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Kinds of Other Patients Terms modified by Other Patients Selected AbstractsThe underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients,AMERICAN JOURNAL OF HEMATOLOGY, Issue 4 2009Tamar H. Taddei Mutations in GBA1 gene that encodes lysosomal glucocerebrosidase result in Type 1 Gaucher Disease (GD), the commonest lysosomal storage disorder; the most prevalent disease mutation is N370S. We investigated the heterogeneity and natural course of N370S GD in 403 patients. Demographic, clinical, and genetic characteristics of GD at presentation were examined in a cross-sectional study. In addition, the relative risk (RR) of cancer in patients compared with age-, sex-, and ethnic-group adjusted national rates of cancer was determined. Of the 403 patients, 54% of patients were homozygous (N370S/N370S) and 46% were compound heterozygous for the N370S mutation (N370S/other). The majority of N370S/N370S patients displayed a phenotype characterized by late onset, predominantly skeletal disease, whereas the majority of N370S/other patients displayed early onset, predominantly visceral/hematologic disease, P < 0.0001. There was a striking increase in lifetime risk of multiple myeloma in the entire cohort (RR 25, 95% CI 9.17,54.40), mostly confined to N370S homozygous patients. The risk of other hematologic malignancies (RR 3.45, 95% CI 1.49,6.79), and overall cancer risk (RR 1.80, 95% CI 1.32,2.40) was increased. Homozygous N370S GD leads to adult-onset progressive skeletal disease with relative sparing of the viscera, a strikingly high risk of multiple myeloma, and an increased risk of other cancers. High incidence of gammopathy suggests an important role of the adaptive immune system in the development of GD. Adult patients with GD should be monitored for skeletal disease and cancers including multiple myeloma. Am. J. Hematol., 2009. © 2009 Wiley-Liss, Inc. [source] Therapy-related leukemia following chemoradiotherapy for esophageal cancerEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 4 2010Naoya Mimura Abstract Chemoradiotherapy has improved the outcome of patients with esophageal cancer. Although a sufficiently long-time survival has resulted in the increase of several treatment-related late toxicities, little is still known about the incidence of secondary malignancies. In our hospital, 348 patients with esophageal cancer received chemotherapy consisting of nedaplatin and 5-fluorouracil and concurrent irradiation. Median and average follow-up durations were 8 and 21 months (1,92), respectively. Four patients developed leukemia after 19,48 months of follow-up. Two patients were diagnosed with overt leukemia from myelodysplastic syndrome presenting a complex karyotype, including the deletion of chromosome 5 or 7. Notably, one patient showed an additional chromosomal abnormality with t(9;22)(q34;q11). Other patients developed acute myeloid leukemia with t(9;22)(q34;q11) and Burkitt leukemia with t(8;14)(q24;q32). All patients eventually succumbed to leukemia. Platinum and fluorouracil have shown relatively lower risks for secondary malignancies in comparison with alkylating agents and topoisomerase II inhibitors. Especially, nedaplatin has never been described to introduce secondary neoplasms. Our report supports the idea that the concurrent administration of radiotherapy with these agents affects the risk of leukemia. Interestingly, rare balanced chromosomal abnormalities were observed in the present cases, thus providing new insights into the leukemogenesis of therapy-related leukemia. [source] Greening of the Tooth,Amalgam Interface during Extended 10% Carbamide Peroxide Bleaching of Tetracycline-Stained Teeth: A Case ReportJOURNAL OF ESTHETIC AND RESTORATIVE DENTISTRY, Issue 1 2002VAN B. HAYWOOD DMD ABSTRACT At-home bleaching with 10% carbamide peroxide in a custom-fitted tray has been shown to have some minor effects on certain brands of amalgam, pertaining to mercury release, but generally, effects on amalgam are not considered clinically significant. However, in this case report, a greening of the tooth structure in certain areas immediately adjacent to amalgam restorations in the maxillary and mandibular first molars occurred during tooth whitening. Other amalgam restorations in mandibular and maxillary second molars in the same mouth did not demonstrate any green discoloration of the teeth. Upon removal of the affected amalgam restorations, recurrent decay was present in the areas of tooth greening but not in other areas adjacent to the restoration. The teeth were restored with posterior composite restorations. Whether the green discoloration was a result of some loss of material from a particular brand of amalgam, indicating leakage, or indicative of original or recurrent tooth decay is unclear in this single-patient situation. Other patients in the same study did not demonstrate this occurrence. Dentists should be ready to replace amalgam restorations should this green discoloration in adjacent tooth structure occur during bleaching, in case decay is present. CLINICAL SIGNIFICANCE The unusual discoloration cited suggests that amalgam restorations in potentially esthetic areas, including the lingual of anterior teeth, should be replaced prior to bleaching, to avoid the problem of difficult stain removal or translucency allowing restoration visibility following bleaching. [source] Speech adaptation after treatment of full edentulism through immediate-loaded implant protocolsCLINICAL ORAL IMPLANTS RESEARCH, Issue 1 2008Liene Molly Abstract Objectives: The objective of the present study was to evaluate the influence of immediate loading of implants on speech adaptation. Material and methods: Ten patients (mean age 54, 6 females) were examined before surgery and 1, 3, 6 and 12 months afterwards. Articulation analysis was done using objective DAT-recoded data evaluated by two groups of speech and language therapists and a computer software program. Besides, patient VAS-scores, myofunctional problems and hearing impairment were recorded and analysed. Results: In the present study only one patient suffered from deteriorated speech after immediate loading. Other patients showed unaffected or improved articulation 3 to 6 months after surgery with a strident and interdental pronunciation mostly becoming addental. Furthermore, myofunctional problems occurred in one patient, other patients adapted to the new situation after three months. Hearing impairment did not influence speech pathology in this study. Conclusion: Immediate loading of oral implants does not seem to compromise the normal 3,6 months speech adaptation period. Whether such procedure presents advantages to the conventional 2-stage rehabilitation remains to be investigated. [source] Cryosurgery in the Treatment of Earlobe Keloids: Report of Seven CasesDERMATOLOGIC SURGERY, Issue 12 2005Tomas Fikrle MD Background. Keloids are benign cutaneous lesions that result from excessive collagen synthesis and deposition. Earlobe keloids in particular are seen as a complication of plastic surgery or piercing. Many different treatment modalities have been used, often with unsatisfactory results. Methods. We have made a retrospective analysis of seven young patients (ages 9 to 22 years) with earlobe keloids. Scarring followed plastic surgery in six cases and piercing in one case. All patients were treated with cryosurgery as the monotherapy. The freeze time and the number of sessions varied depending on the clinical findings, the effect of the treatment, and the patients' tolerance. Cryotherapy was started 6 to 24 months after keloid development. Results. Scar volume was reduced in all cases. Complete flattening in five patients and a pronounced reduction to a maximum of 25% of the previous thickness in one other patient were achieved. One patient discontinued the therapy because of soreness after only partial improvement. The procedure was painful for all patients; no further side effects were noticed. No recurrence was observed within 1 to 4.5 years of follow-up. Conclusion. We present an excellent effect of cryosurgery as the monotherapy for the treatment of earlobe keloid scars of young patients. TOMAS FIKRLE, MD, AND KAREL PIZINGER, MD, PHD, HAVE INDICATED NO SIGNIFICANT INTEREST WITH COMMERCIAL SUPPORTERS. [source] Surgical treatment of esophageal leiomyoma located near or at the esophagogastric junction via a thoracoscopic approachDISEASES OF THE ESOPHAGUS, Issue 2 2009Z. G. Li SUMMARY Esophageal leiomyoma can be enucleated safely and effectively by minimally invasive surgery. The laparoscopic approach has been a conventional option for this kind of tumor located near or at the esophagogastric (EG) junction. The aims of this study were to evaluate the surgical outcome of thoracoscopic resection of leiomyoma at the EG junction, and discuss factors affecting the incidence of postoperative gastroesophageal reflux. Fourteen patients who underwent thoracoscopic resection of esophageal leiomyoma located near or at the EG junction (<4 cm above the esophageal hiatus) from January 2002 to August 2007 were reviewed retrospectively. Tumor characteristics, surgical methods, and postoperative outcomes were evaluated. A left approach of video-assisted thoracoscopy was used in 13 patients; a right approach was used for the other patient, whose multiple tumors were located in the EG junction and mid-esophagus. Postoperative recovery was uneventful in all patients, with no mucosa leakage or other significant complications. Mean tumor size was 3.2 cm (1.2,6.0 cm). Of the 14 patients, two had serpiginous leiomyoma, two had multiple tumors, and the others had solitary tumors. Mean postoperative stay in hospital was 7 days (4,11 days). Postoperative dysphagia was not reported, although gastroesophageal reflux was noted in one patient. Thoracoscopic resection of esophageal leiomyomas near or at the EG junction is feasible, with a low prevalence of postoperative gastroesophageal reflux. [source] Randomized controlled trial of intrasphincteric botulinum toxin A injection versus balloon dilatation in treatment of achalasia cardiaDISEASES OF THE ESOPHAGUS, Issue 3-4 2001U. C. Ghoshal As the few randomized controlled trials available in the literature comparing botulinum toxin (BT) injection with established endoscopic treatment of achalasia cardia, i.e. pneumatic dilatation, showed conflicting results, we conducted a prospective randomized trial. Seventeen consecutive patients with achalasia cardia diagnosed during a period between December 1997 and February 2000 were randomized into two treatment groups [pneumatic dilatation by Rigiflex dilator (n=10), BT injection by sclerotherapy needle into four quadrants of lower esophageal sphincter (LES) (n=7) 80 units in five cases, 60 units in two cases] after dysphagia grading, endoscopy, barium esophagogram, and manometry, all of which were repeated 1 week after treatment. Patients were followed up clinically for 35.2 ± 14 weeks. Chi-squares, Wilcoxon rank-sum test, Kaplan,Meier method and log-rank tests were used for statistical analysis. After 1 week, 6/7 (86%) BT-treated vs. 8/10 (80%) dilatation-treated patients improved (P=NS). There was no difference in LES pressure and maximum esophageal diameter in the barium esophagogram in the two groups before therapy. Both therapies resulted in significant reduction in LES pressure. The cumulative dysphagia-free state using the Kaplan,Meier method decreased progressively in BT-treated compared with dilatation-treated patients (P=0.027). Two patients with tortuous megaesophagus, one of whom had failed dilatation complicated by perforation previously, improved after BT. One other patient in whom pneumatic dilatation had previously failed improved in a similar manner. BT is as good as pneumatic dilatation in achieving an initial improvement in dysphagia of achalasia cardia. It is also effective in patients with tortuous megaesophagus and previous failed pneumatic dilatation. However, dysphagia often recurs during 1-year follow up. [source] Aphasic or amnesic status epilepticus detected on PET but not EEGEPILEPSIA, Issue 2 2009Christine Dong Summary Purpose:, To describe five patients with ictal aphasia and one patient with ictal amnesia, who had focal positron emission tomography (PET) hypermetabolism but no clear ictal activity on electroencephalography (EEG). Methods:,18F-Fluorodeoxyglucose (FDG),PET scans with concomitant EEG were obtained in five patients with suspected ictal aphasia or ictal amnesia without ictal activity on EEG. We reviewed medical history, EEG, imaging data, and treatment outcome. Results:, Brain magnetic resonance imaging (MRI) showed no structural abnormalities in any of the patients. EEG showed left temporal irregular delta activity in three patients, with aphasia and nonspecific abnormalities in two other patients, all without clear ictal pattern. All patients demonstrated focal hypermetabolism on PET scan. The hypermetabolism was in the left frontotemporal region in patients with ictal aphasia and in the bilateral hippocampal region in the patient with amnesia. Three patients who received intravenous benzodiazepines during their episodes had transient clinical improvement. With antiepileptic drug (AED) treatment, symptoms gradually resolved in all patients. Concomitant resolution of PET hypermetabolism was documented in three patients who had follow up scans. One patient with ictal aphasia later developed recurrent episodes, each with recurrent PET hypermetabolism. This patient and one other patient required immune-modulating therapy in addition to AEDs. Discussion:, FDG-PET imaging should be considered as a diagnostic tool in patients with suspected ictal aphasia or amnesia, who fail to show clear evidence of ictal activity on EEG. [source] ,-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsyEPILEPSIA, Issue 5 2008Jun Natsume Summary Background:,-[11C]methyl-L-tryptophan (,-MTrp) positron emission tomography (PET) is a promising tool in the localization of the epileptogenic area in selected group of focal epilepsy patients. Electrophysiological evidence suggests the involvement of the neocortex in periventricular nodular heterotopia (PVNH). Purpose: To determine whether ,-MTrp PET can detect neocortical changes in patients with PVNH. Methods: Four patients (2 male, mean age 28, range 23,35 years) with PVNH and intractable seizures were studied. The functional image in each patient was compared with those from 21 healthy controls (mean age 34.6 ± 14.2 years) by using statistical parametric mapping (SPM). The location of increased ,-MTrp uptake was compared with the location of the EEG focus. A significant cluster was defined as a cluster with a height p = 0.005 and an extent threshold 100. Results:,-MTrp PET revealed increased cortical uptake in two of four patients. The area of increased ,-MTrp uptake in one patient was widespread. In the other patient, the area of increased uptake did not include the region where most seizures were generated on EEG. ,-MTrp PET did not show increased uptake in the heterotopic nodules in any of the patients. Conclusions:,-MTrp PET suggests abnormal metabolism of tryptophan in the neocortex. The increased uptake may be diffuse and may not co-localize with the EEG focus. This preliminary study suggests that ,-MTrp PET may be useful, in conjunction with other evaluations, in localizing epileptic focus in patients with PVNH and refractory seizures. [source] The "Forgotten" Cross-Tolerance Between Phenobarbital and Primidone: It Can Prevent Acute Primidone-Related ToxicityEPILEPSIA, Issue 10 2000Andres M. Kanner Summary Purpose: We report on the effect that pretreating patients with phenobarbital has on averting adverse events when primidone is introduced. Methods: Thirty patients with intractable partial epilepsy were pretreated with phenobarbital before starting primidone. Therapy with primidone was started at a dosage of 500 mg/day, and the phenobarbital was stopped. The primidone dose was then increased by 125 to 250 mg every 3 weeks until adverse events or a seizure-free state was reached. All previous antiep-ileptic medications were tapered down to yield a primidone monotherapy regimen. Results: Twenty-six patients (87%) tolerated the introduction of primidone with minimal or no adverse events. Only one patient had to discontinue primidone during the initial 4 weeks because of severe dizziness. This was the only patient in whom primidone monotherapy could not be reached because of adverse events. Three other patients experienced dizziness severe enough to interfere with their activities. This symptom disappeared in two patients after the dose was lowered; in the other patient, primidone was stopped and phenobarbital was restarted for another 4 days. No symptoms recurred when primidone was reintroduced on the fifth day. Conclusions: Pretreatment with phenobarbital can minimize the occurrence of intolerable adverse events associated with the introduction of primidone. [source] Clinical findings and outcomes of ulcerative keratomycosis in 30 horses in the mid-Atlantic United States (2006,2007)EQUINE VETERINARY EDUCATION, Issue 1 2010M. E. Utter Summary The purpose of this study was to determine the clinical course and outcome associated with keratomycosis in horses in the mid-Atlantic USA. Records of horses diagnosed with keratomycosis at New Bolton Center from November 2006 to November 2007 with positive fungal culture were retrospectively studied. Neither horses with ulcerative keratitis and a negative fungal culture nor those with stromal abscesses were included. Subject details, history, clinical findings, therapy and outcome were recorded. Thirty horses fitted both inclusion criteria (diagnosis of keratomycosis and positive corneal fungal culture). Fourteen of 30 cases occurred during summer. Aspergillus was the most commonly cultured fungal genus (17/30, or 57%) followed by Alternaria (4/30). Seventeen horses had positive bacterial and fungal cultures. Fifteen of 30 horses were treated surgically by a keratectomy and amnion (8) or conjunctival (7) graft. Itraconazole was the most common topical anti-fungal therapy and was utilised in 25/30 horses. Globe survival was 97% (29/30). All surviving globes had a positive menace response and were visual at the last examination. It was concluded that in the mid-Atlantic USA, fungal keratitis is common, has the highest incidence in summer, and is usually associated with a positive outcome. Aspergillus may be a relatively more common corneal pathogen in this region than elsewhere in the USA. Surgical cases were more likely to have fungal hyphae identified on cytology and tended to be hospitalised longer than medical cases. There was no apparent association between surgical disease and all other patient, organism and treatment variables. [source] Thoracic duct cyst: Sclerotherapy as alternative for surgical treatmentHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 3 2007Johannes J. Dool MD Abstract Background. Thoracic duct cysts of the cervical portion are rare benign lesions for which surgery is the treatment of choice. Methods. We present 2 cases of a thoracic duct cyst of the cervical portion. One patient was treated by surgery and the other patient by ethanol sclerotherapy. Results. After establishing diagnosis by radiologic assessment and chemical and cytological fine-needle aspirate of the cystic masses, both patients were treated successfully. Conclusion. Ethanol sclerotherapy provides an alternative therapy for thoracic duct cyst when evaluation establishes a high likelihood of clinical diagnosis. © 2006 Wiley Periodicals, Inc. Head Neck, 2007 [source] Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster,,HUMAN MUTATION, Issue 9 2008Karin Buiting Abstract Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes pre- and postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd(14)mat who show a maternal-only methylation pattern, but biparental inheritance for chromosome 14. In three of the patients loss of paternal methylation appears to be a primary epimutation, whereas the other patient has a paternally derived deletion of ,1,Mb that includes the imprinted DLK1-GTL2 gene cluster. These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster. Hum Mutat 0, 1,6, 2008. © 2008 Wiley-Liss, Inc. [source] Electrophysiologic and electrocardiographic characteristics of focal atrial tachycardia arising from superior tricuspid annulusINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 7 2008J. X. Yin Summary Objectives:, This study describes the electrophysiologic and electrocardiographic characteristics of focal atrial tachycardia (AT) arising from superior tricuspid annulus in six (1.9%) patients of a consecutive series of 320 patients. Methods:, Six patients (mean age 42 ± 22 years) with a mean cycle length of 326 ms of a consecutive series of 320 patients undergoing radiofrequency ablation for focal AT were mapped. Results:, During electrophysiologic study, tachycardia could be induced in five patients with programmed atrial extrastimuli while a spontaneous onset and offset with ,warm-up and cool-down' phenomenon was seen in the other patient. During tachycardia, P-wave morphology in Lead I, II, III and aVF was upright in all the six patients. The precordial leads were dominantly negative or isoelectric in V1,V2 and positive in V5,V6 with a transition at V3 or V4. Moreover, the tachycardia was sensitive to intravenous administration of adenosine triphosphate in five of six patients. Conclusions:, Radiofrequency ablation was performed successfully in all patients (mean 4.5 ± 1.2 applications). No recurrence of AT was observed after a mean follow-up of 8 ± 6 months. Thus, AT arising from superior tricuspid annulus is rare. Radiofrequency ablation of this kind of AT is safe and effective. [source] A rare connexin 26 mutation in a patient with a forme fruste of keratitis,ichthyosis,deafness (KID) syndromeINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 10 2009Ching Yin Neoh MBBS, MMed(Int Med) Background, Keratitis,ichthyosis,deafness (KID) syndrome is a rare ectodermal dysplasia characterized by generalized erythrokeratotic plaques, sensorineural hearing loss, and vascularizing keratitis. Cutaneous changes and hearing loss typically present in early childhood, whereas ocular symptoms present later. Mutations in the connexin (Cx) 26 gene, GJB2, are now established to underlie many of the affected cases, with the majority of patients harboring the p.D50N mutation. Methods, A rare patient demonstrating features of incomplete KID syndrome associated with an uncommon Cx26 gene mutation is described. Results, The patient presented late in adolescence with partial features of KID syndrome. There was limited cutaneous involvement and the rare association of cystic acne. Both hearing impairment and ophthalmic involvement were mild in severity. Genetic mutation analysis revealed a previously described, rare mutation in GJB2, resulting in a glycine to arginine change at codon 12 (p.G12R). Conclusions, This report describes a patient exhibiting characteristics suggestive of a late-onset, incomplete form of KID syndrome with the GJB2 mutation (p.G12R). The p.G12R mutation has only been described in one other patient with KID syndrome, whose clinical presentation was not characterized. [source] Value of selective upper tract cytology for recognition of upper tract tumors after treatment of superficial bladder cancerINTERNATIONAL JOURNAL OF UROLOGY, Issue 5 2003ATAY GÖ Abstract Background: The value of selective upper urinary tract (UT) cytology in patients who are asymptomatic and tumor free at control cystoscopy after being treated for superficial bladder carcinoma has not been studied. The present study was performed to evaluate the value of selective UT cytology in patients who are tumor free at control cystoscopy after being treated for superficial bladder cancer. Methods: Forty-seven consecutive patients who had undergone definitive surgical treatment for superficial bladder cancer at least 24 months prior and were tumor free at control cystoscopy were evaluated with bladder wash for cytology as well as selective UT urine cytology by catheterization of both ureteral orifices. Of the 47 patients, disease was stage Ta in 30 (63.8%), T1 in 15 (31.9%) and Ta/Tcis in 2 (4.3%). Primary tumor was unifocal in 24 (51.1%) and multifocal in 23 (48.9%) patients. The time elapsed from the initial diagnosis to the last evaluation ranged from 2 to 21 years (mean 5.39). Results: UT cytology was positive in 2 cases. Although, excretory urography (IVP) revealed mild pelvicalicectasis in 1 of these 2 patients, ureterorenoscopy (URS) revealed no abnormality. In the other patient with normal IVP and retrograde pyelography (RGP), URS revealed a ureteral tumor 5 mm in diameter. Although the UT cytology was normal in the remaining 45 patients, IVP revealed right hydronephrosis in 1 patient and URS revealed multiple ureteral tumors. Conclusion: Given the normal appearance of the UT, it is highly unlikely that these patients have tumor in the UT. Thus, during the follow-up of patients with superficial bladder cancer, it is not useful to perform UT select cytology in the absence of any identifiable filling defects in the upper urinary tract. [source] Repair of Complete Atrioventricular Septal Defect with Tetralogy of Fallot:JOURNAL OF CARDIAC SURGERY, Issue 2 2004Literature Review, Our Experience Materials and Methods: Between January 1990 and January 2002, 17 consecutive children with CAVSD-TOF underwent complete correction. Nine patients (53%) underwent previous palliation. Mean age at repair was 2.9 ± 1.9 years. Mean gradient across the right ventricular outflow tract was 63 ± 16 mmHg. All children underwent closure of septal defect with a one-patch technique, employing autologous pericardial patch. Maximal tissue was preserved for LAVV reconstruction by making these incisions along the RV aspect of the ventricular septal crest. LAVV annuloplasty was performed in 10 (59%) patients. Six patients (35%) required a transannular patch. Results: Three (17.6%) hospital deaths occurred in this series. Causes of death included progressive heart failure in two patients and multiple organ failure in the other patient. Two patients required mediastinal exploration due to significant bleeding. Dysrhythmias were identified in 4 of 11 patients undergoing a right ventriculotomy versus none of the patients undergoing a transatrial transpulmonary approach (p = ns). The mean intensive care unit stay was 3.2 ± 2.4 days. Two patients required late reoperation due to severe LAVV regurgitation at 8.5 and 21 months, respectively, after the intracardiac complete repair. The mean follow-up time was 36 ± 34 months. All patients survived and are in NYHA functional class I or II. The LAVV regurgitation grade at follow-up was significantly lower than soon after operation, 1.1 ± 0.4 versus 1.7 ± 0.5 (p = 0.002). At follow-up, the mean gradient across the right ventricular outflow tract was 17 ± 6 mmHg, significantly lower than preoperatively (p < 0.001). Conclusions: Complete repair in patients with CAVSD-TOF seems to offer acceptable early and mid-term outcome in terms of mortality, morbidity, and reoperation rate. Palliation prior to complete repair may be reserved in specific cases presenting small pulmonary arteries or severely cyanotic neonates. The RVOT should be managed in the same fashion as for isolated TOF; however, a transatrial transpulmonary approach is our approach of choice. (J Card Surg 2004;19:175-183) [source] Cerebral Diffusion-Weighted Magnetic Resonance Imaging: A Tool to Monitor the Thrombogenicity of Left Atrial Catheter AblationJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 1 2006LARS LICKFETT M.D. Introduction: Cerebral embolism and stroke are feared complications of left atrial catheter ablation such as pulmonary vein (PV) ablation. In order to assess the thrombogenicity of left atrial catheter ablation, knowledge of both clinically evident as well as silent cerebral embolism is important. The aim of the current study was to examine the use of diffusion-weighted magnetic resonance imaging (DW-MRI) for detection of cerebral embolism, apparent as well as silent, caused by PV catheter ablation. Methods and Results: Twenty consecutive patients without structural heart disease undergoing lasso catheter-guided ostial PV ablation using an irrigated-tip ablation catheter were studied. Cerebral MRI including DW single-shot spin echo echoplanar, turbo fluid attenuated inversion recovery, and T2-weighted turbo spin echo sequences were performed the day after the ablation procedure. Ten patients also underwent preprocedure cerebral MRI. All ablation procedures were performed without acute complications. A mean of 3.2 ± 0.6 PVs were ablated per patient. No patient had neurological symptoms following the procedure. In 2 of 20 patients (10%), DW-MRI revealed new embolic lesions, which were located in the right periventricular white matter in one and in the left temporal lobe in the other patient. There was no statistically significant difference in age, history of hypertension, left atrial volume, and procedure duration between the 2 patients with and the 18 patients without cerebral embolism following AF ablation. Conclusion: This is the first study using highly sensitive DW-MRI of the brain to detect asymptomatic cerebral embolism after left atrial catheter ablation. Even small, clinically silent, embolic lesions can be demonstrated with this technique. DW-MRI can be used to monitor and compare the thrombogenicity of different AF ablation approaches. [source] Post-transplant EBV-negative anaplastic large-cell lymphoma with dual rearrangement: a propos of two cases and review of the literatureJOURNAL OF CUTANEOUS PATHOLOGY, Issue 2007Cynthia M. Magro Background:, Post-transplant lymphoproliferative disease (PTLD) is a recognized complication of the immunosuppressive regimens associated with solid organ transplantation. The vast majority of these lesions represent monomorphic B-cell lymphoproliferative disease. Rarely, however, T-cell malignancies may emerge, the commonest being anaplastic large-cell lymphoma (ALCL). Materials and methods:, We describe two patients who developed a post-transplant ALCL several years after transplantation. Comprehensive phenotypic and molecular studies were conducted. The technique of capillary gel electrophoresis was employed. Results:, One patient died of unrelated causes, while the other patient did achieve clinical remission. The neoplastic cell populace was composed of CD4-positive cytotoxic T cells exhibiting CD30 positivity. There were very few B cells. Striking and prominent clonally restricted infiltrates were identified whereby there was both a heavy chain and T-cell beta gene rearrangement. There was no evidence of lytic Epstein-Barr virus (EBV) infection. Conclusion:, T-cell-associated PTLD does not appear to be directly attributable to EBV infection. Iatrogenic immune dysregulation may result in excessive T-cell proliferation to various antigenic stimuli, hence resembling other drug-associated cell lymphoproliferative conditions such as angioimmunoblastic lymphadenopathy. The dual rearrangement may have some implications regarding the cell of origin. [source] Histologic features of melanocytic nevi seen in association with mycosis fungoidesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 10 2003Jennifer M. McNiff Background:, Many different tumors have been reported to occur simultaneously as collision lesions. To date, no such events have been reported between mycosis fungoides (MFs) and melanocytic neoplasms. Methods:, Two cases are presented in which patches of MF were superimposed on melanocytic nevi. In addition, 967 biopsies of MF from 411 patients were identified in an 8-year retrospective database search. Patient pathology history summaries were reviewed to identify inflamed nevi, atypical nevi, and melanoma submitted for histologic evaluation from this population. Results:, The occurrence of MF in a congenital nevus was associated with a halo phenomenon restricted to the affected region of the nevus in one patient. In the other patient, nests of two morphologies (lymphocytic and melanocytic) in the same biopsy presented a potentially confusing histologic picture. No other cases of MF superimposed on a nevus were identified in 967 biopsies from 411 patients with a histological diagnosis of MF seen over the past 8 years. In this population, 57 biopsies of melanocytic lesions were identified from 28 patients, including three atypical nevi and three melanomas. Conclusions:, The presence of MF superimposed on a nevus is rare and may lead to confounding histologic features or the development of a halo nevus phenomenon. [source] Introduction to a culture, process, and philosophyJOURNAL OF HEALTHCARE RISK MANAGEMENT, Issue 4 2010CPHRM, DFASHRM, MT(ASCP), Robert F. Bunting Jr. MSA Patient- and family-centered care is not a new concept, but it has garnered increased interest and support during the last decade. While most healthcare providers are excellent at providing clinical care, the practice of addressing the myriad other patient and family needs requires a conscious and collaborative effort. Though the staff of hospitals and other patient settings across the country have achieved various degrees of successful implementation of patient- and family-centered care initiatives, the success has not been universal. An objective evaluation of patient- and family-centered initiatives is needed. However, underdeveloped evaluation processes should not prevent the implementation of best practices that already have shown demonstrable success. [source] Single-Center Experience with the HelexÔ Septal Occluder for Closure of Atrial Septal Defects in ChildrenJOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 1 2003ROBERT N. VINCENT M.D. Catheter closure of atrial septal defects (ASDs) is an accepted procedure among pediatric cardiologists. We report our early experience with the newest of these devices in clinical trials in the United States. Between April and October 2001, 14 patients were enrolled in an FDA phase II multicenter trial comparing the results of ASD closure using the HELEXÔ Septal Occluder to a surgical control group. Of the 14 patients, devices were placed and left in 13, one being removed for an excessive residual leak despite placing the largest device available. Of the remaining 13 patients, all patients had successful closure of their defects. An average of 1.8 devices/patient were deployed, reflecting the learning curve for this new device and new delivery style. Six devices were replaced because of excessive residual leaks, three for premature lock release, and two for improper seating of the device. There were no procedural complications, however, one patient required device removal 4 months postimplant for possible allergic reaction to nickel. The same patient had removal of stainless steel sternal wires for the same reason. At the 6-month follow-up, 11 of 13 patients had complete closure of the ASD, the other two having small, hemodynamically insignificant left to right shunts. In one of these patients, there was complete closure at the 12-month follow-up, whereas the other patient awaits the 1-year evaluation. Early experience at our institution has demonstrated the ease of use of this device, its complete retrievability, and excellent closure of small to moderate ASDs in children. (J Interven Cardiol 2003;16:79,82) [source] Serologic and genotypic analysis of a series of herpes simplex virus type 1 isolates from two patients with genital herpesJOURNAL OF MEDICAL VIROLOGY, Issue 9 2009Kenichi Umene Abstract Herpes simplex virus type 1 (HSV-1) has been reported increasingly as a cause of genital herpes, although HSV-1 is usually associated with oro-labial herpes. In the present study, serum specimens and materials for viral isolation were obtained serially from two patients with recrudescent HSV-1 genital infections to study serology and molecular epidemiology. Recurrent episodes, during which HSV-1 was isolated, were followed by an increase in the level of anti-HSV-1 antibody, suggesting a booster effect from re-exposure to viral antigens and the possible usefulness of the variation in the level of anti-HSV-1 antibody to diagnose recurrence. While genotypes of HSV-1 isolates obtained from one patient were different from those from the other patient, genotypes of sequential HSV-1 isolates obtained from the same patient were the same, implying that the recrudescent genital lesions of the two patients could be attributed to endogenous recurrence of a latent virus. Sera from one patient neutralized HSV-1 isolates obtained from the other patient as well as HSV-1 isolates obtained from the same patient. An HSV-1 isolate obtained during a later episode in one patient was neutralized by sera taken before/during the later episode of the same patient, as effectively as an HSV-1 isolate obtained during an earlier episode in the same patient; thus, in these two cases, HSV-1 was assumed to have multiplied during recurrence despite the presence of an anti-HSV-1 antibody that could neutralize experimentally HSV-1. J. Med. Virol. 81:1605,1612, 2009. © 2009 Wiley-Liss, Inc. [source] Limbic Encephalitis Investigated by 18FDG-PET and 3D MRIJOURNAL OF NEUROIMAGING, Issue 1 2001Jan Kassubek MD ABSTRACT Two patients with clinically probable or possible limbic encephalitis (LE) are reported, both cases with typical findings in clinical symptoms (severe neuropsychological deficits and complex partial seizures) and in routine magnetic resonance imaging (MRI) (hyperintense mesiotemporal lesions). Underlying malignancy was identified (rectal carcinoma) in one case but could not be detected in the other patient. The 2 patients were investigated by cerebral 18F-fluoro-2-deoxy-D-glucose,positron emission tomography (FDG-PET) and 3-dimensional (3D) MRI, and abnormalities in metabolic activity were mapped using coregistration of spatially normalized PET and MRI. Highly significant focal hypermetabolism in bilateral hippocampal areas was found in both cases. The authors' findings support FDG-PET coregistered to 3D MRI as a potentially valuable additional tool in the imaging diagnostics of LE. Results are discussed with respect to the clinical symptoms and previously reported imaging findings in the disease. [source] Histological characterization of Darier's disease in Tunisian familiesJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 10 2009S Kassar Abstract Background, Darier's disease (OMIM 124200) is an autosomal-dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo-plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2+ ATPase type 2 isoform (SERCA2). Objective, We report histological investigations of six unrelated Tunisian families including 15 affected individuals with Darier's disease mutations. Results, The typical histological features of Darier's disease have been observed in the 15 patients. Variable histological features have been observed among Tunisian patients ranging from mild to moderate lesions of Darier's disease. A significant correlation has been observed between the clinical presentation of the Darier's disease (mild or moderate) and the intensity of the histological features. Isolated acral form of Darier's disease was seen in one case. Two distinct original associations have been observed: Darier's disease/pemphigus vulgaris in one patient and Darier's disease/ichtyosis in the other patient. Conclusion, Our findings confirmed the clinical heterogeneity of Darier's disease on the basis of histological study. The intensity of the histological features could be closely correlated to the severity of Darier's disease clinical presentation. [source] Cryptogenic fulminant hepatic failure in infancy: Report of 2 cases with unique vascular obstructive changes in native liversLIVER TRANSPLANTATION, Issue 9 2006Naoki Shimojima Although the causes of fulminant hepatic failure (FHF) remain cryptogenic in many cases, a few reports have reviewed the pathological findings of native livers to evaluate the etiology. We report 2 cases of infantile cryptogenic FHF with unique vascular obstructive changes in the native livers. Clinically, it was notable that these 2 patients developed FHF very early in life, at 2 months and 5 months of age, respectively. One patient died from chronic rejection associated with hepatic veno-occlusive disease 4 months after transplantation. Histologically, hepatocytes in the native livers were completely destroyed in both patients, and vascular findings revealed obstruction of central veins in 1 patient and obstruction of portal veins in the other patient. Although the pathogenesis of vascular obstructions is not yet understood, this study suggests that an obstructive vascular event may be a contributing etiologic factor of FHF in infancy. Liver Transpl 12:1418,1422, 2006. © 2006 AASLD. [source] The Arabic ICIQ-UI SF: An alternative language version of the English ICIQ-UI SFNEUROUROLOGY AND URODYNAMICS, Issue 3 2006H. Hashim Abstract Aims Urinary incontinence (UI) is a common and distressing condition. A variety of questionnaires are currently available to assess UI and its impact on patients' lives. However, most have not been adapted for international use. Following a systematic review of the literature and existing questionnaires the International Consultation on Incontinence short form questionnaire (ICIQ-UI SF) was developed, and has since been translated into many languages for local use. This paper reports the development and validation of the first UI questionnaire in the Arabic language. The development of this questionnaire will facilitate the assessment of UI in both clinical practice and research in the Middle-East. Methods Translation and validation of the Arabic version of the ICIQ-UI is described. Standard methods of translation by native Arabic and English speakers (including translation and back translation) are followed. The psychometric properties of the questionnaire, including its validity, reliability and sensitivity to change, are examined. The validation of the questionnaire involved patients attending urology outpatient clinics in two Middle-Eastern countries. Results The Arabic ICIQ-UI SF was found to be valid, reliable and responsive, indicating that the psychometric properties of the questionnaire have remained constant throughout the adaptation process. Furthermore, the findings of the psychometric testing confirm those found for the UK-English ICIQ-UI SF. Conclusions The development of this questionnaire will allow the study of Arabic speaking groups with UI in many countries around the world. This may act as an example to initiate the translation and validation of other patient reported outcomes into the Arabic language, thereby enabling more multinational and cross-cultural research into diseases in given areas. Neurourol. Urodynam. © 2006 Wiley-Liss, Inc. [source] Dissociated Activity and Pulmonary Vein Fibrillation Following Functional Disconnection:PACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 6 2003Impact for the Arrhythmogenesis of Focal Atrial Fibrillation The present study sought to investigate the electrophysiological properties of isolated pulmonary veins following successful radiofrequency (RF) catheter ablation in patients with paroxysmal atrial fibrillation (PAF). Overall, 71 pulmonary veins in 37 consecutive patients (age:56 ± 9 years) with recurrent PAF were targeted for RF ablation at the ostial region in order to achieve a complete functional block. Following disconnection, the incidence of dissociated pulmonary vein (PV) activity and its response to orciprenalin were studied. RF ablation abolished conduction in 67 (94%) of 71 potentially arrhythmogenic PVs after a mean of10.7 ± 6.4 RFapplications for each PV. After ablation, spontaneous dissociated automatic activity (9 to 52 beats/min, median 27) was found in 6 out of 67 isolated PVs (left superior:n = 1, left inferior:n = 1, right superior:n = 2, common left PV:n = 2). Slight acceleration (13 to 68 beats/min, median 29) of dissociated PV activity was observed during infusion of orciprenalin. Following isolation, initiation of sustained or nonsustained local fibrillation was recorded in only two cases of the common left sided PV with preceding automatic activity. In one patient PV fibrillation occurred during orciprenalin infusion following a repetitive response to a dissociated automatic rhythm with increasing duration as well as destabilization. In the other patient, PV fibrillation occurred immediately after the occurrence of PV automaticity. Slow dissociated automatic rhythms are detectable within 9% of disconnected PVs. The unique anatomic substrate of common left PVs seem to favor the occurrence of local fibrillation following isolation. The initiation pattern of fibrillation within the isolated PV has pathophysiological implications and underlines the contribution of multiple factors to the onset and sustenance of PAF. (PACE 2003; 26:1363,1370) [source] Musculoskeletal injuries resulting from patient handling tasks among hospital workersAMERICAN JOURNAL OF INDUSTRIAL MEDICINE, Issue 7 2009Lisa A. Pompeii PhD Abstract Background The purpose of this study was to evaluate musculoskeletal injuries and disorders resulting from patient handling prior to the implementation of a "minimal manual lift" policy at a large tertiary care medical center. We sought to define the circumstances surrounding patient handling injuries and to identify potential preventive measures. Methods Human resources data were used to define the cohort and their time at work. Workers' compensation records (1997,2003) were utilized to identify work-related musculoskeletal claims, while the workers' description of injury was used to identify those that resulted from patient handling. Adjusted rate ratios were generated using Poisson regression. Results One-third (n,=,876) of all musculoskeletal injuries resulted from patient handling activities. Most (83%) of the injury burden was incurred by inpatient nurses, nurses' aides and radiology technicians, while injury rates were highest for nurses' aides (8.8/100 full-time equivalent, FTEs) and smaller workgroups including emergency medical technicians (10.3/100 FTEs), patient transporters (4.3/100 FTEs), operating room technicians (3.1/100 FTEs), and morgue technicians (2.2/100 FTEs). Forty percent of injuries due to lifting/transferring patients may have been prevented through the use of mechanical lift equipment, while 32% of injuries resulting from repositioning/turning patients, pulling patients up in bed, or catching falling patients may not have been prevented by the use of lift equipment. Conclusions The use of mechanical lift equipment could significantly reduce the risk of some patient handling injuries but additional interventions need to be considered that address other patient handling tasks. Smaller high-risk workgroups should not be neglected in prevention efforts. Am. J. Ind. Med. 52:571,578, 2009. © 2009 Wiley-Liss, Inc. [source] Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weaknessANNALS OF NEUROLOGY, Issue 5 2006Terumi Murakami MD Objective The fukutin gene (FKTN) is the causative gene for Fukuyama-type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation. In contrast with the severe dystrophic involvement of skeletal muscle, cardiac insufficiency is quite rare. Fukuyama-type congenital muscular dystrophy is one of the disorders associated with glycosylation defects of ,-dystroglycan, an indispensable molecule for intra-extra cell membrane linkage. Methods Protein and functional analyses of ,-dystroglycan and mutation screening of FKTN and other associated genes were performed. Results Surprisingly, we identified six patients in four families showing dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence, associated with a compound heterozygous FKTN mutation. One patient died by rapid progressive dilated cardiomyopathy at 12 years old, and the other patient received cardiac implantation at 18 years old. Skeletal muscles from the patients showed minimal dystrophic features but have altered glycosylation of ,-dystroglycan and reduced laminin binding ability. One cardiac muscle that underwent biopsy showed altered glycosylation of ,-dystroglycan similar to that observed in a Fukuyama-type congenital muscular dystrophy patient. Interpretation FKTN mutations could cause much wider spectrum of clinical features than previously perceived, including familial dilated cardiomyopathy and mildest limb girdle muscular dystrophy. Ann Neurol 2006 [source] | ||||||||||||||||||||||||||||||||||||||||