Place of death and healthcare utilisation at the end of life among individuals with mental and behavioural disorders as underlying cause of death: population-level multiple-register study. [PDF]
Olsson MM +4 more
europepmc +1 more source
Musculoskeletal disorders as underlying cause of death in 58 countries, 1986-2011: trend analysis of WHO mortality database. [PDF]
Kiadaliri AA, Woolf AD, Englund M.
europepmc +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Improving the usefulness of US mortality data: new methods for reclassification of underlying cause of death. [PDF]
Foreman KJ, Naghavi M, Ezzati M.
europepmc +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Analysis of mortality by underlying and multiple causes of death
Some aspects of mortality statistics based on underlying and multiple causes of death are analysed. A sample was drawn for study from deaths ocurred in hospitals using the official death certificates. With the help of additional information taken from medical records the death certificates were filled out again and compared with the original ones ...
openaire +1 more source
Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports. [PDF]
Heathfield LJ +4 more
europepmc +1 more source
Underlying Cause of Death Recorded during 2013 to 2015 at a Tertiary General Hospital in Vientiane Capital, Lao PDR. [PDF]
Phoummalaysith B +5 more
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Obscuring effect of coding developmental disability as the underlying cause of death on mortality trends for adults with developmental disability: a cross-sectional study using US Mortality Data from 2012 to 2016. [PDF]
Landes SD, Stevens JD, Turk MA.
europepmc +1 more source

