1/1180. Increased sister chromatid exchange in bone marrow and blood cells from Bloom's syndrome.Bone-marrow cells from a patient with Bloom's syndrome cultured for 48 h in the presence of BudR exhibited a striking increase in the number of sister chromatid exchanges (SCEs) in comparison to that in the marrow cells of a patient with treated polycythemia vera (PV). Thus, it appears that an increased incidence of SCE in Bloom's syndrome occurs in various differentiated types of cells, not just blood lymphocytes, and constitutes the syndrome's most characteristic cytogenetic feature. In contrast, the incidence of SCE was not increased in marrow cells and lymphocytes of the particular PV patient studied here, whose cells did exhibit increased numbers of chromatid and chromosome gaps and breaks, presumably as result of the patient's earlier treatment. An increased frequency of SCE was demonstrated in Bloom's syndrome lymphocytes using both a technique based on BudR incorporation and one based on labeling with tritated deoxycytidine. This observation constitutes evidence against the increase of SCE being due to an unusual reaction to BudR. By conventional cytogenetic techniques, chromosome instability, including chromatid and chromosome breaks, but no homologous chromatid interchanges were also recognized in Bloom's syndrome bone-marrow cells incubated in vitro (without BudR) for either 1.k or 16 h. This observation points to the existence of chromosome instability in vivo.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
2/1180. An extrahepatic bile duct metastasis from a gallbladder cancer mimicking Mirizzi's syndrome.We report a case of an extrahepatic bile duct metastasis from a gallbladder cancer that mimicked Mirizzi's syndrome on cholangiography. A 67-yr-old woman was admitted to our hospital with a diagnosis of acute calculous cholecystitis. As obstructive jaundice developed after the admission, percutaneous transhepatic biliary drainage was performed to ameliorate the jaundice and to evaluate the biliary system. Tube cholangiography revealed bile duct obstruction at the hepatic hilus, and extrinsic compression of the lateral aspect of the common hepatic duct, with nonvisualization of the gallbladder. No impacted cystic duct stone was visualized on CT or ultrasonography. laparotomy revealed a gallbladder tumor as well as an extrahepatic bile duct tumor. We diagnosed that the latter was a metastasis from the gallbladder cancer, based on the histopathological features. This case is unique in that the extrahepatic bile duct metastasis obstructed both the common hepatic duct and the cystic duct, giving the appearance of Mirizzi's syndrome on cholangiography. Metastatic bile duct tumors that mimic Mirizzi's syndrome have not been previously reported. The presence of this condition should be suspected in patients with the cholangiographic features of Mirizzi's syndrome, when the CT or ultrasonographic findings fail to demonstrate an impacted cystic duct stone.- - - - - - - - - - ranking = 3.5758747887369keywords = visual (Clic here for more details about this article) |
3/1180. Kindler syndrome: absence of definite ultrastructural feature.Kindler syndrome is characterized by congenital blister formation, photosensitivity, poikiloderma, and cutaneous atrophy in later life. There are few reports about the ultrastructural features of this syndrome, but still there is no consensus about the basic disease. Here we report a case of Kindler syndrome with ultrastructural findings.- - - - - - - - - - ranking = 2.5657098231403keywords = sensitivity (Clic here for more details about this article) |
4/1180. hypersensitivity reaction in a child due to lamotrigine.Lamotrigine is an anticonvulsant with a broad spectrum of activity that has been approved in the united states for use in adults with either partial or generalized seizures. This drug is being widely prescribed by pediatricians and neurologists because it is effective in children with idiopathic, resistant, generalized seizures and does not impair cognition. As with other anticonvulsants, a hypersensitivity syndrome has been described. Anticonvulsant hypersensitivity syndrome consists of the hallmark features of fever, rash, and lymphadenopathy. We report the first case of hypersensitivity syndrome in a child due to lamotrigine in which we believe the coadministration of valproic acid increased the duration of the reaction. Our patient had a high spiking fever, generalized morbilliform eruption, facial edema, lymphadenopathy, eosinophilia, atypical lymphocytosis, and an elevation in his liver function tests. The syndrome resolved with the discontinuation of the medication. Anticonvulsant hypersensitivity syndrome may occur with the administration of lamotrigine. Variable presentations may be seen, as hypersensitivity syndromes may be multisystem in nature. The prompt recognition of the signs and symptoms of this condition allows an accurate diagnosis so that the drug may be discontinued and other anticonvulsant treatment options instituted.- - - - - - - - - - ranking = 23.091388408262keywords = sensitivity (Clic here for more details about this article) |
5/1180. patients with CHARGE association: a model to study saccular function in the human.The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.- - - - - - - - - - ranking = 1.7879373943685keywords = visual (Clic here for more details about this article) |
6/1180. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. methods: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
7/1180. signal transduction defects in growth hormone insensitivity.growth hormone (GH) insensitivity is a heterogeneous condition that can result from mutations within the GH receptor (GHR) and that can be inherited as both an autosomal recessive and a dominant trait. However, evidence from a small number of growth hormone binding protein (GHBP)-positive families indicates that their GH insensitivity is independent of GHR mutations. Two of these families appear to have distinct abnormalities in GH signal transduction. Studies suggest that one family (classic laron syndrome phenotype; designated family H) have a signalling defect close to the GHR, preventing activation of both the STAT and MAPK pathways, whereas the other family (less marked phenotype; family M) have a defect in activating MAPK but not the STAT pathway. The children studied here are specifically insensitive to GH and their defect must be exclusive to this signalling system. Thus, families with GHBP-positive GH insensitivity without GHR mutations are likely to be important models in which to study the specificity of GH signal transduction and the relationship between GH insensitive phenotype and signalling defect.- - - - - - - - - - ranking = 17.959968761982keywords = sensitivity (Clic here for more details about this article) |
8/1180. Giant and "granular melanosomes" in leopard syndrome: an ultrastructural study.Electron microscopy of lentigines was performed to study the pigmentation abnormality in two children with leopard syndrome. Giant melanosomes similar to those seen in cafe-au-lait spots of neurofibromatosis and nevus spilus were found in a lentigine from one of our cases. Our results show that "spherical granular melanosomes" described in neurofibromatosis, are lysosomal-like structures associated with the development of complex melanin granules. Our study also demonstrates that immature melanosomes are present in some keratinocytes of leopard syndrome. This finding is in contrast to the prevailing concept that only mature melanosomes are transferred to keratinocytes. The occurrence of individual melanosomes of normal size and shape in keratinocytes of skin in whites with leopard syndrome, suggests that neither the size of melanosomes, nor the racial differences are the factors determining the distribution of melanosomes in keratinocytes.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
9/1180. Ocular changes in mucopolysaccharidosis iv A (Morquio A syndrome) and long-term results of perforating keratoplasty.BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. visual acuity OD cc = 0.16, OS cc = 0.05. electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.- - - - - - - - - - ranking = 8.9396869718423keywords = visual (Clic here for more details about this article) |
10/1180. Lymphomatoid contact dermatitis: a syndrome produced by epicutaneous hypersensitivity with clinical features and a histopathologic picture similar to that of mycosis fungoides.Four cases have been studied which were clinically suggestive of mycosis fungoides because of their infiltrated plaque-like lesions, but in which the suspicion of a topical hypersensitivity arose when a positive patch test was obtained with the striker part of a box of matches.- - - - - - - - - - ranking = 12.828549115701keywords = sensitivity (Clic here for more details about this article) |
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