Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
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BACKGROUND: Hallervorden-Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase-associated neurodegeneration. In this study, we compared the clinical and radiographic features of patients with Hallervorden-Spatz syndrome with and without mutations in PANK2. METHODS: One hundred twenty-three patients from 98 families with a diagnosis of Hallervorden-Spatz syndrome were classified on the basis of clinical assessment as having classic disease (characterized by early onset with rapid progression) or atypical disease (later onset with slow progression). Their genomic DNA was sequenced for PANK2 mutations. RESULTS: All patients with classic Hallervorden-Spatz syndrome and one third of those with atypical disease had PANK2 mutations. Whereas almost all mutations in patients with atypical disease led to amino acid changes, those in patients with classic disease more often resulted in predicted protein truncation. Patients with atypical disease who had PANK2 mutations were more likely to have prominent speech-related and psychiatric symptoms than patients with classic disease or mutation-negative patients with atypical disease. In all patients with pantothenate kinase-associated neurodegeneration, whether classic or atypical, T2-weighted magnetic resonance imaging (MRI) of the brain showed a specific pattern of hyperintensity within the hypointense medial globus pallidus. This pattern was not seen in any patients without mutations. CONCLUSIONS: PANK2 mutations are associated with all cases of classic Hallervorden-Spatz syndrome and one third of cases of atypical disease. A specific MRI pattern distinguishes patients with PANK2 mutations. Predicted levels of pantothenate kinase 2 protein correlate with the severity of disease. (+info)
Gingival prostheses--a review.
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Gingival replacement is often a component of comprehensive prosthodontics. Gingival prostheses may be fixed or removable and may be made from acrylics, composite resins, silicones or porcelain-based materials. Undercuts or dental attachments are used to secure removable prostheses, which are esthetically pleasing and easy to maintain. This paper describes several clinical situations in which gingival prostheses were used effectively. (+info)
Discuss before fabricating: communicating the realities of partial denture therapy. Part II: clinical outcomes.
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The premise of this review is that patients' satisfaction (and hence compliance) with partial denture therapy may be better if they are more fully informed about the limitations of the prosthesis they are to receive. Neither the dentist nor the patient should assume that all of their respective expectations will be mutually understood and inherently met. By discussing patient-centred issues and predictable clinical outcomes, both dentist and patient will be better prepared to determine whether a removable prosthesis is appropriate. Searches of the Cochrane Collaboration and MEDLINE databases were conducted to identify issues pertaining to patient compliance in wearing cast removable partial dentures. In addition to the 2 most frequent patient concerns, esthetics and mastication, discussed in the first article of this series, additional aspects of concern to the dentist and the patient when considering a removable partial denture include overeruption, post-insertion care, comfort, longevity of the prosthesis, effect on speech and biologic consequences are discussed here. (+info)
Descriptive study of 192 adults with speech and language disturbances.
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CONTEXT: Aphasia is a very disabling condition caused by neurological diseases. In Brazil, we have little data on the profile of aphasics treated in rehabilitation centers. OBJECTIVE: To present a descriptive study of 192 patients, providing a reference sample of speech and language disturbances among Brazilians. DESIGN: Retrospective study. SETTING: Speech Pathology Unit linked to the Neurology Division of the Hospital das Clinicas of the Faculdade de Medicina da Universidade de Sao Paulo. SAMPLE: All patients (192) referred to our Speech Pathology service from 1995 to 2000. PROCEDURES: We collected data relating to demographic variables, etiology, language evaluation (functional evaluation, Boston Diagnostic Aphasia Examination, Boston Naming and Token Test), and neuroimaging studies. MAIN MEASUREMENTS: The results obtained in language tests and the clinical and neuroimaging data were organized and classified. Seventy aphasics were chosen for constructing a profile. Fourteen subjects with left single-lobe dysfunction were analyzed in detail. Seventeen aphasics were compared with 17 normal subjects, all performing the Token Test. RESULTS: One hundred subjects (52%) were men and 92 (48%) women. Their education varied from 0 to 16 years (average: 6.5; standard deviation: 4.53). We identified the lesion sites in 104 patients: 89% in the left hemisphere and 58% due to stroke. The incidence of aphasia was 70%; dysarthria and apraxia, 6%; functional alterations in communication, 17%; and 7% were normal. Statistically significant differences appeared when comparing the subgroup to controls in the Token Test. CONCLUSIONS: We believe that this sample contributes to a better understanding of neurological patients with speech and language disturbances and may be useful as a reference for health professionals involved in the rehabilitation of such disorders. (+info)
Follow-up of children of drug-addicted mothers.
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During a period of 2 years (1971-72) 19 newborn infants were admitted to hospital because their mothers were drug addicts. To evaluate the prognosis in these children, 17 were followed up by a social adviser, a psychologist, and a paediatrician. During the neonatal period 16 of the infants had withdrawal symptoms, for which 11 required medical treatment. One infant died of congenital malformations. Of the surviving 18 infants 14 were discharged to their mothers and 4 went to a children's home. During follow-up, which varied from up to 2 months to up to 2 years 8 months of age, 10 of the children had to be placed in a children's home for a period. No physical abnormalities were found in the children. Motor and perceptual development were normal in 12 but in 3 speech development was delayed. Five mothers ceased to take drugs after delivery and 2 had done so during early pregnancy. The pre- and perinatal complications and the undesirable environment in which the children grow up show the need for a comprehensive treatment programme. (+info)
The value of the aesthetic component of the Index of Orthodontic Treatment Need in the assessment of subjective orthodontic treatment need.
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Previous studies carried out using the Index of Orthodontic Treatment Need (IOTN) have reported that the Aesthetic Component (AC) has limited use in schoolchildren. The purpose of this study was to estimate whether dental concern expressed by the grade of the AC chosen by subjects is reliable and whether it may be predictive for potential co-operation. Such a correlation would indicate if the AC of the IOTN may help to identify individuals interested in orthodontic treatment who would co-operate well, and consequently who might derive the greatest benefits. The investigation was carried out in north-west Poland among 84 schoolchildren (42 girls and 42 boys) aged 12 years and was based on a questionnaire and clinical examination. The questionnaire contained items relating to the subjective assessment of dental appearance, demand for orthodontic treatment, the influence of the dentition on the general appearance, and any functional disorders (speech, mastication, muscular pain, etc.). Clinical examination was carried out at the schools each time by the same dentist. For statistical analysis chi-square (Yates corrected) and McNemar tests were used. A probability at the 5 per cent level or less (P < 0.05) was considered statistically significant. The outcome shows that the AC of the IOTN moderately reflects the subjective perception of dental aesthetics and demand for orthodontic treatment. The results indicate that using professional rating the AC scale does not seem to be more precise or reliable than self-evaluation. The correlation between dental concern and the AC would be higher if the 'no treatment need' category was split into two parts (e.g. 1-2 'no need', 3-4 'slight need') or the 'borderline need' category was moved two grades lower. The AC would then help to identify patients interested in treatment who would potentially be co-operative. (+info)
Conducting stroke research with an exception from the requirement for informed consent.
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BACKGROUND: Obtaining viable informed consent from stroke patients for participation in clinical trials of acute stroke therapies is often problematic because of patients' neurological deficits. Furthermore, obtaining permission from surrogates is often not possible or not legally permissible. SUMMARY OF REVIEW: In 1996 the Food and Drug Administration and Department of Health and Human Services published regulations that allow investigators to conduct emergency research without patient consent under a narrowly defined set of circumstances. We review requirements of these regulations, paying particular attention to how they may be applied in a clinical trial of an acute stroke therapy. CONCLUSIONS: Acute stroke researchers should consider conducting clinical trials with an exception from the informed consent requirement permitted by this law. (+info)
Experience assessment and management of pain in people with dementia.
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Pain is an inherently subjective experience that is difficult to prove. In a cognitively impaired older person whose verbal fluency is declining, both the experience and expression of pain are altered. Assessment poses many difficulties. Consequently the older person with dementia and pain may be under-treated and poorly managed. This review addresses each of these issues and makes recommendations for more effective care in the future. The search strategy for this review was carried out using Medline (1990-2002), Embase (1989-2001) and ClinPSYCH (1990-2001) databases. References cited within these sources were also reviewed. Searches were limited to English language studies. The quality of relevant studies retrieved was assessed and information from relevant papers synthesised using narrative summary. (+info)