| 1. |
- Wang, CH, et al.
(författare)
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Consensus statement on standard of care for congenital myopathies
- 2012
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Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 27:3, s. 363-382
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Tidskriftsartikel (refereegranskat)abstract
- Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee’s recommendations for symptom assessments and therapeutic interventions. It is the committee’s goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.
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| 2. |
- Wang, CH, et al.
(författare)
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Consensus statement on standard of care for congenital muscular dystrophies
- 2010
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Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:12, s. 1559-1581
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Tidskriftsartikel (refereegranskat)abstract
- Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.
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| 3. |
- Bågesund, Mats, et al.
(författare)
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Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1
- 2015
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Ingår i: Special Care in Dentistry. - : Wiley-Blackwell. - 0275-1879. ; 35:2, s. 83-89
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Tidskriftsartikel (refereegranskat)abstract
- Aagenaes syndrome/lymphedema cholestasis syndrome 1 (LCS1) is a rare genetic disorder characterized by neonatal cholestasis and lymphedema. The aim was to assess dental care and oral health in adults with LCS1. Fifteen (9M, 6F) individuals diagnosed with LCS1, aged 19-59 years participated. The study evaluated salivary secretion rate, dental radiographs, intraoral photos and included a questionnaire. Eight (53%) had regular dental checkups. Three had received subsidized dental care. Seven (47%) had two or more subjective symptoms of xerostomia. Three (20%) had a decreased stimulated salivary secretion rate below 0.7 mL/minute. Seven (47%) had dentin caries. Marginal periodontitis was found in all six patients above 35 years of age, but not before that age. Thirteen (87%) had tooth discoloration, which was extensive in three (20%). Conclusion. Several patients with LCS1 have problems with periodontitis and tooth discoloration. Frequent dental checkups are therefore recommended. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.
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| 4. |
- Lindau, B, et al.
(författare)
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Discrimination of morphological findings in dentine from osteogenesis imperfecta patients using combinations of polarized light microscopy, microradiography and scanning electron microscopy.
- 1999
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Ingår i: International Journal of Paediatric Dentistry. - 0960-7439 .- 1365-263X. ; 9:4, s. 253-61
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: The aim of this study was to investigate the morphological appearance of dentine in teeth from individuals with osteogenesis imperfecta type I, III and IV using different histological techniques, and to correlate morphological findings to different types of osteogenesis imperfecta. SAMPLE AND METHODS: Extracted or exfoliated primary and permanent teeth were collected from 15 patients with the osteogenesis imperfecta diagnoses I, III or IV, with or without the additional diagnosis dentinogenesis imperfecta. Ground and decalcified sections were prepared from the teeth. Histo-morphological studies of the dentine were performed utilizing light and polarized light microscopy, microradiography and scanning electron microscopy. RESULTS: Characteristic findings were irregular tubules, remnants of capillary inclusions and obliterated pulps. All types of osteogenesis imperfecta exhibited similar types of dentine aberrations, but patients with type III or IV had a higher frequency of aberrations when compared to type I. CONCLUSIONS: The combination of either polarized light microscopy or micro-radiography, together with scanning electron microscopy, gave the most amount of morphological information from dentine samples. In addition, aberrations in dentine structure were more clearly observable. Light microscopy was not critical for the analyses.
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| 5. |
- Lindau, B M, et al.
(författare)
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Morphology of dental enamel and dentine-enamel junction in osteogenesis imperfecta.
- 1999
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Ingår i: International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children. - 0960-7439. ; 9:1, s. 13-21
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: The aim of this study was to examine the morphology of primary and permanent human enamel, and the dentine-enamel junction, in individuals with osteogenesis imperfecta (OI) type I, III and IV in undecalcified sections using polarized light microscopy, microradiography and scanning electron microscopy (SEM), and to relate the findings to the type of OI. SAMPLE AND METHODS: Extracted or exfoliated teeth from 15 patients representing the OI types I, III and IV (12 primary teeth from seven patients, and 11 permanent teeth from eight patients). Ten primary and nine permanent teeth from normal healthy patients served as controls. The teeth were serially cut longitudinally in a bucco-lingual direction and contact microradiographs were made. The sections were examined in polarized light. Sections of primary and permanent teeth were examined by means of SEM. RESULTS: This study shows that the permanent enamel from patients with OI exhibits few structural changes. No relationships were found between enamel morphology and the types of OI (I, III, IV). Primary enamel appeared to be slightly more irregularly mineralized, especially in cases with the additional diagnosis dentinogenesis imperfecta. The major findings were deviations in association with the dentine-enamel junction, and locally a lower degree of mineralization. CONCLUSIONS: The mesodermal disease OI might also be manifested in ectodermal enamel, probably because of suboptimal mesenchymal-ectodermal interactions during amelogenesis.
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