Development of undergraduate students' diagnostic accuracy for the classification of molar incisor hypomineralization.

INTRODUCTION: One of the major difficulties with respect to molar incisor hypomineralization (MIH) is its classification and differentiation from other enamel development defects (EDDs). The aim of this study was to evaluate diagnostic accuracy in dental students to classify MIH as well as its differentiation from other EDDs by combining conventional theoretical classes and e-learning-assisted pre-clinical practices. METHODS: In this one-group pre-test and post-test study, 59 second-year students assessed 115 validated photographs using the MIH Index on the Moodle learning platform. This index assesses the clinical features and extent of MIH, differentiating it from other EDDs. Students received automatic feedback after the pre-test. Two weeks later, students re-evaluated the same photographs. Both pairwise accuracy and overall diagnostic accuracy were estimated and compared for pre- and post-testing, with the area under the curve AUC, along with 95% confidence intervals (95% CI). RESULTS: The lowest diagnostic accuracy was for the ability to discriminate between white or cream-coloured demarcated opacities and hypomineralization-type defect that is not MIH. The overall pre-test accuracy was AUC = 0.83 and increased significantly post-test to AUC = 0.99 (p < .001). The overall accuracy to discriminate the extent of the lesion also increased significantly post-test (p < .001). CONCLUSION: Diagnostic skills to classify MIH can be developed by combining conventional theoretical classes and e-learning-assisted pre-clinical practices.

The role of health systems and policy in producing behavior and social change to enhance child survival and development in low- and middle-income countries: an examination of the evidence.

Evidence-based behavior change interventions addressing health systems must be identified and disseminated to improve child health outcomes. Studies of the efficacy of such interventions were identified from systematic searches of the published literature. Two hundred twenty-nine of the initially identified references were judged to be relevant and were further reviewed for the quality and strength of the evidence. Studies were eligible if an intervention addressed policy or health systems interventions, measured relevant behavioral or health outcomes (e.g., nutrition, childhood immunization, malaria prevention and treatment), used at least a moderate quality research design, and were implemented in low- or middle-income countries. Policy or systems interventions able to produce behavior change reviewed included media (e.g., mass media, social media), community mobilization, educational programs (for caregivers, communities, or providers), social marketing, opinion leadership, economic incentives (for both caregiver and provider), health systems strengthening/policy/legislation, and others. Recommendations for policy, practice, and research are given based on fairly strong data across the areas of health service delivery, health workforce, health financing, governance and leadership, and research.

[Teaching the legal aspects of medical practice to medical students in Puerto Rico]. / La enseñanza de los aspectos legales de la práctica médica a los estudiantes de medicina en Puerto Rico.

Challenges and changes facing modern medicine make it imperative that physicians acquire knowledge of the legal and regulatory framework of medical practice. Despite the importance of this issue, the curriculum in most medical schools do not include courses that offer medical students the necessary information about their legal duties to practice medicine. The trend should be to offer such courses in medical schools and medical residency programs.

Critical appraisal of the Colombian clinical practice guide for the prevention, diagnosis and treatment of suicidal ideation and/or behaviour (adoption).

INTRODUCTION: Suicide is a complex, global public health problem. The Colombian clinical practice guideline provides relevant input for its prevention, diagnosis and treatment. The objective was to evaluate the methodological quality, credibility and applicability of the Colombian clinical practice guideline for suicidal behaviour. METHODS: An academic group of 12 evaluators was established to assess the guide and its recommendations in a standardised way, using the AGREE-II and AGREE-REX instruments. The evaluations were given in the range of 0.0-1.0 with 0.7 as a cut-off point for appropriate quality. RESULTS: The global assessment of the AGREE-II was greater than 0.7 in the dimensions: "scope and objective" (0.86), "clarity of presentation" (0.89), "applicability" (0.73) and "editorial independence" (0.89). The lowest scores were for "participation of those involved" (0.67) and "rigour in preparation" (0.69). With the AGREE-REX, the results in all dimensions were below 0.70, which indicates lower quality and suitability for use. CONCLUSIONS: The adoption process of the Colombian guideline for suicidal behaviour was a rigorous methodological process, while the practice recommendations were valued as of low applicability due to low support in local evidence. It is necessary to strengthen the generation and synthesis of evidence at the national level to give greater support and applicability to the practice recommendations.

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.

Mutations in the lecithin-cholesterol acyltransferase (LCAT) gene, which catalyzes the esterification of cholesterol, result in two types of autosomal recessive disorders: Familial LCAT deficiency (FLD) and Fish Eye Disease (FED). While both phenotypes are characterized by corneal opacities and different forms of dyslipidemia, such as low levels of high-density lipoprotein-cholesterol (HDL-C), FLD exhibits more severe clinical manifestations like splenomegaly, anemia, and renal failure. We describe the first clinically and genetically confirmed case of FLD in Colombia which corresponds to a 46-year-old woman with corneal opacity, hypothyroidism, and dyslipidemia, who does not have any manifestations of renal failure, with two pathogenic heterozygous missense variants in the LCAT gene: LCAT (NM_000229.2):c.803G>A (p.Arg268His) and LCAT (NM_000229.2):c.368G>C (p.Arg123Pro). In silico analysis of the mutations predicted the physicochemical properties of the mutated protein, causing instability and potentially decreased LCAT function. These compound mutations highlight the clinical heterogeneity of the phenotypes associated with LCAT gene mutations.

Effect of Live and Fragmented Saccharomyces cerevisiae in the Feed of Pigs Challenged with Mycoplasma hyopneumoniae.

Currently, the responsible use of antimicrobials in pigs has allowed the continuous development of alternatives to these antimicrobials. In this study, we describe the impact of treatments with two probiotics, one based on live Saccharomyces cerevisiae (S. cerevisiae) and another based on fragmented S. cerevisiae (beta-glucans), that were administered to piglets at birth and at prechallenge with Mycoplasma hyopneumoniae. Thirty-two pigs were divided into four groups of eight animals each. The animals had free access to water and food. The groups were as follows: Group A, untreated negative control; Group B, inoculated by nebulization with M. hyopneumoniae positive control; Group C, first treated with disintegrated S. cerevisiae (disintegrated Sc) and inoculated by nebulization with M. hyopneumoniae; and Group D, treated with live S. cerevisiae yeast (live Sc) and inoculated by nebulization with M. hyopneumoniae. In a previous study, we found that on Days 1 and 21 of blood sampling, nine proinflammatory cytokines were secreted, and an increase in their secretion occurred for only five of them: TNF-α, INF-α, INF-γ, IL-10, and IL-12 p40. The results of the clinical evolution, the degree of pneumonic lesions, and the productive parameters of treated Groups C and D suggest that S. cerevisiae has an immunomodulatory effect in chronic proliferative M. hyopneumoniae pneumonia characterized by delayed hypersensitivity, which depends on the alteration or modulation of the respiratory immune response. The data presented in this study showed that S. cerevisiae contributed to the innate resistance of infected pigs.

"La Perla Del Mar": A Case Report on Subcutaneous Penile Implants.

The purpose of this report is to alert and inform the medical community about the presence and practice of subcutaneous penile implants (SPIs), which are used with the intent of increasing sexual pleasure. This case aspires to deflect plausible misconceptions in the specific populations who use the SPIs. This case study was performed in January 2023 at a tertiary care center in Miami, Florida. A 61-year-old Cuban male admitted for a routine hernia repair with an incidental finding of a benign SPI was interviewed and examined; an extended collection of historical information regarding the patient's penile implant was ascertained. The patient stated that there was a tradition among the men and adolescent individuals living along coastal cities/towns of Cuba such as Havana and Matanzas who would elect to have pieces of stones or gems or any solid objects shaped and molded into round objects that are used for the intent of increasing sexual pleasure. The patient referred to the implant as "La Perla Del Mar," which translates directly into "Pearl of the Sea." Upon visualization of the nodule on examination, a differential diagnosis may include infection (such as syphilis), granulomas, sarcoidosis, dermatofibroma, epithelial inclusion cyst, or malignancy. However, an appropriate workup informed us about the penile implant. Clinicians should employ caution in investigating a penile nodule by taking a detailed social and sexual history and physical exam from the patient if possible. This case and the literature review cited to bolster the notion of a lack of chronic symptoms due to the inserted objects. Several provocations for the implantation of an artificial penile nodule, in this case, maybe extrapolated, such as the desire for a prospective partner's pleasure/displeasure, group identification, or masculine embodiment. The main takeaways from this case report are the considerations that should be taken in the older Caribbean population for patients with the "Perla Del Mar" implantation and bolstering the notion of complete sexual education for clinicians regarding specific populations to enhance patient care.

Developing diagnostic skills from preclinical dental education: Caries detection and assessment using e-learning assisted practice.

PURPOSE: To evaluate the feasibility of developing visual diagnostic skills for detecting and assessing dental caries using e-learning assisted practice in preclinical dental education. METHODS: A one-group before and after the study was conducted. After a theoretical lesson on cariology, 53 inexperienced second-year preclinical students assessed 78 clinical photographs using the Nyvad criteria; they received automated feedback upon completion of the test. After a week, all students reassessed the same set of photographs, which were randomly reordered. Differential diagnostic accuracy was analyzed category-pairwise, and overall accuracy measures were based on the receiver operator curve. Diagnostic accuracy in both attempts was evaluated and compared through estimation and pooling of individual student accuracies. RESULTS: Pooled category-pairwise accuracy was lower for discriminating Sound surface from Non-cavitated-active caries, and for discriminating inactive caries (surface discontinuity) from intact surface inactive caries and Cavitated-active caries. Pooled overall accuracy, after the theoretical lesson, was 0.79 (95% confidence interval [CI] 0.77-0.81), and it increased to 0.99 (95% CI 0.98-0.99) after feedback. Between-student variability in accuracy was reduced from I2  = 0.66 to 0.55. CONCLUSION: E-learning assisted practice is a feasible alternative to start developing visual diagnostic skills for detecting and assessing dental caries using the Nyvad criteria from preclinical dental education in cariology. However, further studies are required to evaluate its effectiveness in improving real-world practice knowledge and skills.

Evaluation of roasting and storage conditions as a strategy to improve the sensory characteristics and shelf life of coffee.

Coffee is one of the most consumed products worldwide. Among the varieties of this product, specialty coffee is a type of coffee that has been growing in the world market. This paper aims to assess the effects that the conditions derived from coffee roasting at different altitude levels have on the quality of the product. It was discovered that processing coffee at a higher altitude level yielded a smaller increase in bitterness. This led to a better Specialty Coffee Association (SCA) score in cupping and, consequently, to better preservation of the coffee quality. The storage time affected the aroma by associating roaster aromas with older coffees. Although the assessed origins had the same NIR spectra, differences in peak intensity lead to variations in the flavor and aroma of the coffee. Furthermore, although green beans prolong quality allowing a SCA score of 84.73 ± 2.81 after 4 months of storage, roasted coffee at higher altitudes could also maintain the quality between production and consumption (SCA score of 80.22 ± 0.91 after 2 months). Finally, this research found that the instrumental equipment helped to find minor changes in the sensorial profile, and with these changes correlated with the sensorial panel, the best conditions to preserve coffee quality were found.

Public health issues related to HPV vaccination.

The human papillomavirus (HPV) is clearly established as the cause of cervical cancer, and vaccines targeting oncogenic forms of the virus are important as a primary method of prevention. However, barriers to cervical screening and vaccination such as a lack of knowledge of HPV, access to healthcare, and poor follow-up prevent the acceptance and utilization of HPV vaccines. Strategies for prevention of disease and implementation of vaccination are in development, but the importance of primary prevention of HPV infection needs to be stressed. This review assesses the potential impact of vaccination for cervical cancer, barriers to vaccination, and the methods used to increase coverage. With the advent of prophylactic vaccines, HPV, a common infection in the United States, can be prevented in most women.

World-Class Managers: a Pilot Tuning Project-based on Generic Competences.

INTRODUCTION: This research evaluates the generic competences of the managers that belong to the 20 World Class Sectors, according to the Productive Transformation Program in Colombia. METHOD: A survey applied to 280 managers seeks to evaluate the 27 generic competences of the Tuning Project, using descriptive statistics and exploratory factor analysis to measure three dimensions: motivation/commitment, self-efficacy and the competence's origin. RESULTS: The most necessary skills to boost the positioning of these companies in international markets are the weakest. The findings' relevance indicates that the managers' commitment and motivation is greater than the effectiveness in their performance; also, the findings emphasize the family education as one of the main sources of their competences.

INTRODUCCIÓN: Esta investigación evalúa las competencias genéricas de los gerentes que pertenecen a los 16 Sectores de Talla Mundial, según el Programa de Transformación Productiva en Colombia. MÉTODO: Una encuesta aplicada a 280 gerentes busca evaluar las 27 competencias del Proyecto Tuning, a través de técnicas de estadística descriptiva y análisis factorial exploratorio, para medir tres dimensiones: Motivación/compromiso, Auto-eficacia y el Origen de la competencia. RESULTADOS: Las competencias más necesarias para potencializar el posicionamiento de estas empresas en los mercados internacionales, son las más débiles. La relevancia de los hallazgos indica que es superior el compromiso y la motivación de los gerentes que la eficacia en su desempeño y se destaca, además, la formación familiar como una de las principales fuentes de sus competencias.

[Impact of interventions directed toward motorcyclist death prevention in Cali, Colombia: 1993-2001]. / Efectos de las intervenciones diseñadas para prevenir las muertes de motociclistas en Cali, Colombia (1993-2001).

OBJECTIVE: Describe the impact of interventions focused on decreasing deaths by motorcycle crash. MATERIAL AND METHODS: We analyzed variations in deaths by motorcycle crash in Cali when the interventions were implemented and the statistical significance of changes between 1993 and 2001. RESULTS: The rate of motorcyclist deaths per 100,000 inhabitants decreased from 9.7 in 1995 to 3.6 in 2001. The greatest reduction was observed after the introduction of the helmet law for motorcycle drivers in 1996 (12.3%). Other interventions-such as a helmet law for passengers, a reflective safety vest, a circulation ban for motorcyclists in December, and compulsory courses for all motorcyclists-produced a greater decrease in mortality; meanwhile, a lack of law enforcement increased it. CONCLUSIONS: The establishment and implementation of a combination of prevention strategies was more effective than a single or non-articulated strategy.

Efectividad del método cluster sobre la fuerza y la velocidad en jugadores de rugby / Effectiveness of the cluster method on strength and speed in rugby players / Eficácia do método de cluster na força e velocidade dos jogadores de râguebi

Objetivo: Determinar la efectividad del método clúster sobre la fuerza y la velocidad en jugadores de rugby. Metodología: 24 jugadores de rugby divididos en grupo experimental Ge (n=12 10H-2M) o de EFC y grupo control Gc (n=12 9H-3M) o de EFT. Resultados: El EFC mejoró la VMP y VMAX de todas las cargas, excepto Cmax (VMP Dif 0,01 ± 0,85 - VMAX Dif 0,03 ± 0,61). El EFT mejoró la VMP y VMAX del CP, siendo significativa la VMAX frente a CL (Dif 0,10 ± 0,02 - p < 0,05). El EFC mejoró la VMP frente a todas las cargas sin llegar a tener cambios significativos, hubo mejoras significativas de la VMAX para las CM (Dif 0,10 ± 0,02 - p < 0,05), no hubo cambios para las CA. El EFT mejoró significativamente la VMP frente a Cmax de la BS Cmax (Dif 0,06 ± 0,05 ­ p < 0,05), la VMAX frente a CM y CA no tuvieron mejoras y las que tuvieron mejoras no fueron significativas.

Objective: To determine the effectiveness of the cluster method on strength and speed in rugby players. Methodology: 24 rugby players divided into experimental group Ge (n=12 10H-2M) or OBE and control group Gc (n=12 9H-3M) or EFT. Results: The EFC improved VMP and VMAX of all loads, except Cmax (VMP Dif 0.01 ± 0.85 - VMAX Dif 0.03 ± 0.61). EFT improved MPV and VMAX of CP, with VMAX being significant vs. CL (Dif 0.10 ± 0.02 - p < 0.05). EFC improved MPV against all loads without significant changes, there were significant improvements of VMAX for CM (Diff 0.10 ± 0.02 - p < 0.05), there were no changes for AC. EFT significantly improved VMP vs. Cmax of BS Cmax (Diff 0.06 ± 0.05 - p < 0.05), VMAX vs. CM and CA had no improvements and those with improvements were not significant.

Objetivo: Determinar a eficácia do método de clusters na força e velocidade de jogadores de râguebi. Metodologia: 24 jogadores de rugby divididos em grupo experimental Ge (n=12 10H-2M) ou EFC e grupo de controlo Gc (n=12 9H-3M) ou EFT. Resultados: A EFC melhorou o VMP e o VMAX de todas as cargas exceto Cmax (VMP Dif 0,01 ± 0,85 - VMAX Dif 0,03 ± 0,61). A EFT melhorou o VMP e o VMPmax do PC, sendo o VMPmax significativo em relação ao CL (Dif 0,10 ± 0,02 - p < 0,05). A EFC melhorou o VMP contra todas as cargas sem alteração significativa, houve melhorias significativas no VMAX para CM (Diff 0,10 ± 0,02 - p < 0,05), não houve alteração para AC. O EFT melhorou significativamente o VMP vs Cmax para BS Cmax (Diff 0,06 ± 0,05 - p < 0,05), o VMAX vs CM e CA não tiveram melhorias e os que tiveram não tiveram melhorias significativas.

Apoptosis: Activation and Inhibition in Health and Disease.

There are many types of cell death, each involving multiple and complex molecular events. Cell death can occur accidentally when exposed to extreme physical, chemical, or mechanical conditions, or it can also be regulated, which involves a genetically coded complex machinery to carry out the process. Apoptosis is an example of the latter. Apoptotic cell death can be triggered through different intracellular signalling pathways that lead to morphological changes and eventually cell death. This is a normal and biological process carried out during maturation, remodelling, growth, and development in tissues. To maintain tissue homeostasis, regulatory, and inhibitory mechanisms must control apoptosis. Paradoxically, these same pathways are utilized during infection by distinct intracellular microorganisms to evade recognition by the immune system and therefore survive, reproduce and develop. In cancer, neoplastic cells inhibit apoptosis, thus allowing their survival and increasing their capability to invade different tissues and organs. The purpose of this work is to review the generalities of the molecular mechanisms and signalling pathways involved in apoptosis induction and inhibition. Additionally, we compile the current evidence of apoptosis modulation during cancer and Leishmania infection as a model of apoptosis regulation by an intracellular microorganism.

The impact of education and literacy levels on cancer screening among older Latin American and Caribbean adults.

BACKGROUND: There is limited information related to the effects of education and literacy on cancer screening practices among older adults in Latin American and Caribbean countries. METHODS: To determine the association between education and cancer screening use, we developed a cross-sectional study using data from the Health, Well-Being and Aging in Latin America and the Caribbean Study. The sample included 4,183 men and 6,708 women aged 60 years and older from seven cities. The outcomes are mammogram and Pap smear use in women and prostate examination use in men within the last 2 years. RESULTS: In general, illiterate or lower-educated older men and women have the lowest rates of cancer screening use compared with higher-educated counterparts. Multivariate logistic models, by city and in a combined sample of six cities showed that high education is associated with higher odds of having a mammogram or a Pap smear in women and a prostate examination in men. CONCLUSIONS: Older adults with low educational or literacy levels should be targeted for screening programs in these populations.

The reliability and validity of the Brief Sensation Seeking Scale (BSSS-8) with young adult Latino workers: implications for tobacco and alcohol disparity research.

AIM: This study investigated the reliability and validity of the Brief Sensation Seeking Scale (BSSS-8) in both English and Spanish with Latinos, the fastest-growing minority group in the United States, and the correlation between sensation seeking and tobacco and alcohol use. DESIGN: Cross-sectional survey, computer-assisted telephone interviews (CATI). SETTING: Dallas and Houston, Texas. PARTICIPANTS: A total of 789 Latinos participated in this study. Participants were currently in the work-force, not enrolled in college, and between the ages of 18 and 30 years. MEASUREMENTS: Participants completed a self-report questionnaire (in either English or Spanish) consisting of items measuring tobacco and alcohol use as well as the eight-item Brief Sensation Seeking Scale. FINDINGS AND CONCLUSIONS: For English-speaking Latino participants, the BSSS factor structure was second-order unidimensional and correlated positively with life-time cigarette use, intention to smoke in the future and amount and frequency of alcohol consumption. For Spanish-speaking Latino participants, a four-subfactor solution for the BSSS provided the best fit to the data although correlations between the four subscales and cigarette use were small.

Energy balance feasibility study for Latinas in Texas: a qualitative assessment.

INTRODUCTION: Obesity has reached epidemic levels, with nearly two-thirds of the U.S. population considered overweight or obese. Latinos have some of the highest rates of overweight, obesity, and sedentary lifestyle. Research from scientifically sound evidence-based interventions to reduce the disproportionate burden of obesity and its associated morbidity and mortality among Latinas is greatly needed. The purpose of this study was to assess knowledge, attitudes, and behaviors about nutrition and exercise among Latinas aged 40 years and older residing in a low-income community in Houston, Texas, and the applicability of an evidence-based church program to promote healthy energy balance. METHODS: Qualitative assessment was conducted through 10 focus groups with 75 women recruited through three Catholic churches, community groups, and leaders. RESULTS: Participants identified barriers and enabling factors to healthy nutrition and physical activity. Barriers included lack of awareness about nutrition and physical activity, cultural beliefs, and socioeconomic and environmental factors. Preferred strategies were group activities with direct guidance from qualified individuals and interpersonal contact among participants, social support with positive reinforcement for behavior change or maintenance, and a friendly environment for learning and achieving suitable goals. The church was considered a powerful resource to influence Latinas to improve their health, exercise, and nutrition practices. CONCLUSION: Our findings suggest that using the church environment to reach Latina women aged 40 years and older is a feasible and culturally appropriate strategy. The church environment provides a safe, comfortable, and familiar atmosphere for women and addresses specific cultural barriers and safety concerns of family members.

Social influences, and attitudes and beliefs associated with smoking among border Latino youth.

BACKGROUND: Adolescent smoking rates have declined among all ethnic groups since the late 1990s. However, despite the recent declines and intervention efforts, today smoking remains a serious problem among youth, with a quarter of adolescents being current smokers by the time they complete 12th grade. This problem is particularly prevalent among Latino youth, who have among the highest rates of lifetime and past-30-day use. The purpose of this study was to examine the association between psychosocial factors and the smoking behavior of Latino youth living along the Mexico-US border. METHODS: A convenient sample of 2471 middle and high school Latino students was surveyed in fall 2000. Logistic regression analysis was used to examine the association between study risk factors and youth smoking behavior. RESULTS: The strongest predictor of lifetime and past-30-day smoking was peer influence; however, the strength of the association was greater with recent use. There were also differences in the influence of family and attitudes and beliefs between the 2 groups. CONCLUSIONS: These differences need to be taken into consideration to guide development of tailored prevention and control interventions aimed at this specific group. These efforts should address social influences to smoke, particularly those from peers; promote changes in attitudes and beliefs toward smoking; increase understanding of the addictive nature of nicotine; and provide development of skills young people need to resist social and environmental pressures to smoke. Strict control and enforcement measures are needed to completely eliminate the sale of cigarettes to minors.

Paciente con diagnóstico de Wiskott Aldrich y presencia de una nueva mutación

RESUMEN Introducción: El síndrome de Wiskott-Aldrich, es una inmunodeficiencia primaria, poco frecuente heredada de forma recesiva ligado al cromosoma X. Está asociado a fenotipos clínicos variables que se correlacionan con el tipo de mutación presente en la proteína del síndrome de Wiskott-Aldrich. Objetivo: Examinar el caso de un paciente con diagnóstico de Wiskott Aldrich y presencia de una mutación no descrita anteriormente. Presentación del caso: Paciente masculino cuya sintomatología se inició a los tres meses de edad, con infecciones respiratorias recurrentes, lesiones purpúricas hemorrágicas tipo equimosis, eccema y plaquetopenia. El diagnóstico se confirmó al año de inicio de los síntomas con la detección de una mutación no descrita anteriormente, ubicada en el codón 88 de la proteína del síndrome de Wiskott-Aldrich (p. Y88X; c.264C > G), asociada a una variante clásica. Conclusiones: La identificación temprana, diagnóstico y estratificación del fenotipo, es esencial para reducir los eventos desfavorables y complicaciones de la afección. El estudio genético es el medio de confirmación diagnóstica definitivo para el síndrome, lo que permite aplicar el protocolo terapéutico más adecuado para este tipo de inmunodeficiencia.

ABSTRACT Introduction: Wiskott Aldrich syndrome is a primary immunodeficiency, rarely inherited in a recessive way and linked to the X chromosome. It is associated with variable clinical phenotypes that correlate with the type of mutation present in the Wiskott Aldrich syndrome protein. Objective: Examine the case of a patient diagnosed with Wiskott Aldrich and presence of a mutation not described above. Case presentation: Male patient whose symptoms began at three months of age, with recurrent respiratory infections, purpuric hemorrhagic lesions such as ecchymosis, eczema and platelettopenia. The diagnosis was confirmed one year of after the symptoms onset with the detection of a mutation not previously described, located in codon 88 of the Wiskott Aldrich syndrome protein (p. Y88X; c.264C>G), associated with a classical variant. Conclusions: Early identification, diagnosis and stratification of the phenotype is essential to reduce unfavorable events and complications of the condition. The genetic study is the mean of definitive diagnostic confirmation for the syndrome, which allows to apply the most appropriate therapeutic protocol for this type of immunodeficiency.