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.

Incidence of Guillain-Barré syndrome in an Uruguayan population. A prospective cohort study.

Guillain-Barre syndrome (GBS) is an acute autoimmune peripheral inflammatory neuropathy and the most frequent cause of non-poliovirus acute flaccid paralysis worldwide. Background annual GBS incidence rates (IRs) in Latin America (LA) varies from 0.40 to 2.12/100000 persons per year. We performed a prospective population-based epidemiological study to determine the incidence and clinical profile of GBS in the most densely populated regions in Uruguay. The incidence of GBS in the population living in Montevideo and Canelones was studied in the period between June 01, 2018 and May 31, 2020. Patients older than 16 years of age diagnosed with GBS were prospectively enrolled. The mean global annual IR in the Uruguayan population was 1.7/100000 persons (95% CI 1.25-2.25). The highest rate was observed in the 65 to 74 age group among men (5.25/100000 per year) and in the 55 to 64 age group among women (2/100.000 per year). The mean age was 53.9 ± 19.5, years, without difference by sex (53.5 women, 54.5 men). The in-hospital mortality rate was 5.8%. A total of 51 patients were diagnosed with GBS: 42 (82%) had typical GBS, 5 (10%) Miller-Fisher syndrome (MFS), 3 (7%) a bilateral facial nerve palsy, 1 patient had a GBS-MFS overlap (2.3%). This is the first population-based GBS incidence study in LA using a prospective design. Our IR can be a useful tool in establishing the background rate to examine future disease trends caused by the introduction of new viruses or vaccines in Uruguay.

Celiac disease and gyneco-obstetrics complications: can serum antibodies modulate tissue transglutaminase functions and contribute to clinical pattern?

PROBLEM: Untreated celiac disease (CD) is often associated with early miscarriages, infertility, and alterations in menstrual cycle. Tissue transglutaminase (tTG) antibodies could be involved by interfering with tTG transamidating activity and/or biological functions mediated by its interaction with fibronectin (FN). METHOD OF STUDY: The correlation between the presence of extra-digestive disorders and the reactivity of sera against tTG-FN and its effects on tTG transamidating activity was analyzed in a group or 50 women with recently diagnosed CD. RESULTS: Heterogeneous behavior was observed among serum samples derived from patients with different complaints, suggesting that differences in fine specificity patterns could condition clinical outcome. Sera from women with gynecological and/or obstetric problems induced significant inhibition of in vitro enzymatic activity in comparison with those without these kinds of disorders. CONCLUSIONS: The significant correlation observed between serum effects and clinical profile suggests a putative involvement of tTG-specific antibodies in gynecological and/or obstetric disorders during active CD.

[A strategy for the management of hospitalized children with acute lower respiratory infections]. / Estrategia de atención de niños hospitalizados por infecciones respiratorias agudas bajas.

OBJECTIVES: To improve the quality of care provided to hospitalized children having acute lower respiratory infections (ALRI), to increase the knowledge on this health condition, and to broaden the utilization of health care resources through a program called "Winter Plan". METHODS: The program comprised the use of guidelines for diagnosis and treatment, disease-oriented hospitalizations to provide an increased level of care, management of health care resources and implementation of computerized medical records. Systematic investigation of viral etiology was performed in order to rationalize the use of medications and reduce nosocomial infections. RESULTS: During program implementation (19/V-19/IX/99), 3,317 children were admitted; 1,347 (40.61%) had ALRI, of which 1,096 (81%) were included in the study. Of them, 71% aged less than 1 year. Most ALRI were viral (68%). Admission criteria were: oxygen saturation <95%, tachypnea, retractions or pleural effusion (92.4% of the children). The demand magnitude prevented compliance with isolation guidelines in all cases. Treatment guidelines were followed in a high percentage of cases: 73% of children having bronchiolitis and 72% of those with viral pneumonia received no antibiotics and 96% of children with bacterial pneumonia were put on antibiotics as recommended; use of bronchodilators and corticosteroids was reduced. Medication costs were reduced especially in the corticosteroid group, which meant a greater impact on hospitalization costs. CONCLUSIONS: To decrease ALRI morbidity and mortality there is a need to continue improving the quality of health care during hospitalization and to reinforce health promotion actions and preventive programs at the primary level.