Publications by authors named "Seeley H"

Article Synopsis
  • - Pseudohypoparathyroidism type 1B (PHP1B) is caused by epigenetic changes affecting the GNAS gene, leading to parathyroid hormone resistance, especially in kidney cells due to inhibited Gsα protein expression from the maternal allele.
  • - Genetic defects in PHP1B patients include loss of methylation in specific regions and additional methylation issues in some, prompting researchers to identify the genetic basis for autosomal dominant PHP1B in families with complex GNAS methylation problems.
  • - Genome sequencing highlighted small GNAS variants and a microdeletion in affected families that possibly alter AS transcript expression, leading to reduced NESP transcription, thus suggesting a mechanism behind PHP1B development.
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Objective: To evaluate the efficacy and safety of radiofrequency ablation (RFA) for benign nonfunctional thyroid nodules or functional lingual thyroid gland in a pediatric population.

Methods: Four pediatric patients (four female; mean age 13.50 ± 4.

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Novel use of vandetanib in a child with aggressive MTC with prolonged response to treatment.

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Devices for near-infrared light stimulation of autofluorescence (NIRAF) allow for intraoperative identification of parathyroid glands with high sensitivity in adults. However, their performance in the pediatric population is unknown. In this case series with chart review at a tertiary academic children's hospital, we investigated pediatric patients undergoing thyroid surgery and concurrent use of a probe-based NIRAF device.

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Importance: Thyroid cancer is the most common pediatric endocrine malignant neoplasm. Disparities in the workup of thyroid nodules may be significantly associated with thyroid cancer outcomes.

Objective: To determine the association of sociodemographic factors with the odds of receiving a biopsy, timeliness of the procedure, and risk of nodule malignancy.

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Objectives: To determine current epidemiology and clinical characteristics of cerebrospinal fluid (CSF) shunt surgery, including revisions.

Methods: A retrospective, multicentre, registry-based study was conducted based on 10 years' data from the UK Shunt Registry, including primary and revision shunting procedures reported between 2004 and 2013. Incidence rates of primary shunts, descriptive statistics and shunt revision rates were calculated stratified by age group, geographical region and year of operation.

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Objective: To examine the epidemiology of referrals to a specialist neurotrauma clinic and explore and highlight implications for clinical practice and service development for persons with head injury/traumatic brain injury (HI/TBI).

Design And Methods: A retrospective population-based cohort study of all referrals to a specialist neurotrauma clinic over a 9-year period. Data from a specialist head injury database (which included all persons presenting to hospital with traumatic brain injury) were analysed.

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Purpose: The Myelopathy Disability Index and the Neck Disability Index are widely used to assess outcome in cervical spine surgery. Short Form (SF) 36 is a generic measure of health which can be used to measure health gains across a wide variety of conditions. The aim of the current study is to assess long-term outcomes using these measures in a cohort of patients with cervical spondylotic myelopathy (CSM).

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Objectives: To survey the attendance of patients presenting with a head injury (HI) at a UK emergency department (ED), identifying numbers, types of service and referral routes; to survey subsequent service use and to highlight the challenges in service planning and identifying which patients may potentially benefit from follow-up/rehabilitation input.

Design: A retrospective population-based case series study using multiple prospective and retrospective data sources.

Methods: Adults from the National Health Service (NHS) Cambridgeshire catchment area attending an ED over a 6-month period with a HI were identified from detailed ED reports, and any service use within the hospital after injury was tracked using a number of data sources.

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Objectives: To examine the completeness of data on admission with head injury at a Regional Neuroscience Centre.

Design: A comparative study using retrospective and prospective data sources.

Subjects: All adults admitted to all specialties with all severities of head injury.

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Pupillary abnormalities are commonly seen in patients presenting with severe traumatic brain injury (TBI). The objectives of this study were to determine the underlying condition responsible, the natural history of recovery of third nerve palsy and the ultimate clinical outcome in 60 patients admitted to a regional neurosurgical centre with a diagnosis of TBI and unilateral or bilateral fixed, dilated pupils (FDP). In approximately three-quarters of cases, some form of road traffic incident was the mechanism of injury.

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Summary Of Background Data: Physical outcomes following surgery for degenerative spine disease have been well studied whereas the importance of psychological factors has only recently been acknowledged. Previous studies suggest that pre-operative psychological distress predicts poor outcome from spinal surgery. In the drive to identify patients who will not benefit, these patients risk being denied surgery.

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Article Synopsis
  • - The article discusses three siblings diagnosed with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), highlighting their different clinical signs despite having the same genetic issue.
  • - A detailed review of their medical records revealed that all three carried a new homozygous mutation in the CLDN16 gene, indicating a shared genetic origin for their condition.
  • - The report emphasizes the importance of this mutation, suggesting that other genetic or epigenetic factors may contribute to the variability in the disease's symptoms and underscores the complexity of genotype-phenotype relationships in FHHNC.
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Measuring health-related quality of life (HRQoL) has an important role in the comprehensive assessment of patient recovery following traumatic brain injury (TBI). We examined the validity of domain and summary scores derived from the Medical Outcomes Survey 36-Item Short Form Health Questionnaire (SF-36) as outcome measures for TBI in a prospective study of 514 patients with a range of functional impairment (Glasgow Outcome Scale-Extended [GOSE] scores 3-8). Item scaling criteria for the eight domain scores were tested and principal component analysis was used to examine if physical and mental component summary scores were valid.

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Background: The Roland-Morris disability scale (RMS) for disability secondary to low back pain is a validated and popular instrument in clinical practice and research. We have made a simple modification to the questionnaire to increase sensitivity to sciatica (RMS-L) and validated this in patients with lumbar disc prolapse and radiculopathy.

Methods: The original RMS and modified RMS-L were prospectively administered to 203 patients presenting with lumbar radiculopathy and intervertebral disc prolapse demonstrated on MRI.

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Survivors of head injury are often left with varying degrees of disability and complex and varied needs, necessitating prolonged periods of rehabilitation and continuing care. Advances have been made in the acute management of these patients, but continuing management in terms of rehabilitation remains deficient with lack of specialist resources and a fragmented service. For head-injured patients, lack of access to appropriate ongoing rehabilitation may have profound effects on outcome and social re-integration.

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Object: In recent years CSF shunt catheters impregnated with rifampicin and clindamycin have been introduced to the United Kingdom (UK) market. These catheters have been shown to be effective in vitro against cultures of Staphylococcus epidermidis. The authors used data collected by the UK Shunt Registry to assess the efficacy of antibiotic-impregnated catheters (AICs) against shunt infection by using a matched-pair study design.

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Health-Related Quality of Life (HRQoL) assessments in spinal disease offer the potential of outcome measures that better represent patients' disability and response to treatment. The Short Form 36 Health Survey (SF-36) is a generic HRQoL questionnaire that has been extensively used in primary and secondary care, but before it can be routinely applied in patients with spinal disease must be validated against traditional specific measures of physical and mental morbidity. Patients with lumbar disc prolapse, lumbar canal stenosis, and cervical spondylotic radiculomyelopathy were identified from a prospectively maintained database.

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This paper describes the experiences of the Eastern Head Injury Study in creating a strategic regional head injury service framework using a collaborative action research methodology. The types of data, information and knowledge required to develop and support such a framework for both development and successful implementation are identified. This includes the identification of existing knowledge/information systems, the variability and gaps in these, and how the systems fit together, using a number of evidence-gathering and knowledge-sharing methods.

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Establishing standardized methods to assess outcome is needed to measure the effectiveness of surgery in relieving symptoms and improving quality of life. We prospectively studied 203 patients undergoing primary lumbar discectomy. Data was collected before surgery, at 3 months postoperatively and at long-term follow-up (12-60 months, median 24) using both disease-specific (visual analogue scores, Roland-Morris disability scales, and Hospital Anxiety and Depression scales) and generic (SF-36) instruments.

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The aim of this article is to propose standards for data collection in head injury, the commonest cause of death and disability in young people. The objectives include evaluation of an audit methodology. The retrospective review conducted for the Eastern Head Injury Study in the UK identified a variety of problems, notably ambiguous terminology, inadequacies in ICD-10 codes, and inconsistent practices in recording data on head injury.

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Lumbar canal stenosis (LCS) is a common condition affecting elderly patients for which a significant number undergo surgery. The validity and safety of simple laminectomy in this condition is not fully understood. Furthermore, the presence of pre-existing spondylolisthesis is controversial with respect to the need for additional spinal stabilization.

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Patients undergoing neurosurgical intervention may require different types of organized rehabilitation. A prospective study was performed of the care needs of neurosurgical inpatients between the ages of 16 and 70 years who were in acute wards for more than 2 weeks. Only 58% of bed occupancy days were devoted to essential acute neurosurgical ward management.

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