1/80. Transient local changes in right ventricular monophasic action potentials due to ajmaline in a patient with brugada syndrome.A 48-year-old patient with recurrent episodes of palpitations and syncope presented with transient ST segment elevation in the right precordial ECG leads. Structural heart disease was excluded. No arrhythmias were inducible by programmed ventricular stimulation. Parallel to ST elevation after intravenous ajmaline, a gradual and reversible delay in the upstroke of right ventricular (RV) monophasic action potentials (maps) occurred that was most marked in the RV outflow tract and nearly absent at right free-wall recordings. ajmaline led to a cycle length-dependent increase in RV dispersion of repolarization. Thus, right endocardial maps may demonstrate regionally different action potential changes that may contribute to the ECG changes in brugada syndrome.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
2/80. Topical DMSO treatment for pegylated liposomal doxorubicin-induced palmar-plantar erythrodysesthesia.PURPOSE: Chemotherapeutic regimens that utilize fluorouracil, cytarabine, and doxorubicin have been shown to cause a dermatologic syndrome known as hand-foot syndrome, or palmar-plantar erythrodysesthesia syndrome (PPES). Pegylated liposomal doxorubicin has proven effective in the treatment of AIDS-related Kaposi's sarcoma, ovarian cancer refractory to platinum and paclitaxel therapies, and metastatic breast cancer. In a study of the treatment of refractory epithelial cell ovarian cancers with lipozomal doxorubicin utilizing intravenous doses of 50 mg/m(2) every 3 weeks, grade 3 PPES was observed in 29% of patients (10/35) and required dose reductions and/or dose delay after a median of three therapy cycles. methods: Current methods to prevent pegylated liposomal doxorubicin-induced PPES include dose reduction, lengthening of the drug administration interval and ultimately, drug withdrawal. Topical 99% dimethylsulfoxide (DMSO) also has shown strong activity in treating tissue extravasation reactions during intravenous administration of doxorubicin. RESULTS: Two patients undergoing chemotherapy with pegylated liposomal doxorubicin, 50 mg/m(2) every 4 weeks, developed grade 3 PPE after three cycles. Their PPES resolved over a period of 1 to 3 weeks while receiving topical 99% DMSO four times daily for 14 days. CONCLUSIONS: While these results are promising, patients must be treated in a prospective study of this topical DMSO formulation to definitively document its therapeutic efficacy.- - - - - - - - - - ranking = 2keywords = cycle (Clic here for more details about this article) |
3/80. hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics.hyperinsulinism-hyperammonemia syndrome (HHS) is a recently identified genetic disorder characterized by hyperinsulinemic hypoglycemia with concomitant hyperammonemia. In patients with HHS, activating mutations in the glutamate dehydrogenase (GDH) gene have been identified. GDH is a key enzyme linking glutamate metabolism with the Krebs cycle and catalyzes the conversion of glutamate to alpha-ketoglutarate. The activity of GDH is controlled by allosteric inhibition by GTP and, so far, all the mutations of HHS patients have been located within the GTP-binding site. Characteristically, GDH from these individuals have therefore normal basal activity in conjunction with a loss of GTP inhibition. In this study, however, we have identified a novel variant GDH in a patient with a more severe form of HHS. The mutation is located outside the GTP-binding site and the patient's GDH shows consistently higher activity, even in the absence of allosteric effectors. These results further support the hypothesis that the activating mutation of GDH is the cause of HHS. The mechanism leading to the activation of GDH, however, is not always related to the loss of GTP inhibition as was originally suggested.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
4/80. Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.OBJECTIVE: The combination of persistent hyperammonemia and hypoketotic hypoglycemia in infancy presents a diagnostic challenge. Investigation of the possible causes and regulators of the ammonia and glucose disposal may result in a true diagnosis and predict an optimum treatment. PATIENT: Since the neonatal period, a white girl had been treated for hyperammonemia and postprandial hypoglycemia with intermittent hyperinsulinism. Her blood level of ammonia varied from 100 to 300 micromol/L and was independent of the protein intake. methods: enzymes of the urea cycle as well as glutamine synthetase and glutamate dehydrogenase (GDH) were assayed in liver tissue and/or lymphocytes. RESULTS: The activity of hepatic GDH was 874 nmol/(min.mg protein) (controls: 472-938). Half-maximum inhibition by guanosine triphosphate was reached at a concentration of 3.9 micromol/L (mean control values:.32). The ratio of plasma glutamine/blood ammonia was unusually low. Oral supplements with N-carbamylglutamate resulted in a moderate decrease of the blood level of ammonia. The hyperinsulinism was successfully treated with diazoxide. CONCLUSION: A continuous conversion of glutamate to 2-oxoglutarate causes a depletion of glutamate needed for the synthesis of N-acetylglutamate, the catalyst of the urea synthesis starting with ammonia. In addition, the shortage of glutamate may lead to an insufficient formation of glutamine by glutamine synthetase. As GDH stimulates the release of insulin, the concomitant hyperinsulinism can be explained. This disorder should be considered in every patient with postprandial hypoglycemia and diet-independent hyperammonemia.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
5/80. Response to LH-RH and clomiphene citrate in two women with the Prader-Labhart-Willi syndrome.Two women with the Prader-Labhart-Willi syndrome are presented. The gonadotropin response to LH-RH administration was studied prior to, immediately following, and 6 months after a 6-week trial of clomiphene citrate, 200 mg per day for 21 days in divided doses, followed by 100 mg for 21 days in divided doses, followed by 100 mg per day for 14 days in divided doses, and followed by 50 mg per day in a single dose for an additional 14 days. During therapy, the basal gonadotropin and estradiol concentrations rose from prepubertal levels to those of mature women in midmenstrual cycle. However, 6 months after cessation of treatment, the basal gondadotropin and estradiol levels had returned to the prepubertal range. The initial response to LH-RH in the 2 patients differed in that one was clearly prepubertal and the other indistinguishable from the broad range of the adult normal response. The LY and FSH responses to LH-RH administration was greater after 6 weeks of clomiphene citrate therapy than they were either before (both patients) or 6 months after treatment (1 patient). We conclude that there is heterogeneity in the response to LH-RH administration in the Prader-Labhart-Willi Syndrome, just as there is in other syndromes of hypogonadotropic hypogonadism. A normal adult response of gonadotropins to the administration of LH-RH was acheived during clomiphene citrate therapy.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
6/80. adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with coffin-lowry syndrome.We recently evaluated a mentally retarded 48 year old man found to have a cytogenetic deletion of chromosome 10 [46,XY,del(10) (q25. 1q25.3)]. Of interest, he shares many clinical findings with those described in coffin-lowry syndrome (CLS). These include severe mental retardation, short stature and a coarse facial appearance with widely spaced eyes, and patulous lips. He also had an extra transverse hypothenar crease, a finding that is seen in CLS. Furthermore, he has characteristic radiographic hand findings described in 95% of patients with CLS. The CLS gene, located at Xp22. 2, has recently been identified, and mutations in the Rsk-2 gene have been identified in several CLS patients. Rsk2 is part of a gene family implicated in cell cycle regulation through the mitogen-activated protein (MAP) kinase cascade. None of the currently recognized components of this pathway maps to the region deleted in our patient, nor are we able to identify any likely candidate genes in the deleted region, although several G protein coupled receptors have been cloned from the region. This patient's findings have some overlap with those seen in CLS, suggesting that a gene involved in MAP kinase signaling may be present in the deleted region of chromosome 10q25.1-25.3. patients with a phenotype consistent with CLS, but lacking a family history suggestive of an X-linked disorder, should be evaluated with chromosome analysis paying particular attention to the region 10q25.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
7/80. Recurrent hyphema in an aphakic child: Swan syndrome.In 1973, Swan described 3 patients who developed hyphema months to years after uncomplicated cataract surgery. He noted focal vascularization from an ingrowth of episcleral vessels at the cataract wound site, resulting in recurrent intraocular bleeding. Swan syndrome has been reported following intracapsular cataract extraction, extracapsular cataract extraction (including clear corneal incisions), iridocyclectomy, and glaucoma filtering procedures. patients typically present with sudden painless blurred vision, often upon awakening, which may or may not be preceded by physical strain or trauma. Other patients are asymptomatic and diagnosed with hyphema or anterior chamber red blood cells on routine examination. The hyphema often resolve spontaneously, making later diagnosis difficult. Gonioscopic visualization of the abnormal wound vessels is necessary for diagnosis. Without active bleeding, however, the fibrovascular tuft may be easily overlooked. We report a case of Swan syndrome in a 16-month-old boy after cataract extraction was performed. To our knowledge, Swan syndrome has not been reported in the pediatric population. Children represent a significant proportion of patients undergoing anterior segment surgery and Swan syndrome should be considered in the differential diagnosis of hyphema in this population.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
8/80. Intravenous administration of class I antiarrhythmic drugs induced T wave alternans in a patient with brugada syndrome.A 71-year-old man who experienced aborted sudden death was referred to our hospital. coronary artery disease and cerebral accident were ruled out by conventional tests. The 12-lead ECG obtained at rest showed a right bundle branch block pattern and ST segment elevation in leads V1 to V3. Double ventricular extrastimuli at coupling intervals >180 msec induced ventricular fibrillation (VF) twice during electrophysiologic study. Intravenous administration of procainamide accentuated ST segment elevation in leads V1 to V3, and visible T wave alternans was induced in leads V2 and V3 at a dose of 450 mg. Initiation of T wave alternans was not associated with changes of the cardiac cycle or development of premature beats. When procainamide infusion was discontinued, T wave alternans disappeared before the elevated ST segment returned to the control level. Pilsicainide also accentuated ST segment elevation and induced similar T wave alternans in leads V2 and V3. Class I antiarrhythmic drug-related T wave alternans has been reported rarely in brugada syndrome, but it may represent enhanced arrhythmogenicity of VF. We need to monitor closely and study the clinical implications of T wave alternans in brugada syndrome.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
9/80. Variability of the symptoms of chronic abacterial prostatitis/chronic pelvic pain syndrome during intermittent therapy with rectal prednisolone foam for ulcerative colitis.We describe the response of symptoms of chronic abacterial prostatitis/chronic pelvic pain syndrome (CAP/PPS) in a man treated with rectal prednisolone for concomitant ulcerative colitis. The temporal relationship of the symptoms of CAP/PPS to starting and stopping the topical corticosteroid over 2 treatment cycles lends further anecdotal support to our hypothesis that treatment of the immune-mediated response in this chronic condition has a beneficial effect upon symptomatic outcome.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
10/80. Hypothenar hammer syndrome caused by posttraumatic aneurysm of the ulnar artery.The so-called hypothenar hammer syndrome is a rare entity caused by lesions of the ulnar artery secondary to repetitive trauma to the hypothenar eminence, typically found in persons working with vibrating tools. Its clinical symptoms are pain, stiffness and whitening of the smitten fingers, sometimes in combination with Raynaud's syndrome. Angiographic evaluation of the smitten forearm and hand reveals occlusions, kinking, vasospasm and stenoses of the arteries in the hand and fingers. An aneurysm of the ulnar artery causing the hypothenar hammer syndrome is an even more rare morphological finding. The difficult aspect of treating a hypothenar hammer syndrome is to reopen the occluded vessels. Eventually, circulation deteriorates and skin lesions of the fingers may occur. The advantage of an isolated aneurysm of the ulnar artery is that normal circulation can be restored by vascular surgery, for example, with a vessel interponate. Surgical removal of the isolated aneurysm helps to prevent microembolism to the distal arteries and consequent deterioration of peripheral circulation. We report a young patient who presented with clinical symptoms of the hypothenar hammer syndrome and an aneurysm of the distal ulnar artery, diagnosed by magnetic resonance angiography. The only likely cause of the aneurysm was a bicycle accident some months prior to the occurrence of the aneurysm. The patient underwent vascular surgery and has been free of symptoms during six months of follow-up. A control magnetic resonance angiography performed one month after surgery revealed a normal vascular morphology.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
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