Abstract Background Leber congenital amaurosis (LCA) is one of the earliest-onset and most severe forms of inherited retinal disease, and Bardet-Biedl syndrome (BBS) is a rare non-motile primary ciliopathy with a diverse multi-organ phenotype. To our knowledge, we present the first reported genetically confirmed case of LCA10 co-occurring with isolated postaxial polydactyly type A1 harboring CEP290 and GLI3 mutations, which was initially misdiagnosed as BBS. Case presentation A 6-month-old female infant presented with no visual tracking, nystagmus, and postaxial polydactyly. Targeted gene panel testing identified compound heterozygous pathogenic variants in CEP290, leading to a preliminary diagnosis of BBS. Over a 6-year follow-up, the patient developed progressive pigmentary retinopathy with non-recordable electroretinography but did not develop any other systemic features of BBS. A critical, previously overlooked family history of polydactyly in the father prompted further investigation. Whole-exome sequencing revealed an additional likely pathogenic variant in the GLI3 gene, which was paternally inherited and responsible for the isolated polydactyly. The ocular phenotype was definitively attributed to the CEP290 mutations. A final diagnosis of LCA Type 10 (LCA10) with postaxial polydactyly type A1 was established. Conclusions This case illustrates the novel co-occurrence of two distinct genetic disorders: CEP290-associated LCA10 and GLI3-associated isolated polydactyly. The initial diagnostic challenge underscores the complexity of pediatric inherited retinal diseases and highlights several critical lessons. The importance of longitudinal phenotyping, the necessity of a detailed family history, and the superior diagnostic utility of comprehensive genetic testing like whole-exome sequencing over targeted panels in complex presentations. Accurate differentiation between LCA and syndromic ciliopathies like BBS is crucial for prognostic counseling and management, as LCA10 carries a more favorable systemic prognosis and is now a target for emerging gene therapies.
Eman S Almabadi,1 Doaa Felemban,2 Razan Khalid Alekhmimi,3,4 Muntasir Adnan Aynusah,4 Alla Alsharif,1 Nebras Althagafi,1 Saba Kassim1 1Department of Preventive Dental Sciences, Taibah University, College of Dentistry, Al-Madinah Al-Munawwrah, 42353, Saudi Arabia; 2Department of Oral and Maxillofacial Diagnostic Sciences, Taibah University, College of Dentistry, Al-Madinah Al-Munawwarah, 42353, Saudi Arabia; 3Medical Administration Department,Taibah University, College of Dentistry, Al-Madinah Al-Munawwarah, 42353, Saudi Arabia; 4Department of Dental Surgery, Healthcare Quality and Patient Safety, Ministry of Health, Al-Madinah Al-Munawwarah, 42394, Saudi ArabiaCorrespondence: Eman S Almabadi, Department of Preventive Dental Sciences, Taibah University, College of Dentistry, Prince, Naif Ibn Abdulaziz, Al-Madinah Al-Munawwrah, 42353, Saudi Arabia, Email emabadi@taibahu.edu.saObjective: This study aimed to assess the association between sleep bruxism (SB) among children and parental sociodemographic characteristics and SB risk factors (eg, nose obstruction).Methods: A cross-sectional survey was conducted with 250 parents of children under the age of 13 who visited pediatric dental clinics. Data were collected through a questionnaire completed by parents. Sociodemographic characteristics, the child’s medical history, sleep patterns and parents’ awareness of bruxism and its symptoms were investigated. Descriptive, bivariate and binary logistic regression analyses were performed.Results: The response rate was 85.2% (55% females, 45% males) and 25.8% of the parents self-reported that their children had bruxism. The regression analysis revealed that parents reporting SB among their children were significantly more likely to have SB themselves (8.62 [3.68– 20.16], p = 0.001). While children whose mothers had lower education level and were unaware of bruxism-related symptoms (such as teeth, jaw, or face pain) were less likely to be reported as having SB (0.35 [0.16– 0.75], p = 0.007; 0.36 [0.14– 0.97], p = 0.043, respectively). Parents who identified nose obstruction as a cause of bruxism also had children with a higher likelihood of having SB (5.49 [1.04– 29.08], p = 0.045).Conclusion: The findings highlighted that parental sociodemographic characteristic and SB risk factors associated signficantly with the prevalence of childhood SB.Keywords: sleep bruxism, children, parental sociodemographic factors, Saudi Arabia
Bezabih Fikire, Tagesse Sedoro, Habtamu Hasen
et al.
Abstract Background Globally, the HIV pandemic makes preconception care even more crucial due to the additional risks for sexual and vertical transmission of HIV. However, there is limited evidence on the utilization of preconception care among high-risk women in Ethiopia. The purpose of this research is to assess preconception care utilization and associated factors among HIV-positive women of reproductive age who attend ART clinics in public hospitals in the Hadiya zone of Southern Ethiopia in 2023. Methods A cross-sectional study design employing a mixed methods approach was used among 297 study participants from July 1-Semptember 1, 2022. Data were collected by pretested structured questionnaires. The data were analyzed by SPSS statistical software version 25. Logistic regression, Adjusted Odds Ratio (AOR) with a 95% confidence interval was computed, and variables with a p-value < 0.05 were considered statistically significant. Qualitative data were analyzed using open code version 4.03. Results This study revealed that 19.9% (95%Cl: 15.4, 24.2) of study participants use preconception care. Women’s autonomy (AOR = 3.65; 95% CI: 1.14, 11.68;P = 0.03), knowledge of PCC (AOR = 3.05; 95% CI: 1.13, 8.22; P = 0.001), getting family/husband support (AOR = 4.06; 95% CI: 1.56, 10.53;P = 0.022), discussions with healthcare providers (AOR = 5.60; 95% CI: 2.26, 13.90;P = 0.002), availability of room for PCC (AOR = 3.77; 95% CI: 1.38, 10.31;P = 0.009), getting all laboratory services (AOR = 4.19; 95% CI: 1.61, 10.94; P = 0.002), and history of medical problems (AOR = 2.94; 95% CI: 11.01, 8.62;P = 0.036) were significantly associated with PCC use. Conclusion The level of PCC use in the current study area is low. Women’s autonomy, knowledge of PCC, obtaining support from family or husband, engaging in discussions with healthcare providers, having access to a PCC room, access to all laboratory services, and having a history of medical problems are significantly associated with PCC use. Our findings suggest integrating PCC into routine HIV care, boosting women’s autonomy, and integrating family support with healthcare providers.
This study aims to assess satisfaction with the quality of education in educational institutions in Algeria and to determine the factors that significantly influence it. The study was based on a survey of inspectors representing the primary control body for educational institutions in Algeria. The questionnaire contained questions based on which the inspectors assessed the quality of education in 1,101 schools (representative sample). A three-point Likert scale was used to evaluate inspectors' agreement with the statements included in the questionnaire. The questionnaire consists of 7 factors that characterize the quality of the professional development of pedagogical workers, the educational program, textbooks, the educational process, the conditions of school education, the evaluation process, and the effectiveness of the teacher's work. Correspondence of the data to the normal law of distribution was confirmed with the help of SENWEKS (asymmetry coefficient/skewness coefficient) and KIRTOSIS (variation coefficient or excess) indicators. The reliability of the research tools and the possibility of relying on the questionnaire data were confirmed using Cronbach's alpha coefficient and validity - using the overall internal consistency coefficient. The internal consistency reliability of the questionnaire was confirmed using Pearson's linear correlation coefficients between the factors and the total score of the questionnaire. The study proved that the factors of the quality of education, with the highest level of satisfaction expressed by the respondents, were the quality of educational programs (inspectors have a favourable opinion about the educational content, considering it relevant and well structured) and textbooks (inspectors appreciate the clarity and richness of the content of the textbook, emphasizing its essential role in student learning), while they were the least satisfied with the quality of learning conditions (inspectors point to a lack of educational resources, inadequate infrastructure and a large number of students in the classroom). One-sample Student's t-test (one-sample T-Student Test) was used to identify the factors that have the most significant impact on measuring the quality of education in educational institutions in Algeria. The most important factors were the effectiveness of the teachers, the quality of the curriculum and the quality of the textbooks. The research emphasizes the importance of continuous learning and adequate support for teachers.
Sociology (General), Economic history and conditions
Abstract Chapter 5, dedicated to health, discusses and verifies the function and accessibility of health care. The requirement to remain healthy fundamentally conditioned the labour capacity of the workers and emphasised the importance of preventive and curative health care. The general availability of health care was one of the conditions of the labour capacity of the population, and, therefore, maintaining the health of the population was one of the main priorities of the occupation’s policies. Under the Nazi Protectorate, health became a regular topic with the campaign against infectious diseases, the propagation of basic rules of hygiene, and the creation of a network of nursing and medical facilities, etc. During the occupation, the institutional framework underwent a fundamental change, and measures to stop the spread of infectious diseases were improved. One of the main trends that emerged was increased economic and organisational pressure on Protectorate insurance companies and the strong disciplinary demand placed on doctors and patients. The chapter concludes with a discussion of the Czech expertise on occupational medicine.
Alexa S. Tyszka, Eric C. Bretz, Holly M. Robertson
et al.
Chloroplasts and mitochondria each contain their own genomes, which have historically been and continue to be important sources of information for inferring the phylogenetic relationships among land plants. The organelles are predominantly inherited from the same parent, and therefore should exhibit phylogenetic concordance. In this study, we examine the mitochondrion and chloroplast genomes of 226 land plants to infer the degree of similarity between the organelles’ evolutionary histories. Our results show largely concordant topologies are inferred between the organelles, aside from four well-supported conflicting relationships that warrant further investigation. Despite broad patterns of topological concordance, our findings suggest that the chloroplast and mitochondrial genomes evolved with significant differences in molecular evolution. The differences result in the genes from the chloroplast and the mitochondrion preferentially clustering with other genes from their respective organelles by a program that automates selection of evolutionary model partitions for sequence alignments. Further investigation showed that changes in compositional heterogeneity are not always uniform across divergences in the land plant tree of life. These results indicate that although the chloroplast and mitochondrial genomes have coexisted for over 1 billion years, phylogenetically, they are still evolving sufficiently independently to warrant separate models of evolution. As genome sequencing becomes more accessible, research into these organelles’ evolution will continue revealing insight into the ancient cellular events that shaped not only their history, but the history of plants as a whole.
Del Carmen Encinas Reguero, M.; Quijada Sagredo, M. (eds) (2021). Tragic Rhetoric. The Rhetorical Dimensions of Greek Tragedy. Roma: Aracne. Le Rane Studi 69, 412 pp.
Greek language and literature. Latin language and literature, History of the Greco-Roman World
Guliz Senormanci, Cetin Turan, Omer Senormanci
et al.
The aim of the study was to compare psychiatric symptoms, burnout, hopelessness and depression between first-degree caregivers of dependent patients and control groups and to investigate the relation between emotional expression, psychiatric symptoms, burnout, hopelessness, depression and clinical features in relatives of the dependent group. The sample consisted of 40 participants who were primary caregiving relatives of dependent patients with history of at least one year dependence and being treated for dependence in in-patient or out-patient clinics and 40 participants with similar age, education year, gender, and marital status with relative group and with no history of psychiatric admission. Written informed consent was provided and demographic data form, Symptom Checklist-90-Revised (SCL-90-R), Beck Depression Scale (BDS), Beck Hopelessness Scale (BHS), Maslach Burnout Inventory (MBI) were administered. Expressed Emotion Scale (EES) was only administered in relatives of the dependent group. In the present study, negative expectation score and total score of BHS were significantly higher than the control group in relatives of dependent patients. SCL-90-R somatization, interpersonal sensitivity, depression, anxiety and additional scales scores of the relatives of dependent patients were significantly higher than the control group. There was a positive correlation between the education year and the EES subscales and total scores. There was a positive correlation between the EES overprotective attitudes and total score of BHS. There was a negative correlation between BHS total score and the EES judgmental/hostile attitudes and additional scales.As a result, being relatives of patients with dependence was found to be associated with burnout, depression, hopelessness, and the risk of developing mental illness. [JCBPR 2019; 8(1.000): 33-42]
Didier Cataldo,1 Jean-Louis Corhay,1 Eric Derom,2 Renaud Louis,1 Eric Marchand,3,4 Alain Michils,5 Vincent Ninane,6 Rudi Peché,7 Charles Pilette,8 Walter Vincken,9 Wim Janssens10 1Department of Respiratory Diseases, CHU Liège, University of Liège, Liège, 2Department of Respiratory Medicine, Ghent University Hospital, Ghent, 3Department of Respiratory Medicine, CHU – UCL – Namur, Université catholique de Louvain, Yvoir, 4Molecular Physiology Research Unit (URPhyM)-NARILIS, Laboratory of General Physiology, University of Namur, Namur, 5Chest Department, Erasme University Hospital, Université Libre de Bruxelles, Brussels, 6Department of Respiratory Medicine, University Hospital Saint-Pierre, Université Libre de Bruxelles, Brussels, 7Department of Respiratory Medicine, University Hospital Vésale, Montigny-le-Tilleul, 8Department of Respiratory Medicine, Cliniques universitaires St Luc, Université Catholique de Louvain, Brussels, 9Respiratory Division, University Hospital Brussels (UZ Brussel), Vrije Universiteit Brussel, Brussels, 10Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium Introduction: Patients with chronic airway disease may present features of both asthma and COPD, commonly referred to as asthma–COPD overlap syndrome (ACOS). Recommendations on their diagnosis are diffuse and inconsistent. This survey aimed to identify consensus on criteria for diagnosing ACOS.Methods: A Belgian expert panel developed a survey on ACOS diagnosis, which was completed by 87 pulmonologists. Answers chosen by ≥70% of survey respondents were considered as useful criteria for ACOS diagnosis. The two most frequently selected answers were considered as major criteria, others as minor criteria. The expert panel proposed a minimal requirement of two major criteria and one minor criterion for ACOS diagnosis. Respondents were also asked which criteria are important for considering inhaled corticosteroids prescription in a COPD patient.Results: To diagnose ACOS in COPD patients, major criteria were “high degree of variability in airway obstruction over time (change in forced expiratory volume in 1 second ≥400 mL)” and “high degree of response to bronchodilators (>200 mL and ≥12% predicted above baseline)”. Minor criteria were “personal/family history of atopy and/or IgE sensitivity to ≥1 airborne allergen”, “elevated blood/sputum eosinophil levels and/or increased fractional exhaled nitric oxide”, “diagnosis of asthma <40 years of age”; “symptom variability”, and “age (in favor of asthma)”. To diagnose ACOS in asthma patients, major criteria were “persistence of airflow obstruction over time (forced expiratory volume in 1 second/forced vital capacity ratio <0.7)” and “exposure to noxious particles/gases, with ≥10 pack-years for (ex-)smokers”; minor criteria were “lack of response on acute bronchodilator test”; “reduced diffusion capacity”; “limited variability in airway obstruction”; “age >40 years”; “emphysema on chest computed tomography scan”.Conclusion: Specific criteria were identified that may guide physicians to a more uniform diagnostic approach for ACOS in COPD or asthma patients. These criteria are largely similar to those used to prescribe inhaled corticosteroids in COPD. Keywords: ACOS, airway obstruction, asthma, COPD, diagnosis, inhaled corticosteroids
A case report of a 2-year-old female satin guinea pig with a history of dental overgrowth and lameness and radiological lesions of fibrous osteodystrophy is presented. The most relevant clinical findings were bone demineralization, high level of parathyroid hormone (PTH), normophosphatemia, normal ionized calcium, and low total thyroxine (tT4) with a normal renal function. Long-term treatment was based on teeth coronal reduction and maintaining a balanced diet. PTH measurement was performed with a kit suitable for rats to test 4 different paired samples of guinea pigs and resulted in similar results for each pair of measurements. Two kits routinely employed in dogs and cats failed in measuring PTH in guinea pig serum samples. The ionized calcium, PTH, and tT4 values, not previously reported in similar cases, were obtained. The determination of tT4 could be useful in the diagnosis of fibrous osteodystrophy in guinea pigs. The observed findings show similarity with human pseudohypoparathyroidism type Ia, a disease caused by an inactivating heterozygous mutation of the stimulatory G protein α subunit from the maternal genome that induces multiple hormone resistance and that courses with a syndrome called Albright hereditary osteodystrophy. Naturally occurring pseudohypoparathyroidism in animals has been reported previously only in a ferret.
In the article the authors confront the meanings of two Hebrew verb forms and their translations in biblical Greek and modern translations. It is the verb form 'ehyèiz in Ex 3:14, and its negation lö'-'ehyè in Hosea 1:9. These verb forms can be translated in the Croatian language as Ja jesam (I am) and Ja nisam (I am not) in the absolute sense. The study aims to shed light on the historical, philological and theological relations of the positive (Ex 3:14) and negative formulation (Hosea 1:9). In the Old Testament the Lord's absolute "I AM" has its foundation in the experience of the chosen people, it appears in key moments in Israel's history and is directed to the holy name of God. In Ex 3:14, God appeared to Moses as 'ehyè 'ášer 'ehyè (I AM WHO I AM), which the Septuagint translated into Greek as egō eimi ho ōn (I AM HE WHO IS). The Hebrew construction is cryptic and difficult to translate. Since it is almost impossible to determine the correct translation only from the morphosyntactic analysis, biblical scholars resort to the context in which the cryptic words are spoken. Although the traditional translation is "I AM WHO I AM," in recent years biblical scholars are increasingly opting for the future aspect of translation. In this paper, special attention will be directed toward this translation in the future tense and the question of its legitimacy. When talking about the Septuagint translation, in Ex 3:14 the translator opted for the present aspect. Because the Greek present as imperfect tense in a way already includes the future aspect. It follows that the LXX translation in the present tense has its foundation not only in philosophy and later theologizings as is commonly thought, but it also has its philological justification. When we talk about the book of the prophet Hosea the absolute "I AM" appears in the negative form, 'änökî lö'-'ehyè (Gk. egō ouk eimi - I am not). The prophet is almost certainly referring to Ex 3:14 to show the addressees, the inhabitants of the Northern Kingdom, that they suffered a fate contrary to the one that befell their ancestors while exiting Egypt. It follows that God's name "I AM" within the book of Exodus has a historical-salvational function, while within the book of the prophet Hosea it takes on a historical-destructive function.