PubMed Health⌕ Search

Biomedical subjects

G Worley

Publications and source records attributed to G Worley.

At least 19 recordsLinked to original sources
PubMed2006

Do all epistaxis patients with a nasal pack need admission? A retrospective study of 116 patients managed in accident and emergency according to a peer reviewed protocol.

INTRODUCTION: Epistaxis is the most common nasal emergency and if nasal packing is required this commonly results in admission. METHODS: A literature search could find no published (UK) protocols for the management of this common condition in accident and emergency (A&E) departments. This paper presents a retrospective review of 116 patients with epistaxis, following implementation of the new peer reviewed protocol in June 2004. RESULTS: Apart from cautery, 62 had nasal packing inserted. Only 17 required admission. Forty-six patients were discharged with nasal packing in situ and only seven (16 per cent) returned due to bleeding. The overall return rate was 11 per cent. DISCUSSION: We feel this is a safe and logical protocol. Compared to mandatory admission after nasal pack insertion, we saved 39 admissions in five months. There were also the added benefits to patients of being able to recuperate at home rather than in hospital and avoidance of the risk of hospital acquired infection.

Adolescent↗
PubMed2006

Laser arytenoidectomy in children with bilateral vocal fold immobility.

Bilateral vocal fold immobility in children is a challenging problem because a balance between good airway and voice quality has to be achieved. Surgery to improve the airway is often postponed or avoided because of fear of losing the voice. In this study our results of laser arytenoidectomy in children are described. This was a retrospective case notes review at a tertiary level paediatric ENT department. The six patients in this case series ranged from nine to 16 years old at the time of laser arytenoidectomy. Post-operative airway and voice quality were assessed. All children in the series had an adequate post-operative airway. Four of these patients had tracheostomies pre-operatively and achieved decannulation. All six patients rated their post-operative voice as better than pre-operatively. This is principally due to increased loudness associated with increased airflow through the larynx, particularly after tracheostomy decannulation. It is recommended that special care should be taken not to disturb the anterior two thirds of the vocal fold during the surgery in order to achieve a good post-operative voice outcome.

Adolescent↗
PubMed2005

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50-70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are implicated. We present findings from a microsatellite based screen of 44 multiplex pedigrees ascertained through the NTD Collaborative Group. For the linkage analysis, we defined our phenotype narrowly by considering individuals with a lumbosacral level myelomeningocele as affected, then we expanded the phenotype to include all types of NTDs. Two point parametric analyses were performed using VITESSE and HOMOG. Multipoint parametric and nonparametric analyses were performed using ALLEGRO. Initial results identified chromosomes 7 and 10, both with maximum parametric multipoint lod scores (Mlod) >2.0. Chromosome 7 produced the highest score in the 24 cM interval between D7S3056 and D7S3051 (parametric Mlod 2.45; nonparametric Mlod 1.89). Further investigation demonstrated that results on chromosome 7 were being primarily driven by a single large pedigree (parametric Mlod 2.40). When this family was removed from analysis, chromosome 10 was the most interesting region, with a peak Mlod of 2.25 at D10S1731. Based on mouse human synteny, two candidate genes (Meox2, Twist1) were identified on chromosome 7. A review of public databases revealed three biologically plausible candidates (FGFR2, GFRA1, Pax2) on chromosome 10. The results from this screen provide valuable positional data for prioritisation of candidate gene assessment in future studies of NTDs.

Chromosomes, Human, Pair 10↗
PubMed2004

No association between the APOE gene and autism.

Autism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus on chromosome 19p13.2-q13.4. The apolipoprotein E (APOE) gene on chromosome 19 encodes for a protein, apoE, whose different isoforms (E2, E3, E4) influence neuronal growth. APOE participates in lipid transport and metabolism, repair, growth, and maintenance of axons and myelin during neuronal development. The APOE protein competes with the Reelin protein for VLDL/APOER2 receptor binding. Several studies have reported evidence for an association between autism and the Reelin gene. Based on these data we tested for association between APOE and autism using family-based association methods in a data set of 322 autism families. Three promoter, one intronic, and one 3' UTR single nucleotide polymorphisms (SNPs) in the APOE gene (-491a/t, -427c/t, -219g/t, 113c/g, and 5361c/t) as well as the APOE functional polymorphism (E2, E3, E4) were examined and failed to reveal significant evidence that autism is associated with APOE.

Apolipoproteins E↗
PubMed2001

Acute abdominal symptoms and signs in children and young adults with spina bifida: ten years' experience.

BACKGROUND/PURPOSE: Diagnosis and management of the acute abdomen in patients with spina bifida (SB) can be problematic. There are at least 4 clinical factors that can predispose to the development of acute abdominal symptoms and signs, and patients with a thoracic level lesion can have a partially insensate abdomen. The authors analyzed their accumulated experience to determine the annual incidence of acute abdominal signs and symptoms in children and young adults with spina bifida, the differential diagnosis, the operative management, and the outcome. The pertinent literature was reviewed. METHODS: Cases were ascertained during a 10-year period at 1 institution and reviewed retrospectively. RESULTS: Twenty-two episodes of acute abdominal symptoms and signs in 19 children and young adults with SB were ascertained over 10 years at 1 institution, for an annual incidence of 0.74%. More patients had a thoracic level lesion (n = 12; 60%) than in the clinic population as a whole (27%; P =.04), but the gender distribution was similar (58% girls), as was the prevalence of ventriculoperitoneal shunts (VPS; 95%). The median age was 13 years (range, 1 year to 26 years). Hospitalization was necessary for 19 (86%) of the 22 episodes. The duration of symptoms before diagnosis was a median of 3 days (range, 1 to 14 days). Most patients (82%) presented with abdominal pain. Fever was present in 27%, shock in 23%, and peritoneal signs in 23%. There were 14 different final diagnoses, 10 (71%) of which were associated with a predisposing factor. Of the 22 episodes, 18 (82%) could be attributed to an underlying factor: (1) neurogenic bladder (9; 41%); (2) neurogenic bowel (3; 14%); (3) VPS (4; 18%); (4) complications from previous surgery (2; 9%). Thirteen patients (59%) underwent a total of 20 surgical procedures of 12 different kinds. Despite awareness of the complexities involved, 3 patients (14%) died: 1 from complications resulting from bladder perforation; 1 from urosepsis and shock; and 1 from peritonitis caused by VPS infection. CONCLUSION: The differential diagnosis of the acute abdomen in patients with SB is broad, conditions requiring surgery are frequently diagnosed, and the mortality rate is substantial, despite aggressive management.

Abdomen, Acute↗
PubMed2001

Frequency of celiac disease in individuals with Down syndrome in the United States.

Ninety-three individuals with Down syndrome (DS) were screened to investigate the prevalence of celiac disease (CD) in the United States. Five of the 93 individuals were antiendomysial antibody (EMA) positive. Of the 5 who tested positive for EMA, 4 were biopsied, 1 refused biopsy. Three of the 4 individuals biopsied manifested changes of CD on small bowel biopsy. This gives a frequency of 3.2% of confirmed CD in our DS individuals and suggests the need for periodic screening for celiac disease in this population.

Adolescent↗
PubMed2000

Genetic studies in neural tube defects. NTD Collaborative Group.

Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families.

Animals↗
PubMed1999

Cimetidine treatment for recurrent respiratory papillomatosis.

Effective adjuvant treatment for recurrent respiratory papillomatosis (RRP) is at present limited to alpha-interferon, which may have significant side effects including rebound growth of papillomata following its withdrawal, is given by injection and is expensive. High dose cimetidine is known to have immunomodulatory side effects and has been reported as a useful treatment for cutaneous warts. We report a case of very advanced RRP with tracheo-bronchial-pulmonary involvement treated with adjuvant cimetidine at a dose of 40 mg/kg for 4 months. The patient enjoyed a remarkable improvement in her clinical condition following treatment. The literature regarding cimetidine treatment for cutaneous warts is reviewed.

Adjuvants, Immunologic↗
PubMed1999

Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.

Neural tube defects are a common, complex disorder with genetic and environmental components to risk. We investigated the previously reported interaction between homozygosity for the thermolabile variant at the methylenetetrahydrofolate reductase and heterozygosity for the 844ins68 allele at the cystathionine beta-synthase loci in cases with lumbosacral myelomeningocele and their parents. Using control allele frequencies from our sample pooled with those published in the literature, we confirm a marginally significant interaction at these two loci. This finding suggests that additional, larger studies are warranted to investigate this possible interaction in more detail.

Alleles↗
PubMed1998

Hypophosphatemia in malnourished children during refeeding.

Hypophosphatemia in malnourished children during nutritional recovery (refeeding hypophosphatemia) is recognized as a cause of morbidity and mortality in adolescents with anorexia nervosa but has been only rarely reported to occur in younger children with other diagnoses. Over a 6-year period, we encountered three cases of refeeding hypophosphatemia in malnourished children admitted to a pediatric rehabilitation hospital. Two children had neurologic dysphagia and one had been starved by an abusive parent. The one patient who was symptomatic had obtundation, hemolytic anemia, rhabdomyolysis, and hepatocellular injury that began during refeeding and resolved with treatment. The signs and symptoms, pathophysiology, and treatment of refeeding hypophosphatemia are reviewed.

Child↗
PubMed1997

The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group.

Mutations in the gene for methylenetetrahydrofolate reductase (MTHFR) have been implicated as a risk factor in the formation of neural tube defects. We investigated this gene in a series of 65 sporadic American Caucasian patients with lumbosacral NTD and their unaffected parents, using both case-control design and assessment of linkage disequilibrium. We found no evidence to support mutations in MTHFR as a significant risk factor for NTD in this population.

Alleles↗
PubMed1996

Delayed development of sensorineural hearing loss after neonatal hyperbilirubinemia: a case report with brain magnetic resonance imaging.

Sensorineural hearing loss has long been known to be a clinical consequence of kernicterus. Brainstem auditory evoked potentials (BAEPs) that occur in hyperbilirubinemic infants, can be reversed in the neonatal period by exchange transfusion. The case was reported in an infant with neonatal hyperbilirubinemia from hemolysis due to glucose-6-phosphate dehydrogenase (G6PD) deficiency and napthalene exposure. BAEPs showed that the baby had normal hearing at 30 decibels at 13 days of age, after exchange transfusions, but had developed profound bilateral sensorineural hearing loss by 7 months of age. The brain magnetic resonance imaging (MRI) findings at 7 months are also presented.

Cochlea↗
PubMed1996

Survival at 5 years of a cohort of newborn infants with myelomeningocele.

Over a nine-year period, 63 viable newborns with myelomeningocele were consecutively treated, of whom 11 (17%) developed brainstem symptoms assessed to be potentially life-threatening. All 11 underwent brainstem decompression by cervical laminectomy with stent placement between the fourth ventricle and the spinal subarachnoid space, at a median age of 8 months. 86% survived to 60 months of age. Those with brainstem dysfunction had a significantly greater mortality than those without, despite aggressive neurosurgical management by brainstem decompression.

Brain Stem↗
PubMed1996

Sexual function and erection capability among young men with spina bifida.

In a study of sexual function and erection capability, 15 young men with spina bifida were interviewed, underwent physical examination, and completed two consecutive night recordings of penile tumescence and rigidity with the Rigi-Scan (Dacomed Inc.). Eleven reported erections with stimulation. Rigi-Scan data showed that two subjects (both with lesions at the sacral level) had normal numbers and durations of erections, that seven others had abnormally brief and infrequent nocturnal erections, and that six had none. Ten subjects had at least 'some' glans sensation on physical examination. Self-reported erection capability was related to motor level and glans sensation. The number of nocturnal erections was related to sensory level. The study suggests that lower motor and sensory levels are associated with greater potential sexual function in males with spina bifida.

Adolescent↗
PubMed1995

18-Fluorodeoxyglucose positron emission tomography in children and adolescents with traumatic brain injury.

Twenty-two previously normal children and adolescents who suffered a severe, non-penetrating traumatic brain injury had PET during rehabilitation at a median of 1.5 months after the injury. Outcome was assessed at a median of 25 months after brain injury. 16 subjects had CT or MRI within 24 days of PET and 11 subjects had a second PET at the point of outcome (median 28 months after first PET). The PET score (obtained by adding the score of 15 brain regions: normal metabolism = 1; reduced = 0) was significantly associated with the clinical outcome measure. PET earlier than 12 weeks after head trauma correlated with outcome, but later PET did not. PET scores improved significantly between rehabilitation and outcome for the 11 subjects who had two PETs, but improvement was not associated with improvement in clinical condition. PET score did not add to the amount of variance explained in the last regression model for prediction of outcome when the results of contemporaneous CT/MRI and clinical condition were taken into account. The data suggest that routine PET during rehabilitation is no more useful than contemporaneous CT or MRI for prediction of outcome.

Brain Injuries↗
PubMed1994

BAEPs in infants with myelomeningocele and later development of Chiari II malformation-related brainstem dysfunction.

Thirty-seven infants with myelomeningocele received brainstem auditory evoked potentials (BAEPs) at a median age of eight days. No infant had brainstem dysfunction at the time of testing. Median follow-up was at 30 months. Of 12 infants who subsequently developed brainstem dysfunction at a median age of three months, 11 had had abnormal neonatal BAEPs. In contrast, only 10 of 25 infants who did not develop brainstem dysfunction had abnormal BAEPs. The mean average I-V interpeak latencies was greater among those who developed symptoms than among those who did not. Neonatal BAEPs can identify a group of asymptomatic infants with myelomeningocele who need close follow-up for the subsequent development of brainstem dysfunction.

Arnold-Chiari Malformation↗