Diet and Nutrients in Rare Neurological Disorders: Biological, Biochemical, and Pathophysiological Evidence.

Background/Objectives: Rare diseases are a wide and heterogeneous group of multisystem life-threatening or chronically debilitating clinical conditions with reduced life expectancy and a relevant mortality rate in childhood. Some of these disorders have typical neurological symptoms, presenting from birth to adulthood. Dietary patterns and nutritional compounds play key roles in the onset and progression of neurological disorders, and the impact of alimentary needs must be enlightened especially in rare neurological diseases. This work aims to collect the in vitro, in vivo, and clinical evidence on the effects of diet and of nutrient intake on some rare neurological disorders, including some genetic diseases, and rare brain tumors. Herein, those aspects are critically linked to the genetic, biological, biochemical, and pathophysiological hallmarks typical of each disorder. Methods: By searching the major web-based databases (PubMed, Web of Science Core Collection, DynaMed, and Clinicaltrials.gov), we try to sum up and improve our understanding of the emerging role of nutrition as both first-line therapy and risk factors in rare neurological diseases. Results: In line with the increasing number of consensus opinions suggesting that nutrients should receive the same attention as pharmacological treatments, the results of this work pointed out that a standard dietary recommendation in a specific rare disease is often limited by the heterogeneity of occurrent genetic mutations and by the variability of pathophysiological manifestation. Conclusions: In conclusion, we hope that the knowledge gaps identified here may inspire further research for a better evaluation of molecular mechanisms and long-term effects.

Unlocking Dietary Strategies to Combat Neurological Disorders.

The acquisition of novel insights derived from the biological and genetic profiles of patients will pave the way for tailored interventions and guidance, facilitated by pioneering methodologies and investigations in research. Such advancements will lead to shifts in dietary patterns and proactively mitigate the onset of neurological disorders.

Therapeutic potential of the ketogenic diet: A metabolic switch with implications for neurological disorders, the gut-brain axis, and cardiovascular diseases.

The Ketogenic Diet (KD) is a dietary regimen that is low in carbohydrates, high in fats, and contains adequate protein. It is designed to mimic the metabolic state of fasting. This diet triggers the production of ketone bodies through a process known as ketosis. The primary objective of KD is to induce and sustain ketosis, which has been associated with numerous health benefits. Recent research has uncovered promising therapeutic potential for KD in the treatment of various diseases. This includes evidence of its effectiveness as a dietary strategy for managing intractable epilepsy, a form of epilepsy that is resistant to medication. We are currently assessing the efficacy and safety of KD through laboratory and clinical studies. This review focuses on the anti-inflammatory properties of the KD and its potential benefits for neurological disorders and the gut-brain axis. We also explore the existing literature on the potential effects of KD on cardiac health. Our aim is to provide a comprehensive overview of the current knowledge in these areas. Given the encouraging preliminary evidence of its therapeutic effects and the growing understanding of its mechanisms of action, randomized controlled trials are warranted to further explore the rationale behind the clinical use of KD. These trials will ultimately enhance our understanding of how KD functions and its potential benefits for various health conditions. We hope that our research will contribute to the body of knowledge in this field and provide valuable insights for future studies.

Literature Review: Support for caregivers of children on the ketogenic diet for epilepsy and other neurologic disorders.

Epilepsy affects millions of people and when medications are insufficient to maintain seizure control, individuals are diagnosed with refractory epilepsy (RE). Medical ketogenic diet therapy (KDT), a diet high in fat and low in carbohydrates and sufficient in protein, is a well-established treatment for RE. However, compliance is one of the main reasons for discontinuation of KDT and, with pediatric RE patients, the ability of informal caregivers, typically family members, to maintain diet adherence is vital for successful KDT treatment. The central role that informal caregivers play for effective KDT implementation is recognized, however, there is a need to elucidate the rationale and theoretical underpinnings of effective KDT caregiver support programs to inform best practices. Therefore, this systematic literature review aims to identify the existing fundamental understandings of KDT caregiver support to help build a foundation of theory-based knowledge to promote evidenced practice. After screening 137 publications, three studies that discussed potential underlying components of effective caregiver support were included in this review. These articles followed a similar approach as they 1) employed qualitative methods delving into caregiver needs, 2) findings highlighted the importance of support from family, friends, fellow caregivers and their child's medical team, and 3) the inclusion of caregiver support findings were a supplement to the main purpose of the manuscript. Research focused on KDT caregivers is in its infancy. There is a clear need for the systematic examination of support for KDT caregivers to build a foundation for effective support programs and to increase the access to quality support programming to foster KDT implementation, desirable patient outcomes, and caregiver well being. In this article we discuss opportunities to apply self-determination theory to the KDT caregiver support research and practice.

The impact of low-energy, partially hydrolysed enteral formula on gastrointestinal symptoms and weight in children with neurological impairment: a multicentre retrospective study.

BACKGROUND: Neurological impairment (NI) relates to disorders of the central nervous system. The specific aetiology of NI varies but includes genetic, congenital abnormalities or brain injury. In children with severe NI, feeding impairments can lead to undernutrition, and some children require a feeding tube. Although tube feeding improves overall nutritional status, it has also been associated with excess body fat. Commercially available enteral formulas that are low in energy, hydrolysed and nutritionally adequate for protein and micronutrients are available to mitigate gastrointestinal symptoms and obesity. METHODS: This is a retrospective multicentre study of children who attended NI clinics between January 2022 and July 2023. Data were collected before and 1 month after receiving a low-energy, partially hydrolysed enteral formula (0.6 kcal/mL) on demographic data (age, sex, ethnicity and NI diagnosis), anthropometric measurements (weight, height, weight-for-age Z-score, height-for-age Z-score, body mass index [BMI] Z-score) and feed regimen (feed volume, total fluids and type of formula/supplements). RESULTS: Dietitians collected data on 28 children, the median age was 7 years (interquartile range [IQR] 3, 8). The most frequently recorded NI was cerebral palsy, in 13 of 28 children (48%). Before the formula switch, the most frequently reported gastrointestinal symptom was constipation, in 13 of 28 children. Within 1 month of switching to a low-energy, hydrolysed formula, 10 of the 13 (77%) children reported an improvement in constipation. Before the formula switch, all 28 children were experiencing excessive weight gain. After the formula was switched to low-energy, hydrolysed formula, dietitians reported that 20 of the 28 (76%) children's weight either stabilised or reduced after 1 month. There was no statistically significant difference in weight-for-age Z-score or BMI Z-scores postswitch of formula (p-value 0.1 and 0.09, respectively). Fibre intake increased significantly from 3.3 to 8.1 g/day (p-value < 0.01) after formula switch. The number of children whose feed regimens were simplified after switching to a low-energy, partially hydrolysed formula was 24 of 28 (91%). CONCLUSIONS: Children with an NI who have gastrointestinal symptoms may benefit from a low-energy, hydrolysed enteral formula to maximise feed tolerance and promote healthy weight gain. In addition, changing to a low-energy, hydrolysed formula may simplify feed regimens by eliminating the need for additional electrolytes, multivitamins and fluid boluses. Healthcare professionals should be knowledgeable about the effectiveness and availability of a low-energy, hydrolysed formula.

Scoping Review of Available Culinary Nutrition Interventions for People with Neurological Conditions.

People with neurological conditions may face barriers to meal preparation. Culinary nutrition interventions aim to facilitate the building of knowledge and skills for meal preparation. This scoping review aims to map the available evidence for culinary nutrition interventions for people with neurological conditions and evaluate the quality of these interventions based on program design, delivery and evaluation. After a systematic search of online databases (MEDLINE, CINAHL, Embase, Scopus and Proquest) and reference lists, a total of ten publications describing nine interventions were included. Most interventions were designed for people with stroke and/or Transient Ischemic Attack (n = 3) and Multiple Sclerosis (n = 3); others were for traumatic brain injury (n = 1), mild dementia (n = 1) and Parkinson's Disease (n = 1). Overall, the included culinary nutrition interventions had good program delivery (inclusion of motivational experiences, delivered by appropriate health providers) but needed improvements in program design (lack of consumer engagement and neurological symptom accommodations) and evaluation (lack of complete process, outcome and impact evaluations). In conclusion, the evidence base for culinary nutrition interventions for people with neurological conditions remains sparse. To bridge the gap between theory and practice, it is important to consider the following aspects in culinary nutrition intervention planning/improvement: (I) the involvement of consumers; (II) the accommodation/tailoring for post-condition effects; and (III) the coverage of all disease-specific culinary nutrition aspects.

Therapeutic Potential of Natural Compounds from Herbs and Nutraceuticals in Alleviating Neurological Disorders: Targeting the Wnt Signaling Pathway.

As an important signaling pathway in multicellular eukaryotes, the Wnt signaling pathway participates in a variety of physiological processes. Recent studies have confirmed that the Wnt signaling pathway plays an important role in neurological disorders such as stroke, Alzheimer's disease, and Parkinson's disease. The regulation of Wnt signaling by natural compounds in herbal medicines and nutraceuticals has emerged as a potential strategy for the development of new drugs for neurological disorders. Purpose: The aim of this review is to evaluate the latest research results on the efficacy of natural compounds derived from herbs and nutraceuticals in the prevention and treatment of neurological disorders by regulating the Wnt pathway in vivo and in vitro. A manual and electronic search was performed for English articles available from PubMed, Web of Science, and ScienceDirect from the January 2010 to February 2023. Keywords used for the search engines were "natural products,″ "plant derived products,″ "Wnt+ clinical trials,″ and "Wnt+,″ and/or paired with "natural products″/″plant derived products", and "neurological disorders." A total of 22 articles were enrolled in this review, and a variety of natural compounds from herbal medicine and nutritional foods have been shown to exert therapeutic effects on neurological disorders through the Wnt pathway, including curcumin, resveratrol, and querctrin, etc. These natural products possess antioxidant, anti-inflammatory, and angiogenic properties, confer neurovascular unit and blood-brain barrier integrity protection, and affect neural stem cell differentiation, synaptic formation, and neurogenesis, to play a therapeutic role in neurological disorders. In various in vivo and in vitro studies and clinical trials, these natural compounds have been shown to be safe and tolerable with few adverse effects. Natural compounds may serve a therapeutic role in neurological disorders by regulating the Wnt pathway. This summary of the research progress of natural compounds targeting the Wnt pathway may provide new insights for the treatment of neurological disorders and potential targets for the development of new drugs.

Phenotype assessment in neurologically impaired paediatric patients: Impact of a nutrition intervention protocol.

BACKGROUND: Deficits in nutritional status and functional feeding disorders are common in Neurologically Impaired Paediatric Patients (NIPP). Interventions addressing these problems could offer better overall health status and quality of life in this group of patients, but the extent of their effectiveness is yet to be determined. Recent guidelines concerning the nutritional care of NIPP have been published from ESPGHAN but compliance to them has not been assessed. AIM: The study aimed to assess the phenotypic profile of a group of NIPP attending the outpatient clinic of a pediatric department, and to implement, for the first time to our knowledge, an individualized nutritional intervention protocol following ESPGHAN guidelines 2017 as well as to assess the impact on phenotypic parameters and nutritional status. PATIENTS AND METHODS: 68NIPP and their caregivers aged 1m-17 years (83.8% suffering from cerebral palsy (CP) were invited to assess their phenotypic parameters and to implement in a nutrition intervention protocol in order to improve their dietary intake and nutritional status. Anthropometry (weight, height, triceps skinfold thickness, mid upper arm circumference) was expressed as z-scores for age and sex using WHO Anthro software and classified following the WHO criteria. Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), Dysphagia Disorder Survey (DDS), Saliva Severity Scale (SSS), gastrointestinal complications, energy and nutrient intake were assessed at the beginning (zero point), after 6 (point 1) and 12 (point 2) months period. Intake to Requirement ratio (I/R) was derived. At zero point, following the baseline evaluation, caregivers were advised and educated on nutrition protocol and customized nutrition plans were handed out. The impact of the nutritional intervention on the phenotypic parameters was recorded on follow up visits (points 1, 2).The primary outcomes analyzed were anthropometric parameters (Waz), as indicators of nutritional status. GMFCS, MACS, DDS, SSS, FA were evaluated as possible predictors of this outcome. Secondary outcomes included the impact of the intervention protocol on the phenotypic parameters during the study period. RESULTS: Based on weight for age z-score (Waz ≤ -2) (WHO) 17 patients (32.1%) were undernourished, 5/68 (10, 4%) were with triceps skinfold thickness z-score (TSTz) <-2 and 3/68 (7%) with mid upper arm circumference z-score (MUACz) <-2. Z-scores (WHO) for weight (p1 = 0, 036) (p2 = 0, 003), body mass index (BMI) (p2 = 0,000), MUAC (p1 = 0, 029) and TST (p1 = 0, 021) (p3 = 0, 044) were significantly improved in follow-up evaluations compared to the baseline. Less NIPP were found to be underweight according to Waz from point 1 to point 2 (p3 = 0, 006), as well as stunding according to height for age z-score (Haz) from point 1 to point 2 (p ≤ 0,001). Patients with higher levels of GMFCS (p1 = 0,040), MACS (p1 = 0,028) DDS (p1 = 0,001) and SSS (p1 = 0,005) had significantly lower Haz. Patients with higher levels of SSS (p1 = 0,002) had significantly lower TSTz scores. There were no significant changes in the classification of NIPP according to DDS or the patients' feeding ability. The energy (kcals) intake/kg of body weight (bw) was significantly higher at point 2 compared to point zero (p3 = 0,028), protein intake/kg of body weight was significantly higher at points 1 and 2 compared to point zero (p1 = 0,026, p3 = 0,003), and fat intake/kg of body weight (bw) was significantly higher at point 2 compared to point zero (p3 = 0,012). Intake of energy (kcals)/bw (p1 = 0,026), (p2 = 0,046), (p3 = 0,048) carbs/bw (p1 = 0,014) (p2 = 0,042), I/R of pro (p1 = 0,032), (p3 = 0,013), and fat/kg (p2 = 0, 033) (p3 = 0,037) were found to be significantly lower in higher GMFCS levels. DQI did not improve during the study period nor correlated to any of the anthropometric parameters. Gastrointestinal complications correlated with Waz (r = -, 285 p1 = 0, 011). Feeding Ability (FA) was found to be the only strong predictor for Waz at baseline evaluation (p = 0,012) when a multiple regression was run along with DDS. CONCLUSION: Underweight was detected in one third of the patients, some degree of dysphagia in 69% and gastrointestinal complications in 58.8% of the sample. Height for age z-score (Haz) was the anthropometric parameter most sensitive to the changes in ranking on motor and functional feeding scores. The implementation of a customized nutrition intervention protocol in line with ESPGHAN's guidelines had a beneficial effect on improving dietary intake and nutritional status of NIPP after a 12 months period. Better results could be expected if dysphagia and feeding ability were also addressed by appropriate intervention protocols. Patients' feeding ability is of importance for predicting Waz.

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the presymptomatic diagnosis and nutritional management of these patients. The aim of our study was to assess the nationwide impact of ENBS on clinical outcome. This retrospective study analysed acute events and chronic complications and their severity in pre-ENBS and post-ENBS cohorts. In total, 28 children (12 before, 16 after ENBS) were diagnosed with LCHADD/MTPD (incidence 0.8/100,000 before and 1.2/100,000 after ENBS). In the subgroup detected by ENBS, a significantly longer interval from birth to first acute encephalopathy was observed. In addition, improvement in neuropathy and cardiomyopathy (although statistically non-significant) was demonstrated in the post-ENBS subgroup. In the MCADD cohort, we included 69 patients (15 before, 54 after ENBS). The estimated incidence rose from 0.7/100,000 before to 4.3/100,000 after ENBS. We confirmed a significant decrease in the number of episodes of acute encephalopathy and lower proportion of intellectual disability after ENBS (p < 0.0001). The genotype-phenotype correlations suggest a new association between homozygosity for the c.1528C > G variant and more severe heart involvement in LCHADD patients.

Rice bran, an off-shoot to newer therapeutics in neurological disorders.

Normal brain functioning involves the interaction of interconnected molecular and cellular activities, which appear to alter normal to abnormal brain functioning when worsened, contributing to the emergence of neurological disorders. There are currently millions of people who are living with brain disorders globally and this will rise if suitable prevention strategies are not explored. Nutraceutical intended to treat numerous health goals with little adverse effect possible together can be more beneficial than pharmaceutical monotherapy for fostering balanced brain functioning. Nutraceutical provides a specific composition of effective macronutrients and micronutrients that are difficult to synthesize in the laboratory. Numerous elements of rice fibers in rice bran are characterized as natural anti-oxidant and having potential anti-inflammatory activity. The rice bran captures interest among the researchers as it is widespread, affordable, and rich in nutrients including protein, fat, carbohydrates, bioactive components, and dietary fiber. This review covers the neuroprotective multiplicity of rice bran and its constituents to deter pathological conditions of the brain and to facilitate balanced brain functioning at the same time.

Dietary nutrition for neurological disease therapy: Current status and future directions.

Adequate food intake and relative abundance of dietary nutrients have undisputed effects on the brain function. There is now substantial evidence that dietary nutrition aids in the prevention and remediation of neurologic symptoms in diverse pathological conditions. The newly described influences of dietary factors on the alterations of mitochondrial dysfunction, epigenetic modification and neuroinflammation are important mechanisms that are responsible for the action of nutrients on the brain health. In this review, we discuss the state of evidence supporting that distinct dietary interventions including dietary supplement and dietary restriction have the ability to tackle neurological disorders using Alzheimer's disease, Parkinson's disease, stroke, epilepsy, traumatic brain injury, amyotrophic lateral sclerosis, Huntington's disease and multiple sclerosis as examples. Additionally, it is also highlighting that diverse potential mechanisms such as metabolic control, epigenetic modification, neuroinflammation and gut-brain axis are of utmost importance for nutrient supply to the risk of neurologic condition and therapeutic response. Finally, we also highlight the novel concept that dietary nutrient intervention reshapes metabolism-epigenetics-immunity cycle to remediate brain dysfunction. Targeting metabolism-epigenetics-immunity network will delineate a new blueprint for combating neurological weaknesses.

Ketogenic diet and cognition in neurological diseases: a systematic review.

CONTEXT: In recent years, the ketogenic diet has gained special relevance as a possible therapeutic alternative to some neurological and chronic diseases. OBJECTIVE: The aim of this systematic review was to answer the following question: Does a ketogenic diet improve cognitive skills in patients with Alzheimer's disease, Parkinson's disease, refractory epilepsy, and type 1 glucose deficiency syndrome? To define the research question, the PICOS criteria were used, following the guidelines of the PRISMA method. DATA SOURCES: Medline/PubMed, Elsevier Science Direct, Dialnet, EBSCOhost, Mediagraphic, Sage Journals, ProQuest, and Wiley Online Library databases were used. DATA EXTRACTION: After applying inclusion and exclusion criteria in accordance with the PRISMA method, a total of 63 entries published between 2004 and 2019 were used. DATA ANALYSIS: The records extracted were analyzed from a qualitative approach, so no statistical analysis was carried out. CONCLUSION: Although scientific literature on the subject is scarce and there has tended to be a lack of scientific rigor, the studies reviewed confirmed the effectiveness of this diet in improving the cognitive symptomatology of the aforementioned diseases.

[Neurological pathology by liposoluble vitamin-related disorders]. / Patología neurológica por desequilibrio de vitaminas liposolubles.

INTRODUCTION: Background: the clinicians rarely have to cope with diseases of nutritional origin and scarcely, although possible, vitamins alterations produce neurological symptoms. Objectives: to show, based on two clinical cases, the neurological symptoms due to liposoluble vitamins alterations, focusing on vitamins E and A. Conclusions: it is important to consider liposoluble vitamin alterations as a cause of neurological symptoms, despite their rarity, after rolling out the most probable entities.

INTRODUCCIÓN: Introducción: en la práctica clínica hospitalaria nos enfrentamos a algunas patologías que tienen origen nutricional. Aunque rara vez, las alteraciones vitamínicas pueden desencadenar trastornos neurológicos graves. Objetivos: mostrar los síntomas neurológicos que pueden darse por alteraciones en los niveles de las vitaminas liposolubles, centrándonos en las vitaminas E y A, mediante la exposición de dos casos clínicos. Conclusiones: es importante tener en mente las alteraciones de vitaminas liposolubles como origen de un trastorno neurológico, a pesar de su escasa frecuencia, habiendo descartado primero las causas más probables.

Palmitoylethanolamide: A Nutritional Approach to Keep Neuroinflammation within Physiological Boundaries-A Systematic Review.

Neuroinflammation is a physiological response aimed at maintaining the homodynamic balance and providing the body with the fundamental resource of adaptation to endogenous and exogenous stimuli. Although the response is initiated with protective purposes, the effect may be detrimental when not regulated. The physiological control of neuroinflammation is mainly achieved via regulatory mechanisms performed by particular cells of the immune system intimately associated with or within the nervous system and named "non-neuronal cells." In particular, mast cells (within the central nervous system and in the periphery) and microglia (at spinal and supraspinal level) are involved in this control, through a close functional relationship between them and neurons (either centrally, spinal, or peripherally located). Accordingly, neuroinflammation becomes a worsening factor in many disorders whenever the non-neuronal cell supervision is inadequate. It has been shown that the regulation of non-neuronal cells-and therefore the control of neuroinflammation-depends on the local "on demand" synthesis of the endogenous lipid amide Palmitoylethanolamide and related endocannabinoids. When the balance between synthesis and degradation of this bioactive lipid mediator is disrupted in favor of reduced synthesis and/or increased degradation, the behavior of non-neuronal cells may not be appropriately regulated and neuroinflammation exceeds the physiological boundaries. In these conditions, it has been demonstrated that the increase of endogenous Palmitoylethanolamide-either by decreasing its degradation or exogenous administration-is able to keep neuroinflammation within its physiological limits. In this review the large number of studies on the benefits derived from oral administration of micronized and highly bioavailable forms of Palmitoylethanolamide is discussed, with special reference to neuroinflammatory disorders.

Ketogenic diet ­ mechanism of action and perspectives for the use in the therapy: data from clinical studies / Dieta ketogeniczna - mechanizm dzialania i perspektywy zastosowania w terapii: dane z badan klinicznych.

Ketogenic diet is a high fat and very low-carbohydrate nutritional approach that induces increased production of ketone bodies, which serve as an alternative to glucose energetic substrates. Since almost a century ketogenic diet has been used in the therapy of refractory epilepsy, especially in children. Because of the pleiotropic effect of ketogenic diet on physiology, including inflammation, oxidative stress, energy balance and signaling pathways, in recent years scientists have been intensively exploring the use of it in the treatment of other diseases. In the present article current clinical studies regarding the possibility of using the ketogenic diet in the treatment of obesity, diabetes, neurological disorders and cancer has been reviewed alongside with potential mechanisms responsible for the therapeutic effect of ketogenic diet in these diseases. The metabolic processes engaged in nutritional ketosis and practicals aspects of ketogenic dieting have been also discussed.

Mens Sana in Corpore Sano: Does the Glycemic Index Have a Role to Play?

Although diet interventions are mostly related to metabolic disorders, nowadays they are used in a wide variety of pathologies. From diabetes and obesity to cardiovascular diseases, to cancer or neurological disorders and stroke, nutritional recommendations are applied to almost all diseases. Among such disorders, metabolic disturbances and brain function and/or diseases have recently been shown to be linked. Indeed, numerous neurological functions are often associated with perturbations of whole-body energy homeostasis. In this regard, specific diets are used in various neurological conditions, such as epilepsy, stroke, or seizure recovery. In addition, Alzheimer's disease and Autism Spectrum Disorders are also considered to be putatively improved by diet interventions. Glycemic index diets are a novel developed indicator expected to anticipate the changes in blood glucose induced by specific foods and how they can affect various physiological functions. Several results have provided indications of the efficiency of low-glycemic index diets in weight management and insulin sensitivity, but also cognitive function, epilepsy treatment, stroke, and neurodegenerative diseases. Overall, studies involving the glycemic index can provide new insights into the relationship between energy homeostasis regulation and brain function or related disorders. Therefore, in this review, we will summarize the main evidence on glycemic index involvement in brain mechanisms of energy homeostasis regulation.

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.

BACKGROUND: The plasma acylcarnitine profile is frequently used as a biochemical assessment for follow-up in diagnosed patients with fatty acid oxidation disorders (FAODs). Disease specific acylcarnitine species are elevated during metabolic decompensation but there is clinical and biochemical heterogeneity among patients and limited data on the utility of an acylcarnitine profile for routine clinical monitoring. METHODS: We evaluated plasma acylcarnitine profiles from 30 diagnosed patients with long-chain FAODs (carnitine palmitoyltransferase-2 (CPT2), very long-chain acyl-CoA dehydrogenase (VLCAD), and long-chain 3-hydroxy acyl-CoA dehydrogenase or mitochondrial trifunctional protein (LCHAD/TFP) deficiencies) collected after an overnight fast, after feeding a controlled low-fat diet, and before and after moderate exercise. Our purpose was to describe the variability in this biomarker and how various physiologic states effect the acylcarnitine concentrations in circulation. RESULTS: Disease specific acylcarnitine species were higher after an overnight fast and decreased by approximately 60% two hours after a controlled breakfast meal. Moderate-intensity exercise increased the acylcarnitine species but it varied by diagnosis. When analyzed for a genotype/phenotype correlation, the presence of the common LCHADD mutation (c.1528G > C) was associated with higher levels of 3-hydroxyacylcarnitines than in patients with other mutations. CONCLUSIONS: We found that feeding consistently suppressed and that moderate intensity exercise increased disease specific acylcarnitine species, but the response to exercise was highly variable across subjects and diagnoses. The clinical utility of routine plasma acylcarnitine analysis for outpatient treatment monitoring remains questionable; however, if acylcarnitine profiles are measured in the clinical setting, standardized procedures are required for sample collection to be of value.

Home Enteral Nutrition in Adults-Nationwide Multicenter Survey.

Home enteral nutrition (HEN) is an important part of the health care system, with a growing population of patients around the world. The aim of our study was to analyze one of the largest cohorts of HEN patients to provide the most recent data available in European literature. A multicenter, nation-wide survey in the period of 1 January 2018-1 January 2019 was performed in Poland. Data concerning adult patients on HEN in 2018 during 1 year of observation time were analyzed: demographic characteristics, primary disease, technique of enteral feeding, diet formulation and amount of energy provided. A total of 4586 HEN patients (F: 46.7%, M: 53.3%) were included in the study. The primary diseases were: 54.5% neurological (17.4%-neurovascular, 13.7%-neurodegenerative), 33.9% cancer (20.2%-head and neck, 11.7%-gastrointestinal cancer), 2.5%-gastroenterology, 1.5%-inherited diseases. Of new registrations in 2018-cancer patients 46.3%, neurological patients 45.1%. The median age overall was: 64 yr., BMI-20.2 kg/m2, NRS 2002 score-4.28. A total of 65% of patients were treated with PEG, 11.6% with surgical gastrostomy, 14.3% with naso-gastric tube and 7% with jejunostomy. Boluses were the most common method of feeding (74.4%). Gravity flow was used in 17.6% and peristaltic pump was used in 8% patients. The median energy provision was 1278 kcal/day and 24 kcal/kg/day. The most commonly used diets were: isocaloric (28.1%), protein-enriched isocaloric (20%) and protein-enriched hypercaloric (12%). The median overall duration of HEN was 354 days, 615 days for neurological and 209 days for cancer patients. A number of new registrations of cancer patients was significant and long duration of HEN in this group is encouraging. A developing spectrum of enteral formulas available enables more specified nutritional interventions.

Nutraceuticals in Neurological Disorders.

Neurological diseases are one of the major healthcare issues worldwide. Posed lifestyle changes are associated with drastically increased risk of chronic illness and diseases, posing a substantial healthcare and financial burden to society globally. Researchers aim to provide fine treatment for ailing disorders with minimal exposed side effects. In recent decades, several studies on functional foods have been initiated to obtain foods that have fewer side effects and increased therapeutic activity. Hence, an attempt has been made to unravel several extraction techniques to acquire essential bioactive compounds or phytochemicals from therapeutically active food products. This has led to the conception of the term functional foods being meddled with other similar terms like "pharmafoods," "medifoods", "vitafoods", or "medicinal foods". With a dire need to adhere towards healthy options, the demand of nutraceuticals is widely increasing to combat neurological interventions. An association between food habits and the individual lifestyle with neurodegeneration has been manifested, thereby proposing the role of nutraceuticals as prophylactic treatment for neurological interventions. The current review covers some of the major neurological disorders and nutraceutical therapy in the prevention of disease.