Efficacy of different 8 h time-restricted eating schedules on visceral adipose tissue and cardiometabolic health: A study protocol.

BACKGROUND AND AIMS: To investigate the efficacy and feasibility of three different 8 h time-restricted eating (TRE) schedules (i.e., early, late, and self-selected) compared to each other and to a usual-care (UC) intervention on visceral adipose tissue (VAT) and cardiometabolic health in men and women. METHODS AND RESULTS: Anticipated 208 adults (50% women) aged 30-60 years, with overweight/obesity (25 ≤ BMI<40 kg/m2) and with mild metabolic impairments will be recruited for this parallel-group, multicenter randomized controlled trial. Participants will be randomly allocated (1:1:1:1) to one of four groups for 12 weeks: UC, early TRE, late TRE or self-selected TRE. The UC group will maintain their habitual eating window and receive, as well as the TRE groups, healthy lifestyle education for weight management. The early TRE group will start eating not later than 10:00, and the late TRE group not before 13:00. The self-selected TRE group will select an 8 h eating window before the intervention and maintain it over the intervention. The primary outcome is changes in VAT, whereas secondary outcomes include body composition and cardiometabolic risk factors. CONCLUSION: This study will determine whether the timing of the eating window during TRE impacts its efficacy on VAT, body composition and cardiometabolic risk factors and provide insights about its feasibility.

Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases.

OBJECTIVES: Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify missed cases of HPP was developed and implemented. METHODS: Analytical determinations recorded in the Clinical Analysis Unit of the Hospital Universitario Clínico San Cecilio in the period June 2018 - December 2020 were reviewed. A new clinical algorithm to detect HPP-misdiagnosed cases was used including the following steps: confirmation of persistent hypophosphatasemia, exclusion of secondary causes of hypophosphatasemia, determination of serum pyridoxal-5'-phosphate (PLP) and genetic study of ALPL gene. RESULTS: Twenty-four subjects were selected to participate in the study and genetic testing was carried out in 20 of them following clinical algorithm criteria. Eighty percent of patients was misdiagnosed with HPP following the current standard clinical practice. Extrapolating these results to the current Spanish population means that there could be up to 27,177 cases of undiagnosed HPP in Spain. In addition, we found a substantial proportion of HPP patients affected by other comorbidities, such as autoimmune diseases (∼40 %). CONCLUSIONS: This new algorithm was effective in detecting previously undiagnosed cases of HPP, which appears to be twice as prevalent as previously estimated for the European population. In the near future, our algorithm could be globally applied routinely in clinical practice to minimize the underdiagnosis of HPP. Additionally, some relevant findings, such as the high prevalence of autoimmune diseases in HPP-affected patients, should be investigated to better characterize this disorder.

Prevalence of Sarcopenia and Dynapenia and Related Clinical Outcomes in Patients with Type 1 Diabetes Mellitus.

BACKGROUND: Sarcopenia has recently been recognized as a complication of diabetes. However, there are few results about the prevalence of sarcopenia and dynapenia and the related clinical outcomes in type 1 diabetes mellitus (T1DM). Our objectives were to evaluate the prevalence of sarcopenia and dynapenia and to determine whether there are any associations with disease-related factors in people with T1DM. METHODS: A cross-sectional study was conducted in people with T1DM. We assessed appendicular skeletal mass index (ASMI) using bioimpedance 50 Hz (Nutrilab Akern). Muscle function was assessed through handgrip strength (HGS) using a Jamar dynamometer. Sarcopenia was defined as a low HGS with low ASMI, whereas dynapenia was defined as low HGS with a normal ASMI. We used HGS data from the Spanish population percentile table and a cut-off point at p5 as dynapenia. The association of clinical, metabolic, and lifestyle variables with sarcopenia and dynapenia was studied. RESULTS: This study included 62 T1DM patients (66% females, mean age of 38 ± 14 years, body mass index (BMI) of 24.9 ± 4.7 kg/m2). The prevalence of sarcopenia and dynapenia was 8% and 23%, respectively. In our sample, there were more men in the sarcopenic and dynapenic groups. The sarcopenic group showed a significantly higher mean HbA1c value. Lower diabetes duration, PREDIMED score, BMI, and muscle mass measures (fat-free mass index (FFMI), ASMI, and body cell mass index (BCMI)) were significantly associated with sarcopenia. Decreased diabetes duration, PREDIMED score, phase angle (PhA), and HGS values showed a significant association with dynapenia. CONCLUSIONS: The prevalence of sarcopenia and dynapenia was high in people with T1DM in our study. Specifically, the proportion of dynapenia was quite high. HGS and ASMI are practical tools for the assessment of muscle health status in T1DM, and low values are associated with poor glycemic control, underweight, and low adherence to the Mediterranean diet. Thus, dynapenia may predict accelerated muscle aging in T1DM.

The Influence of the Mediterranean Dietary Pattern on Osteoporosis and Sarcopenia.

Diet is a modifiable factor in bone and muscle health. The Mediterranean diet (MedDiet) is rich in nutrients and contains key bioactive components with probable protective effects on muscle and bone deterioration. Osteoporosis (OP) and sarcopenia are diseases that increase frailty and susceptibility to fracture, morbidity and mortality. Therefore, it is necessary to combat them in the population. In this regard, MedDiet adherence has proven to be beneficial to bone mineral density (BMD), muscle mass, physical function, OP and sarcopenia. Hence, this diet is proposed as a therapeutic tool that could slow the onset of osteoporosis and sarcopenia. However, there is doubt about the interaction between the MedDiet, strength and fracture risk. Perhaps the amount of EVOO (extra virgin olive oil), fruits, vegetables and fish rich in anti-inflammatory and antioxidant nutrients ingested has an influence, though the results remain controversial.

Influence of the Mediterranean Diet on Healthy Aging.

The life expectancy of the global population has increased. Aging is a natural physiological process that poses major challenges in an increasingly long-lived and frail population. Several molecular mechanisms are involved in aging. Likewise, the gut microbiota, which is influenced by environmental factors such as diet, plays a crucial role in the modulation of these mechanisms. The Mediterranean diet, as well as the components present in it, offer some proof of this. Achieving healthy aging should be focused on the promotion of healthy lifestyle habits that reduce the development of pathologies that are associated with aging, in order to increase the quality of life of the aging population. In this review we analyze the influence of the Mediterranean diet on the molecular pathways and the microbiota associated with more favorable aging patterns, as well as its possible role as an anti-aging treatment.

Vitamin D and COVID-19: where are we now?

The pandemic caused by the SARS-CoV-2 virus has triggered great interest in the search for the pathophysiological mechanisms of COVID-19 and its associated hyperinflammatory state. The presence of prognostic factors such as diabetes, cardiovascular disease, hypertension, obesity, and age influence the expression of the disease's clinical severity. Other elements, such as 25-hydroxyvitamin D (25(OH)D3) concentrations, are currently being studied. Various studies, mostly observational, have sought to demonstrate whether there is truly a relationship between 25(OH)D3 levels and the acquisition and/or severity of the disease. The objective of this study was to carry out a review of the current data that associate vitamin D status with the acquisition, evolution, and/or severity of infection by the SARS-CoV-2 virus and to assess whether prevention through vitamin D supplementation can prevent infection and/or improve the evolution once acquired. Vitamin D system has an immunomodulatory function and plays a significant role in various bacterial and viral infections. The immune function of vitamin D is explained in part by the presence of its receptor (VDR) and its activating enzyme 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1) in immune cells. The vitamin D, VDR, and Retinoid X Receptor complex allows the transcription of genes with antimicrobial activities, such as cathelicidins and defensins. COVID-19 characteristically presents a marked hyperimmune state, with the release of proinflammatory cytokines such as IL-6, TNF-α, and IL-1ß. Thus, there are biological factors linking vitamin D to the cytokine storm, which can herald some of the most severe consequences of COVID-19, such as acute respiratory distress syndrome. Hypovitaminosis D is widespread worldwide, so the prevention of COVID-19 through vitamin D supplementation is being considered as a possible therapeutic strategy easy to implement. However, more-quality studies and well-designed randomized clinical trials are needed to address this relevant question.

Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.

Introduction: Hypophosphatasia (HPP) is an inborn metabolic error caused by mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP) and leading to decreased alkaline phosphatase (ALP) activity. Although the main characteristic of this disease is bone involvement, it presents a great genetic and clinical variability, which makes it a systemic disease. Methods: Patients were recruited based on biochemical assessments. Diagnosis was made by measuring serum ALP and pyridoxal 5-phosphate levels and finally by Sanger sequencing of the ALPL gene from peripheral blood mononuclear cells. Characterization of the new variants was performed by transfection of the variants into HEK293T cells, where ALP activity and cellular localization were measured by flow cytometry. The dominant negative effect was analyzed by co-transfection of each variant with the wild-type gene, measuring ALP activity and analyzing cellular localization by flow cytometry. Results: Two previously undescribed variants were found in the ALPL gene: leucine 6 to serine missense mutation (c.17T>C, L6S) affecting the signal peptide and threonine 167 deletion (c.498_500delCAC, T167del) affecting the vicinity of the active site. These mutations lead mainly to non-pathognomonic symptoms of HPP. Structural prediction and modeling tools indicated the affected residues as critical residues with important roles in protein structure and function. In vitro results demonstrated low TNSALP activity and a dominant negative effect in both mutations. The results of the characterization of these variants suggest that the pleiotropic role of TNSALP could be involved in the systemic effects observed in these patients highlighting digestive and autoimmune disorders associated with TNSALP dysfunction. Conclusions: The two new mutations have been classified as pathogenic. At the clinical level, this study suggests that both mutations not only lead to pathognomonic symptoms of the disease, but may also play a role at the systemic level.

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.

Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher prevalence than currently established. This is largely due to the overlapping of its symptomatology with that of other more frequent pathologies. Although HPP is usually associated with deficient bone mineralization, the high genetic variability of ALPL results in high clinical heterogeneity, which makes it difficult to establish a specific HPP symptomatology. In the present study, three variants of ALPL gene with uncertain significance and no previously described (p.Del Glu23_Lys24, p.Pro292Leu and p.His379Asn) were identified in heterozygosis in patients diagnosed with HPP. These variants were characterized at phenotypic, functional and structural levels. All genetic variants showed significantly lower in vitro ALP activity than the wild-type (WT) genotype (p-value <0.001). Structurally, p.His379Asn variant resulted in the loss of two Zn2+ binding sites in the protein dimer which may greatly affect ALP activity. In summary, we identified three novel ALPL gene mutations associated with adult HPP. The correct identification and characterization of new variants and the subsequent study of their phenotype will allow the establishment of genotype-phenotype relationships that facilitate the management of the disease as well as making it possible to individualize treatment for each specific patient. This would allow the therapeutic approach to HPP to be personalized according to the unique genetic characteristics and clinical manifestations of each patient.

Relationship between malnutrition and the presence of symptoms of anxiety and depression in hospitalized cancer patients.

BACKGROUND: Anxiety and depression are a common issue in patients with cancer, yet understudied among hospitalized patients. The aim of this study was to estimate the prevalence of anxiety and depression symptomatology in cancer inpatients and its relationship with malnutrition. METHODS: Cross-sectional study in hospitalized cancer patients. A nutritional assessment was done using the Global Leadership Initiative on Malnutrition (GLIM) criteria to diagnose malnutrition. Data regarding anxiety and depression symptomatology was obtained with the Hospital Anxiety and Depression Scale (HADS). RESULTS: A total of 282 inpatients were assessed. GLIM criteria found 20% (66) of well-nourished and 80% (216) with malnutrition. HADS presented an average score of 8.3 ± 4.4 with respect to anxiety and an average score of 7.7 ± 4.6 with respect to depression. Up to 54% of the patients showed a possible presence of anxiety, and 45.3% of them showed a possible presence of depression. In malnourished patients, HADS score was non-significantly higher with respect to anxiety (8.5 ± 4.3 in malnourished vs 7.1 ± 4.6 in well-nourished; p = 0.06) and was significantly higher with respect to depression (8.2 ± 4.6 in malnourished vs 5.3 ± 4.0 in well-nourished; p < 0.001). After controlling for potential confounders, malnourished patients were 1.98 times more likely to present anxious symptomatology (95% CI 1.01-3.98; p = 0.049) and 6.29 times more likely to present depressive symptomatology (95% CI 1.73-20.47; p = 0.005). CONCLUSIONS: The presence of anxiety and depression symptomatology in oncological inpatients is high. There is an association between malnutrition and presenting anxious and depressive symptomatology in hospitalized cancer patients.

Assessment of body composition in cystic fibrosis: agreement between skinfold measurement and densitometry.

Introduction: Introduction: few studies have evaluated body composition (BC) through different techniques, and the degree of agreement between them in adults with cystic fibrosis (CF). Objectives: to describe BC using techniques to assess nutritional status and to test their concordance in CF. Methods: a cross-sectional study in CF patients in a clinically stable situation. Nutritional assessment was performed using skinfold measurement (SM) and densitometry (DXA). Fat-free mass index (FFMI) was also determined. The diagnosis of malnutrition was established if body mass index (BMI) < 18.5 kg/m2. Fat-free mass (FFM) malnutrition was diagnosed when FFMI was < 17 kg/m2 in males and < 15 kg/m2 in females (FFMI: fat-free mass in kg/height in m2). Results: forty-one patients were studied (twenty-two females, 53.7 %); median age was 29.8 (interquartile range, 20.9-33.7); BMI was 21.6 (19.8-23.0). Only four (9.8 %) patients had a BMI < 18.5. By DXA, FFM (kg) results were: median, 52.8 (47.8-56.9) with FFMI of 17.9 (16.7-19.3) in males and 36.7 (33.1-38.9) in females, FFMI of 14.7 (14.2-15.8). Twenty (48.6 %) patients presented FFM malnutrition, with 16.7 % of males and 59.1 % of females being affected. By SM, the FFMI was 18.7 (17.2-20.0) in males and 14.9 (14.2-15.8) in females; moreover, sixteen (39.1 %) patients presented malnutrition of FFM, with 20.8 % of males and 61.8 % of females being affected. For FFM (kg), a high concordance was obtained between SM and DXA (intraclass correlation coefficient of 0.950); likewise when they were compared by applying the ESPEN criteria for FFM malnutrition. However, when the techniques were compared to classify malnutrition according to FFMI, the kappa coefficient was only moderate (k = 0.440). The mean difference between FFM by DXA and SM was +1.44 ± 0.62 kg in favor of SM, with greater dispersion as FFM increased. Conclusions: the prevalence of FFM malnutrition is high in adult CF patients, despite a normal BMI, especially in females. Notwithstanding the good statistical agreement between SM and DXA, concordance was moderate. Therefore, DXA remains the technique of choice, and SM may be used when the former is not available.

Introducción: Introducción: pocos estudios han evaluado la composición corporal (BC) mediante diferentes técnicas y el grado de concordancia entre ellas en adultos con fibrosis quística (FQ). Objetivos: describir la BC mediante técnicas de evaluación nutricional y comprobar su concordancia en la FQ. Métodos: estudio transversal de adultos con FQ en situación de estabilidad clínica. La evaluación nutricional se realizó mediante medición de pliegues cutáneos (SM) y densitometría (DXA). También se determinó el índice de masa libre de grasa (FFMI). El diagnóstico de desnutrición se estableció si el índice de masa corporal era < 18,5 kg/m2. Se diagnosticó desnutrición por masa libre de grasa (FFM) cuando el FFMI era < 17 kg/m2 en 4 hombres y < 15 kg/m2 en mujeres (FFMI: masa libre de grasa en kg/estatura en m2). Resultados: se estudiaron 41 pacientes (22 mujeres (53,7 %), con una edad media de 29,8 años (rango intercuartílico, 20,9-33,7) e IMC de 21,6 (19,8-23,0). Solo 4 (9,8 %) pacientes tenían un IMC < 18,5. Mediante DXA, los resultados de FFM (kg) fueron (mediana y RIC): 52,8 (47,8-56,9) con FFMI de 17,9 (16,7-19,3) en los varones y 36,7 (33,1-38,9) en las mujeres con FFMI de 14,7 (14,2-15,8). Veinte (48,6 %) pacientes presentaban desnutrición del FFM, con el 16,7 % de varones y el 59,1 % de mujeres afectados. Mediante el SM, el FFMI fue de 18,7 (17,2-20,0) en los varones y de 14,9 (14,2-15,8) en las mujeres. En el caso de la FFM (kg), se obtuvo una alta concordancia entre el SM y la DXA (coeficiente de correlación intraclase de 0,950); igualmente cuando se compararon las técnicas aplicando los criterios ESPEN para la desnutrición de la FFM. Sin embargo, cuando se compararon las técnicas para clasificar la malnutrición según el FFMI, el coeficiente kappa fue solo moderado (coeficiente kappa = 0,440). La diferencia media entre el FFM por DXA y el SM fue de +1,44 ± 0,62 kg a favor del SM, con mayor dispersión a medida que aumenta el FFM. Conclusiones: la prevalencia de la malnutrición por FFM es elevada en pacientes adultos con FQ, a pesar de presentar un IMC normal, especialmente en el caso de las mujeres. A pesar de existir una buena correlación estadística entre el SM y la DXA, la concordancia fue moderada. Por lo tanto, la DXA sigue siendo la técnica de elección y el SM puede ser una alternativa cuando la DXA no esté disponible.

The economic cost of not coding disease-related malnutrition: A study in cancer inpatients.

BACKGROUND & AIMS: Disease-related malnutrition (DRM) coding rate is usually low in hospitalised patients. The objective of our study was to estimate the percentage of correct DRM coding in cancer inpatients and to calculate the economic losses caused by such lack of coding. METHODS: This was an observational, prospective study that was conducted in patients hospitalised in the Medical Oncology Unit of our hospital. A nutritional assessment was performed through subjective global assessment (SGA). The all patient refined-diagnosis related group (APR-DRG) weights were obtained at the moment of discharge; moreover, recalculation was done after including the diagnosis of malnutrition in the medical record of those patients in whom it had not been initially coded. The associated cost reimbursement were calculated based on the weight before and after revising the diagnosis of DRM. RESULTS: A total of 266 patients were evaluated. From them, 220 (82.7%) suffered from DRM according to the SGA. In 137 (51.5%) of these patients, diagnosis was coded, as opposed to 83 (31.2%) cases (33 subjects with moderate and 50 with severe DRM) in whom it was not coded. The sum of the APR-DRG weights before revising the diagnosis of malnutrition was 343.4 points (mean: 1.29 ± 0.89). Whereas, after revising the diagnosis, it increased up to 384.3 (1.44 ± 0.96). The total cost reimbursement for the hospital before revising the diagnosis of malnutrition was 1,607,861.21€ and after revision it increased up to 1,799,199.69€, which means that 191,338.48€ were not reimbursed to the hospital due to the lack of coding of malnutrition. The cost reimbursement for each admission increased an average of 719.32€. CONCLUSION: The prevalence of DRM in cancer inpatients is high. Nevertheless, the diagnosis is not coded in one third of patients, which results in important economic losses for the hospitals.

Handgrip Strength: Associations with Clinical Variables, Body Composition, and Bone Mineral Density in Adults with Cystic Fibrosis.

BACKGROUND: Loss of fat-free mass (FFM) is associated with an increase in morbidity and mortality in cystic fibrosis (CF) patients. Handgrip strength (HGS) measures muscle function and may be associated with clinical parameters with prognostic value. Our objectives were to evaluate muscle strength through HGS in CF patients and to determine if there are any associations with respiratory clinical variables, FFM, and bone mineral density (BMD). METHODS: A cross-sectional study conducted in clinically stable patients. We evaluated muscle function through HGS, respiratory function-forced expiratory volume in 1 s (FEV1) (%), forced vital capacity (FVC) (%), bronchorrhea, annual exacerbations, and body composition (FFM and FFM index, FFMI: fat-free mass in kg/height in m2) and Bone Mineral Density (BMD) through densitometry (DXA). RESULTS: The study included 53 CF patients (58.5% females, mean age 28.3 ± 8.1, body mass index (BMI) 21.7 ± 3.4). The mean values for dynamometry were 40.2 ± 8.1 kg in males and 23.1 ± 7.0 kg in women, being 20.8% below the 10th percentile. Patients with lower muscle strength showed significantly more exacerbations and lower FEV1% and FVC%, as well as lower BMI, worse BMD (g/cm2), T-score, and Z-score. A significant and positive correlation was found between the mean and maximum dynamometry values and age, FVC%, BMI, FFMI, FFM (kg), and BMD. CONCLUSIONS: For adults with CF, HGS is a practical tool for assessment of health status. Low values reflect poor nutritional status and are associated with poor respiratory function, low fat-free mass and low bone mineral density.

Mechanisms Involved in the Relationship between Vitamin D and Insulin Resistance: Impact on Clinical Practice.

Recent evidence has revealed anti-inflammatory properties of vitamin D as well as extra-skeletal activity. In this context, vitamin D seems to be involved in infections, autoimmune diseases, cardiometabolic diseases, and cancer development. In recent years, the relationship between vitamin D and insulin resistance has been a topic of growing interest. Low 25-hydroxyvitamin D (25(OH)D) levels appear to be associated with most of the insulin resistance disorders described to date. In fact, vitamin D deficiency may be one of the factors accelerating the development of insulin resistance. Vitamin D deficiency is a common problem in the population and may be associated with the pathogenesis of diseases related to insulin resistance, such as obesity, diabetes, metabolic syndrome (MS) and polycystic ovary syndrome (PCOS). An important question is the identification of 25(OH)D levels capable of generating an effect on insulin resistance, glucose metabolism and to decrease the risk of developing insulin resistance related disorders. The benefits of 25(OH)D supplementation/repletion on bone health are well known, and although there is a biological plausibility linking the status of vitamin D and insulin resistance supported by basic and clinical research findings, well-designed randomized clinical trials as well as basic research are necessary to know the molecular pathways involved in this association.

CT-Determined Sarcopenia in GLIM-Defined Malnutrition and Prediction of 6-Month Mortality in Cancer Inpatients.

Our objective was to evaluate the clinical application of third lumbar vertebra (L3)-computer tomography (CT)-determined sarcopenia as a marker of muscle mass in cancer inpatients diagnosed with malnutrition according to the Global Leadership Initiative on Malnutrition (GLIM) criteria and to establish its association with 6-month mortality. METHODS: This was an observational, prospective study in patients from an inpatient oncology unit. We performed a nutritional assessment according to GLIM criteria, including muscle cross-sectional area at L3 by CT and skeletal muscle index (SMI). Six-month mortality was evaluated. RESULTS: A total of 208 patients were included. The skeletal muscle cross-sectional area at L3 was 136.2 ± 32.5 cm2 in men and 98.1 ± 21.2 cm2 in women. The SMI was 47.4 ± 12.3 cm2/m2 in men and 38.7 ± 8.3 cm2/m2 in women. Sarcopenia (low SMI) was detected in 59.6% of the subjects. Using SMI as a marker of low muscle mass in application of GLIM criteria, we found 183 (87.9%) malnourished patients. There were 104 deaths (50%) at 6 months. The deceased patients had a lower skeletal muscle cross-sectional area (112.9 ± 27.9 vs. 126.1 ± 37.8 cm2; p = 0.003) and a lower SMI (41.3 ± 9.5 vs. 45.7 ± 12.9 cm2/m2; p = 0.006). An increased risk of 6-month mortality was found in malnourished patients according to GLIM criteria using SMI (HR 2.47; 95% confidence interval 1.07-5.68; p = 0.033). CONCLUSIONS: Low muscle mass, assessed by L3-CT, was observed to affect more than half of cancer inpatients. The deceased patients at 6 months had a lower skeletal muscle cross-sectional area and SMI. Malnutrition according to GLIM criteria using CT-determined sarcopenia was shown to adequately predict 6-month mortality.

Hypophosphatasia: A Unique Disorder of Bone Mineralization.

Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5'-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. Patients with HPP present at least one mutation in the ALPL gene. However, it is known that there are other causes that lead to decreased alkaline phosphatase (ALP) levels without mutations in the ALPL gene. Although the phenotype can be correlated with the genotype in HPP, the prediction of the phenotype from the genotype cannot be made with complete certainty. The availability of a specific enzyme replacement therapy for HPP undoubtedly represents an advance in therapeutic strategy, especially in severe forms of the disease in pediatric patients.

Prevalence of diabetes mellitus in patients with home enteral nutrition / Prevalencia de diabetes mellitus en pacientes con nutrición enteral domiciliaria

BACKGROUND: There are few data available in the literature on the prevalence of diabetes mellitus (DM) in patients with home enteral nutrition (HEN) via tube feeding. The objective was to analyze the prevalence of DM in patients receiving HEN, as well as evaluating the complications, the prescribed antidiabetic treatments and the nutrition regimen selected. DESIGN: This was a retrospective, single-center, observational study reviewing clinical histories. The population consisted of patients over 18 years of age who started HEN by tube between January 2016 and January 2018. Sociodemographic variables were recorded, as well as variables related to HEN. Additional variables were recorded in patients with DM. RESULTS: In the 198 study patients, followed up for a median of 104 days, the prevalence of DM was 31.8%, and patients with DM were older (71.3±11.5 vs. 64.2±15.8; p = 0.002) than those without DM. There were no differences between patients with and without DM as regards the prescription of HEN, its route and form of administration, and its complications. One hundred and thirty-two patients (66.7%) died during follow-up. The presence of DM did not increase the risk of death during follow-up (after adjusting for age, gender, and diagnosis). More than 85% of patients with DM received a specific formula for diabetes, and 84.1% of these patients received drug treatment. CONCLUSION: The prevalence of DM was high in patients receiving HEN, most of whom were prescribed specific enteral nutrition formulas. The presence of DM was not associated with greater morbidity and mortality or with differences in HEN regimens or indications

INTRODUCCIÓN: Existen pocos datos en la literatura sobre la prevalencia de la diabetes mellitus (DM) en los pacientes con nutrición enteral domiciliaria (NED) por sonda. El objetivo es analizar la prevalencia de los pacientes con DM en NED, las complicaciones, el tratamiento antidiabético y las pautas nutricionales escogidas. DISEÑO: Estudio observacional retrospectivo unicéntrico con revisión de historias clínicas. Población: pacientes mayores de 18 años que iniciaron NED y ambulatoria mediante sonda desde enero de 2016 a enero de 2018. Se recogieron variables sociodemográficas y relacionadas con la NED. En personas con DM se recogieron otras variables adicionales. RESULTADOS: Ciento noventa y ocho pacientes con una mediana de seguimiento de 104 días. La prevalencia de la DM fue del 31,8%, con mayor edad (71,3±11,5 vs. 64,2±15,8; p = 0,002) que los no DM. No encontramos diferencias entre personas con DM y sin ella respecto a la indicación de la NED, vía y forma de administración ni complicaciones mecánicas o infecciosas. Fallecieron 132 pacientes (66,7%) durante el seguimiento. La presencia de diabetes no incrementó el riesgo de fallecer durante el seguimiento (ajustado por la edad, el género y el diagnóstico). Más del 85% de los pacientes con DM recibieron una fórmula específica para diabetes. El 84,1% de los pacientes con DM recibieron tratamiento farmacológico. CONCLUSIÓN: En pacientes con NED por sonda, la prevalencia de DM fue elevada, y los pacientes recibieron mayoritariamente fórmulas nutricionales específicas. La presencia de diabetes no se asoció con una mayor morbimortalidad o diferencias en las pautas o indicaciones de la NED

Satisfacción con el menú hospitalario e incorporación del yogur líquido de cabra como postre / Satisfaction with the hospital menu and incorporation of drinkable goat milk yogurt as a dessert

INTRODUCCIÓN: la valoración de los menús hospitalarios debe realizarse periódicamente para adecuarlos a las necesidades de los pacientes. El yogur líquido de leche de cabra podría tener ventajas nutricionales en comparación con el de vaca. OBJETIVOS: evaluar la satisfacción de los pacientes con el menú hospitalario y con la incorporación del yogur líquido de leche de cabra, suministrado como postre en el menú hospitalario, en comparación con un postre lácteo de vaca. MATERIAL Y MÉTODOS: se realizó una encuesta de satisfacción con el menú hospitalario y con el postre (yogur de cabra no edulcorado frente a postre lácteo de vaca edulcorado (yogur o arroz con leche)) a pacientes ingresados con dietas basales. RESULTADOS: se analizaron 214 encuestas. El 43,9 % de los encuestados fueron mujeres. La edad media fue de 62,1 ± 15,8 años y la estancia media de los pacientes de 14,1 ± 20,1 días. La aceptación del menú hospitalario se valoró como buena por un alto porcentaje de los encuestados (temperatura, 90,9 %; preparación, 75,6 %; presentación, 88,9 %; horario, 73,7 %). La satisfacción global con el almuerzo (de 1 a 10) fue de 7,5 ± 2,1 en los pacientes que tomaron yogur líquido de leche de cabra frente a 7,4 ± 2,2 en los que tomaron el postre lácteo de vaca (NS); con el postre fue de 6,1 ± 3,2 frente a 7,9 ± 2,5 (p < 0,000), respectivamente. CONCLUSIONES: la satisfacción global con el menú hospitalario fue alta y la aceptación del postre de yogur líquido de cabra fue menor que la observada con el postre lácteo de vaca. La ausencia de edulcorantes en el primero pudo influir en los resultados

INTRODUCTION: an assessment of hospital menus should be regularly performed to suit the needs of patients. Drinkable goat milk yogurt could have nutritional advantages over the cow's milk variety. OBJECTIVES: to evaluate the satisfaction of patients with the hospital menu and with the inclusion therein of drinkable goat milk yogurt as a dessert as compared to a cow milk dessert. MATERIAL AND METHODS: a satisfaction survey for the hospital menu and its included dessert (non-sweetened goat milk yogurt vs a sweetened cow's milk dessert (yogurt or rice pudding)) was conducted in patients admitted with baseline diets. RESULTS: in all, 214 responses were analyzed: 43.9 % of respondents were women. Mean age was 62.1 ± 15.8 years, and average patient stay was 14.1 ± 20.1 days. Acceptance of the hospital menu was rated as good in a high percentage of respondents (temperature, 90.9 %; preparation, 75.6 %; presentation, 88.9 %; time schedule, 73.7 %). Overall satisfaction with the lunch meal (1 to 10) was 7.5 ± 2.1 in patients who took the drinkable goat milk yogurt vs 7.4 ± 2.2 in those who took the cow's milk dessert (NS); satisfaction with the dessert was 6.1 ± 3.2 vs 7.9 ± 2.5 (p < 0.000), respectively. CONCLUSIONS: overall satisfaction with the hospital menu was high, and the acceptance of the liquid goat milk yogurt was lower than that observed for the cow's milk dessert. The absence of sweeteners in the former may have influenced the results obtained

[Satisfaction with the hospital menu and incorporation of drinkable goat milk yogurt as a dessert]. / Satisfacción con el menú hospitalario e incorporación del yogur líquido de cabra como postre.

INTRODUCTION: Introduction: an assessment of hospital menus should be regularly performed to suit the needs of patients. Drinkable goat milk yogurt could have nutritional advantages over the cow's milk variety. Objectives: to evaluate the satisfaction of patients with the hospital menu and with the inclusion therein of drinkable goat milk yogurt as a dessert as compared to a cow milk dessert. Material and methods: a satisfaction survey for the hospital menu and its included dessert (non-sweetened goat milk yogurt vs a sweetened cow's milk dessert (yogurt or rice pudding)) was conducted in patients admitted with baseline diets. Results: in all, 214 responses were analyzed: 43.9% of respondents were women. Mean age was 62.1 ± 15.8 years, and average patient stay was 14.1 ± 20.1 days. Acceptance of the hospital menu was rated as good in a high percentage of respondents (temperature, 90.9%; preparation, 75.6%; presentation, 88.9%; time schedule, 73.7%). Overall satisfaction with the lunch meal (1 to 10) was 7.5 ± 2.1 in patients who took the drinkable goat milk yogurt vs 7.4 ± 2.2 in those who took the cow's milk dessert (NS); satisfaction with the dessert was 6.1 ± 3.2 vs 7.9 ± 2.5 (p < 0.000), respectively. Conclusions: overall satisfaction with the hospital menu was high, and the acceptance of the liquid goat milk yogurt was lower than that observed for the cow's milk dessert. The absence of sweeteners in the former may have influenced the results obtained.

INTRODUCCIÓN: Introducción: la valoración de los menús hospitalarios debe realizarse periódicamente para adecuarlos a las necesidades de los pacientes. El yogur líquido de leche de cabra podría tener ventajas nutricionales en comparación con el de vaca. Objetivos: evaluar la satisfacción de los pacientes con el menú hospitalario y con la incorporación del yogur líquido de leche de cabra, suministrado como postre en el menú hospitalario, en comparación con un postre lácteo de vaca. Material y métodos: se realizó una encuesta de satisfacción con el menú hospitalario y con el postre (yogur de cabra no edulcorado frente a postre lácteo de vaca edulcorado (yogur o arroz con leche)) a pacientes ingresados con dietas basales. Resultados: se analizaron 214 encuestas. El 43,9% de los encuestados fueron mujeres. La edad media fue de 62,1 ± 15,8 años y la estancia media de los pacientes de 14,1 ± 20,1 días. La aceptación del menú hospitalario se valoró como buena por un alto porcentaje de los encuestados (temperatura, 90,9%; preparación, 75,6%; presentación, 88,9%; horario, 73,7%). La satisfacción global con el almuerzo (de 1 a 10) fue de 7,5 ± 2,1 en los pacientes que tomaron yogur líquido de leche de cabra frente a 7,4 ± 2,2 en los que tomaron el postre lácteo de vaca (NS); con el postre fue de 6,1 ± 3,2 frente a 7,9 ± 2,5 (p < 0,000), respectivamente. Conclusiones: la satisfacción global con el menú hospitalario fue alta y la aceptación del postre de yogur líquido de cabra fue menor que la observada con el postre lácteo de vaca. La ausencia de edulcorantes en el primero pudo influir en los resultados.