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Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.
Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.
Assuntos
Humanos , Recém-Nascido , Lactente , Triagem Neonatal , Fibrose Cística/diagnóstico , Erros de Diagnóstico , Diagnóstico Tardio/estatística & dados numéricos , Brasil , Programas Nacionais de SaúdeRESUMO
Abstract Objective: To analyze the performance of the cystic fibrosis (CF) newborn screening (NBS) program over its first five years in a Brazilian northeastern state. Methods: A population-based study using a screening algorithm based on immunoreactive trypsinogen (IRT)/IRT. Data were retrieved from the state referral screening center registry. The program performance was evaluated using descriptive indicators such as the results of an active search, coverage, newborn's age at the time of blood sampling, the time between sample collection and its arrival at the laboratory, and the child's age at diagnosis of disease. Results: The public CF screening program covered 82.6% of the 1,017,576 births that occurred, with an accumulated five-year incidence of 1:20,767 live births. The median (25th-75th) age at diagnosis was 3.5 (2.3-7.3) months. The sampling before 7 days of life for the first IRT (IRT1) increased between 2013 and 2017 from 42.2 to 48.3%. Around 5% of IRT1 samples and 30% of the second samples were collected after 30 days of life. In the first and second stages of screening, 23.6% and 19.9% of the infants, respectively, were lost to follow-up. In both stages of screening, the samples were retained at the health units for a median (25th-75th) of 9.0 (7.0-13.0) days. Conclusions: The coverage by the CF-NBS program was satisfactory as compared to other Brazilian state rates and the percentage of IRT1 samples collected within the first week of life increased progressively. However, time of samples retention at the health units, inappropriate sampling, inherent methodological problems, and loss of follow-up need to improve.
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Abstract Introduction: Traumatic brain injury can impair the central auditory pathways and auditory cortex. Hence, individuals who suffered a traumatic brain injury may be at risk of central auditory processing disorders, which can be identified with behavioral tests that assess central auditory function. Objective: To characterize and compare the performance of children and adolescents with and without a history of traumatic brain injury in behavioral tests that assess central auditory processing. Method: The sample comprised 8- to 18-year-old individuals of both sexes who suffered moderate or severe closed traumatic brain injury 3 to 24 months before their participation in the study and whose hearing thresholds were normal. These individuals were matched for sex and age with other subjects without a history of traumatic brain injury and submitted to behavioral assessment of the central auditory processing with special tests to assess hearing skills (namely, auditory closure, figure-ground, and temporal processing), selected according to their chronological age and response-ability. Results: The study group performed statistically worse than the comparison group in auditory closure, figure-ground in verbal dichotic listening, and temporal ordering. The central auditory processing tests with abnormal results in the comparison group were different from those in the study group. Conclusion: Central auditory processing disorders were identified in all subjects of the study group, especially involving auditory closure and temporal processing skills, in comparison with subjects without a history of traumatic brain injury.
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ABSTRACT A cross-sectional study based on the Self Determination Theory to identify intrinsic motivation in the tutorial group scenario, and its associated factors in 276 medical students from a college in the Northeast of Brazil between October and December 2016. The Intrinsic Motivation Inventory was utilized following its adaptation and cross-cultural translation. Variables studied: age, gender, marital status, financial dependents, number of attempts at the university entrance exam for the medical course, current semester of study, previous undergraduate training, living with parents, choice of course by parental influence or pressure. Uni and multivariate Poisson analysis were carried out to assess the factors associated with intrinsic motivation; p <0.05 was considered as the significance level for statistical purposes. Average motivation score was 3.8, which indicates motivation. In 2 nd , 6 th and 10 th semester medicine students, the final model maintained as the variable associated with intrinsic motivation those who attempted the medical school entrance exam once or twice compared to those who had had three or more attempts (PR = 0.88, 95% CI (0.79-0.97), p = 0.011). In the analyses assessed by semester, in the second semester, students who had prior undergraduate training before medical school compared to those who had not was the remaining variable (PR = 0.92, 95% IC (0.87-0.97), p = 0.005). In the sixth semester, no statistically significant difference was found, and in the tenth semester the variable of those who attempted the medical school entrance exam once or twice remained (PR = 0.65, 95% IC (0.47-0.88), p = 0.006). The students seemed to be motivated in the group tutorial activity. The fewer number of medical school entry exam attempts and having previous undergraduate training were variables that showed association with intrinsic motivation.
RESUMO Estudo transversal baseado na Teoria da Autodeterminação para identificar a motivação intrínseca no cenário do grupo tutorial e seus fatores associados em 276 estudantes de Medicina de uma faculdade do Nordeste do Brasil entre outubro e dezembro de 2016, tendo sido utilizado o Inventário de Motivação Intrínseca, após sua tradução e adaptação transcultural. Variáveis estudadas: idade, sexo, estado civil, dependentes financeiros, número de tentativas no vestibular para ingresso no curso de Medicina, período em curso, graduação anterior, residência com os pais, escolha do curso por influência ou por pressão dos pais. Realizadas análises uni- e multivariada de Poisson para analisar os fatores associados à motivação intrínseca, foi considerado como nível de significância para fins estatísticos o valor p<0,05. O escore médio da motivação foi de 3,8, indicando motivação. Em estudantes do segundo, sexto e décimo períodos do curso de Medicina, permaneceram no modelo final como variável associada à motivação intrínseca aqueles que haviam realizado uma ou duas tentativas no vestibular, quando comparados aos estudantes que tinham realizado três ou mais tentativas (RP=0,88; IC95%(0,79-0,97); p = 0,011). Nas análises discriminadas por período, no segundo período, permaneceram no modelo final os estudantes que possuíam graduação anterior ao curso de Medicina, quando comparados aos que não possuíam (RP=0,92; IC95% (0,87-0,97); p = 0,005). No sexto período, nenhuma diferença estatisticamente significante foi encontrada; e no décimo período, a variável de ter realizado uma ou duas tentativas no vestibular (RP=0,65; IC95% (0,47-0,88); p = 0,006). Os estudantes se mostraram motivados na atividade do grupo tutorial. O menor número de tentativas no vestibular para ingresso no curso de Medicina e possuir graduação anterior foram variáveis que se mostraram associadas à motivação intrínseca.
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RESUMO A Síndrome da Deiscência do Canal Semicircular Superior (SDCSS) é caracterizada pelo desgaste da camada óssea que recobre o canal semicircular superior. São sintomas comuns da SDCSS a presença de vertigem associada à nistagmos induzidos por estímulos sonoros intensos ou por modificações das pressões intracraniana ou da orelha média. O objetivo deste trabalho é descrever os achados audiólogicos e vestibulares de dois pacientes com diagnóstico de Síndrome da Deiscência do Canal Semicircular Superior, com diagnóstico confirmado por meio de tomografia computadorizada. Foram realizadas meatoscopia, anamnese, audiometria tonal e vocal seguida das medidas de imitância acústica, Weber audiométrico, pesquisa do fenômeno de Túlio e manobra de Valsalva, realizados pela mesma pesquisadora em uma única sessão. Foram observados gap aéreo-ósseo, curva timpanométrica tipo A e reflexos acústicos presentes. O gap aéreo-ósseo apresenta-se com maior amplitude nas frequências baixas. As queixas auditivas não foram relatadas pelas pacientes como os primeiros sintomas. O Weber mostrou lateralização, nos dois casos, confirmando a presença de gap. O fenômeno de Túlio apresentou-se positivo para vertigem em ambos os casos. A manobra de Valsalva apresentou alteração em apenas um caso.
ABSTRACT The Superior Semicircular Canal Dehiscence Syndrome (SSCDS) is characterized by bone wear layer overlying the superior semicircular canal. Common symptoms of SSCDS the presence of vertigo associated with nystagmus induced by intense sound stimuli or changes in intracranial pressure or middle ear. The aim of this study is to describe the audiological and vestibular findings of two patients diagnosed with Superior Semicircular Canal Deiscence Syndrome, with confirmed diagnosis by computed tomography. Meatoscopy, anamnesis, pure tone audiometry and vocal followed by the acoustic impedance measurements, audiometric Weber, research Tulio phenomenon and Valsalva maneuver, performed by the same researcher in one session were held. Air-bone gap were observed, type A tympanometric curve and acoustic reflex. The air-bone gap is presented with greater amplitude at low frequencies. Hearing complaints were not reported by patients as the first symptoms. Weber showed lateralization in both cases, confirming the presence of gap. The Thulium phenomenon is positive for vertigo in both cases. The Valsalva maneuver showed a change in only one case.
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La hipertensión pulmonar (HTP) es un trastorno de la adaptación a la vida extrauterina de muchos recién nacidos. La hipoxia y la acidosis son factores desencadenantes y perpetuadores de la misma. Objetivos: evaluar el efecto del óxido nítrico inhalado (ONi) a la respuesta vascular pulmonar a la hipoxia y acidosis en cerdos recién nacidos. Material y método: se diseñó una serie de intervenciones experimentales en cerdos recién nacidos, sedados, anestesiados y en asistencia ventilatoria mecánica. El protocolo experimental consistió en inducir hipoxia en forma controlada y progresiva (FiO2 desde 0,21 (basal) hasta 0,14; 0,10 o 0,08, mezclando nitrógeno con aire), entre 6 y 10 minutos, valorando la respuesta hemodinámica. Estabilizada la respuesta a la hipoxia con elevación en meseta de la presión arterial pulmonar (PAP) y sistémica, se administró ONi a 20 ppm. Mediante infusión de HCl 0,1 N i/v se estabilizó el pH en diferentes valores en los cuales se reiteraron esta serie de experimentos. Resultados: se encontró que el descenso de la FiO2 (debajo de 0,21) produce una caída de la saturación y un aumento inmediato de la PAP a diferentes pH y una efectividad del ONi para descender la PAP próximo a 70%. Sin embargo a pH más bajo la existencia de acidosis genera un nivel basal de PAP elevado con respecto a pH 7,4, que el ONi no desciende. En cuanto a la HTP desarrollada ante diferentes FiO2 se confirmó que la elevación de la PAP es gradualmente más elevada. Conclusión: en la investigación experimental en cerdos recién nacidos se observa que los eventos hipóxicos de breve duración generan HTP e inestabilidad sobre la hemodinamia sistémica. De igual modo la acidosis induce un incremento en la PAP basal en este modelo experimental. En estas condiciones la aplicación de ONi desciende la PAP eficazmente sin alterar la hemodinamia sistémica. Es más efectiva su acción a pH normal que en acidosis.
Pulmonary hypertension (HTP) is a frequently pathological situation of maladaptation to the extratuerine life in newborns. Hypoxia and acidosis are key factors capable of evoking the referred situation and can also act as a perpetuator factor of it. Objectives: To evaluate the effect of inhaled nitric oxide (iNO) on pulmonary vascular response to hypoxia and acidosis in newborn pigs. Material and methods: we performed a series of experimental interventions in newborn pigs, sedated, anesthetized and mechanical ventilation. The experimental protocol was to induce hypoxia in a controlled and progressive (FiO2 from 0.21 (baseline) to 0.14, 0.10 or 0.08, mixing nitrogen with air), between 6 and 10 minutes, evaluating the hemodynamic response. Stabilized response to hypoxia plateau elevation in pulmonary artery pressure (PAP) and systemic administered iNO at 20 ppm. By infusión of HC1 0.1 N i/v was stable at different pH valúes which were reiterated in this series of experiments. Results: we found that the decrease in FiO2 (below 0,21) produces a fall in saturation and an immediate increase in PAP at different pH and an ERA of iNO for the PAP down near 70%. However, at lower pH, the presence of acidosis produces a basal level of PAP high relative to pH 7.4, which does not descend iNO. As PH developed at different FiO2 was confirmed that the elevation of the PAP is gradually higher. Conclusion: experimental research in newborn pigs shows that the short-term hypoxic events genérate HTP and instability on systemic hemodynamics. Similarly acidosis induces an increase in baseline PAP in this experimental model. Under these conditions the application of iNO decreases the PAP effectively without altering systemic hemodynamics. Its action is more effective than normal pH in acidosis.
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La hipertensión pulmonar (HTP) es un trastorno de la adaptación a la vida extrauterina de muchos recién nacidos. La hipoxia y la acidosis son factores desencadenantes y perpetuadores de la misma. Objetivos: evaluar el efecto del óxido nítrico inhalado (ONi) a la respuesta vascular pulmonar a la hipoxia y acidosis en cerdos recién nacidos. Material y método: se diseñó una serie de intervenciones experimentales en cerdos recién nacidos, sedados, anestesiados y en asistencia ventilatoria mecánica. El protocolo experimental consistió en inducir hipoxia en forma controlada y progresiva (FiO2 desde 0,21 (basal) hasta 0,14; 0,10 o 0,08, mezclando nitrógeno con aire), entre 6 y 10 minutos, valorando la respuesta hemodinámica. Estabilizada la respuesta a la hipoxia con elevación en meseta de la presión arterial pulmonar (PAP) y sistémica, se administró ONi a 20 ppm. Mediante infusión de HCl 0,1 N i/v se estabilizó el pH en diferentes valores en los cuales se reiteraron esta serie de experimentos. Resultados: se encontró que el descenso de la FiO2 (debajo de 0,21) produce una caída de la saturación y un aumento inmediato de la PAP a diferentes pH y una efectividad del ONi para descender la PAP próximo a 70%. Sin embargo a pH más bajo la existencia de acidosis genera un nivel basal de PAP elevado con respecto a pH 7,4, que el ONi no desciende. En cuanto a la HTP desarrollada ante diferentes FiO2 se confirmó que la elevación de la PAP es gradualmente más elevada. Conclusión: en la investigación experimental en cerdos recién nacidos se observa que los eventos hipóxicos de breve duración generan HTP e inestabilidad sobre la hemodinamia sistémica. De igual modo la acidosis induce un incremento en la PAP basal en este modelo experimental. En estas condiciones la aplicación de ONi desciende la PAP eficazmente sin alterar la hemodinamia sistémica. Es más efectiva su acción a pH normal que en acidosis.
Pulmonary hypertension (HTP) is a frequently pathological situation of maladaptation to the extratuerine life in newborns. Hypoxia and acidosis are key factors capable of evoking the referred situation and can also act as a perpetuator factor of it. Objectives: To evaluate the effect of inhaled nitric oxide (iNO) on pulmonary vascular response to hypoxia and acidosis in newborn pigs. Material and methods: we performed a series of experimental interventions in newborn pigs, sedated, anesthetized and mechanical ventilation. The experimental protocol was to induce hypoxia in a controlled and progressive (FiO2 from 0.21 (baseline) to 0.14, 0.10 or 0.08, mixing nitrogen with air), between 6 and 10 minutes, evaluating the hemodynamic response. Stabilized response to hypoxia plateau elevation in pulmonary artery pressure (PAP) and systemic administered iNO at 20 ppm. By infusion of HCl 0.1 N i/v was stable at different pH values which were reiterated in this series of experiments. Results: we found that the decrease in FiO2 (below 0,21) produces a fall in saturation and an immediate increase in PAP at different pH and an ERA of iNO for the PAP down near 70%. However, at lower pH, the presence of acidosis produces a basal level of PAP high relative to pH 7.4, which does not descend iNO. As PH developed at different FiO2 was confirmed that the elevation of the PAP is gradually higher.Conclusion: experimental research in newborn pigs shows that the short-term hypoxic events generate HTP and instability on systemic hemodynamics. Similarly acidosis induces an increase in baseline PAP in this experimental model. Under these conditions the application of iNO decreases the PAP effectively without altering systemic hemodynamics...
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Animais , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/terapia , Óxido Nítrico/uso terapêutico , Animais Recém-Nascidos , Acidose/complicações , Anorexia/complicaçõesRESUMO
Se realizó un estudio durante los años 2002, 2003 y 2004, con el fin de determinar la composición, la abundancia, riqueza, diversidad, equidad, ocurrencia y fluctuación temporal de las especies de saltahojas en tres zonas productoras de café de Costa Rica. Se utilizaron trampas amarillas pegajosas para clasificar y cuantificar el número de saltahojas adultos durante el período de muestreo. Se encontró un total de 82.500 individuos, pertenecientes a 139 especies ubicadas dentro de nueve subfamilias. San Isidro de León Cortés presentó la mayor diversidad entre los sitios estudiados. Veinticinco especies se encontraron frecuentemente en al menos uno de los sitios muestreados, y solamente Coelidiana sp.1, Osbornellus sp.1, Scaphytopius sp.1 y Empoasca sp. se capturaron a lo largo de todo el período de estudio. La fluctuación temporal de los taxa que comprenden los principales vectores de X. fastidiosa Wells et al. mostró diferencias entre las zonas estudiadas.
A survey was conducted during 2002, 2003 and 2004 to determine the leafhopper species composition, abundance, richness, diversity, evenness, occurrence and flight activity among three coffee production zones of Costa Rica. Yellow sticky traps were used to qualify and quantify the number of aerial leafhoppers during the sampling period. A total of 82,500 individuals, belonging to 139 species within nine leafhopper subfamilies, were trapped. San Isidro de León Cortés site presented the highest diversity from the three surveyed sites. Twenty five species were frequently trapped at least in one of the studied zones, and only Coelidiana sp.1, Osbornellus sp.1, Scaphytopius sp.1 and Empoasca sp. were trapped throughout the sampling period. The flight activity of the taxa that contain the main vectors of Xylella fastidiosa Wells et al. showed differences among the sampling zones.
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Animais , Café , Hemípteros/classificação , Costa Rica , Café/microbiologia , Café/parasitologia , Produtos Agrícolas/microbiologia , Produtos Agrícolas/parasitologia , Voo Animal , Hemípteros/microbiologia , Densidade Demográfica , Doenças das Plantas/microbiologia , Doenças das Plantas/parasitologia , Especificidade da Espécie , XylellaRESUMO
El propósito de este trabajo es estudiar la evolución de la succión nutritiva con la finalidad de conocer la asociación de variables relacionadas con la succión que permitan una evaluación objetiva de la misma. Es un estudio longitudinal, prospectivo en dos grupos de niños. Un grupo de nacidos de término con peso adecuado al nacer, seguidos desde el primer día hasta los seis meses de edad. Se midió por doble pesada el volumen de la lactada y se realizó un registro de la presión intraoral.
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Recém-Nascido , Aleitamento Materno , Comportamento de Sucção/classificação , Lactação , Sucção/métodosRESUMO
El propósito de este trabajo es estudiar la evolución de la succión nutritiva con la finalidad de conocer la asociación de variables relacionadas con la succión que permitan una evaluación objetiva de la misma. Es un estudio longitudinal, prospectivo en dos grupos de niños. Un grupo de nacidos de término con peso adecuado al nacer, seguidos desde el primer día hasta los seis meses de edad. Se midió por doble pesada el volumen de la lactada y se realizó un registro de la presión intraoral. El mismo se realizó colocando un catéter conectado a un transducer unido al pezón. A través de este registro se analizó el número de salvas, de succiones, el tiempo de pausas y la presión intraoral. Se realizaron 169 registros. El volumen de leche transferida al niño durante la succión tiene un incremento inicial importante de 0,07 a 0,2 ml en los primeros 7 a 75 días, luego aumenta más lentamente hasta los 60-90 días, posteriormente el aumento es más lento. Se plantea la hipótesis de que el flujo de leche materno es el responsable del primer incremento; luego el niño tiene salvas más largas y menos tiempo de pausas, lo que sería responsable del aumento de esta segunda etapa. Finalmente el número de succiones y el permanente aumento de presión intraoral son responsables del incremento final. Los nacidos de pretérmino se estudiaron entre las 33 y 41 semanas, se usó el mismo precedimiento que para el grupo anterior en su alimentación a pecho y cuando se alimentaron con biberón se empleó una tetina con dos orificios: en uno se colocó un catéter unido a un transducer y el otro se utilizó para la salida de la leche con un gasto/minuto de 21 ml. Extraen más leche por biberón hasta las 34 semanas, luego la transferencia aumenta en ambos pero no has diferencia significativa. Se concluye que el registro de variables objetivas como la presión intraoral y la doble pesada permiten obtener información que ayuda a conocer mejor la evolución de la succión a pecho y a formular nuevas estrategias para el mantenimiento de una lactancia eficaz.
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Humanos , Recém-Nascido , Lactente , Aleitamento Materno , Ejeção Láctea/fisiologia , Comportamento de Sucção , Recém-Nascido PrematuroRESUMO
A survey of homopteran species (Auchenorryncha) was conducted in coffee plantations with no shade (C), and in those with shade of either poró (Erythrina poeppigiana) (CP) or poró plus laurel (Cordia alliodora) (CPL), in Turrialba, Costa Rica. A total of 130 species in ten families were collected, dominated by Cicadellidae (82 species). Species richness was highest in the CP system (88), followed by CPL (74) and C systems (60). Five most common species for all systems were Fusigonalia lativittata, Hebralebra nicaraguensis, Neocoelidia sp., Oliarus sp. and Clastoptera sp. Diversification of the coffee agroecosystem favors some species while limiting others, and have no effect on the majority of species. Thus, only F. lativittata, Neocoelidia sp. and Scaphytopius ca. latidens were well represented in all systems, but were more abundant in coffee shrubs. Additionally, the following were the dominant species in each system: Graphocephala sp. 1 (C), F. lativittata (CP) and H. nicaraguensis (CPL). Four species abundant on laurel trees, including H. nicaraguensis, appeared almost exclusively on these tree species. Species similarity was highest on the CP and CPL systems (51 of the species in common), followed by the C and CP (39) and the C and CPL systems (38). These findings show that even disturbed systems can harbor many insect species, so that they deserve attention from conservation advocates and biologists.