-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Diagnosing primary lateral sclerosis: a clinico-pathological study.

Background:  Primary lateral sclerosis (PLS) is a rare motor neuron disease characterized by upper motor neuron degeneration, diagnosed clinically due to the absence of a (neuropathological) gold standard. Post-mortem studies, particularly TDP-43 pathology analysis, are limited.

Methods: This study reports on 5 cases in which the diagnostic criteria for PLS were met, but in which neuropathology findings showed (partially) conflicting results.

One-Year Quality of Life Outcomes of Delayed Unilateral Autologous Breast Reconstruction and Associated Patient Factors.

Introduction: As breast cancer survival rates improve, the long-term quality of life (QoL) has become increasingly important. With a significant number of patients still undergoing mastectomy and experiencing its well-known negative impacts on QoL, breast reconstruction aims to mitigate this by restoring body integrity. This study aimed to evaluate the changes in QoL and satisfaction in patients after breast reconstruction and influence of various patient-related factors.

GraphPPL.jl: A Probabilistic Programming Language for Graphical Models.

This paper presents GraphPPL.jl, a novel probabilistic programming language designed for graphical models. GraphPPL.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

The heterotrimeric protein phosphatase 2A (PP2A) complex catalyzes about half of Ser/Thr dephosphorylations in eukaryotic cells. A CAG repeat expansion in the neuron-specific protein PP2A regulatory subunit PPP2R2B gene causes spinocerebellar ataxia type 12 (SCA12). We established five monoallelic missense variants in PPP2R2B (four confirmed as de novo) as a cause of intellectual disability with developmental delay (R149P, T246K, N310K, E37K, I427T).