Early-Onset Epileptic Encephalopathy Responsive to Phenytoin: A Diagnostic Clue for Fibroblast Growth Factor 12 Mutation.

We present a case of a three-year-old girl with a rare genetic epilepsy with developmental delay. She was born to a non-consanguineous parentage and required resuscitation soon after delivery via cesarean section. The patient had her first seizure within 36 hours of life, which progressed into refractory epilepsy. She required multiple hospital admissions due to prolonged seizures. Despite being tried on multiple drug combinations over the years, she responded only to phenytoin. Basic imaging and other investigations, including genetic analysis, revealed a fibroblast growth factor 12 (FGF12) mutation. Mutations in these genes cause refractory early-onset seizures associated with severe developmental delay. Due to early and appropriate intervention with phenytoin, she had good seizure control which probably resulted in a better developmental outcome.

Gene transfer therapy in children with spinal muscular atrophy: A single-center experience with a cohort of 25 children.

INTRODUCTION/AIMS: New therapeutic strategies to increase survival motor neuron protein levels in spinal muscular atrophy (SMA) have focused on replacing the SMN1 gene. Onasemnogene abeparvovec was approved by the US Food and Drug Administration in 2019 for treatment of children with SMA less than 2 years of age. Postmarketing studies are limited, especially outside of Europe and the United States. Herein we describe a single-center experience with onasemnogene abeparvovec from the Middle East. METHODS: Between November 17, 2020 and January 31, 2022, 25 children with SMA received onasemnogene abeparvovec at our center in the United Arab Emirates. Data were collected on patients' demographics, age at diagnosis, SMA type, genetic information, relevant medical history, laboratory investigations, and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) functional assessment scores at baseline and 1 and 3 months after gene therapy. RESULTS: Onasemnogene abeparvovec was well tolerated. Significant improvements in CHOP-INTEND scores were observed after the therapy. Elevation of liver enzymes and thrombocytopenia were the most common adverse events, but were transient and managed with high-dose corticosteroids. There were no life-threatening adverse events or deaths reported during the 3-month follow-up period. DISCUSSION: The study findings concurred with those of previously published studies. Side effects of gene transfer therapy are well tolerated, although serious complications can arise. In such cases, persistent transaminitis for example, steroid dose escalation is warranted with close observation of the patient's clinical status and lab values. Combination therapy should be explored as an alternative to gene transfer therapy only.

Doctors with dyslexia: strategies and support.

BACKGROUND: Looking beyond dyslexia as an individual doctor's issue requires adjusting a working environment to better serve the needs of doctors with dyslexia. With an increasing number of doctors disclosing dyslexia at medical school, how can educators best provide this support? Our research looks at the impact of dyslexia on clinical practice and the coping strategies used by doctors to minimise the effect. METHODS: Qualitative data were collected from 14 doctors with dyslexia using semi-structured interviews and by survey. 'In situ' demonstration interviews were conducted in order to understand how dyslexia is managed in the workplace from first-hand experience. Employers and educators who have responsibility for meeting the needs of this group were also consulted. RESULTS: Even in cases of doctors who had a diagnosis, they often did not disclose their dyslexia to their employer. Study participants reported having developed individual ways of coping and devised useful 'workarounds'. Support from employers comes in the form of 'reasonable adjustments', although from our data we cannot be sure that such adjustments contribute to an 'enabling' work environment. Supportive characteristics included the opportunity to shadow others and the time and space to complete paperwork on a busy ward. How can educators best provide support [for doctors with dyslexia]? DISCUSSION: Doctors with dyslexia need to be helped to feel comfortable enough to disclose. Educators need to challenge any negative assumptions that exist as well as promote understanding about the elements that contribute to a positive working environment. As a result of the research there is now practice available for educators to identify evidence-based strategies and resources.

Clinicians with dyslexia: a systematic review of effects and strategies.

BACKGROUND: For educators, an awareness of the impact of dyslexia on learners in the clinical workplace is vital: first, to be able to identify whether dyslexia may underlie certain traits and behaviours; and second, to be able to provide appropriate advice and support when dyslexia is identified. We reviewed the primary research evidence concerning the effects of dyslexia on clinicians (in or after training) in the workplace, and adaptive strategies ('workarounds') that are presently in use. METHODS: A systematic search of literature was undertaken, followed by a narrative review of studies selected as meeting the inclusion criteria. The review used a priori research questions and focused on studies based on primary research evidence. RESULTS: The review identified five key studies on qualified doctors or nurses with dyslexia. The impact of dyslexia on doctors can include: writing and calculating prescriptions, writing patient notes, and prioritising and making referrals. Strategies to minimise the effects of dyslexia include the use of adaptive technologies, the need for more time for mentors and supervisors, and an awareness of 'enabling' and 'disabling' environments. An awareness of the impact of dyslexia on learners in the clinical workplace is vital DISCUSSION: The difficulties associated with dyslexia are varied and may be unexpected. Medical educators must therefore be aware of dyslexia and its impact. When supporting a trainee with dyslexia, there is guidance available but educators may struggle to identify strategies and resources that are evidence based, so further research is required.

Strengthening new graduate nurse residency programs in critical care: recommendations from nurse residents and organizational stakeholders.

BACKGROUND: Thirty-four new graduate nurses participated in a critical care nurse residency program in preparation for opening a new intensive care unit. At the end of the program, multi-constituent focus groups were held to assess program effectiveness. METHOD: Participants included 34 new graduate nurses, 18 preceptors and staff nurse partners, five clinical nurse specialists, and five nurse directors. Twelve focus groups were held; groups included four to eight nurses from the same role group. Two independent reviewers analyzed recordings and transcripts of focus group content to identify themes. RESULTS: Five themes were identified: program design, developing nursing expertise, program impact on the unit, future expectations, and communication. Comments were used to guide program improvements and offer new insights for residency programs in acute and critical care. CONCLUSION: Obtaining structured input from multiple program stakeholders is beneficial in evaluating a program's impact and identifying areas for improvement.

Health care providers' attitudes regarding family presence during resuscitation of adults: an integrated review of the literature.

PURPOSE: Family presence (FP) during resuscitation is a controversial practice that leads to disagreement among health care professionals. A systematic review of the literature was performed to answer the question: What are the attitudes of health care providers regarding family presence during resuscitation of adults? METHODS: MEDLINE, PubMed, and CINAHL databases were searched using the following terms: family, family presence, family witnessed, cardiopulmonary resuscitation, nurses, personnel, patient, attitudes, attitude of health personnel, and ethics. Criteria for inclusion consisted of research studies addressing health care providers' attitudes toward family presence during adult resuscitation conducted in the United States that were published between 1998 and 2008. RESULTS: The literature search produced 480 titles. Thirteen full-text articles met criteria for inclusion in the evidence tables. Findings of this integrated literature indicate that: between and within discipline differences in attitudes, perceived burden on staff, perceived effects on family, lack of medical knowledge of family, and existence of a hospital policy influence provider attitudes toward FP. CONCLUSIONS AND IMPLICATIONS: More research is needed to determine if FP is evidence based; however, there is sufficient evidence to consider implementing FP. There is wide variation in support for FP among health care professionals, although nurses generally are more favorable. If an institution elects to implement an FP policy or evidence-based practice guideline, it must carefully consider the many provider, patient, family, and system-level factors that can hinder or promote the success of this initiative.

Incorporating scenario-based simulation into a hospital nursing education program.

Nurse educators are challenged to provide meaningful and effective learning opportunities for both new and experienced nurses. Simulation as a teaching and learning methodology is being embraced by nursing in academic and practice settings to provide innovative educational experiences to assess and develop clinical competency, promote teamwork, and improve care processes. This article provides an overview of the historical basis for using simulation in education, simulation methodologies, and perceived advantages and disadvantages. It also provides a description of the integration of scenario-based programs using a full-scale patient simulator into nursing education programming at a large academic medical center.