective was to evaluate parents' knowledge and attitudes about oral health in the primary dentition stage in Chachapoyas (Amazonas, NW Peru). A questionnaire was administered to 409 parents from 15 educational institutions, and the data were analyzed using multinomial logistic regression. Among the surveyed parents, 75.3% could identify at least one habit harmful to their children's teeth (such as excessive sugar consumption) and one of its effects (such as dental caries). Additionally, 77.5% reported that their children presented some dental problem, more frequent in the peripheral areas than in the city's center. Gender (odd ratio, OR = 0.484; p = 0.037), educational level (OR = 2.144; p = 0.043), and type of health insurance (OR = 2.627; p = 0.044) of the parents influenced awareness of taking care of their children's primary dental health. The geographic location of the school (1.729 < OR < 2.079; p ≤ 0.011) and family income (OR = 3.504; p = 0.028) influenced parents' identification of the different harmful effects of children's habits. Factors such as low socioeconomic status and never taking the child to the dentist increased the risk of dental problems (p < 0.05). It is suggested that peripheral areas, like rural areas, lack the same oral health programs and access to treatment as central urban areas, leading to disparities in parental knowledge and attitudes.

Transversus Abdominis Plane Block as Part of a Multimodal Analgesic Regimen in Patients Undergoing Anterior Lumbar Interbody Fusion: A Retrospective Cohort Study.

BACKGROUND: Opioids are a mainstay for pain control in patients undergoing lumbar spine surgery but are associated with a high risk of dependence and significant adverse effects. Efforts continue to be made to utilize non-narcotic agents such as regional nerve block for pain control as part of a multimodal analgesia regimen. Recently, transversus abdominis plane (TAP) blocks have proven beneficial for patients undergoing lumbar fusion procedures. The purpose of this study is to evaluate the efficacy of TAP blocks for postoperative pain control and the effect on opioid consumption and hospital length of stay (LOS) in patients undergoing anterior lumbar interbody fusion (ALIF). METHODS: A retrospective review of patients undergoing elective ALIF included collection of data on demographics, LOS, pain scores using visual analog scale (VAS), opioid consumption using morphine milligram equivalents (MME) from postoperative day (POD) 0 to 5, and any complications. Patients who underwent primary ALIF or ALIF with concomitant posterolateral lumbar fusion were included. RESULTS: A total of 99 patients met inclusion criteria; 47 had a preoperative TAP block and 52 did not. Demographic data and number of levels fused were equally distributed between the groups. The TAP group had significantly lower MME consumption postoperatively during POD 0 to 2 and 0 to 5. VAS pain scores were lower for TAP block patients on POD 3 and 4; otherwise, there was no significant difference. LOS and complication rates were not significantly different. A multiple regression analysis found male sex to be a predictor of increased postoperative MME, while age and TAP block were significant predictors of decreased MME. CONCLUSIONS: The use of TAP block for patients undergoing ALIF was associated with less cumulative MME consumption in the immediate postoperative period. TAP block may be an effective tool for reducing postoperative opioid consumption in patients undergoing ALIF. CLINICAL RELEVANCE: The data in this study provide clinical relevance supporting the use of TAP blocks for patients undergoing ALIF procedures.

New insights from genetic studies of eczema.

Genome-wide association studies (GWAS) provided fundamental insight into the genetic determinants of complex allergic diseases. For eczema, 58 susceptibility loci were reported. Protein-changing variants were associated with eczema at genome-wide significance at 12 loci. The majority of risk variants were, however, located in non-coding, regulatory regions of the genome. Prioritized target genes were enriched in pathways of the immune response and of epithelial barrier function. Interestingly, a large overlap in the genetic architecture underlying different allergic diseases was identified pointing to common pathomechanisms for eczema, asthma, hay fever, and food allergy. Here, we review the most recent findings from GWAS for eczema including the role of rare variants and genetic heterogeneity in ethnically diverse populations. In addition, we provide an overview of genes underlying Mendelian disorders featuring eczematous skin inflammation.

Intraoperative Methadone Reduces Postoperative Opioid Requirements in Nuss Procedure for Pectus Excavatum.

INTRODUCTION: Surgical correction of pectus excavatum by Nuss procedure, commonly referred to as minimally invasive repair of pectus excavatum (MIRPE), often results in significant postoperative pain. This study investigated whether adding intraoperative methadone would reduce the postoperative opioid requirement during admission for patients undergoing MIRPE. METHODS: A retrospective cohort chart review was conducted for 40 MIRPE patients between 2018 and 2020. Patients were stratified into 2 groups: those who received multimodal anesthesia (MM, n = 20) and those who received multimodal anesthesia with the addition of intraoperative methadone (MM + M, n = 20). Data collected included total opioid consumption during hospital stay (morphine milligram equivalents [MMEs]), hospital length of stay (LOS), pain scores, time to ambulation, and time to tolerating solid food. RESULTS: Addition of intraoperative methadone for patients undergoing MIRPE significantly reduced postoperative opioid requirements (MME/kg) during admission (P = .007). On average, patients in the MM group received 1.61 ± .55 MME/kg while patients in the MM + M group received 1.16 ± .44 MME/kg. Hospital opioid (non-methadone) total was also significantly reduced between the MM (1.87 ± .54) and MM + M group (1.37 ± .46), P = .003. There was no significant difference in hospital opioid total MME/kg administered between the groups. There were no significant differences observed in hospital LOS, pain scores, time to ambulation, or time to toleration of solid food. DISCUSSION: Incorporating intraoperative methadone for patients undergoing MIRPE reduced postoperative opioid requirements and hospital opioid (non-methadone) totals without a significant change in pain scores. Patients undergoing the Nuss procedure may benefit from the administration of intraoperative methadone.

Current approaches to exploit actinomycetes as a source of novel natural products.

For decades, microbial natural products have been one of the major sources of novel drugs for pharmaceutical companies, and today all evidence suggests that novel molecules with potential therapeutic applications are still waiting to be discovered from these natural sources, especially from actinomycetes. Any appropriate exploitation of the chemical diversity of these microbial sources relies on proper understanding of their biological diversity and other related key factors that maximize the possibility of successful identification of novel molecules. Without doubt, the discovery of platensimycin has shown that microbial natural products can continue to deliver novel scaffolds if appropriate tools are put in place to reveal them in a cost-effective manner. Whereas today innovative technologies involving exploitation of uncultivated environmental diversity, together with chemical biology and in silico approaches, are seeing rapid development in natural products research, maximization of the chances of exploiting chemical diversity from microbial collections is still essential for novel drug discovery. This work provides an overview of the integrated approaches developed at the former Basic Research Center of Merck Sharp and Dohme in Spain to exploit the diversity and biosynthetic potential of actinomycetes, and includes some examples of those that were successfully applied to the discovery of novel antibiotics.

Isolation, structure, and antibacterial activities of lucensimycins D-G, discovered from Streptomyces lucensis MA7349 using an antisense strategy.

Bacterial resistance to existing antibiotics continues to grow, necessitating the discovery of new compounds of this type. Antisense-based whole-cell target-based screening is a new and highly sensitive antibiotic discovery approach that has led to a number of new natural product antibiotics. Screening with a rpsD-sensitized strain led to the discovery of a number of natural product polyketides from Streptomyces lucensis. Complete workup of the fermentation extract of this strain allowed for the isolation of seven new compounds, lucensimycins A-G (1-3, 4a, 5-7), with varying degrees of antibacterial activities. Lucensimycin E (5) exhibited the best activity and showed MIC values of 32 microg/mL against Staphylococcus aureus and 8 microg/mL against Streptococcus pneumoniae. The isolation, structure elucidation, and antibacterial activities of four new members, lucensimycins D-G, are described. Lucensimycins D (4a) and E (5) are N-acetyl-l-cysteine adducts of lucensimycin A (1). Semisynthesis of lucensimycins D and E from lucensimycin A has also been described. Lucensimycins F and G are myo-inositolyl-alpha-2-amino-2-deoxy-l-idosyl amide derivatives of lucensimycins D and E, respectively. The relative configuration of these compounds was determined, in part, by molecular dynamics simulations.

Isolation, structure, and antibacterial activity of philipimycin, a thiazolyl peptide discovered from Actinoplanes philippinensis MA7347.

Bacterial resistance to antibiotics, particularly to multiple drug resistant antibiotics, is becoming cause for significant concern. The only really viable course of action is to discover new antibiotics with novel mode of actions. Thiazolyl peptides are a class of natural products that are architecturally complex potent antibiotics but generally suffer from poor solubility and pharmaceutical properties. To discover new thiazolyl peptides potentially with better desired properties, we designed a highly specific assay with a pair of thiazomycin sensitive and resistant strains of Staphylococcus aureus, which led to the discovery of philipimycin, a new thiazolyl peptide glycoside. It was isolated along with an acid-catalyzed degradation product by bioassay-guided fractionation. Structure of both compounds was elucidated by extensive application of 2D NMR, 1D TOCSY, and HRESIFT-MS/MS. Both compounds showed strong antibacterial activities against gram-positive bacteria including MRSA and exhibited MIC values ranging from 0.015 to 1 microg/mL. Philipimycin was significantly more potent than the degradation product. Both compounds showed selective inhibition of protein synthesis, indicating that they targeted the ribosome. Philipimycin was effective in vivo in a mouse model of S. aureus infection exhibiting an ED50 value of 8.4 mg/kg. The docking studies of philipimycin suggested that a part of the molecule interacts with the ribosome and another part with Pro23, Pro22, and Pro26 of L11 protein, which helped in explaining the differential of activities between the sensitive and resistant strains. The design and execution of the bioassay, the isolation, structure, in vitro and in vivo antibacterial activity, and docking studies of philipimycin and its degradation product are described.

Anthelmintic macrolactams from Nonomuraea turkmeniaca MA7381.

A new macrolactam, fluvirucin B0 (1), and two known macrolactams, Sch 38516/fluvirucin B1 (2) and Sch 39185/fluvirucin B3 (3), have been isolated from an acetone extract of a strain of Nonomuraea turkmeniaca. These compounds were isolated by bioassay-guided fractionation as part of our search for new anthelmintics. The structures of these compounds were elucidated by comparison of their NMR and MS data to those of previously reported fluvirucins, and confirmed by 2D-NMR. 1approximately 3 exhibited in vitro activity (EC90 <1.0 approximately 1.7 microg/ml) against Haemonchus contortus larvae, but were ineffective in reducing worm counts in vivo against Heligmosomoides polygyrus in mice at 50 mg/kg dosed intramuscularly.

Isolation and structure elucidation of thiazomycin- a potent thiazolyl peptide antibiotic from Amycolatopsis fastidiosa.

Thiazolyl peptides are a class of rigid macrocyclic compounds richly populated with thiazole rings. They are highly potent antibiotics but none have been advanced to clinic due to poor aqueous solubility. Recent progress in this field prompted a reinvestigation leading to the isolation of a new thiazolyl peptide, thiazomycin, a congener of nocathiacins. Thiazomycin possesses an oxazolidine ring as part of the amino-sugar moiety in contrast to the dimethyl amino group present in nocathiacin I. The presence of the oxazolidine ring provides additional opportunities for chemical modifications that are not possible with other nocathiacins. Thiazomycin is extremely potent against Gram-positive bacteria both in vitro and in vivo. The titer of thiazomycin in the fermentation broth was very low compared to the nocathiacins I and III. The lower titer together with its sandwiched order of elution presented significant challenges in large scale purification of thiazomycin. This problem was resolved by the development of an innovative preferential protonation based one- and/or two-step chromatographic method, which was used for pilot plant scale purifications of thiazomycin. The isolation and structure elucidation of thiazomycin is herein described.

Prevalencia del síndrome de ovario poliquístico por ecografía en el hospital Virgen de Fátima - Chachapoyas / Prevalence of polycystic ovary syndrome by ultrasonography at the hospital Virgen of Fatima ­ Chachapoyas / Prevalência da síndrome dos ovários policísticos por ultrassonografia no hospital Virgem do Fátima ­ Chachapoyas

El síndrome de ovario poliquístico (SOP) es una anormalidad endocrino - metabólica común con una prevalencia a nivel mundial equivalente al 4% siendo una patología de interés que afecta la salud de las mujeres. OBJETIVO: determinar la prevalencia del síndrome de ovario poliquístico por Ecografía en el Hospital Virgen de Fátima, Chachapoyas. MATERIALES Y MÉTODOS: el estudio fue de enfoque cuantitativo, descriptivo de prevalencia, retrospectivo, trasversal, la muestra lo formaron 300 historias clínicas. RESULTADOS: del 100% historias clínicas, la tasa de prevalencia del SOP por ecografía fue del 56.3 x 100. Así mismo existe una Tasa de Prevalencia (TP) del SOP bilateral es de 52.6 x 100 historias clínicas; la TP del SOP derecho es de 2 x 100 y del SOP Izquierdo es de 1.6 x 100. CONCLUSIONES: la TP del SOP por ecografía es muy alta, ya que más de la mitad de la población sufre esta patología. Así mismo el SOP de tipo bilateral es el más predominante en un 52.6 x cada 100.

Polycystic ovary syndrome (PCOS) is a common endocrine-metabolic abnormality with a worldwide prevalence equivalent to 4% being a pathology of interest that affects women's health. OBJECTIVE: to determine the prevalence of polycystic ovary syndrome by ultrasound at the Hospital Virgen de Fatima, Chachapoyas. MATERIALS AND METHODS: the study was a quantitative, descriptive, retrospective, cross-sectional, retrospective, prevalence study, the sample consisted of 300 medical records. RESULTS: of the 100% medical records, the prevalence rate of PCOS by ultrasound was 56.3 x 100. Likewise, there is a Prevalence Rate (PT) of bilateral PCOS of 52.6 x 100 medical records; the PT of right PCOS is 2 x 100 and of left PCOS is 1.6 x 100. CONCLUSIONS: the PT of PCOS by ultrasound is very high, since more than half of the population suffers from this pathology. Likewise, bilateral PCOS is the most predominant at 52.6 per 100.

A síndrome do ovário policístico (PCOS) é uma anormalidade endócrina metabólica comum com uma prevalência mundial de 4% e é uma patologia de interesse que afeta a saúde da mulher. OBJETIVO: para determinar a prevalência da síndrome dos ovários policísticos por ultra-som no Hospital Virgen de Fátima, Chachapoyas. MATERIAIS E MÉTODOS: o estudo foi um estudo quantitativo, descritivo, retrospectivo, transversal, de prevalência retrospectiva, com uma amostra de 300 prontuários médicos. RESULTADOS: dos 100% dos registros médicos, a taxa de prevalência de PCOS por ultra-som foi 56,3 x 100. CONCLUSÕES: da mesma forma, a Taxa de Prevalência (TP) de PCOS bilateral é 52,6 x 100 registros médicos; o TP de PCOS direito é 2 x 100 e o de PCOS esquerdo é 1,6 x 100. O PT do PCOS por ultra-som é muito alto, pois mais da metade da população sofre desta patologia. O PCOS bilateral é o tipo mais predominante a 52,6 por 100.

Mineral Profile of Children's Fast Food Menu Samples.

Children's fast food menus, including hamburgers served with french fries, dessert, and a soft drink, were analyzed to obtain the mineral profile of trace elements. The developed analytical methodology involved sample digestion under pressure inside a microwave oven with a mixture of HNO3 and H2O2 and inductively coupled plasma-optical emission spectrometry. The method was validated by carrying out the analysis of certified reference materials (NIST 1570a spinach leaves, NCS ZC73016 chicken, and NIST 1568a rice flour) and using recovery experiments. Repeatability was verified by analyzing replicate samples. Twenty-six elements were studied, 12 of which-aluminum, barium, calcium, copper, iron, potassium, lithium, magnesium, manganese, sodium, strontium, and zinc-were quantitatively determined. Results were compared with other studies of fast food and children's menus published in the literature, and the nutritional value of samples was assessed with dietary intake guidelines.

Discovery of lucensimycins A and B from Streptomyces lucensis MA7349 using an antisense strategy.

Inhibition of protein synthesis is one of the validated and highly successful targets for inhibition of bacterial growth; this mechanism is a target of a large number of clinical drugs. Ribosomal protein S4, a primary protein, is a potential target for the discovery of antibacterial agents. We describe, using an antisense-sensitized rpsD Streptomyces aureus strain, the discovery and activity of lucensimycins A and B. [structure: see text].

Impersonal Care or Humanized Care:a Decision Made by Nurses? Hourglass Model.

OBJECTIVES: Facultad de Enfermería, Universidad de Antioquia. METHODS: This was a phenomenological interpretive study with 16 adult participants between 29 and 62 years of age, selected through purposeful sampling. The study was based on in-depth interviews to construct the information and on the procedures proposed by Munhal for the analysis. RESULTS: This work revealed a complex relation, understood as vicariant, between humanized care and impersonal care that influence upon independent aspects of the social and legal system, health institutions, and nurses. The themes comprising the experience of humanized care are described in the "hourglass" model. CONCLUSIONS: Humanized care can displace impersonal care or vice versa, according to the orientation of nurses in the care practice and some elements from the institutional context.

The meaning of humanized nursing care for those participating in it: Importance of efforts of nurses and healthcare institutions.

OBJECTIVE: This study sought to understand this study sought to understand the meaning of the experience of humanized nursing care from the perspective of patients, relatives, and nurses. METHODS: This was an interpretative phenomenological study that included 16 adult participants and which was based on in-depth interviews to gather the information and on the procedures proposed by Cohen, Kahn, and Steeves to analyze the information. RESULTS: Efforts by healthcare institutions and nurses are key elements to advance from impersonal care toward humanized care because these will permit revising and eliminating the barriers present in the current exercise of caring. The results highlight the importance of the effort for humanized behavior from nurses, given that because they are human beings their behavior in the relationship with patients is not always have that connotation. CONCLUSION: Humanized care is not only supported on the human condition of nurses or on the institutional intentions, but on attitudes and on a disposition focused on the patient's wellbeing. Additionally, tensions in nursing care are solved through humanizing efforts.

COVID-19 y metabolismo: una mirada más allá del sistema respiratorio y de la enfermedad trombótica / COVID-19 and metabolism: a look beyond the respiratory system and thrombotic disease

Resumen La COVID-19 es una enfermedad infecciosa causada por el coronavirus del síndrome respiratorio agudo severo 2 (SARS-CoV-2) que tiene importantes manifestaciones sobre el sistema cardiovascular y respiratorio. Esta enfermedad, descrita en los primeros días de diciembre de 2019 en la ciudad de Wuhan, capital de la provincia de Hubei, en China, tuvo una rápida expansión mundial y fue declarada por la Organización Mundial de la Salud como pandemia el 11 de marzo de 2020. Tiene diferentes presentaciones clínicas, como neumonía, hipoxemia, falla renal, falla multisistémica, compromiso endotelial que lleva a lesiones trombóticas venosas y arteriales, y problemas cardiacos como insuficiencia cardiaca, miocarditis, arritmias e infarto de miocardio de los tipos 1 y 2. La mayoría de las personas presentan una enfermedad leve o no complicada (80%), y otras (20%) pueden desarrollar un cuadro grave con neumonía, síndrome de dificultad respiratoria, choque cardiogénico, trombosis y tormenta de citocinas (el 15% se manejan con oxigenoterapia y el 5% ameritan tratamiento en la unidad de cuidados intensivos). La mortalidad está relacionada con la edad y con la comorbilidad (hipertensión arterial, diabetes mellitus, enfermedades respiratorias, enfermedades cardiacas en general, enfermedades renales y obesidad). El objetivo de esta revisión narrativa es describir las alteraciones metabólicas y la relación de la diabetes mellitus, la obesidad, el síndrome metabólico y la dislipidemia con la morbilidad y la mortalidad vinculadas a la COVID-19.

Abstract COVID-19 is an infectious disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and that has important manifestations on the cardiovascular system and respiratory. This disease described in the first days of December 2019 in the city of Wuhan, capital of the province of Hubei, China, with a rapid global expansion and declared by the World Health Organization as a pandemic on March 11, 2020, has different clinical presentations such as pneumonia, hypoxemia, kidney failure, multisystem failure, endothelial involvement leading to venous and arterial thrombotic lesions, and heart problems such as heart failure, myocarditis, arrhythmias, and type 1 and 2 myocardial infarction. Most people have a mild or uncomplicated disease (80%), and others (20%) may develop a severe case with pneumonia, respiratory distress syndrome, cardiogenic shock, thrombosis, and cytokine storm (15% are managed with oxygen therapy and 5% merit treatment in the intensive care unit). Mortality is related to age and comorbidity (high blood pressure, diabetes mellitus, respiratory diseases, heart diseases in general, kidney diseases, and obesity). The objective of this narrative review is to describe the metabolic alterations and the relationship between diabetes mellitus, obesity, metabolic syndrome, and dyslipidemia with the morbidity and mortality associated with COVID-19 infection.

Humanized care: A relationship of familiarity and affectivity.

OBJECTIVE: This work sought to understand the meaning of humanized nursing care in the experience of participants, nurses, patients, and their relatives. METHODOLOGY: This was an interpretive phenomenological study based on in-depth interviews, which included 16 adult participants and was conducted in Medellín, Colombia, between December 2012 and March 2013. RESULTS: The patient’s situation, the nurses’ communication skills, and the condition of both, as human beings, influence upon the words, gestures and attitudes during the nurse-patient relationship, where the presence, that which is done, and how it is done permit leaving an important impression on patients and their relatives. CONCLUSION: The interaction between patients and nurses goes through various stages until achieving the necessary empathy, compassion, affection, and familiarity to account for humanized care.

Association of HMOX1 and NQO1 Polymorphisms with Metabolic Syndrome Components.

Metabolic syndrome (MetS) is among the most important public health problems worldwide, and is recognized as a major risk factor for various illnesses, including type 2 diabetes mellitus, obesity, and cardiovascular diseases. Recently, oxidative stress has been suggested as part of MetS aetiology. The heme oxygenase 1 (HMOX1) and NADH:quinone oxidoreductase 1 (NQO1) genes are crucial mediators of cellular defence against oxidative stress. In the present study, we analysed the associations of HMOX1 (GT)n and NQO1 C609T polymorphisms with MetS and its components. Our study population comprised 735 Mexican Mestizos unrelated volunteers recruited from different tertiary health institutions from Mexico City. In order to know the HMOX1 (GT)n and NQO1 C609T allele frequencies in Amerindians, we included a population of 241 Amerindian native speakers. Their clinical and demographic data were recorded. The HMOX1 (GT)n polymorphism was genotyped using PCR and fluorescence technology. NQO1 C609T polymorphism genotyping was performed using TaqMan probes. Short allele (<25 GT repeats) of the HMOX1 polymorphism was associated with high systolic and diastolic blood pressure, and the T allele of the NQO1 C609T polymorphism was associated with increased triglyceride levels and decreased HDL-c levels, but only in individuals with MetS. This is the first study to analyse the association between MetS and genes involved in oxidative stress among Mexican Mestizos. Our data suggest that polymorphisms of HMOX1 and NQO1 genes are associated with a high risk of metabolic disorders, including high systolic and diastolic blood pressure, hypertriglyceridemia, and low HDL-c levels in Mexican Mestizo individuals.

[Prevalence of gastrointestinal disorders in adults with common variable immunodeficiency at Specialty Hospital Dr. Bernardo Sepulveda]. / Prevalencia de alteraciones gastrointestinales en adultos con inmunodeficiencia común variable en el Hospital de Especialidades Dr. Bernardo Sepúlveda.

BACKGROUND: The common variable immunodeficiency (CVID) shows a variable incidence, from 1:15,000 to 1:117,000, without gender predominance. The incidence of gastrointestinal manifestations in these patients ranges from 20-60%, and these may be the first and only clinical manifestation of CVID, while other patients develop gastrointestinal complications during the course of it. In Mexico there is little information regarding the type and frequency of gastrointestinal disorders presented by adult patients with CVID. OBJECTIVE: To determine the prevalence of gastrointestinal manifestations in adult patients with CVID. MATERIAL AND METHOD: A descriptive, cross-sectional and observational study was made including patients with CVID attending Primary Immunodeficiency Clinic of Allergy and Clinical Immunology Department, Specialties Hospital, National Medical Center SXXI, Mexico City. All patients underwent gastrointestinal symptoms questionnaire, laboratory, cabinet, endoscopy and breath test for bacterial overgrowth. RESULTS: We evaluated 17 patients, 8 men and 9 women with an average age of 36 years with a definitive diagnosis of CVID according to international criteria; 59% had abdominal pain, 53% abdominal distension; only 3 patients (17.6%) reported constipation; 47% had chronic diarrhea, of which only 2 (11.8%) had rectal pushing. The diagnoses of gastrointestinal manifestations of this population were: 18% chronic diarrhea, celiac disease and bacterial overgrowth, 24% gastrointestinal functional disorder, 12% constipation and 6% dyspepsia. One patient (6%) had no gastrointestinal symptoms. CONCLUSIONS: Prevalence of gastrointestinal diseases in adult patients with common variable immunodeficiency was 94%. There was no gender predominance. It is therefore important that patients with CVID will conduct a study protocol that includes a complete medical history considering gastrointestinal symptoms and signs, in order to determine timely diagnosis and therapeutic approach.

Antecedentes: la incidencia de la inmunodeficiencia común variable (IDCV) es de 1 por cada 15,000 a 117,000 casos, sin predominio de género. La incidencia de manifestaciones gastrointestinales en estos pacientes es de 20 a 60% y pueden ser la primera y única manifestación clínica de IDCV. En México existe escasa información en relación con el tipo y frecuencia de alteraciones gastrointestinales que padecen los pacientes adultos con IDCV. Objetivo: determinar la prevalencia de alteraciones gastrointestinales en pacientes adultos con inmunodeficiencia común variable. Material y método: estudio descriptivo, observacional y transversal en el que participaron pacientes con inmunodeficiencia común variable de la Clínica de Inmunodeficiencias del Servicio de Alergia e Inmunología Clínica del Hospital de Especialidades, Centro Médico Nacional Siglo XXI. A todos los pacientes se les aplicó un cuestionario de síntomas gastrointestinales y se les realizaron estudios de laboratorio, gabinete, endoscopia y prueba de aliento para determinar sobrepoblación bacteriana. Resultados: evaluamos 17 pacientes, 8 hombres y 9 mujeres, con edad promedio de 36 años y diagnóstico definitivo de inmunodeficiencia común variable de acuerdo con criterios internacionales. El 59% refirió dolor abdominal, 53% distensión abdominal y 17.6% estreñimiento. El 47% tenía diarrea crónica, en dos de ellos (11.8%) acompañada de pujo rectal. Las enfermedades gastrointestinales de esta población fueron: 18% diarrea crónica, enfermedad celiaca y sobrepoblación bacteriana, 24% trastorno funcional digestivo, 12% estreñimiento, 6% dispepsia. Sólo un paciente (6%) no tenía síntomas gastrointestinales. Conclusión: la prevalencia de las enfermedades gastrointestinales en pacientes adultos con inmunodeficiencia común variable fue de 94%, sin predominio de género. Debido a la frecuencia de manifestaciones gastrointestinales, es importante realizar protocolos de estudio al respecto para iniciar de manera temprana su diagnóstico y tratamiento.