Similar Disorders Research Articles

Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America.

In 2020, a novel neurologic disease was observed in juvenile Quarter Horses (QHs) in North America. It was unknown if this was an aberrant manifestation of another previously described neurological disorder in foals, such as equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM). To describe the clinical findings, outcomes, and postmortem changes with Equine Juvenile Spinocerebellar Ataxia (EJSCA), differentiate the disease from other similar neurological disorders, and determine a mode of inheritance. Twelve neurologically affected QH foals and the dams. Genomic DNA was isolated and pedigrees were manually constructed. All foals (n = 12/12) had a history of acute onset of neurological deficits with no history of trauma. Neurological deficits were characterized by asymmetrical spinal ataxia, with pelvic limbs more severely affected than thoracic limbs. Clinicopathological abnormalities included high serum activity of gamma-glutamyl transferase and hyperglycemia. All foals became recumbent (median, 3 days: [0-18 days]), which necessitated humane euthanasia (n = 11/12, 92%; the remaining case was found dead). Histological evaluation at postmortem revealed dilated myelin sheaths and digestion chambers within the spinal cord, most prominently in the dorsal spinocerebellar tracts. Pedigree analysis revealed a likely autosomal recessive mode of inheritance. EJSCA is a uniformly fatal, rapidly progressive, likely autosomal recessive neurological disease of QHs <1 month of age in North America that is etiologically distinct from other clinically similar neurological disorders. Once the causative variant for EJSCA is validated, carriers can be identified through genetic testing to inform breeding decisions.

Using artificial intelligence methods to study the effectiveness of exercise in patients with ADHD.

Attention Deficit Hyperactivity Disorder (ADHD) is a prevalent neurodevelopmental disorder that significantly affects children and adults worldwide, characterized by persistent inattention, hyperactivity, and impulsivity. Current research in this field faces challenges, particularly in accurate diagnosis and effective treatment strategies. The analysis of motor information, enriched by artificial intelligence methodologies, plays a vital role in deepening our understanding and improving the management of ADHD. The integration of AI techniques, such as machine learning and data analysis, into the study of ADHD-related motor behaviors, allows for a more nuanced understanding of the disorder. This approach facilitates the identification of patterns and anomalies in motor activity that are often characteristic of ADHD, thereby contributing to more precise diagnostics and tailored treatment strategies. Our approach focuses on utilizing AI techniques to deeply analyze patients' motor information and cognitive processes, aiming to improve ADHD diagnosis and treatment strategies. On the ADHD dataset, the model significantly improved accuracy to 98.21% and recall to 93.86%, especially excelling in EEG data processing with accuracy and recall rates of 96.62 and 95.21%, respectively, demonstrating precise capturing of ADHD characteristic behaviors and physiological responses. These results not only reveal the great potential of our model in improving ADHD diagnostic accuracy and developing personalized treatment plans, but also open up new research perspectives for understanding the complex neurological logic of ADHD. In addition, our study not only suggests innovative perspectives and approaches for ADHD treatment, but also provides a solid foundation for future research exploring similar complex neurological disorders, providing valuable data and insights. This is scientifically important for improving treatment outcomes and patients' quality of life, and points the way for future-oriented medical research and clinical practice.

ОСОБЕННОСТИ КЛИНИЧЕСКИХ ПРОЯВЛЕНИЙ ПРИ МАЛЬФОРМАЦИИ КИАРИ 0, 1 И «ПОГРАНИЧНОГО» ТИПОВ

Introduction. Introduction of advanced neuroimaging methods has made it possible to identify subtle structural features of the posterior cranial fossa and craniovertebral junction, as well as the dislocation of cerebellar tonsils into the foramen magnum, which have clinically overt and subclinical forms. Aim: To study the clinical manifestation features of Chiari type 0, 1, and “borderline” malformations. Materials and Methods. For literature analysis, the sources were used from international databases, such as Web of Science, Scopus, and PubMed, and the Russian library system, eLibrary. Results and Discussion. The most common pathology of the posterior cranial fossa is Chiari type 1 malformation associated with a mesodermal defect and with discrepancies between the sizes of the posterior cranial fossa and the neural structures that fill it. To assess the Chiari malformation grade, it is advisable to specify the dislocation grades of cerebellar tonsils. There is a common classification of cerebellar tonsil dislocations, in which the dislocation grade 1 of cerebellar tonsils is characterized by the descent of cerebellar tonsils below the foramen magnum level; grade 2 is inherent in dislocation of the cerebellar tonsils down to the C2 vertebra level in combination with displacing the pons and medulla oblongata below the Twining line. Grade 3 dislocation of the cerebellar tonsils is where the cerebellum tonsil displacement is combined with intracranial hypertension. In case of the degree 4 dislocation of the cerebellar tonsils, cerebellar hypoplasia is observed, accompanied by a displacement of the medulla oblongata. The occurrence of syringomyelia in Chiari type 0 malformation is associated with liquor dynamic disorders in the craniovertebral junction region; the similar liquor circulation disorders are detected in Chiari type 1 malformation. Chiari type 1 and “borderline”- type malformations manifest as persistent cranialgia, pain in the cervical spine, otoneurologic and visual disorders, respiratory, psychological, and cognitive disorders, damage to the cerebellar and stem structures of the brain, damage to the spinal cord, and other, more rare signs of damage to the central nervous system. Conclusions. Thus, it is necessary to further study the features of developing clinical symptoms in Chiari type 1, 0, and “borderline” malformations to assess the changes in the course of the disease and select an adequate treatment strategy.

Dynamics of Structural and Functional Changes of Patients with Dry Form Age-related Macular Degeneration after Double Filtration Plasmapheresis

Actuality. One of the significant ophthalmic diseases is a dry form age-related macular degeneration (dAMD). The issues of etiology and pathogenesis are not completely cleared nowadays and they signify the subject of discussion. There are risk factors of dAMD (age, heredity, lifestyle etc.) which can cause metabolic disorders, changes hemorheological parameters which promote activation of druseogenesis and as a result an angiogenesis. Mostly an outcome of dAMD is geographical atrophy and decrease of central visual acuity. At the same time, it is known that similar metabolic and rheological disorders detected in other diseases are effectively corrected by extracorporeal rheoaferesis, in particular, using double filtration plasmapheresis. Thus, using of extracorporeal rheoaferesis with dAMD patients is pathogenetically well-reasoned, but in the available literature, a correct analysis of the effectiveness and safety of double filtration plasmapheresis in patients with intermediate stage of dAMD is presented poorly.Objective. To study along with data of OCT, OCT angiography, visometry, microperimetry and electroretinography structural and functional changes in the macular zone in patients with a dry form of age-related macular degeneration after the using of double filtration plasmapheresis.Patients and methods. The study included 63 patients (94 eyes) with an intermediate stage of dAMD. The patients were separated into two groups randomly. The first (main) group included 34 patients (52 eyes) who were performed double filtration plasmapheresis (DFPP) on an OctoNova device using a Plasmaflo plasma filter and a Cascadeflo EC40 fractionator in the amount of 4 procedures with a frequency of 1 time per week for 1 month. The second group (control) included 29 patients (42 eyes) who did not receive any specific treatment. In the main group of patients, OCT, OCT angiography, microperimetry and electroretinography were additionally performed in addition to standard ophthalmological examination before the DFPP course, after the DFPP course (1 month after the start of follow-up), 6 and 12 months later. Patients in the control group also underwent a similar examination at the specified time — 1, 6, 12 months after the start of follow-up.Results. In this study we found according to optical coherence tomography, optical coherence tomography-angiography, visometry, microperimetry and electroretinography, positive dynamics of structural and functional parameters of the macular retina is observed in patients with a dry form of age-related macular degeneration with using double filtration plasmapheresis. At the same time, a statistically significant difference between the two groups begins at 1 month and persists for 12 months of follow-up, which points to stabilization of the pathological process during the specified period.Conclusions. This study showed that after applying the double filtration plasmapheresis in patients with dry form of age-related macular degeneration, there is an improvement in structural and functional parameters of the macular zone, consisting in a decrease volume DOPES and stabilization of retinal light sensitivity.

Insights on the fungal communities associated with needle reddening of the endangered Abies nebrodensis

AbstractAbies nebrodensis is a species of fir endemic to Sicily, represented by only 30 trees in the natural population and is currently classified as critically endangered by IUCN. In such context, monitoring its health status is essential for the proper management and preservation of this species. Phytosanitary surveys of trees of the natural population of A. nebrodensis and on potted plants raised in the local forest nursery were carried out, and the phyllosphere fungal community was investigated. The health condition of trees in the natural population were fairly good, with needle reddening and blight as the most frequently observed symptoms on the foliage, while in the nursery similar disorders were registered on about the 1.3% of potted plants. Results on fungal isolations highlighted the presence of species belonging to Valsa, Cytospora (which includes anamorphs of Valsa) and Rhizosphaera genera as the most represented on both reddened and green needles; these results suggest that these fungi likely live as endophytes, resuming their growth when needles are affected by environmental stressors such as wind, hail, mechanical wounds and do not represent a biotic constraint for A. nebrodensis. The disorders observed appear mostly as a consequence of the harsh site in which the relic species lives. Together with the fungal community observed on symptomatic and healthy needles, they indicate that A. nebrodensis adapted and tolerates its altered habitat.

Effect of drama training on self-esteem and personality strengths: A feasibility case control study of nidotherapy.

Although there are many case reports and qualitative studies on the likely positive effects of drama on mental health there have been few quantitative studies with mentally ill patients. To assess the effect of drama training in patients receiving nidotherapy with a range of mental and personality disorders on changes in self-esteem and personality strengths over a 1-month period compared with two control groups, one with similar mental disorders and another without, who had similar assessments but no acting involvement. A total of 19 patients were recruited from a mental health charity with current significant mental illness (active group: n = 6) (b) a control group of patients with current mental illness who were not involved in acting (n = 5), and an additional control group with no current mental illness (n = 8) The patients involved in drama were taking part in nidotherapy, an environmental intervention. Two self-rating scales, the Rosenberg Self-Esteem Scale (RSES) and Abbreviated Personality Strengths Scale (APSS) recorded changes in self-esteem and personality strengths at base-line and after 1 month in the participants. Random effects modelling was used to analyse the data. The intervention group showed positive improvement in personality strengths (p = .009) compared to the control group that had no mental illness, and also improved more than the control group with mental illness but not to a significant degree (p = .16). Self-esteem recorded with the Rosenberg scale was lower in those in the acting group at baseline compared with the other two groups (p = .088) but after acting training improved by 29% to be equivalent to the control groups. Despite the limited numbers in this study, and the consequent inability to make firm conclusions about the efficacy of drama therapy as part of nidotherapy, the findings suggest that larger trials of this approach are feasible and worth exploring. .

Neurophysiology of hypokinetic movement’s disorders: New insights in daily clinical practice

Hypokinetic movement disorders encompass a group of clinically similar diseases that present challenges in discrimination during neurological examinations. Characterizing a specific hypokinetic disorder is necessary for the diagnosis and treatment in daily clinical practice. Neurophysiological tools, such as electromyography (EMG) combined with accelerometry, motor-evoked potentials (MEPs), electroencephalographic recording (EEG), Bereitschaftspotential (BP), auditory-evoked cognitive potential (P300), blink reflex (BR), and R2 blink reflex recovery cycle (R2BRRC), are useful in the differential diagnosis of movement disorders due to the common clinical features. However, neurophysiological assessments of movement disorders, especially hypokinetic diseases, are currently underutilized in clinical practice as compared to a few decades ago. This review aims to summarize practical insights gleaned from reported studies over the past 5 years (i.e., 2019 &amp;ndash; 2023) regarding neurophysiological assessments of hypokinetic movement disorders, emphasizing the importance of their routine application. In particular, the methodology of the electrophysiologic evaluations pertaining to hypokinetic movement disorders is assessed. Moreover, a practical approach for the differential diagnosis of similar movement disorder syndromes based on specific neurophysiological features is proposed. Collectively, this review of the most recent neurophysiological implications in hypokinetic movement disorders highlights the practicality of these methods. Despite the advancement of other diagnostic techniques (e.g., neuroradiological methods), neurophysiological assessments may be a promising tool for clinical diagnoses, due to their high accuracy and ability to categorize and manage movement disorders (e.g., hypokinetic movement disorders) in daily clinical practice.

Marked increase in severe neurological disorders after nitrous oxide abuse: a retrospective study in the Greater Paris area

BackgroundRecreational nitrous oxide (N2O) use has become more widespread worldwide, leading to an increase in myelopathies and peripheral neuropathies. The aim of this study was to describe clinical and socioeconomical characteristics of severe N2O-induced (NI) neurological disorders (NI-NDs), to determine its incidence in the Greater Paris area and to compare it with that of similar inflammatory neurological disorders.MethodsWe performed a retrospective multicentric cohort study of all adult patients with severe NI-NDs in the neurology and general internal medicine departments of the Greater Paris area from 2018 to 2021. The incidence was compared with that of non-NI-myelitis and Guillain–Barré syndrome (GBS) using a sample of 91,000 hospitalized patients sourced from health insurance data.ResultsAmong 181 patients, 25% had myelopathy, 37% had peripheral neuropathy and 38% had mixed disease. Most were aged between 20 and 25 years, lived in socially disadvantaged urban areas, and exhibited high rates of unemployment (37%). The incidence of NI-NDs increased during 2020 and reached a peak mid-2021. The 2021 incidence in 20–25-year-olds was 6.15 [4.72; 8.24] per 100,000 persons for NI-myelopathy and 7.48 [5.59; 9.37] for NI-peripheral neuropathy. This was significantly higher than for non-NI-myelitis (0.35 [0.02; 2.00]) and GBS (2.47 [0.64; 4.30]). The incidence of NI-NDs was two to three times higher in the most socially disadvantaged areas.ConclusionThe recent increase in recreational N2O use has led to a rise in the incidence of severe NI-NDs, particularly in young adults with low socioeconomic status for whom NI-NDs strongly outweigh similar neurological disorders.

Differential effects of repeated fluoxetine and ketamine administration on behavioral and pharmacological stressor-induced depression of digging behavior in mice.

Major depressive disorder is a multifactorial disorder that originates from a complex web of variables and overlaps with similar disorders (e.g., depression and anxiety). As such, animal models should account for the considerable symptom overlap between psychiatric disorders. We sought to extend the findings of behavioral assays that encompass both anxiety and stress/depression components. To do so, we have focused on digging behavior, a compulsive-like behavior displayed in mice, in which we employed behavioral and pharmacological stressors to reduce digging behaviors, producing a depression-like state. Locomotor activity was assessed during each test session. We found that digging behavior remains consistent, but locomotor activity decreased when exposed to multiple test sessions over 4 weeks and no sex differences were observed. A time-course study showed a single swim stress significantly reduced digging behavior for at least 3 days but rebounded to baseline levels by Day 7. Repeated treatment of 10 mg/kg/day fluoxetine, but not ketamine, partially reversed swim stress-induced depression of digging behavior on Days 3 and 7. The pharmacological stressor yohimbine (1.0-5.0 mg/kg) dose-dependently decreased digging behavior. Repeated treatment of 10 mg/kg/day ketamine, but not fluoxetine, reversed yohimbine-induced depression of digging behavior on Days 3 and 7. These data suggest that digging behavior is a stable and consistent behavior displayed by all mice. We were able to depress digging behavior with both behavioral and pharmacological stress. However, the reversal of stress-induced depression of digging behavior was stimulus- (e.g., behavioral vs. pharmacological) and drug-dependent and will require further investigation. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Полиморфизм генa TP53 (rs1042522) и особенности иммунного профиля у детей, проживающих в условиях аэрогенной экспозиции бенз(а)пиреном

Examining peculiarities of an immune profile and genetic polymorphisms is especially relevant when identifying markers of effect and sensitivity to exposure to benzo(a)pyrene in northern areas. We examined 1253 children who lived in industrial centers and on conditionally clean territories in the north and south of Eastern Siberia. Levels of benzo(a)pyrene in ambient air and in children’s blood were determined by using HPLC. TP53 (rs1042522) polymorphism was examined by using real-time PCR; p53 levels were identified with flow cytofluorometry; IgG to benzo(a)pyrene, by the radioallergosorbent tests. Exposure of children in Northern Siberia to airborne benzo(a)pyrene at the dose of 7.11•10-3 µg/(kg•day) causes ben-zo(a)pyrene contamination in blood, activates apoptosis (p53) and stimulates occurrence of specific sensitization (IgG to benzo(a)pyrene) (p &lt; 0.05). Similar disorders were established in children in Southern Siberia under exposure to airborne benzo(a)pyrene at the dose of 86.46•10-3 µg/(kg•day). The detected changes in immune profiles of children living in Northern Siberia are associated with G-allele and GG-genotype (rs1042522) of the TP53 gene (OR = 1.37–1.83, p &lt; 0.05); children in Southern Siberia, С-allele and СС-genotype of the said gene (OR = 1.55–2.38, p &lt; 0.05). Therefore, the immune profile of children exposed to airborne benzo(a)pyrene at the dose of 7.11•10-3 µg/(kg•day) in Northern Siberia bears some signs of activated apoptosis (p53) and specific sensitization (IgG to benzo(a)pyrene) associated with G-allele and GG-genotype of the TP53 gene (rs1042522) (OR = 1.37–1.83, p &lt; 0.05). These identified changes in the immune profile are comparable with effects produced by exposure to airborne benzo(a)pyrene at the dose of 86.46•10-3 µg/(kg•day) in Southern Siberia, which are associated with С-allele and СС-genotype of the same gene (OR = 1.55–2.38, p &lt; 0.05). This confirms a hypothesis that effects of technogenic chemical factors can be modulated by specific climatic conditions in northern areas and a contribution made by genetic predisposition. Their combined effect creates a serious risk of developing impairments in an immune profile (OR = 1.37–1.83, p &lt; 0.05; RR = 1.17; 95 % CI: 1.07–1.27) even under low-dose exposure to airborne benzo(a)pyrene.

Polymorphism of TP53 (rs1042522) gene and peculiarities of the immune profile in children exposed to airborne benzo(a)pyrene

Examining peculiarities of an immune profile and genetic polymorphisms is especially relevant when identifying markers of effect and sensitivity to exposure to benzo(a)pyrene in northern areas. We examined 1253 children who lived in industrial centers and on conditionally clean territories in the north and south of Eastern Siberia. Levels of benzo(a)pyrene in ambient air and in children’s blood were determined by using HPLC. TP53 (rs1042522) polymorphism was examined by using real-time PCR; p53 levels were identified with flow cytofluorometry; IgG to benzo(a)pyrene, by the radioallergosorbent tests. Exposure of children in Northern Siberia to airborne benzo(a)pyrene at the dose of 7.11•10-3 µg/(kg•day) causes ben-zo(a)pyrene contamination in blood, activates apoptosis (p53) and stimulates occurrence of specific sensitization (IgG to benzo(a)pyrene) (p &lt; 0.05). Similar disorders were established in children in Southern Siberia under exposure to airborne benzo(a)pyrene at the dose of 86.46•10-3 µg/(kg•day). The detected changes in immune profiles of children living in Northern Siberia are associated with G-allele and GG-genotype (rs1042522) of the TP53 gene (OR = 1.37–1.83, p &lt; 0.05); children in Southern Siberia, С-allele and СС-genotype of the said gene (OR = 1.55–2.38, p &lt; 0.05). Therefore, the immune profile of children exposed to airborne benzo(a)pyrene at the dose of 7.11•10-3 µg/(kg•day) in Northern Siberia bears some signs of activated apoptosis (p53) and specific sensitization (IgG to benzo(a)pyrene) associated with G-allele and GG-genotype of the TP53 gene (rs1042522) (OR = 1.37–1.83, p &lt; 0.05). These identified changes in the immune profile are comparable with effects produced by exposure to airborne benzo(a)pyrene at the dose of 86.46•10-3 µg/(kg•day) in Southern Siberia, which are associated with С-allele and СС-genotype of the same gene (OR = 1.55–2.38, p &lt; 0.05). This confirms a hypothesis that effects of technogenic chemical factors can be modulated by specific climatic conditions in northern areas and a contribution made by genetic predisposition. Their combined effect creates a serious risk of developing impairments in an immune profile (OR = 1.37–1.83, p &lt; 0.05; RR = 1.17; 95 % CI: 1.07–1.27) even under low-dose exposure to airborne benzo(a)pyrene.

Disentangling differing relationships between internalizing disorders and alcohol use.

Both internalizing disorders and alcohol use have dramatic, wide-spread implications for global health. Previous work has established common phenotypic comorbidity among these disorders, as well as shared genetic variation underlying them both. We used genomic structural equation modeling to investigate the shared genetics of internalizing, externalizing, and alcohol use traits, as well as to explore whether specific domains of internalizing symptoms mediate the contrasting relationships with problematic alcohol use compared to alcohol consumption. We also examined patterns of genetic correlations between similar traits within additional Finnish and East Asian ancestry groups. When the shared genetic influence of externalizing psychopathology was accounted for, the genetic effect of internalizing traits on alcohol use was reduced, suggesting the important role of common genetic factors underlying multiple psychiatric disorders and their genetic influences on comorbidity of internalizing and alcohol use traits. Individual internalizing domains had contrasting effects on frequency of alcohol consumption, which demonstrate the complex system of pleiotropy that exists, even within similar disorders, and can be missed when evaluating only relationships among formal diagnoses. Future work must consider the broad effects of shared psychopathology along with the fine-scale effects of heterogeneity within disorders to more fully understand the biology underlying complex traits.

Protein Translation in the Pathogenesis of Parkinson's Disease.

In recent years, research into Parkinson's disease and similar neurodegenerative disorders has increasingly suggested that these conditions are synonymous with failures in proteostasis. However, the spotlight of this research has remained firmly focused on the tail end of proteostasis, primarily aggregation, misfolding, and degradation, with protein translation being comparatively overlooked. Now, there is an increasing body of evidence supporting a potential role for translation in the pathogenesis of PD, and its dysregulation is already established in other similar neurodegenerative conditions. In this paper, we consider how altered protein translation fits into the broader picture of PD pathogenesis, working hand in hand to compound the stress placed on neurons, until this becomes irrecoverable. We will also consider molecular players of interest, recent evidence that suggests that aggregates may directly influence translation in PD progression, and the implications for the role of protein translation in our development of clinically useful diagnostics and therapeutics.

Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.

A progressive neurological disorder was observed in a male neutered Weimaraner. Clinical signs included fecal incontinence, lethargy, moderate paraparesis, proprioceptive pelvic limb ataxia, falling, cognitive decline, incoordination, decreased interest in food, changes in posture, and episodes of trance-like behavior. Neurologic signs were first observed at approximately 4 years, 10 months of age and progressed slowly. Magnetic resonance imaging showed generalized brain atrophy with areas of white matter pathology. Humane euthanasia was elected at 6 years, 7 months of age due to increasing severity of the neurological signs. Autofluorescent intracellular granules were observed in the cerebral and cerebellar cortexes, optic nerve, and cardiac muscle of the affected dog. These abnormal inclusions in the cerebral cortex and cardiac muscle immunolabeled with antibodies to mitochondrial ATP synthase subunit c protein, like that observed in the neuronal ceroid lipofuscinosis group of lysosomal storage diseases. Immunolabeling also demonstrated pronounced neuroinflammation in brain tissues. The ultrastructural appearances of the disease-related inclusion bodies in the brain and optic nerve were quite variable. The ultrastructure and locations of many of the inclusions in the nervous tissues suggested that they were derived, at least in part, from the myelin surrounding axons. The storage bodies in the cardiac muscle were located in mitochondria-rich regions and consisted of parallel arrays of membrane-like components interspersed with electron-dense flocculent material. The disease was characterized by pronounced abnormalities in the myelin of the brain and optic nerve consisting of distinctive areas of ballooning between the layers of myelin. The whole genome sequence generated from the affected dog contained a homozygous G-to-A missense mutation in CNP, which encodes proteins with CNPase enzyme activity and a structural role in myelin. The mutation predicts a Thr42Met amino acid sequence substitution. Genotyping of archived Weimaraner DNA samples identified an additional G > A variant homozygote with a clinical history and brain lesions similar to those of the proband. Of 304 Weimaraners and over 4000 other dogs of various breeds, the proband and the other Weimaraner that exhibited similar signs were the only two that were homozygous for the CNP missense variant. CNPase immunolabeling was widespread in brain tissues from normal dogs but was undetectable in the same tissues from the proband. Based on the clinical history, fluorescence and electron-microscopy, immunohistochemistry, and molecular genetic findings, the late-onset Weimaraner disorder likely results from the missense mutation that results in CNPase deficiency, leading to myelin abnormalities, accumulation of lysosomal storage bodies, and brain atrophy. Similar disorders have been associated with different CNP variants in Dalmatians and in human subjects.

Mesophiles vs. Thermophiles: Untangling the Hot Mess of Intrinsically Disordered Proteins and Growth Temperature of Bacteria.

The dynamic structures and varying functions of intrinsically disordered proteins (IDPs) have made them fascinating subjects in molecular biology. Investigating IDP abundance in different bacterial species is crucial for understanding adaptive strategies in diverse environments. Notably, thermophilic bacteria have lower IDP abundance than mesophiles, and a negative correlation with optimal growth temperature (OGT) has been observed. However, the factors driving these trends are yet to be fully understood. We examined the types of IDPs present in both mesophiles and thermophiles alongside those unique to just mesophiles. The shared group of IDPs exhibits similar disorder levels in the two groups of species, suggesting that certain IDPs unique to mesophiles may contribute to the observed decrease in IDP abundance as OGT increases. Subsequently, we used quasi-independent contrasts to explore the relationship between OGT and IDP abundance evolution. Interestingly, we found no significant relationship between OGT and IDP abundance contrasts, suggesting that the evolution of lower IDP abundance in thermophiles may not be solely linked to OGT. This study provides a foundation for future research into the intricate relationship between IDP evolution and environmental adaptation. Our findings support further research on the adaptive significance of intrinsic disorder in bacterial species.

Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases.

Posterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying choriocapillaris, encircling the retinal vascular arcades and optic disc. This condition distinctively preserves the foveal region, optic disc, and the outermost regions of the retina. Despite its distinct clinical presentation, due to the infrequency of its occurrence and the limited number of reported cases, the pathophysiology, and the genetic foundations of PPACD are still largely uncharted. This review aims to bridge this knowledge gap by investigating potential genetic contributors to PPACD, assessing current findings, and identifying genes that warrant further study. Emphasis is also placed on the crucial role of multimodal imaging in diagnosing PPACD, highlighting its importance in understanding disease pathophysiology. By analyzing existing case reports and drawing comparisons with similar retinal disorders, this paper endeavors to delineate the possible genetic correlations in PPACD, providing a foundation for future genetic research and the development of targeted diagnostic strategies.

Perianal warty dyskeratoma

Warty dyskeratoma is a rare keratinization disorder marked by acantholytic dyskeratosis and belongs to the spectrum of acantholytic dyskeratosis in dermatology. It was first documented in 1954 and typically manifests in the head, neck, oral mucosa, and trunk, with several cases reported since its discovery. A 35-year-old unmarried gentleman presented in April 2022 with a 5-year history of perineal itching and discomfort. His physical examination revealed a 7-8 centimeter perianal grouped papular plaque. His medical history was unremarkable, and he has no family history of similar conditions or other dermatological disorders. Lab results showed non-reactive rapid plasma reagin and human immunodeficiency antigen/antibody combo. Liver and renal function tests were within normal range as well. The microscopic findings revealed features including prominent hyperkeratosis, invagination filled with keratin, and the surrounding area exhibiting acantholysis and intercellular edema. In conjunction with the patient’s clinical presentation, this histological profile led to the diagnosis of warty dyskeratoma. After treatment with calcipotriene and other topical agents, the last presentation showed very good improvement; the physical examination indicated remarkable thin, flat, soft, grayish plaque in the perianal area. This case report presents a unique instance of warty dyskeratoma affecting the perianal area, shedding light on differential diagnosis and clinical management in this atypical context, which significantly broadens the understanding and emphasizing that the Warty dyskeratoma can manifest in diverse body regions, urging its consideration in the differential diagnosis of perianal papular lesions.

Social skills training with a tabletop role-playing game, before and during the pandemic of 2020: in-person and online group sessions.

The area of social skills is broad, in theory and in practice. For social skills training, various clinical practices have been applied in group sessions, as have motivational resources such as role-playing games (RPGs). In recent years, the need arose to assess the clinical impact of the pandemic. The objective of this study was to determine the impact that the pandemic has had on in-person and online social skills training. We evaluated six subjects with autism spectrum disorder, with or without another, similar disorder, each of whom attended a total of 12 two-hour RPG sessions over a 12-month period. The original (Portuguese-language) version of the Social Skills Inventory for Adolescents was applied at three different time points (pre-, mid-, and post-intervention). After six in-person tabletop RPG sessions, there was an increase in the mean frequency scores and a decrease in the mean difficulty scores. However, during the pandemic, the remaining six sessions were conducted online and the effect was the opposite. Our data indicate that there is a need for further studies assessing social skills training in online contexts.

Machine Learning in the Parkinson’s disease smartwatch (PADS) dataset

The utilisation of smart devices, such as smartwatches and smartphones, in the field of movement disorders research has gained significant attention. However, the absence of a comprehensive dataset with movement data and clinical annotations, encompassing a wide range of movement disorders including Parkinson’s disease (PD) and its differential diagnoses (DD), presents a significant gap. The availability of such a dataset is crucial for the development of reliable machine learning (ML) models on smart devices, enabling the detection of diseases and monitoring of treatment efficacy in a home-based setting. We conducted a three-year cross-sectional study at a large tertiary care hospital. A multi-modal smartphone app integrated electronic questionnaires and smartwatch measures during an interactive assessment designed by neurologists to provoke subtle changes in movement pathologies. We captured over 5000 clinical assessment steps from 504 participants, including PD, DD, and healthy controls (HC). After age-matching, an integrative ML approach combining classical signal processing and advanced deep learning techniques was implemented and cross-validated. The models achieved an average balanced accuracy of 91.16% in the classification PD vs. HC, while PD vs. DD scored 72.42%. The numbers suggest promising performance while distinguishing similar disorders remains challenging. The extensive annotations, including details on demographics, medical history, symptoms, and movement steps, provide a comprehensive database to ML techniques and encourage further investigations into phenotypical biomarkers related to movement disorders.

Copper Precursor Salt‐Dependent Antimicrobial Activity of Graphite Oxide Composites Against Escherichia coli and Staphylococcus Aureus: Synthesis and Characterization

Graphite oxide (GrO) is doped with Cu(NO3)2 (CuN/GrO) and CuSO4 (CuS/GrO). Face‐centered cubic Cu, monoclinic CuO, and cubic Cu2O mixed crystalline phases are observed. The ID/IG ratio on average is 1.0 for all composites, associated with similar structural disorders and defects. CuN/GrO and CuS/GrO composites increase the C:O ratio by 30% compared to GrO. In Cu(NO3)2‐ and CuSO4‐doped GrO composites, the copper particle dispersion is on the GrO surface and GrO edges, respectively. By agarwell diffusion assay, the CuN/GrO composite presents only inhibition against the Staphylococcus aureus microorganism at 10 mg mL−1 per well. However, using the CuS/GrO composite, the minimum inhibitory concentration is 5 mg mL−1 per well against Escherichia coli and S. aureus microorganisms. In general, the copper precursor salt influences the copper particle localization in the GrO matrix in a different way, modulating the antimicrobial behavior. In this way, it is possible to establish a possible electrostatic adsorption caused by the Cu+ or Cu2+ ions and the negative charges of the bacterial cell membrane, where the adsorption and mass diffusion mechanisms between charged composites and Gram‐positive and Gram‐negative microorganisms are affected by the copper particle arrangement in the composites.