RESUMEN
Cerebellofaciodental syndrome is characterized by facial dysmorphisms, intellectual disability, cerebellar hypoplasia, and dental anomalies. It is an autosomal-recessive condition described in 2015 caused by pathogenic variants in BRF1. Here, we report a Brazilian patient who faced a diagnostic challenge beginning at 11 months of age. Fortunately, whole-exome sequencing (WES) was performed, detecting the BRF1 variants NM_001519.3:c.1649delG:p.(Gly550Alafs*36) and c.421C>T:p.(Arg141Cys) in compound heterozygosity, thus finally achieving a diagnosis of cerebellofaciodental syndrome. The patient is currently 25 years old and is the oldest patient yet reported. The clinical report and a review of published cases are presented. Atlanto-occipital fusion, a reduced foramen magnum and basilar invagination leading to compression of the medulla-spinal cord transition are skeletal findings not reported in previous cases. The description of syndromes with dental findings shows that such anomalies can be an important clue to relevant differential diagnoses. The cooperation of groups from different international centers made possible the resolution of this and other cases and is one of the strategies to bring medical advances to developing countries, where many patients with rare diseases are difficult to diagnose definitively.
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Anomalías Múltiples/genética , Cerebelo/anomalías , Anomalías Craneofaciales/genética , Discapacidad Intelectual/genética , Atrofia Muscular/genética , Malformaciones del Sistema Nervioso/genética , Factores Asociados con la Proteína de Unión a TATA/genética , Anomalías Dentarias/genética , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/fisiopatología , Adulto , Brasil/epidemiología , Cerebelo/diagnóstico por imagen , Cerebelo/fisiopatología , Niño , Preescolar , Anomalías Craneofaciales/diagnóstico por imagen , Anomalías Craneofaciales/fisiopatología , Discapacidades del Desarrollo/diagnóstico por imagen , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/fisiopatología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Lactante , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/fisiopatología , Masculino , Atrofia Muscular/diagnóstico por imagen , Atrofia Muscular/fisiopatología , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Malformaciones del Sistema Nervioso/fisiopatología , Anomalías Dentarias/diagnóstico por imagen , Anomalías Dentarias/fisiopatología , Secuenciación del ExomaRESUMEN
BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of lung, skin, lymph nodes, and liver are the hallmark of CGD and frequently the initial manifestation of the disease. The aim of the present paper is to describe the sites of infections and their causative agents in 38 pediatric patients with CGD. METHODS: This retrospective, single-center cohort study included CGD patients followed at the allergy and immunology unit of a tertiary hospital in São Paulo, Brazil over the last 40 years. Sites of infections and their causative agents were described. RESULTS: Thirty-eight patients were included (36 males). The median age of onset of symptoms was 45 days (ranging from 7 days-7 years), and the median age at diagnosis was 23 months (ranging from 1 month-12 years). In all, 31.6% of the patients reported a family history of child deaths and 21% (eight cases) had another male family member with CGD. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%); 188 cultures were positive (85.6% bacteria; 14.4% fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in one patient (0.9%). CONCLUSION: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents found in this cohort. M. tuberculosis should be considered in endemic area. Detection of infectious agents drives to the adequate treatment and benefits the evolution of patients with CGD.
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Infecciones Bacterianas/microbiología , Enfermedad Granulomatosa Crónica/complicaciones , Micosis/microbiología , Bacterias/inmunología , Bacterias/aislamiento & purificación , Infecciones Bacterianas/diagnóstico , Infecciones Bacterianas/inmunología , Brasil , Niño , Preescolar , Estudios Transversales , Femenino , Hongos/inmunología , Hongos/aislamiento & purificación , Enfermedad Granulomatosa Crónica/inmunología , Humanos , Lactante , Masculino , Micosis/diagnóstico , Micosis/inmunología , Estudios RetrospectivosRESUMEN
The Phadiatop Infant® (PhInf) is a panel developed to assess allergic sensitization (immunoglobulin E [IgE]) in children aged <5 years and combines inhalant and food allergens. The test has not been evaluated outside Europe. This is a cross-sectional study conducted at 11 pediatric allergy centers to evaluate PhInf as an allergic disease screening method in Brazilian children. Children as controls and patients (aged 6 months-18 years) were grouped according to their primary disease and age group. PhInf and specific serum IgE (sIgE) screening was performed for Dermatophagoides pteronyssinus (DP), cat and dog epithelia, a mix of grasses and pollens, eggs, cow's milk, peanuts, and shrimp. Values ≥ 0.35 kUA/L (or PAU/L) were considered positive. A total of 470 children and adolescents, which included 385 patients and 85 controls, participated in the study (47.7% boys, average age: 6.3 years). In all, 72.6% of the participants had positive PhInf test (n = 341), with a higher proportion of those having food allergy (92.6%), atopic dermatitis (91.9%), and those aged >13 years having allergy (95%). The PhInf and sIgE agreement between patients (Kappa = 0.94, P < 0.001) and controls (Kappa = 0.84, P < 0.001) was high. PhInf and DP agreement in patients aged >13 years was excellent (Kappa = 0.936, P < 0.001). Compared with sIgE dosage, PhInf had high sensitivity (97%) and specificity (93%). Positivity of PhInf test in this population was high and had an excellent correlation with the allergens comprising the panel. It is a useful method for screening children suspected of having allergic diseases in a non-European country.
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Hipersensibilidad a los Alimentos , Laboratorios , Adolescente , Alérgenos , Animales , Gatos , Bovinos , Estudios Transversales , Perros , Femenino , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/epidemiología , Humanos , Inmunoglobulina E , LactanteRESUMEN
The clinical history is of importance in the investigation of allergic diseases but does have limitations. Many allergic conditions will be over-diagnosed if anamnesis alone is used for diagnostic criteria. Serum total immunoglobulin E (TIgE) quantification, as well as panels containing allergens prevalent in the studied population, may serve as screening tests and facilitate the diagnosis of allergic disease or its exclusion. We assessed the positivity of two versions of these tests, Phadiatop Europe® (PhEU) and Phadiatop Infant® (PhInf), as well as total IgE (TigE) values in patients with a medical diagnosis of allergic disease and non-allergic individuals. METHODS: A cross-sectional study performed in eleven Brazilian pediatric allergy centers with patients divided into groups according to the primary condition and a group of assessed control subjects. They were submitted to TIgE measurement and screening tests (PhEu and PhInf). RESULTS: TIgE mean serum levels were significantly higher among allergic patients, especially those with asthma/rhinitis or atopic dermatitis. The positivity of the screening tests, considering the total population, was 63.8% for PhEU and 72.6% for PhInf. These increased when we evaluated only the allergic subjects. The concordance index of the two tests was Kappa=0.7 and higher among those of greater age. CONCLUSIONS: In the assessed population, there were significantly higher levels among those with positive screening tests and PhInf showed better performance in the identification of sensitized individuals, regardless of age. This is the first study to evaluate Phadiatop and Phadiatop Infant in the same population.
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Factores de Edad , Hipersensibilidad/diagnóstico , Pruebas Cutáneas/métodos , Adolescente , Alérgenos/inmunología , Brasil/epidemiología , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Hipersensibilidad/epidemiología , Inmunoglobulina E/metabolismo , Lactante , Masculino , PrevalenciaRESUMEN
Identification of genetic causes of primary monogenic immunodeficiencies would strengthen the current understanding of their immunopathology. Pathogenic variants in genes in association with tumor necrosis factor α (TNFα) signaling, including OTULIN, TNFAIP3, RBCK1, and RNF31 cause human congenital autoinflammatory diseases with/without immunodeficiency. RIPK1, encoding a receptor interacting serine/threonine kinase 1, is present in protein complexes mediating signal transduction including TNF receptor 1. Biallelic loss-of-function variants in RIPK1 were recently reported in individuals with primary immunodeficiency with intestinal bowel disease and arthritis. Here, we report a novel homozygous RIPK1 variant in a boy with immunodeficiency and chronic enteropathy. Our patient exhibited severe motor delay and mild intellectual disability, which were previously unknown. The present results are expected to deepen the current understanding of clinical features based on RIPK1 abnormalities.
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Discapacidades del Desarrollo/genética , Homocigoto , Enfermedades Intestinales/genética , Mutación con Pérdida de Función , Enfermedades de Inmunodeficiencia Primaria/genética , Proteína Serina-Treonina Quinasas de Interacción con Receptores/genética , Transducción de Señal/genética , Niño , Humanos , MasculinoAsunto(s)
Esofagitis Eosinofílica , Hipersensibilidad a la Leche , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Eosinofilia/inmunología , Esofagitis Eosinofílica/inmunología , Esofagitis Eosinofílica/diagnóstico , Esófago/patología , Esófago/inmunología , Estudios de Seguimiento , Hipersensibilidad a la Leche/inmunología , Hipersensibilidad a la Leche/diagnóstico , Hipersensibilidad a la Leche/complicacionesRESUMEN
This study compared the bone parameters of adolescents with persistent cow's milk allergy (CMA) with those of healthy adolescents. Adolescents with CMA had compromised bone parameters (lower bone mineral density, impaired trabecular microarchitecture, and lower bone strength). Partial exclusion diet was associated with better bone parameters than total exclusion diet. BACKGROUND: Persistent immunoglobulin E (IgE)-mediated cow's milk allergy (CMA) may impair bone parameters and increase the risk of fractures. High-resolution peripheral quantitative computed tomography (HR-pQCT) is a novel methodology that not only assesses trabecular and cortical bone compartments and volumetric density measurements, but also evaluates bone microarchitecture and estimates biomechanical properties through finite element analysis (FEA). Both HR-pQCT and bone strength parameters derived from FEA have shown a strong correlation with fracture risk. PURPOSE: To assess the bone density, microarchitecture, and bone strength of adolescents with persistent IgE-mediated CMA (IgE-CMA). METHODS: This was an observational, cross-sectional study with female adolescents with persistent IgE-CMA and healthy control participants matched by female sex and sexual maturation. Bone parameters were assessed by areal bone mineral density (aBMD) through dual-energy X-ray absorptiometry (DXA), bone microarchitecture by HR-pQCT at the radius and tibia, and laboratory markers related to bone metabolism. RESULTS: The median age of adolescents with persistent IgE-CMA (n = 26) was 13.0 years (interquartile range (IQR) 11.4-14.7) and of healthy control participants (n = 28) was 13.6 years (IQR 11.9-14.9). Adolescents with IgE-CMA ingested 27.4% less calcium (p = 0.012) and 28.8% less phosphorus (p = 0.009) than controls. Adolescents with IgE-CMA had lower bone mineral content (BMC) (38.83 g vs. 44.50 g) and aBMD (0.796 g/cm2 vs. 0.872 g/cm2) at lumbar spine, and lower BMC (1.11 kg vs. 1.27 kg) and aBMD (0.823 g/cm2 vs. 0.877 g/cm2) at total body less head (TBLH) (p < 0.05). However, Z-scores BMC and Z-scores aBMD at lumbar spine and TBLH, when adjusted for Z-score height/age, were not significantly different between the groups. Moreover, CMA adolescents had lower bone strength at the distal tibia (S 169 kN/mm vs. 194 kN/mm; F Load 8030 N vs. 9223 N) (p < 0.05). Pairing of groups by the presence of menarche showed compromised parameters at the tibia-lower total volumetric BMD (Tt.vBMD) (293.9 mg HA/cm3 vs. 325.9 mg HA/cm3) and trabecular vBMD (Tb.vBMD) (170.8 mg HA/cm3 vs. 192.2 mg HA/cm3), along with lower cortical thickness (Ct.th) (1.02 mm vs. 1.16 mm) and bone strength (S 174 kN vs. 210 kN; F Load 8301 N vs. 9950 N)-and at the radius (S 61 kN/mm vs. 71 kN/mm; F Load 2920 N vs. 3398 N) (p < 0.05) among adolescents with IgE-CMA. Adolescents with IgE-CMA on a total exclusion diet (n = 12) showed greater impairment of bone features than those on a partial exclusion diet (n = 14), with lower lumbar spine Z-score BMC (- 0.65 vs. 0.18; p = 0.013), lumbar spine trabecular bone score (TBS) (1.268 vs. 1.383; p = 0.005), Z-score TBS (0.03 vs. 1.14; p = 0.020), TBLH Z-score BMC (- 1.17 vs. - 0.35; p = 0.012), TBLH Z-score aBMD (- 1.13 vs. - 0.33; p = 0.027), Tt.vBMD at the tibia (259.0 mg HA/cm3 vs. 298.7 mg HA/cm3; p = 0.021), Ct.th at the tibia (0.77 mm vs. 1.04 mm; p = 0.015) and Ct.th at the radius (0.16 mm vs. 0.56 mm; p = 0.033). CONCLUSION: Adolescents with persistent IgE-CMA had lower aBMD and compromised microarchitecture (impaired trabecular microarchitecture and lower bone strength). Adolescents on a partial exclusion diet had better bone parameters than those on a total exclusion diet.
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Densidad Ósea , Inmunoglobulina E , Hipersensibilidad a la Leche , Humanos , Femenino , Adolescente , Inmunoglobulina E/sangre , Estudios Transversales , Hipersensibilidad a la Leche/fisiopatología , Hipersensibilidad a la Leche/inmunología , Hipersensibilidad a la Leche/diagnóstico por imagen , Niño , Tomografía Computarizada por Rayos X , Absorciometría de Fotón , Estudios de Casos y Controles , Animales , Tibia/diagnóstico por imagen , Tibia/fisiopatologíaRESUMEN
Background: Oral food challenge (OFC) is useful for diagnosing food allergies and assessing tolerance, but severe reactions may occur during the procedure. Objective: To characterize the frequency and severity of reactions during cow's milk (CM) OFCs. Methods: A cross-sectional study was conducted to analyze the outcome of cow's milk oral food challenges (CMOFCs) performed to confirm IgE-mediated CM allergy or to assess food tolerance. CM was given first as baked milk (BM), followed by whole CM if there was no prior reaction to BM. An OFC was considered positive if IgE-mediated symptoms developed up to 2 h after ingestion. Symptoms were described and variables including age at OFC, prior anaphylaxis, other atopic diseases, and skin test results were compared according to the OFC outcomes. Results: A total of 266 CMOFCs were performed, including 159 patients with a median age of 6.3 years old. One hundred thirty-six tests were positive and 62 resulted in anaphylaxis. Thirty-nine anaphylactic reactions were observed up to 30 min after the first dose. Severe anaphylaxis (cardiovascular and/or neurological involvement) was reported in 5 tests. A second dose of epinephrine was required in 3 tests, and 1 presented a biphasic response. Younger patients had a higher risk of anaphylaxis during baked milk oral food challenge (BMOFC) (p = 0.009). The frequency of anaphylaxis was higher in patients submitted to BM (p = 0.009). Conclusions: Anaphylaxis is a known complication of CMOFCs even when there is no prior anaphylaxis or when conducted with baked products. This study reinforces the importance of conducting OFC in appropriate settings with a well-trained team.
RESUMEN
OBJECTIVE: To evaluate idiopathic musculoskeletal pain, musculoskeletal pain syndromes, and use of electronic devices in adolescents with asthma and healthy controls. METHODS: Cross-sectional study was conducted on 150 asthmatic adolescents and 300 controls. Adolescents completed a self-administered questionnaire regarding painful symptoms, use of electronic devices, and physical activity. Seven musculoskeletal pain syndromes were evaluated, and Asthma Control Test (ACT) was assessed. RESULTS: Musculoskeletal pain (42% vs. 61%, pâ¯=â¯0.0002) and musculoskeletal pain syndromes (2.7% vs. 15.7%, pâ¯=â¯0.0006) were significantly lower in asthmatic adolescents than in controls. The frequency of pain in the hands and wrists was reduced in asthmatic than in controls (12.6% vs. 31.1%, pâ¯=â¯0.004), in addition to cell phone use (80% vs. 93%, p < 0.0001), simultaneous use of at least two electronic media (47% vs. 91%, p < 0.0001), myofascial syndrome (0% vs. 7.1%, pâ¯=â¯0.043), and tendinitis (0% vs. 9.2%, pâ¯=â¯0.008). Logistic regression analysis, including asthma with musculoskeletal pain as the dependent variable, and female sex, ACT > 20, simultaneous use of at least two electronic devices, cell phone use, and weekends and weekdays of cell phone use, as independent variables, showed that female sex (odds ratio [OR], 2.06; 95% confidence interval [CI], 1.929-6.316; pâ¯=â¯0.0009) and ACT ≥ 20 (OR, 0.194; 95% CI, 0.039-0.967; pâ¯=â¯0.045) were associated with asthma and musculoskeletal pain (Nagelkerke R2â¯=â¯0.206). CONCLUSIONS: Musculoskeletal pain and musculoskeletal pain syndromes were lower in adolescents with asthma. Female sex was associated with musculoskeletal pain in asthmatic, whereas patients with asthma symptoms and well-controlled disease reported a lower prevalence of musculoskeletal pain.
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Asma , Dolor Musculoesquelético , Enfermedades Reumáticas , Adolescente , Asma/complicaciones , Estudios Transversales , Electrónica , Femenino , Humanos , Dolor Musculoesquelético/epidemiología , Dolor Musculoesquelético/etiología , SíndromeRESUMEN
BACKGROUND: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. OBJECTIVE: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. METHODS: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. RESULTS: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. CONCLUSION: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
FUNDAMENTO: Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar o tratamento, permitindo a inclusão de pacientes na sociedade e reduzindo o custo financeiro dessas doenças. OBJETIVO: A proposta inicial deste estudo foi a triagem citogenética para detectar a síndrome de deleção 22q11.2 (SD22q11.2) em recém-nascidos e crianças com doença cardíaca congênita utilizando a técnica da amplificação multiplex de sondas dependente de ligação (MLPA). Assim, por meio da pesquisa, outras mudanças genômicas foram identificadas nesses pacientes cardíacos. Nosso objetivo se estendeu a investigar essas outras mudanças citogenéticas. MÉTODOS: Investigamos 118 recém-nascidos com doenças cardíacas congênitas nascidos consecutivamente durante um ano, utilizando a técnica da MLPA. RESULTADOS: A técnica da MLPA permitiu a detecção da SD22q11.2 em 10/118 pacientes (8,5%). Outras alterações genômicas foram identificadas em 6/118 pacientes (5%): 1p36 del, 8p23 del (2 casos), 7q dup, 12 dup e 8q24 dup. CONCLUSÃO: Este estudo ressalta a relevância da detecção de alterações genômicas que estão presentes em recém-nascidos e crianças com doenças cardíacas congênitas por meio de ferramentas citogenômicas.
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Síndrome de DiGeorge , Cardiopatías Congénitas , Brasil , Deleción Cromosómica , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Humanos , Lactante , Recién Nacido , Tamizaje Masivo , Reacción en Cadena de la Polimerasa Multiplex/métodosRESUMEN
Case report of a patient with an immunodeficiency who demands regular replacement of intravenous immunoglobulin. She presented an episode of transfusion-related acute lung injury shortly after using an immunoglobulin product different than the one she usually received. The patient evolved with respiratory changes (hypoxia, dyspnea, change in pulmonary auscultation) minutes after the end of the infusion, and received non-invasive respiratory support. She was discharged after 36 hours with good outcome. The patient achieved full recovery, showing no further reactions in subsequent immunoglobulin infusions (no longer receiving the product that was used when she had the episode of transfusion-related acute lung injury). Although rare, this reaction is potentially serious and has no specific treatment other than supportive therapy. The literature is scarce regarding the risk of recurrence. The decision on whether to proceed with immunoglobulin therapy after this adverse effect should be analyzed individually, assessing the possible risks and benefits for the patient.
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Síndromes de Inmunodeficiencia , Enfermedades Pulmonares , Lesión Pulmonar Aguda Postransfusional , Adulto , Anciano , Femenino , Humanos , Inmunoglobulinas Intravenosas/efectos adversos , Infusiones Intravenosas , Masculino , Persona de Mediana EdadRESUMEN
Yellow fever vaccine (YFV) is recommended in endemic areas but represents a risk for egg-allergic patients, as it is cultivated in embryonated eggs. This study aims to describe the outcomes of yellow fever vaccination in patients with confirmed egg allergy (EA). Methods:A prospective study was conducted from January 2018 to September 2019. EA was diagnosed through positive oral food challenge (OFC), recent history of anaphylaxis following egg contact (anaphylaxis in the last 6 months) or immediate allergic reaction in the last 2 months with positive specific IgE. A skinprick test (SPT) with YFV was performed. If the SPT was negative, an intradermal test (ID) was performed at a 1:100 dilution. If the ID was negative, a full dose of YFV was administered. If the skin prick test or ID were positive, the YFV was administered using a graded dosing protocol. Results: It was included 58 patients with confirmed egg allergy (36 M:22F), with a median age of 2.3 years (0.7-13.9 y/o). Forty-two patients had a positive OFC. Nine reported recent anaphylaxis. The other 7 had reactions in the last 2 months with positive specific IgE. During OFC, 15 presented anaphylaxis, while the other 27 presented hives and/or angioedema or vomiting. SPT with YFV was negative in all patients. ID was negative in 48 patients who uneventfully received a full dose of YFV. Ten patients had a positive ID and received YFV in graded doses. Six patients presented a mild reaction controlled with antihistamines, and 4 patients received the vaccine without reactions. Positive ID was significantly related to the vaccine reaction (p < 0.0001). Administration of YFV using a specific protocol was safe even in anaphylactic patients. However, we recommend performing the ID, which can help predict a higher risk of vaccine reaction. An appropriate setting is required to control adverse events.
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Hipersensibilidad al Huevo , Vacunas , Vacuna contra la Fiebre Amarilla , Fiebre Amarilla , Preescolar , Huevos , Humanos , Estudios Prospectivos , Pruebas Cutáneas , Fiebre Amarilla/prevención & control , Vacuna contra la Fiebre Amarilla/efectos adversosRESUMEN
OBJECTIVE: To assess demographic data and characteristics of children and adolescents with pediatric chronic diseases (PCD), according to the number of specialties/patient. METHODS: We performed a cross-sectional study with 16,237 PCD patients at outpatient clinics in one year. Data were analyzed by an electronic data system, according to the number of physician appointments for PCD. This study assessed: demographic data, follow-up characteristics, types of medical specialty, diagnosis (International Statistical Classification of Diseases and Related Health Problems - ICD-10), number of day hospital clinic visits, and acute complications. RESULTS: Patients followed by ≥3 specialties simultaneously showed a significantly higher duration of follow-up compared to those followed by ≤2 specialties [2.1 (0.4-16.4) vs. 1.4 (0.1-16.2) years; p<0.001] and a higher number of appointments in all specialties. The most prevalent medical areas in patients followed by ≥3 specialties were: Psychiatry (Odds Ratio - OR=8.0; confidence interval of 95% - 95%CI 6-10.7; p<0.001), Palliative/Pain Care (OR=7.4; 95%CI 5.7-9.7; p<0.001), Infectious Disease (OR=7.0; 95%CI 6.4-7.8; p<0.001) and Nutrology (OR=6.9; 95%CI 5.6-8.4; p<0.001). Logistic regressions demonstrated that PCD patients followed by ≥3 specialties were associated with high risk for: number of appointments/patient (OR=9.2; 95%CI 8.0-10.5; p<0.001), day hospital clinic visits (OR=4.8; 95%CI 3.8-5.9; p<0.001), emergency department visits (OR=3.2; 95%CI 2.9-3.5; p<0.001), hospitalizations (OR=3.0; 95%CI 2.7-3.3; p<0.001), intensive care admissions (OR=2.5; 95%CI 2.1-3.0; p<0.001), and deaths (OR=2.8; 95%CI 1.9-4.0; p<0.001). The diagnosis of asthma, obesity, chronic pain, and transplant was significantly higher in patients followed by ≥3 specialties. CONCLUSIONS: The present study showed that PCD patients who required simultaneous care from multiple medical specialties had complex and severe diseases, with specific diagnoses.
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Cuidados Posteriores/tendencias , Atención Ambulatoria/estadística & datos numéricos , Enfermedad Crónica/epidemiología , Medicina/normas , Adolescente , Citas y Horarios , Brasil/epidemiología , Niño , Preescolar , Enfermedades Transmisibles/epidemiología , Cuidados Críticos/estadística & datos numéricos , Estudios Transversales , Muerte , Servicio de Urgencia en Hospital/estadística & datos numéricos , Femenino , Hospitalización/estadística & datos numéricos , Humanos , Lactante , Recién Nacido , Masculino , Medicina/estadística & datos numéricos , Trastornos Nutricionales/epidemiología , Manejo del Dolor/estadística & datos numéricos , Cuidados Paliativos/estadística & datos numéricos , Prevalencia , Psiquiatría/estadística & datos numéricos , Adulto JovenRESUMEN
Introdução: A asma é uma das doenças crônicas mais frequentes na população brasileira. O objetivo deste estudo foi determinar as etiologias, o perfil sociodemográfico e os fatores de risco para óbito entre pacientes com asma internados por síndrome respiratória aguda grave (SRAG) no Brasil entre 2020 e 2022. Métodos: A partir do banco de dados SIVEP-Gripe, incluímos todos os pacientes com idade maior que 5 anos registrados no banco de 01/01/2020 até 21/07/2022, hospitalizados por SRAG, com antecedente de asma e com desfechos conhecidos. Como exposições, foram estudadas a idade, sexo, região de moradia, etnia e agentes etiológicos virais isolados. Os desfechos foram internação em unidade de terapia intensiva, necessidade de ventilação mecânica e óbito. Para calcular a razão de chances entre exposição e desfechos, utilizamos modelos lineares generalizados mistos multinível. Resultados: Foram incluídas na análise 83.452 internações, sendo 14.062 crianças e adolescentes, e 69.390 adultos. A mortalidade aumentou com a idade, indo de 0,6% entre 5-10 anos para 33% nos maiores que 60 anos. Na população pediátrica, morar na região Norte e Nordeste e ter entre 10-20 anos foram associados a maior mortalidade (OR 2,14 IC95% 1,41- 3,24 e OR 3,73 IC95% 2,65-5,26 respectivamente). Quanto aos agentes etiológicos, apenas o SARS-CoV-2 conferiu maior risco de óbito (OR 5,18 IC95% 3,62-7,42). Entre adultos, sexo feminino e etnias não brancas foram protetoras (OR 0,87 IC95% 0,83-0,9 e OR 0,90; IC95% 0,85-0,94 respectivamente) para óbito. Faixas etárias mais avançadas, morar nas regiões Norte e Nordeste e o diagnóstico de COVID-19 foram associados a maior mortalidade. Conclusões: Há importantes vulnerabilidades sociodemográficas nos desfechos das internações de pacientes com asma por SRAG, com maior mortalidade nas regiões Norte-Nordeste, entre adolescentes na faixa etária pediátrica e entre idosos nos adultos. Além disso, destaca-se o protagonismo da COVID-19 entre as infecções associadas a maior mortalidade.
Introduction: Asthma is one of the most common chronic diseases affecting the Brazilian population. We aimed to determine the etiology, sociodemographic profile, and risk factors for death in patients with asthma hospitalized for severe acute respiratory illness (SARI) in Brazil from 2020 to 2022. Methods: We included all patients over 5 years of age registered in the Influenza Epidemiological Surveillance Information System (SIVEP Gripe) database of the Brazilian Ministry of Health from January 1, 2020 to July 21, 2022 hospitalized for SARI. Patients had to have a history of asthma and known outcomes. As exposures, age, sex, region of residence, ethnicity, and viral etiological agent were evaluated. The outcomes measured were admission to an intensive care unit, need for mechanical ventilation, and death. We used multilevel generalized linear mixed models to calculate the odds ratio between exposure and outcomes. Results: A total of 83,452 hospitalizations were included, of which 14,062 were children and adolescents and 69,390 were adults. Mortality increased with age, ranging from 0.6% in those aged 5-10 years to 33% in those over 60 years. In the pediatric population, living in the north and northeast regions (OR 2.14, 95%CI 1.41-3.24) and having between 10-20 years (OR 3.73, 95%CI 2.65-5.26) were associated with higher mortality. As for etiologic agents, only SARS-CoV-2 was associated with a higher risk of death (OR 5.18, 95%CI 3.62-7.42). Among adults, female sex (OR 0.87, 95%CI 0.83-0.9) and non-White ethnicities (OR 0.90, 95%CI 0.85-0.94) were protective factors against death. Older age groups, living in the north and northeast regions, and a diagnosis of COVID-19 were associated with higher mortality. Conclusions: There are important sociodemographic vulnerabilities in the outcomes of patients with asthma hospitalized for SARI, with higher mortality rates in the north and northeast regions, among adolescents in the pediatric age group, and among older adults. Furthermore, COVID-19 was one of the main infections associated with higher mortality.
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Humanos , Niño , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , BrasilRESUMEN
Objetivo: Descrever as manifestações de anafilaxia precoce em lactentes com alergia à proteína do leite de vaca (APLV) e descrever as condutas terapêuticas utilizadas. Método: Estudo observacional transversal retrospectivo que analisou pacientes com APLV atendidos no Instituto da Criança e do Adolescente do Hospital das Clínicas da FMUSP, entre 1990-2015, que apresentaram sintomas de alergia no primeiro ano de vida, com diagnóstico de anafilaxia, comparados a pacientes alérgicos sem anafilaxia desencadeada por ingestão de leite de vaca. Os pacientes foram caracterizados de maneira epidemiológica, tipo de sintoma apresentado e tratamento realizado. Os dados foram analisados no programa estatístico GraphPad Software Inc. Para avaliar a associação entre categorias, foi utilizado o Teste Exato de Fisher, e para comparações entre grupos, o Teste de Mann Whitney. Os resultados de p < 0,05 foram considerados significativos. Resultados: De um total de 120 crianças avaliadas (68 M:52 F), 85 (70,83%) lactentes preencheram os critérios da World Allergy Organization (WAO) para anafilaxia. As manifestações de alergia IgE mediada foram prioritariamente cutâneas [102 (85%)]. Nos pacientes com diagnóstico de anafilaxia, as principais manifestações foram urticária [39 (45,8%)], vômito [36 (42,3%)] e dispneia [19 (22,3%)]. A recorrência do episódio de anafilaxia ocorreu em 41 (34,16%) pacientes. A adrenalina (45%) e o anti-histamínico (63,3%) foram os medicamentos mais utilizados. Observa-se também que 6 (7%) pacientes com diagnóstico de anafilaxia não receberam nenhum tratamento. Conclusão: Anafilaxia no primeiro ano de idade apresenta quadro clínico semelhante aos pacientes mais velhos, mas ainda há elevada taxa de recorrência de episódios e subtratamento. Mais estratégias de educação precisam ser desenvolvidas.
Objective: To describe the early manifestations of anaphylaxis in infants with cow's milk protein allergy (CMPA) and the therapeutic approach. Method: In this cross-sectional observational study, we retrospectively reviewed the medical records of patients with CMPA treated at the Institute for Children and Adolescents of Hospital das Clínicas, University of São Paulo Medical School, from 1990 to 2015. Patients who developed allergic symptoms during the first year of life and had a diagnosis of anaphylaxis were compared with allergic patients without anaphylaxis triggered by cow's milk. Patients were characterized according to epidemiological features, type of symptoms, and treatment received. Data were analyzed using GraphPad software. Associations between categories were assessed by Fisher's exact test, and groups were compared by the Mann-Whitney test. Results with p<0.05 were considered statistically significant. Results: Of 120 infants evaluated (68 male: 52 female), 85 (70.83%) met the World Allergy Organization criteria for anaphylaxis. Most infants had cutaneous manifestations of immunoglobulin E (IgE)-mediated allergy (n=102, 85%). In those with a diagnosis of anaphylaxis, the main manifestations were urticaria (n=39, 45.8%), vomiting (n=36, 42.3%), and dyspnea (n=19, 22.3%). Anaphylaxis recurred in 41 patients (34.16%). Epinephrine (45%) and antihistamines (63.3%) were the most used drugs. Six patients (7%) with a diagnosis of anaphylaxis received no treatment. Conclusion: Anaphylaxis during the first year of life showed clinical features similar to those of older pediatric patients, but the rates of episode recurrence and undertreatment are still high. More education strategies need to be developed.
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Humanos , LactanteRESUMEN
Resumo Fundamento Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar o tratamento, permitindo a inclusão de pacientes na sociedade e reduzindo o custo financeiro dessas doenças. Objetivo A proposta inicial deste estudo foi a triagem citogenética para detectar a síndrome de deleção 22q11.2 (SD22q11.2) em recém-nascidos e crianças com doença cardíaca congênita utilizando a técnica da amplificação multiplex de sondas dependente de ligação (MLPA). Assim, por meio da pesquisa, outras mudanças genômicas foram identificadas nesses pacientes cardíacos. Nosso objetivo se estendeu a investigar essas outras mudanças citogenéticas. Métodos Investigamos 118 recém-nascidos com doenças cardíacas congênitas nascidos consecutivamente durante um ano, utilizando a técnica da MLPA. Resultados A técnica da MLPA permitiu a detecção da SD22q11.2 em 10/118 pacientes (8,5%). Outras alterações genômicas foram identificadas em 6/118 pacientes (5%): 1p36 del, 8p23 del (2 casos), 7q dup, 12 dup e 8q24 dup. Conclusão Este estudo ressalta a relevância da detecção de alterações genômicas que estão presentes em recém-nascidos e crianças com doenças cardíacas congênitas por meio de ferramentas citogenômicas.
Abstract Background Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
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Humanos , Recién Nacido , Lactante , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Brasil , Tamizaje Masivo , Deleción Cromosómica , Reacción en Cadena de la Polimerasa Multiplex/métodosRESUMEN
Abstract Objective: To evaluate idiopathic musculoskeletal pain, musculoskeletal pain syndromes, and use of electronic devices in adolescents with asthma and healthy controls. Methods: Cross-sectional study was conducted on 150 asthmatic adolescents and 300 controls. Adolescents completed a self-administered questionnaire regarding painful symptoms, use of electronic devices, and physical activity. Seven musculoskeletal pain syndromes were evaluated, and Asthma Control Test (ACT) was assessed. Results: Musculoskeletal pain (42% vs. 61%, p = 0.0002) and musculoskeletal pain syndromes (2.7% vs. 15.7%, p = 0.0006) were significantly lower in asthmatic adolescents than in controls. The frequency of pain in the hands and wrists was reduced in asthmatic than in controls (12.6% vs. 31.1%, p = 0.004), in addition to cell phone use (80% vs. 93%, p < 0.0001), simultaneous use of at least two electronic media (47% vs. 91%, p < 0.0001), myofascial syndrome (0% vs. 7.1%, p = 0.043), and tendinitis (0% vs. 9.2%, p = 0.008). Logistic regression analysis, including asthma with musculoskeletal pain as the dependent variable, and female sex, ACT > 20, simultaneous use of at least two electronic devices, cell phone use, and weekends and weekdays of cell phone use, as independent variables, showed that female sex (odds ratio [OR], 2.06; 95% confidence interval [CI], 1.929-6.316; p = 0.0009) and ACT ≥ 20 (OR, 0.194; 95% CI, 0.039-0.967; p = 0.045) were associated with asthma and musculoskeletal pain (Nagelkerke R2 = 0.206). Conclusion: Musculoskeletal pain and musculoskeletal pain syndromes were lower in adolescents with asthma. Female sex was associated with musculoskeletal pain in asthmatic, whereas patients with asthma symptoms and well-controlled disease reported a lower prevalence of musculoskeletal pain.
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Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of lung, skin, lymph nodes, and liver are the hallmark of CGD and frequently the initial manifestation of the disease. The aim of the present paper is to describe the sites of infections and their causative agents in 38 pediatric patients with CGD Methods This retrospective, single-center cohort study included CGD patients followed at the allergy and immunology unit of a tertiary hospital in São Paulo, Brazil over the last 40 years. Sites of infections and their causative agents were described. Results Thirty-eight patients were included (36 males). The median age of onset of symptoms was 45 days (ranging from 7 days7 years), and the median age at diagnosis was 23 months (ranging from 1 month12 years). In all, 31.6% of the patients reported a family history of child deaths and 21% (eight cases) had another male family member with CGD. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%); 188 cultures were positive (85.6% bacteria; 14.4% fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in one patient (0.9%). Conclusion Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents found in this cohort. M. tuberculosis should be considered in endemic area. Detection of infectious agents drives to the adequate treatment and benefits the evolution of patients with CGD (AU)
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Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Niño , Enfermedad Granulomatosa Crónica/microbiología , Infecciones por Bacterias Grampositivas/complicaciones , Infecciones por Bacterias Gramnegativas/complicaciones , Micosis , Estudios Retrospectivos , Estudios de Cohortes , BrasilRESUMEN
Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of the lungs, skin, lymph nodes, and liver are the hallmark of CGD with frequent initial manifestations of the disease. The aim of the present study was to describe the sites of infections and their causative agents in 38 CGD pediatric patients. Methods: This was a retrospective single-center cohort study comprising CGD patients, and followed for over last 40 years at the Allergy and Immunology Unit of a tertiary hospital in São Paulo, Brazil. Sites of infections and their causative agents were described. Results: A total of 38 patients were included (36 males and 2 females). Median age at the onset of symptoms was 45 days (7 days7 years) and that at the time of diagnosis was 23 months (1 month12 years); 31.6% of the parents reported death of relatives during childhood and 21% (8 cases) had another male family member with CDG. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%). In all, 188 cultures were positive (85.6% for bacteria and 14.4% for fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in 0.9% (only in 1 patient) of cultures. Conclusion: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents in this cohort. M. tuberculosis should be considered in endemic areas. Detection of infectious agents drives to find adequate treatment and benefits the evolution of patients with CGD (AU)