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At least 199 records · Page 11Linked to original sources
PubMed2002

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

BACKGROUND: Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis (MFD), is genetically homogeneous. Other types of MFD are less common and, of these, only the Bauru type of MFD has an autosomal dominant (AD) mode of inheritance established. Here we report clinical features of a kindred with a unique AD MFD with the exclusion of linkage to the TCS locus (TCOF1) on chromosome 5q31-q32. METHODS: Six affected family members underwent a complete medical genetics physical examination and two affected subjects had skeletal survey. All available medical records were reviewed. Linkage analysis using the markers spanning the TCOF1 locus was performed. One typically affected family member had a high resolution karyotype. RESULTS: Affected subjects had significant craniofacial abnormalities without any significant acral changes and thus had a phenotype consistent with a MFD variant. Distinctive features included hypoplasia of the zygomatic complex, micrognathia with malocclusion, auricular abnormalities with conductive hearing loss, and ptosis. Significantly negative two point lod scores were obtained for markers spanning the TCOF1 locus, excluding the possibility that the disease in our kindred is allelic with TCS. High resolution karyotype was normal. CONCLUSIONS: We report a kindred with a novel type of MFD that is not linked to the TCOF1 locus and is also clinically distinct from other types of AD MFD. Identification of additional families will facilitate identification of the gene causing this type of AD MFD and further characterisation of the clinical phenotype.

Adult↗
PubMed2005

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

BACKGROUND: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mutations within the slow skeletal muscle fibre myosin heavy chain gene, MYH7. It is allelic with myosin storage myopathy, with the commonest form of familial hypertrophic cardiomyopathy, and with one form of dilated cardiomyopathy. However, the clinical picture of MPD1 is distinct from these three conditions. OBJECTIVE: To collate and discuss the histological features reported in the muscle biopsies of MPD1 patients and to outline the clinical features. RESULTS: The phenotype of MPD1 was consistent, with initial weakness of great toe/ankle dorsiflexion, and later development of weakness of finger extension and neck flexion. Age of onset was the only variable, being from birth up to the 20 s, but progression was always very slow. The pathological features were variable. In this retrospective series, there were no pathognomonic diagnostic features, although atrophic type I fibres were found in half the families. Rimmed vacuoles are consistently seen in all other distal myopathies with the exception of Myoshi distal myopathy. However, they were found in a minority of patients with MPD1, and were not prominent when present. Immunohistochemical staining for slow and fast myosin showed co-expression of slow and fast myosin in some type I fibres, possibly indicating a switch to type II status. This may be a useful aid to diagnosis. CONCLUSIONS: The pathological findings in MPD1 are variable and appear to be affected by factors such as the specific muscle biopsied, the age of the patient at biopsy, and the duration of disease manifestations.

Adolescent↗
PubMed2005

Open trial to assess aspects of safety and efficacy of a combined herbal cough syrup with ivy and thyme.

BACKGROUND AND OBJECTIVES: Changes in the symptoms of cough after treatment with a combined herbal preparation containing dry ivy leaf extract as main active ingredient, decoction of thyme and aniseed, and mucilage of marshmallow root (Weleda Hustenelixier, new formulation) and its tolerability were investigated in an open clinical trial ('Anwendungsbeleg'). PATIENTS AND METHODS: Between January and March 2004, 13 general practitioners recruited and treated 62 patients with a mean age of 50 years (range 16-89). The patients had irritating cough in consequence of common cold (n = 29), bronchitis (n = 20) or respiratory tract diseases with formation of viscous mucus (n = 15). The mean daily intake was 10 ml (range 7.5-15) of syrup, and the mean duration of treatment was 12 days (range 3-23 days). Treatment results were assessed on the basis of changes in the symptom scores for cough and expectoration. Safety was evaluated by means of an analysis of adverse events. In addition, efficacy and tolerability were analyzed from the judgments of the doctors and patients. RESULTS: At the final visit, all symptom scores showed an improvement as compared to baseline. Doctors and patients assessed efficacy as good or very good in 86% and 90% of the cases, respectively. Tolerability was assessed as good or very good by 97% of the doctors and patients. Only one adverse event was reported. However, a relation to the medication was classified to be unlikely. CONCLUSION: Considering the traditional use of ivy leaves, thyme herb, aniseed and marshmallow root in preparations for cough, the reduction in the symptom score as well as the good tolerability the investigated combined herbal cough syrup seems to alleviate cough in consequence of common cold, bronchitis or respiratory tract diseases with formation of mucus.

Adolescent↗
PubMedDate not supplied

Functional imaging, the frontal lobes, and dementia.

A 58-year-old man developed progressive difficulty with comprehension and verbal output with dementia. Positron emission tomography with 18F 2-fluoro-2-deoxy-D-glucose demonstrated asymmetrical frontal and anterior temporal lobe loss of glucose use. Scopolamine infusion (0.3 mg) did not influence memory. Postmortem studies revealed evidence of Pick's disease, with Pick bodies, loss of somatostatin, preservation of choline acetyltransferase and immunostaining with neurofilament antibodies. Pharmacological challenge and positron imaging offer valuable means for the noninvasive assessment of dementing illness. The contributions of functional imaging to our knowledge of frontal involvement in dementing illness are reviewed.

Brain Chemistry↗
PubMed1995

Effect of collateral flow patterns on outcome of carotid occlusion.

The relationship between anatomical configuration of collateral flow and the outcome of the internal carotid artery (ICA) occlusion was analyzed. Sixty-one patients with occlusion of ICA were studied with transcranial Doppler ultrasonography. The authors monitored blood flow velocities in the middle cerebral artery (MCA) ipsilateral to the ICA occlusion during a series of carotid compressions. Blood flow through three major collateral arteries (anterior and posterior communicating arteries and ophthalmic artery) was determined as a residual flow in MCA after each compression. Twelve subjects had asymptomatic occlusion and 46 had stroke; patients with stroke were divided into mild, moderate, and severe stroke groups. Subjects with asymptomatic occlusion had a higher number of patent collateral vessels than severe stroke patients (p < or = 0.001). The same relationship was found between mild and severe stroke patients (p < or = 0.001) and between moderate and severe stroke (p < or = 0.01). Patients with watershed ischemia had a lower number of patent collateral arteries than patients with thromboembolic ischemia as revealed by CT examination (p < or = 0.02). This study demonstrates the crucial role of collateral flow in the stroke pathogenesis and stroke outcome in subjects with extracranial ICA occlusions.

Adult↗
PubMed1992

Short-term prognosis of stroke due to occlusion of internal carotid artery based on transcranial Doppler ultrasonography.

BACKGROUND AND PURPOSE: The clinical course of stroke due to occlusion of the internal carotid artery is influenced by amount of collateral flow. We measured mean frequency shifts in the middle cerebral artery by transcranial Doppler ultrasonography to determine its prognostic value. METHODS: Patients with proven extracranial occlusion of the internal carotid artery and ipsilateral hemispheral stroke were enrolled in our study. We performed transcranial Doppler ultrasonography on 31 patients within 48 hours after the stroke onset and followed up 25 patients in 28 days. At the same time, neurological examination with quantification of neurological deficit was done. We correlated values of flow frequency shifts on the side of stroke with degree of neurological deficit at the onset and at 28 days as well as the degree of clinical improvement and the value of frequency shifts. RESULTS: We found a negative correlation between blood flow frequency shifts in the middle cerebral artery and degree of neurological deficit at the onset (Spearman rank correlation coefficient, -0.567; p less than 0.001). We also found a positive correlation between the change of the neurological deficit during follow-up and frequency shifts at the onset (Spearman rank coefficient, 0.548; p less than 0.05). CONCLUSIONS: Diminished blood flow velocity (mean frequency shift) in the area of stroke is a negative prognostic factor for the degree of neurological deficit at the onset and a negative prognostic factor for possible improvement. Knowledge of hemodynamic conditions in the stroke area may help to improve therapeutic decisions.

Adult↗
PubMed1994

Compressions of carotid and vertebral arteries in assessment of intracranial collateral flow: correlation between angiography and transcranial Doppler ultrasonography.

The authors examined 61 subjects with carotid angiography and 50 with vertebral angiography. Angiograms were evaluated for collateral flow through the ophthalmic, anterior communicating, and posterior communicating arteries. The authors evaluated the patency of collateral vessels directly using transcranial Doppler ultrasonography; they made indirect detection after the compression of carotid and vertebral arteries while monitoring flow velocities in the middle cerebral artery. They established criteria for the hemodynamic significance of tested collateral vessels. A combination of carotid compressions and transcranial Doppler ultrasonography detected the patency of the ophthalmic and anterior communicating arteries with a specificity and sensitivity of 1.00. Examination of the posterior communicating artery had a sensitivity of 0.97 and specificity of 0.98. Indirect evaluation of collateral vessels can not only detect their presence but also establish their hemodynamic significance with high accuracy.

Adult↗
PubMed2001

Ethical principles and pitfalls of genetic testing for dementia.

Progress in the genetics of dementing disorders and the availability of clinical tests for practicing physicians increase the need for a better understanding of multifaceted issues associated with genetic testing. The genetics of dementia is complex, and genetic testing is fraught with many ethical concerns. Genetic testing can be considered for patients with a family history suggestive of a single gene disorder as a cause of dementia. Testing of affected patients should be accompanied by competent genetic counseling that focuses on probabilistic implications for at-risk first-degree relatives. Predictive testing of at-risk asymptomatic patients should be modeled after presymptomatic testing for Huntington's disease. Testing using susceptibility genes has only a limited diagnostic value at present because potential improvement in diagnostic accuracy does not justify potentially negative consequences for first-degree relatives. Predictive testing of unaffected subjects using susceptibility genes is currently not recommended because individual risk cannot be quantified and there are no therapeutic interventions for dementia in presymptomatic patients.

Algorithms↗
PubMed2005

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

BACKGROUND: Polymorphism G1465A in the GABBR1 gene has been suggested as a risk factor for non-lesional temporal lobe epilepsy (TLE); however, this genetic association study has not been independently replicated. We attempted to replicate this study in our cohort of patients with TLE. Furthermore, we also analyzed the coding sequence of this gene and searched for disease-causing mutations. METHODS: We included 120 unrelated individuals with TLE that was preceded by febrile seizures (FS) who did not have any evidence of structural lesions suggesting secondary epilepsy. 66 individuals had positive family history of TLE epilepsy and 54 were sporadic. Each patient was genotyped for the presence of G1465A polymorphism. All exons of the GABBR1 gene were screened by single strand confirmation polymorphism method. Genotypes were compared with two independent matched control groups. RESULTS: We detected two A alleles of the G1465A polymorphism in one homozygous control subject (0.87% of all alleles) and one A allele in a patient with TLE (0.45%, not significant). Other detected polymorphisms in coding regions had similar frequencies in epilepsy patients and control groups. No disease causing mutations in the GABBR1 gene were detected in patients with sporadic or familial TLE. CONCLUSION: Our results indicate that TLE preceded by FS is not associated with the polymorphisms or mutations in the GABBR1 gene, including the G1465A polymorphism. The proportion of TLE patients with FS in the original study, reporting this positive association, did not differ between allele A negative and positive cases. Thus, our failure to reproduce this result is likely applicable to all non-lesional TLE epilepsies.

Adult↗
PubMed1994

Abnormal connectivity of the visual pathways in human albinos demonstrated by susceptibility-sensitized MRI.

We studied activation of the human visual cortex (VC) using susceptibility-sensitized MRI at 1.5 Tesla. Three albinos and six healthy controls underwent a series of monocular and binocular photic flash stimulation. Monocular stimulation in albinos caused predominant contralateral activation with a small, well-delineated area in the anterior part of the VC in the ipsilateral hemisphere. This finding was consistent with a chiasmal crossing anomaly in albinism. All controls had symmetric patterns of activation during monocular stimulation. Functional MRI represents a promising method for evaluation of the visual pathways in humans.

Adolescent↗
PubMed1994

Concomitants of visual hallucinations in Alzheimer's disease.

Visual hallucinations (VH) are the most common hallucinations in Alzheimer's disease (AD), but their relationships with other behavioral symptoms and measures of cognitive performance are unclear. Using the BE-HAVE/AD, a semistructured behavioral inventory, we identified 20/160 AD patients (13%) who were currently having VH. Patients with VH performed worse on the Mini-Mental State Examination and had more behavioral symptoms than patients without VH. Symptoms particularly associated with VH included auditory hallucinations, verbal outbursts, delusions, and paranoid ideation. Principal factor analysis of the BEHAVE/AD yielded four factors accounting for 47% of the total variance. VH loaded on two factors involving symptoms of "paranoia" and "agitation/hallucinations." Our findings suggest that VH in AD patients are common, often occur in the presence of specific behavioral disturbances, and may have management implications.

Aged↗
PubMed1997

Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology.

We describe clinical features of a large Polish-American kindred in which autosomal-dominant, paroxysmal dystonic choreoathetosis (PDC) was linked to a locus on chromosome 2q. Episodes of generalized dystonia and choreoathetosis involving the face and all extremities began in early childhood, lasted for 30 minutes to several hours, and occurred up to several times each week. There was no interruption of consciousness and EEGs were normal during the episodes. Paroxysmal dyskinesia occurred at rest both spontaneously and following caffeine or alcohol consumption. Neurologic examinations were normal between attacks. The cause of PDC is unknown. We deduced a model of PDC pathophysiology from analyzing neurophysiologic effects of alcohol and caffeine (which provoke attacks of PDC), the variably beneficial effects of levodopa-carbidopa, and the occurrence of dystonia and paroxysmal dyskinesia in biopterin synthesis disorders. We propose that nigrostriatal neurons in PDC patients have either marginally deficient dopamine synthesis or excessive alcohol- and caffeine-induced dopamine release; and that following alcohol- and caffeine-induced dopamine release, PDC patients experience a period of dopamine deficiency.

Athetosis↗