X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease which causes demyelination of the white matter of the brain. The symptoms include mental impairment, progressive paresis, impaired motor coordination, and epileptic seizures. Diagnosis is established mainly by genetic testing. Currently, the recommended treatment is haematopoietic stem cell transplantation (HSCT).
The aim of the study was to present the case of a patient suffering from X-ALD, who developed symptoms of bipolar disorder in the initial phase of the disease prior to the onset of characteristic neurological symptoms.
In 2015, a 33-year-old patient was admitted to a psychiatric department due to aggressive behaviour he showed towards his wife and other family members. He had been treated for a depressive episode in 2005, and for a manic episode without psychotic symptoms earlier in 2015. During the successive psychiatric hospitalizations, in addition to psychopathological symptoms, the patient had been observed to have neurological symptoms, which included progressive paraparesis and ataxia. In 2018, based on imaging and genetic tests, the patient was diagnosed with X-ALD. The patient's condition gradually deteriorated; with time, he was unable to move on his own. During a hospital stay in 2019, he was transferred to an internal medicine department due to a progressive urinary tract infection, which, however, could not be controlled, and the patient died.
X-ALD is a rare metabolic illness. In the early stages of the disease, various psychopathological symptoms, including affective disorders, are observed.
Early initiation of adequate treatment increases the chances of extending the patient's life.
In the present case, the patient did not die due to the underlying disease, but due to causes typical of bed-bound patients, i.e. complications of progressing infection.
Introduction: Cotard's syndrome (CS) is a rare set of psychopathological symptoms, the main symptom of which is nihilistic delusions concerning the negation of the existence of internal organs or the entire body
Aim, material and methodology: The aim of the study is to present a case of a patient treated for postpartum depression who developed Cotard's syndrome. The patient's symptoms began immediately after her daughter. The clinical picture was dominated by anxiety and apathy, nihilistic delusions about the atrophy of the urethra and other lower abdominal organs, and olfactory hallucinations - she could smell rot.
Discussion: The available literature on Cotard’s Syndrome does not allow us to indicate a certain reason for its development. Perhaps the birth of the first child - the woman doubted herself as a mother, she was afraid that she would hurt the cause of the disorders observed and described by us was transient ischemia of the CNS during delivery.
Conclusions: Cotard's syndrome can develop in the course of many mental and somatoform disorders. The described case is, to our knowledge, the first description of Cotard’s Syndrome in the deprivation period. Difficulties in establishing the etiopathogenesis and pathophysiology of Cotard’s Syndrome translate into therapeutic problems. It has been suggested that the treatment of the underlying disorder on the basis of which CS is developed remains the most effective method of therapy.
Introduction: Deep Brain Stimulation can directly alter brain activity in a controlled manner and the effect is reversible. The mechanism is that the electrode acts locally on neural activity, which is transferred to monosynchronous and multisynaptic network connections.
Methods: We present studies conducted on a group of patients that show an improvement in mental state after Deep Brain Stimulation.
Material: The diseases we included in our work are: Obsessive-Compulsive Disorder, Eating Disorder, Depression and Bipolar Affective Disorder.
Discussion: The use of deep brain stimulation can inhibit development of acute state of patients and improve both psychiatric features and the time of remission. The results indicate the greatest effectiveness of Deep Brain Stimulation in Obsessive-Compulsive Disorders.
Conclusions: Brain stimulation may be a promising therapeutic target in mental illness. In a properly selected location, it can contribute to a significant clinical improvement however further research in this direction is necessary.
Introduction: Dyskinesia is a symptom complex in the form of involuntary, repetitive movements of lips, lower jaw, tongue, less often the trunk and limbs. Despite the use of newer drugs in treatment neuroleptics, dyskinesia has not ceased to be a clinical problem.
Method: The work is based on a research review for which the Google Scholar database was used as well PubMed. The search range was limited to 2008-2020. We have included descriptive publications tardive dyskinesia only as a consequence of antipsychotic medications.
Material: We present the use of tetrabenazine analogues, deep brain stimulation, neuroleptics, benzodiazepines and botulinum toxin in late-suffering patients drug-induced dyskinesias, which may indicate an improvement in your health.
Discussion: The first method of treating tardive dyskinesia are withdrawal antipsychotic medications, but for many patients this is impossible. Valbenazine and Deep Brain Stimulation are the most effective in treating Tardive Dyskinesia.
Conclusions: There are not enough studies with the highest reliability to create unequivocal recommendations in the treatment of drug-induced tardive dyskinesia.
Introduction: The study aims to present 1) a case report of an 18-year-old female patient with borderline personality disorder (BPD) 2) the diagnostic and treatment difficulties in BPD patients.
Materials and methods: The review of the literature from the years 1953-2020 searched from PubMed, Google Scholar, and Web of Science databases.
Discussion: Patient, 18-years old, hospitalized five times for psychiatric care, presenting self-injurious behaviours, hurting herself within forearms. A patient attempted suicide eight times. She is living with her divorced parents. The patient’s father has a new partner with whom he has children. The patient used marijuana and she was experiencing psychotic symptoms under its influence. She smokes 10 cigarettes per day and drinks alcohol once a week since she was 16 years old. Psychiatric problems appeared when the patient started learning in high school.
1. Borderline personality disorder (BPD) is a serious psychiatric condition of a difficult diagnosis that should be differentiated with many other psychiatric disorders such as an atypical or subclinical course of psychosis, affective disorders, or dissocial personality.
2. A therapeutic process of a person with BPD is based on psychotherapy and personalized treatment strategies, whereas, pharmacological treatment plays only a supporting role during BPD treatment.
Introduction: In psychiatry and psychology stigmatization consists in labelling a person suffering from a disorder with the stigma of mental illness, associated with numerous negative stereotypes that are established in both individual and social mentality.
Objective: The aim of the present article is to present the phenomenon of self-stigma from the perspective of psychiatric patients, including patients suffering from schizophrenia, to scientific consideration.
The state of knowledge: The available data on this subject suggests that schizophrenia is particularly stigmatized, and the degree of stigmatization of patients with this diagnosis is worsening. Self-stigma plays a significant role in various areas of patients’ lives, sometimes discouraging them to continue therapy. Psychiatric patients have to face not only the symptoms of their disorders, but also stigmatization. In the event patient’s self-stigmatization of mental illness occurs, a responsible psychiatrist and psychologist conducting the therapy has the moral obligation to supervise the process of psychiatric and psychological assistance in the context of the aforelisted issues.
Conclusions: The problem of self-stigmatization of a psychiatric patients is a topical issue that is well worth further exploration in order to better understand and help patients more effectively.
Objective. Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation is essential for the clinical management of offsprings.
Case presentation. We herein describe an unusual case of ASD type II in a neonate with faltering growth as a single presenting symptom. To our knowledge, this is the first Greek case of ASD type II reported with confirmed genetic analysis. Next generation sequencing of her DNA revealed the homozygous mutation p.T185I (ACC-ATC) (c.554C>T) (g.7757C>T) in exon 3 of the CYP11B2 gene in the neonate, inherited from both parents who were heterozygotes for the mutation.
Conclusions. Physicians handling neonates with faltering growth, particularly in the initial six weeks of life, should be suspicious of mineralocorticoid insufficiency either as isolated hypoaldosteronism or in the context of congenital adrenal hyperplasia. Essential investigations should be performed and appropriate treatment should be administered promptly without awaiting for the hormonal profile results. Interpretation of the clinical picture and the hormonal profile will guide the analysis of candidate genes. Primary selective hypoaldosteronism is a rare, life threatening disease, but still with an unknown overall population impact. Thus, reporting cases with confirmed gene mutations is of major importance.
Objectives. Oxytocin (OXT) participates in various physiological functions ranging from reproduction to social and non-social behaviors. Recent studies indicate that OXT affects cell growth and metabolism. Here we characterized the growth stimulating and antioxidant actions of OXT and of OXT receptors (OXTR) in a glial cell-line (U-87MG).
Methods. We developed an OXTR-knockdown cell-line (U-87MG KD) to establish the receptor specificity of OXT’s actions, and the impact of lacking OXTR on growth and survival in glial cells. The role Extracellular-Signal Regulated Kinases (ERK1/2) on glial cell protection against consequences of oxidative stress, and cell proliferation was investigated.
Results. In U-87MG cells, OXT stimulated cell proliferation and increased ERK1/2 phosphorylation. The specific ERK1/2 inhibitor, PD098059, produced marked inhibition of cell proliferation, and antagonized the stimulating effect of OXT on ERK1/2 phosphorylation and on cell proliferation. Slower growth rates and lower levels of phosphorylated ERK1/2 were observed in OXTR-knockdown cells and in U-87MG cells treated with an OXTR antagonist (L-371,257). In addition to increasing cell proliferation, OXT significantly blunted the rise in reactive oxygen species induced by H2O2, and antagonized the reductions in cell viability induced by H2O2 and camptothecin. The cell protective and antioxidant actions of OXT in U-87MG cells were not observed in the OXTR-knockdown cells.
Conclusion. OXT stimulates the growth of astrocyte-like cells acting on OXTR via ERK1/2 phosphorylation. The protection against apoptosis and the antioxidant capacity of OXT may contribute to the observed increase in cell proliferation. Oxytocin and OXTR appear to be fundamental for cell growth and viability of glial cells.
Objective. The aim of the present study was to investigate the transcriptional activity of the GLP-1R, DPP-4, SGLT-1, INSR, and IGF-1R genes in GALT cells of rats with streptozotocin-induced diabetes in both untreated and treated with pentoxifylline, as a non-specific blocker of TNF-α.
Methods. The expression of GLP-1R, DPP-4, SGLT-1, INSR, and IGF-1R genes in GALT cells of rats was studied by real time quantitative polymerase chain reaction.
Results. It was shown that the development of diabetes was accompanied by the decrease of GLP-1R and an increase of DPP-4 genes expression in rat ileum. The administration of pentoxifyl-line to diabetic animals led to an increase in the transcriptional activity of GLP-1R on the 4th week and decrease in transcriptional activity of DPP-4 on the 2nd and 4th weeks of the experiment. An increase in the normalized expression of SGLT-1 on the 4th week of the experimental diabetes was also noted, while the administration of pentoxifylline to diabetic animals did not lead to significant changes in this index. The transcriptional activity of the INSR and IGF-1R genes was reduced in diabetic rats and the administration of the non-specific TNF-α blocker – pentoxifylline led to a significant increase only for INSR gene in animals on the 4th week of the experimental diabetes.
Conclusions. The expression of incretins, glucose transporters, and pro-inflammatory cytokines (e.g. TNF-α) in immune cells may be used as markers of several autoimmune pathologies progression such as type 1 diabetes due to their effect on the balance of pro- and anti-inflammatory factors.
Objective. The cytochrome 11B2 aldosterone synthase gene (CYP11B2) that links to aldosterone synthase enzyme synthesis changes and blood pressure regulation is of particular interest among the renin-angiotensin-aldosterone system encoding genes.
Methods. One-hundred hypertensive patients with target-organ damaging (2nd stage), moderate, high or very high cardiovascular risk were involved in the case-control study. Mean age was 59.87±8.02 years. Diabetes Mellitus type 2 (DM2) was in 28 persons. Chronic kidney disease (CKD) was diagnosed in 29 persons according to the National Kidney Foundation recommendations (2012) after glomerular filtration rate (GFR) decline <60 ml/min/1.73m2 for ≥3 months (measured by CKD-EPI equations). Aldosterone, cystatin-C, and creatinine levels were measured in serum. Control group included 48 practically healthy persons of relevant age. Gene’s nucleotide polymorphism CYP11B2 (-344C/T) was examined by polymerase chain reaction.
Results. CKD evolution in hypertensive patients followed by higher systolic and diastolic blood pressure (SBP, DBP) values increased creatinine, cystatin-C, and aldosterone serum concentrations by 28.76%, 28.41% and 29.43% (р<0.05), respectively. Polymorphic site of CYP11B2 (rs1799998) gene is associated with SBP and DBP increase (p<0.05), reduced GFR preferably calculated by CKDEPI-cystatin C (F=10.79–14.45; p<0.001) and elevated aldosterone content (F=55.84; p<0.001), creatinine and cystatin-С as well (F=4.16–5.08; p<0.05) mainly in the ТТ-genotype female carriers (p<0.001). Hypertensive women with DM2 demonstrated stronger relations of CYP11B2 gene polymorphic site with the increased aldosterone content (F=47.52; p<0.001), than women without DM2 (p<0.001) and male patients (p=0.014).
Conclusions. Genetic variations involving CYP11B2 might influence the kidney function, hypertension course, and severity via aldosterone secretion upregulation.