Biomedical subjects

Ellen Crushell

Publications and source records attributed to Ellen Crushell.

7 recordsLinked to original sources

PubMed2006

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

OBJECTIVE: To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population. METHODS: All patients were identified through paediatricians and endocrinologists in Ireland. Patients were invited to attend a multidisciplinary clinic. RESULTS: Thirty-one patients (2-56 years), 18 female, were identified from 19 families giving an Irish prevalence of 1:130,000. Twenty-six patients had hypoparathyroidism, 21 had adrenal insufficiency (AI) and 10 of 16 had ovarian failure. Three affected patients have died. Many with hypoparathyroidism were resistant to 1-alpha-vitamin D. Two needed daily PTH injections. Mineralocorticoid deficiency as the first manifestation of AI was common. Chronic intra-oral candidiasis affected 25 patients and three had leukoplakia. Two had keratoconjuntivitis. Of 22 with AIRE gene analysis, three different mutations were identified, one of which is novel. CONCLUSION: APECED is rare in Ireland. We saw a significant amount of non-endocrine disease but no ectodermal dystrophy. AIRE gene analysis reassured many siblings and identified individuals with APECED prior to any symptoms.

Adolescent↗

PubMed2005

A prospective study of the oral manifestations of Crohn's disease.

BACKGROUND & AIMS: Recent studies suggest that the mouth may be involved frequently in patients with Crohn's disease (CD). The aim of this study was to document prospectively the proportion of children with oral lesions at diagnosis of CD, to describe the type of lesions found, and to examine the ability of gastroenterologists to identify correctly oral Crohn's manifestations. METHODS: In a prospective 3-year study, systematic dental examinations were performed on all children with suspected inflammatory bowel disease. Each child underwent upper endoscopy, colonoscopy, and barium follow-through radiography. RESULTS: Forty-eight of 49 children with CD were examined by the dentist. Oral CD was found in 20 patients (41.7%). Oral findings included mucogingivitis (12 patients), mucosal tags (4 patients), deep ulceration (4 patients), cobblestoning (3 patients), lip swelling (3 patients), and pyostomatitis vegetans (1 patient). Noncaseating granulomas were found in all 8 oral biopsy specimens from oral CD lesions (100%). Two patients with granulomas in oral biopsy specimens had no granulomas found in any other biopsy specimens. The presence of oral manifestations was associated with perianal disease. In only 9 patients (45%) with oral CD was the mouth found to be abnormal by the consultant gastroenterologists. Only nonspecific oral changes were seen in children with ulcerative colitis and indeterminate colitis. CONCLUSIONS: More than one third of all children presenting with CD had involvement of the mouth. The ability of physicians to recognize oral lesions was poor. Expert dental evaluation may be useful during the investigation of patients with suspected inflammatory bowel disease.

Adolescent↗

PubMed2004

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.

Antley-Bixler syndrome (ABS, MIM 207410) is a skeletal abnormality syndrome primarily affecting head and limbs. Little is known of the origin of the condition but inactivating mutations in the fibroblast growth factor receptor (FGFR2) has been found in some patients. Genital ambiguity is seen occasionally in this condition, suggesting possible disordered steroidogenesis in early pregnancy. We report the steroid excretion of eight patients diagnosed with the syndrome and one with a related condition, a mild phenotype of the disorder since skeletal and genital abnormalities were not evident. The steroid excretion pattern was consistent and very distinctive in all nine patients. Metabolites of the two primary precursors of steroid hormones, pregnenolone and progesterone, were elevated as were the classical diagnostic metabolites for 17- and 21-hydroxylase deficiencies. Cortisol production was typically within the normal range but generally had blunted response to ACTH. Androgen metabolite excretion tends to be low in patients over 2 months of age, but may be elevated in the newborn period. The metabolome suggested attenuated steroid hydroxylation (including 17,20-lyase activity) although underlying cause is yet to be established. Mutations in CYP17 and CYP21 have not been found and currently the prime suspect is an abnormality in an essential redox partner (P450 oxidoreductase). This paper proposes use of the distinctive steroid metabolome as the primary biochemical parameter for diagnosis of ABS, at least the form not associated with FGFR2 mutations.

Abnormalities, Multiple↗

PubMed2004

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to mutations in the FGD1 gene. However, although AAS may be considered as a relatively frequent clinical diagnosis, mutations have been established in few patients. Genetic heterogeneity and the clinical overlap with a number of other syndromes might explain this discrepancy. In this study, we have conducted a single-strand conformation polymorphism (SSCP) analysis of the entire coding region of FGD1 in 46 AAS patients and identified eight novel mutations, including one insertion, four deletions and three missense mutations (19.56% detection rate). One mutation (528insC) was found in two independent families. The mutations are scattered all along the coding sequence. Phenotypically, all affected males present with the characteristic AAS phenotype. FGD1 mutations were not associated with severe mental retardation. However, neuropsychiatric disorders, mainly behavioural and learning problems in childhood, were observed in five out of 12 mutated individuals. The current study provides further evidence that mutations of FGD1 may cause AAS and expands the spectrum of disease-causing mutations. The importance of considering the neuropsychological phenotype of AAS patients is discussed.

Adolescent↗

PubMed2003

Enteric campylobacter: purging its secrets?

Campylobacterial infections are the most common cause of bacterial enterocolitis in humans. Among children, especially in developing countries, Campylobacter infections can cause severe life-threatening diarrheal disease. Although usually associated with a benign outcome in the developed world, the burden of illness posed by Campylobacter infections is enormous, and serious neurologic sequelae also can occur. For a variety of reasons our understanding of the molecular and cellular pathogenesis of Campylobacter infection has lagged far behind that of other enteric pathogens. However, recent completion of the genome sequence of Campylobacter jejuni promises to open up the Campylobacter research field with the prospect of developing novel therapeutic and preventive strategies.

Campylobacter Infections↗

PubMed2003

Importance of parental conceptual model of illness in severe recurrent abdominal pain.

OBJECTIVES: Recurrent abdominal pain (RAP) affects up to 15% of children. A biopsychosocial approach to the treatment of children with RAP has been proposed as an alternative to the traditional medical model. The aim of this study was to examine whether the parental conceptual model of illness is a factor in the long-term outcome of children with severe RAP. METHODS: The study was undertaken in 2 parts: 1) a review of the medical and psychiatric records (including Child Behavior Checklist [CBCL]) of all children with RAP of sufficient severity to necessitate hospitalization during a 5-year period and 2) a structured telephone interview to collect information on ongoing abdominal pain, other somatic symptoms, school attendance, and the parents' opinion as to the cause of the child's pain. RESULTS: Twenty-eight of 30 children who were identified were available for follow-up. Twenty-three (82%) were tertiary referrals from other pediatric services, and 20 had pain for >6 months. On admission 7 (25%) of 28 had a depressive disorder, and 8 (29%) had an anxiety/depressive disorder. Twenty-one of 28 parents completed the CBCL, and on analysis of the CBCL, 11 (52%) children had scores in the clinical range (>65). At follow-up (mean: 3.56 years; standard deviation: 1.59), 14 (50%) of 28 continued to complain of pain. These children also complained of multiple other somatic complaints and had repeated school absences. Only 1 (7%) of 14 parents of children with ongoing pain believed that there was a psychological cause for their child's pain, whereas 11 (78%) of 14 parents of the children who had recovered believed that the cause was attributable to psychological factors (odds ratio: 47.67; 95% confidence interval: 3.56-1511.6). CONCLUSIONS: The acceptance by parents of a biopsychosocial model of illness is important for the resolution of recurrent abdominal pain in children.

Abdominal Pain↗

PubMed2002

Occlusion of an aberrant artery to a pulmonary sequestration using a duct occluder.

This report describes a female infant with a rare chromosome defect, del. 12 (q22-24.1), who has severe pulmonary valve stenosis, an atrial septal defect, and a small muscular ventricular septal defect. At 4 months of age a balloon pulmonary valvuloplasty was performed in the cardiac catheterization laboratory. During the procedure, a large aberrant artery from the aorta to a sequestration of the right lower lobe of lung was found. The flow-off from the sequestration was into a dilated left atrium. The single artery supplying the sequestration was successfully occluded using an Amplatzer Duct Occluder device. There were no complications and the infant remains well at 1-year follow-up.

Bronchopulmonary Sequestration↗