Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
LEADERSHIP AND ITS FUNCTIONALITY IN THE CROSS-SECTORAL COLLABORATION OF PSYCHOSOCIAL SERVICES FOR CHILDREN AND ADOLESCENTS – OULU COLLECTIVE IMPACT STUDY [PDF]
Psychiatria FennicaBackground: The use of institutional social and healthcare services for children and adolescents has increased worldwide, partly due to a fragmented service system with separate practices and strategic goals, e.g.
TUULA TAKALO, SAMI RÄSÄNEN, HELINÄ HAKKO, MIKA NIEMELÄ
doaj
Improving interagency service integration of the Australian Nurse Family Partnership Program for First Nations women and babies: a qualitative study. [PDF]
Int J Equity Health, 2021 Massi L +6 more
europepmc +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
Enhancing palliative care occupancy and efficiency: a quality improvement project that uses a healthcare pathway for service integration and policy development. [PDF]
BMJ Open Qual, 2021 Alshammary SA, Abuzied Y, Ratnapalan S.
europepmc +1 more source
Towards Business Integration as a Service 2.0
, 2011 Cloud Computing Business Framework (CCBF) is a framework for designing and implementation of Could Computing solutions. This proposal focuses on how CCBF can help to address linkage in Cloud Computing implementations.
Chang, Victor +2 more
core
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
Co-location, an enabler for service integration? Lessons from an evaluation of integrated community care teams in East London. [PDF]
Health Soc Care Community, 2022 Lalani M, Marshall M.
europepmc +1 more source
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source