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Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder. [ABSTRACT FROM AUTHOR]

40-80% of cancer patients suffer from diverse degrees of malnutrition, depending on tumor subtype, location and staging and treatment strategy. Malnutrition is associated with increased morbidity and mortality in cancer patients. Both the high prevalence and prognostic significance of malnutrition imply the need for accurate malnutrition screening in cancer patients, which could select those patients at risk of nutritional derangements who would benefit from nutritional therapy. Patient-generated subjective global screening (VSG-GP) remains the reference malnutrition screening method, but its complexity and training requirements prevent wider applicability by oncologists. Thus, easier, more clinic-based malnutrition screening tools are required for cancer patients. In this article we propose a basic screening tool based on three items: weight loss, changes in physical activity and decrease in food intake. Two affirmative responses out of the three questions is considered as a positive response, and would prompt expert nutritional assessment. RESULTS: Our screening interview showed positive correlation with VSG-GP (ROC 0.85, p<0.001) and allowed for a rapid and accurate identification of patients with cancer-related malnutrition. [ABSTRACT FROM AUTHOR]

Chylous ascites derives from chyle leakage into the peritoneal cavity, either due to rupture or obstruction of abdominal lymphatic vessels. The main clinical sign is abdominal distention, while diagnosis requires the presence of triglycerides in ascitic fluid. Neoplasms are the most common cause of chylous ascites, although less common causes, such as abdominal surgery, should also be considered. The mainstay of therapy is hyperproteic diet with fat restriction and middle-chain triglycerides. Parenteral nutrition is reserved for cases in which dietary treatment fails to restore an optimal nutritional status or is contraindicated, whereas surgery is considered for patients that are deemed refractory to conservative therapy. We present a case of chylous ascites secondary to retroperitoneal lymphadenectomy. [ABSTRACT FROM AUTHOR]

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., Competing Interests: Conflict of interest Dr. C.C. reports personal fees from Takeda, personal fees from Fresenius Kabi, personal fees from Baxter, personal fees from Nutricia, personal fees from Persan Farma, outside the submitted work. The rest of the authors declare no conflict of interest related to this article. The authors declare that the funding provider was not involved in analyzing and dissemination of the study results, and that no conflict of interest exists with this organization., (Copyright © 2021 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Introduction: Surgical stress predisposes patients to have immune dysfunction and an increased risk of infection. Malnourished surgical patients have higher postoperative morbidity and mortality rates, higher readmission rates, and higher hospital costs. The use of an immunomodulatory formula is associated in the ESPEN guidelines with a reduction in wound healing problems, suture failure, and infectious and global complications. Several authors have suggested that, since most clinical trials evaluating the efficacy of immunonutrition have been carried out in a traditional perioperative setting, it would be interesting to investigate its efficacy in a more controlled setting, such as in the ERAS (Enhanced Recovery after Surgery) protocol. The objective of this work was: a) to define the role that immunonutrition should play in ERAS protocols based on the best scientific evidence available; b) to analyze the difficulties that continue to exist in real-life clinical practice to screen the nutritional risk of patients; c) to make a proposal of algorithms adapted to the characteristics of our environment regarding the screening, assessment, and nutritional treatment of surgical patients in fast-track surgery.

Background and Objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1., Material and Methods: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide., Recommendations: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives., Conclusion: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up., (Copyright © 2018 Elsevier España, S.L.U. All rights reserved.)

Background and Objective: Osteogenesis imperfecta (OI) is a genetic disorder that results in bone fragility. Several studies have demonstrated the effectiveness of bisphosphonate therapy. The aim of this study was to evaluate the effects of intravenous zoledronic acid on bone mineral density (BMD) and biochemical markers of bone turnover in adults with OI., Material and Methods: We carried out a prospective non-randomized study in patients with osteoporosis or severe osteopenia (T score < -2) related to OI and intolerance or contraindication to oral bisphosphonates. The patients were treated with a zoledronic acid infusion every 6 months. Densitometry was carried out annually. Calcium (Ca), phosphate (P), intact parathormone (PTH), 25 hydroxyvitamin D and biochemical markers of bone turnover [bone alkaline phosphatase (BAP), beta-cross-laps (CTX) and urinary deoxypyridoxine (DOP)] were measured every year. Adverse events and new fractures were registered., Results: Ten patients (2 men and 8 women) were treated. Treatment increased BMD measured in the lumbar spine after 24 (0.738+/-0.141 vs 0.788+/-0.144 g/cm(2); p=0.048) and 36 months (0.720+/-0.139 vs 0.820+/-0.128; p=0.01). Significant increases in BMD were also observed after 24 months in the femoral neck (0.677+/-0.121 vs 0.703+/-0.122 g/cm(2); p<0.016). Serum Ca, P, BAP and CTX concentrations remained unchanged. PTH concentrations increased and vitamin D concentrations decreased after 36 months of treatment. DOP excretion decreased significantly after 24 months. Seven patients had mild influenza-like symptoms occurring within the first 24 h after the first infusion. No severe adverse events were observed. None of the patients had new fractures., Conclusion: Zoledronic acid seems to be a safe and effective treatment option in adults with osteoporosis related to OI., (2009 SEEN. Published by Elsevier Espana. All rights reserved.)

Objective: Metabolic syndrome consists of a group of factors that predict the risk of having an acute cardiovascular event. Some of these factors increase the risk of myocardial infarction and are also associated with the severity of cardiovascular events. The objective was to determine the influence of factors associated with metabolic syndrome, and especially abdominal obesity, on the size of coronary events, estimated by the concentration of total creatine phosphokinase (CPK) and CPK-MB isoenzyme (CPK-MB)., Subjects and Method: We performed a cross-sectional study of 40 men diagnosed with acute coronary syndrome. We collected clinical data (age, history of diabetes, dyslipidemia and hypertension ) and anthropometric data [body mass index (BMI), waist circumference (WC) and waist-to-height ratio (WHR)]. CPK and CPK-MB concentrations were measured to determine the maximum concentration reached in order to estimate the size of the myocardial infarction area., Results: The prevalence of metabolic syndrome was 30%. Approximately 84% of the patients were overweight and 42% had abdominal obesity. A positive association was found between myocardial enzymes and anthropometric parameters (BMI, WC, WHR). The variable showing the closest association with the size of myocardial infarction was central obesity [total CPK, r (Pearson) = 0.47; p<0.003] and (CPK-MB, r= 0.4; p<0.01). Metabolic syndrome was not a predictive factor for the size of myocardial necrosis (beta=-0.29; p<0.1). Multiple regression analysis showed that WC predicted maximal total CPK (beta=37.15; 95% CI, 9.16-65.15; p<0.01) and CPK-MB concentrations (beta=5.7; 95% CI, -0.4-11.9; p< 0.06) after an acute coronary event., Conclusions: The presence of abdominal obesity was associated with greater myocardial necrosis size after an acute coronary event.

Familial hypocalciuric hypercalcemia, also denominated familial benign hypercalcemia, is an uncommon cause of hypercalcemia. It is caused by mutations of the calcium-sensing receptor, which are inherited in an autosomal dominant high-penetrance fashion. Generally, patients are asymptomatic, and heterozygote cases are diagnosed in childhood or adulthood, when diagnostic work-up of an incidentally discovered hypercalcemia ensues. This disorder is characterized by moderate hypercalcemia, with normal parathormone levels and low urine calcium excretion. It is very important to diagnose this condition, as it does not require surgical procedures, unlike primary hyperparathyroidism, which needs parathyroidectomy in 50% of cases. We present 3 cases of familial hypocalciuric hypercalcemia belonging to the same family, and provide an updated review on the topic., (Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.)

Adrenal myelolipomas are rare benign tumors comprising mature adipose tissue and diverse hematopoietic elements. These neoplasms are usually incidental findings, although bulky masses can generate abdominal pain as well as other symptoms related to compression of adjacent organs. Diagnosis is usually provided by ultrasonography or computed tomography. Asymptomatic patients with tumors with a maximum diameter of less than 6cm can benefit from periodic surveillance, whereas local compression symptoms and size larger than 6cm are indications for surgical treatment. We present a case of giant adrenal myelolipoma and provide a review of the literature., (Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.)

We report the case of a 16-year-old girl with a history of idiopathic precocious puberty and normal results on pituitary imaging scan. Ten years later, a new cranial magnetic resonance imaging scan was performed due to worsening of episodes resembling Horton's headache and a lesion suggestive of pituitary bleeding was detected. The headaches diminished with glucocorticoid administration but a severe complication, steroid psychosis, occurred. Surgical treatment and pathological study of the lesion led to the differential diagnosis between craniopharyngyoma and xanthogranuloma of the sella turcica. The clinical progression of the tumor (not visualized 10 years previously), together with preservation of pituitary and visual function both before and after surgery, gross total removal of the tumor (difficult to achieve with craniopharyngioma) and the absence of recurrence provide strong support for the diagnosis of xanthogranuloma of the sella turcica., (Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.)

Menopause is one of the critical periods of a woman's life during which weight gain and onset or worsening of obesity are favoured. It is at this period when obesity prevalence is the highest. There are several causes for this disorder, ones clearly related with hypo-oestrogenism and others depend on age favouring increased food intake and decreased energy waste. This weight gain is related to adverse health effects that get worse due to changes in fat distribution observed during menopause. The increase in visceral fat favours the development of insulin resistance and its clinical consequences such as carbohydrate metabolism impairments and type 2 diabetes, arterial hypertension, and dyslipidaemia, leading to increased cardiovascular risk, among other complications.