Confining Flux Tubes in a Current Algebra Approach

We describe flux tubes and their interactions in a low energy sigma model induced by $SU({N_f}) \rightarrow SO({N_f})$ flavor symmetry breaking in $SO(N_c)$ QCD. Unlike standard QCD, this model allows gauge confinement to manifest itself in the low energy theory, which has unscreened spinor color sources and global $Z_2$ flux tubes. We construct the flux tubes and show how they mediate the confinement of spinor sources. We further examine the flux tubes' quantum stability, spectrum and interactions. We find that flux tubes are Alice strings, despite ambiguities in defining parallel transport. Furthermore, twisted loops of flux tube support skyrmion number, just as gauged Alice strings form loops that support monopole charge. This model, while phenomenologically nonviable, thus affords a perspective on both the dynamics of confinement and on subtleties which arise for global Alice strings.Comment: 29 pages (REVTEX) plus 6 figures, two corrections in the final section and added reference

Medication risk communication with cancer patients in a Middle East cancer care setting

Purpose: Cancer treatments are frequently associated with adverse effects, but there may be a cultural reluctance by care providers to be forthcoming with patients regarding these risks for fear of promoting nonadherence. Conversely, research in a number of countries indicates high levels of patient desire for this information. We sought to explore cancer patient experiences, satisfaction, and preferences for medication risk communication in a Middle East care setting. Methods: We developed and administered a ten-item questionnaire (Arabic and English) to a convenience sample of consenting adult patients receiving treatment at the National Center for Cancer Care and Research in Qatar. Results: One hundred and forty-three patients were interviewed. Most (88%) stated that the level of side effect information they received was sufficient, with physicians (86%) followed by pharmacists (39%) as the preferred sources. The majority (97%) agreed that knowing about possible side effects would help them recognize and manage the reaction, and 92% agreed that it would help them understand how to minimize or prevent the risks. Eighteen percent indicated that this information would make them not want to take treatment. Two-thirds (65%) had previously experienced intolerance to their cancer treatment regimen. Conclusion: Most patients surveyed expressed preference for the details of possible side effects they may encounter in their treatment. However, one in five considered such information a factor for nonadherence, indicating the need for patient-specific approaches when communicating medication risks.Undergraduate Research Experience Program award (UREP 14-001-3-001) from the Qatar National Research Fund (a member of Qatar Foundation)

Risk communication with Arab patients with cancer: a qualitative study of nurses and pharmacists

Objectives To explore pharmacist and nurse views and experiences in educating patients regarding their treatment safety and tolerability as well as the roles of other professions in this regard. Design In this qualitative study, six focus group discussions were conducted. Setting The National Center for Cancer Care and Research in Qatar. Participants Eleven pharmacists and 22 nurses providing direct patient care. Results Concepts related to three key themes were drawn from the seeding questions and included factors for determining the level of risk they communicated: the specific treatment regimen in question; the patient; and their assessment of the patient. Patient-related considerations arose from additional subthemes; both nurses and pharmacists described aspects related to the perceived psychological health status of the patient, as well as anticipated comprehension, as ascertained by demonstrated education and language abilities. In all discussions, it was noted that physician and family non-disclosure of cancer diagnosis to the patient profoundly influenced the nature of information they provided. While a high level of cohesion in safety communication prioritisation among these two health disciplines was found, a number of pharmacists asserted a more formal role compared to informal and repeated teaching by nurses. Conclusions Nurses and pharmacists in this Middle East healthcare environment were not reluctant to discuss treatment side effects with patients and draw on similar professional judgements in prioritising treatment risk information. We found that they did not always recognise each other's informal educational encounters and that there are opportunities to explore increased collaboration in this regard to enhance the patient care experience.Undergraduate Research Experience Program award (UREP 14-001-3-001) from the Qatar National Research Fund (a member of Qatar Foundation)

Medication Risks Communication in Middle East Cancer Patients

Background: Cancer treatments are frequently associated with adverse effects, but there may be a cultural reluctance by care providers to be forthcoming with patients regarding these risks for fear of promoting non-adherence. Conversely, research in a number of countries indicates high levels of patient desire for this information. We sought to pharmacist and nurse views and experiences in educating patients regarding their treatment safety and tolerability as well as the roles of other professions in this regard and to explore cancer patient experiences, satisfaction, and preferences for medication risk communication in this Middle East care setting. Design: In this mixed methods study, six focus group discussions of nurses and pharmacists were conducted were conducted at the National Center for Cancer Care and Research (NCCCR) in Qatar during 2015. Additionally/secondly, a 10-item questionnaire (Arabic, English) was developed and administered to a convenience sample of consenting adult patients receiving treatment at NCCCR. Ethics approval was obtained from both Hamad Medical Corporation and Qatar University Institutional Review Boards. Results: Focus group Eleven pharmacists and 22 nurses providing direct patient care participated. Concepts related to three key themes were drawn from the seeding questions and included factors for determining the level of risk they communicated: the specific treatment regimen in question; the patient; and their assessment of the patient. Patient-related considerations arose from additional subthemes; both nurses and pharmacists described aspects related to the perceived psychological health status of the patient, as well as anticipated comprehension, as ascertained by demonstrated education and language abilities. In all discussions, it was noted that physician and family non-disclosure of cancer diagnosis to the patient profoundly influenced the nature of information they provided. While a high level of cohesion in safety communication prioritization among these two health disciplines was found, a number of pharmacists asserted a more formal role compared to informal and repeated teaching by nurses. Survey: One hundred and forty three patients were interviewed (15 of whom were Qatari). Most (88%) stated the level of side effect information they received was sufficient, with physicians (86%) followed by pharmacists (39%) as the preferred sources. The majority (97%) agreed that knowing about possible side effects would help them recognize and manage the reaction and 92% agreed it would help them understand how to minimize or prevent the risks. Overall, eighteen percent indicated this information would make them not want to take treatment,but some regional differences among patients emerged (37.5% Gulf Coast Country-origin vs 15.8% Middle East North Africa-origin, p = 0.029, vs 12.1% Phillipines, p = 0.030) Two-thirds (65%) had previously experienced intolerance to their cancer treatment regimen. Conclusions: Nurses and pharmacists in this Middle East healthcare environment were not reluctant to discuss treatment side effects with patients and draw on similar professional judgements in prioritising treatment risk information. We found that they did not always recognise each other's informal educational encounters and that there are opportunities to explore increased collaboration in this regard to enhance the patient care experience. Most patients surveyed expressed preference for the details of possible side effects they may encounter in their treatment. However, one in five considered such information a factor for non-adherence indicating the need for patient-specific approaches when communicating medication risks.qscienc

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants. Using exome sequencing and extensive international genetic data sharing, 39 unpublished affected individuals from 18 independent families with biallelic missense variants in MED27 have been identified (29 females, mean age at last follow-up 17 ± 12.4 years, range 0.1-45). Follow-up and hitherto unreported clinical features were obtained from the published 12 families. Brain MRI scans from 34 cases were reviewed. MED27-related disease manifests as a broad phenotypic continuum ranging from developmental and epileptic-dyskinetic encephalopathy to variable neurodevelopmental disorder with movement abnormalities. It is characterized by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%), dystonia (61%), variably combined with epilepsy (50%), limb spasticity (51%), facial dysmorphism (38%) and death before reaching adulthood (16%). Brain MRI revealed cerebellar atrophy (100%), white matter volume loss (76.4%), pontine hypoplasia (47.2%) and basal ganglia atrophy with signal alterations (44.4%). Previously unreported 39 affected individuals had seven homozygous pathogenic missense MED27 variants, five of which were recurrent. An emerging genotype-phenotype correlation was observed. This study provides a comprehensive clinical-radiological description of MED27-related disease, establishes genotype-phenotype and clinical-radiological correlations and suggests a differential diagnosis with syndromes of cerebello-lental neurodegeneration and other subtypes of 'neuro-MEDopathies'

Genitourinary Symptoms Associated with Chlamydia trachomatis and Neisseria gonorrhoeae Infections in a Tertiary Care Hospital in Oman

Objectives: This study aimed to determine the pattern of clinical presentations associated with Chlamydia trachomatis and Neisseria gonorrhoeae infections. Methods: A retrospective cohort study was conducted between 2015 and 2020 and included patients attending Sultan Qaboos University Hospital, Muscat, Oman, who were tested for these infections using nucleic acid amplification. Results: A total of 408 women and 89 men were included. A total of 11 infections were identified in women (n = 11, 2.7%) and 14 in men (n = 14, 15.7%). Chlamydia accounted for almost all infections in women (n = 10, 90.9%), commonly presenting with lower abdominal pain or abnormal vaginal bleeding. In men, urethral discharge/dysuria syndrome was the most common presentation and chlamydia was identified in eight men and gonorrhoea in six; a majority of all infections were seen in patients ≤35 years old. Conclusion: The relative prevalence of two common sexually transmitted infections (STIs) among patients with genitourinary symptoms at a tertiary referral hospital have been described. The pattern of their presentations will inform the design of prospective studies to improve surveillance and guide public health policy in Oman. This study highlights the need for a multi-sectoral approach involving all providers to enable comprehensive STI surveillance. Keywords: Sexually Transmitted Diseases; Chlamydia trachomatis; Neisseria gonorrhoeae; Oman

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants. Utilizing exome sequencing and extensive international genetic data sharing, 39 unpublished affected individuals from 18 independent families with biallelic missense variants in MED27 have been identified (29 females, mean age at last follow-up 17±12.4 years, range 0.1-45). Follow-up and hitherto unreported clinical features were obtained from the published 12 families. Brain MRI scans from 34 cases were reviewed. MED27-related disease manifests as a broad phenotypic continuum ranging from developmental and epileptic-dyskinestic encephalopathy to variable neurodevelopmental disorder with movement abnormalities. It is characterised by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%), dystonia (61%), variably combined with epilepsy (50%), limb spasticity (51%), facial dysmorphism (38%), and death before reaching adulthood (16%). Brain MRI revealed cerebellar atrophy (100%), white matter volume loss (76.4%), pontine hypoplasia (47.2%), and basal ganglia atrophy with signal alterations (44.4%). Previously unreported 39 affected individuals had seven homozygous pathogenic missense MED27 variants, five of which were recurrent. An emerging genotype-phenotype correlation was observed. This study provides a comprehensive clinical-radiological description of MED27-related disease, establishes genotype-phenotype and clinical-radiological correlations, and suggests a differential diagnosis with syndromes of cerebello-lental neurodegeneration and other subtypes of “neuro-MEDopathies”

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder

PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles. PPP1R21-related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay/intellectual disability along with coarse facial features