Genetic Testing for Beta-propeller Protein-Associated Neurodegeneration (BPAN) (P5.026)
Conclusions:BPAN is an extremely rare disease characterized by global developmental delay followed in young adulthood by progressive dystonia-parkinsonism. BPAN, like an increasing number of rare neurological diseases, can be identified through genetic testing. Routine genetic testing however often provides incomplete results. Understanding the limitations of genetic testing and pursuing testing based on a clear clinical presentation is essential for establishing the correct diagnosis.Disclosure: Dr. Machado has nothing to disclose.
Conditions: Cerebral Palsy; Chronic Pain Intervention: Diagnostic Test: MRI Sponsors: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.; Johns Hopkins University; Mount Washington Pediatric Hospital; Neurosurgery Pain Research Institute; Cerebral Palsy Alliance Recruiting
Conditions: Tuberous Sclerosis; Epilepsy Intervention: Sponsors: Imagine Institute; RWTH Aachen University; Ruhr University of Bochum; Medical University of Warsaw Recruiting
Condition: Cerebral Palsy Interventions: Other: Aquatic-based Plyometric Exercises; Other: Standard Physical Therapy Sponsor: Cairo University Completed
Condition: Cerebral Palsy, Spastic Interventions: Device: repetitive Transcranial Magnetic Stimulation; Device: sham repetitive Transcranial Magnetic Stimulation; Other: neurorehabilitation Sponsor: Universitat de Lleida Not yet recruiting
Curr Med Res Opin. 2022 Jan 19:1-2. doi: 10.1080/03007995.2021.2023394. Online ahead of print.NO ABSTRACTPMID:35045782 | DOI:10.1080/03007995.2021.2023394
We present the case of a patient with an aggressive course of this neoplasm treated with temsirolimus, who achieved 10-month control of this neoplasm accompanied by a discussion on other therapeutic possibilities.
Conclusion Low-energy fractures of the lower limb in non-ambulant children with cerebral palsy are relatively common and explained by the presence of reduced bone strength, in the absence of any other unexplained injuries or safeguarding concerns.
European Journal of Human Genetics, Published online: 20 January 2022; doi:10.1038/s41431-021-01022-5A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease
In this report, we present the case of a C...
Popliteal artery aneurysm (PAA) is a rare disease with a prevalence of 0.1-1%. Within the last years, endovascular repair of PAA (ER) has been performed more frequently despite the lack of high-level evidence compared to open surgery (OR). In 2014, the POPART registry was initiated to validate current treatment options in PAA repair.