Heterogeneous disorder

BACKGROUND: The evidence in the effectiveness of deep brain stimulation in children with medication-refractory non-degenerative monogenic dystonia is heterogeneous and long-term results are sparse. OBJECTIVES: The objective is to describe long-term outcomes in a single-center cohort and compare our results with a meta-analysis cohort form literature. METHODS: We performed a retrospective single-center cohort study including consecutive pediatric patients with non-degenerative genetic or idiopathic dystonia treated with globus pallidus internus deep brain stimulation at our center and a systematic review and individual-patient data meta-analysis with the same inclusion criteria...

OBJECTIVES: Gastroesophageal reflux disease (GERD) and sleep problems are highly prevalent among the general population. Both them are associated with a variety of psychiatric disorders such as depression and anxiety, which is highlighting an underexplored connection between them. This meta-analysis aims to explore the association between sleep problems and GERD. METHODS: We conducted a comprehensive search on PubMed, Cochrane Library, Embase, and Web of Science, using Medical Subject Headings (MeSH) and keywords, covering articles from the inception of the databases until August 2023...

BACKGROUND AND OBJECTIVE: Polycystic ovary syndrome (PCOS) is a complex hormonal disorder that leads to ovarian cysts, irregular ovulation, and hormonal swings in women. It is a complex and heterogeneous condition that affects 4 to 20% of women of reproductive age worldwide and relates to reproductive, metabolic, and psychosocial dysfunction. Dietary and lifestyle modifications have been proposed to play a central role in the management of PCOS. This study aimed to provide a comprehensive systemic overview of the existing literature on the effects of intermittent fasting (IF) and calorie restriction (CR) regimens on disease markers of PCOS...

Collapsing focal segmental glomerulosclerosis (FSGS) a heterogeneous group of disorders, rather than a single disease entity. Kidney biopsy shows segmental or globally collapsed, sclerotic glomerular capillaries. There is also hypertrophy and hyperplasia of overlying glomerular epithelial cells. Immuno-fluorescence is negative or has non-specific deposits of immunoglobulins and C3. We present two cases of C3 dominant collapsing FSGS. Both the cases were non-responsive to therapy and had a poor outcome. This calls for research to study the role of the complement pathway in the pathogenesis of FSGS...

BACKGROUND AND OBJECTIVES: Neurocognitive deficits in bipolar disorder (BD) have a negative impact on the quality of life, even during the euthymic phase. And many studies conducted to improve cognitive deficits in bipolar disorder. This systematic review aims to summarize studies on cognitive rehabilitation (CR) conducted in bipolar patients and evaluate its impact on neurocognitive deficits. The primary objective is to explore how CR interventions can enhance cognitive functioning, treatment outcomes, and overall quality of life in this population...

UNLABELLED: Major depressive disorder (MDD) is a common and often severe condition that profoundly diminishes quality of life for individuals across ages and demographic groups. Unfortunately, current antidepressant and psychotherapeutic treatments exhibit limited efficacy and unsatisfactory response rates in a substantial number of patients. The development of effective therapies for MDD is hindered by the insufficiently understood heterogeneity within the disorder and its elusive underlying mechanisms...

PURPOSE: Among men, violence is pervasive and associated with poor mental health, but little is known about which men are most vulnerable. Our purpose is to address this gap by exploring mental health and social determinants of health (SDOH) including gender role conflict (GRC) in heterogenous groups of men with distinct patterns of cumulative lifetime violence (CLV) as target and perpetrator. METHODS: Latent class analysis was conducted using means of 64 indicators of CLV severity collected from a community sample of 685 eastern Canadian men, ages 19 to 65 years...

BACKGROUND: The dentate nuclei of the cerebellum are key sites of neuropathology in Friedreich ataxia (FRDA). Reduced dentate nucleus volume and increased mean magnetic susceptibility, a proxy of iron concentration, have been reported by magnetic resonance imaging studies in people with FRDA. Here, we investigate whether these changes are regionally heterogeneous. METHODS: Quantitative susceptibility mapping data were acquired from 49 people with FRDA and 46 healthy controls...

Heavy substance use (SU) and substance use disorders (SUD) have complex etiologies and often severe consequences. Certain personality traits have been associated with an increased risk for SU(D), but far less is known about personality changes related to SU(D). This review aims to synthesize the existing literature on this research question. A systematic literature search was conducted from November 2022 to February 2023 in PubMed, EbscoHost, and Web of Science. Peer-reviewed original papers on SU(D)-related personality changes were included...

OBJECTIVE: Mealtimes are a period of heightened distress for individuals with eating disorders. Patients frequently display maladaptive coping strategies, such as hiding food and using distraction techniques to avoid eating. The aim of this systematic review is to evaluate the evidence for meal support interventions as a first-line intervention for eating disorders. METHOD: Six databases were systematically searched in January 2024. Papers including patients with an eating disorder, and meal support or meal supervision, were examined...

Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and susceptibility to malignancies. According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, SH2DIA, XIAP, CD27 (TNFRSF7), FAS (TNFRSF6), FASLG (TNFSF6), CASP10, CASP8, FADD, LRBA, STAT3, AIRE, ITCH, ZAP70, TPP2, JAK1, PEPD, FOXP3, IL2RA, CTLA4, BACH2, IL2RB, DEF6, FERMT1, IL10, IL10RA, IL10RB, NFAT5, TGFB1, and RIPK1 genes...

Premature ovarian insufficiency (POI) is a rare condition characterized by loss of ovarian function before the age of 40. POI seems associated with mood disorders and sexual dysfunction. However, there is a lack of high-quality evidence relating to the impact of POI on sexual function. Therefore, we conducted a systematic review and meta-analysis to evaluate sexual function in women with POI compared to women without the condition. The following online databases were systematically searched up to January 2023: EMBASE, Medline (Ovid), Web of Science, Cochrane, PsychInfo, and Google Scholar...

Globally, 75% of depressive, bipolar, and psychotic disorders emerge by age 25 years. However, these disorders are often preceded by non-specific symptoms or attenuated clinical syndromes. Difficulties in determining optimal treatment interventions for these emerging mental disorders, and uncertainties about accounting for co-occurring psychopathology and illness trajectories, have led many youth mental health services to adopt transdiagnostic clinical staging frameworks. In this Health Policy paper, an international working group highlights ongoing challenges in applying transdiagnostic staging frameworks in clinical research and practice, and proposes refinements to the transdiagnostic model to enhance its reliability, consistent recording, and clinical utility...

Lupus erythematosus (LE) is a heterogeneous, antibody-mediated autoimmune disease. Isolate discoid LE (IDLE) and systematic LE (SLE) are traditionally regarded as the two ends of the spectrum, ranging from skin-limited damage to life-threatening multi-organ involvement. Both belong to LE, but IDLE and SLE differ in appearance of skin lesions, autoantibody panels, pathological changes, treatments, and immunopathogenesis. Is discoid lupus truly a form of LE or is it a completely separate entity? This question has not been fully elucidated...

Multiple Myeloma (MM) is characterized by a huge heterogeneity at the molecular level. The RAS/RAF pathway is the most frequently mutated, in about 50% of the patients. However, these mutations are frequently subclonal, suggesting a secondary event. Since these genes are part of our routine next-generation sequencing (NGS) panel, we analyzed >10,000 patients with different plasma cell disorders in order to describe the RAS/RAF landscape. In this large cohort of patients, almost 61% of the patients presented a RAS/RAF mutation at diagnosis or relapse, but much lower frequencies in pre-symptomatic cases...

Residue-level coarse-grained (CG) molecular dynamics (MD) simulation is widely used to investigate slow biological processes that involve multiple proteins, nucleic acids, and their complexes. Biomolecules in a large simulation system are distributed non-uniformly, limiting computational efficiency with conventional methods. Here, we develop a hierarchical domain decomposition scheme with dynamic load balancing for heterogeneous biomolecular systems to keep computational efficiency even after drastic changes in particle distribution...

BACKGROUND: Temporomandibular disorder (TMD) is a grouping of heterogeneous disorders with multifactorial origins. Stabilization splints (SS) have demonstrated an acceptable treatment effect in TMD. The possible changes at the skeletal, dental, and soft tissue levels need to be addressed to evaluate the benefit/risk ratio of this therapeutic procedure. Accordingly, this study aimed to three‑dimensionally evaluate skeletal, dentoalveolar and soft tissue changes after SS treatment for patients with TMD...

INTRODUCTION: For many women, menopause transition can be a period of emotional and physical changes, with different menopausal stages associated with varied risk for depressive symptoms and diagnosis. This review aimed to conduct a systematic review and meta-analyses to provide an estimate for the risk of developing a) clinical depression and b) depressive symptoms at different menopausal stages. METHODS: We searched Medline, PsycInfo, Embase and Web of Science from inception to July 2023...

BACKGROUND: During the ongoing opioid epidemic, some Opioid Treatment Programs (OTPs) are unable to admit program applicants in a timely fashion. Interim methadone (IM) treatment (without routine counseling) is an effective approach to overcome this challenge when counseling capacity is inadequate to permit admissions within 14 days of request. It requires both federal and state approval and has been rarely utilized since its incorporation into the federal OTP regulations in 1993...

INTRODUCTION: Obstructive sleep apnea (OSA) is a chronic disease with a high populational prevalence that is characterized as airway closure during sleep. Treatment is multidisciplinary and varies according to each case. Continuous positive airway pressure (CPAP), oral appliances, and surgery are the primary therapeutic options. Non-invasive conservative treatments such as sleep hygiene, positional therapy, physical exercises, and weight loss aim to reduce the worsening of the disease while being complementary to the invasive primary treatment...