Impact of trimethylaminuria on daily psychosocial functioning.

Background: Trimethylaminuria (TMAU) (OMIM #602079) is a rare inherited metabolic condition. TMAU is associated with decreased hepatic trimethylamine N-oxidation, which leads to an excess of the volatile trimethylamine (TMA) instead of substrate conversion to trimethylamine N-oxide (TMAO). TMA is a tertiary amine derived from the enterobacterial metabolism of precursors such as choline and phosphatidylcholine present in the diet, and is also a bacterial metabolite of TMAO, a normal constituent of saltwater fish.

The effects of a UK lockdown on orthopaedic trauma admissions and surgical cases: A multicentre comparative study.

Aims: The current global pandemic due to COVID-19 is generating significant burden on the health service in the UK. On 23 March 2020, the UK government issued requirements for a national lockdown. The aim of this multicentre study is to gain a greater understanding of the impact lockdown has had on the rates, mechanisms and types of injuries together with their management across a regional trauma service.

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.

-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.

-carbamoyl-l-glutamate (NCG), the -acetyl-l-glutamate analogue used to treat -acetylglutamate synthase deficiency, has been proposed as potential therapy of carbamoyl phosphate synthetase 1 deficiency (CPS1D). Previous findings in five CPS1D patients suggest that NCG-responsiveness could be mutation-specific. We report on a patient with CPS1D, homozygous for the novel p.

Distance-near disparity esotropia: can we shrink the gap?

Distance-near disparity esotropias are a group of heterogenous usually acquired strabismus disorders, where the angle of misalignment at near exceeds that at distance by 10 prism diopters or more, where the accurate correction of refractive errors and ambylopia are important early objectives. These aetiologically diverse entities respond non-uniformally to strabismus surgery and bifocals. The management challenge is one of 'shrinking' the disparity so that the affected individuals can develop and comfortably maintain binocular single vision and/or optimal alignment.

Pseudohypoaldosteronism type 1: clinical features and management in infancy.

Unlabelled: Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made.

Reversible parainfectious bilateral "striatal necrosis".

Bilateral striatal necrosis is usually associated with either endogenous or exogenous toxins, and with poor neurodevelopmental outcomes. We describe two patients with acute bilateral striatal clinical syndrome and magnetic resonance signal changes who made a complete clinical and radiologic recovery within 3 months. After an uneventful pregnancy, normal birth, and normal development, both boys presented at ages 3 and 5 years, respectively, after a viral illness with slurring of speech, bradykinesia, and an extrapyramidal movement disorder.

Management of osteonecrosis in children and young adults with acute lymphoblastic leukaemia.

Osteonecrosis is a disabling complication in children and young adults with acute lymphoblastic leukaemia. It can affect any or multiple joints but the hip and knee are most frequently involved and a cause of long-term disability. The problem is almost exclusively that of older children and young adults of whom over 70% have asymptomatic changes on screening magnetic resonance imaging and 15-20% have resulting symptoms.

Pharmacokinetics of mercaptopurine: plasma drug and red cell metabolite concentrations after an oral dose.

Measurement of red cell 6-mercaptopurine (MP) derived 6-thioguanine nucleotide (TGN) and methylmercaptopurine metabolites (MeMPs) can be used to monitor therapy in children who are administered MP for childhood lymphoblastic leukemia. Red cell TGNs are not influenced by the time of blood sampling in relation to the last MP dose. The purpose of this study was to find out whether the same is true for the MeMPs.

Growth, puberty and obesity after treatment for leukaemia.

Final height, body proportions, pubertal growth and body mass index were studied retrospectively in 142 survivors of acute lymphoblastic leukaemia (ALL). Treatment consisted of combination chemotherapy and cranial irradiation (18 or 24 Gy). Significant standing height loss and disproportion, with a relatively short back, was seen in both radiation dose groups.