Poligrafía en niños con enfermedad neuromuscular / Polygraphy in children with neuromuscular disease

Introduction: A high prevalence of sleep-disordered breathing (SDB) has been reported in neuromuscular disease (NMD) patients. Our aim was to describe the results of sleep studies performed by overnight polygraphy in pediatric ward of a public hospital from Concepción, Chile. Additionally, we purposed to define its utility in the treatment of children with NMD. Methods: Records of NMD patients admitted at G. Grant Benavente Hospital, from 2011 to 2015 were considered. The therapeutic approaches were classified as: non invasive ventilation, surgical treatment and follow up. Results: From 36 patients initially admitted in the study 5 were excluded. Patients median age was 10 years-old (range: 0.3-19), 74% (n = 23) were males. Diagnosis were: Duchenne muscular dystrophy in 12 patients (39%), Myelomeningocele in 6 (19%), Hypotonic syndrome in 5 (16%), Miopathy in 3 (10%), Spinal muscular atrohpy in 3 (10%) and other NMD in 2 patients (6%). Median of polygraphy valid time was 7.3 h (range:4.3-10.5). Median of mean values of O2 saturation was 97% (range: 91-99%) and median of minimum O2 saturation was 90% (51-95%). Six polygraphies (19%) were normal and 25 (81%) showed some degree of SDB. From this group 60% had a mild, 28% (n = 7) had a moderate and 12% (n = 3) presented a severe SDB. Fifteen patients (65%) were under non invasive ventilation, nine (29%) of them received medical treatment and two of them (6%) surgical treatment. There was no difference between the magnitude of SDB and therapeutic approach. Moreover, no association between the severity of SDB and therapeutic approach was found. Conclusion: Polygraphy allows objective diagnosis of SDB in children with NMD and is a suitable tool to define therapeutic conducts.

Introducción: Los pacientes con enfermedades neuromusculares (ENM) presentan una alta prevalencia de trastornos respiratorios del sueño (TRS). El objetivo de este estudio fue describir los resultados de estudios poligráficos y mostrar su utilidad para el establecimiento de conductas terapéuticas en niños con ENM de un hospital público de Chile. Metodología: Se consideraron registros de PG de niños con ENM. Las conductas terapéuticas fueron clasificadas como: asistencia ventilatoria no invasiva (AVNI), cirugía y observación y seguimiento. Los resultados se expresan en mediana y rango. Los tests de Kruskal-Wallis y χ2 fueron empleados. Fue considerado significativo unp < 0,05. Resultados: Al estudio ingresan 36 pacientes, siendo excluidos 5, la mediana de edad fue 10 años (0,3-19), 74% varones. Diagnósticos: Distrofia neuromuscular de Duchenne 39% (n = 12), Mielomeningocele 19% (n = 6), Síndrome hipotónico 16% (n=5), Miopatia 10% (n = 3), Atrofia espinal 10% (n = 3), otros 6% (n = 2). El tiempo validado de la poligrafía fue 7,3 h (4,3-10,5), la mediana de la saturación de O2 promedio fue 97% (91-99) y de la saturación de O2 mínima 90% (51-95). Las poligrafías fueron normales en 6 pacientes (19%) y sugerentes de TRS en 25 (81%). Entre ellas se consideró SAHOS leve 60% (n = 15), moderado 28% (n = 7) y severo 12% (n = 3). En 20 pacientes (65%) se decidió iniciar AVNI, en 9 (29%) observación y seguimiento y en 2 (6%) tratamiento quirúrgico. No existió asociación entre la categorización de gravedad de SAHOS y conducta terapéutica. Conclusión: La poligrafía permite el diagnóstico objetivo de TRS en niños con ENM y constituye una herramienta útil para determinación de conductas terapéuticas.

Bevacizumab intravítreo como monoterapia de la retinopatía del prematuro en 12 pacientes / Intravitreal bevacizumab as single drug therapy for retinopathy of prematurity in 12 patients

Comunicamos los resultados oftalmológicos en una serie de niños tratados con bevacizumab intravítreo con retinopatía del prematuro (RDP) en etapa umbral. Se evaluaron doce recién nacidos pretérmino de muy bajo peso (RNMBP) que recibieron bevacizumab intravítreo como monoterapia en el tratamiento de la retinopatía del prematuro en etapa umbral y que presentaban contraindicación para la terapia estándar con fotocoagulación con láser. Se realizaron controles oftalmológicos y se evaluó la respuesta al tratamiento, reintervenciones y complicaciones. La edad gestacional de estos pacientes fue 26,3 ± 1,8 semanas y el peso de nacimiento de 845 ± 153 g. Hubo buena respuesta en ocho casos, mientras que cuatro pacientes requirieron reintervención con fotocoagulación con láser. No se detectaron complicaciones inmediatas y no hubo pacientes fallecidos.

Ophthalmological outcomes in a series of children with retinopathy of prematurity (ROP) in the threshold stage treated with intravitreal bevacizumab are reported. Twelve very low birth weight (VLBW) preterm infants who were administered intravitreal bevacizumab as monotherapy for retinopathy of prematurity in the threshold stage and in whom standard laser photocoagulation therapy was contraindicated were evaluated. Ophthalmological examinations were carried out and response to treatment, second interventions, and complications were evaluated. The gestational age of these patients was 26.3 ± 1.8 weeks and their birth weight was 845 ± 153 g. A good response was observed in eight cases, while four patients required to be reintervened with laser photocoagulation. No immediate complications were detected and there were no deaths.

Intravitreal bevacizumab as single drug therapy for retinopathy of prematurity in 12 patients.

Ophthalmological outcomes in a series of children with retinopathy of prematurity (ROP) in the threshold stage treated with intravitreal bevacizumab are reported. Twelve very low birth weight (VLBW) preterm infants who were administered intravitreal bevacizumab as monotherapy for retinopathy of prematurity in the threshold stage and in whom standard laser photocoagulation therapy was contraindicated were evaluated. Ophthalmological examinations were carried out and response to treatment, second interventions, and complications were evaluated. The gestational age of these patients was 26.3 ± 1.8 weeks and their birth weight was 845 ± 153 g. A good response was observed in eight cases, while four patients required to be reintervened with laser photocoagulation. No immediate complications were detected and there were no deaths.

Caracterización de recién nacidos reanimados durante el año 2011 en el Hospital Clínico Regional de Concepción / Characterization of neonatal resuscitation during 2011 at Regional Clinical Hospital of Concepcion

INTRODUCCIÓN: La asfixia es responsable del 19 por ciento de las muertes neonatales que ocurren en el mundo. La reanimación neonatal disminuye la mortalidad en estos Recién Nacidos (RN). 10 por ciento de los RN requieren maniobras de reanimación, de éstos, 1 por ciento requiere reanimación avanzada. OBJETIVOS: Caracterizar los RN reanimados durante el año 2011 en un hospital público. Materiales y métodos: Estudio descriptivo retrospectivo, con historias clínicas correspondientes a la totalidad de RN durante el 2011 en el Hospital Clínico Regional de Concepción. Se seleccionaron RN que requirieron maniobras de reanimación desde ventilación a presión positiva. Se analizaron datos demográficos, Apgar, maniobras realizadas y antecedentes maternos. RESULTADOS: Del total de RN vivos (4095) fueron reanimados 130 (3,17 por ciento), de estos últimos un 57,69 por ciento de término. El 11,5 por ciento fue de muy bajo peso y el 11,5 por ciento de extremo bajo peso al nacer. Hubo parto vaginal en 49,6 por ciento y cesárea urgencia 40,8 por ciento. En relación al Apgar al (1’) resultó <7 en 93,18 por ciento de los RN. Se utilizó Ventilación a Presión Positiva (VPP) en 66,15 por ciento; reanimándose sólo con aire un 12,9 por ciento de RN de término y todos los RN Pretérmino fueron reanimados con oxígeno, regulado por oximetría de pulso. Se realizó intubación endotraqueal en 26,92 por ciento; 6,92 por ciento requirió masaje cardiaco y medicamentos. El 96,15 por ciento sobrevivió y 48,15 por ciento fueron hospitalizados en UCI. DISCUSIÓN: El porcentaje de RN reanimados fue bajo en comparación a lo señalado en la literatura, pese a ser un centro de referencia. La mayoría de los reanimados fue de término. La maniobra más utilizada fue la VPP.

INTRODUCTION: Asphyxia is responsible for 19 percent of neonatal deaths that occur worldwide. Neonatal resuscitation contributes to lower morbidity and mortality in newborns. 10 percent of newborns require some assistance to begin breathing at birth; of this group less than 1 percent require extensive resuscitative measures. OBJECTIVE: To characterize newborns resuscitated during2011 in a public hospital. Material and method: Descriptive retrospective study, including all infants born during 2011 in Regional Clinical Hospital of Concepción. Neonates that required resuscitation measures were selected from positive ventilation pressure. Demographic data, Apgar score, resuscitation measures and maternal history were analyzed. RESULTS: Out of the 4095 living newborns, 130 of them (3.17 percent) were resuscitated. Of this group, 57.69 percent were of term gestation, 11.5 percent of them were very low weight and 11.5 percent extremely low weight. Vaginal delivery ocurred in 49.6 percent and urgency cesarean section in 40.8 percent. Apgar score at (1’) resulted <7 in 93.18 percent of neonates. Positive-pressure ventilation was used in 66.15 percent; using air in 12.9 percent of term infants. All preterm infants were resuscitated with oxygen, regulated by pulse oximetry. Endotracheal intubation was used in 6.92 percent; whereas 6.92 percent required cardiac massage and drugs. 96.15 percent survived and 48.15 percent were admitted to ICU. DISCUSSION: The percentage of resuscitated neonates was low in comparison to the pointed out in literature, despite being a reference center. The majority of resuscitated infants had term gestation. The most used resuscitation measure was positive pressure ventilation.

Tratamiento de la retinopatía del prematuro con bevacizumab intravítreo / Intravitreal bevacizumab as treatment for retinopathy of prematurity

Introducción: El tratamiento estándar de la Retinopatía del Prematuro (RDP) en etapa umbral es la fotocoagulación con láser (FCL). Recientemente se ha utilizado el bevacizumab, un inhibidor del factor de crecimiento del endotelio vascular (VEGF) con resultados alentadores. Objetivo: Comunicar el resultado del tratamiento con bevacizumab en Recién Nacidos (RN) prematuros con retinopatía en etapa umbral. Pacientes y Método: Se analizaron los RN pretérmino de muy bajo peso (RNMBP) que recibieron bevacizumab, en monoterapia o asociado a FCL, como tratamiento de la RDP en etapa umbral. Se evaluó respuesta al tratamiento, reintervenciones y complicaciones. Resultados: Se analizaron 17 RNMBP con promedio de edad gestacional 26,4 +/- 1,7 sem y peso de nacimiento de 850 +/- 141 g. Los 6 pacientes tratados con bevacizumab en asociación a FCL no requirieron reintervención. De los 11 neonatos que sólo recibieron bevacizumab, el 36,3 por ciento necesitó posteriormente tratamiento con FCL. Conclusiones: El bevacizumab sería una terapia efectiva en el tratamiento de la RDP umbral. En nuestra experiencia presentó ventajas respecto a la FCL, al ser realizado sin necesidad de traslado del RN ni de uso de anestesia general. No observamos complicaciones a corto plazo con el uso de bevacizumab en los pacientes tratados.

Introduction: Standard treatment of threshold Retinopathy of Prematurity (ROP) is laser photocoagulation (LPC). Recently, bevacizumab, a vascular endothelial growth factor (VEGF) inhibitor has been used with positive results. Objective: To communicate the response to treatment with bevacizumab in premature newborns with threshold retinopathy. Patients and Method: Very low birth weight (VLBW) infants that received bevacizumab, in monotherapy or associated with LPC, as treatment for threshold ROP, were analyzed. Response to treatment, reinterventions and complications were evaluated. Results: 17 VLBW infants were analyzed with mean gestational age 26.4 +/- 1.7 weeks and mean birth weight 850 +/- 141 g. All 6 patients treated with bevacizumab in association with LPC did not require reintervention. Of the 11 neonates that only received bevacizumab, 36.3 percent needed further treatment. Conclusions: Bevacizumab could be an effective therapy for treatment of threshold ROP. In our experience it presented advantages compared with LPC, since therapy can be carried out without transferring the patient and with no use of general anesthetics. No short term complications were observed with the use of bevacizumab in treated patients.

A positive feedback loop between HER2 and ADAM12 in human head and neck cancer cells increases migration and invasion.

Increased activation of epidermal growth factor receptor (EGFR) family members such as HER2/Erbb2 can result in more aggressive disease, resistance to chemotherapy and reduced survival of head and neck squamous cell carcinoma (HNSCC) patients. In order to identify mechanisms through which these receptor tyrosine kinases accelerate tumor progression, the regulation of metalloprotease expression by EGFR family members was investigated in 11 squamous cell carcinoma (SCC) cell lines. HER2 expression was significantly correlated with ADAM12 (A Disintegrin And Metalloprotease 12) expression in these cell lines and was co-expressed in human head and neck cancers. Inhibition of HER2 or EGFR decreased ADAM12 transcripts whereas HER2 transfection upregulated ADAM12 expression. To understand the molecular mechanisms underlying HER2 regulation of ADAM12, we investigated the signaling pathways directing ADAM12 production in SCC cells. Inhibition of phosphatidyl inositol-3-kinase or mammalian target of rapamycin decreased ADAM12 transcripts in HER2-expressing SCC cells, whereas transfection with AKT increased ADAM12 mRNA. Experiments utilizing ADAM12 transfection or siRNA targeting of ADAM12 revealed that the protease increased both the migration and invasiveness of oral SCC cells. Surprisingly, ADAM12 also increased HER2 message, protein levels and activity through an Ets1-dependent mechanism. Collectively, these results reveal a novel positive activation loop between ADAM12 and HER2 that may contribute to HNSCC progression.

[Small intestine bacterial overgrowth in patients with chronic pancreatitis]. / Sobrecrecimiento bacteriano intestinal en pacientes con pancreatitis crónica.

BACKGROUND: Previous reports describe 30-40% of small intestine bacterial overgrowth (SIBO) in patients with chronic pancreatitis (CP), SIBO is a cause of persistent symptoms in this group of patients even when they are treated with pancreatic enzymes. AIM: To asses the frequency of SIBO in patients with CP. PATIENTS AND METHODS: We studied 14 patients with CP using an hydrogen breath test with lactulose to detect SIBO, a nonabsorbable carbohydrate, whose results are not influenced by the presence of exocrine insufficiency. Main symptoms and signs were bloating in 9 (64%), recurrent abdominal pain in 8 (57%), intermittent diarrhea in 5 (36%) and steatorrhea in 5 (36%). At the same time we studied a healthy control group paired by age and sex. RESULTS: SIBO was present in 13 of 14 patients with CP (92%) and in 1 of 14 controls (p<0.001). The only patient with CP and without SIBO was recently diagnosed and had minimal morphologic alterations in computed tomography and endoscopic pancreatography. CONCLUSIONS: SIBO is common in CP and may be responsible for persistent symptoms. Proper diagnosis and treatment could alleviate symptoms and improve quality of Ufe.

Sobrecrecimiento bacteriano intestinal en pacientes con pancreatitis crónica / Small intestine bacterial overgrowth in patients with chronic pancreatitis

Background: Previous reports describe 30-40 percent of small intestine bacterial overgrowth (SIBO) in patients with chronic pancreatitis (CP), SIBO is a cause of persistent symptoms in this group of patients even when they are treated with pancreatic enzymes. Aim: To asses the frequency of SIBO in patients with CP. Patients and methods: We studied 14 patients with CP using an hydrogen breath test with lactulose to detect SIBO, a nonabsorbable carbohydrate, whose results are not influenced by the presence of exocrine insufficiency. Main symptoms and signs were bloating in 9 (64 percent), recurrent abdominal pain in 8 (57 percent), intermittent diarrhea in 5 (36 percent) and steatorrhea in 5 (36 percent). At the same time we studied a healthy control group paired by age and sex. Results: SIBO was present in 13 of 14 patients with CP (92 percent) and in 1 of 14 controls (p<0.001). The only patient with CP and without SIBO was recently diagnosed and had minimal morphologic alterations in computed tomography and endoscopic pancreatography Conclusions: SIBO is common in CP and may be responsible for persistent symptoms. Proper diagnosis and treatment could alleviate symptoms and improve quality of life.