Mental Abnormalities Research Articles

Safety of double and a half layered esophagojejunal anastomosis in radical gastrectomy: A prospective, multi-center, single arm trial

Safety of double and a half layered esophagojejunal anastomosis in radical gastrectomy: A prospective, multi-center, single arm trial

Interictal Dysphoric Disorder in Epilepsy and Its Relationship with Specific Clinical and Demographic Variables.

Patients with epilepsy present a variety of psychiatric comorbidities, with mood disorders and anxiety disorders as well as interictal dysphoric disorder as the most frequent and often associated with comorbid mental conditions. Interictal dysphoric disorderand ictal and peri-ictal changes may contribute to overall clinical symptomatology in epilepsy, as well as subjective and objective adverse effects of anti-epileptic drugs. We performed a post-hoc analysis to verify the relation of interictal dysphoric disorder with specific clinical and demographic variables in people with epilepsy, including the correlation between interictal dysphoric disorder and anti-epileptic drugs. We found no correlation between the incidence of interictal dysphoric disorder and drug-resistant epilepsy, and no correlation between the incidence of interictal dysphoric disorder and sex was observed. The results of our analysis indicate that patients with interictal dysphoric disorder, compared with those with no interictal dysphoric disorder, had epilepsy onset at a later age, had had a history of psychiatric treatment and had distinctly lower, but not statistically significant, percentage of active employment status. Another finding was the frequent suicide attempts in people with epilepsy (11.5%). However, there was no relationship with interictal dysphoric disorder. We also did not find any evidence supporting the impact of epileptic medication on the incidence of interictal dysphoric disorder nor did the data contribute to support the evidence of interictal dysphoric disorder as a standing-alone phenomenon. An essential issue in epilepsy is awareness and understanding of interictal dysphoric disorder and concomitant mental health abnormalities as this is crucial for clinical practice and may significantly determine the progression and management of epilepsy if it remains ignored, and hence lead to a severe decline in life quality.

Elevated EEG heartbeat-evoked potentials in adolescents with more ADHD symptoms

IntroductionSymptoms of attention deficit hyperactivity disorder (ADHD) are associated with a variety of mental abnormalities, but little is known about the perception and processing of internal signals, i.e., interoception, in individuals with ADHD symptoms. This study aimed to investigate the association between ADHD symptoms and the heartbeat-evoked potential (HEP), known as a neural correlate of automatic interoceptive processing of cardiac signals, in adolescents. MethodsHEPs of 47 healthy adolescent participants (53.2 % female) with a mean age of 14.29 years were measured during an emotional face recognition task. In addition, participants completed a self-report screening for ADHD symptoms. ResultsADHD symptoms were positively related to the HEP activity during the task in three of eight EEG sectors in the left hemisphere, as well as in all sectors in the right hemisphere. DiscussionThis study is the first to demonstrate preliminary a relationship between the strength of HEP activity and ADHD symptoms in awake subjects. This finding of higher HEP amplitudes in subjects with more ADHD symptoms can be interpreted in terms of (i) increased arousal, (ii) altered neural processing of internal processes in an emotion-relevant task, and (iii) a misaligned precision-weighting process of task-irrelevant stimuli according to the predictive coding framework. These different interpretations could be reflected by previous studies showing heterogeneity of psychological deficits in individuals with ADHD symptoms. However, the generalizability to patients with diagnosed ADHD is limited due to the measurement tool for ADHD symptoms and the sample characteristics.

Psychosomatic aspects in otorhinolaryngology-historical milestones

This investigation examined the development of psychosomatics in the field of otolaryngology in Germany using the examples of psychogenic deafness and chronic tinnitus by means of literature research. The focus of the study was on the period 1948-2022. Aliterature search was carried out in the PubMed database from 1948 and antiquarian ENT textbooks were evaluated. The search terms used were "ENT and psychosomatics," "tinnitus," "retraining therapy," "analytical psychology," "behavioral therapy," and "sensory systems." Psychosomatic phenomena were mentioned in the treatment of nasal diseases and ear ailments in writings of Byzantine and medieval medicine. Even older are references to tinnitus in ancient Egyptian and Indian scripts. From the nineteenth to the mid-twentieth century, psychological abnormalities in ENT symptoms were assigned to the term hysteria. From the middle of the twentieth century, aparadigm shift in the assessment of psychosomatic disorders in otolaryngology became apparent. In the 1950s, abroad psychosomatic discussion was opened in individual lectures and book contributions on mental abnormalities in ENT diseases. With the implementation of the Psychosomatics Working Group of the German Society of Otorhinolaryngology, Head and Neck Surgery, psychosomatics in the field of ENT received the framework for scientific and clinical activity at the turn of the millennium. Psychosomatics is scientifically represented and part of the continuing education regulations for otolaryngology in Germany and at European level. It shows high standards in research, qualification of otolaryngologists, and patient care. As of 2022, psychosomatics in otolaryngology has been steadily developing for over 70years. The standards achieved are to be further expanded and research on cognition, affectivity, and sensory analogies intensified.

Behavioral changes of food allergic model mice during light and dark period

Although an animal model of food allergy has been used to investigate its progression mechanism, most researcher could not assess its symptoms for long especially under dark environment. We assessed the behavioral changes of food allergic mice using an image analysis system to track a mouse under both light and dark environments. Mice were sensitized with intraperitoneal ovalbumin (OVA) injections and challenged ten times with oral OVA administration. The OVA challenges induced weight loss and diarrhea. We assessed their behavior and found that the OVA challenges decreased their total moving distance during the dark period. We also revealed that the OVA challenges increased the inactive time of mice during the dark period. Interestingly, these changes were not observed or very small during the light period. We next assessed the location of mice in the home-cage and found that the OVA challenges increased the time when mice stayed at corners and decreased the time at the center during the dark period. These observations suggest mental abnormality of mice. Indeed, the OVA challenges increased the immobility time of mice in the tail suspension test. Thus, food allergic mice exhibited reduced activity and might exhibit psychological symptoms during dark period.

Prevalence Allusions of Albright’s Hereditary Osteodystrophy Syndrome in South Asia

Albright's Hereditary Osteodystrophy (AHO) is a rare, complex genetic metabolic disorder that was first delineated by American endocrinologist Fuller Albright in 1942. This syndrome is characterized by physical features such as short stature, abnormal finger and toe bones, skin ossification, obesity, rounded facial appearance, flat nasal bridge, and in some cases, developmental and mental abnormalities. AHO is classified as a subtype of pseudohypoparathyroidism type 1A due to its association with resistance to parathyroid hormone. When AHO is inherited from parents, it leads to the development of the syndrome without hormonal issues, resulting in a condition known as Pseudo-Pseudo Hypoparathyroidism (PPHP). PPHP is inherited in an autosomal dominant manner, caused by a mutation in the GNAS gene. This gene is responsible for producing a subunit of a protein called a G protein, which regulates the activity and production of specific hormones, including parathyroid hormone. Globally, AHO is considered a rare syndrome, with a prevalence of 0.7 in 100 individuals. It is further classified into subtypes 1a, 1b, 1c, and 2 based on different phenotypes and underlying mechanisms. However, the purpose of this study is to investigate the rarity of the syndrome in the Asian subcontinent, specifically examining its prevalence, recent trends, and awareness within the selected demographic population. A survey-based approach was employed to gather data from several Asian countries. The findings of this study revealed significant variations in terms of gender distribution, family history, associated complications, Gs alpha subunit deficiency, and the age at which individuals are diagnosed with the syndrome. These variations underscore the need for a versatile approach to accurately diagnose and promptly treat individuals at risk of or already affected by the syndrome.

Legality of the use of coercive measures of a medical nature against subjects with mental abnormalities (based on national and international judicial practice)

Often, criminal offenses are committed by persons with mental abnormalities, who are recognized as mostly limited in their judgment. According to the court’s decision, coercive measures of a medical nature may be applied to such persons. Within the framework of the application of criminal-legal coercive measures of a medical nature to subjects who have committed a criminal offense, the question of the legality of their application arises. The purpose of this study is to determine the legality of applying criminal and coercive measures of a medical nature to persons with mental abnormalities who have committed a criminal offense. It was established that the application of measures of a medical nature to persons of limited sentencing with mental abnormalities, if they were justified by a court decision, does not violate the provisions of clause «e» of Article 5 of the Convention. Taking into account the content of the decisions of domestic courts and the ECtHR regarding the application of coercive measures of a medical nature, we suggest that the following grounds for their application be enshrined at the legislative level: the recognition of a person with limited cognizance due to the presence of a mental abnormality must be based on the conclusions of an objective, impartial medical forensic psychiatric examination; the type and degree of mental disorder (abnormality) in the subject who committed a criminal offense must be recognized as requiring the application of a specific measure of a medical nature in a compulsory manner; the application of medical measures to the subject of a criminal offense who has beenfound to have a mental abnormality cannot continue after the recovery of the person, even if the term of their application, determined by the court, has not yet expired – for this, the possibility of early termination of their application must be established in in the event that such a patient has recovered and no longer needs medical assistance (incriminal and criminal procedural legislation). The introduction of the specified changes will increase the effectiveness of prosecuting subjects of criminal offenses who have mental anomalies (disorders) that do not exclude criminal liability. Key words: subject of a criminal off ense, mental abnormality, mental disorder,limited sanity, sanity, lack of sanity, coercive measures of a medical nature, coercive treatment, judicial practice, court decision, resolution, human rights, legality, public danger, criminal responsibility.

PERSONS SUFFERING FROM MENTAL DISORDERS THAT DO NOT EXCLUDE SANITY, AS AN OBJECT OF FORENSIC RESEARCH

Until recently, the study of socially dangerous actions of the mentally ill and persons with mental abnormalities, in domestic studies, was the prerogative of forensic psychiatry. The common interest of lawyers and forensic psychiatrists arose mainly on the basis of the appointment and conduct of forensic psychiatric examination, establishing a kind of border between the spheres of competence. Now, interest in this problem is observed in several branches of science (in criminal law, criminology, forensic psychiatry, psychology, etc.), and at the same time, the point of view of each of them has an independent meaning for determining the normative parameters of limited sanity. At the same time, given the growing prevalence of mental pathology among criminals, there remains an urgent need to create a general theoretical concept of the influence of mental pathology on crime in general and certain types of criminal behavior. This is especially true of many important issues related to the prevention and investigation of serious crimes, mechanisms and motivation of criminal behavior, etc.

Three cases of occupational acute trimethyltin chloride poisoning

Trimethyltin chloride is a highly toxic substance, which is absorbed through respiratory tract, skin and digestive tract, with central nervous system injury as the main clinical manifestations, and can be accompanied by damage to various organs. In this paper, the treatment process of 3 patients with acute trimethyltin chloride poisoning was reviewed, and their clinical manifestations, auxiliary examination, diagnosis and treatment were analyzed. Three patients were misdiagnosed as mental abnormality, encephalitis, and hepatic encephalopathy in different hospitals in the early stage of medical treatment, suggesting that clinicians should pay attention to the occupational contact history of poisoned patients and conduct toxicant detection in time to avoid misdiagnosis and mistreatment.

Equivalent evaluation and biological ingredients of Syringa pinnatifolia against acute myocardial ischemia in mice

Ethnopharmacological relevanceThe peeled roots, stems, and twigs of Syringa pinnatifolia Hemsl., known as Shan-Chen-Xiang (SCX) in Chinese, has the traditional effects such as anti-Khii, clearing heat and relieving pain. It has been clinically applied for the treatment of heart failure and mental abnormalities, and gradually replaced agarwood in Mongolian medicine. Aim of studyThe present study aims to evaluate whether the key subfraction C (C), a half composition in mass of total ethanol extract (T) of SCX, exerts an equivalent effect against acute myocardial ischemia (AMI) compared to fraction I (I), and what was the potential pharmacologically active constituents of SCX. Materials and methodsCardiac function, serum marker enzymes, and myocardial tissue pathology of infarcted mice with ligation of the anterior descending (LAD) branch of the left coronary artery were used to evaluate the anti-AMI effect of C and its equivalent potency to that of I. LCMS-IT-TOF was used to identify the main constituents in C and C−. The new and known compounds were isolated from C by a combination of mass spectrometry and bioactivity-guided fractionation methods, and structures were elucidated by extensive spectroscopic and chemical methods, including calculated 13C NMR data, calculated electronic circular dichroism, and single-crystal X-ray crystallography. The protective effect of isolates against oxidative injury induced by H2O2 in H9c2 cells was evaluated according to a previously reported protocol. ResultsThe results of cardiac function, serum marker enzymes and myocardial tissue pathology observations (fosinopril as a positive drug) suggested that C (40 mg/kg, orally administered once a day for 7 days) possessed the anti-AMI effect and was equivalent to that of I, while C− did not show the positive effect. Then, 32 lignans were isolated from C, including the majors (8R,8′R,9S)-4,4′-dihydroxy-3,3′,9-trimethoxy-9,9′-epoxylignan (24) and (8R,8′R,9R)-4,4′-dihydroxy-3,3′,9-trimethoxy-9,9′-epoxylignan (25), which were confirmed by HPLC and LC-MS characterization. Among them, 15 ones were previously undescribed, including a pair of enantiomers (6a/6b), and 11 ones (1, 2, 6a/6b, 8, 10, 12, 16, 17, 24, and 25) exhibited protective effect against oxidative injury to H9c2 cells at different concentrations (ranged from 0.156 to 80 μM). ConclusionC (40 mg/kg) exerts cardioprotective effect in mice, which was equivalent to that of I and T. Lignans, including both representative compounds (24, 25) and other undescribed molecules with low content, significantly contribute to the anti-AMI effect of SCX. However, the anti-AMI property assessment of SCX should not exclude the contribution from the representative sesquiterpenoid ZER. Hence, the exploration of the final potential substances in SCX requires further investigation.

Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations.

Mucolipidosis type II (MLII), or I-cell disease, is a rare lysosomal storage disease (LSD) caused by variants in the GNPTAB gene. MLII patients exhibit clinical phenotypes in the prenatal or neonatal stage, such as marked dysmorphic features, cardiac involvement, respiratory symptoms, dysostosis multiplex, severe growth abnormalities, and mental and motor developmental abnormalities. The median age at diagnosis for MLII is 0.7 years, the median survival is 5.0 years, and the median age at death is 1.8 years. No cure for MLII exists. Sanger sequencing of the GNPTAB gene identified the compound heterozygous mutations c.673C > T in exon 7 and c.1090C > T in exon 9, which were novel double heterozygous mutations first reported in China. For the first time, we describe our experience in the use of HSCT for MLII. Our patient underwent HSCT with cells from a 9/10 human leukocyte antigen (HLA)-matched unrelated donor at 12 months of age. Myeloid neutrophil and platelet engraftment occurred on Days 10 and 11, respectively. The patient's limb muscle tension was significantly reduced, and his gross and fine motor skills were improved four months after transplantation. DST(Developmental Screen Test) results showed that the patient's fine motor skills and mental development were improved compared with before HSCT. MLII is a very severe lysosomal storage disease, to date, only 3 cases have been reported on the use of HSCT to treat MLII. Our data show that HSCT is a potential way to prolong the life of patients and improve their quality of life. Due to the lack of comparable data and time, the exact benefit remains unclear in MLII patients. Longer-term follow-up and in-depth prospective studies are indispensable.

Establishment of HIV-negative neurosyphilis risk score model based on logistic regression

ObjectiveTo establish the risk scoring model for HIV-negative neurosyphilis (NS) patients and to optimize the lumbar puncture strategy.MethodsFrom 2016 to 2021, clinical information on 319 syphilis patients was gathered. Multivariate logistic regression was used to examine the independent risk factors in NS patients who tested negative for human immunodeficiency virus (HIV). Receiver operating characteristic curves (ROC) were used to assess the risk scoring model’s capacity for identification. According to scoring model, the timing of lumbar puncture was suggested.ResultsThere were statistically significant differences between HIV-negative NS and non-neurosyphilis (NNS) patients in the following factors. These included age, gender, neuropsychiatric symptoms (including visual abnormalities, hearing abnormalities, memory abnormalities, mental abnormalities, paresthesia, seizures, headache, dizziness), serum toluidine red unheated serum test (TRUST), cerebrospinal fluid Treponema pallidum particle agglutination test (CSF-TPPA), cerebrospinal fluid white blood cell count (CSF-WBC), and cerebrospinal fluid protein quantification (CSF-Pro) (P < 0.05). Logistic regression analysis of HIV-negative NS patients risk factors showed that age, gender, and serum TRUST were independent risk factors for HIV-negative NS (P = 0.000). The total risk score (− 1 ~ 11 points) was obtained by adding the weight scores of each risk factor. And the predicted probability of NS in HIV-negative syphilis patients (1.6 ~ 86.6%) was calculated under the corresponding rating. ROC calculation results showed that the score had good discrimination value for HIV-negative NS and NNS: area under the curve (AUC) was 0.80, the standard error was 0.026 and 95% CI was 74.9–85.1% (P = 0.000).ConclusionThe risk scoring model in this study can classify the risk of neurosyphilis in syphilis patients, optimize the lumbar puncture strategy to a certain extent, and provide ideas for the clinical diagnosis and treatment of HIV-negative neurosyphilis.

Spinal cord injury-activated C/EBPβ-AEP axis mediates cognitive impairment through APP C586/Tau N368 fragments spreading

Spinal cord injury (SCI) leads to mental abnormalities such as dementia and depression; however, the molecular mechanism of SCI-induced dementia remains a matter of debate. Asparagine endopeptidase (AEP) mediated dementia by enhancing amyloid plaque and Tau hyperphosphorylation, indicating that it played an important role in neurodegeneration. Here we revealed that SCI stimulated AEP activation in mice with T9 contusion injury. Activated-AEP cleaved APP and Tau, resulting in APP C586 and Tau N368 formations, and consequentially accelerated Aβ deposit and Tau hyperphosphorylation, respectively. At 9 months following injury, mice demonstrated a severe deterioration in cognitive-behavioral function, which was corroborated by the presence of accumulated AD-specific pathologies. Surprisingly, activated AEP was found in the brains of mice with spinal cord injury. In contrast, AEP knockout reduced SCI-induced neuronal death and neuroinflammation, resulting in cognitive-behavioral restoration. Interestingly, compared to the full-length proteins, truncated Tau N368 and APP C586 were easier to bind to each other. These AEP-processed fragments can not only be induced to pre-formed fibrils, but also amplified their abilities of spreading and neurotoxicity in vitro. Furthermore, as a critical transcription factor of AEP, C/EBPβ was activated in injured spinal cord. Elevated C/EBPβ level, as well as microglia population and inflammatory cytokines were also noticed in the cortex and hippocampus of SCI mice. These neuroinflammation pathologies were close related to the amount of Tau N368 and APP C586 in brain. Moreover, administration with the AEP-specific inhibitor, compound #11, was shown to decelerate Aβ accumulation, tauopathy and C/EBPβ level in both spinal cord and brain of SCI mice. Thus, this study highlights the fact that spinal cord injury is a potential risk factor for dementia, as well as the possibility that C/EBPβ-AEP axis may play a role in SCI-induced cognitive impairment.

Hot topic: Examining discursive representations of menopause and work in the British media

AbstractThis study builds on Goffman's idea of stigma to examine how mainstream print media in the UK have framed menopause over the past decade, especially concerning work. We used a computational corpus‐assisted discourse analysis (CADS) approach to analyze 2993 articles on menopause. The results indicate increased attention to menopause and, more recently, to menopause and work. However, the narrative consistently foregrounds negative aspects associated with dysfunction, decline, and unpredictable behavior, especially around litigation. These discursive representations reinforce the stigma around menopause by constructing women at this stage of life as the dangerous other, affected by physical and mental abnormalities. For women not to be disadvantaged at work, menopause representations must be more balanced by including more positive stories. Our study offers insights that can be of relevance to emerging workplace policies and assist the media in communicating the issues of menopause and work. We also make a methodological contribution by taking the CADS approach to explore empirically and systematically the dominant discourses around menopause in the UK mainstream media just over the last decade.

The repetitive transcranial magnetic stimulation in Alzheimer's disease patients with behavioral and psychological symptoms of dementia: a case report

BackgroundRepetitive transcranial magnetic stimulation is a noninvasive intervention, can significantly reduce behavioral and psychological symptoms and cognitive impairment in AD patients. Only few cases have been reported the adverse reactions after the treatment. This report described the different adverse reactions after repetitive transcranial magnetic stimulation with different parameters.Patient presentationThis article reports a patient with dementia complicated with mental behavior disorder who was treated with repetitive transcranial magnetic stimulation (rTMS) in spite of poor drug response. First, 1 Hz rTMS was initiated. After 1 month, the patient showed improved symptoms of mental behavior, decreased cognitive function and prolonged sleep duration. After switched to 10 Hz rTMS, the patient’s cognitive function and mental behavior abnormalities improved, and the sleep time returned to normal. However, epilepsy occurred after one session and was changed to 0.8 Hz rTMS treatment. The patient’s symptoms improved and did not have seizure.ConclusionRepetitive transcranial magnetic stimulation has a positive effect on cognitive function and Behavioral And Psychological Symptoms Of Dementia, and adverse reactions are inevitable. Playing personalized treatment according to the patients can reduce occurrence of adverse reactions.

Saturday Night Fever: Interpersonal Violence as a Reason for Presentation in a University Emergency Department

(1) Presentations to a trauma emergency department following a violent confrontation account for a relevant proportion of the overall population. To date, violence (against women) in the domestic setting has been studied in particular. However, representative demographic and preclinical/clinical data outside of this specific subgroup on interpersonal violence are limited; (2) Patient admission records were searched for the occurrence of violent acts between 1 January and 31 December 2019. A total of 290 patients out of over 9000 patients were retrospectively included in the "violence group" (VG). A "typical" traumatologic cohort (presentation due to, among other things, sport-related trauma, falls, or traffic accidents) who had presented during the same period served as comparison group. Then, differences in the type of presentation (pedestrian, ambulance, or trauma room), time of presentation (day of week, time of day), diagnostic (imaging) and therapeutic (wound care, surgery, inpatient admission) measures performed, and discharge diagnosis were examined; (3) A large proportion of the VG were male, and half of the patients were under the influence of alcohol. Significantly more patients in the VG presented via the ambulance service or trauma room and during the weekend and the night. Computed tomography was performed significantly more often in the VG. Surgical wound care in the VG was required significantly more often, with injuries to the head being the most common; (4) The VG represents a relevant cost factor for the healthcare system. Because of the frequent head injuries with concomitant alcohol intoxication, all mental status abnormalities should be attributed to brain injury rather than alcohol intoxication until proven otherwise, to ensure the best possible clinical outcome.

Bile duct ligation increased dopamine levels in the cerebral cortex of rats partly due to induction of tyrosine hydroxylase.

Liver failure is associated with psychiatric alterations, partly resulting from the increased brain dopamine levels. We investigated the relationship between increased dopamine levels and mental abnormalities using bile duct ligation (BDL) rats and the mechanism by which liver failure increased dopamine levels in SH-SY5Y cells. Behavioural tests were carried out on day 13 and 27 following BDL, along with measurements of dopamine and metabolites, expressions of enzymes and transporters related to dopamine metabolism, and its transport into the cortex and the hippocampus. SH-SY5Y cells were used to investigate whether NH4 Cl, bile acids and bilirubin affected expression of tyrosine hydroxylase or not. Tyrosine hydroxylase (TH) expression in SH-SY5Y cells co-incubated with bilirubin and signal pathway inhibitors was measured. Open-field test results demonstrated BDL rats showed anxiety-like behaviour, accompanied by increased dopamine levels and expression of TH protein in the cortex. Membrane bound long form (MB)-COMT, slightly but significantly decreased. SH-SY5Y cells indicated that increased bilirubin levels was a factor in inducing TH expression. Both inhibitor of NF-κB pathway BAY 11-7082 and silencing NF-κB p65 reversed bilirubin-induced upregulation of TH protein. NF-κB activator TNF-α increased expression of TH protein. Roles of bilirubin in increases of TH protein expressions and dopamine levels were measured using hyperbilirubinemia rats. Anxiety-like behaviour, was associated with increased dopamine levels and TH protein expressions in hyperbilirubinemia rats. BDL significantly increased dopamine levels in rat cortex partly due to bilirubin-mediated TH induction. Increased bilirubin induced TH expression via activating NF-κB signalling pathway.

Peculiarities of the Activity of the Brain Structures of People with Schizophrenia During the Categorization of Objects of Animate and Inanimate Nature

One of the features of the work of the brain of people suffering from schizophrenia is changes in the activity of their brain during visual categorization of animate and inanimate objects. The purpose of this study was to analyze the brain activity of people with schizophrenia and their visual categorization of objects with different semantic and physical characteristics. It was assumed that the patterns of brain activity in individuals with schizophrenia would differ from the group of healthy individuals both in the early and late stages of visual processing. Using the method of visual evoked potentials, we studied the features of brain activity in 25 people suffering from schizophrenia from 1 to 7 years old, when they categorized images of animate and inanimate nature, low and high spatial frequency. It was found that the amplitudes of P170 (N170) in the left and right posterior and central leads, as well as the amplitudes of P300 in the central lead in people with schizophrenia do not differ during categorization of animate and inanimate objects, which does not correspond to the data obtained earlier from the people without mental health abnormalities. The revealed result is important for a better understanding of the restructuring of the brain during visual perception of objects of different categories, which occurs during the development of schizophrenia.

Molecular cytogenetic study of Down syndrome and it's health care experience

Down syndrome (DS) is a genetic complex condition which is collection of physical, mental and functional abnormalities that result from trisomy 21, the presence in genome of three rather than the normal two chromosome. Mouse model of DS have shown the involvement of trisomy of all or part of human chromosome 21 or orthologous mouse genomic regions and also provide valuable information into contribution of triplicated gene related to many clinical manifestations in DS. Medical advances, special educational programs, and increasing social acceptance of disabled people in the community have resulted in current trends of normalization and deinstitutionalization of these patients. In this study we performed the detailed literature searches to ameliorate molecular cytogenetic study of Down syndrome and its care.

Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays

To summarize the genetic diagnosis, low-depth copy number variation sequencing (CNV-seq) and prenatal finding in 7 fetuses with 2p16.3 deletions only involving the NRXN1 gene. The 7 fetuses have all been found to have loss of heterozygosity at 2p16.3 by CNV-seq, which were verified by quantitative real-time PCR (qPCR). Specific regions of NRXN1 gene deletions were identified, and the CNVs were verified in their parents. Outcome of the pregnancies were followed up. Among 16 502 prenatal samples, 7 fetuses were found to harbor a 120 kb ~ 900 kb microdeletion in the 2p16.3 region, which yielded a prevalence of 0.424‰. The deleted region mainly involved 50 200 000-51 880 000 positions of chromosome 2 and involved only the NRXN1 gene. All of the 7 fetal CNVs were confirmed by qPCR, including 2 cases with heterozygous deletion of exons 1 to 6, 1 with heterozygous deletion of exons 1 to 19, 1 with heterozygous deletion of exons 19 to 22, and 3 with heterozygous deletion of introns 6 to 7 of the NRXN1 gene. Verification in the parents had found that one deletion was inherited from the father, 1 was from the mother, 2 cases were de novo in origin, whilst the remaining 3 had refused parental verification. After genetic counseling, one couple had elected induced abortion, 1 case has not been born yet, whilst the other 5 cases were born healthy. Follow up had identified no mental abnormalities among the children. Seven fetuses with heterozygous 2p16.3 deletions only involving the NRXN1 gene were detected by CNV-seq. The specific deletion of the NRXN1 gene was verified by qPCR. Prenatal genetic counseling and fertility guidance has been provided to the particular family by combining the results of CNV testing, pedigree analysis and pregnancy outcome.