Construcción y validación de un cuestionario sobre actitudes hacia la higiene de manos / Construction and validation of a questionnaire on attitudes towards hand hygiene

INTRODUCCIÓN: La higiene de manos es la medida más eficaz para prevenir las infecciones asociadas al cuidado de la salud. Las actitudes hacia esta práctica tan sencilla, influyen en el grado de adherencia. OBJETIVO: Desarrollar y validar un instrumento para evaluar las actitudes hacia la higiene de manos en estudiantes de Licenciatura en Enfermería. MÉTODO: Se realizó un estudio observacional y de corte transversal. Una vez construido el instrumento se realizó la validez de contenido mediante el juicio de expertos. Para la validez de constructo se realizó análisis factorial exploratorio. Posteriormente se calculó la confiabilidad, que incluyó la consistencia interna y la estabilidad del cuestionario. RESULTADOS: Participaron 313 estudiantes de Licenciatura en Enfermería de ocho universidades de Argentina. Se calculó el Kaiser-Meyer-Olkin (KMO = 0,720) y se obtuvo una prueba de esfericidad de Bartlett significativa (x2 = 831,2; = 0,000). El análisis factorial exploratorio determinó la existencia de un único factor. El modelo explicó el 54% de la varianza. Se utilizó la implementación mejorada de la estimación Bayesiana EAP integrada en el programa FACTOR, que fue de 0,85 y se realizó test-retest utilizando análisis de correlación que arrojó un r = 0,64 (p ≤ 0,001). CONCLUSIONES: El cuestionario sobre actitudes hacia la higiene de manos (CAHM) presenta una adecuada validez y confiablidad, por lo que puede ser utilizado para indagar sobre este factor predisponente de adherencia hacia la higiene de manos.

BACKGROUND: Hand hygiene is the most effective measure to prevent health care-associated infections. Attitudes towards this simple practice influence the level of adherence. AIM: To develop and validate an instrument for the evaluation of attitudes towards hand hygiene in nursing students. METHOD: An observational and cross-sectional study was carried out. Once the instrument was constructed, content validity was carried out through expert judgment. For construct validity, exploratory factor analysis was performed. Subsequently, the analysis of construct validity and reliability was calculated, which included the internal consistency and stability of the questionnaire. RESULTS: 313 Nursing undergraduate students from 8 universities in Argentina participated. The Kaiser-Meyer-Olkin (KMO = 0.720) was calculated, and a significant Bartlett sphericity test was obtained (x2 = 831.2; = 0.000). The exploratory factor analysis determined the existence of a single factor. The model explained 54% of the variance. The improved implementation of the Bayesian EAP estimation integrated in the FACTOR program was used, which was 0.85; and test-retest was also performed using correlation analysis that yielded r = 0.64 (p ≤ 0.001). CONCLUSIONS: The Questionnaire on attitudes towards hand hygiene (CAHM) has adequate validity and reliability, so it can be used to investigate this predisposing factor of adherence to hand hygiene.

Risk Factors Associated with Intensive Care Admission in Children with Severe Acute Respiratory Syndrome Coronavirus 2-Related Multisystem Inflammatory Syndrome (MIS-C) in Latin America: A Multicenter Observational Study of the REKAMLATINA Network.

Background: Multisystem inflammatory syndrome in children (MIS-C) associated with coronavirus disease 2019 varies widely in its presentation and severity, with low mortality in high-income countries. In this study in 16 Latin American countries, we sought to characterize patients with MIS-C in the pediatric intensive care unit (PICU) compared with those hospitalized on the general wards and analyze the factors associated with severity, outcomes, and treatment received. Study Design: An observational ambispective cohort study was conducted including children 1 month to 18 years old in 84 hospitals from the REKAMLATINA network from January 2020 to June 2022. Results: A total of 1239 children with MIS-C were included. The median age was 6.5 years (IQR 2.5-10.1). Eighty-four percent (1043/1239) were previously healthy. Forty-eight percent (590/1239) were admitted to the PICU. These patients had more myocardial dysfunction (20% vs 4%; P < 0.01) with no difference in the frequency of coronary abnormalities (P = 0.77) when compared to general ward subjects. Of the children in the PICU, 83.4% (494/589) required vasoactive drugs, and 43.4% (256/589) invasive mechanical ventilation, due to respiratory failure and pneumonia (57% vs 32%; P = 0.01). On multivariate analysis, the factors associated with the need for PICU transfer were age over 6 years (aOR 1.76 95% CI 1.25-2.49), shock (aOR 7.06 95% CI 5.14-9.80), seizures (aOR 2.44 95% CI 1.14-5.36), thrombocytopenia (aOR 2.43 95% CI 1.77-3.34), elevated C-reactive protein (aOR 1.89 95% CI 1.29-2.79), and chest x-ray abnormalities (aOR 2.29 95% CI 1.67-3.13). The overall mortality was 4.8%. Conclusions: Children with MIS-C who have the highest risk of being admitted to a PICU in Latin American countries are those over age six, with shock, seizures, a more robust inflammatory response, and chest x-ray abnormalities. The mortality rate is five times greater when compared with high-income countries, despite a high proportion of patients receiving adequate treatment.

Heterozygous desmoplakin (DSP) variants presenting with early onset cardiomyopathy and refractory ventricular tachycardia.

Arrhythmogenic cardiomyopathy is a non-ischaemic cardiomyopathy characterised by the presence of myocardial dysfunction and inherited conduction disease that predisposes patients to malignant ventricular arrhythmias and sudden cardiac death. There is a growing awareness of the diverse phenotypic presentation of arrhythmogenic cardiomyopathy, which may demonstrate preferential involvement of the left, right or both ventricles. A subset of arrhythmogenic cardiomyopathy may be due to mutations of desmosomes, intercellular junctions of the myocardium that promote structural and electrical integrity. Mutations of desmoplakin, encoded by the DSP gene and a critical constituent protein of desmosomes, have been implicated in the onset of arrhythmogenic cardiomyopathy. We present a structured case report of desmoplakin arrhythmogenic cardiomyopathy secondary to novel heterozygous DSP mutations (c.1061T>C and c.795G>C) manifesting as early onset non-ischaemic cardiomyopathy and recurrent ventricular tachycardia refractory to multiple modalities of therapy, including oral antiarrhythmics, cardiac ablation and bilateral sympathectomy, as well as frequent implantable cardioverter-defibrillator discharges.

[Kawasaki disease and multisystem inflammatory syndrome in children. Differences, and similarities in a pediatric center in Mexico]. / Enfermedad de Kawasaki y síndrome inflamatorio multisistémico en niños. Diferencias y similitudes en un centro pediátrico de México.

OBJECTIVE: To evaluate the differences and similarities in clinical picture, laboratory findings and outcomes between children's with Kawasaki Disease (KD) versus multisystem inflammatory syndrome (MIS-C). METHODS: We conducted a retrospective, comparative study from children with Kawasaki Disease (KD) hospi-talized in Sinaloa Pediatric Hospital from January 1, 2004, to March 31, 2020, and patients with multisystem inflammatory syndrome (MIS-C) according with World Health Organization (WHO) case definition criteria be-tween May 1, 2020 and May 31, 2021. Demographic characteristics, epidemiological data, clinical features, laboratory findings, type of treatment and clinical outcomes were compared among both groups. RESULTS: Eighty-one patients were included (62 patients with KD and 19 with MIS-C). several clinical and lab-oratory differences were found among these two entities. Median age was lower in KD vs. MIS-C (25 vs 79 months). Those finding more frequent in KD were male gender (64.5 vs. 47.4%), Mucocutaneous features (93.5 vs. 63.2%): Oral changes (83.9 vs. 63.2%) and extremity changes (77.4 vs. 57.9%); complete form of KD was (75.8 vs. 47.4%), Coronary artery aneurysm (16.1 vs. 11.8%). Secondly, findings that were more frequent in MIS-C than KD were Gastrointestinal involvement (89.4 vs. 9.6%), shock (57.9 vs. 3.2%), neurological symp-toms (63.1 vs. 11.2%), kidney involvement (52.6 vs. 16.1%), heart disease in general (52.9% vs 29%): Myocardial dysfunction (23.5 vs. 11.3%) and pericardial effusion (17.6 vs. 2.9%). Lymphocyte count (2.07 + 2.03 vs. 4.28 + 3.01/mm3), platelet count (197.89 + 187.51 vs. 420.37 + 200.08/mm3); serum albumin (2.29 + 0.65 vs. 3.33 + 0.06g/dL), and CPR (21.4 + 11.23 vs. 14.26 + 12.37 mg/dL). KD vs. MIS-C types of Treatment: IVIG (96.8 vs. 94.7%), systemic steroids (4.82 vs. 94.7%), IVIG resistance (19.4 vs. 15.8). Finally, mortality in KD was 0% and 5.3% in MIS-C. CONCLUSIONS: Similarities were found in both groups such as fever, rash, and conjunctivitis. Nevertheless, signifi-cant differences such as severity of clinical presentation with multi-organ involvement and worst inflammato-ry response were found more frequently in MIS-C group than KD group, requiring more fluid replacement, use of inotropic agents and higher steroids dosages. Also, mortality rate was higher in patients with MIS-C thanpatients with KD. Similar results have been observed in other studies where both disorders were compared.

OBJECTIVO: Evaluar las diferencias y similitudes en el cuadro clínico, los hallazgos de laboratorio y desenlaces médicos de pacientes pediátricos con enfermedad de Kawasaki versus síndrome inflamatorio multisistémico. MÉTODOS: Estudio comparativo y retrospectivo, efectuado en niños con enfermedad de Kawasaki, atendidos en el Hospital Pediátrico de Sinaloa, entre el 1 de enero de 2004 al 31 de marzo de 2020, y pacientes con sín-drome inflamatorio multisistémico (según los criterios de la Organización Mundial de la Salud), del 1 de mayo de 2020 al 31 de mayo de 2021. Se evaluaron las características demográficas, epidemiológicos y clínicas, además de los hallazgos de laboratorio, tipo de tratamiento y desenlaces clínicos en ambos grupos. RESULTADOS: Se incluyeron 81 pacientes: 62 con enfermedad de Kawasaki y 19 con síndrome inflamatorio mul-tisistémico. Se encontraron varias diferencias clínicas y de laboratorio en ambas alteraciones. La mediana de edad fue menor en pacientes con enfermedad de Kawasaki versus síndrome inflamatorio multisistémico (25 vs 79 meses). La mayoría de los pacientes con enfermedad de Kawasaki fueron hombres (64.5 vs 47.4%), con características mucocutáneas (93.5 vs 63.2%): cambios orales (83.9 vs 63.2%) y cambios en las extremidades (77.4 vs 57.9%); la forma completa de enfermedad de Kawasaki fue 75.8 vs 47.4%, concomitante con aneuris-ma de la arteria coronaria (16.1 vs 11.8%). Los hallazgos más frecuentes en sujetos con síndrome inflamatorio multisistémico fueron: afectación gastrointestinal (89.4 vs 9.6 %), choque (57.9 vs 3.2%), síntomas neurológicos (63.1 vs 11.2%), afectación renal (52.6 vs 16.1%) y cardiopatías en general (52.9 vs 29%): disfunción miocárdica (23.5 vs 11.3%) y derrame pericárdico (17.6 vs 2.9%). La concentración media de linfocitos fue: 2.07 + 2.03 vs4.28 + 3.01/mm3), plaquetas (197.89 + 187.51 vs 420.37 + 200.08/mm3); albúmina sérica (2.29 + 0.65 vs 3.33 + 0.06 g/dL) y PCR (21.4 + 11.23 vs 14.26 + 12.37 mg/dL). Los tratamientos en enfermedad de Kawasaki vssíndrome inflamatorio multisistémico: IVIG (96.8 vs 94.7%), corticosteroides sistémicos (4.82 vs 94.7%), resis-tencia a IVIG (19.4 vs 15.8). La mortalidad fue de 0 vs 5.3%. CONCLUSIONES: Se encontraron similitudes en cuanto a síntomas en ambos grupos (fiebre, exantema y conjun-tivitis); no obstante, hubo diferencias significativas respecto de las manifestaciones clínicas, con afección multiorgánico y peor respuesta inflamatoria en pacientes con síndrome inflamatorio multisistémico, incluso mayor requerimiento de reposición de líquidos, administración de agentes inotrópicos, dosis más altas de corticosteroides, y elevada tasa de mortalidad. Estos resultados se han observado en otros estudios, donde se compararon ambos trastornos.

Unsupervised SoftOtsuNet Augmentation for Clinical Dermatology Image Classifiers.

Data Augmentation is a crucial tool in the Machine Learning (ML) toolbox because it can extract novel, useful training images from an existing dataset, thereby improving accuracy and reducing overfitting in a Deep Neural Network (DNNs). However, clinical dermatology images often contain irrelevant background information,such as furniture and objects in the frame. DNNs make use of that information when optimizing the loss function. Data augmentation methods that preserve this information risk creating biases in the DNN's understanding (for example, that objects in a particular doctor's office are a clue that the patient has cutaneous T-cell lymphoma). Creating a supervised foreground/background segmentation algorithm for clinical dermatology images that removes this irrelevant information would be prohibitively expensive due to labeling costs. To that end, we propose a novel unsupervised DNN that dynamically masks out image information based on a combination of a differentiable adaptation of Otsu's Method and CutOut augmentation. SoftOtsuNet augmentation outperforms all other evaluated augmentation methods on the Fitzpatrick17k dataset (0.75% improvement), Diverse Dermatology Images dataset (1.76% improvement), and our proprietary dataset (0.92% improvement). SoftOtsuNet is only required at training time, meaning inference costs are unchanged from the baseline. This further suggests that even large data-driven models can still benefit from human-engineered unsupervised loss functions.

CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.

Biosensors based on zinc oxide thin-film transistors using recyclable plastic substrates as an alternative for real-time pathogen detection.

The fabrication of biosensors has different future applications mainly from the perspective of eco-friendly technologies. Label-free strategies, recyclable materials and low-temperature processing are parameters to consider for the development of a new generation of biosensor devices. In this work, Zinc oxide (ZnO) Thin-film Transistors (TFTs) using recyclable plastic substrates were used for real-time enteropathogenic Escherichia coli detection as an approach for biosensing (bio-TFTs). Fourier Transform Infrared Spectroscopy was used to verify the characteristic absorption peaks at the different steps of the bio-TFT assembly process. The bio-TFTs are ready to observe the bacterial detection by electrical characterization. Finally, detection was validated by a coupled strategy that fuses the genomic DNA extraction from bacteria attached in situ over bio-TFTs surface and, the development of the Polymerase Chain Reaction to amplify specific genes from enteropathogenic Escherichia coli.

[Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia. A case report]. / Candidiasis mucocutánea crónica asociada con autoinmunidad y displasia ectodérmica. Informe de casos.

INTRODUCTION: Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia is an inborn error of immunity, characterized by a classic triad (chronic mucocutaneous candidiasis, hyperparathyroidism, and adrenal insufficiency) due to the presence of autoantibodies against different endocrine and non-endocrine organs; and it is predominant in Jews and Finns. CASE REPORT: A 7-year-old girl of European descent and positive consanguinity, with a personal history of recurrent respiratory infections, chronic candidiasis, pseudomembranous colitis, and pancytopenia. The clinical findings raised suspicions of an inborn error of immunity, and the accurate diagnosis of APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) was made by detecting a pathogenic variant in the AIRE gene through new- generation sequencing technologies. CONCLUSION: Nowadays, there is access to new genetic tools to establish an early diagnosis of the different inborn errors of immunity; thus, offering timely treatment and a better prognosis.

Introducción: La candidiasis mucocutánea crónica asociada a autoinmunidad y displasia ectodérmica es un error innato de la inmunidad, caracterizado por una triada clásica (candidiasis mucocutánea crónica, hipoparatiroidismo e insuficiencia suprarrenal) debido a la presencia de autoanticuerpos contra diferentes órganos endocrinos y no endocrinos; predomina en judíos y finlandeses. Reporte de caso: Mujer de 7 años de edad de ascendencia europea y consanguinidad positiva, con historia personal de infecciones respiratorias de repetición, candidiasis crónica, colitis pseudomembranosa y pancitopenia. Los hallazgos clínicos hicieron sospechar de un error innato de la inmunidad y el diagnóstico preciso de APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) se realizó al detectar una variante patogénica en el gen AIRE, a través de tecnologías de secuenciación de nueva generación. Conclusión: Hoy en día, se tiene acceso a nuevas herramientas genéticas para establecer el diagnóstico temprano de los diferentes errores innatos de la inmunidad, así se puede ofrecer un tratamiento oportuno y un mejor pronóstico.

Endometrial microbiota is more diverse in people with endometriosis than symptomatic controls.

Endometriosis is a chronic, estrogen-dependent gynecological condition affecting approximately 10% of reproductive age women. The most widely accepted theory of its etiology includes retrograde menstruation. Recent reports suggest the uterus is not sterile. Thus, the refluxed menstrual effluent may carry bacteria, and contribute to inflammation, the establishment and growth of endometriotic lesions. Here, we compared and contrasted uterine bacteria (endometrial microbiota) in people with surgically confirmed presence (N = 12) or absence of endometriosis (N = 9) using next-generation 16S rRNA gene sequencing. We obtained an average of > 9000 sequence reads per endometrial biopsy, and found the endometrial microbiota of people with endometriosis was more diverse (greater Shannon Diversity Index and proportion of 'Other' taxa) than symptomatic controls (with pelvic pain, surgically confirmed absence of endometriosis; diagnosed with other benign gynecological conditions). The relative abundance of bacterial taxa enriched in the endometrial microbiota of people with endometriosis belonged to the Actinobacteria phylum (Gram-positive), Oxalobacteraceae (Gram-negative) and Streptococcaceae (Gram-positive) families, and Tepidimonas (Gram-negative) genus, while those enriched in the symptomatic controls belonged to the Burkholderiaceae (Gram-negative) family, and Ralstonia (Gram-negative) genus. Taken together, results suggest the endometrial microbiota is perturbed in people with endometriosis.

Daily running trials increase sprint speed in endangered lizards (Gallotia simonyi).

Due to increasing number of animal species in danger of extinction, captive breeding of individuals has become a necessary procedure for many recovery programs. As specimens born and raised in captivity during several generations may not develop some behavioral and performance aptitudes properly, several types of training are useful to apply before releasing them into the wild. We present here the results of experiments aiming to detect the effect of daily running trials in young males of the endangered lizard (Gallotia simonyi) from El Hierro (Canary Islands). We made individuals run in a racetrack twice every day, for five days a week between the end of July and the end of September. We filmed all running trials and calculated running speed for each individual dividing the distance run by the time used. Running speed did not correlate with body condition of the lizards but there was variation in running speeds of some individuals with similar body conditions. Running speed of lizards used in the experiments significantly increased along the whole trial period. By contrast, mean running speed did not change significantly in a control group, participating twice in running trials, one at the beginning and the other at the end of the experimental period. From these results we suggest that locomotor training contributed to increasing final running speeds of experimental lizards.

A Case Report of Guillain-Barre Syndrome in an Eleven-Month Infant.

Guillain-Barre syndrome (GBS) is an acute immune-mediated progressive predominantly motor symmetric polyradiculoneuropathy which causes demyelination and leads to weakness, ataxia and areflexia. There are a variety of forms of the syndrome; and despite being the most common cause of acute flaccid paralysis in children, it has a low incidence under 18 years old, and it is even rarer in children less than 2 years of age. Very few cases have been reported under 12 months of age. We describe a case of an 11-month-old male infant presenting with weakness and inability to ambulate who was diagnosed with GBS.

[Giant coronary aneurysms in infant with Kawasaki disease shock syndrome]. / Aneurismas coronarios gigantes en lactante con síndrome de choque por enfermedad de Kawasaki.

BACKGROUND: Kawasaki disease shock syndrome is a rare presentation of Kawasaki disease, in which cardiovascular manifestations associated with elevated inflammation biomarkers that develop hypotension are observed. It is preceded by gastrointestinal and neurological manifestations, with an increased risk of coronary lesions and resistance to intravenous immunoglobulin. CASE REPORT: A 5-month-old male patient with a fever that had developed in the last week, gastrointestinal and neurological symptoms with hypotensive shock, urticarial rash, BCG lymphadenitis, and edema of palms and soles. Giant coronary aneurysms were evident, so Kawasaki disease shock syndrome was diagnosed, which was treated with corticosteroid pulse and intravenous immunoglobulin. CONCLUSIONS: Clinicians must suspect Kawasaki disease shock syndrome when there is hypotensive shock, and the gastrointestinal, neurological and mucocutaneous symptoms that are characteristic of the disease, especially in infants under one year of age. The timely treatment of this disease reduces severe complications.

Antecedentes: El síndrome de choque es una presentación poco habitual de la enfermedad de Kawasaki en el que se observan manifestaciones cardiovasculares asociadas con niveles elevados de marcadores de inflamación, que llevan a hipotensión. Es precedido por manifestaciones gastrointestinales y neurológicas y existe mayor riesgo de lesiones coronarias y resistencia a inmunoglobulina intravenosa. Caso clínico: Varón de cinco meses de edad con fiebre de una semana de evolución, síntomas gastrointestinales y neurológicos con choque hipotensivo, erupciones urticariforme, linfadenitis por vacunación con bacilo de Calmette-Guérin, así como edema de manos y pies. Se evidenciaron aneurismas coronarios gigantes, por lo que se diagnosticó síndrome de choque por enfermedad de Kawasaki, el cual fue tratado con pulso de corticoesteroide e inmunoglobulina intravenosa. Conclusiones: El diagnóstico de síndrome de choque por enfermedad de Kawasaki se debe sospechar por choque hipotensivo, síntomas gastrointestinales, neurológicos y mucocutáneos propios de la enfermedad, especialmente en menores de un año. El tratamiento oportuno reduce las complicaciones graves.

[Aortic aneurysm in a patient with Wiskott-Aldrich syndrome]. / Aneurisma aórtico en un paciente con síndrome de Wiskott-Aldrich.

BACKGROUND: The Wiskott-Aldrich syndrome is a combined immunodeficiency associated with a syndrome linked to the X chromosome, which is characterized by eczema, recurrent infections, and thrombocytopenia. Other manifestations include autoimmune disorders such as hemolytic anemia or thrombocytopenic purpura mediated by the immune system, increased susceptibility to malignant tumors, including lymphoma or leukemia. CLINICAL CASE: A 7-year-old male patient with a diagnosis of Wiskott-Aldrich syndrome who was treated with intravenous gamma globulin, antimicrobial prophylaxis with trimethoprim/sulfamethoxazole, and fluconazole, as well as with prednisone and cyclosporine due to hemolytic anemia and uveitis. Suddenly, he presented a deviation of the left labial commissure, so he was hospitalized. The studies showed a giant aneurysm of the aorta root, ascending aorta, descending aorta, and right coronary aorta, with insidious cardiac symptoms; therefore, he was referred to the vascular surgery department. CONCLUSION: Vasculitis in Wiskott-Aldrich syndrome is rare and it is usually asymptomatic in early stages, so an annual cardiovascular evaluation should be performed in order to avoid the complications of an aneurysm, which can be deleterious in this type of immunodeficiency where the possibility of death from bleeding is high.

Antecedentes: El síndrome de Wiskott-Aldrich es una inmunodeficiencia combinada asociada al síndrome ligado al cromosoma X, que se caracteriza por eccema, infecciones de repetición y trombocitopenia. Otras manifestaciones son los trastornos autoinmunes como anemia hemolítica o púrpura trombocitopénica mediada por el sistema inmunológico y susceptibilidad incrementada a tumores malignos, como linfoma o leucemia. Caso clínico: Niño de siete años, con diagnóstico de síndrome de Wiskott-Aldrich, en quien se estableció tratamiento con gammaglobulina intravenosa, profilaxis antimicrobiana con trimetoprima-sulfametoxazol y fluconazol, así como prednisona y ciclosporina debido a anemia hemolítica y uveítis. De forma súbita presentó desviación de la comisura labial izquierda, por lo que fue hospitalizado. Los estudios indicaron aneurisma gigante de la raíz de la aorta, aorta ascendente, descendente y coronaria derecha, con sintomatología cardiaca insidiosa, por lo que fue referido al servicio de cirugía vascular. Conclusiones: La vasculitis en el síndrome de Wiskott Aldrich es poco común y suele ser asintomática en las fases iniciales, por ello debe realizarse evaluación cardiovascular anual para evitar complicaciones propias de un aneurisma, que pueden ser deletéreas en este tipo de inmunodeficiencia, en las cuales existe mayor riesgo de muerte por sangrado.

A Teenager With Rash and Fever: Juvenile Systemic Lupus Erythematosus or Kawasaki Disease?

Rationale: Kawasaki disease (KD) is an acute vasculitis of small and medium vessels; whereas systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease. Their presentation is varied and not always straightforward, leading to misdiagnosis. There have been case reports of lupus onset mimicking KD and KD presenting as lupus-like. Coexistence of both diseases is also possible. Patient concerns: We present three adolescents, one with fever, rash, arthritis, nephritis, lymphopenia, and coronary aneurysms, a second patient with rash, fever, aseptic meningitis, and seizures, and a third patient with fever, rash, and pleural effusion. Diagnoses: The first patient was finally diagnosed with SLE and KD, the second patient initially diagnosed as KD but eventually SLE and the third patient was diagnosed at onset as lupus but finally diagnosed as KD. Interventions: The first patient was treated with IVIG, corticosteroids, aspirin, coumadin and mycophenolate mofetil. The second patient was treated with IVIG, corticosteroids and methotrexate and the third patient with IVIG, aspirin and corticosteroids. Lessons: Both diseases may mimic each other's clinical presentation. KD in adolescence presents with atypical signs, incomplete presentation, and develop coronary complications more commonly. An adolescent with fever and rash should include KD and SLE in the differential diagnosis.

Multisystemic Inflammatory Syndrome in Children Associated With SARS-CoV-2 Infection: A Case Series Report in a Pediatric Center in Mexico.

We report four cases of patients with multisystem inflammatory syndrome in children (MIS-C) associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, of which three patients presented characteristics of Kawasaki disease (KD). All presented fever of more than 3 days, and gastrointestinal involvement, significant increase in C-reactive protein (CRP), polymorphonuclear cells, procalcitonin, D-dimer, fibrinogen and troponin, lymphopenia and hypoalbuminemia. Myocardial involvement was observed in two patients. All were treated with fluids resuscitation and vasoactive therapy, 75% received intravenous immunoglobulin (IVIG) and systemic steroids. Two patients developed a transient acute kidney injury, one patient presented as acute appendicitis and developed a bilateral pleural effusion. One patient required a second dose of IVIG and boluses of methylprednisolone. None required mechanical ventilation and there were no deaths.

Acute Lymphoblastic Leukemia Following Incomplete Kawasaki Disease.

Kawasaki disease (KD) is a multisystemic vasculitis of unknown etiology, typically affecting children younger than 5 years of age. A direct relationship between KD and the development of malignant tumors has not been demonstrated, however, the immunological alterations of KD could be associated with its development. An 11-month-old male was diagnosed with incomplete KD. No coronary abnormalities were detected. He was treated with intravenous immunoglobulin (IVIG) and aspirin. Four weeks later, he developed fever, otitis media, bullous pharyngitis, irritability, anemia and hyperleukocytosis, and neutropenia. Blasts forms were observed in peripheral blood. Bone marrow smear demonstrated acute lymphoblastic leukemia (ALL). KD has diverse clinical presentations, atypical manifestations, and several complications such as macrophage activation syndrome. As our case highlights, lymphoid neoplasms may follow KD.

[Registry of Inborn errors of immunity in a pediatric hospital]. / Registro de errores innatos de la inmunidad en un hospital pediátrico.

In 2017, the Pediatric Hospital of Sinaloa (PHS) began its affiliation to the registry of patients with primary immunodeficiency or inborn errors of immunity (IEI) on the platform of the Latin American Society for Immunodeficiencies (LASID). During this period, twelve cases with IEI have been diagnosed and treated at the hospital. The age category at the time of diagnosis varied from two days to sixteen years old, and the range of the onset of the symptoms varied from nineteen days to four years, with a predominance of males (67%). The most frequent IEI was predominantly antibody deficiency (33.3%), followed by defects in the number or function of phagocytes (16.6%), autoinflammatory disorders (16.6%), immunodeficiencies that affect cellular and humoral immunity (16.6%), combined immunodeficiencies associated with syndromic findings (8.3%), and defects in intrinsic and inborn immunity (8.3%). 84% of patients received intravenous immunoglobulin and, in one case of a patient with Wiskott-Aldrich syndrome, a pathogenic variant in the WAS gene was identified; a patient received hematopoietic stem cell transplantation, 33.3% of patients died, of which 25% died of sepsis and 8.3% died of massive hemorrhage. The registry of IEI provides information about epidemiological data, incidences, prevalence, diagnoses, and treatments, which will favor the development of new health policies for obtaining resources and tools to improve the care models.

El Hospital Pediátrico de Sinaloa (HPS) inició el registro de pacientes con inmunodeficiencia primaria o error innato de la inmunidad (EII) en la plataforma de la Sociedad Latinoamericana de Inmunodeficiencias Primarias (LASID) desde 2017. Durante ese periodo se han diagnosticado y tratado 12 casos en el hospital. El rango de edad al momento del diagnóstico fue de dos días a 16 años y el rango de inicio de los síntomas de 19 días a cuatro años, con predominio del sexo masculino (67 %). El EII más frecuente fue la deficiencia predominantemente de anticuerpos (33.3 %), seguida de defectos en fagocitos en número o función (16.6 %), desórdenes autoinflamatorios (16.6 %), inmunodeficiencias que afectan la inmunidad celular y humoral (16.6 %), inmunodeficiencias combinadas asociadas con los hallazgos sindromáticos (8.3 %) y defectos en la inmunidad intrínseca e innata (8.3 %). El 84 % recibió inmunoglobulina intravenosa; se identificó la variante patogénica en el gen WAS en un caso con síndrome de Wiskott-Aldrich; un paciente recibió trasplante de células progenitoras hematopoyética; 33.3 % falleció, 25 % por sepsis y 8.3 % por hemorragia masiva. El registro de las EII permite conocer datos epidemiológicos, incidencia, prevalencia, diagnósticos y tratamientos, lo que favorecerá al desarrollo de nuevas políticas sanitarias para la obtención de recursos y herramientas para mejorar los modelos de atención.