1/109. Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease.Disproportionate exercise limitation in patients with cardiovascular disease is a common problem faced by clinical cardiologists and other physicians. Symptoms may be attributed to psychological factors or hypothetical pathophysiological mechanisms that are difficult to confirm clinically. This case report describes how the use of metabolic exercise testing in a 28 year old woman with morphologically and haemodynamically mild hypertrophic cardiomyopathy and severe exercise limitation led to the diagnosis of an alternative cause for the patient's symptoms, namely a primary disturbance of the mitochondrial respiratory chain probably caused by a nuclear encoded gene defect.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/109. Simultaneous onset of idiopathic dilated cardiomyopathy in identical middle-aged twins.Idiopathic dilated cardiomyopathy is a primary myocardial disease which is characterised by left ventricular, or biventricular, dilatation and impaired contractility. The precise aetiology is unknown and the relative contribution of genetic and environmental factors is debated. We report two identical male twins of Caucasian origin with idiopathic dilated cardiomyopathy who presented within a few months of each other.- - - - - - - - - - ranking = 6keywords = myopathy (Clic here for more details about this article) |
3/109. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30.Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from portugal. Monozygosity was established by analysis of dna polymorphisms. Both pairs were discordant for age at onset and some clinical manifestations of FAP-I. We reviewed the differences in age at onset and clinical features in both sets and in two other pairs of presumed MZ twins with FAP-I and compared them with those in MZ twin pairs with other Mendelian disorders, such as neurofibromatosis type 1, Huntington's disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. We conclude that, in addition to the postulated modifying genes, there must be a significant contribution from non-genetic factors to the phenotypic variability of FAP-I (age at onset and clinical expression), either because of environmental differences or stochastic events during (or after) the twinning process.- - - - - - - - - - ranking = 185.40089592823keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
4/109. Microstrabismus in monozygotic twins.PURPOSE: To report microesotropia in twins as a unique example of the role of heredity in primary microstrabismus. methods: Clinical records of the examinations of monozygotic twins with primary microstrabismus were reviewed. RESULT: Microstrabismus with different clinical findings was present in monozygotic twins. The family history and personal history of the patients were not significant. CONCLUSION: Microstrabismus can be seen as primary ocular motility problem without previous infantile esotropia or anisometropia. Genetic factors as well as intrauterine environment and developmental factors may affect sensorimotor development of the infant and cause ocular motility problems. Both twins should be examined for ocular motility disorders even in the absence of complaints.- - - - - - - - - - ranking = 5.0611884279857keywords = ocular (Clic here for more details about this article) |
5/109. Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene.We describe an 8-day-old baby girl presenting a fatal infantile form of hypertrophic obstructive cardiomyopathy, associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene. She was born from a healthy unrelated couple, and was the first infant of dizygotic twins. Soon after birth, she was noted to have tachypnea and generalized hypotonia. She had high levels of lactate and pyruvate, and was diagnosed as having hypertrophic cardiomyopathy using echocardiography. She died by cardiac failure. Mitochondrial dna analysis was performed by sequencing after PCR-subcloning methods, and the percentage of mutation was measured using PCR-RFLP methods. In various tissues obtained at autopsy, analysis showed a heteroplasmic population of A8296G mutation in the mitochondrial tRNA(Lys) gene in all the tissues examined. Maternal inheritance was demonstrated in the family members. Our data demonstrated that an A8296G mutation in the mitochondrial tRNA(Lys) gene showed clinical heterogeneity from a milder form previously reported as mitochondrial diabetes mellitus, to a more severe form as hypertrophic obstructive cardiomyopathy, according to the spatial distribution of this mutation. Hum Mutat 15:382, 2000.- - - - - - - - - - ranking = 7keywords = myopathy (Clic here for more details about this article) |
6/109. Intermediate uveitis of pars planitis type in identical twins. Report of a case.The occurrence of intermediate uveitis in monozygotic twins has rarely been reported in literature. We report the occurrence of this disease condition in identical twins. Twin sisters presented with typical features of intermediate uveitis, which appeared three years earlier in one of the sisters. They were treated with posterior subtenon injection of triamcinolone acetonide and recovered well. Systemic evaluation and laboratory investigations did not reveal any etiology. Cytogenetic high-resolution analysis did not reveal any chromosomal abnormalities. pedigree analysis revealed no specific transmission pattern. No other family members in three generations had similar ocular disease. Our report indicates that a detailed family history should be taken in intermediate uveitis and examination of other siblings of patients with intermediate uveitis should be performed.- - - - - - - - - - ranking = 1.6870628093286keywords = ocular (Clic here for more details about this article) |
7/109. Effects of renal transplantation on hearing and ocular changes in a monozygotic twin with Alport's syndrome: comparison with other twin on hemodialysis.AIM: To present a unique case of Alport's syndrome in monozygotic twins with two different treatment modalities - renal transplantation and hemodialysis, and to evaluate the effects of therapy on hearing and ophthalmological findings. methods: Pure-tone audiogram and ophthalmologic examinations were performed in both twins at the age of 30. At the age of 46, 4 years after renal transplantation in the first twin and after 6 years of hemodialysis in the second twin, both twins underwent control audiometric and ophthalmologic examinations. RESULTS: Control audiometric measurements showed the progression of bilateral sensorineural hearing loss in the high-frequency range (>2,000 Hz) in both twins. The hearing threshold progressed from initial 50 dB in both twins at the time of the diagnosis to 55 dB in the twin on hemodialysis, and 85 dB in the twin with a transplanted kidney. Retinal blurry hyperpigmentations disappeared in the twin with a transplanted kidney. CONCLUSION: In comparison with hemodialysis, renal transplantation in Alport's syndrome may have deleterious effect on hearing, when associated with plasma hyperviscosity and hyperlipidemia, but may lead to regression of retinal hyperpigmentation.- - - - - - - - - - ranking = 6.7482512373143keywords = ocular (Clic here for more details about this article) |
8/109. Primary cardiomyopathy in identical twins.Seventeen year old identical twin brothers with no family history of cardiopathy began experiencing palpitations almost simultaneously. In both, examination revealed marked cardiomegaly and hypokinesia of the ventricular walls, and clinical and radiologic signs of progressive cardiac failure developed a few days later. Both boys died suddenly, 49 days and 5 months, respectively, after the initial examination. Electrocardiographic and vectorcardiographic studies revealed a severe intraventricular conduction disturbance that coincided with histologic changes in the myocardial tissue, including profuse interstitial fibrosis, hypertrophy and degeneration of the myocardial fibers, aberrant arrangement of the muscular fibers and considerable alteration of the structure of cardiac tissue. In the absence of hereditary and chromosomal factors, and excluding possible viral intervention during fetal life, it is believed that a teratogenic factor can produce the structural alterations of the tissue and derangement of the fibers observed in these hearts. The irregular contractions of the heart at the level of the net-like meshwork, disarrangement of myocardial fibers, and adaptative mechanisms of the heart inherent in the destruction of the contractile tissue contributed to the functional cardiac disorders that resulted in congestive heart failure and sudden death in these twins.- - - - - - - - - - ranking = 4keywords = myopathy (Clic here for more details about this article) |
9/109. Discordant pursuit asymmetry and esotropia in monozygous twins.PURPOSE: To report the relationship between infantile esotropia and asymmetry of monocular pursuit tracking. DESIGN: Observational family case series. methods: A twin pair discordant for infantile esotropia was confirmed by dna analysis to be monozygous at 99.95% probability. Digitally sampled electro-oculographic recordings of monocular horizontal pursuit eye movements were performed for the twins and their orthophoric father. RESULTS: Mean directional asymmetry for right and left eyes was 31% and 5% for the esotropic twin, 10% and 8% for the orthophoric twin, and 5% and 6% for the father. The asymmetry was statistically significant only for the deviating right eye of the esotropic twin (P = 0.0217). CONCLUSION: In this family, monocular pursuit asymmetry is probably not a heritable predisposition to infantile esotropia, but a consequence of early strabismus. Discordance of infantile esotropia and pursuit asymmetry in monozygous twins implicates environmental in addition to genetic causes.- - - - - - - - - - ranking = 5.0611884279857keywords = ocular (Clic here for more details about this article) |
10/109. Cephalothoracic lipodystrophy with hypocomplementemic renal disease: discordance in identical twin sisters.This report describes the occurrence of cephalothoracic lipodystrophy in one of 7-yr-old identical twin sisters. The affected twin had classical loss of sc fat from her face, upper arms, and trunk as well as associated hypocomplementemia, microscopic hematuria, and a borderline oral glucose tolerance test without hyperinsulinism. The unaffected twin had a normal urinalysis, serum complement, and oral glucose tolerance. Both twins, when challenged iv with LRH or TRH, showed appropriate FSH and LH or TSH and PRL responses, respectively. This report, in conjunction with another similar twin pair recently described in the German literature, makes a simple, single gene genetic etiology untenable and supports the view that cephalothoracic lipodystrophy in an acquired disease.- - - - - - - - - - ranking = 84.182038035008keywords = dystrophy (Clic here for more details about this article) |
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