Degree Of Disability Research Articles

The disaggregation of the oswestry disability index in patients undergoing lumbar surgery for degenerative lumbar spondylolisthesis

BACKGROUND CONTEXTThe Oswestry Disability Index (ODI), is a widely used patient-reported outcome measure (PROM) for assessing functional status in individuals with lumbar spine pathology. The ODI is used by surgeons to determine the initial status and monitor progress after surgery. Compiled ODI data enables comparisons between different surgical techniques. Degenerative lumbar spondylolisthesis (DLS) often causes symptoms such as back pain and neurogenic claudication affecting quality of life and activities of daily living captured by the ODI. Despite extensive studies on ODI changes after spinal surgery, little is known about the characteristics and changes in the different ODI subsections. PURPOSETo analyze the baseline characteristics and changes in total ODI and ODI subsections 2 years after elective lumbar surgery. STUDY DESIGNRetrospective analysis on patients prospectively enrolled who underwent spinal surgery for degenerative lumbar spondylolisthesis from 2016 to 2018. The ODI was assessed preoperatively and 2 years postoperatively. PATIENT SAMPLEA total of 265 patients were included in the study, 60% were female. The mean age of the patients was 67±8 years, and the mean BMI was 30±6 kg/m2. OUTCOME MEASURESThe analysis considered the differences in ODI scores before and after surgery, as well as the changes in all ODI subsections 2 years after elective lumbar surgery for DLS. METHODSThe analysis evaluated differences in ODI scores and variations in different subsections. Patients without an ODI follow-up at 2 years were excluded from the study. The study utilized the Wilcoxon Signed Rank Test for all prepost paired samples. The Wilcoxon rank sum test was used for sex and procedure comparisons for overall ODI and ODI subsection analysis. Univariate linear regression was applied for overall and subsection specific ODI outcomes with age and BMI as independent variables, respectively. The statistical significance level was set at p<.05. RESULTSImprovement in ODI was observed in 242 patients (91%). The highest baseline disability values were found for the questions regarding pain intensity (3.4±1.3), lifting (3.2±1.9), and standing (3.4±1.3). The lowest preoperative functional limitations were observed in sleeping (1.6±1.3), personal care (1.6±1.4), traveling (1.6±1.2) and sitting (1.5±1.4). At the 2-year follow-up, there was significant improvement in all questions and the overall ODI (all p<.001). The ODI subsections that showed the greatest absolute improvements were changing degree of pain (−2.6), with 89% of patients experiencing improvement, standing (−2.4) with 87% of patients experiencing improvement, and pain intensity (−2.1) with 81% of patients experiencing improvement. The subsections with the least improvement were personal care (−0.6), sitting (−0.7), and sleeping (−0.9). The study found that female patients had a significantly higher preoperative disability in various subsections but showed greater improvement in total ODI compared to male patients (p=.001). Additionally, improvement in sitting (p<.001), traveling (p<.001), social life (p<.001) and sleeping (p=.018) were significantly higher in female patients. Older patients showed significantly less improvement in sitting (p=.005) and sleeping (p=.002). A higher BMI was significantly associated with less improvement in changing degree of pain (p=.025) and higher baseline disability in various subsections. Patients who underwent decompression and fusion had significantly higher baseline disability in several subsections compared to those who underwent decompression alone. There was no significant difference between decompression alone and decompression with fusion in terms of overall improvement in the ODI and improvement in the subsections. CONCLUSIONThese results offer a more comprehensive understanding of ODI and its changes across different subsections. This insight is invaluable for improving preoperative education and effectively managing patient expectations regarding potential postsurgery disability in specific areas.

Potrzeby osób z niepełnosprawnościami na poziomie lokalnym na przykładzie powiatu trzebnickiego

Getting to know the needs of people with disabilities might truly contribute to the improvement of their quality of life. The aim of the study discussed in this article is the hierarchisation of the needs of people with disabilities at the local level, on the example of Trzebnica poviat, and determining whether there are differences between their order of needs and that indicated at the regional level. The study was carried out from June to September 2020 among people with disabilities aged 15 and over divided into two samples: one consisting of 50 inhabitants of Trzebnica poviat and the other of 188 inhabitants of Dolnośląskie (Lower Silesian) Voivodship. Quota sampling in terms of selected socio-economic features, i.e. the respondents’ gender, place of residence and degree of disability was adopted in the study. Information about the surveyed population obtained from the National Population and Housing Census 2011 and non-governmental organisations was used in the sample selection process. People with disabilities inhabiting Trzebnica poviat identified bathroom modernisation as well as obtaining medicine and care products as their most urgent needs. They pointed to the absence of lifts in residential buildings, obstacles to travelling independently by means of public transport, lack of information about available training, poor prospects for obtaining resources for pursuing their interests and poor condition of roads as the most nagging everyday problems. The comparison of the order of needs of people with disabilities from the Trzebnica poviat and that of people with disabilities from the whole Dolnośląskie Voivodship shows there are differences. However, diagnosing the needs of people with disabilities at a local level and the subsequent implementation of relevant changes by local governments might improve the quality of life of people with disabilities in the whole region.

ICF-based hearing and functioning assessment: validation and research outcomes of utilizing the HEAR-COMMAND tool for patients with mild to moderately severe hearing loss and individuals with normal hearing.

Current clinical assessments for Hearing Loss (HL) are often limited to controlled laboratory settings in which a narrow spectrum of hearing difficulties can be assessed. A majority of the daily life challenges caused by HL cannot be measured in clinical methodologies. To screen the individuals' needs and limitations, a questionnaire named the HEAR-COMMAND tool was developed and qualitatively validated through an international collaboration, aligning with the World Health Organization's International Classification of Functioning, Disability, and Health Framework (ICF) Core Sets for Hearing Loss. The tool empowers healthcare professionals (HCPs) to integrate the ICF framework into patient assessments and patient-reported outcomes (PRO) in clinical and non-clinical settings. The aim is to provide a general foundation and starting point for future applications in various areas including ENT and hearing acoustics. The outcome can be employed to define and support rehabilitation in an evidence-based manner. This article presents the validation and research outcomes of using the tool for individuals with mild to moderately severe HL in contrast to normal-hearing individuals. Using a cross-sectional multicenter study, the tool was distributed among 215 participants in Germany, the USA, and Egypt, filled in German, English, or Arabic. Three outcome scores and the corresponding disability degree were defined: hearing-related, non-hearing-related, and speech-perception scores. The content and construct validation were conducted, and the tool's internal consistency was assessed. The extracted constructs included "Auditory processing functionality", "Sound quality compatibility", "Listening and communication functionality", "Interpersonal interaction functionality and infrastructure accessibility", "Social determinants and infrastructure compatibility", "Other sensory integration functionality", and "Cognitive functionality". Regarding content validity, it was demonstrated that normal-hearing participants differed significantly from individuals with HL in the hearing-related and speech-perception scores. The reliability assessment showed a high internal consistency (Cronbach's alpha = 0.9). The outcome demonstrated the HEAR-COMMAND tool's high content and construct validity. The tool can effectively represent the patient's perspective of HL and hearing-related functioning and enhance the effectiveness of the treatment plans and rehabilitation. The broad range of targeted concepts provides a unique overview of daily life hearing difficulties and their impact on the patient's functioning and quality of life.

Factors Influencing Intentions of People with Hearing Impairments to Use Augmented Reality Glasses as Hearing Aids.

The advent and progression of AR (augmented reality) technology, coupled with the emergence of AR hearing aid glasses, offer a novel opportunity for people with hearing impairments (PHI). This study aims to explore the intention of this population to employ AR hearing aid glasses as their choice of hearing aid device and the specific factors influencing their preference. This study utilized the partial least squares SEM (PLS-SEM) analytical method to create structural equation model for intentions of PHI to use AR glasses as hearing aids. Data were gathered from on-site experiences across multiple locations; a total of 189 valid questionnaires from individuals with varying degrees of hearing disabilities were used for statistical analysis. According to the data analysis results, we discovered that functionality quality, perceived interaction speed, and perceived usability significantly influence communication effectiveness. Further, communication effectiveness positively influences confidence and societal perception, and the latter has a positive impact on information. Both of these factors positively influence behavioral intention. Based on these findings, this study offers design recommendations for AR hearing aid glasses to cater to the specific needs of PHI, aiming to enhance their quality of life. Furthermore, this study provides pivotal insights for the prospective growth of this emerging industry.

Behavioural and neurodevelopmental characteristics of SYNGAP1

BackgroundSYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID.MethodsParticipants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4–16 years; 85% female) were matched (2:1) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and physical health questionnaires.ResultsOur results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons(p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p = .35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p = .49) or oppositional defiant disorder (7.7%;0%; p = .15).ConclusionFor the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management.

Investigating the Role of Hyper Density Signal Length in the Middle Cerebral Artery on the Degree of Disability of Arterial Ischemic Stroke Patients

Background: Intravenous alteplase is a drug treatment administered as an emergency measure within the early hours of patient admission. Objectives: This study aimed to determine the role of hyperdense signal length in the middle cerebral artery on the degree of disability in patients with arterial ischemic stroke who exhibit evidence of vascular involvement. Methods: In this cross-sectional study, patients with stroke who were referred to the emergency department of Imam Hossein Hospital in Tehran were included. The tools used were the demographic profile form and the Modified Rankin Scale (mRS). At the time of admission, the demographic profile form and the mRS tool were completed. The mRS tool was then administered again at discharge and 3 months after discharge. Following data collection, the patients' information was entered into SPSS version 16 software for analysis. Results: The results showed that there was no relationship between the patient's age and the disability score at admission (P = 0.11). However, at discharge and 3 months after discharge, the level of disability had a significant relationship with the patient's age, with younger patients reporting less disability. Additionally, after admission and thrombectomy, the patient's disability status significantly improved compared to the status at admission (P = 0.000). The mean ± SD mRS score at admission was 4.78 ± 0.44, while at discharge it was 3.94 ± 1.84. The mean ± SD disability score 3 months after discharge decreased from 4.78 ± 0.44 to 3.72 ± 2.25. This reduction compared to the discharge score was not statistically significant (P = 0.06). Conclusions: Older patients and those with higher middle cerebral artery (MCA) levels reported greater disability. Therefore, it is necessary to implement preventive measures to address this issue.

Blind lives: the sightless and society in early modern England

ABSTRACT The historiography on blindness in the early modern period has focused almost entirely on the condition itself, rather than the lived experiences of the blind. It is often suggested that before the modern age it is impossible to access their lives. This article challenges that assumption. The evidence, though fragmentary, is far richer than has been supposed. The article shifts the focus to the blind themselves: their emotional responses, experiences and lives, and the impact on their families. It demonstrates how the experience of blindness was shaped by factors such as age, social status, gender, occupation, and the degree of disability. The well-to-do found ways to adapt, while the poor faced a desperate struggle to survive. The blind continued to live among their neighbours, and through recovering their experiences we also gain a more nuanced picture of social attitudes across the early modern period.

Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study

BackgroundThis study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases.MethodsThis retrospective cross-sectional study enrolled patients diagnosed with mitochondrial diseases from the Department of Neurology at Peking University First Hospital between January 2010 and December 2021. A questionnaire covering demographic characteristics, diagnostic dilemma, treatment, economic aspects, and caregiver stress was administered, and disability was assessed using the modified Rankin Scale (mRS).ResultsA total of 183 patients (mean age: 16 (IQR: 12–25), 49.72% males) were enrolled, including 124 pediatric patients and 59 adult patients. MELAS (106. 57.92%) and Leigh syndrome (37, 20.22%) were predominant among the mitochondrial disease subtypes. Among them, 132 (72.13%) patients were initially misdiagnosed with other diseases, 58 (31.69%) patients visited 2 hospitals before confirmed as mitochondrial disease, and 39 (21.31%) patients visited 3 hospitals before confirmed as mitochondrial disease. Metabolic modifiers were the most common type of drugs used, including several dietary supplements such as L-carnitine (117, 63.93%), Coenzyme Q10 (102, 55.74%), idebenone (82, 44.81%), and vitamins (99, 54.10%) for proper mitochondrial function. Mothers are the primary caregivers for both children (36.29%) and adults (38.98%). The mRS score ranged from 0 to 5, 92.35% of the patients had different degrees of disability due to mitochondrial disease. The average monthly treatment cost was 3000 RMB for children and 3100 RMB for adults.ConclusionsThis study provided valuable insights into the characteristics and challenges of mitochondrial diseases, which underscores the need for improved awareness, diagnostic efficiency, and comprehensive support for patients and caregivers.

Systematic review and meta-analysis of Neck Disability Index and Numeric Pain Rating Scale in patients with migraine and tension-type headache.

The present study aimed to assess the burden of neck pain in adults with migraine and tension-type headache (TTH), utilizing the Neck Disability Index (NDI) and Numeric Pain Rating Scale (NPRS). A systematic literature search was conducted on PubMed and Embase to identify observational studies assessing NDI and NPRS in populations with migraine or TTH. The screening of articles was independently performed by two investigators (HMA and ZA). Pooled mean estimates were calculated through random-effects meta-analysis. The I2 statistic assessed between-study heterogeneity, and meta-regression further explored heterogeneity factors. Thirty-three clinic-based studies met the inclusion criteria. For participants with migraine, the pooled mean NDI score was 16.2 (95% confidence interval (CI) = 13.2-19.2, I2 = 99%). Additionally, the mean NDI was 5.5 (95% CI = 4.11-6.8, p < 0.001) scores higher in participants with chronic compared to episodic migraine. The pooled mean NDI score for participants with TTH was 13.7 (95% CI = 4.9-22.4, I2 = 99%). In addition, the meta-analysis revealed a mean NPRS score of 5.7 (95% CI = 5.1-6.2, I2 = 95%) across all participants with migraine. This systematic review and meta-analysis shows a greater degree of neck pain-related disability in migraine compared to TTH. Nevertheless, the generalizability of these findings is constrained by methodological variations identified in the current literature.

Dravet-like Syndrome with PCDH19 Mutations in Taiwan ― A Multicenter Study

ObjectiveProtocadherin-19 (PCDH19) epilepsy is a rare female restricted epilepsy syndrome with early onset seizures and developmental delay caused by a change or mutation of the PCDH19 gene on the X chromosome. SCN1A-negative patients with a Dravet-like phenotype may have a gene mutation in PCDH19. The aim of this case series was to characterize the phenotype of epileptic patients according to PCDH19 mutations, antiseizure medications, brain images and mutation types in Taiwan. MethodsWe retrospectively reviewed the medical records of patients with PCDH19 epilepsy from July 2017 to December 2021 from multiple centers in Taiwan. We analyzed the patients’ clinical data and genetic reports. ResultsFifteen female patients (age 3 to 23 years) were enrolled. Seizure onset was at 4 months to 2 years 7 months of age with generalized tonic-clonic or focal seizures. Seizure frequency tended to be in clusters rather than single longer seizures. The patients had varying degrees of intellectual disability, however 3 had no impairment. Two patients had abnormal brain images including mesial temporal sclerosis, subcortical and periventricular white matter lesions. On average, the patients received 4 antiseizure medications (range 3–6), including 9 patients who were seizure free, and 3 who received sodium channel blockers without aggravation. Missense and truncating variants (frameshift and nonsense variants) accounted for 40% and 46.7% of all mutations. The mutations of 13 patients were located on EC1 to EC4, and EC5 to cytoplasmic domain in 2 patients. SignificancePCDH19 epilepsy has distinct phenotypes and an unusual X-linked pattern of expression in which females manifest core symptoms. Psychiatric and behavioral problems are frequently part of the clinical picture. Patients are usually treated with a wide array of standard antiseizure medications, with no preferred antiseizure medication class. No strong correlations between phenotype and location of variant mutations were found in our patients.

Quality of Life Among Breast Cancer Patients in Mures County, Romania: A Cross-Sectional Study.

Background and aim Psychiatric pathology does not always start on its own but may be conditioned or triggered by a comorbidity with a high impact on the human psyche. When there are comorbidities, psychiatric pathology can occur due to the high diagnostic burden. Our study aims to find out if there is a correlation between the diagnosis of breast cancer and its severity,and psychiatric symptoms such as depressive mood, atypical anxiety, or even autolytic ideation that directly influence the quality of life of patients. Materials and methods The study is a prospective, cross-sectional, single-center study carried out between December 2023 and June 2024 at the Mureș County Clinical Hospital in Romania. The sample population had to be at least 18 years old and had to bediagnosed with breast cancer recently.We applied two tests, WHODAS 2 (World Health Organization's Disability Assessment Schedule 2.0) and level 1 (level 1 of cross-sectional measurements of symptoms), to be able to measure and aid assessment of mental health domains that are important across psychiatric diagnoses and also the degree of disability triggered by breast cancer. The statistical analysis included descriptive statistics and interferential statistics. Statistical tests, such as Shapiro-Wilk, Kruskal-Wallis, and Mann-Whitney U tests with Bonferroni correctiontests, were used.The p-value was set to 0.05 with a confidence interval (CI) of 95%. Results The study included 120 women diagnosed with breast cancer, with a mean age of 56.64 ± 9.46 years. Regarding the severity of the diagnosis, 44 women (36.66%) had non-invasive cancer, 58 (48.33%) had invasive cancer, and 18 (15%) had metastases.There was a statistically significant difference between three of the five selected level 1 domains across cancer types.The WHODAS 2.0 disability scores showed a significant difference between groups (p < 0.001). Subjects with non-invasive cancer had the lowest WHODAS 2.0 score, followed by the invasive group, while metastases had the highest score. Conclusions Following the application of the two tests, level 1 and WHODAS 2.0, to our group of subjects, statistically significant differences were observed between the three categories of subjects. The degree of disability and the occurrence of psychological symptoms differed according to the severity of breast cancer. Adapting to the status of an oncological patient entails multiple changes from a psycho-emotional, social, occupational, and professional point of view. Although the most recent medications prolong survival, a holistic approach that considers psychological aspects can improve patients' long-term results.

User Interface and Navigation System for an Electric Vehicle for the Disabled

The purpose of this work is to link a natural user interface and an autonomous navigation system to a conventional wheelchair with two control modalities: manual and automatic. It is taken into account that not all people have the same type or degree of disability, for this reason we seek to implement a user interface that involves different forms of user-machine interaction, with which the user can choose the manual mode that allows direct commands to control the movement of the chair and the automatic mode, which only needs the point or place where you need to go and through predefined trajectories, the autonomous navigation system will execute the necessary movements for the chair to follow the desired route.

Assessment of the degree of disability of the Polish NBIA-MPAN population based on a patient survey

Neurodegeneration with brain iron accumulation (NBIA) describes a group of extremely rare hereditary disorders with an estimated prevalence of 1–3/1,000,000. Mitochondrial membrane protein associated neurodegeneration (MPAN) is the third most common form of NBIA, accounting for 10% of NBIA cases globally and up to 50% of cases in Poland. This survey was conducted by the Association NBIA Poland to collect data on the functioning of patients with NBIA/MPAN based on self-reported EQ-5D-5L (EuroQoL 5-Dimension 5-Level) scores. A total of 50 patients living in Poland, including 26 patients with NBIA/MPAN, participated in the study. The mean age of NBIA/MPAN patients was 22 years; the mean age at symptom onset is 10 years. At the time of the survey, most patients were disabled and required assistance with daily activities. More than 50% of participants needed help with hygiene or dressing, and 40% were unable to walk on their own. Nearly 50% of patients declared symptoms indicating lowered mood. The survey showed that NBIA/MPAN leads to significant disability within a short period of time after symptom onset. Intensive work is underway to discover the role of the C19orf12 protein and develop therapeutic strategies. Actions are necessary to improve the comfort of everyday life of patients with NBIA/MPAN and to improve access to rehabilitation, including home-based programmes.

Estrogen Hormones' Implications on the Physiopathology of Temporomandibular Dysfunction.

Background/Objectives: Temporomandibular dysfunction syndrome consists of several disorders of the masticatory system, namely those of the muscles, the joint itself, as well as the dental and periodontal system. This syndrome is often characterized by pain and an inability to perform functions within the dental-maxillary apparatus, which creates a certain degree of disability in patients. Women are more susceptible to this syndrome than men and hormonal factors, particularly estrogen, are central to its etiology and physiopathology. Methods: A comprehensive literature search was conducted using PubMed/MEDLINE, Scopus, Embase, and Web of Science databases regarding articles published from January 2008 to December 2023. Two authors conducted searches in the mentioned databases based on a pre-established search strategy using agreed-upon keywords. Additionally, each review author performed the selection process of eligible studies based on established inclusion criteria. The Newcastle-Ottawa scale and Risk of Bias tool 2 were used to assess each article for its methodological quality. Results: Of the 1030 records found in the four bibliographic databases, 22 studies were included in this review. Polymorphism in the alpha estrogen receptor appears to be significantly more prevalent in women with temporomandibular dysfunction, suggesting a genetic predisposition. There is a significant role of estrogen in the physiopathology of TMD-related pain. Women with polycystic ovary syndrome (PCOS) have a significantly higher incidence of TMD, accompanied by elevated inflammatory factors and decreased progesterone levels. In premenopausal women, there is scientific relevance to the association between beta-estradiol levels and TMD development and progression. The effects of estrogen hormones on temporomandibular dysfunction remain highly debated and challenging. Conclusions: These findings emphasize the importance of considering hormonal factors, genetic predisposition, and reproductive life stages in understanding and managing temporomandibular dysfunction. Further research is needed to elucidate the specific mechanisms underlying these associations.

SENSITIVITY OF PLATELET-LYMPHOCYTE RATIO, MONOCYTE-LYMPHOCYTE RATIO, NEUTROPHIL-LYMPHOCYTE RATIO, RED BLOOD CELL DISTRIBUTION WIDTH AND SYSTEMIC IMMUNE INFLAMMATORY INDEX IN MULTIPLE SCLEROSIS PATIENTS: RELATIONSHIP WITH DISEASE SUBTYPES AND DISABILITY

OBJECTIVE: Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system (CNS). Although it is not clear how autoimmune responses occur, it is known that peripheral blood cells may promote the initiation and exacerbation of the inflammatory response in MS. The aim of this study was to evaluate the sensitivity and specificity of neutrophil-lymphocyte ratio (NLR), monocyte-lymphocyte ratio (MLR), platelet-lymphocyte ratio (PLR), erythrocyte distribution width (RDW) and systemic immune inflammation index (SIII) in MS and to determine their relationship with disability. MATERIAL AND METHODS: In this single-center, retrospective case-control study, 104 patients with MS and 65 healthy individuals were included. Disability was assessed with the Expanded Disability Status Scale (EDSS) score, and patients were classified as mild (EDSS&amp;lt;3), moderate (3.5 ≤ EDSS ≥4.5), and severe (EDSS≥5) disabilities. NLR, MLR, PLR, RDW and SIII values were calculated according to the complete blood counts of the patients and the control group. Inflammation markers between the control group and MS patients, MS subtypes, and relapsing-remitting MS (RRMS) attack and remission periods were compared. the relationship between these markers and duration of illness, number of attacks and disability was examined. RESULTS: MLR and RDW were higher in MS than the controls. There was no significant difference in these values between MS subtypes. It was observed that RDW increased as the disease duration, number of attacks and EDSS increased. CONCLUSIONS: In our study, in evaluating inflammation it was seen that MLR and RDW were more determinative than PLR, NLR and SIII. The fact that RDW is higher in MS patients and is affected by disease disability indicates that RDW may have an important role in the follow-up of MS patients and in evaluating the degree of disability.

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

NAA10-related (Ogden syndrome) and NAA15-related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 variants are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic (P) or likely pathogenic (LP) variants in the NAA10 cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with (L)P variants in the NAA15 cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in-person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified in the prevalence of these conditions between the NAA10 and NAA15 variants. Our study includes novel neuroimaging of 13 NAA10 and 5 NAA15 probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.

What is important in forensic psychiatric evaluation in people with Down syndrome? A sample from Türkiye

PurposeDown syndrome is one of the common genetic causes of intellectual disability. Adult with Down syndrome may have many psychiatric comorbidities. Therefore, their mental health status should be considered in legal proceedings such as criminal responsibility and legal capacity where they are involved. This study aims to highlight that individuals with Down syndrome are often referred directly to forensic psychiatry without undergoing an interview, despite the fact that this is a group with varied mental statuses.Design/methodology/approachThis study analysed the socio-demographic, clinical and forensic characteristics of eight adult individuals with Down syndrome for whom the Council of Forensic Medicine (CFM) requested an opinion on criminal liability and other legal situations between 2018 and 2022. The CFM is an authoritative institution to which cases from all areas of Türkiye are referred.FindingsThe mean age of the individuals with Down syndrome for whom a forensic psychiatric opinion was requested was 24.63 (±7.95) and the mean IQ level was 54.13 (±13.38). All cases were male, 6 / 8 were referred for assessment of criminal responsibility and 4 / 6 of those referred for assessment of criminal responsibility were referred for sexual offences. It was found that 5 / 8 of the cases had moderate intellectual disability and 3 / 8 of the cases had mild intellectual disability.Research limitations/implicationsRegarding the limitations of this study, the first one is the small sample size. Nevertheless, due to the low prevalence of people with Down syndrome in society, it is plausible that their stigmatization may not be reflected in the judicial system, even in cases involving violent behaviour. The second limitation is that the reports lack all psychiatric medical documents, including forensic psychiatric evaluations of individuals with Down syndrome. Additionally, additional diseases were recorded based on familial anamnesis. The third limitation is that this study is the first publication to investigate Down syndrome from a forensic psychiatric perspective. Thus, there is a lack of literature to make direct comparisons and references in the discussion section.Social implicationsThis is the first study about forensic psychiatric aspects for people with Down syndrome. The aim of this study was to examine the forensic psychiatric approach in Down syndrome, one of the most common genetic causes of intellectual disability, the situations in which forensic psychiatric assessment is required and the issues that might be considered important in this regard. Although there are various publications in the literature on the psychiatric conditions of individuals with Down syndrome, to our knowledge, this is the first study to evaluate individuals with Down syndrome in terms of forensic psychiatric evaluation. People with Down syndrome are known to have varying degrees of intellectual disability and different types of psychiatric comorbidity.Originality/valuePeople with Down syndrome are a heterogeneous group in terms of intellectual disability. The criminal responsibility and legal capacity of individuals may vary according to the legal situation. When requesting forensic psychiatric evaluation of these patients with psychiatric co-morbidity, patients should not be prejudged in terms of their level of mental competence and each case should be assessed individually.

Diagnostic Utility of Free Kappa Light Chain Index in Egyptian Multiple Sclerosis Patients

Abstract Background Multiple sclerosis (MS) is a chronic autoimmune-mediated demyelinating disease of the central nervous system (CNS) that is usually associated with varying degrees of progressive disability. Free Kappa light chain (FKLC) has attracted growing attention as a significant diagnostic marker of MS. Aim of the Work The aim of this work was to study the diagnostic utility of free kappa light chain index in a sample of Egyptian MS patients versus IgG oligo clonal bands (OCBs) in CSF and serum in an attempt to throw light on a new simpler non subjective potential diagnostic marker in MS. Patients and Methods This was a case control study of MS patients carried at Ain Shams University Hospitals during the period from January 2021 till January 2022. Subjects included in this study were 30 patients with symptoms suggestive of MS yet undiagnosed and 20 controls, on the basis of their MRI findings, clinical presentation and according to the revised McDonald criteria 2017. Accordingly, patients were diagnosed as MS including 4 CIS patients, 18 RRMS patients and 3 PPMS patients and non-MS including 2 NMO patients, 1 ADEM patient, 1 APS and 1 SLE patient. They were 8 males and 22 female patients, their age ranged from 20 to 40 years old with mean 30.13 ± 6.85 SD. The control group included 5 males and 15 females; their ages ranged from 20 to 40 years with mean 30.13 ± 6.85 SD. Results We found a statistically significantly higher FKLC index and FKLC IF among MS patients in comparison to both control and non-MS group. it could be used for diagnosis of MS with a diagnostic sensitivity of 100 % and a diagnostic specificity of 100 %. Conclusion The significant association between FKLC index and MS led us to conclude FKLC index can be used as a promising diagnostic marker of MS.

Managing Mental Health Challenges in Organizations: An Exploratory Study of the Problems of Misunderstanding, Invisibility and Responsibility

Despite the increasing number of workers worldwide experiencing mental disorders, many organizations lack knowledge and understanding of how to support them effectively. We argue that this is partially a consequence of three problems surrounding the management of mental health in organizations: misunderstanding, invisibility, and responsibility. This study aims to overcome misconceptions attached to those problems by providing empirical evidence on three issues: a) experiencing mental health challenges leads to inevitably experiencing a disability? b) to what extent do organizations know about their employees’ mental health challenges? c) do mental problems preclude employees from thriving at work and enjoying work-life balance? To do so, we analyze the disclosure of mental health conditions and the levels of anxiety, depression, disabilities, thriving at work, and work-life balance in a sample of 212 employees with and without a diagnosis of mental disorder. Our findings challenge some preconceived notions as they suggest that: a) suffering from a mental disorder does not always lead to higher disabilities, and, on the contrary, even non-diagnosed employees may experience high degrees of disabilities; b) mental health challenges are still notably invisible within organizations; and c) there seems to be an inverse relationship between the severity of mental problems and the degree of thriving at work and work-life balance. Accordingly, we propose future research avenues and practical recommendations to address the problems of misunderstanding, responsibility, and invisibility. Received: 16 March 2024 / Accepted: 29 June 2024 / Published: 02 July 2024

A Prospective Study of Contracture of the Finger and its Management in a Tertiary Care Center.

When the range of motion between two finger segments, both active and passive, is restricted, finger contracture occurs. The aim of this study is to investigate the best procedure to eliminate finger contracture and the functional and esthetic results of the different surgical procedures. A total of 31 patients with soft-tissue abnormalities of the hand were included in this prospective study. They underwent either contracture removal with K-wire and skin grafts or various flap procedures in the department of plastic surgery. Complaints of stiffness and discomfort were classified into five categories: none, mild, moderate, marked, and severe. The difficulty a person had in picking up objects, grasping, writing, etc., was used to determine the degree of disability. Absenteeism from work and surgical site infections were also recorded. The mean age was 20.25 years, with a mean age of 23.05 for men and 15.83 for women. Overall, most cases occurred in the age range of 3-10 years. For K-wire surgery with skin grafting, the typical time off work was 24 days. The average recovery time ranged from 15.2 days for skin grafts to 16.9 days for tenolysis, 28.33 days for groyne flaps, and 41 days for abdominal flaps. Of all cases, 12 (38.00%) had a fair result, 10 (31.04%) had a moderate result, and 9 (30.96%) had an excellent result. The most feasible method for treating these situations, which offers the greatest potential for a functional and cosmetic result, is contracture reduction with skin grafting.