Clementsmaclean5317

Spinal muscular atrophy and muscular dystrophy Duchenne belong to the group of rare neuromuscular diseases manifesting in early childhood. Therapeutic options for some of these rare monogenic diseases have changed significantly in recent years. Molecular therapies such as direct gene transfer or alternative processing of the disease-specific gene play an important role in this transformation.In particular, the course of 5q-associated spinal muscle atrophy has changed significantly due to the availability of such causal therapies, while the results of ongoing studies are still pending for most muscle diseases. see more In the area of neuromuscular diseases, an achievable therapeutic goal is to slow the progression, but not complete healing. Currently, only limited data are available. In particular, the long-term effectiveness and the possible risks are still unknown. Therefore, these therapies should be used under strictly monitored conditions.The prevalence of inflammatory bowel diseases (IBD) in children is rising. These complex diseases typically take an unpredictable course with disease flares. This review serves to illustrate the psychosocial consequences and risks of inflammatory bowel diseases in children and adolescents against the background of the essential medical aspects.Pediatric gastroenterologists should perform diagnostic procedures and medical care. Central elements of diagnostic workup include upper and lower endoscopy with multiple biopsies and imaging procedures. Therapeutic options comprise immunomodulating and immunosuppressive agents, nutrition therapy and surgical interventions. With its various symptoms, complications, diagnostic procedures, and therapies, including side effect concerns, the disease is challenging for young patients and their families. Quality of life, social life, and education may be impaired. There is also an increased risk for mental-health problems. An interdisciplinary approach with the involvement of various healthcare professions such as medical doctors, psychologists, social workers, dieticians, and nurses is necessary to satisfy the needs of children and adolescents with these complex medical conditions and their families.For many inborn metabolic diseases, a lifelong diet is a crucial part of the therapy since pharmacological therapy is available for only a few conditions and patients. The implementation of a low natural protein diet with a reduced intake of natural protein and the complementary use of synthetic amino acid mixtures is described using the examples of phenylketonuria and urea cycle disorders focusing on children and adolescents. For phenylketonuria, the amino acid supplement is free of phenylalanine whereas for urea cycle disorders, it exclusively consists of essential amino acids. The dietary treatment aims to maintain metabolic stability and to prevent accumulation of toxic metabolites. At the same time, the nutritional requirements to ensure growth and development must be met. Therefore, patients need to follow strict rules regarding the choice of food products. This restrictive therapy interferes with the desire for autonomy and the joy of eating and often results in a reduced quality of life.Following the diet is crucial for a favorable outcome. To meet its requirements, patients and their families are provided with training. It is a great challenge not only to support the patients and their families in all practical aspects of dietary management, but also to motivate them to lifelong adherence in order to ensure the best possible outcome.Aim The impacts of the introduction of antipsychotics on psychiatric care in a clinic were investigated for the first time, specifically in the Neurological and Psychiatric Clinic of the University of Leipzig from 1946 to 1965. Research questions When and which antipsychotics were first used, to what extent and how did this affect the use of traditional forms of therapy? Material and methods According to psychopathological criteria, 306 cases were selected from the database of patient records from the hospital archive and systematically reviewed with respect to the research question. Results The use of antipsychotics began in 1953 and subsequently with increasing frequency and duration. Traditional therapies and antipsychotics were frequently used in combination. In particular, the use of antipsychotics and electroconvulsive therapy represented the new basic therapy. A decrease in the length of hospitalization could not be demonstrated. From 1955, however, fewer transfers to the provincial hospitals were necessary and more patients could be discharged into domestic life as "improved". Beginning in 1961, for the first time a discharge medication was mentioned and evidence of outpatient therapies including electric shock therapies were recorded. Conclusion Evidence of facilitation of mental rehabilitation through the use of antipsychotics cannot be directly confirmed; however, it appears that the administration beyond a time-limited treatment has contributed to this development and also to the establishment of outpatient facilities. Thus, both a watershed in the psychiatric treatment and a change for the patients themselves could be identified.Personality disorders (PD) occur frequently and show high remission rates in the long term, while psychosocial recovery remains unsuccessful in a substantial proportion of cases. In ICD-11 the traditional view that PDs have a high stability is abandoned. Instead, the minimum duration is 2 years. The diagnostic process differentiates between three degrees of severity (mild, moderate, severe) and five prominent personality trait domains. Optionally, a borderline qualifying factor can be additionally codified. There is sufficient empirical evidence only for the treatment of borderline PD (BPD). Disorder-specific psychotherapy, in particular dialectic behavioral therapy (DBT) and mentalization-based therapy (MBT) have proven to be effective. Therapy modules targeting functional impairments and prominent personality trait domains could close the existing gaps in the disorder-specific treatment of PD.Introduction Diabetic macular edema (DME) threatens daily life activities such as reading and driving and reduces the patients' quality-of-life. Recently, anti-vascular endothelial growth factor (VEGF) agents have become a first-line therapy in DME. However, therapy with anti-VEGF agents has several problems repeated invasive injections are required; medical costs are high; and a certain proportion of patients with DME are resistant to treatment with anti-VEGF agents. While sodium-glucose co-transporter 2 (SGLT2) inhibitors have been widely used for the treatment of type 2 diabetes mellitus (T2DM), the effects of a combination therapy with anti-VEGF agent and SGLT2 inhibitor on DME are not yet known. Methods This study enrolls subjects with T2DM and DME, randomizes them into either a study agent treatment group (treated with ranibizumab as anti-VEGF agent and luseogliflozin as SGLT2 inhibitor) or a control group (treated with ranibizumab and glimepiride), and observes the subjects for 52 weeks after initiation of treatment.