Multi-Omics Characterization of a Novel <i>SSR4</i> Variant in Congenital Disorders of Glycosylation. [PDF]
Abu Bakar N +6 more
europepmc +1 more source
ABSTRACT Aim Neonates discharged home on medications remain at risk of medication errors. The PADDINGToN programme previously developed parent co‐designed resources to support safer medication administration following discharge. The aim of this study, PADDINGToN‐2, is to evaluate the feasibility of recruiting and retaining parents in a study assessing ...
S. Giva +9 more
wiley +1 more source
Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia. [PDF]
Bayrak H +3 more
europepmc +1 more source
Despite a frequent misconception that behavioural concerns are diagnoses of exclusion, medical conditions and behavioural disorders are frequently inter‐related. In human medicine, the ‘multidisciplinary team’ approach (MDTA) is considered the most efficacious way of managing patients with complex and chronic health conditions.
BE Bollaert, JM Ley, HE Zulch
wiley +1 more source
A new frame shift pathogenic variant (c.773dupT) in the <i>BCKDHB</i> gene caused MSUD in an infant from north of Iran. [PDF]
Jalali H +5 more
europepmc +1 more source
Cancer pain: current practice and emerging targets
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye +5 more
wiley +1 more source
Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects. [PDF]
Hopurcuoglu D +7 more
europepmc +1 more source
Asthma and Multimorbidity Amongst Ethnic Minority Groups in High Income Countries
There is a tight intersection between asthma, deprivation, ethnicity, multimorbidity and poor clinical outcomes. An integrated, holistic and culturally tailored approach is needed to improve clinical outcomes amongst ethnic minority groups with asthma and multimorbidity. ABSTRACT Asthma is one of the commonest noncommunicable diseases worldwide.
Mamidipudi Thirumala Krishna +6 more
wiley +1 more source
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]
Saudubray JM, Schiff M.
europepmc +1 more source
The Relationship Between Polycystic Ovary Syndrome (PCOS) and Depression
ABSTRACT Objective Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder, frequently accompanied by psychological comorbidities including depression. The aim of this narrative review is to summarise the latest research regarding potential contributors to and underpinning mechanisms of this relationship.
Asimina I. Karampela, Maralyn Druce
wiley +1 more source

