A case of Landau-Kleffner syndrome with SLC26A4-related hearing impairment

Background Landau-Kleffner syndrome (LKS) is an acquired aphasia and electroencephalogram (EEG) abnormalities mainly in temporoparietal areas. SLC26A4 mutations can cause hearing loss associated with enlarged vestibular aqueduct (EVA). Case presentations We report a case of LKS in a 5-year-old boy with non-syndromic EVA due to homozygous mutations of c.919-2A>G (IVS7-2A>G) in SLC26A4. He had normal language development before 2 years old. At the age of 2.5 years, he was admitted to the hospital due to remarkable language delay, and diagnosed with hearing loss with EVA. The seizures started at 4.4 years of age and EEG recording showed electrical status epilepticus during sleep (ESES) with a posterior-temporal predominance. He received cochlear implantation in the right ear at 4.7 years of age, which improved his hearing and language skills. The nocturnal focal motor seizures recurred at 4.9 years of age. Then a remarkable inability to respond to calls and reduction in spontaneous speech were noticed. He was treated with methylprednisolone at 5 years old, which controlled the seizures, suppressed ESES, and remarkably improved the language ability. The absence of seizures maintained until the last follow-up at 5.3 years of age, with further improvements in EEG recording and language ability. Conclusions The co-existence of LKS and hearing loss caused by SLC26A4 mutations increases the difficulty of LKS diagnosis, especially in the presence of hearing loss and impaired language skills. EEG discharges predominantly in temporoparietal areas, the occurrence of ESES, and language improvement after antiepileptic medications are potential indicators for LKS diagnosis.

An Evidence-based Medical Research on the Comparative Quantification of TGF? and Telomerase Experimentations, with their Molecular Pharmacological Analyses as Targets of Oncoimmunotherapeutic Vaccines

The basic oncotherapeutic vaccines used are cell based vaccines including whole cell vaccines, genetically modified tumour cell vaccines and dendritic cell vaccines, anti-idiotype antibody based vaccines, protein or peptide based vaccines, heat shock proteinbased vaccines, viral, bacterial or yeast vectors based vaccines, mRNA or DNA nucleic acid based vaccines, vaccines based on tumour associated antigens like overexpressed proteins, differentiation antigens, cancer-testis antigens and oncofoetal antigens, and tumour specific antigens including oncogenic viral antigens, antigen presenting cells or molecular neoantigens based vaccines with specific CD8+ T cells and, CD4+ T cells, and nanoparticles vectors based vaccines. The objective of this evidence-based medical research was the comparative quantification of TGF? and telomerase experimentations, with their molecular pharmacological analyses as targets of oncoimmunotherapeutic vaccines. A molecular pharmacological multi-variate, qualitative, analytical study of the retrieved literature derived through a thorough literature review from various available literature databases, was performed, to record, review, thoroughly analyse and delineate the molecular pharmacological basis of oncoimmunotherapeutic vaccines from a wide-ranged study literature containing molecular pharmacological researches, reviews, case presentations and varied databases about the pharmacooncoimmunotherapeutic rationale of the clinical use of vaccines in the treatment of cancer patients, with a specific emphasis on telomerase and TGF?, as molecular pharmacological targets of oncoimmunotherapeutic vaccines. After that, a multivariate evidence-based medical research study of comparative quantification and analysis of the global heterogenous multidisciplinary experimentations and study literature on telomerase and TGF?, as molecular pharmacological targets of pharmaco-oncoimmuno-therapeutic vaccines, affecting global malignant and borderline malign

Audiology, an Important Contributor to Interprofessional Holistic Care: An Interprofessional Collaborative Case Example

Purpose: Interprofessional collaboration improves health outcomes, enhances health care satisfaction, and facilitates more effective use of resources. Interprofessional collaborators increasingly understand and value other professions. A.T. Still University provides students from multiple programs with opportunities to develop interprofessional collaboration skills. This research note presents details of one such interprofessional education (IPE) opportunity, a collaborative case. Audiology was part of this case in two ways: Audiologic details of the simulated patient were provided to all students, and audiology students participated in the experience. The results of this involvement are reported. This research note is primarily descriptive in nature; however, the question of whether students viewed their interprofessional competencies as improving following the IPE experience was explored using a validated self-report tool, the Interprofessional Collaborative Competency Attainment Survey (ICCAS). Method: A total of 23 students completed the ICCAS. Additionally, student case presentations were reviewed and audiology-based recommendations were tallied. Results: Highly significant differences ( p ≤ .01) for all 20 items on the ICCAS were observed for differences in self-assessed interprofessional skills knowledge. All but one of the 12 teams made specific recommendations regarding the communication needs of the patient. Conclusions: Students viewed their own competencies related to interprofessional collaboration as improved following the collaborative case experience. Overall, the collaborative case experience was effective in providing students with the opportunity to develop a breadth of skills needed for interprofessional collaboration. Providing audiologic information in the case history prompted all but one team to consider patient communication needs.

Ocular Toxoplasmosis: No Stranger to the Masquerade Ball

Purpose: This article illustrates multiple atypical manifestations of ocular toxoplasmosis masquerading as acute retinal necrosis and vitreoretinal lymphoma. Methods: Two case presentations are discussed, and the body of pertinent literature is reviewed and discussed. Results: In these cases, an extensive workup and attention to history lead to the correct diagnosis and management. Conclusions: Aggressive cases of ocular toxoplasmosis may present in a variety of phenotypes that may mimic other vision- and potentially life-threatening conditions, particularly in a milieu of inadequate endogenous and exogenous antimicrobial defenses.

Reactivation of BCG vaccination scars after vaccination with mRNA-Covid-vaccines: two case reports

Background From May 2020 to January 2021, we enrolled 1233 health care workers (HCW) from Danish Hospitals in a randomized trial evaluating whether Bacille Calmette-Guérin (BCG) provides protection against COVID-19. Participants were randomized 1:1 to BCG vs saline and followed for 6 months. From December 2020, Covid-19 vaccines were offered to the HCW. In most cases, BCG vaccination results in a characteristic scar. Reactivation of the BCG scar has been described in children during viral infections and following influenza vaccination, but is mostly associated to Kawasaki’s disease, a disease entity with pathogenesis likely similar to the child Covid-19 complication MIS-C: Multi-System Inflammatory Syndrome. Reactivation of scars after neonatal BCG vaccination has recently been described in four women after Covid-19 mRNA vaccination. Two of our trial participants experienced reactivation of their novel BCG scars after receiving mRNA Covid-19 vaccination 6 to 8 months post-BCG. Case presentations Two female HCW participants that had been randomly allocated to BCG in the BCG-DENMARK-COVID trial, spontaneously reported itching and secretion at the BCG scar site after having received mRNA Covid-19 vaccination (Moderna and Pfizer-BioNTech) 6 to 8 months following inclusion and BCG vaccination. One participant, who had a larger BCG skin reaction, noticed re-appearing symptoms after both the first and the second COVID-vaccine dose, while the other participant only noted symptoms after the second dose. Both had been BCG vaccinated during childhood, and no reactivation was noted in the older scars. No treatment was needed or provided. Conclusions The reactivation of the BCG scar after receiving mRNA vaccine might have been caused by cross-reactivity between BCG and SARS-CoV-2. In both cases, the symptoms were bothersome, but self-limiting and left no sequelae. The risk of reactivation at the scar site is thus not a reason to avoid vaccination with either vaccine.

Implications and Recommendations From a Project ECHO Series on Aging With IDD

Ongoing evaluations of innovative educational programs provide opportunities for quality improvement. This paper reports results from a Project ECHO series on lifelong IDD and dementia. Participant responses (n = 85) were collected from spoke sites in various settings across the US. Using a 5-point (5 very effective) Likert scale, data were collected from assessment items on 4 didactic presentations and 5 case studies representing essential components of the ECHO model. Overall scores by spoke sites for satisfaction with the didactic and case presentations ranged from 3.94 to 4.94; relevance of case studies to the work setting ranged from 4.0 to 4.75. Knowledge gain questions showed consistently positive directionality. As a result of their participation, spokes rated intent to provide better care for patients (57% to 88%), train staff (62% to 81%), and educate family/caregivers (57% to 88%). Implications of findings for the application of quality improvement methods are discussed.

“Are We Safe Analysts?” Cisgender Countertransferential Fantasies in the Treatment of Transgender Patients

The authors examine the impact of countertransference in two clinical cases of transgender patients treated by two cisgender analysts who are accustomed to receiving nonconforming gender patients in France and Brazil. The context is that of contemporary views of transphobic countertransference reactions, specifically the work of Griffin Hansbury, who describes these reactions in terms of “unthinkable anxieties.” Like other theorists with expanding notions of countertransference, the authors view transphobia in analysis as an “instrument of research” and consider how taking responsibility for the transference is particularly relevant in respect to clinical cases that also reflect societal changes. Following the authors’ case presentations, they identify four different fantasies and countertransferential reactions that sprang from their efforts to be safe analysts or, in other words, analysts concerned about the perpetuation of discrimination, violence, and oppression that may have guided their work.