Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.

Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0)  and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

Consenso colombiano de la enfermedad inflamatoria intestinal pediátrica

está disponible en el texto completo

Introduction: Pediatric ulcerative colitis (CUP), pediatric Crohn's disease (PCD), and pediatric inflammatory bowel disease not classifiable (PIDNCID) have clinical and psychosocial particularities that differentiate them from those of adults and may condition different therapeutic approaches due to possible nutritional, growth and developmental repercussions, representing a challenge for the pediatrician and gastroenterologist. Objective: Develop expert consensus evidence-based recommendations for the timely and safe diagnosis and treatment of Pediatric Inflammatory Bowel Disease (PID) in children under 18 years of age for professionals caring for these patients and healthcare payers. Methodology: Through a panel of experts from the Colombian College of Pediatric Gastroenterology, Hepatology and Nutrition (COLGAHNP) and a multidisciplinary group, 35 questions were asked regarding the clinical picture, diagnosis, and treatment of PID. Through a critical review and analysis of the literature with particular emphasis on the main clinical practice guidelines (CPGs), randomized clinical trials (RCTs), and meta-analyses of the last ten years, from which the experts made 77 recommendations that responded to each of the research questions with their respective practical points. Subsequently, each of the statements was voted on within the developer group, including the statements that achieved > 80%. Results: All statements scored > 80%. PID has greater extension, severity, and evolution towards stenosis, perianal disease, extraintestinal manifestations, and growth retardation compared to adult patients, so its management should be performed by multidisciplinary groups led by pediatric gastroenterologists and prepare them for a transition to adulthood. Porto's criteria allow a practical classification of PID. In CPE, we should use the Paris classification and perform ileocolonoscopy and esophagogastroduodenoscopy, since 50% have upper involvement, using the SES-CD (UCEIS/Mayo in CUP) and taking multiple biopsies. Initial labs should include inflammatory markers and fecal calprotectin and rule out intestinal infections. Treatment, induction, and maintenance of PID should be individualized and decided according to risk stratification. Follow-up should use PCDAI and PUCAI for the last 48 hours. Immunologists and geneticists should evaluate patients with early and infantile PID. Conclusion: A consensus guideline is provided with evidence-based recommendations on timely and safe diagnosis and treatments in patients with ILD.

[Skin and SARS-CoV-2 in pediatrics]. / Piel y SARS-CoV-2 en pediatría.

The clinical presentation, disease course, and outcome of SARS-CoV-2 infection in pediatrics differ from the presentation in adults. In a review by Hoang et al., the prevalence of dermatological manifestations was estimated in 0.25% of a total of 2,445 children with confirmed COVID-19. Similarly, the prevalence of skin manifestations was reported in 3% of 100 children in the Parri's study. A systematic review by Shah et al. analyzed 13 studies with 149 children who met eligibility criteria. The acral erythematous maculopapular lesion was the most common, as well as erythema multiforme, varicella rash, and presentations similar to Kawasaki disease. The duration of the skin lesion was one to two weeks in 43%. Skin biopsy of 18 cases complete superficial and deep perivascular and paracrine lymphocytic infiltrate and lymphocytic vasculitis were reported. RT-PCR was positive in 13.8 % of the cases. The serological markers of herpes simplex virus and parvovirus B19 analyzed were negative, except for Mycoplasma pneumoniae in two of 20 cases. The pathophysiological mechanism of skin lesions secondary to SARS-CoV-2 infection has not yet been explained; likely to be a combination of one or more complex mechanisms, direct skin damages induced by the virus, vasculitis-like reactions either indirect or secondary injuries as a consequence of a systemic inflammatory reaction. Publications from years 2019 to 2021 are reviewed in PubMed as the main search source, using key words.

La presentación clínica, curso de la enfermedad y resultado de la infección por SARS-CoV-2 en pediatría difieren de los observados en adultos. En una revisión de Hoang et al. se estimó que la prevalencia de las manifestaciones dermatológicas fue de 0.25 % de un total de 2445 niños con COVID-19 confirmada. Según Parri, se documentó 3 % en 100 niños. En la revisión sistemática de Shah et al.se analizaron 13 estudios que incluyeron 149 niños que cumplieron con los criterios de elegibilidad. La lesión maculopapular eritematosa acral fue la más común, también el eritema multiforme, el exantema de la varicela y las presentaciones similares a enfermedad de Kawasaki. La duración de las lesiones cutáneas fue de una a dos semanas en 43 %. La biopsia de piel de 18 casos reveló infiltrado linfocítico perivascular, infiltrado paracrino superficial y profundo y vasculitis linfocítica. La RT-PCR fue positiva en 13.8 %. Los marcadores serológicos analizados de virus de herpes simple y parvovirus B19 fueron negativos, y fueron positivos para Mycoplasma pneumoniae en dos de 20 casos. El mecanismo fisiopatológico de las lesiones en piel secundarias a infección por SARS-CoV-2 aún no se ha podido explicar; es probable que se trate de la combinación de uno o más mecanismos complejos, daños cutáneos directos inducidos por el virus, reacciones vasculíticas o lesiones indirectas o secundarias como consecuencia de una reacción inflamatoria sistemática. Se revisaron las publicaciones de 2019 a 2021 en PubMed como fuente principal de búsqueda, para lo cual se utilizaron palabras clave.

[Autoimmune encephalitis-limbic encephalitis. A clinical case]. / Encefalitis autoinmune-encefalitis límbica. Caso clínico.

BACKGROUND: Autoimmune encephalitis occurs as a subacute condition with a strong infectious association in children. In the last 20 years, the frequency of non-infectious cases has increased significantly. CASE REPORT: A previously healthy eight-year-old male child with normal neurodevelopment, without a history of consanguinity, manifested progressive neurological deterioration with autoimmune encephalitis-limbic encephalitis up to hypothalamic dysfunction. CONCLUSION: In the mentioned case, it was documented that an inborn error of the immune system generated a severe neurological clinical picture, with permanent and irreversible damage, secondary to lack of immunological memory in the broad clinical context of a common variable immunodeficiency.

Antecedentes: La encefalitis autoinmune se presenta como un cuadro subagudo con fuerte asociación infecciosa en los niños. En los últimos 20 años, la frecuencia de casos no infecciosos ha aumentado de manera significativa Caso clínico: Niño del sexo masculino de ocho años de edad previamente sano con neurodesarrollo normal, sin antecedente de consanguinidad, en quien se manifestó deterioro neurológico progresivo, desde encefalitis autoinmune-encefalitis límbica hasta disfunción hipotalámica. Conclusión: En el caso referido se documentó un error innato del sistema inmunológico que generó cuadro clínico neurológico severo, con daño permanente e irreversible secundario a falta de memoria inmunológica en el contexto clínico amplio de una inmunodeficiencia común variable.

Efficacy, safety and quality of life in patients receiving subcutaneous IgG treatment: experience in Bogotá, Colombia.

AIM: Investigate efficacy, safety and quality of life of Gammanorm® 16.5% (subcutaneous immunoglobulin [SCIG]) in patients with primary immunodeficiencies (PIDs) and safety and to lesser extent efficacy in autoimmune diseases. PATIENTS & METHODS: Medical records were extracted from 31 pediatric and 12 adult patients who received SCIG as part of the Personalized Program at University Children's Hospital, Bogotá, Colombia. RESULTS: Mean SCIG dose was 28.7 g/month. Serious bacterial infections were observed in 7/33 patients in the PID group, most often bacterial pneumonia (3/33). There were no serious adverse events related to SCIG treatment. Drug-related adverse reactions were reported in 2/43 patients. CONCLUSION: Self-administration of SCIG provided effective protection, favorable tolerability and improved quality of life in patients with PIDs and autoimmune diseases from Colombia.

El arte de la medicina: entre lo místico y la ciencia / The art of medicine: between the mystical and science

La medicina como ciencia y arte se complementan en la práctica cotidiana. Cuando se entienda la propiedad “plástica” de sistemas como el inmunológico, se estará en capacidad de inclinarnos respetuosos y reverentes ante el concepto de la creación...

Medicine as a science and art it complement each other in everyday practice. When we comprehend the attribute of “plasticity” of the immune system, we will be able to incline with respectful and reverential when we think in the concept of Creation...

Alergia a anestésicos locales y generales y a otros medicamentos durante procedimientos quirúrgicos / Allergy to local and general anesthetics and to other drugs during surgical procedures

Las reacciones de choque e hipersensibilidad a los anestésicos locales y generales y a otros medicamentos utilizados durante los procedimientos quirúrgicos, continúan siendo un reto en la práctica clínica. Las reacciones de hipersensibilidad alérgica pueden variar en su presentación e intensidad, y pueden producir desde síntomas leves en la piel hasta la muerte.

Shock and hypersensitivity reactions to local and general anesthetics and to other drugs used during surgical procedures continue being a challenge in clinical practice. Allergic hypersensitivity can vary in presentation and intensity and might manifest itself from mild cutaneous symptoms to death.

Asma, una patología de interés / Asthma, an important pathology

El asma bronquial se considera una enfermedad de interés en salud pública. Latinoamérica tiene una de las prevalencias mas elevadas del mundo; en Colombia se encontró una prevalencia global de 10,4/100. Por tanto es pertinente revisar su definición, epidemiología, clínica, factores de riesgo, diagnóstico, clasificación y tratamiento para realizar el mejor y más adecuado enfoque y seguimiento de los pacientes que la padecen.

Rinitis alérgica: un hecho / Allergic rhinitis: a fact

La rinitis alérgica es una enfermedad de alta prevalencia. En la población infantil, infortunadamente el diagnóstico se hace en forma tardía, alrededor de los seis años. En el presente artículo se intenta estimular al lector a buscar los signos clínicos más sensibles para su diagnóstico y tratamiento tempranos.