1/2159. 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 = cell (Clic here for more details about this article) |
2/2159. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and pancytopenia without either telangiectasia or chromosomal instability. One sibling died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression to a myelodysplastic disorder. There was no evidence of any chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. monosomy-7 was not present in the surviving sibling. We suspect that these two patients represent another example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling for evidence of any karyotypic abnormality.- - - - - - - - - - ranking = 0.2keywords = cell (Clic here for more details about this article) |
3/2159. MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis.Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.- - - - - - - - - - ranking = 0.1keywords = cell (Clic here for more details about this article) |
4/2159. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.- - - - - - - - - - ranking = 36.332893597474keywords = naevus (Clic here for more details about this article) |
5/2159. ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
6/2159. Gross hematuria of uncommon origin: the nutcracker syndrome.Left renal vein hypertension, also called "nutcracker phenomenon" or "nutcracker syndrome," is a rare vascular abnormality responsible for gross hematuria. The phenomenon is attributable to the idiopathic decrease in the angle between the aorta and the superior mesenteric artery with consequent compression of the left renal vein. The entrapment of the left renal vein is not easily detectable by ordinary diagnostic procedures. We report two cases of gross hematuria (persistent in one patient and recurrent in the other) caused by "nutcracker phenomenon." In both cases, no remarkable findings were obtained from medical history, urinary red blood cells morphology, repeated urinalysis, pyelography, cystoscopy, or ureteroscopy. Left renal vein dilation in one case was found with a computed tomography (CT) scan performed on the venous tree of left kidney. The diagnosis of "nutcracker phenomenon" was confirmed by renal venography with measurement of pressure gradient between left renal vein and inferior vena cava in both cases. In one case, the diagnosis was complicated by the presence of mycobacterium tuberculosis in urine. The "nutcracker phenomenon" is probably more common than thought. early diagnosis is important to avoid unnecessary diagnostic procedures and complications such as the thrombosis of the left renal vein. Many procedures are available to correct the compression of the left renal vein entrapped between the aorta and the superior mesenteric artery: Gortex graft vein interposition, nephropexy, stenting, and kidney autotransplantation. After surgery, gross hematuria ceases in almost all patients.- - - - - - - - - - ranking = 0.1keywords = cell (Clic here for more details about this article) |
7/2159. Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome.A patient is described with a Dejerine-Sottas syndrome caused by a novel heterozygous Cys(98)Tyr mutation in the extracellular domain of the major peripheral myelin protein zero (P0ex). Homotypical interactions between P0ex tetramers of apposed extracellular faces of the Schwann cell membrane play a crucial part in myelin compaction. The amino acid change disrupts a unique disulphide bond that stabilises the immunoglobulin-like structure of P0ex and it is predicted to cause severe dehypomyelination through dominant negative effects on the wild type protein.- - - - - - - - - - ranking = 0.7keywords = cell (Clic here for more details about this article) |
8/2159. Epidermal naevus syndrome.A case of the epidermal naevus syndrome is presented. Huge enlargement of both lower limbs was the presenting symptoms together with an extensive veavus unius lateris on the trunk.- - - - - - - - - - ranking = 22.708058498422keywords = naevus (Clic here for more details about this article) |
9/2159. Splenic syndrome in sickle cell trait: four case presentations and a review of the literature.Four cases of splenic infarction/sequestration in sickle cell trait (SCT) patients are presented. All four patients were undergoing moderate exercise at elevations ranging from 5,500 to 12,000 feet. The patients include two African-American males, a Hispanic male, and a white female. All four presented with the acute onset of mid epigastric then left upper-quadrant pain, nausea, vomiting, and respiratory splinting. A review of the literature indicates that splenic infarction with SCT is not uncommon; however, not surprisingly, it is often initially misdiagnosed. This is the first report in the literature of a female with SCT incurring a splenic syndrome with exposure to terrestrial altitude. Although SCT is not a contraindication for moderate- or high-altitude activities, military physicians need to consider the diagnosis of splenic infarction early in any patient regardless of race or sex who presents with left upper-quadrant pain at altitudes above 5,000 feet. Prompt evacuation to sea level may hasten recovery and spare further splenic trauma. Although SCT should be considered a relatively benign entity, the literature also suggests a higher than average risk of sudden death in military recruits with SCT from exertional heat illness and rhabdomyolysis.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
10/2159. Nevoid basal cell carcinoma syndrome.A case report of a young girl with nevoid basal cell carcinoma syndrome is presented. The patient showed cutaneous and skeletal findings characteristic of the syndrome. Multiple basal cell carcinomas, rib abnormalities, along with clinical evidence of frontal bossing and ocular hypertelorism were the primary features of the syndrome in this patient. It is suggested that other characteristics of the syndrome, such as jaw cysts, palmar and plantar pitting and calcification of the falx cerebri will develop as the patient grows older. Careful observation, particularly for medulloblastoma and malignant degeneration and invasiveness of basal cell carcinomas, will be an integral part of this young patient's care.- - - - - - - - - - ranking = 0.7keywords = cell (Clic here for more details about this article) |
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