Biomedical subjects

Padraig Fleming

Publications and source records attributed to Padraig Fleming.

4 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

Congenital insensitivity to pain--review and report of a case with dental implications.

Pain is a protective mechanism for the body. Absence of pain is a symptom in several disorders, both congenital and acquired. The congenital types are present at birth and affect the number and distribution of types of nerve fibers. At present, 5 types of hereditary sensory and autonomic neuropathies have been identified. The various disorders within this group are classified according to the different patterns of sensory and autonomic dysfunction and peripheral neuropathy and the presence of additional clinical features such as learning disability. However, the field is currently moving away from classification based on clinical presentation toward classification based on underlying genetic abnormality. In the absence of pain, patients are at risk of late presentation with illnesses or injuries, and have an increased incidence of traumatic injury. Self-mutilation is an almost invariable feature of these disorders. We report the case of a patient with congenital insensitivity to pain that presented with self-mutilation injuries to his hands and oral tissues caused by biting. The severe nature of these injuries necessitated serial extraction of his primary teeth soon after eruption, which led to a cessation of the problem. The mutilation has not returned following the eruption of the first of his permanent teeth, suggesting that he has learned not to bite himself, even though to do so causes him no discomfort.

Bites, Human↗

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↗

PubMedDate not supplied

Dentoalveolar trauma in a patient with chronic idiopathic thrombocytopenic purpura: a case report.

A case is presented of a 13-year-old boy with chronic idiopathic thrombocytopenic purpura (ITP) who sustained traumatic labial luxation of both lower central incisors, with partial alveolar fracture resulting in displacement of the labial alveolar plate. Intravenous immunoglobulin (Fleibogamma, 1 g/kg body weight x 2 days) was administered, resulting in the patient's platelet count rising from 15,000/mm3 to 70,000/mm3. Under general anesthesia, the displaced lower labial alveolus and luxated teeth were repositioned and splinted 2 days following trauma. Healing was uneventful. Subsequently, both lower central incisors became nonvital and were endodontically treated. The dental treatment of this patient with ITP is discussed in terms of emergency management, and subsequent care.

Adolescent↗