Lymphatic Disorder Management in Pediatric Patients With Congenital Heart Disease in European Pediatric Cardiology Centers: Current Status, Disparities, and Future Considerations.

Background: Lymphatic disorders such as protein-losing enteropathy, plastic bronchitis, and chylothorax are important complications of the Fontan circulation and ultimately result in an increased risk of early death. Several European centers are now performing lymphatic procedures. The aim of this study is to map the extent of these lymphatic disorders and treatments provided across European pediatric cardiology centers.

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.

Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life. It is caused by the deficiency of the enzyme fumarylacetoacetate hydrolase which is involved in the terminal step of the catabolic pathway of tyrosine. Diagnosis is made through clinical suspicion supported by biochemical abnormalities that result from accumulation of upstream metabolites.

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series.

In maple syrup urine disease (MSUD), leucine (Leu) accumulation, and its metabolites cause brain toxicity, and at diagnosis rapid plasma Leu reduction is essential. Valine (Val) and isoleucine (Iso) supplements are necessary to promote anabolism and enable prompt reduction of plasma Leu. Val/Iso supplements are unavailable in Iran, so an alternative source was necessary.

Routine management, healthcare resource use and patient and carer-reported outcomes of patients with transfusion-dependent β-thalassaemia in the United Kingdom: A mixed methods observational study.

Objectives: We evaluated routine healthcare management, clinical status and patient- and carer-reported outcomes in UK paediatric and adult patients with transfusion-dependent β-thalassaemia (TDT).

Methods: A multi-centre, observational mixed-methodology study evaluated 165 patients (50% male; median age 24.1 [interquartile range (IQR)] 11.

The natural history of glycogen storage disease type Ib in England: A multisite survey.

Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across England. A total of 35 patients, with a median age of 9.

Use of the medial canthal point (MCP) as a reliable anatomical landmark to the frontal sinus.

Objectives: Frontal sinus surgery is considered one of the more challenging aspects of Functional Endoscopic Sinus Surgery, due to the complex variations in normal sinus anatomy but also increased morbidity due to the close proximity of critical structures such as the anterior cranial fossa and orbits. We aim to investigate the medial canthal point (MCP) as an anatomical landmark for safe frontal sinus access.

Methods: The MCP intranasally is identified during surgery with non-tooth forceps, with one limb just anterior to the medial canthus and the other intranasally in the same coronal plane along the skull base.

A survey of extracorporeal photopheresis treatment in pediatric patients in the United Kingdom.

Extracorporeal photopheresis (ECP) is a second-line therapy in acute and chronic GVHD and solid organ transplant rejection. We report ECP use in 98 pediatric patients in seven UK centers from 2010 to 2017, the majority treated for aGVHD (73.5%).

Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.

Background: Nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both SA and nitisinone for disease monitoring and optimization of treatment. Analysis of dried blood spots (DBS) rather than plasma samples is a convenient method, but interlaboratory differences and comparability of DBS to serum/plasma may be issues to consider.

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Background: Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often disproportionate bleeding with over 30 genes currently implicated. Previously the UK-GAPP study using whole exome sequencing (WES) identified a pathogenic variant in 19 of 47 (40%) patients of which 71% had variants in genes known to cause IT.

Aims: To employ a targeted next-generation sequencing platform to improve efficiency of diagnostic testing and reduce overall costs.