Introduction: Whiplash-associated disorder grade 2 (WAD2) is characterised by musculoskeletal pain/tenderness but no apparent nerve injury. However, studies have found clinical features indicative of neuropathy and neuropathic pain. These studies may indicate peripheral nerve inflammation, since preclinical neuritis models found mechanical sensitivity in inflamed, intact nociceptors.
View Article and Find Full Text PDFSince the beginning of the COVID-19 pandemic, there has been an increased need for the development of novel diagnostic solutions that can accurately and rapidly detect SARS-CoV-2 infection. In this work, we demonstrate the targeting of viral oligonucleotide markers within minutes without the requirement of a polymerase chain reaction (PCR) amplification step the use of oligonucleotide-coated upconversion nanoparticles (UCNPs) and graphene oxide (GO).
View Article and Find Full Text PDFBackground: Telemental health (delivering mental health care via video calls, telephone calls, or SMS text messages) is becoming increasingly widespread. Telemental health appears to be useful and effective in providing care to some service users in some settings, especially during an emergency restricting face-to-face contact, such as the COVID-19 pandemic. However, important limitations have been reported, and telemental health implementation risks the reinforcement of pre-existing inequalities in service provision.
View Article and Find Full Text PDFThe world is still struggling to control the COVID-19 pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The level of uncertainty regarding the virus is still significantly high. The virus behaves differently in children and young adults.
View Article and Find Full Text PDFObjective: Copy number variation (CNV) has been associated with idiopathic short stature, small for gestational age and Silver-Russell syndrome (SRS). It has not been extensively investigated in growth hormone insensitivity (GHI; short stature, IGF-1 deficiency and normal/high GH) or previously in IGF-1 insensitivity (short stature, high/normal GH and IGF-1).
Design And Methods: Array comparative genomic hybridisation was performed with ~60 000 probe oligonucleotide array in GHI (n = 53) and IGF-1 insensitivity (n = 10) subjects.
Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range of reproductive phenotypes resulting from defects in the specification, migration and/or function of GnRH neurons. To identify additional molecular components of this system, we initiated a systematic genetic interrogation of families with isolated GnRH deficiency (IGD). Here, we report 13 families (12 autosomal dominant and one autosomal recessive) with an anosmic form of IGD (Kallmann syndrome) with loss-of-function mutations in TCF12, a locus also known to cause syndromic and non-syndromic craniosynostosis.
View Article and Find Full Text PDFBackground: Physical activity and self-monitoring are important for children with type 1 diabetes mellitus (T1DM) but it is unclear whether interventions delivered online are feasible, acceptable to patients and efficacious. The aim was to assess the feasibility and acceptability of an internet-based physical activity and self-monitoring programme for children with T1DM, and of a randomised controlled trial (RCT) to evaluate efficacy.
Methods: A total of 49 children aged 9-12 with T1DM were randomly assigned to usual care only or to an interactive intervention group combining a website (STAK-D) and a PolarActive activity watch (PAW; Polar Electro (UK) Ltd.
J Pediatr Endocrinol Metab
February 2019
Background The objective of the study was to evaluate the long-term outcome of paediatric-onset hyperthyroidism with follow-up into adulthood and to identify any early predictors of a need for definitive therapy (DT). Methods In a retrospective analysis of patients diagnosed with hyperthyroidism under the age of 18 years and at follow-up, a comparison was made by categorising them into those who underwent definitive therapy (DT group), i.e.
View Article and Find Full Text PDFBackground Whiplash following a motor vehicle accident can result in chronic neck and arm pain. Patients frequently present with cutaneous hypersensitivities and hypoesthesia, but without obvious clinical signs of nerve injury. T2-weighted magnetic resonance imaging (MRI) has previously been used to identify nerve pathology.
View Article and Find Full Text PDFUnlabelled: In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre.
View Article and Find Full Text PDFBackground: Regular physical activity has important health benefits for children with type 1 diabetes mellitus (T1DM), yet children and their parents face barriers to participation such as lack of self-efficacy or concerns around hypoglycaemia. Multimedia interventions are useful for educating children about their health and demonstrate potential to improve children's health-related self-efficacy, but few paediatric clinics offer web-based resources as part of routine care. The Steps to Active Kids with Diabetes (STAK-D) programme is an online intervention grounded in psychological theory (social cognitive theory) and informed by extensive preliminary research.
View Article and Find Full Text PDFIntroduction: Peripheral nerves slide and stretch during limb movements. Changes in nerve stiffness associated with such movements have not been examined in detail but may be important in understanding movement-evoked pain in patients with a variety of different musculoskeletal conditions.
Methods: Shear-wave elastography was used to examine stiffness in the median and tibial nerves of healthy individuals during postures used clinically to stretch these nerves.
Aims and method This questionnaire study aimed to investigate the reasons for choosing to specialise in psychiatry in a sample of consultant psychiatrists and core trainee psychiatrists from within the West Midlands. Results Five reasons were significantly different between the core trainees and consultant psychiatrists. 'Emphasis on the patient as a whole' was identified as the most important reason for choosing to specialise for both core trainees and consultants.
View Article and Find Full Text PDFBackground: The insulin-like growth factor 1 receptor (IGF IR) gene is located on chromosome 15q26.3. Heterozygous 15q26 deletions involving the IGFIR gene are rare, resulting in intrauterine and postnatal growth retardation, developmental delay and microcephaly.
View Article and Find Full Text PDFBackground: The 65-kD isoform of glutamic acid decarboxylase (GAD65) is a major autoantigen in type 1 diabetes. We hypothesized that alum-formulated GAD65 (GAD-alum) can preserve beta-cell function in patients with recent-onset type 1 diabetes.
Methods: We studied 334 patients, 10 to 20 years of age, with type 1 diabetes, fasting C-peptide levels of more than 0.
In this pilot study we use T2-weighted magnetic resonance imaging (MRI) to identify possible peripheral nerve inflammation in 4 patients with diffuse chronic pain. In all 4 patients, there was an increase in median and ulnar nerve T2 signal intensity at the wrist (P < 0.05 vs.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
January 2009
Objective: Homozygous mutations in the gene encoding the pituitary transcription factor PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice and humans with a highly variable phenotype with respect to the severity and time of initiation of pituitary hormone deficiency. We have ascertained three pedigrees with PROP1 mutations from a large cohort of patients with variable degrees of CPHD who were screened for mutations in PROP1.
Results: Affected individuals from all three pedigrees were found to harbour novel PROP1 mutations.
16S rDNA polymerase chain reaction (PCR) in the diagnosis of fastidious organisms is becoming increasingly commonplace. We present the case of a child admitted to an acute paediatric unit of a university teaching hospital with otorrhoea, torticollis, and cervical lymphadenopathy. Examination revealed hepatosplenomegaly associated with pancytopenia.
View Article and Find Full Text PDFIn patients with non-specific arm pain (NSAP; also known as repetitive strain injury), there are clinical signs of altered median nerve sliding. It is possible that a restriction along the nerve course will lead to abnormal increases in local strain during limb movements, possibly contributing to symptoms. The present study uses ultrasound imaging to examine median nerve sliding through the proximal and distal nerve segments in 18 NSAP patients.
View Article and Find Full Text PDFJ Endocrinol Invest
November 2006
Background: Increasing prevalence of childhood obesity has resulted in an accelerating rate of referrals of overweight patients to pediatric clinics for exclusion of endocrine or metabolic etiologies. The exclusion of Cushing's disease (CD) requires complex and potentially invasive investigations.
Objective: To evaluate the sensitivity of accurate measurements of height, weight and body mass index (BMI) in discriminating between simple obesity and CD.
Nerve sheath inflammation without significant axonal degeneration can result in c fibres (both axons in continuity and the nervi nervorum) becoming spontaneously active and mechanically sensitive. This may help explain the painful responses when examining neural dynamics in patients with non specific arm pain, carpal tunnel syndrome and arm pain following whiplash injury, when longitudinal nerve excursion (measured using ultrasound imaging), appears to be within normal ranges. These findings have implications for the clinical examination and treatment of these patients groups.
View Article and Find Full Text PDFBackground: Abnormalities of cognitive style in bipolar disorder are of both clinical and theoretical importance.
Aims: To compare cognitive style in people with affective disorders and in healthy controls.
Method: Self-rated questionnaires were administered to 118 individuals with bipolar I disorder, 265 with unipolar major recurrent depression and 268 healthy controls.
Background: Paediatric Cushing's disease (CD) is rare, but is associated with considerable morbidity and requires effective treatment. Control of hypercortisolaemia is recommended prior to definitive therapy by transsphenoidal pituitary surgery with selective adenomectomy. We describe a 6.
View Article and Find Full Text PDFAims/hypothesis: The islet microcirculation has morphological characteristics resembling those of renal glomeruli. Transcription of the nephrin gene, a highly specific barrier protein of the slit diaphragm of podocyte foot processes, has been reported in the pancreas, although its cellular localisation and function remain to be defined. In this study, we purified and characterised microvascular endothelial cells (MECs) isolated from human islets and investigated the expression and distribution of nephrin on these cells.
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