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PATH-79. High-grade astrocytoma with piloid features (HGAP) comprehensive update: histological grading, molecular markers and clinical outcomes
No full textClinical trajectories and medication response in TBC1D24-related epilepsies.
No full textOBJECTIVE: Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24-related disorders.
METHODS: We performed an analysis of the electronic medical record data of 15 individuals with TBC1D24-related disorders. Using the Human Phenotype Ontology, we recorded neurological histories and medication responses across 197 patient-years of information.
RESULTS: Individuals with TBC1D24-related disorders presented with a range of seizure types with a median age at seizure onset of 3 months-most frequently (73%) with focal myoclonic seizures both sparing and impairing consciousness. We report the maximum prevalence (MP) of various features as percentages of individuals reporting a given phenotype at that time point, compared to all those with available data at that time point. MP of focal seizures was at 6.25 and 7.75 years of age (88%), myoclonic seizures (focal and generalized) between 9 and 10 years of age (80%), and status epilepticus at 9 and 11 months of age (90%). Individuals also presented with a range of movement disorders. The MP of non-epileptic myoclonus was 100% at 1 and 17 months of age, tremor at 14 months of age (67%), ataxia at 7.25 years of age (45%), and episodic hemiplegia at 3.25 years of age (20%). The use of phenobarbital, oxcarbazepine, and topiramate showed the most promise in seizure management when compared to other ASMs. Everolimus, phenobarbital, and oxcarbazepine proved more effective in maintaining seizure freedom or reducing seizure frequencies in focal and myoclonic seizures compared to other ASMs.
SIGNIFICANCE: TBC1D24-related disorders are characterized by severe and pharmacoresistant epilepsy, with status epilepticus, focal seizures, and myoclonic seizures early in life. This study offers novel insights into the longitudinal disease course and treatment response in TBC1D24-related disorders, a critical first step toward clinical trial readiness
C15 DNL343 in amyotrophic lateral sclerosis: results from the double-blind, placebo controlled, randomized HEALEY ALS platform trial
No full textSex-based Differences in Hemodynamic Data Obtained by Echocardiography in Patients With Cardiogenic Shock.
No full text
UNMASKING A SILENT THREAT: LATE PROSTHETIC VALVE DEHISCENCE FROM UNDIAGNOSED CHRONIC AORTIC DISSECTION
No full textIncidental Discovery of Malignant Pheochromocytoma During Preoperative Coronary Artery Bypass Surgery (CABG) Workup.
No full textPheochromocytomas are catecholamine-secreting neuroendocrine tumors that occur in less than 0.2% of patients presenting with hypertension. Of these, approximately 10% are found to have malignant potential, thus further demonstrating their rarity. In patients with uncontrolled hypertension, a pheochromocytoma should be included in the differential diagnosis. A 54-year-old male with a past medical history of coronary artery disease (CAD) and hypertension presented to the emergency department with chest pain. On workup, there was concern for acute coronary syndrome, and he was taken to the cardiac catheterization suite. He was found to have multi-vessel CAD, and the decision was made for a coronary artery bypass surgery (CABG). Prior to the procedure, he was found to have a left adrenal mass, which was ultimately found to be a malignant pheochromocytoma. Pheochromocytomas are rare neuroendocrine tumors composed of chromaffin cells, which are responsible for the secretion of catecholamines. These tumors occur in less than 0.2% of patients with hypertension and can be benign or malignant, with malignancy occurring in 10% of cases. According to the World Health Organization (WHO), malignant pheochromocytomas can only be defined with the presence of regional invasion or metastasis in a non-chromaffin site. In conclusion, despite the rarity of pheochromocytomas, it is important to keep these tumors in the differential diagnosis, especially when considering a patient with refractory hypertension. Any incidentaloma with appropriate clinical history, such as uncontrolled hypertension, should raise the suspicion of pheochromocytoma
The International Pediatric Stroke Study: Insight into Childhood Stroke from a Developmental Perspective.
No full textOBJECTIVE: To determine if children enrolled in the International Pediatric Stroke Study (IPSS) database (4,294 patients enrolled, 2003-2014, neonates through 18 years of age) demonstrate demographic, clinical, radiographic, and therapeutic characteristics that relate to age and development at the time of stroke .
STUDY DESIGN: Participants with arterial ischemic stroke or cerebral sinus venous thrombosis were enrolled using standardized consent and case report forms. Data were entered on-site and electronically transferred to a central data storage site in Toronto, Canada. Children were stratified into 4 age groups for analysis of developmental features: neonates (0-28 days of age); infants (29 days to \u3c 2 years of age); young children (2 years to \u3c 10 years old), and adolescents (\u3e 10 years to \u3c 18 years old). Continuous and categorical variables were examined using appropriate statistical techniques in SAS.
RESULTS: 3,809 children were analyzed: 1,112 (29.2%) neonates, 728 (19.1%) infants, 1,088 (28.6%) young children, and 881 (23.1%) adolescents. Arterial ischemic stroke alone occurred in 3,201 (916 neonates; 2,285 older children) and cerebral sinovenous thrombosis alone occurred in 608 (196 neonates; 412 older children). Age group specific clinical and neuroimaging features that segregate by ischemic stroke type were identified and are reported.
CONCLUSIONS: The IPSS database comprises the a very large, structured pediatric stroke database used by investigators to advance the understanding and treatment of pediatric stroke. Developmentally based analyses of IPSS data reveal features of childhood stroke that segregate by ischemic stroke type and age at stroke occurrence. These features should aid in understanding age-related pathophysiology and in clinical stroke recognition