Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.

Alpha-methylacyl-CoA-racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood. The purpose of this report is to define clinical variations and follow-up data in AMACR deficiency emphasizing treatment with a review of cases reported in the literature. Here, four patients, from two families, diagnosed with AMACR deficiency and showing phenotypic heterogeneity are presented.

Case series: Congenital enterovirus infection-associated haemophagocytic lymphohistiocytosis and subsequent neutropaenia.

Congenital enterovirus infection can be associated with a pro-inflammatory state triggering haemophagocytic lymphohistiocytosis (HLH). Enteroviruses are also known to cause transient neutropenia in healthy children. Two infants presented with temperature instability, lethargy, thrombocytopaenia, hepatosplenomegaly and evidence of hyperinflammation in the setting of perinatal maternal rash and household contacts with gastrointestinal symptoms.

Factors mitigating the harmful effects of intimate partner violence on adolescents' depressive symptoms-A longitudinal birth cohort study.

Background: Preventing parental intimate partner violence (IPV) or mitigating its negative effects early in the lifecourse is likely to improve population mental health. However, prevention of IPV is highly challenging and we know very little about how the mental health of children exposed to IPV can be improved. This study assessed the extent to which positive experiences were associated with depressive symptoms among children with and without experience of IPV.

Low-Intensity Vibration Protects the Weight-Bearing Skeleton and Suppresses Fracture Incidence in Boys With Duchenne Muscular Dystrophy: A Prospective, Randomized, Double-Blind, Placebo-Controlled Clinical Trial.

The ability of low-intensity vibration (LIV) to combat skeletal decline in Duchenne Muscular Dystrophy (DMD) was evaluated in a randomized controlled trial. Twenty DMD boys were enrolled, all ambulant and treated with glucocorticoids (mean age 7.6, height-adjusted -scores [HAZ] of hip bone mineral density [BMD] -2.

Ageing contributes to phenotype transition in a mouse model of periodic paralysis.

Background: Periodic paralysis (PP) is a rare genetic disorder in which ion channel mutation causes episodic paralysis in association with hyper- or hypokalaemia. An unexplained but consistent feature of PP is that a phenotype transition occurs around the age of 40, in which the severity of potassium-induced muscle weakness declines but onset of fixed, progressive weakness is reported. This phenotype transition coincides with the age at which muscle mass and optimal motor function start to decline in healthy individuals.

Can CSF spectrophotometry for "Xanthochromia" be used to detect leaking subarachnoid aneurysms in patients with sickle cell anemia with negative MRI or CT angiogram despite hyperbilirubinemia?

CSF (Cerebrospinal Fluid) xanthochromia by spectroscopy should not be dismissed in the context of hyperbilirubinemia in a patient with sickle cell anemia. Xanthochromia detected by spectrophotometry offers a vital clue that further invasive diagnosis is required.

Biochemical assessment of patients following ketogenic diets for epilepsy: Current practice in the UK and Ireland.

Objective: Biochemical assessment is recommended for patients prior to initiating and following a ketogenic diet (KD). There is no published literature regarding current practice in the UK and Ireland. We aimed to explore practice in comparison with international guidelines, determine approximate costs of biochemical testing in KD patients across the UK and Ireland, and promote greater consistency in KD services nationally.

Co-production with "vulnerable" groups: Balancing protection and participation.

Background And Aim: This paper explores the tension between participation and protection at a time when professionals are encouraged to engage patients and citizens in both the "R" (research) and the "D" (development) of services. Concerns to protect groups perceived as "vulnerable" can mean that not everyone is afforded the same opportunity to participate.

Methods: Our data draw on the literature and secondary analysis of a study designed to explore the experiences of young peoples' transitions from health and social care to adult services.

Characterization of a novel mutation in a pediatric case of septo-optic dysplasia.

Septo-optic dysplasia (SOD) is a rare condition for which the precise etiology is still unclear. Elucidating the genetic component of SOD is a difficult but necessary task for the future. We describe herein a novel c.