Organic Disorders Research Articles

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.

The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China. We aimed to estimate the incidence and genetic variants of IEM and understand the spectrum of diseases caused by IEM and variants among them in this area. The NBS performed by tandem mass spectrometry (MS/MS) from 2016 to 2021 was retrospectively reviewed. Heel blood was collected from all newborns 72 h after birth. Targeted massively parallel sequencing was performed for genetic analysis. Among 245,194 newborns, 95 were diagnosed with IEM, the overall incidence observed was-IEM: 1/2581; amino acid metabolism disorder: 1/4715; organic acid metabolism disorder: 1/11676; and fatty acid metabolism disorder: 1/11145. The incidence of different IEM was in the range of 1/245194 to 1/6452. Phenylketonuria (PKU, 1/7211) was the most common IEM, followed by methylmalonic acidemia (MMA, 1/27244), short-chain acyl-CoA dehydrogenase deficiency (SCADD, 1/30649), and citrin deficiency (CD, 1/35028). For genetic variants, the common hotspot variants found were-PAH gene for PKU: c.728G > A, c.442-1G > A, c.611A > G, c.721C > T; PTS gene for non-classical PKU: c.259C > T; MMACHC gene for MMA: c.658_660delAAG, c.609G > A; MMUT gene for MMA: c.1663G > A; ACADS gene for SCADD: c.1031A > G and c.1130C > T; and SLC25A13 gene for CD: c.1638_1660dup, c.852_855del. This study displayed the diseases and varied spectrum of IEM in eastern coastal areas of China. Implementing NBS for IEM by MS/MS combined with massively parallel sequencing can offer an improved plan for NBS to detect IEM.

Frequency of Depression in Patients Suffering from Non-Epileptic Fits

Introduction: The most prevalent and severe type of mental disease, depression affects 60–70% of adults, primarily between the ages of 15 and 35. Not only are the patients affected by this terrible disorder, but also their care givers and families. It has long been known that depression often manifests as a variety of psychosomatic conditions, one of which is non-epileptic fits, which are typically more common in children and women than men. Therefore, the majority of patients who present to a psychiatric emergency room, outpatient department, or ward having non-epileptic fits have underlying depression. This was one of the few studies conducted on the prevalence of depression in patients experiencing non-epileptic fits in Pakistan, particularly in province, Khyber Pakhtunkhwa. Study Design and Study Area: In the psychiatry department of Khyber Teaching Hospital Peshawar, this descriptive cross-sectional study was conducted. Duration of Study: The duration of study was 06 months i.e. from 30th march, 2015 to 30th September, 2015. Materials and Methods: The study included 162 patients who presented to the hospital with non-epileptic fits and had ages ranging from 20 to 40 years. The study excluded non-consenting individuals, those with organic brain disorders, and those who had another psychiatric diagnosis already. On a proforma that was especially created, variables were recorded. The BDI depression scale was used to evaluate the depression screening process. Results: Of 193 patients, 162 met the requirements for study. The patients were estimated to have a mean age of 25.44 years, with a standard deviation of 14.25 years. Only 32 patients (20%) were female, while remaining 130 (80%) patient were male. Majority 88 (56%) individuals were uneducated. 46 people (32%) had education up to the primary level, 14 (8%) were matriculating, and 12 (4%) were graduates. 40 people (25%) were single, 94 people (58%) were wed, and 28 people (17%) were widows or widowers. 30 people (19%) were working and 132 (81%) were unemployed. 62 persons had been seeking care for more than 24 months, compared to 8 who had been doing so for less than 24 months, 20 persons for less than 18 months, 14 patients having duration of illness for less than 12 months and 12 patients of less than 6 months period of illness. Only when non-epileptic fits were linked to the depression (p value 0.004) was statistical significance observed. When depression was compared to the patient's gender, marital status, educational attainment, length of care, and occupation, there was no statistically significant difference. Conclusions: The majority of people who have non-epileptic fits also have depression. Age of onset of non-epileptic fits and depression are significantly correlated, whereas gender, educational level, marital status, occupation, length of illness, and patient's family history are not. Keyword: Psychological distress, depression, non-epileptic fits, KTH.

Free amino acid and acylcarnitine values in Ursus americanus Pallas 1780 (black bear) from Northeastern Mexico.

Ursus americanus Pallas 1780 is the largest carnivore and the only ursid in Mexico. It is considered an endangered species in the country because its distribution and population have been reduced by up to 80% because of habitat loss or furtive hunting. These problems can lead to a diet change, which could result in metabolic disorders, such as fatty acid β-oxidation defects or organic acid metabolism disorders. In our study, a free amino acid and acylcarnitine profile was characterized. Peripheral blood samples were drawn from nine free-ranging black bears in a period of five months, from June to October of 2019 in Northeastern Mexico, and 12 amino acids and 30 acylcarnitines were determined and quantified. Age differences were observed in the samples through ANOVA and post-hoc Tukey test. Only three metabolites showed a significant difference with age: alanine (Ala) [cubs vs juvenile], free-carnitine (C0) [juvenile vs cubs] and acetylcarnitine (C2) [cubs vs adults and juvenile vs cubs]. Metabolites with variability due to age were identified, making them potential biomarkers to monitor metabolic status as early diagnosis in endangered species. This is the first study of black bear amino acid and acylcarnitine profiles, and the values found could be used as reference for free amino acid and acylcarnitine concentrations in further studies of the species.

Comparison of severe hyponatremia in patients with and without psychiatric diseases: A single-center retrospective study.

Hyponatremia is a common electrolyte disorder. The severe hyponatremia has a mortality rate of 4%-40%. Psychiatric patients are likely to develop the condition because of polydipsia or the adverse effects of antipsychotics. We investigated the characteristics of patients with and without psychiatric diseases who developed severe hyponatremia. We retrospectively investigated cases admitted to our hospital (all departments) between October 2012 and November 2015 with a serum sodium concentration of ≤125 mmol/l on admission. We compared patient characteristics, etiology, and clinical course between psychiatric and nonpsychiatric patients. In total, 123 cases (62 female) were analyzed. Psychiatric disorders were present in 69 cases (56%), including schizophrenia (n = 19), anorexia (n = 16), mood disorders (n = 14), and organic mental disorders (n = 9). The mean patient age was 63 years. The mean serum sodium concentration on admission was 119 mmol/l, and the main causes of hyponatremia were polydipsia (20%), insufficient sodium intake (18%), and syndrome of inappropriate antidiuretic hormone secretion (16%). Compared with the nonpsychiatric group, the psychiatric group was significantly younger (55 vs. 74 years), was more likely to have polydipsia (30% vs. 6%), and had a lower in-hospital mortality (0% vs. 17%). Our study found differences in the clinical picture between psychiatric and nonpsychiatric patients with severe hyponatremia. Clinicians need to monitor serum sodium because the symptoms of hyponatremia can mimic those of psychiatric diseases.

Myths and misconceptions about childhood constipation.

Many widely held beliefs and assumptions concerning childhood constipation continue to interfere with rational management of childhood constipation. Although many still believe that constipation is not a common disease, about 9.5% of the world's children suffer from chronic constipation. Most of these children live in non-Western countries. There are major misconceptions about the etiology of constipation as a significant proportion of clinicians still believe that constipation is caused by some form an organic pathology, whereas in reality, the majority have functional constipation. Contrary to a commonly held belief that children outgrow constipation without long-term problems, there is evidence that constipation leads to significant bowel and psychological consequences and has a major impact on the quality of life which detrimentally affects future health and education. Finally, ineffective management strategies such as increasing fiber and water in the diet, and short duration of treatment owing to the fear that long-term laxative treatment leads to colonic dysfunction, interfere with effective therapeutic strategies. Conclusions: It is apparent that myths and misconception often lead to wrong assumptions regarding the distribution of the disease, its etiology, pathophysiology, and management leading to ordering incorrect investigations and ineffective therapeutic strategies while spending large sums of public funds unnecessarily. Poorly treated constipation leads to deleterious psychological consequences predisposing children to develop significant psychological damage and bowel dysfunctions. This review aims to challenge these myths about various elements of constipation by exploring the existing literature and encouraging clinicians to have a fresh look at old concepts that could interfere with the well-being of children with constipation. What is Known: • Childhood constipation is a growing problem in the world leading to significant suffering and high healthcare expenditure • Myths and misconceptions lead to poor management strategies causing psychological and bowel damage What is New: • Organic, systemic, and bowel disorders leading to constipation are uncommon, and in the majority, it arises due to deliberate fecal withholding and most investigations ordered by clinicians are not very helpful in the management • Most non-pharmacological interventions are not effective in the day-to-day management of childhood constipation. The use of laxatives is considered to be the first-line management strategy.

ESULTS OF X-RAY EXAMINATION AND DETERMINATION OF BODY MASS INDEX IN PATIENTS WITH RHEUMATOID ARTHRITIS

Rheumatoid arthritis (RA) is a chronic progressive systemic disease of the connective tissue affecting the joints, mainly small, of the erosive-destructive polyarthritis type, and frequent systemic inflammatory damage to internal organs. The disease is registered in all countries of the world with a frequency from 0.4 to 1.5 %. Along with drug therapy, non-drug treatment of patients with rheumatoid arthritis is also used. In particular, an important role is given to the means of physical therapy. Determining the level of functional and organic disorders is important in the treatment and physical therapy of patients with rheumatoid arthritis, taking into account the International classification of functioning, limitations of life and health (ICF).
 The purpose is to determine the level of functional and organic disorders of the affected joints in patients with rheumatoid arthritis at different stages of the disease, in order to form a personalized approach to rehabilitation.
 Materials and methods. Analysis and generalization of data from scientific and methodological field-related literature, survey, medical history taking, objective examination, instrumental research methods (X-rays), determination of body mass index (Quetelet index), as well as methods of mathematical statistics. The study was conducted on the basis of the rheumatology department of the Municipal Enterprise “Rivne Regional Clinical Hospital named after Yuriy Semeniuk” in Rivne throughout the period from 2016 to 2018. 216 young and middle-aged patients with rheumatoid arthritis took part in the examination.
 Results. The authors suggested a scheme (algorithm) of the rehabilitation examination that included a survey, medical history taking, objective examination, the results of instrumental research methods (primarily X-rays), determination of the clinical form of rheumatoid arthritis, the disease stage and degree, as well as the course of the disease. During the initial examination of the patients with rheumatoid arthritis, a predominance of women was found, namely 82%. The main complaints of the patients were: stiffness in the joints of the upper and lower limbs after sleep, pain in the joints, swelling in the small joints of the hands, numbness of the fingers and toes, limitation of movements, periodic pains in the lumbar region. The radiological stage of rheumatoid arthritis was determined according to O. Steinbrocker et al. (1949). Stage I of rheumatoid arthritis was diagnosed in 50 patients (23%), stage II – in 102 patients (47%), and stage III – in 64 cases (30%). Patients with rheumatoid arthritis of the IV radiological stage were not included in the study. All patients underwent BMI (Quetelet index) during the initial examination. It was found that among young people (25 – 44 years old), the average BMI is 25.42, for middle-aged patients (45 – 49 years old) it amounts to 27.27, which corresponds to excess body weight. This is a negative factor in the development and progression of rheumatoid arthritis and a factor to which a comprehensive program of physical therapy will be directed.
 Conclusions. During the initial examination, it was established that the majority of patients (47 %), have the II radiological stage of the disease with characteristic radiological symptoms. One of the risk factors for the development of rheumatoid arthritis is the increased body weight [4, 6]. There is an urgent need to develop and study the effectiveness of a physical therapy program that could reduce the symptoms of the disease, the level of functional and organic disorders and improve the quality of life of patients.

Levels of Neurospecific Peptides, Neurotransmitters and Neuroreceptor Markers in the Serum of Children with Various Sensory Disorders, Mild Cognitive Impairments and Other Neuropathology

Background. The role of recently discovered neurospecific peptides in the pathogenesis of acute and progressive neurologic disorders, their neuroprotective features, and possibilities to use them as markers for the course and prognosis of certain diseases have been actively studied in recent decades. However, neurospecific peptides are almost not studied in chronic residual diseases. In our study we measured the levels of neurospecific peptides and some other markers to achieve understanding of general neurophysiological trends in congenital and acquired chronic non-progressive brain pathology with reference to the selection of relevant groups — study objects. Objective. The aim of the study is to study patterns of neurospecific peptides, neurotransmitters and neuroreceptor markers distribution in the serum of children with various pathogenetic variants of chronic neuropathology. Methods. The study included children from 3 to 16 years old with different pathologies. The sample was divided into groups by pathology type: no sensory and neurological disorders, congenital sensory deficit due to mutation of genes expressed and not expressed in the brain, early acquired sensory deficit of multifactorial nature, congenital mild and severe organic disorders of central nervous system (CNS) in residual stage without baseline sensory deficit, acquired functional CNS disorders without baseline organic defect and sensory deficit. The following laboratory data (neurophysiological components) was studied: nerve growth factor, brain-derived neurotropic factor, neurotrophin-3, neurotrophin-4, neuregulin-1-beta-1, beta-secretase, sirtuin-1, synaptophysin, neuronal nitric oxide synthase, and anti-NR2 glutamate receptor antibodies. The parameters of cognitive activity, sense of vision, sense of smell, and acoustic sense were also evaluated. Results. The study included 274 participants. Neuropeptides and markers have shown a variable degree and range in the group spectrum of differences from normal levels. The most variable in the examined sample was NO-synthase, as well as levels of both neurotrophins, beta-secretase, and glutamate receptor marker. All visual deficits were associated with increased NO-synthase levels (p < 0.001). Neuroplasticity peptides (beta-secretase, neurotrophin-3 and 4) have been activated in all pathological conditions. Nerve growth factor and brain-derived neurotropic factor were specifically activated in mild organic CNS lesions (mild cognitive impairments), while neuregulin — in congenital genetically determined visual deficits. There was no specific activation of neuropeptides and NO-synthase level tended to decrease in cases of severe CNS lesions. Conclusion. The study results suggest that all types of early visual impairment are associated with increased physiological neuronal activity, and non-organic neurological functional disorders — mainly with increased physiological synaptic activity. General neuroplasticity processes were activated in all cases of visual deficits but more specific. However, more specific and well-studied processes were activated in mild organic CNS lesions, and neuroplasticity processes did not activate adequately in severe organic CNS lesions probably due to the limited neuronal and synaptic resources.

Dietary Patterns in A Romanian Children Population with Functional Gastrointestinal Disorders

Functional gastrointestinal disorders (FGIDs) represent a group of chronic and recurrent symptoms in the absence of any organic proven disorder [1]. There are several factors involved in the pathogenesis, although no single cause could be identified and addressed properly, like motility disturbances, genetic implications, environmental factors, visceral sensitivity, psychologic alterations, and gut-brain disturbances [2].

TRIM27 maintains gut homeostasis by promoting intestinal stem cell self-renewal.

Dysregulation of gut homeostasis is associated with irritable bowel syndrome (IBS), a chronic functional gastrointestinal disorder affecting approximately 11.2% of the global population. The poorly understood pathogenesis of IBS has impeded its treatment. Here, we report that the E3 ubiquitin ligase tripartite motif-containing 27 (TRIM27) is weakly expressed in IBS but highly expressed in inflammatory bowel disease (IBD), a frequent chronic organic gastrointestinal disorder. Accordingly, knockout of Trim27 in mice causes spontaneously occurring IBS-like symptoms, including increased visceral hyperalgesia and abnormal stool features, as observed in IBS patients. Mechanistically, TRIM27 stabilizes β-catenin and thus activates Wnt/β-catenin signaling to promote intestinal stem cell (ISC) self-renewal. Consistent with these findings, Trim27 deficiency disrupts organoid formation, which is rescued by reintroducing TRIM27 or β-catenin. Furthermore, Wnt/β-catenin signaling activator treatment ameliorates IBS symptoms by promoting ISC self-renewal. Taken together, these data indicate that TRIM27 is critical for maintaining gut homeostasis, suggesting that targeting the TRIM27/Wnt/β-catenin axis could be a potential treatment strategy for IBS. Our study also indicates that TRIM27 might serve as a potential biomarker for differentiating IBS from IBD.

Mental Health, ART Adherence, and Viral Suppression Among Adolescents and Adults Living with HIV in South Africa: A Cohort Study

We followed adolescents and adults living with HIV aged older than 15 years who enrolled in a South African private-sector HIV programme to examine adherence and viral non-suppression (viral load > 400 copies/mL) of participants with (20,743, 38%) and without (33,635, 62%) mental health diagnoses. Mental health diagnoses were associated with unfavourable adherence patterns. The risk of viral non-suppression was higher among patients with organic mental disorders [adjusted risk ratio (aRR) 1.55, 95% confidence interval (CI) 1.22–1.96], substance use disorders (aRR 1.53, 95% CI 1.19–1.97), serious mental disorders (aRR 1.30, 95% CI 1.09–1.54), and depression (aRR 1.19, 95% CI 1.10–1.28) when compared with patients without mental health diagnoses. The risk of viral non-suppression was also higher among males, adolescents (15–19 years), and young adults (20–24 years). Our study highlights the need for psychosocial interventions to improve HIV treatment outcomes—particularly of adolescents and young adults—and supports strengthening mental health services in HIV treatment programmes.

An impact of the COVID-19 pandemia on the onset and course of mental disorders in elderly

To study the impact of COVID-19 on the onset and course of mental disorders in hospitalized elderly patients. We studied 67 inpatients, aged 50 to 95 years, with various mental illnesses in accordance with the ICD-10 criteria, who underwent COVID-19 from February 2020 to December 2021. Forty-six people were previously mentally ill, in 21 cases the disease developed for the first time. The group of primary diseased patients was dominated by depressive episodes (F32, (42.9%), including psychotic episodes (9.5%). In 28.6% of cases, organic disorders were diagnosed in the form of emotional lability (F06.6), organic depression (F06.3), mild cognitive impairment (F06.7) and delirium (F05.86). In 23.8% of patients, neurotic disorders were observed in the form of depressive reactions (F43), panic (F41.0) and generalized anxiety disorder (F41.1). In one case (4.8%), acute polymorphic psychosis with symptoms of schizophrenia (F23.1) was diagnosed. The diagnoses of the previously mentally ill group were: affective disorders (F31, F32, F33 - 45.7%); organic disorders, including dementia (F06.3, F06.7, F00.1, F00.2 - 26.1%); schizophrenia spectrum disorders (F25, F21, F22, F20.01 - 19.6%), and neurotic somatoform disorders (F45 - 8.7%). In the acute and subacute periods of COVID-19 (≤3 months), acute psychotic states (APS) developed in both groups of patients (in 23.3% and 30.4%, respectively) in the form of delirium, psychotic depression, or polymorphic psychosis. APS were more common in mentally ill patients with organic (50%) and schizophrenia spectrum (33.3%) disorders with a predominance of delirium. In the long-term period of COVID-19, mentally ill patients more often than primary diseased patients (60.9% and 38.1%) developed cognitive impairment (CI), especially in schizophrenic (77.8%) and organic (83.3%) disorders. CI developed twice as often after APS (89.5% and 39.6%, p<0.001), reaching the degree of dementia in 15.8% of cases. APS were significantly associated (p<0.05) with the development of CI (0.567733), the age of patients (0.410696) and the presence of previous cerebrovascular insufficiency (0.404916). The age-related features of the mental consequences of COVID-19 are the occurrence of APS in the acute period of infection and the deterioration of cognitive activity at a remote stage. The mentally ill, especially those of the organic and schizophrenia spectrum, were found to be more vulnerable to the effects of COVID-19. In them, the occurrence of APS was a risk factor for the development of dementia, while in primary diseased, affective and neurotic patients, CI was reversible or had the character of a mild cognitive disorder.

Psychiatric Morbidity Among Older Hospitalized Patients.

Globally, life expectancy is increasing, leading to an equal proportion of elderly and young individuals, which carries extensive implications. In Bosnia and Herzegovina (BiH), the average age at death in 2021 was 77 years, positioning BiH in the middle of the global list of average life expectancy. Current studiesinvestigate whether the prevalence of psychiatric disorders increases or decreases with age, but results are inconsistent regarding the role of age.There is no prior research on mental disorders in the elderly population in BiH. The experience of the previous war in BiH and the post-war complex "transitional period" have been associated with specific challenges to the mental health of this population, inspiring our research topic. The aim of this study was to investigate the psychiatric morbidity in hospitalized individuals aged≥55 years. The sample consisted of all patients over age 55 treated at the Department of Psychiatry in Tuzla between January 2018 and December 2020 (N=637), divided into four age categories. Data were obtained from medical records, and for research purposes, a specific questionnaire was constructed. The predominant psychiatric morbidity stemmed from the category of affective disorders, most common within the "55-64 years" age group, while organic mental disorders were more prevalent in other age groups.Substance use disorders were present in patients aged "55-64 years", with a sharp decline in their prevalence in older age. Female participants had a significantly higher prevalence of affective, psychotic, neurotic, and stress-related disorders, whereas male participants exhibited an increased prevalence of organic mental and substance use disorders. In total sample, the most prevalent diagnoses belong to the category of affective disorders. Female were most frequently diagnosed with affective disorders, whereas organic mental disorders and substance use disorders prevail in male.

Organic mental disorders with comorbid alcoholism in the elderly

Elderly people are particularly vulnerable to comorbid disorders. The age-related weakness, cognitive decline, and criticism create favorable conditions for the formation of traumatic situations and is often accompanied by an increase in alcohol consumption, which in some cases leads to the formation of mental and physical dependence. Alcohol abuse leads to exacerbation of somatic disorders, the frequency of which increases with age. Alcoholism in the elderly leads to the accelerated development of organic mental disorders of varying severity. In turn, organic mental disorders lead to aggravation and complication of alcoholism. The formed comorbid disorder makes it difficult to diagnose and provide therapeutic and preventive measures.

Incidence and Clinical Features of Venous Thromboembolism in Inpatients with Mental Illness.

We investigated the incidence and clinical features of venous thromboembolism (VTE) in inpatients with mental illnesses. We retrospectively analyzed records of inpatients with mental illnesses and confirmed VTE at The First Hospital of Hebei Medical University between August 2018 and July 2022. We recorded demographic characteristics, psychosis-related conditions, and thrombus distribution. Among 12939 patients diagnosed with mental illness, 156 (1.21%) presented with VTE at the first visit or during the disease course. Crude VTE incidence varied significantly across mental illnesses, being highest in patients with organic mental disorders (5.20%), followed by emotional disorders (1.10%), and others (P < 0.001). Distal and proximal deep venous thromboses (DVT) occurred in 79.17% and 20.84% of patients, respectively. The Hamilton Depression Scale (HAMD) score was higher in patients with proximal DVT than in those with distal DVT (P < 0.001). On multivariate analysis, the HAMD score (odds ratio [OR] 1.173, confidence interval [CI] 1.100-1.251, P＜0.001) was a risk factor and the Hamilton Anxiety Scale (HAMA) (OR 0.862, CI 0.796-0.934, P＜0.001), a protective factor against DVT progression. VTE is not rare in patients with mental illnesses and is most commonly associated with organic mental disorders. Psychosis-related DVT typically shows a significantly high incidence of distal DVT. Prevention and early treatment in patients with severe depression and distal DVT can prevent DVT aggravation.

Inflammatory markers in organic nonpsychotic disorders

To determine the indicators of systemic inflammation in peripheral blood samples of patients with organic non-psychotic disorders. The study included 60 patients, aged 56.9±7.7 years, with a disease duration of 7.3±5.55 years, with a verified ICD-10 diagnosis «Organic emotionally labile (asthenic) disorder» (F06.6) and «Organic Anxiety Disorder» (F06.4). Patients with organic asthenic disorder were divided into two groups according to the prevailing symptoms: 36 patients with asthenic-cephalgic syndrome (AC); 10 patients with astheno-dysthymic syndrome (AD); the third group (n=14) included patients with organic anxiety disorder (AND). The control group consisted of 65 people matched for age and sex with patients. The activity of leukocyte elastase (LE) and α1-proteinase inhibitor (α1-PI) was determined by the spectrophotometric method, the levels of aAB to S100b and MBP were determined by ELISA. The protease-inhibitory index (PII), i.e., the ratio of LE activity to α1-PI, was calculated. A significant increase in LE (235.4 [216.4; 258.1] nmol/min*ml, p<0.001), the functional activity of α1-PI (43.1 [38.7; 47.6] u/ml, p<0.001), the level of aAB to S100b (0.78 [0.70; 0.89] opt.units, p<0.05) and a decrease in PII (6.19 [5.32; 6.9], p<0.05) in the group of patients with organic non-mental disorders compared with controls were shown. Deviations from the normal values of immune markers of inflammation in blood samples were also found in various syndromes. Clustering of the total group of patients by LE activity made it possible to identify 2 immunotypes with a balanced and unbalanced inflammatory process, confirming the clinical diversity of the disease: 60% of patients with AC syndrome belong to the 1st cluster, in which the ratio of immune markers characterizes a balanced inflammatory process aimed at restoration of homeostasis; 80% of patients with organic AND belong to the second cluster, which characterizes low proteolytic activity and imbalance of inflammation, which is an unfavorable prognostic factor in terms of the further course of the disease and therapy. The results confirm the importance of the inflammatory link in the neuroprogression of organic non-psychotic disorders. The identified features of the immune response can serve as an additional paraclinical criterion for differential diagnosis and evaluation of the prognosis of the further development of the disease.

Are antidepressants effective in treating depersonalization derealization disorder: Inference from a case series

ABSTRACT Depersonalization derealization disorder is a clinical entity where the individual experiences a sense of being detached from his or her own body, feelings, sensations or actions, and the surroundings appear to be unreal, as if occurring in a dream. However, reality testing remains intact. Primary depersonalization derealization disorder is rare, while such experiences occur more commonly in association with anxiety disorders, depressive disorders, psychosis and substance use, and also in organic brain disorders like seizure disorder or head trauma. Such disorders lie somewhere in between frank psychosis and neurosis, and there is a lack of consensus regarding treatment protocols. Here we have presented three such cases, who responded partially to antidepressant treatment, with adjuvant behavior therapy in one case. Available literature suggests that antidepressants such as selective serotonin reuptake inhibitors and cognitive behavior therapy might be effective in treating such disorders. Further research is needed to formulate more effective treatment options for this disorder.

ACTIVITY-BASED COSTING: A PRACTICAL MODEL OF COST CALCULATION IN PSYCHIATRIC HOSPITALS.

The aim: This paper is an analytical and descriptive study of the use of the Activity Based Costing (ABC) system in mental healthcare institutions for the allo¬cation of overhead costs of auxiliary units that provide non-medical services. The realistic estimates obtained using this costing system will help improve the allocation of resources, especially in the conditions of increased number of patients, and to control overhead costs, ensuring the reduction of non-productive expenses, increasing the efficiency and effectiveness of the mental health and psychosocial support institution. Materials and methods: The study describes and uses ABC as a system and method for calculating inpatient care costs in 2022. The cost of medical services will be calculated as the sum of direct and overhead costs. Overhead costs into inpatient care consist of medical support units overhead costs and non-medical support units overhead costs. Overhead costs in non-medical support units were allocated to the cost of services within the cost centers:hospital departments that specialize in the treatment of specific mental health conditions. Expert opinion regarding the alignment of the cost allocation base with the factors identified for the allocation of each group of overhead costs in the mental health and psychosocial support facility was taken into account . Results: Calculations showed the impracticality of using a single tariff for psychiatric care medical services for adults and children in inpatient conditions, since there are cost centers, namely, clinical departments of health care institutions, which consume a larger amount of resources. In particular, these are the departments providing the treatment of psychotic disorders caused by taking psychoactive substances, as well as schizophrenic, organic disorders, including symptomatic, mental disorders). Accordingly, the tariff for such medical services should be higher. Conclusions: ABC is applicable in mental health care institutions and can help to efficiently cost processes, and thereby overcome a key challenge: to overesti¬mation or underestimation of costs into a medical services. Cost assignment through ABC generated more accurate cost estimates, which suggests that model of cost calculation ABC is more able to address complexity in mental health care institutions. ABC should be gradually incorporated into an estimated approach to costing leads, to progressively bring reliable cost-accounting practices to mental health care institutions.

Diagnostic features of multiple organic system disorders associated with COVID-19 in a child of primary school age

The advent of the COVID-19, specialists are increasingly encountering previously unknown pathological conditions in their practice. For some time, we have believed that COVID-19 in children is most often mild and asymptomatic. However, with the passage of time and the accumulation of the experience, it became obvious that the new infectious disease it will be quite severe in children. Differential diagnosis of multiple organ disorders in children during the COVID-19 pandemic should be primary carried out with the Multisystem Inflammatory Syndrome in Children, associated with COVID-19 (MIS-C), as well as Long-COVID-19. According to published data, the manifestations of these conditions are due to frequent lesions of the gastrointestinal tract (60–100 %), cardiovascular (80 %), nervous (29–58 %) and respiratory (21–65 %) systems. At present, there is no exact idea of these pathological conditions, the criteria for their diagnosis and the tactics of managing children, not only at the stage of diagnosis, but also at the stage of observation. The authors present a diagnostically complex clinical case describing the development of multiple organ damage in a 7-year-old child after contact with a mother who was sick with COVID-19. The data on the course features, the results of the examination and the difficulties of differential diagnosis of this case with other diseases with a similar clinic are summarized.

Fear of the Unknown among Normal People, People with Psychological Disorders, and People with Organic Disorders in the Light of Some Demographic Variables

Fear of the Unknown among Normal People, People with Psychological Disorders, and People with Organic Disorders in the Light of Some Demographic Variables

Mass spectrometry for screening of metabolic disorders

Background/aim Inborn errors of metabolism (IEM) are a group of congenital disorders that result from deficiency of enzymes or transporters involved in different metabolic pathways in the human body. The most severe form of these disorders appears early in the neonatal period; however, most types of IEMs are responsive to treatment if started early enough before the appearance of serious complications. The introduction of mass spectrometric techniques for analysis of metabolites accumulated in IEM facilitates the early diagnosis through enabling analysis of a large number of samples in a short period of time using small sample sizes suitable for patients in the neonatal period. The aim of this study was to find out the prevalence of amino acids, fatty acids, and organic acids disorders, using mass spectrometry among Egyptian children with metabolic disorders who were referred to the Biochemical Genetics Lab, Human Genetics, and Genome Research Institute, National Research Centre, Cairo, Egypt, over a period of 9 years. Patients and methods The present study enrolled 9245 children who visited Biochemical Genetics Department, Human Genetics, and Genome Research Institute, National Research Centre Cairo, Egypt, during the period from 2013 to 2021. All children were subjected to quantitative analysis of amino acids and acylcarnitine profiles in blood, using liquid chromatography/tandem mass spectrometry, whereas qualitative analysis of organic acids was done in urine by gas chromatography/mass spectrometry. Results Of 9245 suspected patients, 552 (5.97%) patients were diagnosed with 13 different types of IEM. A total of 383 (4.1%) patients were diagnosed with aminoacidopathies, 167 (1.8%) patients were diagnosed with organic acidurias, and two (0.02%) patients were diagnosed with fatty acid oxidation disorders. Phenylketonuria is the most prevalent IEM of this study (2%) followed by maple syrup urine disease (0.98%). Conclusion The simultaneous analysis of amino acids and acylcarnitines in dried blood spots with analysis of organic acids in urine using mass spectrometry provides an integrated panel for the early detection of IEMs in early years of life, facilitating prompt provision of treatment and avoiding serious complications that can be fatal.