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Type III Patients (type + iii_patient)
Selected AbstractsSphincter of Oddi dysfunction: role of sphincterotomyDIGESTIVE ENDOSCOPY, Issue 4 2001Choichi Sugawa Sphincter of Oddi dysfunction (SOD) is one of the causes of post-cholecystectomy syndrome and biliary pain and is a challenge from both the diagnostic and therapeutic points of view. Sphincter of Oddi dysfunction is typically diagnosed months to years after cholecystectomy. Continued biliary type pain after cholecystectomy may occur in as many as 10,20% of patients. Ten percent or more of these patients may eventually be shown to have SOD. The syndrome is often associated with a variety of other gastrointestinal disorders thought to be caused by dysmotility. According to the Milwaukee classification, patients with biliary pain can be divided into three types. Type I patients show all the objective signs suggestive of a disturbed bile outflow (i.e. elevated liver function tests, dilated common bile duct and delayed contrast drainage during endoscopic retrograde cholangiopancreatography). Type II patients have biliary type pain along with one or two of the criteria from type I. Type III patients have biliary pain only, with no other abnormalities. The present paper will focus primarily on SOD syn-drome, papillary stenosis and the diagnostic and therapeutic approaches, in particular endoscopic sphincterotomy. [source] Cerebral metastasis and other central nervous system complications of pleuropulmonary blastoma,,PEDIATRIC BLOOD & CANCER, Issue 3 2007John R. Priest MD Abstract Background Pleuropulmonary blastoma (PPB) is a rare tumor of pleura and lung in young children. Central nervous system (CNS) complications, particularly cerebral parenchymal metastases, occur in aggressive forms of PPB: Types II and III PPB. This article evaluates cerebral and meningeal metastases, cerebrovascular events (CVA) caused by tumor emboli, spinal cord complications, and intracranial second malignancies in PPB. Procedure International PPB Registry and literature cases were evaluated for CNS events. Cerebral metastasis patients were evaluated for gender, side of origin of PPB, PPB Type, interval from diagnosis to metastasis, status of chest disease, treatment, and outcome. Standard statistical methods were used to calculate the cumulative probability of cerebral metastasis and survival following metastasis. Results Thirty-nine cases of cerebral metastasis were identified in 5/53 Registry Type II cases, 15/44 Registry Type III cases, and 19/143 literature Type II/III cases. Metastases occurred 1,60, median 11.5 months after diagnosis. Chest disease was controlled in 50% of children at time of metastasis. The cumulative probability of cerebral metastasis by 5 years from diagnosis was 11% for Type II patients (95%CI (confidence interval): 2,20%) and 54% for Type III patients (95%CI: 31,76%). Seven children survive cerebral metastasis. Other CNS complications were post-operative CVA (five cases), spinal cord invasion or compression (six), leptomeningeal disease (three), and second intracranial malignancies (two). Conclusions Cerebral metastasis is more frequent in PPB than in other childhood sarcomas. Clinicians should screen for this complication. Diverse other CNS complications are less common and require careful diagnosis. Pediatr Blood Cancer 2007;49:266,273. © 2006 Wiley-Liss, Inc. [source] Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South AmericaCLINICAL GENETICS, Issue 3 2007R Santamaria GM1 gangliosidosis is a lysosomal storage disorder caused by the absence or reduction of lysosomal ,-galactosidase activity because of mutations in the GLB1 gene. Three major clinical forms have been established: type I (infantile), type II (late infantile/juvenile) and type III (adult). A mutational analysis was performed in 19 patients with GM1 gangliosidosis from South America, mainly from Argentina. Two of them were of Gypsy origin. Main clinical findings of the patients are presented. All 38 mutant alleles were identified: of the 22 different mutations found, 14 mutations are described here for the first time. Among the novel mutations, five deletions were found. Four of them are relatively small (c.435_440delTCT, c.845_846delC, c.1131_1145del15 and c.1706_1707delC), while the other one is a deletion of 1529 nucleotides that includes exon 5 and is caused by an unequal crossover between intronic Alu sequences. All the described patients with GM1 gangliosidosis were affected by the infantile form, except for four unrelated patients classified as type II, III, and II/III (two cases). The two type II/III patients bore the previously described p.R201H mutation, while the adult patient bore the new p.L155R. The juvenile patient bore two novel mutations: p.S434L and p.G554E. The two Gypsy patients are homozygous for the p.R59H mutation as are all Gypsy patients previously genotyped. [source] Laser Hair Removal: Long-Term Results with a 755 nm Alexandrite LaserDERMATOLOGIC SURGERY, Issue 11 2001Sorin Eremia MD Background. Hypertrichosis is a common problem for which laser hair removal is becoming the treatment of choice. Optimal wavelength, pulse duration, spot size, fluence, and skin cooling parameters for various skin types have not yet been firmly established. Objective. To evaluate the long-term efficacy and safety of a 3-msec 755 nm alexandrite laser equipped with a cryogen cooling device for patients with Fitzpatrick skin types I,V. Methods. Eighty-nine untanned patients with skin types I,V underwent a total of 492 treatments of laser hair removal over a 15-month period. Each patient in the study underwent a minimum of three treatment sessions spaced 4,6 weeks apart (mean treatments 5.6). Retrospective chart review and patient interviews were used to establish hair reduction results. Treatment sites included the axillae, bikini, extremities, face, and trunk. A 3-msec pulse width, 755 nm alexandrite laser equipped with a cryogen spray cooling device was used in this study. Spot sizes of 10,15 mm were used. A spot size of 10 mm was used for fluences greater than 40 J/cm2, a spot size of 12 mm was used for fluences of 35,40 J/cm2, and spot sizes of 12 and 15 mm were used for fluences less than 30 J/cm2. Fluences ranging from 20 to 50 J/cm2 (mean fluence 36 J/cm2) were used. Results. The patients had a mean 74% hair reduction. Skin type I patients had an average of 78.5% hair reduction using a mean fluence of 40 J/cm2 (35,50 J/cm2) and a 10,12 mm spot size (12 mm in more than 95% of treatments). Skin type II patients had a mean 74.3% hair reduction using a mean fluence of 38 J/cm2 (30,40 J/cm2) and a 12,15 mm spot size. Skin type III patients had a mean 73.4% hair reduction using a mean fluence of 37 J/cm2 (25,40 J/cm2) and a 12,15 mm spot size. Skin type IV patients had a mean 71.0% hair reduction using a mean fluence of 31 J/cm2 (25,35 J/cm2) and a 12,15 mm spot size. A patient with skin type V had a 60% hair reduction using a mean fluence of 23 J/cm2 (20,25 J/cm2) and a 12,15 mm spot size. The efficiency of hair removal directly correlates significantly with the fluence used. Rare side effects included transient postinflammatory hyperpigmentation (n = 9; 10%), burn with blisters (n = 1; 1%), and postinflammatory hypopigmentation (n = 2; 2%). All complications resolved without permanent scarring. Conclusion. The 3-msec cryogen cooling-equipped alexandrite laser can safely and effectively achieve long-term hair removal in patients with skin types I,V. The best results are achieved in untanned patients with skin types I,IV. [source] Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patientsPEDIATRICS INTERNATIONAL, Issue 2 2009Omid Omrani Abstract Background:, Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. SMA is clinically classified into three subgroups based on the age of onset and severity. The majority of patients with SMA have homozygous deletions of exons 7 and 8 of the survival motor neuron (SMN) gene. The purpose of the present study was to determine the frequency of SMN and neuronal apoptosis inhibitory protein (NAIP) gene deletions in Iranian SMA patients. Experience in prenatal diagnosis of SMA in this population is also reported. Methods:, To study the frequency of deletions of SMN and NAIP genes in an Iranian sample group, 75 unrelated SMA patients (54 type I, eight type II and 13 type III) were analyzed according to the methods described by van der Steege et al and Roy et al. Results:, Homozygous deletion of SMN1 exons 7 and/or 8 were identified in 68 out of 75 patients (90%). Deletion of exon 5 of the NAIP gene was found in 40/54 of type I, 2/8 of type II and 1/13 of type III patients. Conclusions:, Deletion of the SMN1 gene is a major cause of SMA in Iran, and NAIP gene deletions were common in the present patients with type I SMA. Also, the incidence of NAIP deletion is higher in more severe SMA. [source] | ||||||||||