Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are very rare conditions caused by KAT6B truncating variants. Because of both syndromes often share common features the associated phenotypes are usually grouped under the term "KAT6B-related disorders." However, particular signs of each syndrome have been reported and their appearance seems to be dependent on where the KAT6B variant is located.

[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case].

Introduction: Hypomyelinating leukodystrophy-6 is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination, cerebellar hypoplasia and specific abnormalities in basal ganglia, particularly the absence or nearly absence of putamen and the possible loss of caudate's volume. It is due to an alteration in tubulin and it is determined by mutations in heterocygosis in TUBB4A gene, showing complete penetrance.

Case Report: An 8-year-old child with history of delayed motor development, tremor, dysathria, ataxia, nystagmus, cognitive deficit and dystonia with pattern of hypomielination, vermis hypoplasia and absence of putamen.

Copy number variation analysis of patients with intellectual disability from North-West Spain.

Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis has been proved as a strategy particularly useful in the discovery of loci and candidate genes associated with these phenotypes and is widely used in the clinics with a diagnostic purpose. In this study, we evaluated the usefulness of two genome-wide high density SNP microarrays -Cytogenetics Whole-Genome 2.

[Retrospective analysis of the effect of a vagus nerve stimulator implanted in paediatric patients with refractory epilepsy].

Introduction: The vagus nerve stimulator is a therapeutic alternative in patients with epilepsy which is refractory to treatment with antiepileptic drugs that are not candidates for surgical resection.

Aim: To analyse the effectiveness of vagus nerve stimulator in the paediatric patients of our centre.

Patients And Methods: Set of 13 patients implanted between 2008 y 2013.

[Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes].

Introduction: The 3q29 microdeletion and microduplication syndromes are characterised by a marked phenotypic heterogeneity, and delayed development and a mild-moderate degree of intellectual disability are the most frequent clinical manifestations.

Case Reports: Two patients with reciprocal chromosomal aberrations in the 3q29 region. The patient with 3q29 microdeletion presented learning disabilities, borderline microcephaly, mild facial dysmorphism, attentional deficit and impulsiveness, and anxious and obsessive traits.

Delay in thrombolytic treatment in acute myocardial infarction: the role of the accident and emergency department.

During a 6-week period, 248 patients presenting with chest pain presumed to be cardiac in origin, were recruited in a time and motion study in the Accident and Emergency Department of the Leicester Royal Infirmary. The study considered the ambulance-response and transfer times from the scene to the hospital, as well as the duration of the patients stay in the Department. While Ambulance Time from the scene of the incident to the hospital averaged 28 min, the time spent in the Accident and Emergency Department prior to admission averaged 76.

Serum potassium responses to nebulized salbutamol administered during an acute asthmatic attack.

A prospective study of 20 patients presenting to an accident and emergency department with an exacerbation of pre-existing reversible airways disease was undertaken in order to determine whether such patients incurred any changes in their serum potassium following administration of 5 mg of nebulized salbutamol. Electrolytes were estimated before and 30 min after administration of nebulized salbutamol. No other drug was administered during this period.

Fractures of the distal phalanges.

A prospective study of 110 patients with fractures of the distal phalanx indicates that less than one in three patients with such injuries will have recovered after six months. Less than one half of distal phalangeal fractures will have united by then. Factors that carry a poor prognosis include osteolysis of fractured fragments, subungual haematomas and non-union of fractures.

Achilles paratendonitis: an evaluation of steroid injection.

A prospective, randomised, double-blind study of 28 patients presenting with Achilles paratendonitis was undertaken in order to evaluate the role of peritendonous injection of methy prednisolone acetate (Depo Medrone). At presentation patients were either administered peri-tendonous injection of 40 mgs of methyl prednisolone acetate suspended in 1 ml of 0.25% marcaine or 2 ml of 0.

Ultrasound assessment of the suspected scaphoid fracture.

A prospective study of 111 patients thought to have sustained a recent scaphoid fracture on clinical grounds but who were radiologically negative was undertaken over a period of 7 months. All such patients were subjected to ultrasound scanning within a week of their injury under double blind conditions. All patients were re-X-rayed 2-3 weeks after their injury.

The suspected fracture of the scaphoid: a rational approach to diagnosis.

It has been the policy of the accident and emergency department in Leicester to treat all clinically suspected fractures of the carpal scaphoid in plaster for 2 weeks, even after negative radiology. A preliminary audit of policy revealed that 150 wrists had been immobilized in plaster during a 6-month period and yet only eight fractures of the scaphoid were identified in this group. In order to reduce the degree of 'overkill' a new policy was introduced for the management of the clinically suspected, radiologically negative fracture of the scaphoid and results were assessed prospectively.