Organic Disorders Research Articles

Chapter 11 - White matter abnormalities in amino acid disorders and organic acidurias

Inborn errors of metabolism (IEMs) are traditionally the domain of pediatricians and internists for metabolic diseases. In general, neurologists only become involved when these disorders are complicated by neurologic symptoms such as seizures, developmental delay, or motor problems. However, in recent years and mainly due to the successes of next-generation sequencing, the number of IEMs primarily presenting with neurologic symptoms and not detected by classic biochemical testing has grown significantly. This in particular relates to disorders in the biosynthesis of amino acids. Therefore, I will start by discussing defects in the synthesis pathways of the amino acids serine, glutamine, proline, and asparagine. In these disorders, the amino acid can be low in body fluids with biochemical testing, but more frequently are completely normal and although are in different metabolic pathways, they share many clinical features such as hypomyelination and white matter abnormalities. Next, I will discuss classic amino acid disorders and organic acid disorders due to defects in breakdown pathways characterized by elevations of key metabolites in body fluids and associated with neurologic abnormalities and white matter changes on MRI.

Huntington’s disease associated with psychotic features

Abstract: Huntington’s disease (HD) is a rare, progressive, fatal, and autosomal dominant neurodegenerative disorder characterized by a triad of abnormal choreatic movements, cognitive disorders, and psychotic symptoms. A very small group presents with psychotic features. In this report, we present a case of HD with psychotic features and a diagnosis of HD. We describe a 29-year-old male with a history of behavior changes, delusions of persecution, and auditory hallucinations, which on mental status examination were suggestive of organic delusional disorder (schizophrenia-like).

Depressive Disorder in Primary Hyperparathyroidism and Effects of Surgery in Elderly Patients: Case Series

Background: Patients with primary hyperparathyroidism (PHPT) often present nonspecific symptoms such as major depressive disorder and psychosis. Calcium plays a role in the pathogenesis of psychiatric symptoms by determining changes in monoamine metabolism in the central nervous system, thereby modifying neurotransmission and resulting in mood and cognitive alterations. Case series: This report presents a case series of 3 patients; 70-year-old, 78 year- old and 94 year-old women with PHPT and severe depression symptoms and its response to parathyroidectomy. The patients were a poor historian. Results of preoperative laboratory tests showed an increased serum calcium level (11.15mg/dL, 10.9 mg/dL and 11.4 mg/dL- reference range 8.4-10.2 mg/dL). A repeat serum calcium test confirmed hypercalcemia with concurrent elevated intact parathyroid hormone level. Two patients were undergone at parathyroidectomy. A 94 year-old patient refuse surgical approach and was efficacy treated with a single dose of zoledronic acid. Therefore, the patients underwent parathyroidectomy two months after procedure had a clinical improvement on depressive symptoms. There was any recurrent laryngeal nerve injury or recurrent PHTP. Conclusion: The presence of a long-standing depressive disorder unresponsive to medical therapy may suggest an organic disorder such as chronic hypercalcemia which may be secondary to PHPT. Surgical intervention in these selected cases can assist medical therapy in the improvement of depressive symptoms.

Correlation between psychological diagnosis (Rorschach Psycho-diagnostics) and clinical diagnosis

Background: A wide acceptance of the Rorschach test is shown in clinical practice and clinicians choose the test not only as a diagnostic instrument but as a therapeutic practice also, sometimes variety of opinion comes from health professionals and the validity of the test result become more challenging. It creates a cognitive dilemma and the clinician has two options: either choice to accept or reject the diagnosis. Material & Methods: A total 80 cases were selected from the psychiatry ward and written informed consent was taken. Socio-demographical data sheet was applied. Without knowing the history and other diagnostic variables, the Rorschach test was administered to make a psychological diagnosis by a qualified clinical psychologist and the clinical diagnosis was made through ICD-10 DCR criteria by the competent psychiatrist. Results: Among the participants, 37.5% belonged to 29-39 years age group; 58.75% were male. Most of the study samples were married (71.25%), 32.5% were educated up to 6-10th standard. The majority (38.75%) of the participants were unemployed and 51.25% belonged to rural areas. A majority, ie: 47.5% were in the middle-income group (50-74K) and living in a nuclear family (83.75%). Schizophrenia was the most frequent diagnosis in both categories, 38.75% belonging to the Rorschach diagnosis and 33.75% in the clinical category followed by Depression, mania, anxiety, obsession, psychosis, organic, and conversion disorder. Overall, a high correlation was found between both diagnostic categories (X2 =4.1, P=0.75). Conclusion: The findings of the study suggest that a high level of correlation was found between clinical diagnosis and Rorschach psycho-diagnosis.

A Case of Pulmonary Tuberculosis Misconceived as Functional Dysphonia

Functional dysphonia (FD) refers to a voice disorder without any anatomical or neurologic pathology affecting the larynx. The beginning of a diagnosis of FD is to differentiate the patient’s voice symptoms from other organic voice disorders and other functional voice problems. Pulmonary tuberculosis initially presented by voice change is very rare. This atypical presentation might cause some confusion due to other more common diseases. We report a case of pulmonary tuberculosis as initial presentation of dysphonia in a 16-year-old girl. The patient was referred to our hospital with a gradually worsening dysphonia for 6 months. At first, it was misdiagnosed as FD because there was no specific finding on stroboscopy. One month later, she was finally diagnosed as pulmonary tuberculosis due to fever and pleuritic pain. After antituberculous therapy, her symptoms and voice have improved.

Electrophysiology in Functional Movement Disorders: An Update.

Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as tremors, dystonia, jerks/myoclonus, gait disorder, other abnormal movements or a combination. There has been an increase in the use of electrophysiological studies that are an important tool in the evaluation of FMDs. We searched the database platforms of MEDLINE, Google scholar, Web of Sciences, Scopus using the Medical Subject Heading terms (MeSH) for all the articles from 1st January 1970 till November 2022. A total of 658 articles were obtained by the search mechanism. A total of 79 relevant articles were reviewed thoroughly, of which 26 articles that had electrophysiological data were included in the present review. Variability, distractibility and entertainability can be demonstrated in functional tremors by using multichannel surface electromyography. Voluntary ballistic movements tend to decrease the tremor, while loading the tremulous limb with weight causes the tremor amplitude to increase in functional tremor. Presence of Bereitschaftspotential demonstrates the functional nature of palatal tremor and myoclonus. Co-contraction testing may be helpful in differentiating functional from organic dystonia. The R2 blink reflex recovery cycle has been found to be abnormally enhanced in organic blepharospasm, whereas it is normal in presumed functional blepharospasm. Plasticity is found to be abnormally high in organic dystonia and normal in functional dystonia, in addition to enhanced facilitation in patients with organic dystonia. Electrophysiological tests supplement clinical examination and helps in differentiating FMD from organic movement disorders.

The impact of biological and psychosocial factors on the formation of mental disorders in patients who have experienced COVID-19 and exposed to the stressors of the SARS-COV-2 pandemic

The article is devoted to aspects of the formation of clinical manifestations of mental disorders during the COVID-19 pandemic. The goal – to investigate the clinical and anamnestic features and their impact on the formation of psychopathological consequences in patients with first diagnosed mental disorders who have experienced COVID-19 and exposed to the stressors of the SARS-CoV-2 pandemic. 97 patients with first diagnosed mental disorders who have experienced COVID-19 and exposed to the stressors of the SARS-CoV-2 pandemic were examined and made up the main group. The comparison group included 58 people without mental disorders who have experienced COVID-19 and exposed to the stressors of the SARS-CoV-2 pandemic. During the study, a thorough analysis of the anamnesis of the disease was carried out, including information about the experienced coronavirus disease COVID-19, the impact of the stressors of the SARS-COV-2 pandemic, and the features of the initial psychopathological manifestations. Clinical-psychopathological, clinical-amnestic methods using the developed questionnaire containing questions that reflect the impact of the coronavirus disease COVID-19 and the stressors of the SARS-CoV-2 pandemic on the mental health of the general population, classification of COVID-19 by degree of severity, "empirical" percentage visual scale (KT 0-4), and methods of statistical analysis were applied. The obtained data of a comprehensive study made it possible to distinguish among patients with first diagnosed mental disorders 3 subgroups with characteristic differences in the course and conditions of treatment of the experienced coronavirus disease COVID-19, the structure and significance of the stressors of the SARS-COV-2 pandemic, which the patients encountered, initial psychopathological manifestations. It has been established that the psychopathological consequences of the complex impact of the coronavirus disease COVID-19 and the stressors of the SARS-CoV-2 pandemic lead to the formation of first diagnosed mental disorders in individuals from the general population, among whom the most common forms of mental pathology are depressive episodes, neurotic, associated with stress and somatoform disorders and organic mental disorders. The significance of the obtained data lies in the possibility of studying the role of the psychopathological consequences of COVID-19 in the genesis of mental disorders.

Non-standard diagnostic assessment reliability in psychiatry: a study in a Brazilian outpatient setting using Kappa.

The use of Structured Diagnostic Assessments (SDAs) is a solution for unreliability in psychiatry and the gold standard for diagnosis. However, except for studies between the 50s and 70s, reliability without the use of Non-SDAs (NSDA) is seldom tested, especially in non-Western, Educated, Industrialized, Rich, and Democratic (WEIRD) countries. We aim to measure reliability between examiners with NSDAs for psychiatric disorders. We compared diagnostic agreement after clinician change, in an outpatient academic setting. We used inter-rater Kappa measuring 8 diagnostic groups: Depression (DD: F32, F33), Anxiety Related Disorders (ARD: F40-F49, F50-F59), Personality Disorders (PD: F60-F69), Bipolar Disorder (BD: F30, F31, F34.0, F38.1), Organic Mental Disorders (Org: F00-F09), Neurodevelopment Disorders (ND: F70-F99) and Schizophrenia Spectrum Disorders (SSD: F20-F29). Cohen's Kappa measured agreement between groups, and Baphkar's test assessed if any diagnostic group have a higher tendency to change after a new diagnostic assessment. We analyzed 739 reevaluation pairs, from 99 subjects who attended IPUB's outpatient clinic. Overall inter-rater Kappa was moderate, and none of the groups had a different tendency to change. NSDA evaluation was moderately reliable, but the lack of some prevalent hypothesis inside the pairs raised concerns about NSDA sensitivity to some diagnoses. Diagnostic momentum bias (that is, a tendency to keep the last diagnosis observed) may have inflated the observed agreement. This research was approved by IPUB's ethical committee, registered under the CAAE33603220.1.0000.5263, and the UTN-U1111-1260-1212.

Characteristics of older patients in the largest French psychiatric emergency centre.

Despite an increasing number of adults older than 60 years with psychiatric disorders, there are few studies on older patients in psychiatric emergencies and no European data. We aimed to describe the population of patients aged 60 years and older who presented to the main French psychiatric emergency centre and identify predictors of psychiatric hospitalization. This monocentric study included 300 consecutive patients aged 60 years and older. Patients presenting because of psychiatric emergencies were frequently female and lived autonomously. More than 40% had a history of at least one psychiatric hospitalization and 44% had consulted a psychiatrist in the previous 6 months. The most common reasons for consultation were depression, anxiety, sleep disorders and suicidal thoughts. Psychiatric disorders were mainly mood disorders; neurotic, stress-related and somatoform disorders; and schizophrenic, schizotypal and delusional disorders. Only 10% had a diagnosis of organic mental disorders. Overall, 39% of the patients were admitted to the psychiatric hospital. Factors predicting hospitalization were a history of psychiatric hospitalization, suicidal thoughts and a diagnosis of a mood disorder or schizophrenia/schizotypal/delusional disorder. In conclusion, among people aged 60 years and older who consulted for psychiatric emergencies, 39% had to be hospitalized in psychiatry and only psychiatric factors influenced the decision to hospitalize. Our study highlights the need for further studies of older people in psychiatric emergencies in Europe, to anticipate the needs of this specific population and adapt multidisciplinary mental health care.

Comparison of Traditional Articulation Therapy and Picture Articulation Test in Children with Articulation Disorders

Background: Articulation disorders in children can impede communication and social interaction. Traditional Articulation Therapy (TAT) and the Picture Articulation Test (PAT) are two contrasting approaches employed to address these disorders. While TAT is a conventional method focusing on sensory-perceptual training and sound stabilization, PAT uses visual aids to assess and encourage correct speech sound production. Objective: The study aimed to evaluate and compare the efficacy of TAT and PAT in treating substitution errors in children with articulation disorders. Methods: Employing a randomized sampling technique, the study included 10 children with functional articulation disorders, aged 8 to 18 years, from both genders. Exclusion criteria included organic articulation disorders. Participants were divided into two groups at REX Medical Center, Lahore, and treated over a six-month period, with two sessions per week lasting 30-40 minutes. Pre- and post-intervention assessments were conducted using the Articulation Assessment Test and the Articulation Severity Rating Scale. Data analysis was performed using SPSS 24, with paired and independent sample t-tests. Results: TAT showed a significant reduction in substitution error scores from pre- to post-intervention across all error types (initial, middle, and final), with significant p-values indicating improvement (p ≤ 0.05). PAT did not demonstrate a significant reduction in error scores, with p-values exceeding the threshold of significance. Conclusion: TAT was found to be more effective than PAT in decreasing substitution errors in children with articulation disorders. The findings advocate for the application of TAT in clinical settings, while recognizing the potential for integrating traditional methods with newer technologies to optimize treatment outcomes.

Clinical Manifestations.

Memory complaints are common in elderly and have various etiologies, including functional cognitive disorder (FCD). Diagnosis of FCD is supported by clinical evidence of incongruity with a neurodegenerative disorder and/or evidence of internal inconsistency - the ability to perform a task well at certain times, but with impaired ability at other times. The prevalence of features suggesting FCD in organic disorders is unclear. We assessed the presence of clinical features of internal inconsistency and other possible discriminators of FCD from organic causes in patients with mild cognitive impairment (MCI) and subjective cognitive impairment (SCI). Patients attending our tertiary memory clinic in a period of one year with SCI or MCI were included. Exclusion criteria were toxic or metabolic causes of cognitive decline, major psychiatric disorders, co-morbid neurological conditions that could affect cognition, and uncertainty of diagnosis of organic disorder or FCD. Medical records were reviewed for evidence of internal inconsistency and other suggested discriminators between functional and organic etiology. Demographic, cognitive and clinical data were compared between groups. We evaluated 39 patients with FCD and 57 with organic disorders. MCI was more common in patients with organic disorders. However, most patients with FCD also had MCI. Patients with FCD were younger and performed better on cognitive assessments, but with significant overlap between groups (Table 1). While patients with FCD more commonly attended the appointment alone and reported greater concern about their symptoms than their supporters, these features were unspecific (Table 2). Patients with FCD reported symptoms that could represent normal experiences and provided detailed descriptions of memory lapses more commonly. While less sensitive, memory perfectionism and symptoms occurring only in specific situations were highly specific for FCD. Differentiation between functional and organic cognitive disorders based on history and examination can be challenging. Features suggesting internal inconsistency and incongruity with neurodegeneration may also appear in organic causes of SCI and MCI. Their varying specificity and sensitivity for FCD need to be taken into account when considering the diagnosis. Improving the identification of FCD could in turn improve identification of patients with prodromal neurodegeneration.

Impact of heat on mental health emergency visits: a time series study from all public emergency centres, in Curitiba, Brazil

ObjectivesQuantify the risk of mental health (MH)-related emergency department visits (EDVs) due to heat, in the city of Curitiba, Brazil.DesignDaily time series analysis, using quasi-Poisson combined with distributed lag non-linear...

Progress of newborn screening in China.

Newborn screening (NBS) plays a significant role in reducing the risk of birth defects. NBS in China began in the early 1980s. Under the protection of laws and regulations and the leadership of the national health administration, approved screening centers in public hospitals took the responsibility for publicity, screening, diagnosis, treatment, follow-up and management of birth defects. As of 2022, 31 provinces (autonomous regions and municipalities directly under the central government) have carried out NBS for phenylketonuria, congenital hypothyroidism, and hearing loss, 23 provinces have carried out screening for glucose-6-phosphate dehydrogenase (with a screening rate of 89.24%), and 24 provinces have carried out screening for congenital adrenal cortical hyperplasia (91.45% screening rate). Over the past four decades, screening techniques have evolved from bacterial inhibition, fluorescence analysis, and tandem mass spectrometry for the detection of biochemical markers to genetic testing, which has greatly contributed to the expansion of the types of diseases screened for. The combined use of metabolomics and genomics is currently being explored. Effective management and rigorous quality control of NBS are prerequisites for improving the quality and ensuring the accuracy of screening. The Quality Management System for Newborn Screening System Network (QMS-NBS), established by the National Center for Clinical Laboratories, covers all screening centers and related blood collection agencies. The operation of the QMS-NBS allows the quality and performance of screening to be transparent and measurable, ensuring the quality and efficiency of screening. This article provides an overview of the history of NBS, especially the evolution of policies for the NBS in China, the construction of screening institutions, the number of newborns screened, the incidence rates of screened diseases, the changes in screening technology, the expansion of new diseases screened for, and the quality control of NBS. Overall, the progress in NBS in China has not only benefited from the development and standardization at the technological level, but also benefited from the construction of policies, regulations and ethics.

Neurocognitive deficit in organic personality disorders in persons subject to prosecution in criminal cases

Neurocognitive deficit in organic personality disorders in persons subject to prosecution in criminal cases

Impact of loneliness and social isolation in older people in Japan

A decline in social functioning is a hallmark of dementia and is associated with worsening cognitive impairment, various behavioral and psychological symptoms, and caregiver burden. Since the feeling of loneliness is related to social function decline in people with mild cognitive impairment (MCI) and dementia, care for the social isolation that can cause loneliness is considered important in Japan, where the number of older people living alone is increasing.In addition to dementia, late-onset psychosis is also known to be affected by loneliness and social isolation. Psychosis that develops after age 60 and does not involve organic or affective disorders is defined as very late-onset schizophrenia-like psychosis (VLOSLP) and is known to be different in quality from psychosis that develops at a younger age. Social isolation has been reported as one of risk factors of VLOSLP, and although people with VLOSLP are independent in daily life, their social functioning is impaired in a way that is different from dementia due to their abnormalities in the content of thinking. Therefore, social isolation and decline of social functioning are also major problems for VLOSLP. Longitudinally, people with VLOSLP are more likely than the general older population to progress to dementia including Lewy body disease and Alzheimer’s disease subtypes. With the increasing importance of early diagnosis and intervention of these neurodegenerative diseases, identification and intervention of people with VLOSLP is a challenging but important topic.We are now investigating the use of robots with communication capabilities aiming to improve loneliness and social isolation of older people living alone with MCI, mild dementia and VLOSLP. On the other hand, we have found that loneliness in MCI and mild dementia does not necessarily correlate with social isolation status, such as living alone, indicating that loneliness and social isolation among older people requires further research.

Clinical and morphological forms of chronic pancreatitis: features of development, diagnosis and treatment

Introduction. Chronic pancreatitis (CP) is a common disease with a complex pathogenesis, characterized by difficulties in its diagnosis and treatment. Purpose of the study. To determine the main pathogenetic links of clinical and morphological forms of CP, markers of disease progression, to develop a diagnostic algorithm and principles of treatment of patients. Material and methods. 210 patients with CP were examined, who were divided into 4 groups: I - obstructive, II - calcifying, III - fibrous-parenchymal, IV – CP, complicated by pseudocyst. Instrumental, functional, morphological, biochemical, immunological, microbiological methods were used. To study the main morphological and biological changes in the pancreas during the development of CP and to study the effectiveness of the proposed treatment, we conducted experimental studies on 45 laboratory white Wistar male rats weighing 180-230 g. Results. Imbalance of the immune system, oxidative stress, toxic-metabolic disorders, and diseases of the biliary system are important in the development of various forms of CP. However, there are differences in the severity of these changes. The most pronounced activity of fibrotic processes in the pancreas is typical for patients with a long course of the disease and in the presence of complications (pseudocyst). The most unfavorable course and prognosis are seen in the calcifying form of CP. The markers of CP progression are the value of the calcification coefficient of 0.5-1.0, the translocation of DNase I from the cytoplasm to the nucleus of the acinar cell, the activation of collagen formation, the increase in the level of fibrosis activators (TGF-β1, TNF-a), and the intensification of lipid peroxidation processes. An early marker of apoptosis is the translocation of DNase I from the cytoplasm to the nucleus of an acinar cell. Conclusions. The developed diagnostic algorithm allows assessing the pathophysiological features of functional and organic disorders of the pancreas, predicting the course of the disease and choosing the optimal treatment. The proposed treatment of patients with CP effectively reduces the severity of pain and oxidative stress, normalizes the cytokine profile, improves the general condition and quality of life of patients.

Preceding Benign Paroxysmal Positional Vertigo as a Trigger for Persistent Postural-Perceptual Dizziness: Which Clinical Predictors?

Persistent postural-perceptual dizziness (PPPD) is a syndrome described as secondary, when it is the consequence of an organic disorder (s-PPPD), or primary, when no somatic triggers can be identified. We evaluated a group of patients diagnosed as s-PPPD, with Benign Positional Paroxysmal Vertigo (BPPV) as the main somatic trigger, with the aim of identifying the predictive clinical elements of evolution towards PPPD. Retrospective case review. Tertiary referral center. We evaluated 126 patients diagnosed with PPPD; 54 patients were classified as p-PPPD (43%) and 72 as s-PPPD (57%). Of these, 51 patients had BPPV as a somatic trigger of PPPD, and in this group, we evaluated the prevalence of some clinical features (age, sex, latency between the onset of BPPV and the final diagnosis, recurrence of BPPV and the presence of migraine headache) for comparison with a group of patients who suffered from BPPV without an evolution towards PPPD (control group). In the group with PPPD secondary to BPPV, we found a significantly higher mean age and a longer latency between the onset of BPPV and the final diagnosis compared to the control group. No difference between the two groups was found regarding sex, recurrence rate and the presence of migraine headache. The parameters most involved as potential precipitants of PPPD after BPPV were the age of the patients and a long latency between the onset of BPPV and the final diagnosis; the mean age of the subjects who developed PPPD following BPPV was significantly higher. These findings lead us to emphasize the importance of the early identification and treatment of BPPV, especially in older patients.

The Relationship Between Nutritional Statuses and Stress Levels on The Menstrual Cycle in Adolescent Woman at SMAN 3 Sidoarjo

Psychological factors, hormonal disorders, genetics, organic disorders and nutritional status. Nutritional status is a very influential factor in a woman's menstrual cycle. Inadequate nutritional intake causes menstrual irregularities in most adolescent girls. In addition, the stress level factor is the cause of menstrual disorders. Excessive secretion of stress hormones can damage cells, tissues, and other organs. One of the most visible effects of stress is menstrual cycle irregularities in adolescent girls. Prove the relationship between nutritional status and stress levels on the menstrual cycle in adolescent girls at SMA Negeri 3 Sidoarjo. Type of survey analytical research with a cross sectional approach using Propotional Random Sampling sampling techniques with inclusion criteria, a total of 88 respondents with a division of 28 respondents from X grade, 29 respondents in class XI and 31 respondents in class XII. The analysis used to assess variables is the chi square and logistic regression statistical test.In this study, an SPSS statistical test using chi square obtained the results of the correlation analysis of the relationship between nutritional status and the menstrual cycle obtained ρ < α results (0.000 < 0.05), while the correlation of the relationship between stress levels and menstrual cycles obtained ρ < α results (0.002 < 0.05), so it means that H1 accepted means that there is a significant relationship between nutritional status and stress levels with the menstrual cycle of adolescent girls in SMA 3 Sidoarjo.

Psychological features of emotional disorders in military personnel after mine-explosion injury during their medical-psychological rehabilitation

Research in the field of psychology of emotional disorders in military personnel with mine-explosion injuries intersects various disciplines such as psychology, medicine, military science, sociology, rehabilitation, etc. Unfortunately, there is currently no unified system, technology, and methodology for comprehensive medical-psychological rehabilitation of combatants, as preference is given to individual types – social, psychological, medical, physical, pedagogical, and the rehabilitation measures themselves have a fragmented nature. Therefore, the question arises about the justification of the effectiveness and measures of medical-psychological rehabilitation for military personnel who have participated in combat operations. The study involved 99 individuals – male military personnel aged 18 to 61 years, undergoing treatment and recovery in a medical institution.
 For the statistical analysis of the research results, factor, cluster analysis, and analysis of variance (ANOVA) were conducted.
 Based on the research results, three clusters were identified, differing in the average level of intelligence and characteristic diagnoses. It was found that individuals with higher intelligence more often experience adaptation disorders (33%), those with average intelligence – PTSD (27%), and those with low intelligence – organic emotional disorders (66%).
 The strongest correlation between verbal intelligence and the following personality profile scales was found: schizoid (-0.445, p≤0.01), psychasthenia (-0.436, p≤0.01), paranoia (-0.379, p≤0.01), depression (-0.371, p≤0.01), hysteria (-0.350, p≤0.01), psychopathy (-0.322, p≤0.01), hypomania (-0.251*), and hypochondria (-0.200, p≤0.05).
 The research results allow for the development of specific recommendations regarding psychological support and medical-psychological rehabilitation for military personnel who have experienced Mine-Explosion Trauma (MET). The obtained data can be utilized to enhance psychological training programs for military personnel in the event of possible traumatic situations, helping them better cope with emotional difficulties.

Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report

BackgroundInborn errors of metabolism (IEMs) frequently result in progressive and irreversible clinical consequences if not be diagnosed or treated timely. The tandem mass spectrometry (MS/MS)-based newborn screening (NBS) facilitates early diagnosis and treatment of IEMs. The aim of this study was to determine the characteristics of IEMs and the successful deployment and application of MS/MS screening over a 19-year time period in Shanghai, China, to inform national NBS policy. MethodsThe amino acids and acylcarnitines in dried blood spots from 1,176,073 newborns were assessed for IEMs by MS/MS. The diagnosis of IEMs was made through a comprehensive consideration of clinical features, biochemical performance and genetic testing results. The levels of MS/MS testing parameters were compared between various IEM subtypes and genotypes. ResultsA total of 392 newborns were diagnosed with IEMs from January 2003 to June 2022. There were 196 newborns with amino acid disorders (50.00%, 1: 5910), 115 newborns with organic acid disorders (29.59%, 1: 10,139), and 81 newborns with fatty acid oxidation disorders (20.41%; 1:14,701). Phenylalanine hydroxylase deficiency, methylmalonic acidemia and primary carnitine deficiency were the three most common disorders. Some hotspot variations in eight IEM genes (PAH, SLC22A5, MMACHC, MMUT, MAT1A, MCCC2, ACADM, ACAD8), 35 novel variants and some genotype-biochemical phenotype associations were identified. ConclusionsA total of 28 types of IEMs were identified, with an overall incidence of 1: 3000 in Shanghai, China. Our study offered clinical guidance for the implementation of MS/MS-based NBS and genetic counseling for IEMs in this city.