Additional Symptoms Research Articles

Poststroke Spasticity: Pathophysiology and Management An Accurate Evaluation of Spasticity

Stroke is a major contributor to long-term impairment and disability, affecting up to one-third of survivors and almost half of patients showing neurological deficit at six months. Spasticity affects approximately 25% of individuals within two weeks of a stroke and increases to 44% in patients who have had a second stroke. Severe or incapacitating spasticity affects 15% of post-stroke individuals. Poststroke spasticity is also linked to additional signs and symptoms of the upper motor neuron syndrome, such as simultaneous contraction of agonist and antagonist muscles, weakness of the muscles, and a lack of coordination. Spasticity arises due to aberrant neuroplasticity that develops after a stroke and there is currently no specific intervention method designed to address and correct this abnormal plasticity that takes place during the acute phase. Just before implementing any measures to deal with spasticity, it is crucial to evaluate the influence on the quality of life and level of severity. Several grading scales are used to measure spasticity such as the MAS and modified Tardieu scale.There are various therapeutic approaches that may be categorized into three main classes: physical, pharmaceutical, and surgical. Each class has a distinct purpose and is used at the appropriate moment to reduce the level of spasticity and improve the patient's health. Physiotherapy serves as a base of improving the patient's condition and facilitating the development of brain networks. The objective of post stroke spasticity management must include not only the reduction of muscle hypertonia, but also the evaluation of how post stroke influences functionality and overall mental health. Improper treatment or non-compliance may result in increased pain, joint contraction, and further disability. The goal is to assist the patient in achieving the best possible quality of life. Keywords: Pathophysiology of Post-Stroke Spasticity; Management of Post-Stroke Spasticity; Evaluation of Post-Stroke Spasticity

Morbidity and unplanned healthcare encounters after hospital discharge among young children in Dar es Salaam, Tanzania and Monrovia, Liberia

BackgroundResearchers and healthcare providers have paid little attention to morbidity and unplanned healthcare encounters for children following hospital discharge in low- and middle-income countries. Our objective was to compare symptoms...

QOL-28. NEUROCOGNITIVE DEFICITS, EMOTIONAL DISTURBANCES, PSYCHOSOMATIC COMPLAINS – ADDITIONAL SYMPTOMS OR COMORBID DIAGNOSIS IN CNS GERMINOMA? OVERVIEW OF GROUP AND CASE STUDIES

Abstract BACKGROUND CNS Germinoma cases are associated with good medical prognosis, low risk for neurological deficits and high cognitive functioning. Deeper psychological and neuropsychological examination and longitudinal observation shows also neurocognitive problems and emotional disturbances. The purpose of the study was to assess patients with CNS Germinoma (during and after anticancer treatment), expressed specific psychological and physical symptoms and to find the reason for this. METHODS Since 1998 all patients treated at our center are under psychological control and care. From these group 78 patients with CNS Germinoma with additional significant symptoms, seriously affected their quality of life and everyday activity, were selected for psychological and neuropsychological assessment. Age at psychological intervention ranged from 6 5/12 to 34 8/12 yrs. The patients have no pre-diagnosis history of neurological, developmental or psychiatric disorder. They were examined using a battery of standardized psychological and neuropsychological methods. RESULTS In our sample FIQ (full-scale intelligence quotient) score ranged from 59 to 139. The most patients presented average level of intelligence. However, cognitive functioning was often reduced due to emotional disturbances and psychosomatic complains. 2 patients showed memory disorders, one of them TGA (transient global amnesia) at the time of diagnosis. All patients struggled with emotional disturbances at different grades, especially internalizing type of problems (immaturity, depression, anxiety, instability, inhibition, negative attitude) or were considered to be at risk for psychological adjustment difficulties and tendency to somatization. Analyzed group of patients showed also social competences deficits. They may exhibit deficit in age-appropriate social competence and peers relations. CONCLUSIONS Although CNS Germinoma patients shows similar behavioral and emotional phenotype, there are significant differences between them in terms of cognitive functions. The range of results is wide, from high levels to neurocognitive disorders. Therefore, risk factors, diagnostic criteria and effective neuropsychological intervention, will also be presented and discussed.

Sleep Health Analysis Through Sleep Symptoms in 35,808 Individuals Across Age and Sex Differences: Comparative Symptom Network Study.

Sleep health is a multidimensional construct that includes objective and subjective parameters and is influenced by individual sleep-related behaviors and sleep disorders. Symptom network analysis allows modeling of the interactions between variables, enabling both the visualization of relationships between different factors and the identification of the strength of those relationships. Given the known influence of sex and age on sleep health, network analysis can help explore sets of mutually interacting symptoms relative to these demographic variables. This study aimed to study the centrality of symptoms and compare age and sex differences regarding sleep health using a symptom network approach in a large French population that feels concerned about their sleep. Data were extracted from a questionnaire provided by the Réseau Morphée health network. A network analysis was conducted on 39 clinical variables related to sleep disorders and sleep health. After network estimation, statistical analyses consisted of calculating inferences of centrality, robustness (ie, testifying to a sufficient effect size), predictability, and network comparison. Sleep clinical variable centralities within the networks were analyzed by both sex and age using 4 age groups (18-30, 31-45, 46-55, and >55 years), and local symptom-by-symptom correlations determined. Data of 35,808 participants were obtained. The mean age was 42.7 (SD 15.7) years, and 24,964 (69.7%) were women. Overall, there were no significant differences in the structure of the symptom networks between sexes or age groups. The most central symptoms across all groups were nonrestorative sleep and excessive daytime sleepiness. In the youngest group, additional central symptoms were chronic circadian misalignment and chronic sleep deprivation (related to sleep behaviors), particularly among women. In the oldest group, leg sensory discomfort and breath abnormality complaint were among the top 4 central symptoms. Symptoms of sleep disorders thus became more central with age than sleep behaviors. The high predictability of central nodes in one of the networks underlined its importance in influencing other nodes. The absence of structural difference between networks is an important finding, given the known differences in sleep between sexes and across age groups. These similarities suggest comparable interactions between clinical sleep variables across sexes and age groups and highlight the implication of common sleep and wake neural circuits and circadian rhythms in understanding sleep health. More precisely, nonrestorative sleep and excessive daytime sleepiness are central symptoms in all groups. The behavioral component is particularly central in young people and women. Sleep-related respiratory and motor symptoms are prominent in older people. These results underscore the importance of comprehensive sleep promotion and screening strategies tailored to sex and age to impact sleep health.

Towards knowledge-infused automated disease diagnosis assistant

With the advancement of internet communication and telemedicine, people are increasingly turning to the web for various healthcare activities. With an ever-increasing number of diseases and symptoms, diagnosing patients becomes challenging. In this work, we build a diagnosis assistant to assist doctors, which identifies diseases based on patient–doctor interaction. During diagnosis, doctors utilize both symptomatology knowledge and diagnostic experience to identify diseases accurately and efficiently. Inspired by this, we investigate the role of medical knowledge in disease diagnosis through doctor–patient interaction. We propose a two-channel, knowledge-infused, discourse-aware disease diagnosis model (KI-DDI), where the first channel encodes patient–doctor communication using a transformer-based encoder, while the other creates an embedding of symptom-disease using a graph attention network (GAT). In the next stage, the conversation and knowledge graph embeddings are infused together and fed to a deep neural network for disease identification. Furthermore, we first develop an empathetic conversational medical corpus comprising conversations between patients and doctors, annotated with intent and symptoms information. The proposed model demonstrates a significant improvement over the existing state-of-the-art models, establishing the crucial roles of (a) a doctor’s effort for additional symptom extraction (in addition to patient self-report) and (b) infusing medical knowledge in identifying diseases effectively. Many times, patients also show their medical conditions, which acts as crucial evidence in diagnosis. Therefore, integrating visual sensory information would represent an effective avenue for enhancing the capabilities of diagnostic assistants.

Symptom Clusters in Acute SARS-CoV-2 Infection and Long COVID Fatigue in Male and Female Outpatients.

(1) Background: After an acute SARS-CoV-2 infection, patients are at risk of developing Long COVID, with fatigue as a frequent and serious health problem. Objectives: To identify symptom clusters in acute SARS-CoV-2 infections and investigate their associations with the development of Long COVID fatigue, and to examine sex-specific differences. (2) Methods: The analysis included a total of 450 COVID-19 outpatients, of whom 54.4% were female. The median ages of the men and women were 51 years (IQR 36.0; 60.0) and 48 years (IQR 33.0; 57.0), respectively. Data collection took place between November 2020 and May 2021, with a median time between acute SARS-CoV-2 infection and examination in the study center of 240 days (IQR 133; 326). The Fatigue Assessment Scale (FAS) was used to identify fatigue and its severity. A multiple correspondence analysis was used to group forty-two COVID-19 symptoms into seven symptom clusters. Logistic and log-linear regressions were used to investigate associations between acute symptom clusters and Long COVID fatigue as dichotomous and continuous outcome, respectively. (3) Results: Fatigue occurred more frequently in women than in men (45% vs. 25%) and the median FAS score, indicating severity of fatigue, was higher in women than in men. The comparison between men and women revealed notable differences in four out of seven clusters. The strongest associations between symptom clusters in infection and Long COVID fatigue were identified for the cluster "cognitive and mental symptoms". In the log-linear regression model, each additional symptom in this cluster was associated with an increase of the FAS score by 5.13% (95% CI: [0.04; 0.07]; p < 0.001). The results of the logistic regression models supported this finding. Each additional symptom in this symptom cluster increased the odds of fatigue by 42% (95% CI: [1.23; 1.66]; p < 0.001). (4) Conclusions: In our study in COVID-19 outpatients, a strong association was observed between the number of symptoms in the cluster "cognitive and mental symptoms" during acute SARS-CoV-2 infection and the risk of developing fatigue months later. The consequent use of preventive and therapeutic strategies is necessary to decrease the burden of fatigue in the context of Long COVID.

Systematic Review of the Global Use of Validated Questionnaires in the Management of Stress Urinary Incontinence in Women.

Our goal was to systematically review the most commonly used validated questionnaires in recent global literature on stress urinary incontinence (SUI) treatment. PubMed, Embase, and Ovid databases were queried for manuscripts containing "female stress urinary incontinence" AND "diagnosis" AND "treatment" AND "questionnaire." Two independent reviewers screened studies for randomized controlled trials, prospective, and retrospective studies between 2018 and 2023. Exclusion criteria included male participants, non-SUI incontinence, and articles not originally written in English. The review was registered in PROSPERO [465721] and conformed to PRISMA guidelines. In 117 manuscripts meeting study criteria, the median of the mean ages was 52 years, with a median of 164 participants per study. Most studies originated in Europe (59/117). The International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form was the most frequently used (52%), followed by the Patient Global Impression of Improvement (31%), the Urinary Distress Inventory 6 Short Form (25%), the Incontinence Quality of Life (20%), and the Incontinence Impact Questionnaire-Short Form (19%). These leading questionnaires were short, translated into several languages, and globally addressed important SUI-related domains, including the presence and severity of SUI, additional lower urinary tract symptoms, and the impact of SUI on quality of life, as well as changes perceived after treatment. This systematic review of the validated questionnaires used in contemporary SUI management literature could help guide recommendations for incorporating these favored instruments into future SUI treatment outcome documents.

Validation of Methotrexate Intolerance Severity Score (MISS) questionnaire to measure methotrexate intolerance among rheumatoid arthritis Egyptian patients

BackgroundRheumatoid arthritis (RA) is a systemic autoimmune chronic inflammatory disease, causing progressive disability. Methotrexate (MTX) is the gold standard drug treatment for RA. Long-term use of MTX is associated with intolerance including gastrointestinal effects. In addition, anticipatory, associative, and behavioral symptoms such as anxiety and irritability are also observed which are often inadequately managed, leading to discontinuation of treatment. Methotrexate Intolerance Severity Score (MISS) questionnaire designed to measure MTX intolerance. The work aims to validate the MISS questionnaire Arabic version for the detection of MTX intolerance among Egyptian RA patients to halt the progression of the disease.ResultsA total of 80 patients were involved in this study. Of those, 67 (83.8%) were females with a mean disease duration of 6.9 ± 6.1 years. Forty-eight patients (60%) were intolerant to MTX and 32 patients (40%) were tolerant. Comparison between the tolerant group (n = 32) to MTX and the intolerant group (n = 48) revealed a statistically significant difference between them regarding the DAS28 score and HAQ score. Behavioral intolerance is the predominant factor that directs MTX intolerance.ConclusionThe MISS questionnaire has a good predictive ability to detect MTX intolerance among Egyptian RA patients. Due to its good reliability, serves as an invaluable tool as it detects anticipatory and associative symptoms.

RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls.

The intronic biallelic AAGGG expansion in the replication factor C subunit 1 (RFC1) gene was recently associated with a phenotype combining cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, as well as with late-onset ataxia. Following this discovery, studies in multiple populations extended the phenotypic and genotypic spectrum of this locus. Multiple benign and additional pathogenic configurations are currently known. Our main objectives were to study the prevalence of the pathogenic AAGGG expansion in the Cypriot population, to further characterize the RFC1 repeat locus allele distribution, and to search for possible novel repeat configurations. Cypriot undiagnosed patients, in the majority presenting at least with cerebellar ataxia and non-neurologic disease controls, were included in this study. A combination of conventional methods was used, including standard PCR flanking the repeat region, repeat-primed PCR, long-range PCR, and Sanger sequencing. Bioinformatics analysis of already available in-house short-read whole-genome sequencing data was also performed. A large group of undiagnosed patients (n = 194), mainly presenting with pure ataxia or with ataxia accompanied by neuropathy or additional symptoms, as well as a group of non-disease controls (n = 100), were investigated in the current study. Our findings include the diagnosis of 10 patients homozygous for the pathogenic AAGGG expansion and a high percentage of heterozygous AAGGG carriers in both groups. The benign AAAAGn, AAAGGn, and AAGAGn configurations were also identified in our cohorts. We also report and discuss the identification of 2 recently reported novel and possibly benign repeat configurations, AAAGGGn and AAGACn, thus confirming their existence in another distinct population, and we highlight an increased frequency of the AAAGGGn in the patient group, including a single case of homozygosity. Our findings indicate the existence of genetic heterogeneity regarding the RFC1 repeat configurations and that the AAGGG pathogenic expansion is a frequent cause of ataxia in the Cypriot population.

Anoxic Brain Injury: A Subtle and Often Overlooked Finding in Non-Fatal Intimate Partner Strangulation

BackgroundA paucity of literature exists dedicated to the identification of anoxic brain injury in patients that survive non-fatal intimate partner strangulation (NF-IPS). While some individuals report experiencing symptoms of brain hypoxia followed by a loss of consciousness, other individuals report symptoms of brain hypoxia prior to amnesia, rendering some unable to recall loss of consciousness (LOC). ObjectiveUsing a standardized clinical assessment tool, the purpose of this retrospective analysis is to describe anoxic brain injury symptom prevalence in a sample of patients reporting NF-IPS. MethodsOne hundred and ninety-one unique patients, reporting a total of 267 strangulation events, were assessed by a member of the Shasta Community Forensic Care Team utilizing the Strangulation Hypoxia Anoxia Symptom TBI Assessment (SHASTA) tool. The sample is 98% female and includes adult patients ages 18–68. Examination records were categorized based on the presence or absence of hypoxia and anoxia symptoms. This manuscript utilizes the STROBE checklist. ResultsAmnesia was reported in 145 of the 267 strangulations (54.3%). Of those, 74 reported LOC (51.0%) while 71 did not recall LOC (49.0%). ConclusionsWithin our sample, 49% of patients with amnesia did not recall losing consciousness, demonstrating that LOC is an imperfect measure of anoxia for patients following NF-IPS. Healthcare providers examining NF-IPS patients should inquire about additional symptoms of hypoxia and amnesia, which can be captured on the SHASTA tool.

Patient (pt) interview–based content validation of the Myelofibrosis Symptom Assessment Form version 4.0 (MFSAF v4.0).

e23106 Background: Pts with myelofibrosis (MF) often experience debilitating symptoms that negatively impact health-related quality of life and functioning. The MFSAF v4.0 is a 7-item questionnaire assessing the burden of MF symptoms, including fatigue, night sweats, pruritus, abdominal discomfort, pain under left ribs, early satiety, and bone pain. Each item is evaluated on an 11-point numeric rating scale (NRS) from 0 (absent) to 10 (worst imaginable). We sought to evaluate the content validity of the MFSAF v4.0 in Janus kinase inhibitor–experienced pts with MF. Methods: Qualitative interviews were conducted remotely by trained interviewers with 20 Janus kinase inhibitor–experienced and symptomatic (MFSAF Total Symptom Score [TSS] ≥10) pts with MF from the US (n = 5) and UK, Germany, Italy, Poland, and Spain (n = 3 each). The interview began with a concept elicitation section to allow spontaneous reporting of important concepts prior to content validation of the MFSAF v4.0 items and NRS as relevant, important, and understandable to pts. Results: Mean pt age was 59.4 years; 50% were male, 55% were diagnosed within the past year, 95% were on any treatment for MF, and 75% were anemic. On average, pts had 2.1 transfusions within the past 3 mo. Mean MFSAF v4.0 TSS was 28.6.The top spontaneously endorsed symptoms were tired (70%), bone/muscle pain (70%), fatigue (55%), night sweats (45%), and pruritis (45%), many of which are also items in the MFSAF v4.0. An additional 18 symptoms were spontaneously mentioned by pts prior to completion of the MFSAF v4.0. Many of these other symptoms were endorsed by ≤10% of pts (1 or 2 pts each), and 90% of pts felt that the measure represented their experience and did not recommend inclusion of additional symptoms after reviewing the measure. Overall, pts showed a clear understanding of the MFSAF v4.0 (Table). No more than 3 pts (15%) mentioned that a given item was not relevant to their individual experience. Pts consistently felt that it was easy to select an answer on the response scale and were able to differentiate response options. When describing meaningful change in terms of NRS, pts most often suggested that an improvement of 2 to 4 points would be meaningful. Conclusions: Based on the findings from this study, the MFSAF v4.0 is a content-valid measure for pts with MF and captures the most important concepts. All items are comprehensible and relevant, with the NRS endorsed as an appropriate response scale. [Table: see text]

Relationships between trauma types and psychotic symptoms: A network analysis of patients with psychotic disorders in a large, multi-country study in East Africa

BackgroundThe link between trauma exposure and psychotic disorders is well-established. Further, specific types of trauma may be associated with specific psychotic symptoms. Network analysis is an approach that can advance our understanding of the associations across trauma types and psychotic symptoms. MethodsWe conducted a network analysis with data from 16,628 adult participants (mean age [standard deviation] = 36.3 years [11.5]; 55.8% males) with psychotic disorders in East Africa recruited between 2018 and 2023. We used the Life Events Checklist and the Mini International Neuropsychiatric Interview to determine whether specific trauma types experienced over the life course and specific psychotic symptoms were connected. We used an Ising model to estimate the network connections and bridge centrality statistics to identify nodes that may influence trauma types and psychotic symptoms. ResultsThe trauma type “exposure to a war zone” had the highest bridge strength, betweenness, and closeness. The psychotic symptom “odd or unusual beliefs” had the second highest bridge strength. Exposure to a war zone was directly connected to visual hallucinations, odd or unusual beliefs, passivity phenomena, and disorganized speech. Odd or unusual beliefs were directly connected to transportation accidents, physical assault, war, and witnessing sudden accidental death. ConclusionSpecific trauma types and psychotic symptoms may interact bidirectionally. Screening for psychotic symptoms in patients with war-related trauma and evaluating lifetime trauma in patients with odd or unusual beliefs in clinical care may be considered points of intervention to limit stimulating additional psychotic symptoms and trauma exposure. This work reaffirms the importance of trauma-informed care for patients with psychotic disorders.

Non-chest pain symptoms and likelihood of coronary occlusion in emergency department patients with ST segment elevation undergoing emergent coronary angiography.

Patients presenting with suspected ST segment elevation myocardial infarction frequently have symptoms in addition to chest pain, including dyspnea, nausea or vomiting, diaphoresis, and lightheadedness or syncope. These symptoms are often regarded as supporting the diagnosis of infarction. We sought to determine the prevalence of the non-chest pain symptoms among patients who were confirmed as having a critically diseased coronary vessel as opposed to those with no angiographic culprit lesion. Data from 1393 consecutive patients with ST segment elevation who underwent emergent coronary angiography were analyzed. Records were reviewed in detail for symptoms, ECG findings, prior history, angiographic findings, and in-hospital outcomes. Dyspnea was present in 50.8% of patients, nausea or vomiting in 36.5%, diaphoresis in 51.2%, and lightheadedness/syncope in 16.8%. On angiography, 1239 (88.9%) patients had a culprit lesion and 154 (11.1%) were found not to have a culprit. Only diaphoresis had a higher prevalence among the patients with, as compared with those without a culprit, with an odds ratio of 2.64 ( P < 0.001). The highest occurrence of diaphoresis was among patients with a totally occluded artery, with an intermediate frequency among patients with a subtotal stenosis, and the lowest prevalence among those with no culprit. These findings were consistent regardless of ECG infarct location, affected vessel, patient age, or sex. Among the subset of patients who presented without chest discomfort, none of the symptoms were associated with the presence of a culprit. The presence of diaphoresis, but not dyspnea, nausea, or lightheadedness is associated with an increased likelihood that patients presenting with ST elevation will prove to have a culprit lesion. In patients who present with ST elevation but without chest discomfort, these symptoms should not be regarded as 'chest pain equivalents'. Further objective data among patients with angiographic confirmation of culprit lesion status is warranted.

Strategies for Treating Acute Migraines and Identifying Triggers. Literature review

Introduction Migraine, a prevalent neurological disorder affecting a substantial portion of the global population, poses a significant burden on individuals' overall quality of life. While the exact pathophysiological mechanisms underlying migraine headache attacks remain elusive, the involvement of trigeminal pathway activation is well-documented. A multitude of factors, collectively termed triggers, have been identified as capable of precipitating migraine episodes, ranging from dietary components to environmental stimuli such as bright lights and weather fluctuations. Migraine headaches typically manifest as throbbing pain localized predominantly on one side of the head and are often accompanied by a constellation of additional symptoms including photophobia, phonophobia, and nausea. The management of migraine involves a diverse array of therapeutic modalities tailored to the specific characteristics of the pain experienced. These may include the administration of non-steroidal anti-inflammatory drugs (NSAIDs), paracetamol, triptans, and antiemetics, among others. This study endeavors to explore the most prevalent triggers implicated in migraine onset, as well as contemporary treatment strategies, with an emphasis on incorporating the latest research findings and therapeutic advancements in this evolving field. Aim of the study This review aims to identify symptoms, triggers of acute migraine and solutions in its treatment process, including latest developments. Material and method This article presents the current state of knowledge about acute migraine, triggers and treatment options in various scientific articles. Publications describing acute migraine attacks and treatments including the most recent reports in the field were reviewed using the PubMed platform. The search included the keywords ‘migraine, 'migraine triggers', 'triptans', 'migraine with aura'.

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.

Congenital insensitivity to pain with anhidrosis (CIPA, OMIM #256800), also known as hereditary sensory and autonomic neuropathy type Ⅳ (HSAN-IV), is a rare autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis, insensitivity to noxious stimuli, self-mutilating behavior and intellectual disability. CIPA can be caused by the variants in NTRK1 gene, which encodes a high-affinity tyrosine kinase receptor for nerve growth factor. To ascertain the hereditary cause of a patient with CIPA accompanied by the additional symptoms of mild growth retardation, prone to fracture, underdeveloped nails of fingers and toes, irregular tooth alignment, enamel hypoplasia, postoperative wound healing difficulty, hand and limb deformity, and dislocation of hip joint, whole exome sequencing was used and revealed a compound heterozygous variant in NTRK1. DNA was extracted from peripheral blood samples of pediatric patients and their parents, and subjected to comprehensive analysis using whole-exome sequencing (WES), followed by verification of variant sites in the NTRK1 gene through Sanger sequencing. To elucidate the functional impact of the newly discovered variants, an in vitro experimental system was established. Splicing analysis was conducted using PCR and Sanger sequencing, while expression levels were assessed through qPCR and Western blot techniques. One hotspot variant c.851-33T>A(ClinVar ID: 21308) and a novel variant c.850 + 5G>A(ClinVar ID:3069176) was inherited from her father and mother, respectively, identified in the affected individuals. The c.850 + 5G>A variant in NTRK1 resulted in two forms of aberrant mRNA splicing: 13bp deletion (c.838_850del13, p. Val280Ser fs180) and 25bp deletion (826_850del25, p. Val276Ser fs180) in exon 7, both leading to a translational termination at a premature stop codon and forming a C-terminal truncated protein. The expression of two abnormal splicing isoforms was decreased both in the level of mRNA and protein. In conclusion, this study elucidated the genetic cause of a patient with CIPA and identified a novel variant c.850 + 5G>A in NTRK1, which broadened the and enriched the NTRK1 mutation spectrum.

Cognitive impairment among patients with chronic immune thrombocytopenia.

Immune thrombocytopenia (ITP) is an autoimmune disease typically associated with severely depleted platelet counts. However, additional symptoms (e.g. increased fatigue and memory/concentration difficulties) can profoundly impact patients' quality of life. The nature and severity of cognitive impairment in ITP, and potential association with patient/disease characteristics were evaluated in 49 adults with relapsed/refractory ITP. The Cogstate Brief Battery quantitatively assessed psychomotor function (DET), attention (IDN), visual learning (OCL) and working memory (ONB) individually, as well as DET/IDN and OCL/ONB composites. Clinically important cognitive impairment (defined as z-score ≤ -1) for ≥2 individual tests was observed in 29 patients (59%). Impairment was highest for IDN (67% of patients), followed by DET (53%), ONB (39%) and OCL (16%). A higher magnitude of impairment was observed for the DET/IDN composite (mean z-score -1.54; 95% CI, -1.94 to -1.13) than OCL/ONB (mean z-score -0.21; 95% CI, -0.49 to 0.07). The severity of cognitive impairment was comparable to mild traumatic brain injury and associated with increasing age and fatigue but unrelated to platelet count or corticosteroid use. Overall, these results warrant a clinical need to further consider the potential of cognitive dysfunction in assessing ITP patients.

Review of Pulmonary Manifestations in Antisynthetase Syndrome.

Antisynthetase syndrome (ASyS) is now a widely recognized entity within the spectrum of idiopathic inflammatory myopathies. Initially described in patients with a triad of myositis, arthritis, and interstitial lung disease (ILD), its presentation can be diverse. Additional common symptoms experienced by patients with ASyS include Raynaud's phenomenon, mechanic's hand, and fever. Although there is a significant overlap with polymyositis and dermatomyositis, the key distinction lies in the presence of antisynthetase antibodies (ASAs). Up to 10 ASAs have been identified to correlate with a presentation of ASyS, each having manifestations that may slightly differ from others. Despite the proposal of three classification criteria to aid diagnosis, the heterogeneous nature of patient presentations poses challenges. ILD confers a significant burden in patients with ASyS, sometimes manifesting in isolation. Notably, ILD is also often the initial presentation of ASyS, requiring pulmonologists to remain vigilant for an accurate diagnosis. This article will comprehensively review the various aspects of ASyS, including disease presentation, diagnosis, management, and clinical course, with a primary focus on its pulmonary manifestations.

Presymptomatic Testing for Huntington's Disease in Mexico: 28 Years of Experience

IntroductionHuntington's disease (HD) is a genetic neurodegenerative disorder with dominant inheritance. Our center in Mexico City has offered presymptomatic testing (PT) since 1995. ObjectiveTo describe the main clinical and demographic characteristics of at-risk HD individuals who applied to the PT program, the reasons for seeking it, and the molecular results. MethodsA cross-sectional study was conducted with sociodemographic and clinical data of all PT applicants from 1995–2023. Reasons for seeking PT were assessed using a modified questionnaire. In addition, anxiety, and depressive symptoms before and after PT were evaluated with Beck's instruments; cognitive impairment (CI) was assessed with the Mini-Mental State Examination (MMSE) and molecular results. Results214 people applied for PT (2.1% of the at-risk population identified in our center); 63% were women (mean age of 37.11 years). 204 (95.3%) were accepted and 190 received results. 70% indicated that the main reason for applying for PT was to inform their offspring about the risk of inheriting HD. Significant differences were observed in the reasons for seeking PT by age group. Although some subjects received treatment, Beck's instrument scores did not indicate special attention or pharmacological treatment. The MMSE showed probable CI in 20 subjects. Of those who received results, 37% were carriers of a full penetrance allele. ConclusionOur center has the only formal PT program for HD in Mexico. The reasons for seeking PT are varied and age-related. Although PT is offered to all subjects at risk for HD, uptake remains low.

A child with unilateral abducens nerve palsy and neurovascular compression in Chiari malformation type 1 resolved with posterior fossa decompression: illustrative case.

Unilateral cranial nerve (CN) VI, or abducens nerve, palsy is rare in children and has not been reported in association with Chiari malformation type 1 (CM1) in the absence of other classic CM1 symptoms. A 3-year-old male presented with acute incomitant esotropia consistent with a unilateral, left CN VI palsy and no additional neurological symptoms. Imaging demonstrated CM1 without hydrocephalus or papilledema, as well as an anterior inferior cerebellar artery (AICA) vessel loop in the immediate vicinity of the left abducens nerve. Given the high risk of a skull base approach for direct microvascular decompression of the abducens nerve and the absence of other classic Chiari symptoms, the patient was initially observed. However, as his palsy progressed, he underwent posterior fossa decompression with duraplasty (PFDD), with the aim of restoring global cerebrospinal fluid dynamics and decreasing possible AICA compression of the left abducens nerve. Postoperatively, his symptoms completely resolved. In this first reported case of CM1 presenting as a unilateral abducens palsy in a young child, possibly caused by neurovascular compression, the patient's symptoms resolved after indirect surgical decompression via PFDD.

Application of Urethral Contrast Computed Tomography Three-Dimensional Imaging in the Postoperative Assessment of Prostate Hyperplasia.

This study assesses the morphological effectiveness of benign prostatic hyperplasia (BPH) surgery using multislice spiral computed tomography three-dimensional imaging (CT3D) with urethral contrast. Twenty-five male patients with BPH and bladder outlet obstruction (BOO) who underwent bipolar transurethral resection of the prostate were selected. Preoperative and postoperative CT3D indicators of retrograde and voiding cystourethrography, including bladder neck diameter, length of the posterior urethra, and degree of prostate protrusion into the bladder and upper and lower diameter of the prostate were used to assess bladder neck and posterior urethra morphology and BOO severity. In addition, preoperative and postoperative International Prostate Symptom Scores and maximum urine flow rates were compared. Postoperative CT3D was used to evaluate changes following obstruction relief postsurgery. Preoperative CT3D indicated significant BOO, whereas postoperative imaging showed improved patency but with irregular posterior urethral lumens and varying degrees of residual glandular tissue. Comparative analysis of preoperative and postoperative bladder outlet metrics revealed significant changes (p < .05). Urethral contrast CT3D effectively visualizes the prostate, bladder neck, and prostatic urethra. It quantifies changes in the urethral lumen postsurgery, correlating the extent of posterior urethral lumen spaciousness with urinary flow rates.