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Double Trouble: Unveiling the Rare Co-occurrence of Neurofibromatosis Type 1 and Multiple Sclerosis.
No full textNeurofibromatosis type 1 (NF1) is a genetic disorder, whereas multiple sclerosis (MS) is an autoimmune, demyelinating disease of the central nervous system (CNS). The co-occurrence of both pathologies is rare, and overlapping symptoms can pose diagnostic challenges. We present a rare case of coexisting NF1 and multiple sclerosis (MS) in a patient with a known history of NF1. An 18-year-old female patient with known NF1 (genetically diagnosed) presented to the hospital for new-onset falls for one week and blurry vision for two weeks. The examination revealed increased tone in bilateral lower extremities and brisk knee reflexes, slightly wide-based gait, positive Romberg\u27s test, and dysmetria on finger-to-nose testing on the left. Chart review revealed that the patient experienced hearing loss six months ago. A magnetic resonance imaging (MRI) of the brain performed at that time demonstrated focal areas of signal intensity (FASI) consistent with stigmata of neurofibromatosis type 1 (NF1), without evidence of a cerebellopontine angle mass such as a vestibular schwannoma. The usual decrease in FASI lesions was not seen, raising suspicion of a demyelinating etiology. Repeat MRI of the brain with contrast on admission revealed progression of multiple centrally enhancing white matter lesions, Dawson\u27s fingers (ovoid, finger-like, hyperintense lesions oriented perpendicular to the lateral ventricles), and bilateral optic nerve enhancement. MRI of the spine showed multiple T2 hyperintensities throughout the spine. The appearance of these intracranial and intraspinal lesions were consistent with MS. Cerebrospinal fluid (CSF) studies showed positive oligoclonal bands and elevated immunoglobulin G (IgG) index. She received five days of high-dose intravenous methylprednisolone, leading to significant improvement in her gait, and was started on ocrelizumab infusions on post-hospital discharge follow-up. This case underscores the importance of recognizing the potential coexistence of NF1 and MS, especially in patients presenting with new neurological symptoms not fully explained by one disorder. Sudden sensorineural hearing loss, defined as a decrease of 30 dB or greater, affecting at least three consecutive audiometric frequencies, occurring within a few hours up to three days, affects 4%-10% of MS patients between relapses or remission and is common in NF2. Early neuroimaging, careful interpretation of lesion characteristics, and CSF analysis are essential to establish the diagnosis and initiate prompt treatment. Given the overlapping radiological and clinical features, NF1 may mask demyelinating pathology, delaying diagnosis and treatment. Awareness of this rare association may facilitate earlier recognition, especially when imaging or symptoms deviate from classical NF1 progression. This case also highlights the evolving understanding of central nervous system (CNS) immune interactions in neurogenetic syndromes. Future research is warranted to determine whether patients with NF1 harbor an intrinsic predisposition to autoimmune CNS disorders such as MS, and whether neurofibromin deficiency plays a role in immune dysregulation. Ultimately, this case calls for a high index of clinical suspicion, multidisciplinary collaboration, and judicious use of advanced diagnostics in managing patients with complex neurological disorders
Opportunity for Increasing Applicant Diversity in Gynecologic Oncology Fellowships
No full textIntroduction: The term healthcare disparity describes differences in access to medical care between population groups. Minimizing the care gap and improving access to care for historically minoritized populations will require a multifaceted approach. Increasing diversity in the healthcare workforce has the potential to lead to significant improvements aimed at minimizing inequity. Fellowship training programs in Gynecologic Oncology serve as the gatekeeper for the workforce of Gynecologic Oncologists. Efforts at improving diversity at the fellowship level are necessary to increase the diversity of practicing physicians. The objective of this study is to assess Gynecologic Oncology fellowship websites for information emphasizing a commitment to diversity and inclusion in hiring practices and identify opportunities for improvement. Methods: All ACGME- (Accreditation Council for Graduate Medical Education) accredited Gynecologic Oncology programs in the United States were included in this study (n=64). The Society of Gynecologic Oncology (SGO) website was used to locate 64 fellowship websites. Two reviewers searched 64 websites to assess for program criteria relating to program description, addressing healthcare disparities, fellow/faculty/alumni information, and inclusion of diversity and inclusion statement in hiring practices. Results: All 64 Gynecologic Oncology programs included in the study had a fellowship program website, and all websites (100%, n=64) included content regarding program overview or description. 40% (n=26) of programs met criteria for inclusion of a diversity statement. 63% of programs (n=40) included a statement on their website addressing healthcare disparities which impact the unique populations served by their institution. Faculty information (81%) was more commonly included on websites than fellow (77%) or alumni (41%) information. Discussion: Increasing diversity in the healthcare workforce requires intentional and ongoing systematic effort. This study analyzed the current state of diversity-oriented recruitment efforts in Gynecologic Oncology fellowship programs to highlight areas where individual programs could improve their diversity and inclusiveness
Satralizumab treatment in adults with aquaporin-4 immunoglobulin G-seropositive neuromyelitis optica spectrum disorder in clinical practice
No full textBackground: Satralizumab is approved for aquaporin-4 immunoglobulin G-positive (AQP4-IgG+) neuromyelitis optica spectrum disorder (NMOSD), but real-world data are limited. This case series aimed to describe real-world experiences with satralizumab in adults with AQP4-IgG+NMOSD. Methods: Case information for patients with AQP4-IgG+NMOSD who received satralizumab for ≥6 months was obtained from US healthcare providers over 28 months. Patient characteristics, examination findings, diagnostic tests, treatment responses, and adverse events were recorded. Results: Of 43 patients, 88% were female and 44% self-identified as Black. Median age was 54 (range, 20–82) years, and time since confirmed NMOSD diagnosis was 8 (1–18) years. Reasons for satralizumab initiation included intolerance/safety concerns with existing therapy (30%), new diagnosis (26%), and inadequate disease control (21%). The median duration of satralizumab treatment was 31 (range, 7–104) months, during which three patients (7%) had radiographically confirmed relapses and 15 (35%) experienced a related adverse event. At data cutoff, 35 patients (81%) were receiving satralizumab. Conclusion: Satralizumab was effective and well tolerated in patients with NMOSD, including those who switched from previous treatments due to inadequate disease control and/or intolerance. These real-world outcomes align with long-term safety and efficacy findings from the Phase III SAkura trials
Cardiac arrest in children: emerging trends in resuscitation and outcomes in low-resource pediatric emergency departments.
No full textPediatric cardiac arrest is a rare but life-threatening condition that often arises from respiratory failure. While survival rates in pediatric emergency settings are generally low, outcomes are significantly worse in low-resource environments. Most resuscitation guidelines are designed for high-resource settings, limiting their applicability in low- and middle-income countries, where infrastructure, staffing, and equipment shortages pose critical challenges. This narrative review explores emerging trends in pediatric cardiac arrest resuscitation in low-resource settings, focusing on the application of basic and advanced life support protocols, telemedicine, and low-cost technologies. Furthermore, we address post-resuscitation care gaps and propose practical solutions for improving survival and neurological outcomes. Key barriers to guideline implementation include ethical challenges, infrastructural limitations, and educational constraints. Tailored interventions, including community-based Cardiopulmonary Resuscitation training and low-cost resuscitation tools, are critical to improving outcomes in these regions. Future research should focus on developing context-specific guidelines and sustainable healthcare infrastructure to bridge the gap in pediatric cardiac arrest care between high- and low-resource settings
An International Consensus on Evaluation and Management of Idiopathic Genu Valgum: A Modified Delphi Survey.
No full textBACKGROUND: Idiopathic genu valgum beyond physiological limits may require treatment, which is based on age, growth remaining, and the magnitude of the deformity. There is no consensus on clinical, or radiologic evaluation, indications, and management of idiopathic genu valgum, which can range from observation to surgical treatment using various modalities. If available, such guidelines will help surgeons offer optimal treatment to their patients. The aim of our study was to establish an expert consensus on the evaluation and treatment of idiopathic genu valgum.
METHODS: An international panel of 29 pediatric orthopaedic surgeons from 17 countries with clinical and research experience in the management of limb deformity participated in a modified Delphi survey. Surgeons were provided with patient and deformity characteristics and voted on 46 statements on history, clinical examination, radiographic evaluation, and treatment options for idiopathic genu valgum in round 1. Consensus was defined as when statements received ≥70% votes. Statements that were important but received
RESULTS: Consensus was achieved for 28/46 statements and included obtaining a full-length standing radiograph of the lower extremities and measuring joint orientation angles. Participants did not agree to offer surgical treatment based only on the intermalleolar distance. They recommended surgical treatment if the mechanical axis falls in zone 2 or beyond on the lateral side and using guided growth by tension-band plating when the growth remaining is at least 2 years. The panel agreed on performing common peroneal nerve decompression for specific indications such as acute, opening wedge osteotomy of \u3e20 degrees, but not for gradual correction. Consensus was not reached for indications and methods of bone age assessment, treatment when growth remaining is \u3c 1 \u3eyear, indications for implant removal after guided growth in younger children, and the type of osteotomy for acute deformity correction.
CONCLUSIONS: We have generated consensus statements to guide the management of idiopathic genu valgum. Statements that lack consensus are areas for future multicenter research.
LEVEL OF EVIDENCE: Level V
When Treatment Mimics Disease: Rapid Differentiation Syndrome in Acute Promyelocytic Leukemia
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Evaluating the impact of different message strategies about OSA employed in the American Academy of Sleep Medicine Count on Sleep campaign.
No full textHealth campaigns hold promise for promoting general awareness about OSA. In 2023, the American Academy of Sleep Medicine developed a series of messages as part of their Count on Sleep campaign. Three distinct messaging strategies were employed in posts disseminated on Facebook: (1) positive outcome (benefits of OSA treatment); (2) negative outcome (consequences of untreated OSA); and (3) partner-focused. We evaluated Facebook analytics to explore which, of the three strategies, was most impactful. The impressions were highest for the positive outcome message (n=120,062), followed by the negative outcome (n=12,286) and partner-focus (n=10,259) messages. Female users were more likely to engage with positive (39% v. 28%) and negative (34% v. 25%) message than males, but genders were quite balanced in engagement with the partner-focus message (36% v. 36%). There was more engagement from older adults (65 years and older) than younger adults across all message types
Functional Outcomes for Patients With Congenital Anorectal Malformations: A Systematic Review and Evidence-based Guideline From the APSA Outcomes and Evidence Based Practice Committee.
No full textOBJECTIVE: Consensus on functional outcomes for anorectal malformations (ARM) is hindered by the heterogeneity of the available literature. Optimal patient counseling includes discussion of short- and long-term outcomes for bowel and urinary continence, sexual and psychosocial function, transitional care, and quality of life. This systematic review examines and summarizes the current literature available related to functional outcomes for children with ARM.
METHODS: The American Pediatric Surgical Association Outcomes and Evidence Based Practice Committee drafted consensus-based questions regarding anorectal malformations. Pertinent articles from 1985 to 2021 were reviewed.
RESULTS: More than 10,843 publications were reviewed with 109 being included in the final recommendations. Recommendations are primarily based on C-D levels of evidence. Continence and constipation rates were higher in patients with perineal fistula and rectovestibular fistula, although symptoms tended to improve as patients got older. Urological anomalies are common and longer term urologic surveillance protocols for patients with ARM need to be further outlined. Sexual and psychosocial issues are common, but ARM patients can have a good quality of life when gastrointestinal symptoms are minimized. Many of the problems associated with ARM can persist into adulthood, supporting structured care plans as patients transition to adult care.
CONCLUSIONS: Evidence to support best practices and achieve optimal outcomes for patients with ARM is lacking for many aspects of care. Multi-institutional registries have begun to address management and prognosis for these patients. Prospective and comparative studies are needed to improve care and provide consensus guidelines for this complex patient population