1/428. Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family.Four Fanconi anaemia group A (FAA) patients within two related consanguineous families are presented: the propositus (male, 13 years, transplanted at age 10), and his three cousins (one male, 8 years, and two female newborns). Assignment of the patients to FAA was based on the functional complementation analysis by somatic cell hybridization and confirmed by mutation screening showing a homozygous deletion of exon 43 (4267-4404del) in the FAA gene to be present in all four patients. The newborn patients had been diagnosed prenatally by dna analysis. In spite of identical molecular pathology and close familial relationship the clinical phenotypes of the four patients were not concordant. Discordant symptoms included birthweight, pigmentation abnormalities, skeletal, renal and genital abnormalities, whereas microcephaly and possibly the haematological course were concordant. Differences in environmental conditions and/or genetic make-up along with chance effects during development may explain discordant phenotypes despite identical molecular pathology in these patients. However, our results do not rule out the possibility that the exon 43del mutation may have prognostic value for the haematological course of the disease.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/428. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 0.0012232949799453keywords = tube (Clic here for more details about this article) |
3/428. Bilateral fibromuscular dysplasia in identical twins.fibromuscular dysplasia is an arterial occlusive disorder that often affects the renal arteries and leads to renovascular hypertension. The cause of this disease is unknown. However, the occurrence in siblings suggests that genetic factors may play a role. We describe two cases involving hypertensive identical twins with fibromuscular dysplasia of the renal arteries. This unique clinical case reinforces a possible hereditary nature of this arterial occlusive disorder.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
4/428. 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 = 5keywords = disease (Clic here for more details about this article) |
5/428. Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.The dystrophic forms of epidermolysis bullosa result from different types and combinations of mutations in the type VII collagen gene (COL7A1). We describe a novel glycine substitution arising as a de novo mutation in a proband with a clinically mild form of dystrophic epidermolysis bullosa and no family history of any blistering disease. This report underscores the predominance of glycine substitutions in the dominantly inherited forms of dystrophic form epidermolysis bullosa, and heightens our awareness of unusual modes of inheritance. This information is critical for accurate genetic counseling and determination of recurrence risk in families with dystrophic EB.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
6/428. Severe hemolytic disease from rhesus anti-C antibodies in a surrogate pregnancy after oocyte donation. A case report.BACKGROUND: Maternal sensitization with rhesus anti-C antibodies is comparatively rare and usually benign. In pregnancies conceived using donor oocytes, the mother's blood group may differ from that of both the father and the oocyte donor, making blood group incompatibility more likely. CASE: twins, the result of a surrogate pregnancy using donor oocytes, were born with severe hemolytic disease due to rhesus anti-C antibodies. Both infants required exchange transfusion for profound anemia at birth. Isoimmunization in the surrogate mother was not detected antenatally. The twins were delivered by emergency cesarean section due to fetal compromise, detected fortuitously when the mother attended for routine fetal assessment at 35 weeks' gestation. CONCLUSION: Isoimmunization with anti-C antibodies is not always benign and may cause significant hemolytic disease. With the success of in vitro fertilization and oocyte donation, more infertile couples may use these methods to conceive, with or without surrogacy arrangements. In such cases, the provision of antenatal care may become a complex matter, involving several parties, and good communication between everyone involved is vital. In pregnancies conceived with donor oocytes, there may be a higher risk of blood group incompatibility, and special vigilance is warranted.- - - - - - - - - - ranking = 6keywords = disease (Clic here for more details about this article) |
7/428. 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 = 1keywords = disease (Clic here for more details about this article) |
8/428. 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 = 2keywords = disease (Clic here for more details about this article) |
9/428. coronary artery disease in identical twins.The incidence of coronary artery disease in identical twins is unknown. The knowledge of ischemic heart disease in this patient population is represented by case reports. There is considerable controversy regarding the environmental and genetic factors that play a role in the pathogenesis of this disorder. The natural history of coronary artery disease in an asymptomatic twin with a symptomatic counterpart is unclear. We present a case report and literature review of coronary artery disease in identical twins. On the basis of our patient and the information of other patients, asymptomatic twins of symptomatic counterparts require aggressive assessment and management for occult coronary artery disease.- - - - - - - - - - ranking = 9keywords = disease (Clic here for more details about this article) |
10/428. moyamoya disease in Italian monozygotic twins.We report white monozygotic twins with moyamoya disease (MMD) (adult ischemic type). Both had cerebral angiography, MRI, magnetic resonance angiography, SPECT, EEG, human leukocyte antigen (HLA) typing, evaluation of thrombophilia, and immunologic and karyotype analysis. The clinical features and HLA phenotypes described in Asian monozygotic twins with MMD were not found in our patients. However, genetic analysis revealed a homozygous state for C-->T (Ala-->Val substitution) in position 677 of the methylenetetrahydrofolate reductase-encoding gene.- - - - - - - - - - ranking = 5keywords = disease (Clic here for more details about this article) |
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