Salivary IL-6 Concentration Is Associated with Frailty Syndrome in Older Individuals

Background: One of the physiological changes that is most closely associated with frailty is the increase in pro-inflammatory cytokines, and IL-6 in particular. Most studies have demonstrated this association using blood samples. We analyzed the relationship between frailty syndrome, individual frailty criteria, and IL-6 levels obtained by saliva tests. Methods: A cross-sectional pilot study was performed among women institutionalized in nursing homes. Frailty was defined as having three or more of the following components: low lean mass, weakness, self-reported exhaustion, low activity level, and slow walking speed; prefrailty was defined as having one or two of those components. Results: There was a significant and positive correlation between the frailty score and salivary IL-6 concentration. Regarding the associations between IL-6 and individual dichotomized frailty criteria, there were significant differences in salivary IL-6 concentration in two frailty criteria: weight loss (p = 0.002) and low physical activity (p = 0.007). Receiver operating characteristic curve analysis showed that IL-6 concentration significantly (p < 0.05) (although moderately) discriminated patients that progressed in the frailty syndrome (the area under the curve value was 0.697 with 95% CI 0.566–0.827). Conclusions: Salivary IL-6 concentration can be used as potential biomarker of frailty syndrome and as a tool to monitor the effects of interventions in frail individuals.

Individual factors that cause professional burnout syndrome in social workers, employed in community rehabilitation centre for addictive diseases

At the theoretical and empirical levels, the article reveals individual factors that cause professional burnout syndrome in social workers, employed in community rehabilitation centre for addictive diseases. Addiction is considered a disease that has aspects of biological, psychological, social, and spiritual nature. Professional burnout syndrome can be understood from different points of view that in total comprise a general concept and consist of the following aspects: emotional exhaustion, depersonalization, and decrease in self-realization. Research object is individual factors that cause professional burnout syndrome in social workers, employed in community rehabilitation centres for addictive diseases. The aim of the article is to reveal individual factors that cause professional burnout syndrome in social workers, employed in community rehabilitation centre for addictive diseases. Tasks: 1) to provide theoretical assumptions about individual factors that cause professional burnout syndrome; 2) based on experiences of social workers to reveal individual factors that cause professional burnout syndrome in social workers, employed in community rehabilitation centre for addictive diseases. Research methods are academic literature analysis, document analysis, and qualitative research. In the study, semi-structured interviews, quality (content) analysis, summarizing method were used.Empirical research revealed that individual factors that cause the development of professional burnout syndrome in social workers, employed in community rehabilitation centres for addictive diseases, are related to: employees’ feelings of inferiority and imposition of excessive requirements on themselves (timidity, self-devaluation; feeling of guilt; lack of self-evaluation skills and imposition of excessive requirements on oneself); personal qualities (too much empathy, attachment to clients or doubts about the meaning of work); individual factors related to the environment (having nobody to talk to about problems, inability to change the environment, prolonged stress, narrowing of interests outside work, and forced abandonment of activities that previously preventively helped to combat professional burnout syndrome). Individual factors related to clients (collapse of hopes to help the client and excessive responsibility of the social worker for the client’s life). Participants of the research became “inaccessible” to family members, were unable to distance themselves from work stress (worries outside work, obsessive thoughts that hinder dissociation from work, inability to relax, use of free time for work activities); felt a lack of general and professional competencies.

Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature

Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The precise genotype-phenotype correlations of different deletions has not been completely resolved. Ascertaining individuals with overlapping deletions and complex phenotypes may help to identify causative genes and improve understanding of 12q deletion syndromes. We here describe two individuals with non-overlapping 12q14 deletions encountered at our clinical genetics outpatient clinic and perform a review of all previously published interstitial 12q deletions to further delineate genotype-phenotype correlations. Both individuals presented with a neurodevelopmental disorder with various degrees of intellectual disability, failure to thrive and dysmorphic features. Previously, larger deletions overlapping large parts of the deletions encountered in both individuals have been described. Whereas, individual 1 seems to fit into the previously described phenotypic spectrum of the 12q14 microdeletion syndrome, individual 2 displays more severe neurological symptoms, which are likely caused by haploinsufficiency of the BAF complex member SMARCC2, which is included in the deletion. We furthermore perform a review of all previously published interstitial 12q deletions which we found to cluster amongst 5 regions on chromosome 12, to further delineate genotype-phenotype correlations, and we discuss likely disease relevant genes for each of these deletion clusters. Together, this expands knowledge on deletions on chromosome 12q which might facilitate patient counseling. Also, it illustrates that re-analysis of previously described microdeletions syndromes in the next generation sequencing era can be useful to delineate genotype-phenotype correlations and identify disease relevant genes in individuals with neurodevelopmental disorders.

ANALISIS PENGARUH FAKTOR BURNOUT SYNDROME: INDIVIDUAL EFFORT FACTORS, ORGANIZATIONALS EFFORT FACTORS, DAN WORK ENVIRONMENT EFFORT FACTORS TERHADAP JOB SATISFACTION PADA PERAWAT DI RSUD RATU ZALECHA MARTAPURA (MASA PANDEMI COVID-19)

Abstrak : Penelitian ini bertujuan untuk mengetahui baik secara parsial dan simultan seberapa besar Pengaruh Faktor Burnout Syndrome: individual Effort Factors, Organizational Effort Factors, dan Work Environtment Effort Factors terhadap Job Statisfaction Pada Perawat di RSUD Ratu Zalecha Martapura (Masa Pandemi Covid19). Metode yang digunakan dalam penelitian ini adalah metode kuantitatif dan dengan populasi sebanyak 140 (tujuh puluh tiga), diambil sampel dengan teknik stratified random sampling sebanyak 104 (seratus empat) orang, instrument penelitian uji validitas dan uji reliabilitas, data – data diuji dengan menggunakan regresi linear berganda. Hasil penelitian ini menunjukkan bahwa Hasil penelitian menyatakan bahwa Individual Effort Factor menjadi faktor yang paling dominan terhadap peningkatan kepuasan kerja perwat. R Square sebesar 0,484 yang berarti besarnya variasi sumbangan seluruh variabel bebas terhadap variabel terikatnya adalah 48,4% sedangkan sisanya 51.6% dijelaskan oleh sebab lain diluar dari penelitian ini. Kata Kunci : Burnout Syndrome, Individual Effort Factors, Organizational Effort Factors, Work Environtment Effort Factors, Job Statisfaction.

Sensory Processing in Williams Syndrome: Individual differences and changes over time

This study examined individual differences as well as the development of sensory processing difficulties in children with Williams syndrome (WS) using a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). In Experiment 1, a clustering approach of sensory processing scores suggested two groups. Experiment 2 showed that the clusters identified in Experiment 1 were not stable across development, especially for those with high sensory impairments at either time point. Yet, most children experienced high impairments in sensory registration at both time points, suggesting impaired registration is a core phenotype of sensory processing in children with WS across development. Possible mechanisms, limitations and implications are discussed.

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. Case presentation A two-year-old boy was diagnosed with Joubert syndrome by global development delay and molar tooth sign of mid-brain. Whole exome sequencing was performed to detect the causative gene variants in this individual, and the candidate pathogenic variants were verified by Sanger sequencing. We identified two pathogenic variants (NM_006346.2: c.1147delC and c.1054A > G) of PIBF1 in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance. Conclusion In this study, we identified two novel pathogenic variants in PIBF1 in a Joubert syndrome individual using whole exome sequencing, thereby expanding the PIBF1 pathogenic variant spectrum of Joubert syndrome.

Implementation For Augmentative And Alternative Communication (AAC) Tools For Rett Syndrome Individual In Activities Of Daily Living (ADL)

Rett Syndrome occurs between one in 10000 to 15000 girls in Indonesia. In Hasan Sadikin Hospital, Bandung, Indonesia, there is a girl suffering from Rett Syndrome. Doctors in Hasan Sadikin Hospital find a lot of difficulties in communicating with the patient, since Rett Syndrome patients has little-to-no speech capabilities, and their hands often move involuntarily, especially with regards to Activities of Daily Living (ADL). Hence, a method to communicate with Rett Syndrome patient is being proposed using Augmentative and Alternative Communication (AAC) to support communication between the caregiver and the patient. Two of those methods are using gaze-tracking and head-pose. The methods tested consists of head-pose algorithm, gaze-tracking with Dlib, gaze-tracking with Haar Cascades, and EyeTribe. Each method is tested first with normal people before being tested with the patient. EyeTribe, head-pose, and gaze-tracking algorithm using Dlib achieve good results, with the best results being at 50cm distance and with high light intensity, however the Rett Syndrome patient achieves poor results when using the application, although head-pose achieves the best results in terms of determining needed ADL at around 45% accuracy. Hence, the Rett Syndrome patient needs training to use the application properly.