Impact of COVID-19 in nutritional and functional status of survivors admitted in intensive care units during the first outbreak. Preliminary results of the NUTRICOVID study.

BACKGROUND & AIMS: COVID-19 patients present a high hospitalization rate with a high mortality risk for those requiring intensive care. When these patients have other comorbid conditions and older age, the risk for severe disease and poor outcomes after ICU admission are increased. The present work aims to describe the preliminary results of the ongoing NUTRICOVID study about the nutritional and functional status and the quality of life of adult COVID-19 survivors after ICU discharge, emphasizing the in-hospital and discharge situation of this population. METHODS: A multicenter, ambispective, observational cohort study was conducted in 16 public hospitals of the Community of Madrid with COVID-19 survivors who were admitted to the ICU during the first outbreak. Preliminary results of this study include data retrospectively collected. Malnutrition and sarcopenia were screened at discharge using MUST and SARC-F; the use of healthcare resources was measured as the length of hospital stay and requirement of respiratory support and tracheostomy during hospitalization; other study variables were the need for medical nutrition therapy (MNT); and patients' functional status (Barthel index) and health-related quality of life (EQ-5D-5L). RESULTS: A total of 176 patients were included in this preliminary analysis. Most patients were male and older than 60 years, who suffered an average (SD) weight loss of 16.6% (8.3%) during the hospital stay, with a median length of stay of 53 (27-89.5) days and a median ICU stay of 24.5 (11-43.5) days. At discharge, 83.5% and 86.9% of the patients were at risk of malnutrition and sarcopenia, respectively, but only 38% were prescribed MNT. In addition, more than 70% of patients had significant impairment of their mobility and to conduct their usual activities at hospital discharge. CONCLUSIONS: This preliminary analysis evidences the high nutritional and functional impairment of COVID-19 survivors at hospital discharge and highlights the need for guidelines and systematic protocols, together with appropriate rehabilitation programs, to optimize the nutritional management of these patients after discharge.

Estudio en vida real de efectividad de una fórmula hipercalórica hiperproteica en el mantenimiento y mejora del estado nutricional en pacientes con indicación de nutrición enteral a largo plazo / Real-life study of the effectiveness of a high calorie and high protein formula in the maintenance and improvement of nutritional state in patients with an indication of long-term enteral nutrition

La selección de la fórmula más adecuada en nutrición enteral domiciliaria a largo plazo es un tema controvertido. Nuestro objetivo fue estudiar una fórmula hipercalórica hiperproteica en pacientes con alimentación exclusivamente con sonda a largo plazo (180 días). MÉTODOS: Estudio multicéntrico observacional prospectivo en vida real con fórmula hipercalórica hiperproteica (2kcal/ml y 20% de proteínas). Se recogieron datos generales, antropométricos, analíticos y de calidad de vida mediante escala analógica visual del European Quality of Life-5 Dimensions al inicio, 60, 120 y 180 días. La tolerancia gastrointestinal se evaluó con una escala analógica visual y escala de heces de Bristol y la valoración del riesgo de desnutrición mediante NRS-2002. RESULTADOS: Un total de 51 pacientes (88,2% varones, edad media de 62,0 años), con patología oncológica en el 72,5%. No hubo diferencias en datos antropométricos, aunque sí se redujo el porcentaje de pacientes con riesgo de desnutrición del 75 al 8,3% (p < 0,0001). No se observaron diferencias en albúmina, prealbúmina, transferrina, linfocitos o hematocrito. La calidad de vida mejoró de 3,84 (1,27) a 5,37 (1,12) en la escala analógica visual (p < 0,0001). Se observó una reducción de la sintomatología gastrointestinal a lo largo del seguimiento. Tanto el número como el porcentaje de deposiciones consideradas normales según la escala de Bristol se mantuvieron estables. CONCLUSIÓN: Nuestro estudio apoya que el empleo de fórmulas hipercalóricas hiperproteicas durante un tratamiento nutricional a 6 meses permite una adecuada evolución nutricional sin riesgo de deshidratación y con una buena tolerancia, incluso mejoría de sintomatología gastrointestinal, y puede contribuir a una mejora en la calidad de vida

The selection of the most appropriate formula in long-term home enteral nutrition is a controversial issue. Our objective was to study a high protein hypercaloric enteral nutrition formula in patients with long-term feeding (180 days). METHODS: Prospective observational multicenter real-life study with high-protein hypercaloric formula (2kcal/ml and 20% protein). General, anthropometric, analytical and quality of life data were collected by visual analog scale of the European Quality of Life-5 Dimensions at the beginning, 60, 120 and 180 days. Gastrointestinal tolerance was assessed with a visual analog scale and Bristol Stool Scale and the risk of malnutrition was assessed using NRS-2002. RESULTS: 51 patients (88.2% men, mean age 62.0 years), with oncological diseases in 72.5%. No differences in anthropometric data were observed, although the percentage of patients at risk of malnutrition according to NRS 2002 was reduced from 75% to 8.3% (p < 0.0001). No differences were observed in albumin, prealbumin, transferrin, lymphocytes or hematocrit. The quality of life improved from 3.84 (1.27) to 5.37 (1.12) on the visual analog scale (p < 0.0001). A reduction in gastrointestinal symptoms was observed throughout the period of enteral nutrition. Both the number and percentage of stools considered normal according to the Bristol scale remained stable. CONCLUSION: Our study supports that the use of high-protein hypercaloric formulas during a 6-month nutritional treatment allows an adequate nutritional evolution without risk of dehydration and with a good tolerance, even improvement of gastrointestinal symptoms, and can contribute to an improvement in the quality of lifetime

Real-life study of the effectiveness of a high calorie and high protein formula in the maintenance and improvement of nutritional state in patients with an indication of long-term enteral nutrition. / Estudio en vida real de efectividad de una fórmula hipercalórica hiperproteica en el mantenimiento y mejora del estado nutricional en pacientes con indicación de nutrición enteral a largo plazo.

The selection of the most appropriate formula in long-term home enteral nutrition is a controversial issue. Our objective was to study a high protein hypercaloric enteral nutrition formula in patients with long-term feeding (180 days). METHODS: Prospective observational multicenter real-life study with high-protein hypercaloric formula (2kcal/ml and 20% protein). General, anthropometric, analytical and quality of life data were collected by visual analog scale of the European Quality of Life-5 Dimensions at the beginning, 60, 120 and 180 days. Gastrointestinal tolerance was assessed with a visual analog scale and Bristol Stool Scale and the risk of malnutrition was assessed using NRS-2002. RESULTS: 51 patients (88.2% men, mean age 62.0 years), with oncological diseases in 72.5%. No differences in anthropometric data were observed, although the percentage of patients at risk of malnutrition according to NRS 2002 was reduced from 75% to 8.3% (p<0.0001). No differences were observed in albumin, prealbumin, transferrin, lymphocytes or hematocrit. The quality of life improved from 3.84 (1.27) to 5.37 (1.12) on the visual analog scale (p<0.0001). A reduction in gastrointestinal symptoms was observed throughout the period of enteral nutrition. Both the number and percentage of stools considered normal according to the Bristol scale remained stable. CONCLUSION: Our study supports that the use of high-protein hypercaloric formulas during a 6-month nutritional treatment allows an adequate nutritional evolution without risk of dehydration and with a good tolerance, even improvement of gastrointestinal symptoms, and can contribute to an improvement in the quality of lifetime.

Implication of gestational diabetes treatment on maternal weight gain and low neonatal weight: a large retrospective cohort study / Implicación del tratamiento de la diabetes gestacional en el aumento de peso materno y bajo peso neonatal: gran estudio de cohorte retrospectivo

Objective: the treatment for gestational diabetes is based on diet, and this may modify maternal weight gain. The limited maternal weight gain is related to newborns with small weight for their gestational age (SGA), and many studies have found an increase of SGA in women with gestational diabetes (GD), but the reason for this is not clear. The objective of this study is to evaluate the effects of gestational diabetes treatment on maternal weight gain and neonatal weight. Methods: a retrospective cohort study of 1,765 patients with GD, according to the National Diabetes Data Group (NDDG) criteria. We assessed: pre-pregnancy BMI, total maternal weight gain (MWG), weight gain during the third trimester, gestational week of starting the treatment, and treatment modality (diet or diet plus insulin). Birth weight was adjusted by gestational age and gender: SGA (= 10th) and large for gestational age (LGA) ( > 90th). Results: the percentage of newborns with weight percentile = 10 was 14.8%. The diet and the time of initiation of the treatment were related to maternal weight gain (MWG) in the third trimester. For every 1 kcal/kg of variation in the diet (increase or decrease), a MWG variation of 0.03 (0.001-0.06) kg occurred (p < 0.01). For each week before the beginning of treatment, the mother did not gain 0.13 ± [(-0.15) - (-0.11)] kg in the third trimester (p < 0.01). The SGA was related to the lowest MWG in total gestation: 7.0 (IQR 3.0-10.4) kg vs. 8.4 (IQR 5.0-11.6) kg (p < 0.01), and in the third trimester: 0.3 (IQR -0.9-1.5) kg vs. 0.9 (IQR -0.3-2.2) kg (p < 0.01). Conclusion: the dietary treatment for gestational diabetes leads to a lower maternal weight gain and induces an impact on neonatal weight

Objetivo: el tratamiento para la diabetes gestacional se basa en la dieta y esto puede modificar el aumento de peso materno. Un aumento de peso materno limitado está relacionado con recién nacidos con bajo peso para su edad gestacional (SGA). Muchos estudios han encontrado un aumento de niños con bajo peso en mujeres con diabetes gestacional, pero la razón de esto no está clara. El objetivo de este estudio es evaluar los efectos del tratamiento de la diabetes gestacional sobre el aumento de peso materno y el peso neonatal. Métodos: estudio de cohortes retrospectivo en 1765 pacientes con diabetes gestacional, según los criterios de los National Diabetes Data Groups (NDDG). Evaluamos: IMC antes del embarazo, aumento de peso materno total (MWG), aumento de peso durante el tercer trimestre, semana gestacional de inicio del tratamiento y modalidad de tratamiento (dieta o dieta más insulina). El peso al nacer se ajustó por edad gestacional y género: SGA (percentil de = 10) y grande para la edad gestacional (LGA) (percentil de > 90). Resultados: el porcentaje de recién nacidos con peso percentil de = 10 fue del 14,8%. La dieta y el momento de inicio del tratamiento se relacionaron con el aumento de peso materno en el tercer trimestre. Por cada 1 kcal/kg de variación en la dieta (aumento o disminución) se produjo una variación de aumento del peso materno de 0,03 (0,001-0.06) kg (p < 0,01). Por cada semana antes de inicio del tratamiento, la madre dejó de ganar 0,13 ± [(- 0,15) - (- 0,11)] kg en el tercer trimestre (p < 0,01). El SGA se relacionó con un aumento de peso materno más bajo en el total de la gestación: 7,0 (IQR 3,0-10,4) kg vs. 8,4 (IQR 5,0-11,6) kg (p < 0,01), y en el tercer trimestre: 0,3 (IQR -0,9-1,5) kg vs. 0,9 (IQR -0,3-2,2) kg (p < 0,01). Conclusión: el tratamiento dietético para la diabetes gestacional puede conducir a un menor aumento de peso materno y a su vez inducir un impacto en el peso neonatal

Implication of gestational diabetes treatment on maternal weight gain and low neonatal weight: a large retrospective cohort study.

INTRODUCTION: Objective: the treatment for gestational diabetes is based on diet, and this may modify maternal weight gain. The limited maternal weight gain is related to newborns with small weight for their gestational age (SGA), and many studies have found an increase of SGA in women with gestational diabetes (GD), but the reason for this is not clear. The objective of this study is to evaluate the effects of gestational diabetes treatment on maternal weight gain and neonatal weight. Methods: a retrospective cohort study of 1,765 patients with GD, according to the National Diabetes Data Group (NDDG) criteria. We assessed: pre-pregnancy BMI, total maternal weight gain (MWG), weight gain during the third trimester, gestational week of starting the treatment, and treatment modality (diet or diet plus insulin). Birth weight was adjusted by gestational age and gender: SGA (≤ 10th) and large for gestational age (LGA) (> 90th). Results: the percentage of newborns with weight ≤ 10 was 14.8 %. The diet and the time of initiation of the treatment were related to maternal weight gain (MWG) in the third trimester. For every 1 kcal/kg of variation in the diet (increase or decrease), a MWG variation of 0.03 (0.001-0.06) kg occurred (p < 0.01). For each week before the beginning of treatment, the mother did not gain 0.13 ± [(-0.15) - (-0.11)] kg in the third trimester (p < 0.01). The SGA was related to the lowest MWG in total gestation: 7.0 (IQR 3.0-10.4) kg vs 8.4 (IQR 5.0-11.6) kg (p < 0.01), and in the third trimester: 0.3 (IQR -0.9-1.5) kg vs. 0.9 (IQR -0.3-2.2) kg (p < 0.01). Conclusion: the dietary treatment for gestational diabetes leads to a lower maternal weight gain and induces an impact on neonatal weight.

INTRODUCCIÓN: Objetivo: el tratamiento para la diabetes gestacional se basa en la dieta y esto puede modificar el aumento de peso materno. Un aumento de peso materno limitado está relacionado con recién nacidos con bajo peso para su edad gestacional (SGA). Muchos estudios han encontrado un aumento de niños con bajo peso en mujeres con diabetes gestacional, pero la razón no está clara. El objetivo es evaluar los efectos del tratamiento de la diabetes gestacional sobre el aumento de peso materno y el peso neonatal. Métodos: estudio de cohortes retrospectivo en 1765 pacientes con diabetes gestacional. Evaluamos: IMC antes del embarazo, aumento de peso materno total, aumento de peso durante tercer trimestre, semana gestacional de inicio y modalidad de tratamiento (dieta o dieta más insulina). El peso al nacer se ajustó por edad gestacional y género: SGA (≤ 10) y grande para la edad gestacional (> 90). Resultados: el porcentaje de recién nacidos con peso ≤ 10 fue 14,8%. La dieta y el momento de inicio del tratamiento se relacionaron con aumento de peso materno en el tercer trimestre. Por cada 1 kcal/kg de variación en dieta (aumento o disminución) se produjo una variación de aumento del peso materno de 0,03 (0,001-0,06) kg (p < 0,01). Por cada semana antes de inicio del tratamiento la madre dejó de ganar 0,13 ± [(- 0,15)-(- 0,11)] kg en el tercer trimestre (p < 0,01). El SGA se relacionó con un aumento de peso materno más bajo en el total de la gestación: 7,0 (IQR 3,0-10,4) kg versus 8,4 (IQR 5,0-11,6) kg (p < 0,01), y en el tercer trimestre: 0,3 (IQR -0,9-1,5) kg vs. 0,9 (IQR -0,3-2,2) kg (p < 0,01). Conclusión: el tratamiento dietético para la diabetes gestacional puede conducir a un menor aumento de peso materno y a su influir en el peso neonatal.

Efectos agudos y a largo plazo del tratamiento con zolendronato en pacientes adultos con osteogénesis imperfecta. Estudio español observacional con 5 años de seguimiento / Acute and long-term effects of zoledronate in adult patients with osteogenesis imperfecta. An observational Spanish study with five years of follow-up

La osteogénesis imperfecta (OI) es una enfermedad genética que cursa con baja densidad mineral y fragilidad ósea. Varios trabajos han demostrado la eficacia de los bisfosfonatos para mejorar la densidad mineral ósea (DMO). El objetivo de este estudio es evaluar la evolución de la DMO y parámetros bioquímicos de metabolismo óseo, en pacientes adultos con OI tratados con ácido zoledrónico intravenoso (iv) durante un periodo medio de 5 años, así como valorar la seguridad de dicho tratamiento. Pacientes y métodos: Estudio prospectivo, observacional en pacientes adultos con OI con osteoporosis u osteopenia, con T-score<-2, a los que se administró ácido zoledrónico (4mg iv) cada 6 meses durante 3 años y posteriormente de forma anual. Se registraron a las 24 y 48 h los cambios agudos en calcio, fósforo, creatinina y hemograma así como los efectos secundarios tras la infusión. Se realizó densitometría basal y cada año. Se determinaron basal y anualmente calcio, fósforo, paratohormona (PTHi), 25OH-vitamina D y marcadores de remodelado óseo (fosfatasa alcalina ósea, ß-cross-lap y deoxipiridolina en orina). Se registraron las nuevas fracturas. Resultados: Se trataron 20 pacientes, 6 hombres y 14 mujeres con una mediana de seguimiento de 5 años. Los niveles de calcio y las plaquetas disminuyeron significativamente a las 24 y 48 h tras la primera infusión. El recuento de hematíes disminuyó a las 24h. Estos cambios no fueron clínicamente relevantes. Siete pacientes presentaron un cuadro pseudogripal tras la primera dosis. La DMO medida en columna lumbar mostró un aumento significativo (6,7%) a los 12 meses de seguimiento (0,741±0,178 vs. 0,791±0,140g/cm2; p=0,003) así como a los tres (5,7%) y 5 años (9%) de seguimento. En cuello femoral se evidenció incremento significativo de la DMO a los 3 años (11,1%): 0,648±0,148 vs. 0,720±0,138g/cm2; p=0,01. En cadera total el incremento (10,1%) resultó significativo a los 3 años de tratamiento (0,706±0,118 vs. 0,720±0,138; p=0,01). No se evidenciaron diferencias significativas en los niveles de calcio y 25OH-vitamina D largo del seguimiento, el fósforo disminuyó significativamente al año y PTHi aumentó a los 3 años. ß-cross-lap disminuyó al año de tratamiento. Solo un paciente ha presentado nuevas fracturas. Conclusiones: El ácido zoledrónico es un tratamiento cómodo, seguro y eficaz para mejorar la DMO en pacientes adultos con OI

Osteogenesis imperfecta (OI) is an inherited disorder that causes low mineral density and bone fragility. Previous studies have shown the efficacy of bisphosphonates to increase bone mineral density (BMD). This study assessed changes over time in BMD and biochemical markers of bone metabolism in adult patients with osteogenesis imperfecta treated with intravenous zoledronic acid and the safety of this treatment. Patients and methods: A prospective, observational study in patients with OI, osteoporosis or osteopenia (T score <-2) who were administered zoledronic acid infusions (4mg IV) every 6 months for three years and annually thereafter. Densitometry was performed annually. Acute changes in complete blood count and calcium, phosphate, and creatinine levels, as well as side effects of the infusion, were recorded 24 and 48h after treatment. Calcium, phosphate, parathyroid hormone (iPTH), 25OH-vitamin D and bone turnover markers (bone alkaline phosphatase, ß-crosslaps and urinary deoxypyridinoline) were measured at baseline and every 12 months. Adverse events and new fractures were recorded. Results: Twenty patients (6 men and 14 women) were treated. Median follow-up time was five years. Calcium levels and platelet counts significantly decreased 24 and 48hours after the first infusion, and the red blood cell count decreased at 24hours. These changes were not clinically relevant. Seven patients experienced a flu-like episode after the first dose. Treatment induced significant increases in BMD in the lumbar spine (6.7%) after 12 months of follow-up (0.791±0.178 vs. 0.791±0.140g/cm2, p=.003) and at three (5.7%) and five years (9%) of follow-up. Femoral neck BMD significantly increased after 3 years (11.1%): 0.648±0.148 vs. 0.720±0.138g/cm2; p=.01. In total hip, increase in BMD (10.1%) was significant after three years of treatment (0.706±0.118 vs. 0.720±0.138, p=.01). There were no significant differences in calcium and 25OH-vitamin D levels during follow-up, phosphorus significantly decreased after one year, and iPTH increased at three years. ß-crosslaps decreased after one year of treatment. Only one patient sustained new fractures. Conclusions: Zoledronic acid is a convenient, safe, and effective treatment that increases BMD in adult patients with OI

Acute and long-term effects of zoledronate in adult patients with osteogenesis imperfecta. An observational Spanish study with five years of follow-up. / Efectos agudos y a largo plazo del tratamiento con zolendronato en pacientes adultos con osteogénesis imperfecta. Estudio español observacional con 5 años de seguimiento.

Osteogenesis imperfecta (OI) is an inherited disorder that causes low mineral density and bone fragility. Previous studies have shown the efficacy of bisphosphonates to increase bone mineral density (BMD). This study assessed changes over time in BMD and biochemical markers of bone metabolism in adult patients with osteogenesis imperfecta treated with intravenous zoledronic acid and the safety of this treatment. PATIENTS AND METHODS: A prospective, observational study in patients with OI, osteoporosis or osteopenia (T score <-2) who were administered zoledronic acid infusions (4mg IV) every 6 months for three years and annually thereafter. Densitometry was performed annually. Acute changes in complete blood count and calcium, phosphate, and creatinine levels, as well as side effects of the infusion, were recorded 24 and 48h after treatment. Calcium, phosphate, parathyroid hormone (iPTH), 25OH-vitamin D and bone turnover markers (bone alkaline phosphatase, ß-crosslaps and urinary deoxypyridinoline) were measured at baseline and every 12 months. Adverse events and new fractures were recorded. RESULTS: Twenty patients (6 men and 14 women) were treated. Median follow-up time was five years. Calcium levels and platelet counts significantly decreased 24 and 48hours after the first infusion, and the red blood cell count decreased at 24hours. These changes were not clinically relevant. Seven patients experienced a flu-like episode after the first dose. Treatment induced significant increases in BMD in the lumbar spine (6.7%) after 12 months of follow-up (0.791±0.178 vs. 0.791±0.140g/cm2, p=.003) and at three (5.7%) and five years (9%) of follow-up. Femoral neck BMD significantly increased after 3 years (11.1%): 0.648±0.148 vs. 0.720±0.138g/cm2; p=.01. In total hip, increase in BMD (10.1%) was significant after three years of treatment (0.706±0.118 vs. 0.720±0.138, p=.01). There were no significant differences in calcium and 25OH-vitamin D levels during follow-up, phosphorus significantly decreased after one year, and iPTH increased at three years. ß-crosslaps decreased after one year of treatment. Only one patient sustained new fractures. CONCLUSIONS: Zoledronic acid is a convenient, safe, and effective treatment that increases BMD in adult patients with OI.

Neoplasia endocrina múltiple tipo 1 con mutación negativa y fenocopias / Multiple endocrine neoplasia type 1 with negative mutation and phenocopies

Introducción: existen 4 tipos de neoplasias endocrinas múltiples, las cuales se caracterizan por la aparición de tumores en 2 o más glándulas endocrinas. La prevalencia de neoplasia endocrina múltiple 1 es aproximadamente 2 por 100 000, y constituyen una enfermedad poco frecuente. Objetivo: descartar, ante la sospecha de una neoplasia endocrina múltiple 1 con mutación negativa, otras enfermedades para poder diagnosticarla como tal. Presentación del caso clínico: mujer de 36 años, con diagnóstico de macroprolactinoma e hiperparatiroidismo primario normocalcémico (neoplasia endocrina múltiple 1 clínica), hallazgos clínicos que justificaron el estudio genético. Inicialmente para neoplasia endocrina múltiple 1, resultó negativo. En pacientes con neoplasia endocrina múltiple 1 clínica -o alta sospecha de neoplasia endocrina múltiple 1 en los que no se identifica mutación- hay que considerar que se trate de una fenocopia y ampliar el estudio genético: CDC73, CDKN1B, CaSR y AIP. También se analizaron estos genes, y fueron negativos. Otra entidad a considerar sería el hiperparatiroidismo aislado familiar. Conclusiones: llegar al diagnóstico de neoplasia endocrina múltiple 1 a veces no es tan simple, como identificar una mutación positiva. Es importante descartar fenocopias, para poder diagnosticar correctamente al paciente, pues esto determinará el seguimiento en búsqueda de otros posibles tumores, lo que -en último término- puede condicionar el pronóstico(AU)

Introduction: there are four types of multiple endocrine neoplasias which are characterized by occurrence of tumors in two or more endocrine glands. The prevalence rate of multiple endocrine neoplasia type 1 is 2 per 100 000 patients approximately and it is a rare disease. Objective: to rule out the existence of any other disease in order to properly diagnose a suspected multiple endocrine neoplasia type 1 with negative mutation. Clinical case presentation: a 36 years-old woman diagnosed with macroprolactinoma and primary normocalcemic hyperparathyroidism (clinical multiple endocrine neoplasia type 1) and clinical findings supporting the performance of a genetic study. The study initially yielded negative results for the above-mentioned disease. However, in those patients with clinical multiple endocrine neoplasia type 1- or high suspicious of multiple endocrine neoplasia type 1 with no identified mutation- it must be considered that there is a phenocopy and the genetic study must be extended to include CDC 73, CDKN1B, CaSR and AIP. These genes were also analyzed with negative results. Another disease to be considered would be isolated family hyperparathyroidism. Conclusions: making the diagnosis of a multiple endocrine neoplasia type 1 is not sometimes as simple as identifying a positive mutation. It is important to rule out possible phenocopies to be able to adequately diagnose a patient, since this will determine the search for other probable tumors which may ultimately influence this prognosis(AU)

Opciones reproductivas en pacientes con osteogénesis imperfecta. A propósito de 2 casos de la misma familia con una nueva mutación en COL1A1 / Reproductive options in osteogenesis imperfecta. A two cases report in the same family with a new mutation in COL1A1

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Hipertiroidismo secundario a enfermedad trofoblástica gestacional invasiva / Hyperthyroidism due to invasive gestational trophoblastic disease

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Hígado graso no alcohólico en pacientes con sobrepeso y obesidad infantojuvenil / Non-alcoholic fatty liver in children and adolescents with excess weight and obesity

Fundamentos y objetivo: La esteatosis hepática, también denominada hígado graso no alcohólico (HGNA), es la enfermedad hepática más frecuente en niños obesos y está sufriendo un incremento importante en su incidencia debido al aumento de la obesidad infantil. Los objetivos de nuestro trabajo son: estimar la prevalencia de HGNA en niños con sobrepeso y obesidad utilizando el valor de la glutamate pyruvate transaminase (GPT, «transaminasa glutámico-pirúvica») y la ecografía abdominal, así como correlacionar la presencia de HGNA con distintos parámetros antropométricos y bioquímicos. Pacientes y método: Estudio transversal de prevalencia que incluye pacientes con sobrepeso y obesidad, con edades entre 5 y 15 años, reclutados entre 2004-2012. Las variables independientes incluidas fueron: edad, sexo, peso, talla, índice de masa corporal, perímetro de cintura (PC), índice cintura-talla (ICT), insulinemia,Homeostasis model assessment-insulin resistance (HOMA-R), colesterol total, triglicéridos (TG), high density lipoproteins (HDL, «lipoproteínas de alta densidad»), low density lipoproteins (LDL, «lipoproteínas de baja densidad»), glutamic-oxaloacetic transaminase (GOT, «transaminasa glutámico-oxalacética»), GPT y gamma glutamil transpeptidasa (GGT). Resultados: Se seleccionaron 126 pacientes, con una edad media (DE) de 11,94 (3,12) años. El 19,66% presentó elevación patológica de GPT. Treinta y ocho pacientes (30,15%) presentaron esteatosis hepática utilizando la ecografía abdominal. Los valores de insulinemia, HOMA-R y LDL fueron significativamente mayores en pacientes con alteración de GPT (p = 0,015, p = 0,008 y p = 0,002, respectivamente). Los pacientes con HGNA observado en ecografía también mostraron mayores valores de insulinemia, PC, ICT, colesterol total, TG, LDL, GOT, GPT y GGT que los pacientes con ecografía normal, alcanzándose la significación estadística en valor de insulinemia, HOMA, LDL y GPT. Conclusiones: La esteatosis hepática es un trastorno relativamente frecuente en niños y jóvenes con obesidad. Dos de cada 10 niños –utilizando GPT– y 3 de cada 10 –utilizando la ecografía abdominal– la presentan, y el marcador bioquímico que mejor la define es una elevación de la GPT. Es imprescindible y necesaria una modificación en el estilo de vida que incluya la pérdida de peso como medida principal para evitar complicaciones en la vida adulta (AU)

Basis and objective: Hepatic steatosis, also known as non-alcoholic fatty liver (NAFL), is the most frequent liver disease in obese children. Due to an increase in infantile obesity, it is experiencing a significant increment in incidence. Our objetives are: Estimate the prevalence of NAFL in children with excess weight and obesity using the glutamate pyruvate transaminase (GPT) value as a biochemical test and an abdominal ultrasound, and correlate the presence of hepatic steatosis with various anthropometric and biochemical parameters. Patients and method: Cross-sectional prevalence study which includes children with excess weight and obesity between the ages of 5 and 15 years, between the years 2004-2012. The independent variables included were: age, sex, weight, size, body mass index (BMI), waist circumference (WC), waist size index (WSI), insulinemia, Homeostasis model assessment-insulin resistance (HOMA-R), total cholesterol, triglycerides (TG), high density lipoproteins (HDL), low density lipoproteins (LDL), glutamic-oxaloacetic transaminase (GOT), GPT and gamma-glutamyl transpeptidase (GGT). Results: One hundred and twenty-six patients, with an average age of 11.94 (3.12) years were recruited. A percentage of 19.66 of the patients presented elevated GPT pathology. Of the 126 abdominal ultrasounds performed, 38 patients presented hepatic steatosis (30.15%). The levels of insulinemia, HOMA-R and LDL were significantly higher in patients with altered GPT, compared to those with normal GPT values (P = .015, P = .008 and P = .002, respectively). The patients with an objective HGNA in ultrasound, also showed greater levels of insulinemia, WC, WSI, total cholesterol, TG, LDL, GLT, GPT and GGT than the patients with normal ultrasounds, thereby achieving statistical significance in insulinemia, HOMA-R, LDL and GPT values. Conclusions: NAFL is a relatively frequent disorder in obese children and adolescents. In our study, 2 of 10 children –using GPT– and 3 of every 10 –using abdominal ultrasound– present the same. The biochemical marker which best defines it is an elevation in GPT. A modification in lifestyle which includes weight loss as a principal means of avoiding complications in adult life, is essential and necessary (AU)

Relación entre xerostomía y diabetes mellitus: una complicación poco conocida / Relationship between xerostomia and diabetes mellitus: A little known complication

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[Non-alcoholic fatty liver in children and adolescents with excess weight and obesity]. / Hígado graso no alcohólico en pacientes con sobrepeso y obesidad infantojuvenil.

BASIS AND OBJECTIVE: Hepatic steatosis, also known as non-alcoholic fatty liver (NAFL), is the most frequent liver disease in obese children. Due to an increase in infantile obesity, it is experiencing a significant increment in incidence. Our objetives are: Estimate the prevalence of NAFL in children with excess weight and obesity using the glutamate pyruvate transaminase (GPT) value as a biochemical test and an abdominal ultrasound, and correlate the presence of hepatic steatosis with various anthropometric and biochemical parameters. PATIENTS AND METHOD: Cross-sectional prevalence study which includes children with excess weight and obesity between the ages of 5 and 15 years, between the years 2004-2012. The independent variables included were: age, sex, weight, size, body mass index (BMI), waist circumference (WC), waist size index (WSI), insulinemia, Homeostasis model assessment-insulin resistance (HOMA-R), total cholesterol, triglycerides (TG), high density lipoproteins (HDL), low density lipoproteins (LDL), glutamic-oxaloacetic transaminase (GOT), GPT and gamma-glutamyl transpeptidase (GGT). RESULTS: One hundred and twenty-six patients, with an average age of 11.94 (3.12) years were recruited. A percentage of 19.66 of the patients presented elevated GPT pathology. Of the 126 abdominal ultrasounds performed, 38 patients presented hepatic steatosis (30.15%). The levels of insulinemia, HOMA-R and LDL were significantly higher in patients with altered GPT, compared to those with normal GPT values (P=.015, P=.008 and P=.002, respectively). The patients with an objective HGNA in ultrasound, also showed greater levels of insulinemia, WC, WSI, total cholesterol, TG, LDL, GLT, GPT and GGT than the patients with normal ultrasounds, thereby achieving statistical significance in insulinemia, HOMA-R, LDL and GPT values. CONCLUSIONS: NAFL is a relatively frequent disorder in obese children and adolescents. In our study, 2 of 10 children -using GPT- and 3 of every 10 -using abdominal ultrasound- present the same. The biochemical marker which best defines it is an elevation in GPT. A modification in lifestyle which includes weight loss as a principal means of avoiding complications in adult life, is essential and necessary.

[The X of dyslipemias]. / La X de las dislipemias.

Patients with cholestatic diseases can present secondary hypercholesterolemia, as a result of the accumulation of lipoprotein X (Lp-X); an abnormal LDL form, considered as the biochemical parameter more sensitive and specific for the diagnosis of cholestasis intra or extrahepatic cholestasis. The aim of this clinical communication is to illustrate this association. A 54-year-old male with severe cholestatic liver disease which in turn presents a progressive total cholesterol rise and LDL with presence of lipoprotein X. Total and LDL cholesterol were down to normal, also coinciding with the improvement of cholestatic liver disease conferring cardiovascular protection pattern.

Los pacientes con colestasis hepática pueden presentar hipercolesterolemia secundaria, como consecuencia de la acumulación de la lipoproteína X (Lp-X); una forma anómala de LDL, considerada como el parámetro bioquímico más sensible y específico para el diagnóstico de colestasis intra o extrahepática. El objetivo de esta comunicación clínica es ilustrar esta asociación. Se trata de un varón de 54 años con hepatopatía colestásica severa que a su vez presenta una elevación progresiva de colesterol total y LDL con presencia de lipoproteína X. El colesterol total y LDL, descendieron progresivamente hasta normalizarse, coincidiendo con la mejoría de la función hepática, confiriendo un patrón de protección cardiovascular.

La X de las dislipemias / The "x" of dyslipemias

Los pacientes con colestasis hepática pueden presentar hipercolesterolemia secundaria, como consecuencia de la acumulación de la lipoproteína X (Lp-X); una forma anómala de LDL, considerada como el parámetro bioquímico más sensible y específico para el diagnóstico de colestasis intra o extrahepática. El objetivo de esta comunicación clínica es ilustrar esta asociación. Se trata de un varón de 54 años con hepatopatía colestásica severa que a su vez presenta una elevación progresiva de colesterol total y LDL con presencia de lipoproteína X. El colesterol total y LDL, descendieron progresivamente hasta normalizarse, coincidiendo con la mejoría de la función hepática, confiriendo un patrón de protección cardiovascular (AU)

Patients with cholestatic diseases can present secondary hypercholesterolemia, as a result of the accumulation of lipoprotein X (Lp-X); an abnormal LDL form, considered as the biochemical parameter more sensitive and specific for the diagnosis of cholestasis intra or extrahepatic cholestasis. The aim of this clinical comunication is to illustrate this association. A 54-year-old male with severe cholestatic liver disease wich in turn presents a progressive total cholesterol rise and LDL with presence of lipoprotein X. Total and LDL cholesterol were down to normal, also coinciding with the improvement of cholestatic liver disease conferring cardiovascular protection pattern (AU)