Clinical characteristics, laboratory findings, and tolerance acquisition in infants with cow's milk protein allergy in a private center in Lima, Peru for the period 2021-2022.

BACKGROUND: Cow's milk protein allergy (CMPA) remains relatively understudied in Latin America. METHODS: In this observational study, we enrolled 64 patients with a median age of 3 months, of whom 60% were male. Patients included had a history of IgE-mediated reactions with IgE sensitization or non-IgE-mediated reactions or symptoms following exposure to cow's milk. They underwent skin prick test, ImmunoCAP, fecal calprotectin (FC), and fecal eosinophil-derived neurotoxin (EDN), in addition to double-blinded placebo-controlled oral food challenges (DBPCFC), with clinical evolution and tolerance acquisition observed over 1 year. RESULTS: Malnutrition was present in 78.1% of patients, and 87.5% had a family history of atopy, with 51.6% receiving exclusive breastfeeding. Gastrointestinal manifestations were prevalent in 90.6% of patients, followed by dermatological manifestations (10.9%), with only 2 experiencing anaphylaxis. IgE-mediated CMPA was observed in only six patients. In those with non-IgE-mediated CMPA, FC had a median of 284 mg/dL (IQR: 138.5-415.5), while EDN had a median of 508.5 mg/dL (IQR: 160.25-868). One year after diagnosis, median FC significantly decreased (p < 0.0001), and malnutrition prevalence reduced to 17.1%. Moreover, 81% of patients acquired tolerance following DBPCFC, with 52% utilizing nutritional replacement formulas at diagnosis. Notably, 94% of those extensively hydrolyzed casein-based formulas achieved tolerance (p = 0.08). CONCLUSION: Our findings provide a foundational framework for future investigations into CMPA diagnosis, tolerance acquisition, and the utilization of hypoallergenic formulas tailored to the unique characteristics of our region.

Erosion of heterogeneous rock drives diversification of Appalachian fishes.

The high levels of biodiversity supported by mountains suggest a possible link between geologic processes and biological evolution. Freshwater biodiversity is high not only in tectonically active settings but also in tectonically quiescent montane regions such as the Appalachian Mountains. We show that erosion through different rock types drove allopatric divergence between lineages of the Greenfin Darter (Nothonotus chlorobranchius), a fish species endemic to rivers draining metamorphic rocks in the Tennessee River basin in the United States. In the past, metamorphic rock preferred by N. chlorobranchius was more widespread, but as erosion exposed other rock types, lineages of this species were progressively isolated in tributaries farther upstream, where metamorphic rock remained. Our results suggest a geologic mechanism for initiating allopatric diversification in mountains long after tectonic activity ceases.

Clinical efficacy of synbiotics in children with allergic rhinitis: An observational cohort study from a private medical center in Peru.

BACKGROUND: Probiotics in allergic rhinitis (AR) have shown improvement in clinical and quality of life scores, whereas the role of synbiotics in the treatment of AR has been poorly investigated. The purpose of this study was to evaluate the clinical efficacy of synbiotics in children with AR. METHODS: An observational, prospective cohort study of pediatric outpatients with AR from a private medical center in Peru (2021) was conducted. At baseline, patients who were prescribed synbiotics during routine and those who were not (controls) recruited and followed up on Days 30, 60, and 90 of follow-up. Clinical efficacy was assessed with differences in Visual Analogous Scale (VAS), Total Nasal Symptom Score (TNSS), Rhinitis Control Assessment Test (RCAT), and the Pediatric Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ) scores between groups at follow-up. Mean differences ± standard deviation (SD) and 95% confidence intervals (95% CI) are reported. RESULTS: Two hundred and fifteen participants were analyzed. Compared to controls (n = 115), those who used synbiotics (n = 100) had significantly lower VAS (mean difference 1.3; 95% CI: 0.8-1.8), TNSS (mean difference 1.1; 95% CI: 0.5-1.7) and higher RCAT scores and PRQLQ scores (mean difference 2.2; 95% CI: -3.3 to -1.2) and (mean difference 7.0; 95% CI: 3.1-10.9), respectively, at Day 90 of follow-up CONCLUSIONS: This paper reports significant improvement in clinical (VAS, RCAT, TNSS) and quality of life (PRQLQ) scores of small and large sizes, respectively. These preliminary findings support the need of future trials to assess the role of synbiotics in children with AR.

Chronic urticaria patients are interested in apps to monitor their disease activity and control: A UCARE CURICT analysis.

BACKGROUND: Information/communication technologies such as mobile phone applications (apps) would enable chronic urticaria (CU) patients to self-evaluate their disease activity and control. Yet, recently Antó et al (2021) reported a global paucity of such apps for patients with CU. In this analysis, we assessed patient interest in using apps to monitor CU disease activity and control using questions from the chronic urticaria information and communication technologies (CURICT) study. METHODS: The methodology for CURICT has been reported. Briefly, a 23-item questionnaire was completed by 1841 CU patients from 17 UCAREs across 17 countries. Here, we analyzed patient responses to the CURICT questions on the use of apps for urticaria-related purposes. RESULTS: As previously published, the majority of respondents had chronic spontaneous urticaria (CSU; 63%; 18% chronic inducible urticaria (CIndU) [CIndu]; 19% with both), were female (70%) and in urban areas (75%). Over half of patients were very/extremely interested in an app to monitor disease activity (51%) and control (53%), while only ∼1/10 were not. Patients with both urticaria types versus those with CSU only (odds ratio [OR], 1.36 [1.03-1.79]) and females versus males (OR [95% CI], 1.47 [1.17-1.85]) were more likely to be very to extremely interested in an app to assess disease control. CONCLUSIONS: Overall, half of the patients with CU were very to extremely interested in using an app to assess their disease activity and control. Development of well-designed apps, specific to disease types (CSU, CIndU, CSU + CIndU, etc), validated by experts across platforms would help improve the management and possibly outcomes of CU treatment while providing important patient information to be used in future research.

How are patients with chronic urticaria interested in using information and communication technologies to guide their healthcare? A UCARE study.

BACKGROUND: Patients with chronic urticaria (CU) are increasingly using information and communication technologies (ICTs) to manage their health. What CU patients expect from ICTs and which ICTs they prefer remains unknown. We assessed why CU patients use ICTs, which ones they prefer, and what drives their expectations and choices. METHODS: In this cross-sectional study, 1841 patients across 17 countries were recruited at UCAREs (Urticaria Centers of Reference and Excellence). Patients with CU who were >12 years old completed a 23-item questionnaire. RESULTS: Most patients were interested in receiving disease information (87.3%), asking physicians about CU (84.1%), and communicating with other patients through ICTs (65.6%). For receiving disease information, patients preferred one-to-one and one-to-many ICTs, especially web browsers. One-to-one ICTs were also the ICTs of choice for asking physicians about urticaria and for communicating with other patients, and e-mail and WhatsApp were the preferred ICTs, respectively. Many-to-many ICTs such as Facebook, Instagram, LinkedIn, and Twitter were least preferred for all 3 purposes. Living in rural areas and higher education were linked to higher odds of being interested in receiving disease information, asking physicians, and communicating with patients through ICTs. CONCLUSIONS: Most patients and especially patients with higher education who live in rural areas are interested in using ICTs for their healthcare, but prefer different ICTs for different purposes, ie, web browsers for obtaining information, e-mail for asking physicians, and WhatsApp for communicating with other patients. Our findings may help to improve ICTs for CU.

Genomic and phenotypic divergence informs translocation strategies for an endangered freshwater fish.

Translocation, the movement of organisms for conservation purposes, can result in unintended introgression if genetic material flows between populations in new ways. The Bluemask Darter Etheostoma akatulo is a federally endangered species of freshwater fish inhabiting the Caney Fork River system and three of its tributaries (Collins River, Rocky River, and Cane Creek) in Tennessee. The current conservation strategy for Bluemask Darters involves translocating the progeny of broodstock from the Collins River (in the west) to the Calfkiller River (in the east) where the species had been extirpated. In this study, we use ddRAD sequence data from across the extant range to assess this translocation strategy in light of population structure, phylogeny, and demography. We also include museum specimen data to assess morphological variation among extant and extirpated populations. Our analyses reveal substantial genetic and phenotypic disparities between a western population in the Collins River and an eastern population encompassing the Rocky River, Cane Creek, and upper Caney Fork, the two of which shared common ancestry more than 100,000 years ago. Furthermore, morphological analyses classify 12 of 13 Calfkiller River specimens with phenotypes consistent with the eastern population. These results suggest that current translocations perturb the evolutionary boundaries between two delimited populations. Instead, we suggest that repopulating the Calfkiller River using juveniles from the Rocky River could balance conflicting signatures of demography, diversity, and divergence. Beyond conservation, the microgeographic structure of Bluemask Darter populations adds another puzzle to the phylogeography of the hyperdiverse freshwater fishes in eastern North America.

Guía de práctica clínica: tamizaje, diagnóstico y manejo de episodios agudos y profilaxis del angioedema hereditario ­ Parte I: Enfoque diagnóstico / Clinical practice guidelines: screening, diagnosis and management of acute events and prophylaxis of hereditary angioedema ­ Part I: Diagnostic approach

El angioedema hereditario (AEH) es una enfermedad genética rara, con una prevalencia aproximada entre 1 por cada 50.000 habitantes, caracterizada por episodios de edemas a nivel subcutáneo y de mucosas (abdominal, genitourinario, respiratoria), siendo potencialmente mortal cuando hay afectación de la laringe. En Perú se estiman 600 pacientes con AEH. El AEH se puede clasificar del siguiente modo: con deficiencia del inhibidor de C1 (tipos I y II), y sin deficiencia del inhibidor de C1 (denominado anteriormente tipo III). El diagnóstico de laboratorio incluye prueba de complemento C4, prueba cuantitativa y cualitativa para inhibidor de C1 esterasa, y estudios genéticos.

Hereditary angioedema (HAE) is a genetic rare disease with a prevalence of approximately 1 per 50,000 inhabitants, characterized by episodes of edema at the subcutaneous level and mucous membranes (abdominal, genitourinary, respiratory), being potentially fatal when there is involvement of the larynx. In Peru, there are an estimated 600 patients with HAE. HAE can be classified as follows: with C1 inhibitor deficiency (types I and II), and without C1 inhibitor deficiency (previously called type III). Laboratory diagnosis includes C4 complement test, quantitative and qualitative tests for C1 inhibitor esterase, and genetic studies. In this first part of the Clinical Practice Guide, we present the recommendations for the diagnostic approach of HAE.

Guía de práctica clínica: tamizaje, diagnóstico y manejo de episodios agudos y profilaxis del angioedema hereditario ­ Parte II: Manejo y tratamiento / Clinical practice guidelines: screening, diagnosis and management of acute events and prophylaxis of hereditary angioedema ­ Part II: Management and treatment

El angioedema hereditario (AEH) es una enfermedad genética rara, con una prevalencia aproximada entre 1 por cada 50.000 habitantes, caracterizada por episodios de edemas a nivel subcutáneo y de mucosas (abdominal, genitourinario, respiratoria), siendo potencialmente mortal cuando hay afectación de la laringe. En Perú se estiman 600 pacientes con AEH. El AEH se puede clasificar del siguiente modo: con deficiencia del inhibidor de C1 (tipos I y II), y sin deficiencia del inhibidor de C1 (denominado anteriormente tipo III). El diagnóstico de laboratorio incluye prueba de complemento C4, prueba cuantitativa y cualitativa para inhibidor de C1 esterasa, y estudios genéticos. Existen tratamientos específicos a nivel mundial para crisis agudas y profilaxis en AEH. Sin embargo, en Perú el único tratamiento registrado actualmente es el ecallantide, útil en crisis agudas; además, podemos utilizar tratamientos alternativos como el ácido tranexámico y el danazol. En esta segunda parte de la Guía de Práctica Clínica, presentamos las recomendaciones para el manejo y el tratamiento del AEH.

Hereditary angioedema (HAE) is a genetic rare disease with a prevalence of approximately 1 per 50,000 inhabitants, characterized by episodes of edema at the subcutaneous level and mucous membranes (abdominal, genitourinary, respiratory), being potentially fatal when there is involvement of the larynx. In Peru, there are an estimated 600 patients with HAE. HAE can be classified as follows: with C1 inhibitor deficiency (types I and II), and without C1 inhibitor deficiency (previously called type III). Laboratory diagnosis includes C4 complement test, quantitative and qualitative test for C1 inhibitor esterase, and genetic studies. There are specific treatments worldwide for acute crises and prophylaxis in HAE; in Peru the only currently registered treatment is ecallantide, useful in acute crises; we can also use alternative treatments such as tranexamic acid and danazol. In this second part of the Clinical Practice Guide, we present the recommendations for the management and treatment of HAE.

The usage, quality and relevance of information and communications technologies in patients with chronic urticaria: A UCARE study.

BACKGROUND: Chronic urticaria (CU) is characterized by itchy recurrent wheals, angioedema, or both for 6 weeks or longer. CU can greatly impact patients' physical and emotional quality of life. Patients with chronic conditions are increasingly seeking information from information and communications technologies (ICTs) to manage their health. The objective of this study was to assess the frequency of usage and preference of ICTs from the perspective of patients with CU. METHODS: In this cross-sectional study, 1800 patients were recruited from primary healthcare centers, university hospitals or specialized clinics that form part of the UCARE (Urticaria Centers of Reference and Excellence) network throughout 16 countries. Patients were >12 years old and had physician-diagnosed chronic spontaneous urticaria (CSU) or chronic inducible urticaria (CIndU). Patients completed a 23-item questionnaire containing questions about ICT usage, including the type, frequency, preference, and quality, answers to which were recorded in a standardized database at each center. For analysis, ICTs were categorized into 3 groups as follows: one-to-one: SMS, WhatsApp, Skype, and email; one-to-many: YouTube, web browsers, and blogs or forums; many-to-many: Instagram, Twitter, Facebook, and LinkedIn. RESULTS: Overall, 99.6% of CU patients had access to ICT platforms and 96.7% had internet access. Daily, 85.4% patients used one-to-one ICT platforms most often, followed by one-to-many ICTs (75.5%) and many-to-many ICTs (59.2%). The daily ICT usage was highest for web browsers (72.7%) and WhatsApp (70.0%). The general usage of ICT platforms increased in patients with higher levels of education. One-to-many was the preferred ICT category for obtaining general health information (78.3%) and for CU-related information (75.4%). A web browser (77.6%) was by far the most commonly used ICT to obtain general health information, followed by YouTube (25.8%) and Facebook (16.3%). Similarly, for CU-specific information, 3 out of 4 patients (74.6%) used a web browser, 20.9% used YouTube, and 13.6% used Facebook. One in 5 (21.6%) patients did not use any form of ICT for obtaining information on CU. The quality of the information obtained from one-to-many ICTs was rated much more often as very interesting and of good quality for general health information (53.5%) and CU-related information (51.5%) as compared to the other categories. CONCLUSIONS: Usage of ICTs for health and CU-specific information is extremely high in all countries analyzed, with web browsers being the preferred ICT platform.

Influence of alexithymia on the management of Latin American patients with asthma: A cross-sectional study.

OBJECTIVES: In asthmatic patients, studies suggest that alexithymia leads to negative consequences and emotions that can affect physical, psychological, and social aspects of life. We designed this study to determine the frequency of alexithymia in Latin American patients with asthma, as well as to understand how this personality trait and each of its components interact with asthma severity and demographic variables, and their implications on treatment adherence and disease control under such setting. METHODS: We conducted a cross-sectional study, involving 265 Latin American patients with asthma. Patient demographics and clinical characteristics were reported. The presence of alexithymia, asthma severity, and control, as well as treatment adherence, was analyzed. To assess the presence of alexithymia, the 20-item Toronto Alexithymia Scale was used. For the statistical analyses, we performed Kendall's tau-b correlation coefficient, chi-square tests for association, and one-way analysis of variance. RESULTS: A total of 265 patients participated in the study with a gender distribution of 69.4% female and an average age of 54.7 years. In total, 30.2% of individuals presented alexithymia. There was a statistically significant correlation between educational level and 20-item Toronto Alexithymia Scale categories (p < .001), as well as a higher proportion of severe (35.1%, p = .001) and uncontrolled (50.0%, p = .185) asthma in patients with alexithymia. A higher proportion of patients with some level of non-adherence was seen on those with uncontrolled asthma (68.5%, p = .008). CONCLUSION: Our results suggest that in our sample, 3 in 10 Latin American asthma patients have alexithymia, and such mental condition is more common in those individuals with lower educational levels. Individuals with alexithymia present with severe asthma more frequently than do patients with possible or no alexithymia and are also more likely to have their disease uncontrolled.

Sensitization to aeroallergens in a peruvian pediatric population with allergic diseases. / Sensibilización a aeroalérgenos en una población pediátrica peruana con enfermedades alérgicas.

In order to determine the profile of sensitization to aeroallergens in pediatric patients with asthma and / or allergic rhinitis, a cross-sectional study was carried out in 411 patients using an allergy skin test. Age, sex, total IgE level and eosinophils were analyzed. The mean age was 8.1 ± 3.7 years and 60.6% were male. The average of the eosinophils and the level of total IgE was 450.1 ± 377.3 cells / mm3 and 861.7 ± 757.6 IU / mL, respectively. Mites were the most frequent sensitizing allergens (79.8%) and Dermatophagoides farinae (65.2%) was the most common. Polysensitization was present in 76.2% of patients. Sensitization was evident in the majority of patients with asthma and / or allergic rhinitis and was associated with age, age groups and total IgE level.

Con el objetivo de determinar el perfil de sensibilización a aeroalérgenos en pacientes pediátricos con asma y/o rinitis alérgica se realizó un estudio transversal en 411 pacientes usando una prueba cutánea de alergia. Se analizó la edad, sexo, nivel de IgE total y eosinófilos. La edad media fue de 8,1 ± 3,7 años y el 60,6% fueron varones. La media de los eosinófilos y el nivel de IgE total fue de 450,1 ± 377,3 células/mm3 y 861,7 ± 757,6 IU/mL, respectivamente. Los ácaros fueron los alérgenos sensibilizantes más frecuentes (79,8%) y el Dermatophagoides farinae (65,2%) fue el más común. La polisensibilización estuvo presente en el 76,2% de los pacientes. La sensibilización se evidenció en la mayoría de los pacientes con asma y/o rinitis alérgica y estuvo asociada con la edad, grupos etarios y nivel de IgE total.

Sensibilización a aeroalérgenos en una población pediátrica peruana con enfermedades alérgicas / Sensitization to aeroallergens in a peruvian pediatric population with allergic diseases

RESUMEN Con el objetivo de determinar el perfil de sensibilización a aeroalérgenos en pacientes pediátricos con asma y/o rinitis alérgica se realizó un estudio transversal en 411 pacientes usando una prueba cutánea de alergia. Se analizó la edad, sexo, nivel de IgE total y eosinófilos. La edad media fue de 8,1 ± 3,7 años y el 60,6% fueron varones. La media de los eosinófilos y el nivel de IgE total fue de 450,1 ± 377,3 células/mm3 y 861,7 ± 757,6 IU/mL, respectivamente. Los ácaros fueron los alérgenos sensibilizantes más frecuentes (79,8%) y el Dermatophagoides farinae (65,2%) fue el más común. La polisensibilización estuvo presente en el 76,2% de los pacientes. La sensibilización se evidenció en la mayoría de los pacientes con asma y/o rinitis alérgica y estuvo asociada con la edad, grupos etarios y nivel de IgE total.

ABSTRACT In order to determine the profile of sensitization to aeroallergens in pediatric patients with asthma and / or allergic rhinitis, a cross-sectional study was carried out in 411 patients using an allergy skin test. Age, sex, total IgE level and eosinophils were analyzed. The mean age was 8.1 ± 3.7 years and 60.6% were male. The average of the eosinophils and the level of total IgE was 450.1 ± 377.3 cells / mm3 and 861.7 ± 757.6 IU / mL, respectively. Mites were the most frequent sensitizing allergens (79.8%) and Dermatophagoides farinae (65.2%) was the most common. Polysensitization was present in 76.2% of patients. Sensitization was evident in the majority of patients with asthma and / or allergic rhinitis and was associated with age, age groups and total IgE level.

[Lymphocyte population count as a first approach to the diagnosis of primary immunodeficiencies]. / Recuento poblacional linfocitario como primera aproximación al diagnóstico de inmunodeficiencias primarias.

Primary immunodeficiencies (PID) are characterized by alterations in the components of the immune system. The lymphocyte population count by flow cytometry is an approach to molecular diagnosis and is expressed by immunophenotypes. The objective of the study was to describe the lymphocyte population count and immunophenotyping compatible with PID in patients with suspected PID in a Peruvian national reference hospital. Records of 261 cases meeting the Jeffrey Modell Foundation's PID clinical suspicion criteria were reviewed between April and December of 2016. Of the 261 suspected cases of PID, 54.8% were males. We found 93 patients (35.6%) with PID-compatible immunophenotyping. The common variable immunodeficiency immunophenotype was the most frequent (36.6%), followed by agammaglobulinemias (18.3%). Antibody deficiencies were the most common PID. Other molecular tests are needed for a specific genetic diagnosis.

Las inmunodeficiencias primarias (IDP) se caracterizan por alteraciones de los componentes del sistema inmunitario. El recuento poblacional linfocitario por citometría de flujo es una aproximación al diagnóstico molecular y se expresa por inmunofenotipos. El objetivo del estudio fue describir el recuento poblacional linfocitario y los inmunofenotipos compatibles con IDP en pacientes con sospecha de IDP en un hospital de referencia nacional peruano. Se revisaron los registros de 261 casos que cumplían con los criterios de sospecha clínica para IDP de la Jeffrey Modell Foundation entre abril y diciembre de 2016. De los 261 casos con sospecha de IDP se hallaron 54,8% de varones. Se encontró 93 pacientes (35,6%) con inmunofenotipos compatibles con alguna IDP. El inmunofenotipo de inmunodeficiencia común variable fue más frecuente (36,6%), seguido de agammaglobulinemias (18,3%). Las deficiencias de anticuerpos fueron las IDP más frecuentes. Es necesario realizar otras pruebas moleculares para el diagnóstico genético específico.

Diagnóstico genético de pacientes con agammaglobulinemia primaria atendidos en centros peruanos de tercer nivel / Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers

Las agammaglobulinemias primarias (AP) resultan de alteraciones específicas en las células B, lo cual, conduce a baja producción de anticuerpos. La sospecha diagnóstica se establece con el antecedente de infecciones a repetición, inmunoglobulinas bajas y la ausencia linfocitos B CD19+. El diagnóstico se confirma mediante el análisis genético y la detección de una mutación ligada en el cromosoma X o autosómico recesiva o dominante. En Perú, no hay literatura sobre AP ni reportes sobre el genotipo de los pacientes con sospecha de AP. Bajo este escenario, se realizó un estudio que describió el genotipo de pacientes con sospecha de AP. Se encontraron 20 pacientes con mutaciones en el gen BTK y una mutación autosómica recesiva IGHM. Se hallaron 13 mutaciones hereditarias y siete mutaciones de novo. Se concluye que las AP son, en su mayoría, mutaciones en el gen BTK que corresponden con AP ligadas al cromosoma X.

Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes. The diagnosis is confirmed by genetic analysis and the detection of a mutation linked to the X or autosomal recessive or dominant chromosome. In Peru, there is no literature on primary agammaglobulinemia and no reports on the genotype of patients with suspected primary agammaglobulinemia. Under this scenario, a study was performed to describe the genotype of patients with suspected primary agammaglobulinemia. Twenty (20) patients were found with mutations in the BTK gene and an autosomal recessive IGHM mutation. Thirteen (13) hereditary mutations and seven de novo mutations were found. It is concluded that the group of primary agammaglobulinemia are mostly mutations in the BTK gene, corresponding to X-linked agammaglobulinemia.

Recuento poblacional linfocitario como primera aproximación al diagnóstico de inmunodeficiencias primarias / Lymphocyte population count as a first approach to the diagnosis of primary immunodeficiencies

RESUMEN Las inmunodeficiencias primarias (IDP) se caracterizan por alteraciones de los componentes del sistema inmunitario. El recuento poblacional linfocitario por citometría de flujo es una aproximación al diagnóstico molecular y se expresa por inmunofenotipos. El objetivo del estudio fue describir el recuento poblacional linfocitario y los inmunofenotipos compatibles con IDP en pacientes con sospecha de IDP en un hospital de referencia nacional peruano. Se revisaron los registros de 261 casos que cumplían con los criterios de sospecha clínica para IDP de la Jeffrey Modell Foundation entre abril y diciembre de 2016. De los 261 casos con sospecha de IDP se hallaron 54,8% de varones. Se encontró 93 pacientes (35,6%) con inmunofenotipos compatibles con alguna IDP. El inmunofenotipo de inmunodeficiencia común variable fue más frecuente (36,6%), seguido de agammaglobulinemias (18,3%). Las deficiencias de anticuerpos fueron las IDP más frecuentes. Es necesario realizar otras pruebas moleculares para el diagnóstico genético específico.

ABSTRACT Primary immunodeficiencies (PID) are characterized by alterations in the components of the immune system. The lymphocyte population count by flow cytometry is an approach to molecular diagnosis and is expressed by immunophenotypes. The objective of the study was to describe the lymphocyte population count and immunophenotyping compatible with PID in patients with suspected PID in a Peruvian national reference hospital. Records of 261 cases meeting the Jeffrey Modell Foundation's PID clinical suspicion criteria were reviewed between April and December of 2016. Of the 261 suspected cases of PID, 54.8% were males. We found 93 patients (35.6%) with PID-compatible immunophenotyping. The common variable immunodeficiency immunophenotype was the most frequent (36.6%), followed by agammaglobulinemias (18.3%). Antibody deficiencies were the most common PID. Other molecular tests are needed for a specific genetic diagnosis.

Small size does not restrain frugivory and seed dispersal across the evolutionary radiation of Galápagos lava lizards.

Frugivory in lizards is often assumed to be constrained by body size; only large individuals are considered capable of consuming fruits, with the potential of acting as seed dispersers. However, only one previous study has tested the correlation of frugivory with body and head size at an archipelago scale across closely related species. All nine lava lizards (Microlophus spp.) were studied on the eleven largest Galápagos islands from 2010 to 2016 to investigate whether frugivory is related to body and head size. We also tested whether fruit abundance influences fruit consumption and explored the effect of seed ingestion on seedling emergence time and percentage. Our results showed that across islands, lava lizards varied considerably in size (64-102 mm in mean snout-vent length) and level of frugivory (1-23%, i.e., percentage of droppings with seeds). However, level of frugivory was only weakly affected by size as fruit consumption was also common among small lizards. Lava lizards consumed fruits throughout the year and factors other than fruit abundance may be more important drivers of fruit selection (e.g., fruit size, energy content of pulp). From 2,530 droppings, 1,714 seeds of at least 61 plant species were identified, 76% of the species being native to the Galápagos. Most seeds (91%) showed no external structural damage. Seedling emergence time (44 versus 118 days) and percentage (20% versus 12%) were enhanced for lizard-ingested seeds compared to control (uningested) fruits. De-pulping by lizards (i.e., removal of pulp with potential germination inhibitors) might increase the chances that at least some seeds find suitable recruitment conditions. We concluded that lizards are important seed dispersers throughout the year and across the whole archipelago, regardless of body size.

Learnings from real-life experience of using omalizumab for chronic urticaria in Latin America.

BACKGROUND: Updated urticaria guidelines recommend that patients should be assessed for disease activity, severity, control, and quality of life at baseline and follow up. Regarding treatment, guidelines consider second generation antihistamines as the cornerstone in therapy for chronic urticaria (CU), while other drugs, such as omalizumab, are conceived as second-line alternatives. In regards to omalizumab, despite advances in the management of CU, there are still open questions about timing, dosing, and objective measures for clinical response. This study was designed to portray the use of patient-reported outcomes (PROs) in chronic urticaria management, as well as the effectiveness and treatment patterns of omalizumab in CU, as seen in a real-life setting in Latin America. METHODS: This is a retrospective observational study, involving 72 Latin American patients with chronic urticaria treated with omalizumab. Patient reported outcomes and treatment patterns, response, quality of life improvement and discontinuation were analyzed. RESULTS: From the 72 patients, 91.7% (n = 66) were assessed through PROs, where urticaria control test (UCT) was the most used (79.2%; n = 57). Overall, 80.0% (n = 44) responded to omalizumab at some point of the treatment. Omalizumab 300 mg was associated with earlier response compared to lower doses. Regardless of dosage, most patients assessed with CU-Q2oL improved quality of life (80.8%; n = 21). With respect to omalizumab discontinuation, 20.8% (n = 15) patients interrupted omalizumab before the 3rd month of treatment (p = .000). CONCLUSIONS: The present study highlights how the use of PROs and omalizumab in Latin America differ from guidelines' recommendations and clinical trials. Even though most patients were initiated under omalizumab 300 mg, most of them finished with lower doses. Regardless of dosage, most patients responded to omalizumab and improved quality of life at some point during treatment. However, such features were seen earlier with omalizumab 300 mg. Regarding treatment discontinuation, one-fifth of patients interrupted omalizumab before the third month.

Sterile marginal flowers increase visitation and fruit set in the hobblebush (Viburnum lantanoides, Adoxaceae) at multiple spatial scales.

Background and Aims: Enlarged sterile flowers on the periphery of inflorescences increase the attractiveness of floral displays, and previous studies have generally demonstrated that these have positive effects on insect visitation and/or reproductive success. However, experiments have not specifically been designed to examine the benefits of sterile flowers under conditions that reflect the early stages in their evolution, i.e. when plants that produce sterile flowers are at low frequency. Methods: Over three years, three experiments were performed in natural populations of Viburnum lantanoides, which produces sterile marginal flowers (SMFs). The first experiment established that fruit production in V. lantanoides increases with the receipt of outcross pollen. The second tested the role of SMFs under extant conditions, comparing fruit production in two populations composed entirely of intact plants or entirely of plants with the SMFs removed. The third was designed to mimic the presumed context in which SMFs first evolved; here, SMFs were removed from all but a few plants in a population, and rates of insect visitation and fruit set were compared between plants with intact and denuded SMFs. Key Results: In comparing whole populations, the presence of SMFs nearly doubled fruit set. Under simulated 'ancestral' conditions within a population, plants with intact SMFs received double the insect visits and produced significantly more fruits than denuded plants. There was no significant effect of the number of inflorescences or fertile flowers on insect visitation or fruit set, indicating that the presence of SMFs accounted for these differences. Conclusions: The presence of SMFs significantly increased pollinator attraction and female reproductive success both in contemporary and simulated ancestral contexts, indicating that stabilizing selection is responsible for their maintenance, and directional selection likely drove their evolution when they first appeared. This study demonstrates a novel approach to incorporating historically relevant scenarios into experimental studies of floral evolution.

[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers]. / Diagnóstico genético de pacientes con agammaglobulinemia primaria atendidos en centros peruanos de tercer nivel.

Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes. The diagnosis is confirmed by genetic analysis and the detection of a mutation linked to the X or autosomal recessive or dominant chromosome. In Peru, there is no literature on primary agammaglobulinemia and no reports on the genotype of patients with suspected primary agammaglobulinemia. Under this scenario, a study was performed to describe the genotype of patients with suspected primary agammaglobulinemia. Twenty (20) patients were found with mutations in the BTK gene and an autosomal recessive IGHM mutation. Thirteen (13) hereditary mutations and seven de novo mutations were found. It is concluded that the group of primary agammaglobulinemia are mostly mutations in the BTK gene, corresponding to X-linked agammaglobulinemia.

Las agammaglobulinemias primarias (AP) resultan de alteraciones específicas en las células B, lo cual, conduce a baja producción de anticuerpos. La sospecha diagnóstica se establece con el antecedente de infecciones a repetición, inmunoglobulinas bajas y la ausencia linfocitos B CD19+. El diagnóstico se confirma mediante el análisis genético y la detección de una mutación ligada en el cromosoma X o autosómico recesiva o dominante. En Perú, no hay literatura sobre AP ni reportes sobre el genotipo de los pacientes con sospecha de AP. Bajo este escenario, se realizó un estudio que describió el genotipo de pacientes con sospecha de AP. Se encontraron 20 pacientes con mutaciones en el gen BTK y una mutación autosómica recesiva IGHM. Se hallaron 13 mutaciones hereditarias y siete mutaciones de novo. Se concluye que las AP son, en su mayoría, mutaciones en el gen BTK que corresponden con AP ligadas al cromosoma X.

Description of a New Galapagos Giant Tortoise Species (Chelonoidis; Testudines: Testudinidae) from Cerro Fatal on Santa Cruz Island.

The taxonomy of giant Galapagos tortoises (Chelonoidis spp.) is currently based primarily on morphological characters and island of origin. Over the last decade, compelling genetic evidence has accumulated for multiple independent evolutionary lineages, spurring the need for taxonomic revision. On the island of Santa Cruz there is currently a single named species, C. porteri. Recent genetic and morphological studies have shown that, within this taxon, there are two evolutionarily and spatially distinct lineages on the western and eastern sectors of the island, known as the Reserva and Cerro Fatal populations, respectively. Analyses of DNA from natural populations and museum specimens, including the type specimen for C. porteri, confirm the genetic distinctiveness of these two lineages and support elevation of the Cerro Fatal tortoises to the rank of species. In this paper, we identify DNA characters that define this new species, and infer evolutionary relationships relative to other species of Galapagos tortoises.