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III Patients (iii + patient)
Kinds of III Patients Selected AbstractsIdentification 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] Pressor Therapy in Critically III PatientsJOURNAL OF VETERINARY EMERGENCY AND CRITICAL CARE, Issue 1 2000ACVECC, ACVIM, James S. Wohl DVM Diplomate Summary Vasopressors are agents that increase systemic vascular resistance by increasing vasoconstriction. Therapy with intravenous vasopressors may be required in critically ill patients when efforts to optimize cardiac output and blood pressure with intravascular fluid therapy fail. Increasing systemic vascular resistance can promote a favorable perfusion pressure gradient to vital organs in critically ill patients with severe, unresponsive vasodilation. Improperly administered, vasopressors may impede cardiac output and reduce oxygen transport to vital tissue sites. The understanding of systemic and regional effects of vasopressors is currently evolving. Recent literature of the commonly used agents is reviewed. Individual drugs, drug combinations, and potential new therapies are discussed. (Vet. Emerg. & Crit. Care, 10:19,33, 2000) [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] Sphincter 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] Instant centre frequency at anaesthetic induction , a new way to analyse sympathovagal balance,FUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 1 2003Edmundo Pereira De Souza Neto Abstract The instant centre frequency (ICF) of RR interval has been proposed as a global index to analyse the sympathovagal interaction in the heart. The aim of this study was to assess the ICF during anaesthesia to test if it can reliably capture the neural control of the cardiovascular system. Twenty-four ASA II or III patients scheduled for cardiac surgery were included in the study. They were allocated in two groups: control, no treatment (group 1, n = 12), and beta-adrenergic blockade by atenolol (group 2, n = 12). Spectra of pulse interval series were computed with a time,frequency method and they were divided into: very low frequency (VLF, 0.000,0.040 Hz), low frequency (LF, 0.050,0.150 Hz) and high frequency (HF, 0.160,0.500 Hz). Normalized power was obtained by dividing the cumulative power within each frequency band (LF or HF) by the sum of LF and HF; the ratio of LF/HF was also calculated. Instant centre frequency is a time-varying parameter that the evolution along time of the gravity centrum of a local spectrum. All spectral indexes were recorded at the following time points: before induction, after induction and before intubation, during intubation, and after intubation. The atenolol group had lower normalized LF and the LF/HF ratio (P < 0.05) higher HF before induction; and lower LF/HF ratio after induction and before intubation (P < 0.05). The ICF was higher in atenolol group at all times. The ICF shifted towards HF frequency after induction and before intubation and shifted towards LF during intubation in both groups. The autonomic nervous system control on the heart through the interaction of sympathetic and parasympathetic reflex mechanisms could be studied by the ICF. The ICF may assess the autonomic cardiac modulation and may provide useful information for anaesthetic management. [source] Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL,,HUMAN MUTATION, Issue 6 2002S. Lucchiari Abstract Deficiency of amylo-1,6-glucosidase, 4-,-glucanotransferase enzyme (AGL or glycogen debranching enzyme) is causative of Glycogen Storage Disease type III, a rare autosomal recessive disorder of glycogen metabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different subjects. The aim of this study was the molecular characterisation of eight unrelated patients from an ethnically heterogeneous population (six Italians, one from India and another one from Tunisia). We describe six novel mutations responsible for the disease (C234R, R675W, 2547delG, T38A, W1327X, IVS6 +3 A>G) and the presence in two Italian subjects of a splice variant (IVS21+1 G>A) already described elsewhere. This last one is confirmed to be the most frequent mutation among the Italian patients come to our observation, accounting for 28% of 21 patients. One subject was found to be a compound heterozygous. Our data confirm the substantial genetic heterogeneity of this disease. Consequently, the strategy of mutation finding based on screening of recurrent common mutations is limited, as far as regards Italian GSD III patients, to check for the presence of IVS21+1 G>A. © 2002 Wiley-Liss, Inc. [source] Patterns of Accelerated Junctional Rhythm During Slow Pathway Catheter Ablation for Atrioventricular Nodal Reentrant Tachycardia: Temperature Dependence, Prognostic Value, and Insights into the Nature of the Slow PathwayJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 3 2000ALAN B. WAGSHAL M.D. Slow Pathway Accelerated Junctional Rhythm. Introduction: Although accelerated junctional rhythm (AJR) is a knuwn marker for successful slow pathway (SP) ablation sites. AJR may just be a regional effect of the anisotropic conduction properties of this area of the heart. We believe that detailed assessment of the AJR might provide insight into the SP specificity of this AJR and perhaps the nature of the SP itself. Methods and Results: Our ablation protocol consisted of 30-second, 70°C temperature-controlled ablation pulses with assessment after each pulse. Serial booster ablations were performed at the original successful site and at least 2 to 3 nearby sites to assess for residual AJR after the procedure in 50 consecutive SP ablations. We defined three distinct patterns of AJR: continuous AJR that persisted until the end of energy delivery (group 1, 25 patients); alternating or "stuttering" AJR that persisted throughout energy delivery (group II, 9 patients); and AJR that ended abruptly during energy delivery (group III, 16 patients). Mean ablation temperatures in the three groups was 57°± 5°C, 54°± 5°C, and 63°± 5°C, respectively (P = 0.0002 for groups I and II vs group III). Ten of 34 (29%) patients in groups I and II ("low-temperature ablation") exhibited residual SP (jump and/or single echo heats) despite tachycardia noninducibility, and 25 of 34 (73%) patients had residual AJR during the booster ablations, but neither of these was seen in any group III patients. Conclusion: Ablation temperature correlates with the pattern of AJR produced during SP ablation. That higher temperature lesions simultaneously abolish all SP activity as well as the focus of AJR suggests that this AJR is specific for the SP and is not a nonspecific regional effect. [source] Subacute sclerosing panencephalitis: Relationship between clinical stage and diffusion-weighted imaging findingsJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 3 2006Alpay Alkan MD Abstract Purpose To investigate the relationship between clinical stages and apparent diffusion coefficient (ADC) changes in the brain of patients with subacute sclerosing panencephalitis (SSPE). Materials and Methods A total of 18 patients with stage II (N = 11) and III (N = 7) SSPE and 11 age-matched controls underwent routine MRI and diffusion-weighted imaging (DWI). The ADC values were automatically calculated. Seven distinct neuroanatomic structures (frontal, parieto-occipital, and cerebellar white matter; deep white matter; thalamus; basal ganglia; and brainstem) were selected for analysis in the patient and control groups. Results Hyperintensities in the periventricular and subcortical white matters on T2-weighted images and ADC maps were detected in 63.6% of patients with stage II and in all patients with stage III. There were significant differences between stage II and III patients and also between patients and control group in ADC values that obtained from all locations. The highest mean ADC values were calculated in stage III patients. Although MRI and DWI findings were normal in four patients with stage II disease, ADC values were significantly increased when compared with controls. Conclusion The stage of disorder may be independent of DWI appearance during the early stage (stages I and II), even though the brain is affected. Therefore, DWI and ADC values supplemental to routine MRI should also be utilized for lesion detection and definition to enhance diagnostic accuracy in patients with SSPE. J. Magn. Reson. Imaging 2006. © 2006 Wiley-Liss, Inc. [source] Comparison of closed loop vs. manual administration of propofol using the Bispectral index in cardiac surgeryACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 3 2009J. AGARWAL Background: In recent years, electroencephalographic indices of anaesthetic depth have facilitated automated anaesthesia delivery systems. Such closed-loop control of anaesthesia has been described in various surgical settings in ASA I,II patients (1,4), but not in open heart surgery characterized by haemodynamic instability and higher risk of intra-operative awareness. Therefore, a newly developed closed-loop anaesthesia delivery system (CLADS) to regulate propofol infusion by the Bispectral index (BIS) was compared with manual control during open heart surgery. Methods: Forty-four adult ASA II,III patients undergoing elective cardiac surgery under cardiopulmonary bypass were enrolled. The study participants were randomized to two groups: the CLADS group received propofol delivered by the CLADS, while in the manual group, propofol delivery was adjusted manually. The depth of anaesthesia was titrated to a target BIS of 50 in both the groups. Results: During induction, the CLADS group required lower doses of propofol (P<0.001), resulting in lesser overshoots of BIS (P<0.001) and mean arterial blood pressure (P=0.004). Subsequently, BIS was maintained within ± 10 of the target for a significantly longer time in the CLADS group (P=0.01). The parameters of performance assessment, median absolute performance error (P=0.01), wobble (P=0.04) and divergence (P<0.001), were all significantly better in the CLADS group. Haemodynamic stability was better in the CLADS group and the requirement of phenylephrine in the pre-cardiopulmonary bypass period as well as the cumulative dose of phenylephrine used were significantly higher in the manual group. Conclusion: The automated delivery of propofol using CLADS was safe, efficient and performed better than manual administration in open heart surgery. [source] Analysis of risk factors for recurrence and effective adjuvant therapy in patients with endometrial cancerJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 2 2002Tomoko Goto Objective: The aim of this study was to explore risk factors for recurrence and effective adjuvant therapy in endometrial cancer. Methods: Between 1985 and 1999, 170 patients with uterine endometrial cancer received initial therapy at the National Defense Medical College Hospital. We retrospectively analyzed risk factors including; histopathological features, operative procedures, adjuvant therapies and surgical staging. Results: Although the prognosis in stage I and II patients was fairly good, recurrences were observed in patients with stage Ib or worse. Vagina walls were the frequent site of recurrence. About a half of relapses which occurred within seven months after surgery were observed during adjuvant chemotherapy. Multivariate analysis revealed that myometrial invasion (P = 0.0231) was the only risk factor for recurrence. Although the prognosis in stage III and IV patients was generally poor, serosal invasion in stage III disease seemed to be an im-portant risk factor. With regard to adjuvant therapy in stage I,III patients who could receive optimal cytoreductive surgery; the risk of recurrence was significantly (P = 0.0127) lower in patients receiving radiation therapy than in those receiving chemotherapy including platinum agents. Conclusion: The data suggested that in stage I,III patients with optimal cytoreductive surgery, myometrial invasion is an independent risk factor for recurrence and radiation therapy is more effective than chemotherapy as adjuvant therapy. [source] Spinal 2-chloroprocaine: effective dose for ambulatory surgeryACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 5 2008A. SELL Background: There is an interest in finding a safe, short-acting spinal anaesthetic, suitable for ambulatory surgery. In this prospective study, we evaluated the effective dose of plain 2-chloroprocaine (2-CP) for lower limb surgery, including knee arthroscopy and saphenectomy. Methods: Sixty-four ASA physical status I,III patients undergoing elective lower limb surgery were randomly allocated to one of the four local anaesthetic groups for spinal anaesthesia in a double-blind manner. The patients (n=16 patients in each group) received 35, 40, 45 or 50 mg of 10 mg/ml isobaric 2-CP. Results: In all patients, anaesthesia was sufficient for the planned surgery. The median peak block height (T9) was similar in all four groups (P=0.66). Time to complete sensory block regression was faster in the 35 mg group (111 min, mean) and in the 40 mg group (108 min) than in the 50 mg group (134 min, P=0.005). No differences in time to complete motor block regression were observed (P=0.3). Home discharge time was faster in the 35 mg group (123 min) and in the 40 mg group (122 min) than in the 50 mg group (165 min, P=0.001). No complications related to spinal anaesthesia were observed and no transient neurologic symptoms (TNS) were reported at the 3-day follow-up. Conclusion: Spinal 2-CP, 10 mg/ml 35, 40, 45 and 50 mg provide reliable sensory and motor block for ambulatory surgery, while reducing the dose of 2-CP to 35 and 40 mg resulted in a spinal block of faster ambulation. [source] Meeting the 12 lymph node (LN) benchmark in colon cancer,JOURNAL OF SURGICAL ONCOLOGY, Issue 1 2010A. Rajput MD Abstract Background Examining ,12 LN in colon cancer has been suggested as a quality metric. The purpose of this study was to determine whether the 12 LN benchmark is achieved at NCCN centers compared to a US population-based sample. Methods Patients with stage I,III disease resected at NCCN centers were identified from a prospective database (n,=,718) and were compared to 12,845 stage I,III patients diagnosed in a SEER region. Age, gender, location, stage, number of positive nodes were compared for NCCN and SEER data in regards to number of nodes evaluated. Multivariate logistic regression models were developed to identify factors associated with evaluating 12 LNs. Results 92% of NCCN and 58% of SEER patients had ,12 LN evaluated. For patients treated at NCCN centers, factors associated with not meeting the 12 LN target were left-sided tumors, stage I disease and BMI >30. Conclusions ,12 LN are almost always evaluated in NCCN patients. In contrast, this target is achieved in 58% of SEER patients. With longer follow-up of the NCCN cohort we will be able to link this quality metric to patterns of recurrence and survival and thereby better understand whether increasing the number of nodes evaluated is a priority for cancer control. J. Surg. Oncol. 2010;102:3,9. © 2010 Wiley-Liss, Inc. [source] Single-dose dexmedetomidine attenuates airway and circulatory reflexes during extubationACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 8 2005G. Guler Background:, The alpha agonist dexmedetomidine, a sedative and analgesic, reduces heart rate and blood pressure dose-dependently. We investigated whether it also has the ability to attenuate airway and circulatory reflexes during emergence from anaesthesia. Methods:, Sixty ASA I,III patients received a standard anaesthetic. Five minutes before the end of surgery, they were randomly allocated to receive either dexmedetomidine 0.5 µg/kg (Group D) (n = 30) or saline placebo (Group P) (n = 30) intravenously (i.v.) over 60 s in a double-blind design. The blinded anaesthetist awoke all the patients, and the number of coughs per patient was continuously monitored for 15 min after extubation; coughing was evaluated on a 4-point scale. Any laryngospasm, bronchospasm or desaturation was recorded. Heart rate (HR) and systolic and diastolic blood pressure (SAP, DAP) were measured before, during and after tracheal extubation. The time from tracheal extubation and emergence from anaesthesia were recorded. Results:, Median coughing scores were 1 (1,3) in Group D and 2 (1,4) in Group P (P < 0.05), but there were no differences between the groups in the incidence of breath holding or desaturation. HR, SAP and DAP increased at extubation in both groups (P < 0.05), but the increase was less significant with dexmedetomidine. The time from tracheal extubation and emergence from anaesthesia were similar in both groups. Conclusion:, These findings suggest that a single-dose bolus injection of dexmedetomidine before tracheal extubation attenuates airway-circulatory reflexes during extubation. [source] Effects of high-dose propofol on succinylcholine-induced fasciculations and myalgiaACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 2 2003A. Kararmaz Background: The purpose of this prospective study was to determine the effects of high-dose propofol on the incidence of fasciculations and myalgia, and to evaluate changes in creatine kinase levels following the administration of succinylcholine in 90 women who underwent laparoscopy. Methods: Patients were randomly assigned to one of three groups. Induction of anesthesia was performed with thiopentone 5 mg kg,1 in Group I (n = 30), propofol 2 mg kg,1 in Group II (n = 30), and propofol 3.5 mg kg,1 in Group III (n = 30). Then succinylcholine 1 mg kg,1 was administered to the patients for intubation. Results: Fasciculation was absent in 20% of Group III patients, and no vigorous fasciculation occurred in this group. Furthermore, the severity of fasciculation in Group III was significantly lower than in the other two groups (P = 0.01). Seventy per cent of patients had no myalgia in Group III, 39.2% in Group II and 37% in Group I (P = 0.007). Severity of myalgia was also significantly lower in Group III compared with the other two groups (P = 0.011). Post-operative creatine kinase levels were significantly higher than their baseline values in Groups I and II (P < 0.0001). Conclusion: Administration of propofol 3.5 mg kg,1 is effective in reducing fasciculations and myalgia after succinylcholine. [source] Two different doses of caudal neostigmine co-administered with levobupivacaine produces analgesia in childrenPEDIATRIC ANESTHESIA, Issue 5 2009KAZIM KARAASLAN MD Summary Background:, This study was aimed to evaluate the analgesic efficacy, duration of analgesia, and side effects of two different doses of caudal neostigmine used with levobupivacaine in children. Methods:, Sixty boys, between 5 months and 5 years, undergoing genito-urinary surgery were allocated randomly to one of three groups (n = 20 each). Group I patients received caudal 0.25% levobupivacaine (1 ml·kg,1) alone. Groups II and III patients received neostigmine (2 and 4 ,g·kg,1 respectively) together with levobupivacaine used in the same dose as Group I. Pain scores were assessed using Children's and Infant's Postoperative Pain Scale (CHIPPS) at 15th (t1) min after arrival to postanesthetic care unit, and 1st (t2), 2nd (t3), 3rd (t4), 4th (t5), 8th (t6), 16th (t7), and 24th (t8) hour postoperatively. Duration of analgesia, amount of additional analgesic (paracetamol), score of motor blockade and complications were recorded for 24 h postoperatively, and compared between groups. Results:, CHIPPS scores were higher during t2, t3, t6, t7 and t8 periods, duration of analgesia was shorter, and total analgesic consumption was higher in Group I compare to neostigmine groups (P < 0.05). Duration of postoperative analgesia and total analgesic consumption were similar in Groups II and III (P > 0.05). Adverse effects were not different between three groups. Conclusions:, Caudal neostigmine in doses of 2 and 4 ,g·kg,1 with levobupivacaine extends the duration of analgesia without increasing the incidence of adverse effects, and 2 ,g·kg,1 seems to be the optimal dose, as higher dose has no further advantages. [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] 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] Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justifiedTHE JOURNAL OF PATHOLOGY, Issue 4 2005Robyn Lynne Ward Abstract This study prospectively examines the accuracy of immunohistochemical staining in the identification of mismatch repair defective (MMRD) colorectal cancer in routine clinical practice. The potential impact of this information on decisions regarding adjuvant treatment and germline testing were quantified. A consecutive series of fresh tissue (836 cancers) was obtained from 786 individuals undergoing curative surgery for colorectal cancer at one institution. As part of normal practice, each tumour was screened for the expression of MLH1 and MSH2 by immunohistochemical staining (IHC) and relevant clinicopathological details were documented. Microsatellite instability (MSI) was assessed using standard markers. Overall, 108 (13%) tumours showed loss of staining for either MLH1 (92 tumours) or MSH2 (16 tumours). The positive predictive value of mismatch repair IHC when used alone in the detection of MSI tumours was 88%, and the negative predictive value was 97%. Specificity and positive predictive value were improved by correlation with microsatellite status. Tumour stage (HR 3.5, 95% CI 2.0,6.0), vascular space invasion (HR 1.9, 95% CI 1.2,3.0) and mismatch repair deficiency (HR 0.2, 95% CI 0.05,0.87) were independent prognostic factors in stages II and III disease. Screening by mismatch repair IHC could reasonably have been expected to prevent ineffective treatment in 3.6% of stage II and 7.6% of stage III patients. The frequency of germline mismatch repair mutations was 0.8%, representing six unsuspected hereditary non-polyposis colorectal cancer (HNPCC) cases. Routine screening of colorectal cancers by mismatch repair IHC identifies individuals at low risk of relapse, and can prevent unnecessary adjuvant treatments in a significant number of individuals. Abnormal immunohistochemistry should be confirmed by microsatellite testing to ensure that false-positive results do not adversely impact on treatment decisions. Copyright © 2005 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. [source] Ultrasound vs nerve stimulation multiple injection technique for posterior popliteal sciatic nerve blockANAESTHESIA, Issue 6 2009G. Danelli Summary In this prospective, randomised, observer-blinded study we evaluated whether ultrasound guidance can shorten the onset time of popliteal sciatic nerve block as compared to nerve stimulation with a multiple injection technique. Forty-four ASA I,III patients undergoing posterior popliteal sciatic nerve block with 20 ml of 0.75% ropivacaine were randomly allocated to nerve stimulation or ultrasound guided nerve block. A blinded observer recorded onset of sensory and motor blocks, success rates, the need for fentanyl intra-operatively, the requirement for general anaesthesia, procedure-related pain, patient satisfaction and side-effects. Onset times for sensory and motor blocks were comparable. The success rate was 100% for ultrasound guided vs 82% for nerve stimulation (p = 0.116). Ultrasound guidance reduced needle redirections (p = 0.01), were associated with less procedural pain (p = 0.002) and required less time to perform (p = 0.002). Ultrasound guidance reduced the time needed for block performance and procedural pain. [source] Subcutaneous administration of nitroglycerin to facilitate radial artery cannulationCATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS, Issue 3 2006FSCAI, Samir B. Pancholy MD Abstract Objectives: To study the effect of sublingual versus subcutaneous nitroglycerin on radial artery spasm caused by failed access attempts. Background: Radial artery spasm is the leading reason for failed radial access. We studied the efficacy of systemic versus local nitroglycerin in relieving radial artery spasm caused by needle entry resulting in failed cannulation. Methods: Fifty-two consecutive patients were studied. All patients had failed attempt at radial artery cannulation, resulting in loss of radial pulse. Patients were divided in three groups, group I (n = 11), observed without additional treatment, group II (n = 20), administered 400 mcg of sublingual nitroglycerin, and group III (n = 21), administered 400 mcg of subcutaneous nitroglycerin at the site of the lost radial pulse. All patients were monitored for the return of radial pulse. Demographics, hemodynamics, and time to return of radial pulse as well as ability to successfully cannulate the radial artery were recorded. Results: Seventy-two percent of group I patients, 90% of group II patients, and 100% of group III patients had re-establishment of radial pulse. The time to return of radial pulse was significantly shorter for group III compared with that for group II (3 ± 1 min vs. 8 ± 1 min respectively, P < 0.001). Re-establishment of radial pulse was faster in group II and group III compared with that in group I (18 ± 5 min, P < 0.001). Systolic blood pressure changes and headaches were less common in group III. Conclusion: Subcutaneous administration of nitroglycerin is superior in facilitating radial artery cannulation after initial failed attempt. © 2006 Wiley-Liss, Inc. [source] Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III , identification of eight novel mutationsCLINICAL GENETICS, Issue 1 2009M Encarnação Mucolipidosis II (ML II) and mucolipidosis III (ML III) are diseases in which the activity of the uridine diphosphate (UDP)- N -acetylglucosamine:lysosomal enzyme N -acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent or reduced, respectively. In the absence of mannose phosphorylation, trafficking of lysosomal hydrolases to the lysosome is impaired. In these diseases, mistargeted lysosomal hydrolases are secreted into the blood, resulting in lysosomal deficiency of many hydrolases and a storage-disease phenotype. GlcNAc-phosphotransferase is a multimeric transmembrane enzyme composed of three subunits (,, , and ,) encoded by two genes ,GNPTAB and GNPTG. Defects in GNPTAB result in ML II and III whereas mutations in GNPTG were only found in ML III patients. We have performed a molecular analysis of the GNPTAB and GNPTG genes in 13 mucolipidosis II and III patients (10 Portuguese, one Finnish, one Spanish of Arab origin and one Indian). Mutations were identified by the study of both cDNA and gDNA. The GNPTAB and GNPTG mRNA expressions were determined by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR). The study led to the identification of 11 different mutations. Eight of these mutations are novel, six in the GNPTAB gene [c.121delG (V41FfsX42), c.440delC (A147AfsX5), c.2249_50insA (N750KfsX8), c.242G>T (W81L), c.1208T>C (I403T) and c.1999G>T (p.E667X)] and two in the GNPTG gene [c.610-1G>T and c.639delT (F213LfsX7)]. With regard to the mRNA expression studies, the values obtained by qRT-PCR indicate the possible existence of feedback regulation mechanisms between ,/, and the , subunits. [source] | ||||||||||||||||||||||||||||