Functional Gastrointestinal Disorders in Neonates and Toddlers According to the Rome IV Criteria: A Systematic Review and Meta-Analysis.

Functional gastrointestinal disorders (FGIDs) are classified as a combination of persistent gastrointestinal symptoms. The Rome IV criteria can elucidate several factors in the pathogenesis of FGIDs. The frequency of FGIDs can differ between clinical and nonclinical settings and between geographic regions. To determine the global prevalence of FGIDs in neonates and toddlers according to the Rome IV criteria. We included cohort and descriptive observational studies reporting the prevalence of FGIDs according to the Rome IV criteria in children aged 0-48 months. We searched the Medline, Embase, Lilacs, and CENTRAL databases from May 2016 to the present day. Furthermore, unpublished literature was searched to supplement this information. The Strengthening the Reporting of Observational Studies in Epidemiology statement was used to evaluate the risk of bias. A meta-analysis of the proportions was performed using MetaProp in R. The results are reported in forest plots. We identified and analyzed 15 studies comprising 48,325 participants. Six studies were conducted in Europe, three in Latin America, two in North America, and four in Asia. Most participants were 12-48 months old (61.0%) and were recruited from the community. The global prevalence of FGIDs was 22.0% (95% confidence interval, 15-31%). The most common disorder was functional constipation (9.0%), followed by infant regurgitation syndrome (8.0%). Its prevalence was higher in the Americas (28.0%). FGIDs, as defined by the Rome IV criteria, are present in 22% of children, and the most common primary disorder is functional constipation. A higher prevalence of FGIDs has been reported in America.

Caracterización de pacientes con prescripción de losartán en dosis superior a la dosis máxima diaria, su problemática e intervención

Introducción: La hipertensión arterial es una de las enfermedades con mayor preva-lencia en nuestro país. La prescripción de antagonistas del receptor de angiotensina tipo II, es uno los tratamientos más comunes; sin embargo, su dosis máxima efectiva es controversial. Objetivo: El objetivo del estudio fue caracterizar una población de una entidad promotora de salud en Colombia, que recibía para el manejo de la hipertensión arterial, una dosis de losartán mayor a 100 mg/día. Metodología: Se incluyó una base de prescripción de 3816 casos con hipertensión arterial, en manejo con losartán potásico a dosis superiores a 100 mg/día, con una muestra proporcional de 300 casos; en quienes se aplicó una alerta de dosis máxima (100 mg/día) en la prescripción. Se describió el perfil farmacoterapéutico, interacciones farmacológicas, cambios de dosificación y en las cifras de presión arterial. Para confirmar el efecto terapéutico de losartán potásico en control de cifras de presión arterial, se realizaron pruebas estadísticas (Tukey, Bonferroni). Resultados: De los 300 pacientes, 224 (74,6%) contaban con registro de presión arterial al inicio de la prescripción de losartán potásico a 100 mg/día; después de la intervención se logró reducción de dosis en 70 casos (23,3%). 76 casos (25,3%) no contaban con ningún paraclínico de seguimiento. Conclusión: No se encontró evidencia clínica o científica que justifique la prescripción de losartán con dosis mayores a 100 mg/día para el manejo de la hipertensión arterial esencial en nuestra población descrita.

SUMMARY Introduction: Hypertension is one of the most prevalent diseases in our country. Type II angiotensin receptor antagonists are one of the most common treatments; however, its maximum effective dose is controversial. Aim: The objective of study to characterize a population of a health promoting entity in Colombia, which received a dose of losartan greater than 100 mg/day for management of arterial hypertension. Methodology: The study included a prescription base of 3816 cases with arterial hypertension, in management with losartan potassium at doses higher than 100 mg/day, with a proportional sample of 300 cases; in whom a maximum dose alert (100 mg/day) was applied in prescription. Pharmacotherapeutic profile, drug interactions, dosage changes, and changes in blood pressure figures were described. To confirm therapeutic effect of losartan potassium in controlling blood pressure figures, statistical tests were performed (Tukey, Bonferroni). Results: Of the 300 patients, 224 (74.6%) had a blood pressure record at beginning of prescription of losartan potassium at 100 mg/day; after the intervention, a dose reduction was achieved in 70 cases (23.3%). 76 cases (25.3%) did not have any follow-up paraclinical. Conclusion: It was concluded that losartan potassium at doses greater than 100 mg/day did not show statistically significant differences for blood pressure control. We found insufficient clinical and scientific evidence to support the treatment with losartan more than 100 mg/day for hypertension in our population.

Introdução: A hipertensão arterial é uma das doenças mais prevalentes em nosso país. Os antagonistas do receptor de angiotensina tipo II são um dos tratamentos mais comuns; entretanto, sua dose máxima efetiva é controversa. Objetivo: Caracterizar uma população de uma entidade promotora de saúde na Colômbia, que receberam uma dose de losartana superior a 100 mg/dia para tratamento de hipertensão. Metodologia: O estudo incluiu uma base de prescrição de 3816 casos com hipertensão arterial, em manejo com losartana potássica em doses maiores superior a 100 mg/ dia, com amostra proporcional de 300 casos; em quem um máximo alerta de dose (100 mg/dia) foi aplicado na prescrição. Perfil farmacoterapêutico, interações medicamentosas, alterações de dosagem e alterações nos valores da pressão arterial foram descrito. Para confirmar o efeito terapêutico da losartana potássica no controle do sangue valores pressóricos, foram realizados testes estatísticos (Tukey, Bonferroni). Resultados: De dos 300 pacientes, 224 (74,6 %) tinham registro de pressão arterial no início da prescrição de losartana potássica a 100 mg/dia; após a intervenção, uma redução da dose foi alcançada em 70 casos (23,3 %). 76 casos (25,3 %) não tiveram seguimento paraclínico. Conclusão: Concluiuse que a losartana potássica em doses maiores superior a 100 mg/dia não apresentou diferenças estatisticamente significativas para a pressão arterial ao controle. Encontramos evidências clínicas e científicas insuficientes para apoiar o tratamento com losartana mais de 100 mg/dia para hipertensão em nossa população.

A SYSTEMATIC REVIEW AND META-ANALYSIS IN SCHOOLCHILDREN AND ADOLESCENTS WITH FUNCTIONAL GASTROINTESTINAL DISORDERS ACCORDING TO ROME IV CRITERIA.

OBJECTIVE: To determine the prevalence of functional gastrointestinal disorders (FGIDs) in children according to Rome IV criteria. METHODS: We included cohorts and observational descriptive studies, including information for the prevalence of FGIDs according to Rome IV criteria in children 4 to 18 years old. We searched the MEDLINE (Ovid), EMBASE, LILACS, and CENTRAL databases from May 2016 to nowadays. Gray literature and other databases were also consulted. The risk of bias was assessed using the STROBE Statement. The results were reported in forest plots of the estimated effects of the included studies with a 95% confidence interval (95%CI). RESULTS: We included 14 studies involving a total of 17427 participants. Three studies were conducted in Europe, two in North America, and nine in Latin America. Most studies were school-based (n=14670, 84.18%), participants were mostly female (55.49%), white (51.73%), 8 to 18 years old (77.64%), and assisted to a public school (81.53%). Thirteen studies used the Questionnaire on Pediatric Gastrointestinal Symptoms (QPGS-RIV) to assess FGIDs. We found a global prevalence for FGIDs of 23% (95%CI 21-25%, I2 99%). Main disorders were functional constipation (FC) with 12% (95%CI 11-15%) followed by functional dyspepsia (FD) (5%, 95%CI 11-15%) and irritable bowel syndrome (IBS) (3%, 95%CI 2-4%). The prevalence of FGIDs was higher in the Americas, representing 23.67% (95%CI 21.2-26.2%, I2 91.3%). CONCLUSION: FGIDs are present in one of four children and adolescents, representing a common condition in this age group the central disorders were FC, FD, and IBS.

Uma revisão sistemática e meta-análise em escolares e adolescentes com Distúrbios gastrointestinais funcionáis de acordo com os critérios de Roma IV / A systematic review and meta-analysis in schoolchildren and adolescents with functional gastrointestinal disorders according to rome iv criteria

ABSTRACT Objective: To determine the prevalence of functional gastrointestinal disorders (FGIDs) in children according to Rome IV criteria. Methods: We included cohorts and observational descriptive studies, including information for the prevalence of FGIDs according to Rome IV criteria in children 4 to 18 years old. We searched the MEDLINE (Ovid), EMBASE, LILACS, and CENTRAL databases from May 2016 to nowadays. Gray literature and other databases were also consulted. The risk of bias was assessed using the STROBE Statement. The results were reported in forest plots of the estimated effects of the included studies with a 95% confidence interval (95%CI). Results: We included 14 studies involving a total of 17427 participants. Three studies were conducted in Europe, two in North America, and nine in Latin America. Most studies were school-based (n=14670, 84.18%), participants were mostly female (55.49%), white (51.73%), 8 to 18 years old (77.64%), and assisted to a public school (81.53%). Thirteen studies used the Questionnaire on Pediatric Gastrointestinal Symptoms (QPGS-RIV) to assess FGIDs. We found a global prevalence for FGIDs of 23% (95%CI 21-25%, I2 99%). Main disorders were functional constipation (FC) with 12% (95%CI 11-15%) followed by functional dyspepsia (FD) (5%, 95%CI 11-15%) and irritable bowel syndrome (IBS) (3%, 95%CI 2-4%). The prevalence of FGIDs was higher in the Americas, representing 23.67% (95%CI 21.2-26.2%, I2 91.3%). Conclusion: FGIDs are present in one of four children and adolescents, representing a common condition in this age group the central disorders were FC, FD, and IBS.

RESUMO Objetivo: Determinar a prevalência de distúrbios gastrointestinais funcionáis (DGF) em crianças de acordo com os critérios de Roma IV. Métodos: Incluímos coortes e estudos observacionais descritivos, incluindo informações para a prevalência de DGF de acordo com os critérios de Roma IV em crianças de 4 a 18 anos. Pesquisamos nas bases de dados MEDLINE (Ovid), EMBASE, LILACS e CENTRAL de maio de 2016 até os dias atuais. A literatura cinzenta e outras bases de dados também foram consultadas. O risco de viés foi avaliado usando a Declaração STROBE. Os resultados foram relatados em parcelas florestais dos efeitos estimados dos estudos incluídos com um intervalo de confiança de 95% (95%IC). Resultados: Foram incluídos 14 estudos envolvendo um total de 17.427 participantes. Três estudos foram realizados na Europa, dois na América do Norte e nove na América Latina. A maioria dos estudos foi de base escolar (n=14.670, 84,18%), os participantes eram em sua maioria do sexo feminino (55,49%), brancos (51,73%), de 8 a 18 anos (77,64%) e atendidos em escola pública (81,53%). Treze estudos usaram o Questionário de Sintomas Gastrointestinais Pediátricos (QPGS-RIV) para avaliar DGF. Encontramos uma prevalência global de DGF de 23% (95%IC 21-25%, I2 99%). Os principais distúrbios foram constipação funcional (CF) com 12% (95%IC 11-15%) seguido de dispepsia funcional (DF) (5%, 95%IC 11-15%) e síndrome do intestino irritável (SII) (3%, 95%IC 2-4%). A prevalência de DGF foi maior nas Américas, representando 23,67% (95%IC 21, 2-26,2%, I2 91,3%). Conclusão: DGF estão presentes em uma de quatro crianças e adolescentes, representando uma condição comum nessa faixa etária. Os distúrbios centrais foram CF, DF e SII.

Síndrome de Cohen diagnosticado con hibridación genómica comparativa por microarreglos / Cohen syndrome diagnosed using microarray comparative genomic hybridization / Síndrome de Cohen diagnosticado com hibridação genômica comparativa por microarranjos

RESUMEN El síndrome de Cohen (SC) es una enfermedad genética rara, con herencia autosómica recesiva. Se origina por daños en el gen VPS13B, locus 8q22-q23. El fenotipo característico consiste en discapacidad intelectual, microcefalia, facies dismórfica, anormalidades oftalmológicas, obesidad central e hipotonía. Solo se han publicado aproximadamente 150 casos, la mayoría de origen finlandés. Reportamos el caso de un preescolar con talla baja, craneosinostosis, facies dismórfica, hipotonía y retraso del desarrollo psicomotor a quien se le diagnosticó SC por medio de Hibridación Genómica Comparativa por microarreglos (HGCm), que mostró una deleción en homocigosis de 0.153 Mb en 8q22.2 incluyendo el gen VPS13B, OMIM #216550. Con esta publicación contribuimos al conocimiento epidemiológico de un síndrome genético infrecuente, y mostramos el aporte de la HGCm al diagnóstico etiológico de pacientes con discapacidad intelectual inexplicada, retardo del desarrollo psicomotor, problemas del lenguaje, autismo y anomalías congénitas múltiples.

SUMMARY Cohen syndrome (CS) is an uncommon autosomal recessive genetic disorder attributed to damage on VPS13B gene, locus 8q22-q23. Characteristic phenotype consists of intelectual disability, microcephaly, facial dysmorphism, ophthalmic abnormalities, truncal obesity and hipotony. Worldwide, around 150 cases have been published, mostly in Finish patients. We report the case of a 3 year-old male, with short height, craniosynostosis, facial dysmorphism, hipotony, and developmental delay. He was diagnosed with Cohen syndrome using Microarray Comparative Genomic Hibridization (aCGH) that showed homozygous deletion of 0.153 Mb on 8q22.2 including VPS13B gene, OMIM #216550. With this report we contribute to enlarge epidemiological databases on an uncommon genetic disorder. Besides, we illustrate on the contribution of aCGH to the etiological diagnosis of patients with unexplained intellectual disability, delayed psychomotor development, language difficulties, autism and multiple congenital anomalies.

RESUMO A síndrome de Cohen (SC) é uma doenças genética rara, com herança autossômica recessiva. Se origina por danos no gene VPS13B, locus 8q22-q23. O fenótipo característico consiste em deficiência intelectual, microcefalia, faces dismórfica, anormalidades oftalmológicas, obesidade central e hipotonia. Só se há publicado aproximadamente 150 casos, a maioria de origem finlandês. Reportamos o caso de um pré-escolar com estatura baixa, craniossinostose, faces dismórfica, hipotonia e retraso do desenvolvimento psicomotor a quem se lhe diagnosticou SC por meio de Hibridação Genômica Comparativa por microarranjos (HGCm), que mostrou uma deleção em homozigoto de 0.153 Mb em 8q22.2 incluindo o gene VPS13B, OMIM #216550. Com esta publicação contribuímos ao conhecimento epidemiológico de uma síndrome genética infrequente, e mostramos o aporte da HGCm ao diagnóstico etiológico de pacientes com deficiência intelectual inexplicada, atraso do desenvolvimento psicomotor, problemas da linguagem, autismo e anomalias congénitas múltiplas.

Cri-du-chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization / Síndrome de cri du chat diagnosticado en mujer de 21 años por hibridación genómica comparativa

Abstract The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size of genetic material loss varies from the 5p15.2 region only to the whole arm. Prevalence rates range between 1:15000 and 1:50000 live births. Diagnosis is suspected on infants with a high-pitched (cat-like) cry, facial dysmorfism, hypotonia and delayed psychomotor development. In adults, phenotypic findings are less specific. It is confirmed through high-resolution G-banding karyotype, fluorescent in situ hybridization or microarray-based comparative genomic hybridization (a-CGH). The following is the case report of a 21-year-old female patient with severe mental retardation and trichotillomania, who does not control sphincters and does not bathe or eat by herself. Her communication is based only on sounds and dysmorphic facies. The G-band karyotype reported is 46, XX. a-CGH shows 18.583Mb interstitial microdeletion in 5p15.33p14.3, including the cri-du-chat critical region. In children or adults with unexplained mental retardation and normal karyotype results (like this case), an a-CGH should be performed to make an etiological diagnosis, establish the prognosis, order additional medical tests and specific treatments, and offer appropriate genetic counseling.

Resumen El síndrome de cri du chat o del maullido de gato es causado por una deleción en el brazo corto del cromosoma 5; el tamaño de la pérdida de material genético varía desde solo la región 5p15.2 hasta el brazo entero. La prevalencia va desde 1 por 15 000 habitantes hasta 1 por 50 000 habitantes. Su diagnóstico se puede confirmar con cariotipo con bandas G de alta resolución, hibridación fluorescente in situ o hibridación genómica comparativa por microarreglos (HGCm); este se sospecha en infantes con un llanto similar al maullido de un gato, fascies dismórficas, hipotonía y retardo del desarrollo psicomotor; sin embargo, en los adultos afectados los hallazgos fenotípicos son menos específicos. Se presenta el caso de una mujer de 21 años con retardo mental severo y tricotilomanía, que no controla esfínteres y no se baña ni come sola; solo emite ruidos y tiene facies dismórficas. El cariotipo de bandas G es reportado 46, XX y la HGCm muestra microdeleción de 18.583Mb en 5p15.33p14.3, incluyendo región crítica de cri du chat. En pacientes de este tipo se debe realizar HGCm para hacer un diagnóstico etiológico, establecer un pronóstico, ordenar pruebas médicas adicionales y tratamientos específicos y realizar la adecuada asesoría genética.