Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia. / Hipobetalipoproteinemia familiar ApoB específica en una paciente con hiperplasia suprarrenal congénita no clásica.

Familial hypobetalipoproteinaemia is a disorder of lipid metabolism characterized by low levels of total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B. ApoB-related familial hypolipoproteinemia is an autosomal condition with a codominance inheritance pattern. Non-classical congenital adrenal hyperplasia is an autosomal recessive disorder due to mutations in the CYP21A2, a gene encoding for the enzyme 21-hydroxylase, which results in an androgen excess production from adrenal source. We here present the case of a 25-year-old woman with NCAH showing decreased levels of total-cholesterol, low-density lipoprotein cholesterol and triglycerides. Her parent had digestive symptoms and severe hepatic steatosis with elevated liver enzymes, as well as decreased levels of total and low-density lipoprotein cholesterol. A genetic-molecular study of the proband identified a mutation in the APOB gene, which allowed a diagnosis of heterozygous ApoB-related hypolipoproteinaemia to be made.

Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition.

Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and management. The diagnosis of disorders afffecting homocysteine (Hcy) metabolism faces delays due to insufficient awareness of its clinical presentation and unique biochemical characteristics. In cases of arterial or venous thrombotic vascular events, particularly with other comorbidities, it is crucial to consider moderate to severe HHcy. A nutritional approach to HHcy management involves implementing dietary strategies and targeted supplementation, emphasizing key nutrients like vitamin B6, B12, and folate that are crucial for Hcy conversion. Adequate intake of these vitamins, along with betaine supplementation, supports Hcy remethylation. Lifestyle modifications, such as smoking cessation and regular physical activity, complement the nutritional approach to enhance Hcy metabolism. For individuals with HHcy, maintaining a plasma Hcy concentration below 50 µmol/L consistently is vital to lowering the risk of vascular events. Collaboration with healthcare professionals and dietitians is essential for developing personalized dietary plans addressing the specific needs and underlying health conditions. This integrated approach aims to optimize metabolic processes and reduce the associated health risks.

Impact of COVID-19 on Short- and Medium-Term Prescription of Enteral Nutrition in the General Population vs. Older People in the Community of Madrid, Spain.

We aimed to analyse the impact of COVID-19 during 2020 and 2021 on the prescription of enteral nutritional support and its expenditure in the Community of Madrid, Spain, compared to pre-pandemic data from 2016 in the general population vs. elderly. We analysed official electronic prescriptions of all public hospitals of the Community of Madrid. The population over 75 years of age have the higher prescription of nutritional supplements (p < 0.001 vs. other age groups), with no differences between the 45−64 age group compared to the 65−74 age group (χ2 = 3.259, p = 0.196). The first wave of COVID-19 or the first time there was a real awareness of the virus in Spain is similar in a way to the first peak of prescription of enteral nutrition in March 2020. The second peak of prescription was observed in the over 75 age group in July 2020, being more pronounced in December 2020 and March−April of the following year (F = 7.863, p = 0.041). The last peaks correspond to summer 2021 and autumn of the same year (p = 0.031­year 2021 vs. 2020, p = 0.011­year 2021 vs. 2019), where a relationship between increased prescription of enteral nutrition and COVID-19 cases is observed. High-protein and high-calorie dietary therapies were the most prescribed in patients with or without diabetes. All of this entailed higher cost for the Community of Madrid. In conclusion, COVID-19 significantly affected the prescription of nutritional support, especially in the population over 75 years of age.

Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.

Hyperammonaemia is a metabolic derangement that may cause severe neurological damage and even death due to cerebral oedema, further complicating the prognosis of its triggering disease. In small children it is a rare condition usually associated to inborn errors of the metabolism. As age rises, and especially in adults, it may be precipitated by heterogeneous causes such as liver disease, drugs, urinary infections, shock, or dehydration. In older patients, it is often overlooked, or its danger minimized. This protocol was drafted to provide an outline of the clinical measures required to normalise ammonia levels in patients of all ages, aiming to assist clinicians with no previous experience in its treatment. It is an updated protocol developed by a panel of experts after a review of recent publications. We point out the importance of frequent monitoring to assess the response to treatment, the nutritional measures that ensure not only protein restriction but adequate caloric intake and the need to avoid delays in the use of specific pharmacological therapies and, especially, extrarenal clearance measures. In this regard, we propose initiating haemodialysis when ammonia levels are >200−350 µmol/L in children up to 18 months of age and >150−200 µmol/L after that age.

Efecto de la COVID-19 en la prescripción dietoterapéutica durante el primer semestre de 2020 en la Comunidad de Madrid / Effect of COVID-19 on dietotherapeutic prescription during the first half of 2020 in the Community of Madrid

Objetivos: el objetivo de este estudio es analizar el impacto de la COVID-19 en el primer semestre del año 2020, con respecto a la prescripción de soportes nutricionales enterales, y su gasto en la Comunidad de Madrid. Material y métodos: estudio descriptivo y comparativo del consumo de productos de nutrición enteral prescritos en recetas oficiales electrónicas durante el primer semestre de los años 2019 y 2020 en los hospitales públicos de la Comunidad de Madrid. Resultados: al analizar la prescripción del número de envases totales durante el periodo estudiado, por meses, se observa un incremento del 8 % en la prescripción durante el mes de marzo, comparado con los meses previos (p < 0,001), seguido de un descenso del 9 % en los meses de abril y mayo (p < 0,001). El comportamiento de la evolución del gasto sigue el mismo patrón, con un incremento en el mes de marzo (p < 0.001) y un descenso en los meses de abril y mayo de similar magnitud (ambos, p < 0,001). Al analizar por grupos de edades, el grupo de edad de más de 75 años fue el grupo con la mayor caída en las prescripciones (33,1 % mayor que entre los menores de 75) en los meses de abril y mayo de 2020 (p < 0,001). Conclusiones: la COVID-19 afectó de forma importante a la prescripción del soporte nutricional, especialmente en el grupo de mayor edad. El seguimiento de la enfermedad nos permitirá profundizar en el papel de la nutrición a corto y largo plazo. (AU)

Objectives: the aim of the study was to analyze the impact of COVID-19 on enteral nutrition prescription in the Community of Madrid during the first semester of 2020. Material and methods: this is a descriptive study of enteral nutrition prescription in the first semester of 2020 and its comparison with the first semester of 2019. We included all the prescriptions in public hospitals of the Community of Madrid as recorded in public electronic databases. Results: there was an 8 % increase in the number of enteral nutrition prescriptions in March 2020 when compared with the previous months (p < 0.001). Then, in April and May 2020 we observed a 9 % decrease in enteral nutrition prescriptions (p < 0.001). Total costs in enteral nutrition showed a similar pattern, with an increase in March 2020 (p < 0.001) and a decrease in April and May 2020 (p < 0.001). When analyzing the data by patient age, those above 75 y.o. showed the highest decrease in enteral nutrition prescriptions (33.1 % higher than for those under 75 y.o.) in April and May 2020 (p < 0.001). Conclusions: the irruption of COVID-19 had a relevant impact on enteral nutrition prescription, especially among the elderly. Follow-up is needed to assess the long-term consequences of this in nutritional therapy. (AU)

[Effect of COVID-19 on dietotherapeutic prescription during the first half of 2020 in the Community of Madrid]. / Efecto de la COVID-19 en la prescripción dietoterapéutica durante el primer semestre de 2020 en la Comunidad de Madrid.

INTRODUCTION: Objectives: the aim of the study was to analyze the impact of COVID-19 on enteral nutrition prescription in the Community of Madrid during the first semester of 2020. Material and Methods: this is a descriptive study of enteral nutrition prescription in the first semester of 2020 and its comparison with the first semester of 2019. We included all the prescriptions in public hospitals of the Community of Madrid as recorded in public electronic databases. Results: there was an 8 % increase in the number of enteral nutrition prescriptions in March 2020 when compared with the previous months (p < 0.001). Then, in April and May 2020 we observed a 9 % decrease in enteral nutrition prescriptions (p < 0.001). Total costs in enteral nutrition showed a similar pattern, with an increase in March 2020 (p < 0.001) and a decrease in April and May 2020 (p < 0.001). When analyzing the data by patient age, those above 75 y.o. showed the highest decrease in enteral nutrition prescriptions (33.1 % higher than for those under 75 y.o.) in April and May 2020 (p < 0.001). Conclusions: the irruption of COVID-19 had a relevant impact on enteral nutrition prescription, especially among the elderly. Follow-up is needed to assess the long-term consequences of this in nutritional therapy.

INTRODUCCIÓN: Objetivos: el objetivo de este estudio es analizar el impacto de la COVID-19 en el primer semestre del año 2020, con respecto a la prescripción de soportes nutricionales enterales, y su gasto en la Comunidad de Madrid. Material y métodos: estudio descriptivo y comparativo del consumo de productos de nutrición enteral prescritos en recetas oficiales electrónicas durante el primer semestre de los años 2019 y 2020 en los hospitales públicos de la Comunidad de Madrid. Resultados: al analizar la prescripción del número de envases totales durante el periodo estudiado, por meses, se observa un incremento del 8 % en la prescripción durante el mes de marzo, comparado con los meses previos (p < 0,001), seguido de un descenso del 9 % en los meses de abril y mayo (p < 0,001). El comportamiento de la evolución del gasto sigue el mismo patrón, con un incremento en el mes de marzo (p < 0.001) y un descenso en los meses de abril y mayo de similar magnitud (ambos, p < 0,001). Al analizar por grupos de edades, el grupo de edad de más de 75 años fue el grupo con la mayor caída en las prescripciones (33,1 % mayor que entre los menores de 75) en los meses de abril y mayo de 2020 (p < 0,001). Conclusiones: la COVID-19 afectó de forma importante a la prescripción del soporte nutricional, especialmente en el grupo de mayor edad. El seguimiento de la enfermedad nos permitirá profundizar en el papel de la nutrición a corto y largo plazo.

Case Report: Extensive Dermatitis Secondary to Severe Malnutrition, Zinc and Vitamin Deficiencies After Malabsorptive Bariatric Surgery.

Bariatric surgery is one of the most effective treatments currently available for obesity and its derived comorbidities. However, complications may occur, especially when malabsorptive surgeries like a biliopancreatic diversion is performed. We present the case of a female patient whose obesity was treated with this technique, and in the 9th year of follow-up developed an extensive dermatitis secondary to zinc deficiency and malnutrition, precipitated by therapeutic non-compliance. A close surveillance of early symptoms and signs of nutritional deficiencies as well as chronic supplementation of vitamins and trace elements is required; this case illustrates the relevance of periodical, lifelong visits to a medical physician with special training and experience in the management of post bariatric surgery patients in order to prevent, diagnosis and early treat related complications.

Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.

Background. Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the deficiency of the electron transfer protein or electron transfer protein ubiquinone oxidoreductase. The clinical picture ranges from a severe neonatal lethal presentation to late myopathic forms responsive to riboflavin. Up to now, there is no effective treatment for the neonatal form, which exhibits severe metabolic acidosis, hyperammonemia, hypoketotic hypoglycemia, and rhabdomyolysis. We present the case of a child who has had a good long-term outcome after a typical neonatal onset, with a dramatic drop in ammonia levels during the initial metabolic decompensation crisis and adequate control even during intercurrent diseases thereafter with N-carbamylglutamate treatment.

Bone mineral density is within normal range in most adult phenylketonuria patients.

Low bone mineral density (BMD) as a risk factor for fractures has been a long-standing concern in phenylketonuria (PKU). It is hypothesised that the disease itself or the dietary treatment might lead to a low BMD. Previous studies show conflicting results of BMD in PKU due to differences in age, techniques to assess BMD and criteria used. To assess the prevalence of low BMD and define possible risk factors in a large number of adult, early treated PKU (ETPKU) patients. European centres were invited for a survey, collecting retrospective data including results of dual-energy X-ray absorptiometry (DXA) scans of adult ETPKU patients. BMD of 183 adult ETPKU patients aged 18-46 (median age 28, all females premenopausal) years was lower than in the general population at most skeletal sites but the frequency of low BMD (Z-score <-2) was at maximum 5.5%. No risk factors for low BMD in PKU patients could be identified. Low BMD occurs only in a small subset of PKU patients. DXA scans should be considered for well controlled patients from age 35-40 years and up and on indication in those PKU patients considered to be at increased risk for fractures.

Síndrome de deficiencia de GLUT1 y COVID-19 / GLUT1 and COVID-19 deficiency síndrome

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Clinical and metabolic profile of patients with latent autoimmune diabetes in adults in specialized care in Madrid. / Perfil clínico y metabólico de pacientes con diabetes tipo LADA atendidos en atención especializada en la comunidad de Madrid.

OBJECTIVE: To report the clinical characteristics of patients with latent autoimmune diabetes in adults (LADA), and to ascertain their metabolic control and associated chronic complications. METHODS: Patients with DM attending specialized medical care in Madrid who met the following criteria: age at diagnosis of DM >30years, initial insulin independence for at least 6months and positive GAD antibodies were enrolled. Clinical profiles, data on LADA diagnosis, associated autoimmunity, C-peptide levels, therapeutic regimen, metabolic control, and presence of chronic complications were analyzed. RESULTS: Number of patients; 193; 56% females. Family history of DM: 62%. Age at DM diagnosis: 49years. Delay in confirmation of LADA: 3.5years. Insulin-independence time: 12months. Baseline serum C-peptide levels: 0.66ng/ml. Basal-bolus regimen: 76.7%. Total daily dose: 35.1U/day, corresponding to 0.51U/Kg. With no associated oral antidiabetic drugs: 33.5%. Other autoimmune diseases: 57%. Fasting plasma glucose: 160.5mg/dL. HbA1c: 7.7%. BMI: 25.4kg/m2 (overweight, 31.5%; obesity, 8%). Blood pressure: 128/75. HDL cholesterol: 65mg/dL. LDL cholesterol: 96mg/dL. Triglycerides: 89mg/dL. Known chronic complications: 28%. CONCLUSIONS: Recognition of LADA may be delayed by several years. There is a heterogeneous pancreatic insulin reserve which is negative related to glycemic parameters. Most patients are poorly controlled despite intensive insulin therapy. They often have overweight, but have adequate control of BP and lipid profile and a low incidence of macrovascular complications.

Perfil clínico y metabólico de pacientes con diabetes tipo LADA atendidos en atención especializada en la comunidad de Madrid / Clinical and metabolic profile of patients with latent autoimmune diabetes in adults in specialized care in Madrid

Objetivo: Definir las características clínicas de los pacientes con diabetes autoinmune latente del adulto (LADA), conocer su control metabólico y las complicaciones crónicas asociadas que presentan. Métodos: Seleccionamos pacientes con DM seguidos en las consultas de endocrinología de hospitales públicos de la Comunidad de Madrid que reunían los siguientes criterios: edad al diagnóstico de DM >30años, independencia inicial de insulina durante al menos 6meses y positividad de anticuerpos antiGAD. Analizamos datos clínicos relativos al diagnóstico de LADA, autoinmunidad asociada, niveles de péptidoC, pauta terapéutica, control metabólico y presencia de complicaciones crónicas. Resultados: Número de pacientes: 193. Mujeres: 56%. Antecedentes familiares de DM: 62%. Edad al diagnóstico de DM: 49años. Retraso en confirmación LADA: 3,5años. Tiempo de insulino-independencia: 12meses. PéptidoC basal suero: 0,66ng/ml (0,22nmol/l). Pauta de insulina basal-bolus: 76,7%. Dosis total diaria: 35,1U/día, correspondiente a 0,51U/kg. Sin fármacos orales asociados: 33,5%. Presencia de otras patologías autoinmunes: 57%. Glucemia en ayunas: 160,5mg/dl (8,91mmol/l). HbA1c: 7,7%. IMC: 25,4kg/m2 (sobrepeso: 31,5%; obesidad: 8%). Presión arterial: 128/75. Colesterol HDL: 65mg/dl (16,9mmol/l). Colesterol LDL: 96mg/dl (24,96mmol/l). Triglicéridos: 89mg/dl (1,01mmol/l). Complicaciones crónicas: 28%; microangiopatía: 23,1%; macroangiopatía: 4,9%. Conclusiones: El reconocimiento de LADA puede retrasarse varios años. La reserva pancreática de insulina de los pacientes es heterogénea y el grado medio de control glucémico deficiente a pesar de utilizar mayoritariamente insulinoterapia intensiva. Con frecuencia presentan sobrepeso, aunque tienen un control adecuado de la presión arterial y perfil lipídico y baja incidencia de complicaciones macroangiopáticas (AU)

Objective: To report the clinical characteristics of patients with latent autoimmune diabetes in adults (LADA), and to ascertain their metabolic control and associated chronic complications. Methods: Patients with DM attending specialized medical care in Madrid who met the following criteria: age at diagnosis of DM >30years, initial insulin independence for at least 6months and positive GAD antibodies were enrolled. Clinical profiles, data on LADA diagnosis, associated autoimmunity, C-peptide levels, therapeutic regimen, metabolic control, and presence of chronic complications were analyzed. Results: Number of patients; 193; 56% females. Family history of DM: 62%. Age at DM diagnosis: 49years. Delay in confirmation of LADA: 3.5years. Insulin-independence time: 12months. Baseline serum C-peptide levels: 0.66ng/ml. Basal-bolus regimen: 76.7%. Total daily dose: 35.1U/day, corresponding to 0.51U/Kg. With no associated oral antidiabetic drugs: 33.5%. Other autoimmune diseases: 57%. Fasting plasma glucose: 160.5mg/dL. HbA1c: 7.7%. BMI: 25.4kg/m2 (overweight, 31.5%; obesity, 8%). Blood pressure: 128/75. HDL cholesterol: 65mg/dL. LDL cholesterol: 96mg/dL. Triglycerides: 89mg/dL. Known chronic complications: 28%. Conclusions: Recognition of LADA may be delayed by several years. There is a heterogeneous pancreatic insulin reserve which is negative related to glycemic parameters. Most patients are poorly controlled despite intensive insulin therapy. They often have overweight, but have adequate control of BP and lipid profile and a low incidence of macrovascular complications (AU)

Efectiveness of long-term home parenteral nutrition with peripherally inserted central catheter: a case report / Eficacia de la nutrición parenteral domiciliaria de larga evolución con catéter de acceso periférico: a propósito de un caso

The use of home parenteral nutrition (HPN) in patients who can not obtain their nutritional requirements by the enteral route is increasing in recent years, allowing normalization lifestyle of patients. Neoplasm and mesenteric ischaemia are some of the diseases that most frequently require HPN in Spain. However, HPN is one of the cornerstones of the treatment of much less frequent illnesses as in the case of encapsulating peritoneal sclerosis. We present the case of a patient with encapsulating peritoneal sclerosis and HPN support for more than 7 years with a peripherally inserted central catheter (PICC) for over 6 years without complications and the autonomy to perform his normal business activity. Given the exceptional nature of the case we refer it to its publication.

El uso de la nutrición parenteral domiciliaria (NPD) en pacientes que no pueden alcanzar sus requerimientos nutricionales por la vía enteral está aumentando en los últimos años, permitiendo la normalización del estilo de vida de los pacientes. Entre las patologías que más frecuentemente precisan de la NPD en España destacan la neoplasia y la isquemia mesentérica. Sin embargo, la NPD constituye uno de los pilares básicos del tratamiento de enfermedades mucho menos frecuentes como es el caso de la esclerosis peritoneal encapsulante. A continuación presentamos el caso de un paciente diagnosticado de esclerosis peritoneal encapsulante con soporte NPD de más de 7 años de NPD con un catéter central de inserción periférica (PICC) para la NPD sin complicaciones y pudiendo realizar su actividad laboral habitual. Dado lo excepcional del caso lo remitimos para su publicación.

Eficacia de la nutrición parenteral domiciliaria de larga evolución con catéter de acceso periférico: a propósito de un caso / Effectiveness of long-term home parenteral nutrition with peripherally inserted central catheter: a case report

El uso de la nutrición parenteral domiciliaria (NPD) en pacientes que no pueden alcanzar sus requerimientos nutricionales por la vía enteral está aumentando en los últimos años, permitiendo la normalización del estilo de vida de los pacientes. Entre las patologías que más frecuentemente precisan de la NPD en España destacan la neoplasia y la isquemia mesentérica. Sin embargo, la NPD constituye uno de los pilares básicos del tratamiento de enfermedades mucho menos frecuentes como es el caso de la esclerosis peritoneal encapsulante. A continuación presentamos el caso de un paciente diagnosticado de esclerosis peritoneal encapsulante con soporte NPD de más de 7 años de NPD con un catéter central de inserción periférica (PICC) para la NPD sin complicaciones y pudiendo realizar su actividad laboral habitual. Dado lo excepcional del caso lo remitimos para su publicación (AU)

The use of home parenteral nutrition (HPN) in patients who can not obtain their nutritional requirements by the enteral route is increasing in recent years, allowing normalization lifestyle of patients. Neoplasm and mesenteric ischaemia are some of the diseases that most frequently require HPN in Spain. However, HPN is one of the cornerstones of the treatment of much less frequent illnesses as in the case of encapsulating peritoneal sclerosis. We present the case of a patient with encapsulating peritoneal sclerosis and HPN support for more than 7 years with a peripherally inserted central catheter (PICC) for over 6 years without complications and the autonomy to perform his normal business activity. Given the exceptional nature of the case we refer it to its publication (AU)

Detección de pacientes en riesgo de malnutrición en atención primaria. ¿Podemos mejorar? / Detecting patients at risk of malnutrition. Can we improve?

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