Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye

Purpose To report 12-year follow-up of a patient with ARB. Case report A 25-year-old man presented with blurred vision in his both eyes (OU). Best-corrected visual acuity (BCVA) was 20/63 Snellen equivalent in the right eye (OD) and 20/32 Snellen equivalent in the left eye. The intraocular pressures and anterior segment examination were unrevealing in OU. Posterior segment examination revealed multiple yellowish flecks and dots in the posterior pole in OU. Optical coherence tomography (OCT) showed subretinal fluid (SRF), intraretinal hyporeflective spaces, elongated and shaggy photoreceptors and outer retinal defects. Fundus autofluorescence demonstrated mottling hyperautofluorescence and hypoautofluorescence in the posterior pole in OU. Fluorescein angiography illustrated hyperfluorescence in the posterior pole and surrounding the arcades in OU. Multifocal electroretinography objectified mild to markedly abnormal responses in all ring areas in OU. Molecular genetic testing confirmed two heterozygous sequence variations in the BEST1 gene. At 4 years of follow-up, OCT revealed a complete resolution of SRF and a partial resolution of intraretinal hyporeflective spaces in the OD with corresponding improvement in the BCVA to 20/23 Snellen equivalent in the OD, even though outer retinal defects persisted. Our patient denied recent changes in his alimentary habits and medical history at that time. Posteriorly, SRF and intraretinal hyporeflective spaces reappeared in the OD. Conclusion To the best of our knowledge, this is the first case report of ARB with a transient resolution of retinal edema in one eye without medical treatment and dietary therapy.

Eosinophilic esophagitis in children: Updates and practical aspects of management for allergists in a non‐tertiary care private practice setup

Background: Eosinophilic esophagitis (EoE) is a chronic immune and/or antigen-mediated disease characterized by eosinophilic infiltration of mucosa (≥15 eosinophils per high power field) without any secondary etiology. Non‐immunoglobulin E mediated mechanisms predominate in EoE. Objective: This review concentrated on a stepwise approach for the allergist working in non‐tertiary care private practice. Methods: A medical literature search that focused on several areas of the latest developments in the diagnosis and management of EoE was conducted. Results: There has been a steady increase in the prevalence and incidence of EoE. Clinical symptoms can vary from dysphagia to failure to thrive, depending on the age at presentation; some children develop adaptive behaviors to compensate for dysphagia, such as food preferences and slow eating. The diagnosis is based on a high index of clinical suspicion and is confirmed with endoscopy with biopsies after ruling out other causes of esophageal eosinophilia. Treatment options may include dietary therapy, pharmacologic therapies, or combination therapy. Therapeutic options may also include endoscopic dilation for stricturing disease. Conclusion: Providers should be aware of recent recommendation changes in the diagnostic workup, the role of skin-prick testing, and role of the proton-pump inhibitor as first-line therapy for EoE. Also, clinicians should be aware of the emerging role of empiric dietary therapy as a preferable therapeutic option when compared with the testing-directed diet and the elemental diet. Furthermore, topical glucocorticoid therapies are available, and new developing therapies are being investigated. Reevaluation of esophageal mucosa with biopsies is required approximately 2 months after therapy for a response and after a change in therapies to confirm continued resolution.

Practical aspects of therapy for glutaric aciduria type 1

Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in the amino acid metabolic pathways. The decreased activity of the enzyme leads to accumulation of neuro‑ toxic metabolites. The recommended treatment approaches for GA1 are the prescription of specialized nutrition products, levocarnitine, and symptomatic management. In 2021, clinical guidelines for the treatment of this rear disease were published in Russian Federation. To provide for the timely treatment, it is essential for a practitioner involved in the care patients with such a rare disorder as GA1 to have the knowledge of the principles of management, as well as practical algorithms for diet calculation.The article gives a detailed case‑based description of management during metabolic decompensation and the choice of dietary therapy for GA1 patients of different age groups.

Major metabolic and metabolomic approaches of dietary therapy in the control of inflammatory obesity processes in COVID-19: a concise systematic review

Introduction: Obesity stands out as a multifactorial disease that can cause several public health problems. Currently, more than 30% of the world's population is overweight or obese. By 2020, it is estimated that over 60% of the world population will be overweight or obese. It has been postulated that a healthy nutritional status promotes immune function and can prevent the onset of a severe inflammatory process and severe infections, especially in times of pandemics such as COVID-19. The optimal immune response depends on proper diet and nutrition to keep the infection under control. Objective: This study analyzed the main interactions of dietary therapy in the control of obesity and its comorbidities, especially meta-inflammation. Methods: This study followed a systematic review model. The search strategy was performed in the PubMed, Cochrane Library, Web of Science and Scopus, and Google Scholar databases, using scientific articles from 2009 to 2021. The low quality of evidence was attributed to case reports, editorials, and brief communications, according to the GRADE instrument. The risk of bias was analyzed according to the Cochrane instrument. Results and Conclusion: 105 studies were analyzed and submitted to eligibility analysis, and then 42 high to medium quality studies were selected. Biases did not compromise the scientific basis of the studies. Research has shown that unbalanced dietary patterns, such as the Western diet, rich in simple sugars, refined carbohydrates, saturated and trans-fatty acids, lead to chronic inflammatory responses, increased fat deposition, and future comorbidities associated with overweight and obesity. In addition, some nutrients have important effects in decreasing the inflammatory response and in metabolic restoration, reducing oxidative stress. Therefore, adequate dietary interventions for the management of overweight and obesity are needed, especially starting early in children and adolescents for healthy growth, preventing comorbidities in adulthood.

Two microbiota subtypes identified in irritable bowel syndrome with distinct responses to the low FODMAP diet

ObjectiveReducing FODMAPs (fermentable oligosaccharides, disaccharides, monosaccharides and polyols) can be clinically beneficial in IBS but the mechanism is incompletely understood. We aimed to detect microbial signatures that might predict response to the low FODMAP diet and assess whether microbiota compositional and functional shifts could provide insights into its mode of action.DesignWe used metagenomics to determine high-resolution taxonomic and functional profiles of the stool microbiota from IBS cases and household controls (n=56 pairs) on their usual diet. Clinical response and microbiota changes were studied in 41 pairs after 4 weeks on a low FODMAP diet.ResultsUnsupervised analysis of baseline IBS cases pre-diet identified two distinct microbiota profiles, which we refer to as IBSP (pathogenic-like) and IBSH (health-like) subtypes. IBSP microbiomes were enriched in Firmicutes and genes for amino acid and carbohydrate metabolism, but depleted in Bacteroidetes species. IBSH microbiomes were similar to controls. On the low FODMAP diet, IBSH and control microbiota were unaffected, but the IBSP signature shifted towards a health-associated microbiome with an increase in Bacteroidetes (p=0.009), a decrease in Firmicutes species (p=0.004) and normalisation of primary metabolic genes. The clinical response to the low FODMAP diet was greater in IBSP subjects compared with IBSH (p=0.02).Conclusion50% of IBS cases manifested a ‘pathogenic’ gut microbial signature. This shifted towards the healthy profile on the low FODMAP diet; and IBSP cases showed an enhanced clinical responsiveness to the dietary therapy. The effectiveness of FODMAP reduction in IBSP may result from the alterations in gut microbiota and metabolites produced. Microbiota signatures could be useful as biomarkers to guide IBS treatment; and investigating IBSP species and metabolic pathways might yield insights regarding IBS pathogenic mechanisms.

Intestinal Cellular Biomarkers of Mucosal Lesion Progression in Pediatric Celiac Disease

Celiac disease (CD) is a chronic intestinal inflammation caused by gluten ingestion in genetically predisposed individuals. Overt-CD and potential-CD are the two main forms of gluten intolerance in pediatric patients with different grades of intestinal mucosa lesion and clinical management. For overt-CD patients the gluten-free diet is mandatory, while for potential-CD the dietary therapy is recommended only for those subjects becoming clinically symptomatic overtime. To date, specific early biomarkers of evolution to villous atrophy in potential-CD are lacking. We recently observed an expansion of TCRγδ+ T cells and a concomitant disappearance of IL4-producing T cells in the intestinal mucosa of overt-CD patients compared to potential-CD children, suggesting the involvement of these two cells subsets in the transition from potential-CD to overt-CD. In this study, we demonstrated that the intestinal densities of IL4+ T cells inversely correlated with TCRγδ+ T cell expansion (p < 0.005) and with the serum levels of anti-tissue transglutaminase antibodies (p < 0.01). The changes of these two cell subsets strongly correlated with mucosal lesions, according to the histological Marsh classification, as the transition from M0 to M3 lesions was associated with a significant reduction of IL4+ T cells (M0 vs. M1 p < 0.04, M0 vs. M3 p < 0.007) and an increase of TCRγδ+ T cells (M0 vs. M1 p < 0.05, M0 vs. M3 p < 0.0006). These findings strongly suggest that the detection of TCRγδ+ and IL4+ T cells could serve as cellular biomarkers of mucosal lesion and targets of novel immunomodulatory therapies for CD.

Dietary Therapy for Celiac Disease: Suggestions for the Practical Application of the Diet Offered by Gastronomy

Celiac disease is an inherited disease. In this case, the protein found in the wheat, barley, rye, and oats (α-gliadin - the alcohol-soluble component of gluten) damages the small intestinal mucosa of the body. As a result of the damage, absorption is impaired. The only way to treat it is through diet, so it is imperative to completely avoid the gluten-containing products. These must be replaced by gluten-free products. The primary purpose of the manuscript is to formulate dietary recommendations for patients with celiac disease. In addition, dishes are prepared and presented that can be an active part of the diet (fried chicken with potato garnish; fruit smoothie with coconut drink; chicken with mixed vegetable salad; fried eggs with fried vegetables and extruded gluten-free cornbread). These foods can be used effectively as part of a gluten-free diet. We hope to provide useful information for the scientific community. In addition, we can contribute to the protection of their health.

Main aspects of treating, restoring and supporting the health of children with phenylketonuria

Полноценное, сбалансированное питание - основной фактор в формировании здоровья детей, когда в организме наиболее интенсивно протекают процессы роста и развития, формируются и созревают многие органы и системы, совершенствуются их функции. В статье приведены основные направления исследований зарубежных и отечественных ученых по лечению генетических заболеваний, таких как фенилкетонурия. Одним из приоритетных направлений в области здорового питания населения России в соответствии со Стратегией научно-технологического развития РФ до 2030 г. является развитие производства пищевых продуктов, обогащенных незаменимыми ингредиентами, специализированных продуктов детского питания, продуктов функционального назначения, диетических пищевых продуктов и биологически активных добавок. По данным ВОЗ от структуры питания на 70 % зависят здоровье и физическое развитие детей и подростков. Фенилкетонурия (ФКУ) - наследственное заболевание, вызывающее нарушение метаболизма аминокислоты фенилаланина у ребенка, одно из первых, рекомендованных ВОЗ для ранней диагностики у новорожденных. Отсутствие лечения вызывают серьезное поражение центральной нервной системы, отставание в умственном и физическом развитии. Особенностью современного этапа развития диетотерапии для детей, страдающих различными заболеваниями, в том числе наследственными, является разработка качественных функциональных продуктов питания, способствующих сохранению и улучшению здоровья ребенка за счет регулирующего и нормализующего воздействия на организм с учетом его физиологического состояния и возраста. Данные продукты можно широко использовать в практике лечебного питания не только в составе гипофенилаланиновой диеты, но и при любых заболеваниях, требующих ее соблюдения. В настоящее время единственным методом лечения ФКУ является диетотерапия, организованная с первых дней жизни с использованием специализированных смесей без фенилаланина. Из питания исключаются высокобелковые продукты растительного и животного происхождения. Целью лечебного воздействия диеты на ребенка является поддержка концентрации фенилаланина (ФА) в крови в пределах 2-12 мг на 100 мл в зависимости от возраста ребенка. Full-fledged balanced nutrition is the main factor in the formation of children's health, when the processes of growth and development are most intense in the body, many organs and systems are formed and mature, and their functions are improved. The article presents the main research areas of foreign and domestic scientists on the treatment of genetic diseases, such as phenylketonuria. One of the priority areas in the field of healthy nutrition of the Russian population in accordance with the Strategy for Scientific and Technological Development of the Russian Federation until 2030 is the development of the production of food products enriched with essential ingredients, specialized children's food products, functional products, dietary food products and biologically active additives. According to WHO, the health and physical development of children and adolescents depends on the nutritional structure by 70%. Phenylketonuria (PKN) - an inherited disease that causes impaired metabolism of the amino acid phenylalanine in a child - is one of the first recommended by WHO for early diagnosis in newborns. Lack of treatment causes serious damage to the central nervous system, a lag in mental and physical development. A feature of the modern stage of development of dietary therapy for children suffering from various diseases, including hereditary ones, is the development of quality functional food products that contribute to the preservation and improvement of the health of the child, due to the regulatory and normalizing effect on the body, taking into account its physiological state and age. These products can be widely used in the practice of therapeutic nutrition not only in the sastava of the hypophenylalanine diet, but also for any diseases requiring its observance. Currently, the only method of treating PKN is diet therapy, organized from the first days of life using specialized mixtures without phenylalanine. High-protein products of vegetable and animal origin are excluded from nutrition. The goal of the therapeutic effect of the diet on the child is to maintain the concentration of phenylalanine (FA) in the blood in the range of 2-12 mg per 100 ml, depending on the age of the child.

Effects of Different Concentrations of Ganpu Tea on Fecal Microbiota and Short Chain Fatty Acids in Mice

Ganpu tea is composed of tangerine peel and Pu-erh tea. Current research suggests that both products can interact with gut microbes and thus affect health. However, as a kind of compound health food, little information is available about the effect of Ganpu tea on intestinal microorganisms. In this study, the basic physiological parameters (body weight, white adipose tissue and serum fat), the regulation of intestinal microorganisms and content of short-chain fatty acids (SCFAs) in feces of healthy mice were studied. The Ganpu tea can reduce the weight gain of mice and the increase in white adipose tissue (p < 0.01). After the intake of Ganpu tea, the abundance of Bacteroidetes increased (p < 0.05), whereas that of Firmicutes decreased (p < 0.01), indicating the latent capacity of Ganpu tea in adjusting the gut microbiota. Moreover, Ganpu tea differentially affected the content of different types of SCFAs in feces. Ganpu tea at the lowest concentrations showed positive effects on the concentrations of SCFAs such as acetic acid and propionic acid, whereas the concentration of butyric acid was decreased. For branched short-chain fatty acids (BSCFAs) such as isobutyric acid, isovaleric acid, etc., Ganpu tea reduced their concentrations. Our results indicated that Ganpu tea may have positive effects on preventing obesity in humans, but further research is needed before introducing such dietary therapy.

Effect of Consuming Different Varieties of Bambara Groundnut (Vigna subterranea) Seeds on Glycaemia and Lipid Profile of Diabetic and Non-Diabetic Rats

Background: Bambara groundnut seed is reported to possess high fibre and good nutritional content, and is locally used as a daily dietary therapy by diabetic patients in northern Nigeria. The plant seeds are of different varieties and whether the antidiabetic effect may vary with the varieties is largely unknown. This has prompted the current study to investigate effect of consuming different varieties of Bambara groundnut seeds on glycaemia and lipid profile of diabetic and non-diabetic rats. Materials and Methods: Bambara groundnut seed’s varieties were processed into flour and use in formulating feeds which were given to diabetic and non-diabetic rats as follows; group A (ALK01 feed), group B (ALK02 feed), group C (ALK03 feed), group D (ALK04 feed), group E (Basal feed), and group F (Normal animal’s feed) for 28 days during which blood glucose and weights were measured weekly while lipid profile was assayed at the end of the study. Results: The result of the study showed continuous increase in glycemic levels for diabetic rats fed basal and normal feeds compared to those fed plant seed formulated feeds. While, glycemic levels for non-diabetic rats fed plant seed formulated feeds, normal or basal feeds remain within normal range. The lipid components of diabetic rats fed basal and normal feeds were elevated and are significantly different (P<.05) from those fed plant seed formulated feeds. Conclusion: The study concluded that consumption of different varieties of Bambara groundnut seed could ameliorate hyperglycemia and hyperlipidemia by a variety dependent manner. Keywords: Bambara groundnut, seed varieties, effect, glycaemia, lipid profile, rats