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.
Some studies suggest that people with haemophilia (PwH) who use prophylaxis value low frequency of clotting factor administration more than a lower risk of bleeding. However, more frequent infusions offer the potential of reducing joint disease and pain, which in turn may improve functioning and quality of life.
To explore the impact on health-related quality of life (HRQoL) aspects of haemophilia associated with adherence and annual infusion rate in the context of factors influencing treatment that are important to patients, including prophylaxis, chronic pain, concomitant conditions and hospital admission.
Materials and methods
HRQoL was assessed in participants with severe haemophilia in the ‘Cost of Haemophilia in Europe: a Socioeconomic Survey’ (CHESS) study who were using prophylaxis. Patients using on-demand treatment were excluded. This multivariate analysis examined the interaction between factors potentially influencing treatment and HRQoL, and minor and major bleeds.
From the total CHESS population (n=1,285), 338 (26%) participants provided responses for major and minor bleeds and target joints, and 145 (11%) provided EQ-5D-3L responses. Major and minor bleeds were associated with pain. Patients with severe chronic pain reported a substantial negative impact on HRQoL; but this was significantly improved by increases in the annual infusion rate. This was not apparent in participants with mild or moderate pain.
Increasing the frequency of prophylaxis infusions is associated with improved quality of life in PwH who have severe chronic pain. However, increasing the number of infusions per week in those with mild or moderate chronic pain with the intention of improving prophylactic effect may not have the same effect.
A growing body of evidence supports the recommendation of both physiotherapy and physical activity in people with haemophilia. Physical benefits include increasing strength and flexibility and reducing the risks of osteoporosis, arthropathy, and intramuscular and joint bleeds; social benefits have also been observed. However, anecdotal evidence suggests that people with haemophilia may still be averse to engaging with physical activity due to fears of causing bleeding, joint pain and joint damage.
Qualitative interviews were conducted with young men with haemophilia treated at comprehensive care centres in London, to explore and identify the reasons behind risk-averse behaviours towards exercise and physical activity. The interview questions were designed to prompt discussion and capture opinions relating to participants’ physical activity and gym membership/use, and the degree to which their haemophilia impacts on both.
Ten participants were interviewed. Preferred activities were variable, with five participants describing themselves as very physically active, three moderately active, and two reporting little physical activity; four described themselves as ‘not gym-confident’. Seven participants described themselves as highly or moderately motivated to undertake physical activity, with motivations including weight loss and getting fit for summer holidays. However, there was some anxiety around weight-bearing exercise due to the fear of pain or injury. All participants had been exposed to personal trainers (PTs) and recognised the importance of being properly introduced to training equipment but felt that PTs were too expensive for them. The majority of participants reported sports-related injuries and self-perceived limitations on activity due to their personal/individual experience of living with haemophlia. Physiotherapists were often the first point of contact for advice and support on safe physical activity. All participants recognised the benefits of physical activity and had been encouraged in this by their physiotherapists.
Young men with haemophilia are keen to use the gym as part of their personal fitness regimens. The ongoing safety concerns of health care professionals warrants further research.
Adherence to treatment recommendations in patients with chronic disease is complex and is influenced by numerous factors. Haemophilia is a chronic disease with reported levels of adherence ranging from 17–82%.
Based on the theoretical foundation of the World Health Organization Multidimensional Adherence Model, the objective of this study was to identify the best combination of the variables infusion frequency, annualised bleed rate, age, distance to haemophilia treatment centre (HTC) and Haemophilia Joint Health Score (HJHS), to predict adherence to treatment recommendations in patients with haemophilia A and B on home infusion prophylaxis in Canada.
A one-year retrospective cohort study investigated adherence to treatment recommendations using two measures: 1) subjective report via home infusion diaries, and 2) objective report of inventory ordered from Canadian Blood Services. Stepwise regression was performed for both measures.
Eighty-seven patients with haemophilia A and B, median age 21 years, were included. Adherence for both measures was 81% and 93% respectively. The sample consisted largely of patients performing an infusion frequency of every other day (34%). Median scores on the HJHS was 10.5; annualised bleed rate was two. Distance to the HTC was 51km. Analysis of the objective measure weakly supported greater infusion frequency as a treatment-related factor for the prediction of lower adherence, however the strength of this relationship was not clinically relevant (R2=0.048). For the subjective measure, none of the explanatory variables were significant.
Adherence is a multifaceted construct. Despite the use of theory, most of the variance in adherence to treatment recommendations in this sample of patients with haemophilia remains unknown. Further research on other potential predictors of adherence, and possible variables and relationships within factors of the MAM is required.
Haemophilia is a rare hereditary haemorrhagic disease caused by coagulation factor VIII (haemophilia A) or IX (haemophilia B) deficiency. Very few data exist on this disease in Congo. This survey aims to describe the epidemiological and clinical aspects of the children affected.
Materials and methods
A descriptive cross-sectional study was carried out in the haematology department of the Brazzaville University Hospital over a period of two years. Children (under 18 years of age) with haemophilia and with a factor VIII or IX level less than or equal to 30% were identified. The parameters analysed included age, diagnostic delay, type and severity of haemophilia, type and frequency of bleeding manifestations, complications and history of transfusion.
Nineteen patients were identified with an average age at diagnosis of four years. The average time to diagnosis was six years, and the most frequent first known bleeding episode was haemorrhage during circumcision. Family history was found in 14 cases. There were 13 cases of haemophilia A and six cases of haemophilia B. Fourteen cases were severe haemophilia; no mild cases were identified. Haemorrhagic manifestations included haemarthrosis, haematomas and mucocutaneous haemorrhages. The average number of haemorrhagic episodes per year was 12. Haemophilic arthropathy was present at diagnosis in seven cases, with the main location being the knee. The average number of hospitalisations before diagnosis was two. Sixteen patients had been transfused at least once.
Although circumcision is the most frequent first known haemorrhagic manifestation of haemophilia in Congo, patients are often diagnosed late, sometimes with severe osteoarticular complications. Further measures are needed to help ensure early diagnosis and improve care.