Deficiency Disease Research Articles

Electrochemical detection of sulfite in food samples

In various pharmaceutical and food industries, sulfite is utilized for the inhibition of nonenzymatic and enzymatic browning. Also, in brewing industries, it acts as an antioxidizing and antibacterial agent. Several toxic and adverse reactions, including vitamin deficiency, hypersensitivity, and allergic diseases, have been attributed to sulfite ingestion that may cause dysbiotic oral and gut microbiota events. Thus, the content of sulfite in foods must be controlled and monitored, and it is essential to find a specific, reproducible, and sensitive method to detect sulfite. Some analytical solutions are being tested to quantify sulfite. However, due to their advantage over traditional techniques, electroanalytical techniques are attracting much attention because they are simple, fast, affordable, and sensitive to implement. In addition, by the electrode modification, the morphology and size can be controlled, resulting in the miniaturization to be used in portable electrochemical devices. Therefore, the present review addressed some articles on the electrooxidation of sulfite from real samples using various electrochemical sensors.

Treatment options in hypoparathyroidism.

Hypoparathyroidism remains the single endocrine deficiency disease that is not habitually treated with the missing hormone. In this article, we aim to provide a review of the conventional approach and the novel therapies as well as an overview of the perspectives on the treatment of this rare condition. We conducted a literature review on the conventional therapy using vitamin D analogs and calcium salts, indications for thiazide diuretics and phosphorus binders, PTH analogs history and usage, and the drugs that are currently being tested in clinical trials. Conventional treatment involves calcium salts and vitamin D analogs. Thiazide diuretics can be used to reduce hypercalciuria in some cases. A low-phosphate diet is recommended, and phosphate binders are rarely needed. During pregnancy, a careful approach is necessary. The use of PTH analogs is a new approach despite the limitation of high cost. Studies have included modified PTH molecules, calcilytics, microencapsulation of human parathyroid cells, and allotransplantation.

Evaluation of Red Blood Cell Metabolism in Patients with Low-Risk Myelodysplastic Syndrome (LR-MDS): A Proof-of-Concept Study

Low risk myelodysplastic syndromes (MDS) show high clinical heterogeneity ranging from mild anemia with nearly normal performance status to life-threatening cytopenias, frequent hospitalization, and disability. Anemia occurs in 80%-85% of patients and therapeutic strategies are still very limited mainly consisting of of erythropoiesis stimulating agents and red blood cell (RBC) transfusion support. Starting from the working hypothesis that the defective maturation of hematopoietic precursors may dampen the "functionality" of MDS-RBCs, we aimed at evaluating RBC metabolic pathway in anemic patients with LR-MDS. We focused on the glycolytic pathway, which is the prominent metabolic cascade in RBCs and is currently targeted with allosteric stimulators of pyruvate kinase (PK) enzyme in clinical trials of PK deficiency, thalassemia, and sickle cell diseases, which are also marked by ineffective erythropoiesis like MDS. Sixty-six consecutive anemic patients (i.e. Hb<11 g/dL) diagnosed with MDS according to WHO 2016 classification that met IPSS-R criteria for very low, low, or intermediate-risk MDS were enrolled in the study. All patients were sampled for peripheral blood at least 4 weeks after the last RBC unit to reduce possible blood donor contamination. The determination of activities of the glycolytic RBC enzymes pyruvate kinase (PK) and hexokinase (HK) (the terminal and initial steps of the glycolytic pathway), and of ATP levels was performed by standard spectrophotometric method according to Beutler et al, 1984. 2,3 DPG determination was tested by AssayGenie Kit in a subgroup of patients. Ektacytometric analysis by LoRRca MaxSis (Laser-Assisted Optical Rotational Cell Analyzer, Mechatronics, NL) was also performed in a subgroup of patients. As shown in table 1, patients were mainly elderly males, and mostly belonged to IPSS low (78%) and IPSS-R very low/low groups (85%). Median levels of PK activity were 13.7 IU/gHb, with a wide range (7.5-35.9) and were reduced in 23 cases (35%; normal reference range 11.9-16.7 IU/gHb); median values of HK activity were 2.3 (0.8-8.1), increased in 60 patients (91%; normal reference range 0.78-1.32 IU/gHb). This resulted in an abnormally reduced PK/HK ratio (median 5.45, range 2-15) in 63 subjects (95%; (normal reference range calculated on 167 normal subjects: 11.55 - 17.65). To asses if impaired glycolysis may result in altered RBC deformability or in lack of energy, ATP levels, 2,3 DPG, and ektacytometric curve were evaluated. Median ATP levels were 3.4 mcM/gHb (1.3-6.5), reduced in 33/56 tested patients (59%; normal reference range 3.6-4.9 mcM/gHb), of whom 32 had simultaneous reduction of PK/HK activity ratio (figure 1), and 11 decreased PK activity. Concerning 2,3 DPG levels preliminarily analysed in a subgroup of patients, they were close to the upper limit of the normal range (median, 389 nM/gHb, 318-639). Osmoscan, performed in 10 patients did not show altered RBC deformability. Preliminary data show decreased glycolytic activity in RBCs from patients with LR-MDS highlighted by reduced PK activity in more than 1/3 of cases, and increased HK activity in almost all subjects. This results in reduced RBC ATP content in up to 2/3 of patients (possibly due to reduced production or to increased consumption) indicating an overall lack of energy in MDS-RBCs. The latter may be an interesting target for allosteric PK stimulators and warrants further investigations. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

PSAT118 Elevated Serum IgA at Onset of Type 1 Diabetes in Children

Abstract IgA is the most produced antibody in the body. There are two major forms of IgA, monomeric serum IgA and dimeric mucosal (secretory) IgA. During infection or inflammation, IgA binding to its antigen induces crosslinking of FcaRI, which activates immune effector cells to carry out their functions and can thus induce pro-inflammatory responses, which is hypothesized to occur when IgA titers are high. (1,2) Elevated serum IgA has been associated with autoimmune diseases (3) including type 1 diabetes (T1D) but its role in disease pathogenesis is not well known. To address this gap in knowledge, we aimed to test the hypothesis that at diagnosis of T1D, children and adolescents with elevated serum IgA have different demographic, clinical and laboratory characteristics than those with normal serum IgA. We analyzed 612 children 9.7 [4.2] (mean [SD]) years old (59% Non-Hispanic White, 20% Hispanic, 16% Black, 5% Other) with new onset T1D diagnosed between 1/2008-2/2012 at a large, academic pediatric hospital. Serum IgA values above age-adjusted normal ranges were defined as elevated serum IgA. Patients with low IgA were excluded because of known association between IgA deficiency and autoimmune disease. Demographic and clinical variables were compared between youth with and without elevated serum IgA. Univariable and multivariable regression models were used to compare baseline characteristics that were associated with elevated serum IgA. A significance level of 0.05 was used. We found that elevated serum IgA was present in 21% (128/612) of the children at T1D onset. By multivariate analysis, compared to children with normal IgA, those with elevated IgA were more likely to be of Hispanic ethnicity (Odds Ratio (OR)=3.27, 95% Confidence Interval (CI)=2.00, 5.35) and had a higher hemoglobin A1c (A1c) (OR=1.13, 95% CI=1.01, 1.26). They also had higher odds of having insulin autoantibody (IAA) positivity at diagnosis (OR=1.65, 95% CI=1.10, 2.45) and lower odds of GAD autoantibody (GADA) positivity (OR= 0.57, 95% CI=0.36, 0.93) (all, p&amp;lt;0.05), while there were no significant associations with age, glucose level or presence of DKA. In sum, at diagnosis of T1D, 21% of youth have elevated serum IgA and this was associated with Hispanic ethnicity, higher A1C and positivity for IAA. Our findings suggest that elevated serum IgA may help identify youth with T1D, islet autoimmunity and insulin deficiency. Further studies are warranted to investigate potential pathogenic correlates and persistence over time. This knowledge may lead to new targeted strategies to preserve or improve beta-cell function in individuals with clinical or pre-clinical T1D. References (1) Hansen IS et al. Cell Mol Life Sci. 2019 Mar;76(6): 1041-1055. PMID: 30498997 (2) Leong KW et al. DNA Cell Biol. 2014 Dec;33(12): 823-9. PMID: 25188736 (3) Kerr MA. Biochem J. 1990 Oct 15;271(2): 285-96. PMID: 2241915 Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

Feasibility of a 109Cd-based portable XRF device for measuring skin iron concentration in anaemic and β−Thalassaemic patients

Iron is an essential element vital for growth and development. The severe effects on the body due to iron deficiency or overload have prompted sustained research into accurate in vivo iron measurement techniques for the past several decades. X-ray fluorescence (XRF) analysis of iron in the body has been investigated in this work because of the non-invasive nature of the technique. A system has been designed using a silicon drift detector to measure the low-energy iron K α x-rays excited in the samples by the silver x-rays from 109Cd of energy 22 keV and 25 keV. The source is contained within a tantalum shielding cap designed to reduce the spectral background. The system was calibrated against 3D printed polylactic acid (PLA) phantoms filled with solutions of iron at various concentrations. The iron x-ray signals were normalized to a nickel x-ray signal which improved the system’s reproducibility. The 3D phantoms and normalisation resulted in a linear calibration line (p < 0.001 and r2 > 0.999). For a real-time measurement of 1800 s, the minimum detectable limit for the system was measured to be 1.35 ± 0.35 ppm which is achieved with a low radiation dose of 1.1 mSv to the skin surface. This low detection limit and low dose mean the system is feasible for application to human measurements in both iron deficiency and overload disease. The system will proceed to post-mortem validation studies prior to in vivo system efficacy testing.

Deciphering the role of DOCK8 in tumorigenesis by regulating immunity and the application of nanotechnology in DOCK8 deficiency therapy.

The dedicator of cytokinesis 8 (DOCK8) immunodeficiency syndrome is a severe immune disorder and characterized by serum IgE levels elevation, fungal and viral infections, dermatitis and food allergies. It was well known that DOCK8 is crucial for the survival and function of multiple immune related cells. However, the critical role of DOCK8 on tumorigenesis through regulating immunity is poorly investigated. Accumulating evidences indicated that DOCK8 could affect tumorigenesis by regulating the immunity through immune cells, including NK cells, T cells, B cells and dendritic cells. Here, we summarized and discussed the critical role of DOCK8 in cytoskeleton reconstruction, CD4+ T cell differentiation, immune synaptic formation, tumor immune infiltration, tumor immune surveillance and tumorigenesis. Furthermore, the potential roles of nanotechnology in improving the hematopoietic stem cell transplantation-based therapy for DOCK8 deficiency diseases are also highlighted and discussed.

Physico‐nutritional characterization of composite cassava and orange‐fleshed sweet potato flours and sensory evaluation of “fufu” prepared from the flour blends

AbstractThe orange‐fleshed sweet potato (OFSP) is being promoted for consumption as a public health tool to combat vitamin A deficiency diseases in Africa. As a staple diet in many households in West Africa, “fufu” aptly lends itself to fortification with OFSP for the delivery of essential micronutrients for health improvement. In this study, the nutritional and functional characteristics of composite cassava/OFSP flours for preparation into "fufu" were examined, and the cooked food was subjected to sensory evaluation. OFSP enriched the nutritional composition as its substitution levels for cassava increased. However, the texture and pasting properties degraded concomitantly during the heating process. Sensory panelists preferred "fufu" prepared from the composite flours with up to 5% replacement of cassava with OFSP. This can potentially contribute 39–77% of the Recommended Dietary Allowance of vitamin A for children and 33% for women of reproductive age and help alleviate related deficiency diseases.Practical applicationsReducing hunger and promoting health is the foremost objective of the Sustainable Development Goals 2 and 3. This requires prioritizing specific food micronutrients and establishing approaches to deliver them to the consuming public. "Fufu" is a staple diet regularly consumed in many households in West Africa. However, its nutritional content is low due to the low content of micronutrients in the traditional ingredients. A new processing recipe for "fufu", which uses the composite flours of the ingredients, aptly lends it to fortification with nutrient‐rich ingredients to administer the essential dietary requirements of its consumers. Given the substantial composition of important food micronutrients, particularly β‐Carotene, in the orange‐fleshed sweet potato (OFSP), it is the most considered candidate crop for meeting the critical dietary needs of people plagued with vitamin A deficiency diseases. The importance of this study, therefore, lies in the development of a new "fufu" product fortified with OFSP to avert the vitamin A deficiency diseases that mostly affect women of reproductive age and children in Africa.

Iron deficiency and cardiovascular disease.

Iron deficiency (ID) is common in patients with cardiovascular disease. Up to 60% of patients with coronary artery disease, and an even higher proportion of those with heart failure (HF) or pulmonary hypertension have ID; the evidence for cerebrovascular disease, aortic stenosis and atrial fibrillation is less robust. The prevalence of ID increases with the severity of cardiac and renal dysfunction and is probably more common amongst women. Insufficient dietary iron, reduced iron absorption due to increases in hepcidin secondary to the low-grade inflammation associated with atherosclerosis and congestion or reduced gastric acidity, and increased blood loss due to anti-thrombotic therapy or gastro-intestinal or renal disease may all cause ID. For older people in the general population and patients with HF with reduced ejection fraction (HFrEF), both anaemia and ID are associated with a poor prognosis; each may confer independent risk. There is growing evidence that ID is an important therapeutic target for patients with HFrEF, even if they do not have anaemia. Whether this is also true for other HF phenotypes or patients with cardiovascular disease in general is currently unknown. Randomized trials showed that intravenous ferric carboxymaltose improved symptoms, health-related quality of life and exercise capacity and reduced hospitalizations for worsening HF in patients with HFrEF and mildly reduced ejection fraction (<50%). Since ID is easy to treat and is effective for patients with HFrEF, such patients should be investigated for possible ID. This recommendation may extend to other populations in the light of evidence from future trials.

Vitamin D in Prevention of Autoimmune Diseases.

Vitamin D is essential for the regulation of the immune system. In recent years, the role of vitamin D in the control of several autoimmune conditions such as inflammatory bowel disease (IBD), celiac disease, type 1 diabetes mellitus (T1DM), and others has been investigated. The aim of this review was to define the level of knowledge on vitamin D's role in these disorders, as well as the preventive and therapeutic role of vitamin D supplementation. Relevant studies published over the last 20 years were identified via a PubMed/Medline (http://www.ncbi.nlm.nih.gov/pubmed/) search using the keywords: vitamin D, autoimmune disease, and prevention. Vitamin D deficiency or impaired function of the enzymes necessary for its activity has been shown to affect the onset and severity of the autoimmune diseases examined. Vitamin D supplementation appears useful in the support therapy of IBD. Its role in celiac disease, autoimmune hepatitis, T1DM, and autoimmune thyroiditis is unclear. In conclusion, further studies are needed to define whether vitamin D is a cause or a result of the most common autoimmune, extra-skeletal diseases, such as IBD. Vitamin D should be provided to all newborns during their first year of life. Afterwards, the vitamin D supplementation regimen should be tailored to the presence of risk factors for vitamin D deficiency and/or specific disease.

Anemia prevalence among ethnic minority schoolchildren in an undeveloped city in southwest China

ObjectivesAnemia is one of the most important nutritional deficiency diseases among schoolchildren worldwide. More attention needs to be focused on anemia prevalence in ethnic minorities in the multiethnic country of China. This study was conducted in Mengzi City, Yunnan Province, which has the largest variety of ethnic minorities in China, to investigate the anemia prevalence among ethnic minority schoolchildren ages 6 to 15 y. MethodsThe plasma hemoglobin concentration of all participants was examined once a year from 2014 to 2020. Anemia was defined as a blood hemoglobin level below 11g/dL, 12g/dL, 13g/dL and 12g/dL for schoolchildren ages 5 to 11y, 12 to 14 y, ages 15 to 19 y males and females, respectively. ResultsThe overall anemia prevalence (7.3%) was higher than the national level (6.1%). The prevalence among ethnic minorities (8.2%) was higher than among Han Chinese (6.8%), and the prevalence was higher among 6-year-olds (12.2%), females (8.0%), those of Hani Nationality (8.7%), and underweight students (8.5%). The overall prevalence trend of ethnic minorities rose continuously from 2014 to 2020. Ethnic minorities had a higher risk of anemia than did Han Chinese. Overweight schoolchildren (odds ratio [OR], 0.816) and those with obesity (OR, 0.710) had a lower risk of anemia than did students with normal-weight status. ConclusionsAlthough the prevalence of anemia among schoolchildren in Mengzi is a mild public health problem, the rate among ethnic minorities is consistently higher than among Han Chinese and keeps rising. Measures to prevent and control anemia need to be prioritized in ethnic minorities, particularly those of Hani Nationality, females, and underweight schoolchildren.

Epiglottic Calcification: The Unexplored Relationship with Increasing Rates of Renal Disease

No abstract available. Manuscript truncated after 150 words. To the Editor: In the September 2022 issue the Southwest Journal of Pulmonary Critical Care and Sleep published an interesting article authored by Punatar et al. detailing a case of severe dysphagia that was secondary to isolated epiglottic calcifications seen on computed tomography and flexible fiberoptic laryngoscopy (1). The epiglottis plays a critical role in the prevention of aspiration and coordination of swallowing. Calcifications can severely alter its flexibility and limit oral intake. Isolated calcifications of the epiglottis and sequential dysphagia is not a common entity. With the increasing rates of chronic and end-stage renal disease, this letter is focused on increasing the awareness of extra-osseous manifestations of secondary hyperparathyroidism. Secondary hyperparathyroidism is characterized by adaptive parathyroid gland hyperplasia to increase the production of parathyroid hormone. Etiologies include vitamin D deficiency and chronic kidney disease. Vitamin D deficiency can be seen in about 50% of the world population and chronic …

Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis

Haploinsufficiency of GRN causes frontotemporal dementia (FTD). The GRN locus produces progranulin (PGRN), which is cleaved to lysosomal granulin polypeptides. The function of lysosomal granulins and why their absence causes neurodegeneration are unclear. Here we discover that PGRN-deficient human cells and murine brains, as well as human frontal lobes from GRN-mutation FTD patients have increased levels of gangliosides, glycosphingolipids that contain sialic acid. In these cells and tissues, levels of lysosomal enzymes that catabolize gangliosides were normal, but levels of bis(monoacylglycero)phosphates (BMP), lipids required for ganglioside catabolism, were reduced with PGRN deficiency. Our findings indicate that granulins are required to maintain BMP levels to support ganglioside catabolism, and that PGRN deficiency in lysosomes leads to gangliosidosis. Lysosomal ganglioside accumulation may contribute to neuroinflammation and neurodegeneration susceptibility observed in FTD due to PGRN deficiency and other neurodegenerative diseases.

Estimating prevalence and characteristics of statin intolerance among high and very high cardiovascular risk patients in Germany between 2017–2020

Abstract Background Statins remain the backbone of lipid management. Nevertheless, the degree to which statins can be used and dosed in clinical practice remains a great challenge, also due to statin intolerance (SI). The lack of widely accepted SI definition leads to poor understanding of the condition and SI patient profile Purpose To estimate the current SI prevalence and understand better the patient characteristics, using machine learning techniques Methods Retrospective cohort study, based on representative sample of electronic patient records from outpatient setting in Germany. Patients were included if they had high CV risk, atherosclerotic cardiovascular disease (ASCVD) or hypercholesterolemia (HC), between 2017 and 2020. Patients were categorized as having “absolute” (history of SI events and permanent statin discontinuation) or “partial” (history of SI events while treated with statins) SI. Machine learning techniques were utilized to calibrate the prevalence estimates and to identify patient clusters. Estimates of SI prevalence were derived based on different rules and confidence levels (high, moderate and low). The low confidence estimates contain the most uncertainty in identifying SI Results The study population consisted of 292,603 patients (57.3% aged &amp;gt;70 years; 55.6% male). Of these, ∼24% had high CV risk, ∼56% had ASCVD, and ∼20% had HC. After deploying machine learning, the SI identification improved by ∼27% in absolute SI and by ∼57% in partial SI patients, resulting in a maximum estimate of 12.5% SI with high/moderate confidence and further 11.8% with low confidence (absolute SI 15.8%, partial SI 8.5%). The low confidence group may contain patients with insufficient statin treatment due to reasons other than SI (e.g. clinical inertia). Statistically significant risk factors for SI were hypothyroidism, vitamin D deficiency, liver and chronic kidney disease. Cramps, muscle spasms, myalgia and myopathy were the most common statin associated muscle symptoms (SAMS) observed in the SI population. Atorvastatin 40mg was the most frequently down-titrated statin, while simvastatin to atorvastatin was the most predominant class switch in SI patients. Machine learning techniques applied on high confidence SI patients characteristics and the most commonly observed cluster for patients over 60 years showed predominant musculoskeletal disorders, concomitant high SAMS incidence and high use of multiple statins. In males under 60 years, depression and somatoform disorders along with musculoskeletal disorders, pain, and gastric events were common, while females under 60 years had predominant depressive episodes, along with musculoskeletal, mental, and metabolic disorders Conclusion Addressing the complexity in defining SI using advanced analytics, this study provides prevalence estimates and describes distinct patients clusters that may inform diagnosis and optimal treatment pathways for SI patients in Germany Funding Acknowledgement Type of funding sources: Private company. Main funding source(s): Daiichi Sankyo Europe GmbH

Downregulation of hepatic ceruloplasmin ameliorates NAFLD via SCO1-AMPK-LKB1 complex.

Copper deficiency has emerged to be associated with various lipid metabolism diseases, including non-alcoholic fatty liver disease (NAFLD). However, the mechanisms that dictate the association between copper deficiency and metabolic diseases remain obscure. Here, we reveal that copper restoration caused by hepatic ceruloplasmin (Cp) ablation enhances lipid catabolism by promoting the assembly of copper-load SCO1-LKB1-AMPK complex. Overnutrition-mediated Cp elevation results in hepatic copper loss, whereas Cp ablation restores copper content to the normal level without eliciting detectable hepatotoxicity and ameliorates NAFLD in mice. Mechanistically, SCO1 constitutively interacts with LKB1 even in the absence of copper, and copper-loaded SCO1 directly tethers LKB1 to AMPK, thereby activating AMPK and consequently promoting mitochondrial biogenesis and fatty acid oxidation. Therefore, this study reveals a mechanism by which copper, as a signaling molecule, improves hepatic lipid catabolism, and it indicates that targeting copper-SCO1-AMPK signaling pathway ameliorates NAFLD development by modulating AMPK activity.

Alpha1-antitrypsin deficiency and cardiovascular disease: questions and issues of a debated relation.

Alpha1-antitrypsin (AAT) is one of the major inhibitors involved in protease/antiprotease homeostasis, and it is mainly produced by hepatocytes and pulmonary epithelial cells. Its deficiency, called alpha1-antitrypsin deficit (AATD), leads to severe hepatic and respiratory issues. Also, AAT is released into the bloodstream providing systemic anti-inflammatory effects. Apart from acting as an acute-phase anti-inflammatory protein, it can be a biomarker for monitoring disease evolution. A reduced or defective production leads to a loss of anti-inflammatory function, protease-antiprotease imbalance and cellular engorgement due to polymers deposition, with system-wide repercussions. This review aims to evaluate AATD condition in the major vessels of the head and neck, thoracic and abdominal districts. Also, a dedicated focus on autoimmune vascular diseases will be provided. A critical revision of the main literature findings starting from the 1980s until now has been performed. Studies conducted over the years have provided several contradictory pieces of evidence. Most authors acknowledge the protective and anti-inflammatory AAT role on the vascular endothelium. However, correlations between AATD and major arteries, cerebral and cardiovascular conditions, and autoimmune diseases remain unclear. Most studies recognize the role of AATD in vascular diseases but only as a cofactor inducing cellular and tissue structure impairments. However, this condition alone is not enough to determine new disease onset. Due to the opposing results reported over the years, there is still a considerable lack of knowledge on the role covered by AATD in vascular diseases. A renewed interest in this research field should be encouraged to grant new solid evidence and validate the putative role of AATD screening and replacement therapy as useful diagnostic and treatment tools.

Perspectives on Genetic Medicine for Cystic Fibrosis.

Like any inherited protein deficiency disease, cystic fibrosis (CF) is a good candidate for gene replacement therapy. Despite the tremendous efforts of scientists worldwide invested in developing this approach, it did not lead to the expected results for various reasons discussed in this review. At the same time, the emergence of new methods of genome editing, as well as their latest modifications, makes it possible to bypass some of the problems of "classical" CF gene therapy. The review examines potential therapeutic agents for CF gene therapy, methods and routes of delivery, as well as discusses the problem of target cells for defect correction. Based on the results of these studies, editing genetic defects in the basal cells of the lungs and their counterparts in other organs will make it possible to create a drug for treating CF with a single administration.

Fasting Therapy of Chinese Medicine for Rheumatoid Arthritis and Multiple Comorbidities: A Case Report

Fasting therapy of Chinese Medicine was put forward by Professor Qin Jian based on the theory of fat and grease from The Yellow Emperors Internal Classi and modified on the basis of Buchinger fasting therapy. Here we try to report a female patient with the chief complaint of arthralgia who was diagnosed as rheumatoid arthritis, non-alcoholic fatty liver disease and suspected type 2 diabetes mellitus, also diagnosed by Chinese medicine with Bi disease of spleen deficiency and phlegm dampness syndrome. After admission, the patient was treated with fasting therapy of Chinese Medicine for a week. Considering that she was in the menstrual period, she was given a very-low-calorie diet during that time. Moreover, she was given L-carnitine injection, health education and traditional Chinese medicine treatment, including foot massage, acupuncture and acupoint application everyday. After discharge, she was asked to take low-calorie diet and modified Linggui Zhugan Decoction for another week. After that, she followed the doctor's instructions for long-term caloric control. A year later, the reexamination showed that her condition was improving.

FEATURES OF THE PREVENTION OF CARIES OF TEMPORARY TEETH IN CHILDREN IN THE MOUNTAIN REGIONS OF THE TRANSCARPATHIAN REGION

The aim of the study. Rationale for early prevention of caries of temporary teeth in children who have been living in the mountainous regions of Zakarpattia region for a long time.&#x0D; High indicators of the expansion and intensity of the caries process among children are associated with polyetiological caries, among which the leading place is occupied by the endemicity of the territory of residence, which in its course affects the changes in the morphological characteristics of the population and the metric parameters of the dentin and pulp of the temporary teeth of children who live permanently in the mountainous zone of the Transcarpathian region, which was confirmed by the conducted research.&#x0D; The mineral composition of the human body is a constant, especially in childhood, which directly depends on the intake of microand macroelements with food and drinking water. At the same time, the role of microand macroelements plays an important role for the full functioning of all organs and systems.&#x0D; The stability of the body's chemical composition is one of the most important and mandatory conditions for its normal functioning. Deviations of indicators of chemical elements from the norm, caused by environmental, professional, climate-geographical factors or diseases, lead to a wide range of violations of the health of the body. For example, out of 92 chemical elements found in nature, 81 are found in the human body.&#x0D; It is important to remember that today iodine deficiency diseases are an important medical and social problem, which is connected with biogeochemical indicators peculiar to the territory of Ukraine. And with diseases of the thyroid gland, all types of metabolism are disturbed, as a result of which metabolic changes are observed in the tissues of the teeth.&#x0D; It is generally accepted that the insufficient intake of fluorine and iodine in the human body leads to an imbalance in the processes of deand remineralization of enamel, and accordingly, reduces the level of caries resistance of tooth enamel, which leads to the destruction of the crystal lattice of enamel and the appearance of defects in the hard tissues of teeth.&#x0D; Based on this, such elements as fluorine and iodine play an important role in the formation of dental status, since iodine is involved in the synthesis of a number of hormones, which, in turn, determine the quality of the metabolism of a number of vitamins, affects the speed of biochemical reactions. And fluorine is the most important active substance in the prevention of caries and remineralization of enamel, the mechanism of action of which is that when it interacts with the mineral components of bone tissue and teeth, difficult-to-dissolve compounds are formed.&#x0D; It is worth remembering that fluorine also contributes to the precipitation of calcium phosphate from saliva, which determines the processes of remineralization during the initial carious process. The fact that it affects the enzymatic systems of dental plaque and saliva bacteria also plays a role in the mechanism of the anti-caries effect of fluoride.&#x0D; Caries prevention in such regions is, first of all, based on ensuring individual oral hygiene, rational nutrition with daily requirements of the necessary microand macroelements to maintain the mineralization of teeth, as well as implementation of remineralization therapy and deep fluoridation in order to enrich hydroxyapatites with fluorine and calcium molecules to suppress the progression of demineralization processes in the hard tissues of the teeth.

Structural characterization and biological activities of polysaccharide iron complex synthesized by plant polysaccharides: A review.

Iron deficiency anemia can lead to a variety of functional disorders, which is one of the highest incidence of nutrient deficiency diseases. The direct addition of iron to food will not only brings difficulties to the production of products, but also brings damages to human body. In recent years, international studies have shown that polysaccharide iron complex (PIC) not only has a variety of pharmacological activities of polysaccharide itself, but also has the function of supplementing iron, so it is a good iron supplement. With the advantages of good solubility, high iron content, low gastrointestinal irritation and high bioavailability, PIC is an effective iron supplement for iron deficiency anemia and has attracted more and more attention. In this paper, the different preparation methods, structural characterization, biological activities and clinical applications of PIC synthesized by natural polysaccharides from plant were reviewed, in order to provide theoretical basis for the development and application of PIC.

Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies

BackgroundAutoantibodies against type I interferons (IFN) alpha (α) and omega (ω), and interleukins (IL) 17 and 22 are a hallmark of autoimmune polyendocrine syndrome type 1 (APS-1), caused by mutations in the autoimmune regulator (AIRE) gene. Such antibodies are also seen in a number of monogenic immunodeficiencies. ObjectivesTo determine whether screening for cytokine autoantibodies (anti–IFN–ω and anti-IL22) can be used to identify patients with monogenic immune disorders. MethodsA novel ELISA assay was employed to measure IL22 autoantibodies in 675 patients with autoimmune primary adrenal insufficiency (PAI) and a radio immune assay (RIA) was used to measure autoantibodies against IFN-ω in 1778 patients with a variety of endocrine diseases, mostly of autoimmune aetiology. Positive cases were sequenced for all coding exons of the AIRE gene. If no AIRE mutations were found, we applied next generation sequencing (NGS) to search for mutations in immune related genes. ResultsWe identified 29 patients with autoantibodies against IFN-ω and/or IL22. Of these, four new APS-1 cases with disease-causing variants in AIRE were found. In addition, we identified two patients with pathogenic heterozygous variants in CTLA4 and NFKB2, respectively. Nine rare variants in other immune genes were identified in six patients, although further studies are needed to determine their disease-causing potential. ConclusionScreening of cytokine autoantibodies can efficiently identify patients with previously unknown monogenic and possible oligogenic causes of autoimmune and immune deficiency diseases. This information is crucial for providing personalised treatment and follow-up of patients and their relatives.