Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series.

Autosomal-dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of hereditary spastic paraplegia. However, we report two unrelated males with novel CPT1C variants (NM_001199753.2: patient 1: c.

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.

Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.

Screening for Percutaneous Lung Cryoablation Adverse Event Risk: A Single Center Comparative Analysis to Surgical Risk Estimates.

Objective: To evaluate the relevance of established surgical risk calculators (SRCs) for predicting complications in patients undergoing percutaneous lung cryoablation (PLC).

Methods: The institution's database was queried for PLC procedures from March 2015 to May 2024, excluding those patients with concomitant local therapies or five or more lesions treated in a single setting. Demographics, frailty metrics as defined by the surgical literature, and procedural variables were collected.

Patient Perceptions of Radiation Therapy Prior to Initial Consultation With a Radiation Oncologist.

Purpose: There are currently limited data regarding patient perceptions and fears related to radiation therapy (RT). This study sought to identify and quantify patient concerns regarding RT and to determine the potential value of assessing these expectations prior to initial consultation.

Methods And Materials: Patients with no prior history of RT were invited to complete an investigator-developed anonymous electronic survey prior to consultation.