scholarly journals Screening for MELAS mutations in young patients with stroke of undetermined origin

2007 ◽  
Vol 65 (2b) ◽  
pp. 371-376 ◽  
Author(s):  
Adriana Bastos Conforto ◽  
Fabio Iuji Yamamoto ◽  
Sueli Mieko Oba-Shinjo ◽  
Julio Guy C. Pinto ◽  
Maurício Hoshino ◽  
...  

PURPOSE: It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) mutations in young patients with cryptogenic strokes. METHOD: The mitochondrial mutations A3243G and T3271C were investigated in 38 subjects aged less than 46 years. Group 1: 15 patients with cryptogenic strokes; Group 2: 3 patients with diagnosis of MELAS syndrome, including stroke-like episodes; Group 3: 20 healthy subjects. RESULTS: The A3243G mutation was absent in all subjects in Groups 1 and 3 but was present in all subjects in Group 2. CONCLUSION: Our results do not support screening for these mutations to diagnose oligosymptomatic forms of MELAS in cryptogenic strokes in the absence of other features of the syndrome. We suggest that clinical findings should guide mitochondrial genetic testing.

2000 ◽  
Vol 93 (3) ◽  
pp. 662-669 ◽  
Author(s):  
Tomiei Kazama ◽  
Ken Takeuchi ◽  
Kazuyuki Ikeda ◽  
Takehiko Ikeda ◽  
Mutsuhito Kikura ◽  
...  

Background Suitable propofol plasma concentrations during gastroscopy have not been determined for suppressing somatic and hemodynamic responses in different age groups. Methods Propofol sedation at target plasma concentrations from 0.5 to 4.0 microgram/ml were performed randomly in three groups of patients (23 per group) who were undergoing elective outpatient gastroscopy: ages 17-49 yr (group 1), 50-69 yr (group 2), and 70-89 yr (group 3). Plasma propofol concentration in which 50% of patients do not respond to these different stimuli were determined by logistic regression: verbal command (Cp50ls), somatic response to gastroscopy (Cp50endo), and gag response to gastroscopy (Cp50gag). Hemodynamic responses were also investigated in the different age groups. Results Cp50ls concentrations were 2.23 microgram/ml (group 1), 1.75 microgram/ml (group 2), and 1.40 microgram/ml (group 3). The Cp50endo values in groups 1 and 2 were 2.87 and 2.34 microgram/ml, respectively, which were significantly higher than their respective Cp50ls values. Cp50endo value in group 3 was 1.64 microgram/ml, which was close to its Cp50ls value. Because of a high degree of interpatient variability, Cp50gag could not be defined. Systolic blood pressure response decreased with increasing propofol concentrations. Conclusions The authors determined the propofol concentration necessary for gastroscopy and showed that increasing age reduces it. Propofol concentration that suppresses somatic response induces loss of consciousness in almost all young patients.


1989 ◽  
Vol 35 (11) ◽  
pp. 2169-2172 ◽  
Author(s):  
K Kuroiwa ◽  
S Nakatsuyama ◽  
K Katayama ◽  
T Nagasawa

Abstract We have developed a colorimetric assay for quantifying alpha 2-macroglobulin-trypsin complex (alpha 2M-TRY) in human serum, based on use of a new chromogenic substrate D-gamma-tert-butyloxy-Glu-Gly-Arg-3-carboxy-4-hydroxyanilide dihydrochloride (PS-3001). Within-run CVs by this assay were 4.76%, 1.57%, and 0.83% for trypsin complex concentrations of 3.1, 12.2, and 48.1 U/L, respectively (n = 10 each). Between-day CVs were 5.38%, 3.12%, and 2.20% at each concentration, respectively (n = 7). Mean analytical recoveries of alpha 2M-TRY added to serum were 100%, 105%, and 101% for 9.2, 15.1, and 46.3 U/L, respectively (n = 2). The standard curve obtained was linear up to 330 U/L. We applied this method to the study of alpha 2M-TRY activity in sera from 97 healthy subjects (group 1), from 27 patients with acute pancreatitis (group 2), and from 25 patients with other chylopoietic diseases (group 3); results ranged from 0 to 1.2 U/L (mean = 0.5, SD = 0.3), from 1.2 to 77.4 U/L (mean = 14.6, SD = 19.0), and from 0 to 1.3 U/L (mean = 0.4, SD = 0.3), respectively. Concentrations of enzymatically active alpha 2M-TRY were significantly greater in sera from group 2 than in groups 1 and 3. The determination of serum alpha 2M-TRY activity by this simple, rapid, colorimetric method may be useful for the diagnosis and evaluation of pancreatic disease.


2019 ◽  
pp. 112067211988039 ◽  
Author(s):  
Simone Donati ◽  
Andrea Maria Maresca ◽  
Jennifer Cattaneo ◽  
Alessandra Grossi ◽  
Marco Mazzola ◽  
...  

Introduction: To evaluate retinal microvasculature modifications by means of optical coherence tomography angiography in human subjects diagnosed with arterial hypertension and to assess potential clinical relevance for early diagnosis. Methods: A cross-sectional study of 30 subjects affected by arterial hypertension compared to a matched cohort of healthy patients was conducted. Patients were evaluated by the Outpatient Clinic for Hypertension and the Retina Center, University of Insubria, Varese, Italy. Patients were divided into three groups: Group 1—healthy subjects, Group 2—patients first diagnosed with hypertension, and Group 3—patients with treated hypertension. Optical coherence tomography angiography was performed applying different analysis protocols for macula and optic disk, using an AngioVue OCTA System on an Optovue device. Morphological data were compared to and correlated with clinical vascular parameters, to evaluate preclinical microvascular damage. Results: A significant reduction in deep vascular layer density (Group 1: 59.2% ± 1.5% standard deviation; Group 2: 59.2% ± 2.2% standard deviation; Group 3: 57.8% ± 2.6% standard deviation; p < 0.05) as well as an enlargement of the deep foveal avascular zone area (Group 1: 0.34 ± 0.09 mm2; Group 2: 0.36 ± 0.07 mm2; Group 3: 0.39 ± 0.1 mm2; p < 0.05) was measured in patients with first diagnosed hypertension and in treated patients compared to healthy subjects. We also observed a significant decrease in mean foveal choroidal thickness in affected patients compared to controls (Group 1: 319.68 ± 61.72 µm standard deviation; Group 2: 251.04 ± 63.1 µm standard deviation; Group 3: 262.65 ± 51.08 µm standard deviation; p < 0.05). Our preliminary data did not show a significant correlation with microalbuminuria levels. Discussion: Retinal vascular density showed pathological modifications between healthy subjects and hypertensive patients. These preliminary findings suggest that optical coherence tomography angiography may identify pathological markers of an early hypertensive damage and help monitor disease progression with potential therapeutic advantages.


2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Jinbo Liu ◽  
Kuanting Wang ◽  
Huan Liu ◽  
Hongwei Zhao ◽  
Wei Huang ◽  
...  

Objectives. The present study was done to investigate the relationship between carotid-femoral pulse wave velocity (CFPWV) and biomarkers such as homocysteine (Hcy), N-terminal pro-brain natriuretic peptide (NT-proBNP), and urine albumin (microalbumin) (UAE) in vascular-related diseases. Methods. 656 subjects were enrolled into our study. There were 377 patients with hypertension, 231 with coronary heart disease, 154 with diabetes mellitus, and 186 healthy subjects. They were divided into four groups according to the number of suffered diseases: group 1 had only one of three diseases, group 2 had two, and group 3 had all of three diseases. CFPWV was measured by Complior apparatus. Results. CFPWV was significantly higher in group 3 than in the healthy group, group 1, and group 2 (12.71 ± 2.38 vs 10.11 ± 2.28, 10.70 ± 2.12, and 11.92 ± 2.55, all p<0.05). The level of Hcy was significantly higher in group1, group 2, and group 3 than in healthy subjects, respectively. Levels of Log NT-proBNP and Log UAE were significantly higher in group 3 than in group 1 (2.27 ± 0.4 vs 2.10 ± 0.4, 1.00 ± 0.65 vs 0.68 ± 0.56, both p<0.05). Positive correlation between CFWV and Hcy, Log UAE, and Log NT-proBNP was found in the entire study group (r = 0.109, 0.196, and 0.119, all p<0.05). Multivariate analysis showed that pulse pressure, age, fasting plasma glucose, diastolic blood pressure, body mass index, and Log UAE were independent associating factors of CFPWV in all subjects (β = 0.334, p<0.001; β = 0.333, p<0.001; β = 0.126, p=0.004; β = 0.137, p=0.003; β = −0.142, p=0.002; and β = 0.098, p=0.031). Conclusions. CFPWV was significantly higher in subjects with hypertension, CHD, and DM. There was correlation between CFPWV and biomarkers such as NT-proBNP, Hcy, and urine albumin (microalbumin).


Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 991-991 ◽  
Author(s):  
Fernando O. Pinto ◽  
Thierry Leblanc ◽  
Gwenaelle Le Roux ◽  
Jerome Larghero ◽  
Bruno Cassinat ◽  
...  

Abstract The Bone Marrow Failure (BMF) syndromes comprise a variety of distinct acquired or inherited clinical entities. Early distinction between syndromes has clear implications in the disease management and outcome. Fanconi anemia (FA), the most frequent cause of inherited BMF, is usually associated with congenital abnormalities, progressive cytopenia, chromosome fragility, and cancer susceptibility. However, due to a high clinical variability and/or the potential emergence of revertant hematopoietic cells (somatic mosaicism), identifying patients with FA or ruling out this diagnosis can be challenging. If undiagnosed, FA patients who initially present with bone marrow failure will die of toxicity after standard-dose conditioning regimens for HSCT. In this study, we evaluated FA diagnosis in patients with BMF but no clear initial evidence of FA, using of a combination of classical and innovative tests in blood and fibroblasts. A cohort of 82 patients with BMF and no strong clinical evidence of FA was analysed (patients with a clear FA diagnosis were not included). Based on the likelihood of an underlying inherited condition associated with the BMF, we classified patients in 3 groups: those likely to have idiopathic aplastic anemia (IAA) [n=38, group 1], those likely to have a constitutional condition other than FA [n=26, group 2], and those likely to have IAA but who had isolated clinical findings which could also be present in FA [n=18, group 3]. Chromosome breakage test and analysis of the FA/BRCA pathway by FANCD2 immunoblot were performed in PBL in all patients [n= 82]. To overcome potential somatic mosaicism, skin primary fibroblasts were analysed [n= 52]. Also, to rule out FA/BRCA downstream groups, we developed a new flow cytometry test based on MMC-sensitivity in fibroblasts. In total, 6 patients with FA were identified: 1/38 in group 1 (aplastic anemia at 10 yo, no positive clinical findings), 2/26 in group 2 (one with MDS at 48 yo with precocious menopause and vocal cord neoplasia at 38 yo; one with hypoplastic MDS at 50 yo), and 3/18 in group 3 (one with short stature and aplastic anemia at 37 yo; one with MDS and borderline physical abnormalities at 26 yo; and one with a single cafe-au-lait spot and aplastic anemia at 10 yo). Chromosomal breakage tests in PBL were sufficient to diagnose 4 of these FA patients (further classified as FA core using FANCD2 immunoblot). Additional fibroblast analyses were necessary to identify 2 more FA patients (both with complete somatic mosaicism) and, importantly, to definitely exclude FA diagnosis in other patients. In conclusion, underdiagnosing FA is rare if careful history and physical exam are done together with chromosome breakage test in PBL. However, in clinical situations where the suspicion of FA persists despite negative breakage tests, then fibroblasts should be tested. Because no cases of FA were found among patients with IAA and negative breakage tests in PBL, we suggest that FA screening can be limited to this technique in this population (group 1). The strategy here presented allowed us to identify a few unexpected FA cases in a cohort of BMF patients, and importantly, to definitely rule out FA in others, with clear clinical impact for patients who undergo HSCT.


2008 ◽  
Vol 49 (8) ◽  
pp. 883-888 ◽  
Author(s):  
M. Elmali ◽  
K. Soylu ◽  
O. Gulel ◽  
I. K. Bayrak ◽  
D. Koprulu ◽  
...  

Background: Myocardial bridging (MB) is a congenital anomaly in which a segment of coronary artery is surrounded by myocardium. Purpose: To investigate the correlation between muscle thickness over the tunneled coronary artery (depth) in MB and the presence of milking effect (ME) and systolic narrowing ratio in catheter angiography (CA). Material and Methods: The records of 36 patients who underwent a coronary computed tomography angiography (CTA) and following CA examination for suspicious ischemic coronary artery disease, between March 2005 and September 2007, were retrospectively evaluated. According to the depth of MB on CTA, patients were grouped into four groups: group 1, <1 mm; group 2, 1– <2 mm; group 3, 2– <4 mm; group 4, ≥4 mm. The presence of milking effect, systolic narrowing ratio, and atherosclerotic stenosis at CA were recorded. CTA and CA results were then compared to evaluate the correlation. Results: In total, ME was found in 15 arteries at CA (42%). There was no ME in group 1; it was present in 11% of group 2, 67% of group 3, and 100% of group 4. Starting from group 3, the percentage of likelihood of seeing the milking effect was 77%, and the percentage of systolic narrowing was between 30 and 70%. There was a significant correlation between depth of MB and systolic narrowing ( P<0.01), while no significant correlation between length of MB and systolic narrowing was found ( P=0.32). In seven of the 36 patients (group 1, 0; group 2, 1; group 3, 3; group 4, 3), clinical findings were related to pure MB. Conclusion: The depth of MB is positively related to coronary narrowing and clinical ischemic findings.


PEDIATRICS ◽  
1979 ◽  
Vol 63 (5) ◽  
pp. 741-746
Author(s):  
Michael A. Wall ◽  
Mary Ellen B. Wohl ◽  
Norman Jaffe ◽  
Denise J. Strieder

Methotrexate (MTX) has been implicated as a cause of interstitial pneumonitis and/or fibrosis, but the mechanism by which the drug causes these processes is not known. The purpose of this study was to determine whether patients receiving high-dose MTX developed a consistent decrease in pulmonary function, which would implicate a role for total dose of MTX received in the pathogenesis of the lung toxicity. Pulmonary function studies, including spirometry, plethysmography, and diffusing capacity at two levels of alveolar Po2, were performed in 38 adolescents treated for osteogenic sarcoma. The patients were divided into three groups including 12 patients (group 1) studied before and during therapy, 15 patients (group 2) studied during therapy, and 11 patients (group 3) studied after completion of treatment. While total dose received at the time of the study varied from 0 to 256 gm/sq m, pulmonary function showed no change, with one exception. A mild restrictive defect and decrease in diffusing capacity due to unilateral pleural and diaphragmatic disease, whose relationship to MTX therapy is uncertain, developed in one patient. MTX, when administered in high dose to young patients by the described protocol, causes no dose-related decrease in pulmonary function.


VASA ◽  
2020 ◽  
Vol 49 (4) ◽  
pp. 281-284
Author(s):  
Atıf Yolgosteren ◽  
Gencehan Kumtepe ◽  
Melda Payaslioglu ◽  
Cuneyt Ozakin

Summary. Background: Prosthetic vascular graft infection (PVGI) is a complication with high mortality. Cyanoacrylate (CA) is an adhesive which has been used in a number of surgical procedures. In this in-vivo study, we aimed to evaluate the relationship between PVGI and CA. Materials and methods: Thirty-two rats were equally divided into four groups. Pouch was formed on back of rats until deep fascia. In group 1, vascular graft with polyethyleneterephthalate (PET) was placed into pouch. In group 2, MRSA strain with a density of 1 ml 0.5 MacFarland was injected into pouch. In group 3, 1 cm 2 vascular graft with PET piece was placed into pouch and MRSA strain with a density of 1 ml 0.5 MacFarland was injected. In group 4, 1 cm 2 vascular graft with PET piece impregnated with N-butyl cyanoacrylate-based adhesive was placed and MRSA strain with a density of 1 ml 0.5 MacFarland was injected. All rats were scarified in 96th hour, culture samples were taken where intervention was performed and were evaluated microbiologically. Bacteria reproducing in each group were numerically evaluated based on colony-forming unit (CFU/ml) and compared by taking their average. Results: MRSA reproduction of 0 CFU/ml in group 1, of 1410 CFU/ml in group 2, of 180 200 CFU/ml in group 3 and of 625 300 CFU/ml in group 4 was present. A statistically significant difference was present between group 1 and group 4 (p < 0.01), between group 2 and group 4 (p < 0.01), between group 3 and group 4 (p < 0.05). In terms of reproduction, no statistically significant difference was found in group 1, group 2, group 3 in themselves. Conclusions: We observed that the rate of infection increased in the cyanoacyrylate group where cyanoacrylate was used. We think that surgeon should be more careful in using CA in vascular surgery.


1984 ◽  
Vol 52 (03) ◽  
pp. 253-255 ◽  
Author(s):  
C Isles ◽  
G D O Lowe ◽  
B M Rankin ◽  
C D Forbes ◽  
N Lucie ◽  
...  

SummaryWe have previously shown abnormalities of haemostasis suggestive of intravascular coagulation in patients with malignant hypertension, a condition associated with retinopathy and renal fibrin deposition. To determine whether such abnormalities are specific to malignant hypertension, we have measured several haemostatic and haemorheological variables in 18 patients with malignant hypertension (Group 1), 18 matched healthy controls (Group 2), and 18 patients with non-malignant hypertension (Group 3) matched for renal pathology, blood pressure and serum creatinine with Group 1. Both Groups 1 and 3 had increased mean levels of fibrinogen, factor VIIIc, beta-thrombo- globulin, plasma viscosity and blood viscosity (corrected for haematocrit); and decreased mean levels of haematocrit, antithrombin III and platelet count. Mean levels of fast antiplasmin and alpha2-macroglobulin were elevated in Group 1 but not in Group 3. We conclude that most blood abnormalities are not specific to malignant hypertension; are also present in patients with non-malignant hypertension who have similar levels of blood pressure and renal damage; and might result from renal damage as well as promoting further renal damage by enhancing fibrin deposition. However increased levels of fibrinolytic inhibitors in malignant hypertension merit further investigation in relation to removal of renal fibrin.


2020 ◽  
pp. 64-75
Author(s):  
E. Burleva ◽  
O. Smirnov ◽  
S. Tyurin

The purpose of the study was to conduct a comparative assessment of the course of the postoperative period after phlebectomy and thermal ablation in patients with varicose veins of the lower extremities in the system of the great saphenous vein (GSV) with class C2 of chronic venous insufficiency (CVI) — CEAP class C2. Materials and methods: 455 patients (455 limbs) with CEAP class C2. Group 1 (n = 154) received stripping + minimally invasive phlebectomy; Group 2 — endovenous laser ablation (EVLA) of GSV trunk + sclerotherapy of varicose veins; 3 group (n = 150) — radiofrequency ablation (RFA) of the GSV + sclerotherapy. All patients were united by a single tactical solution — the elimination of pathological vertical reflux in GSV. In each group, patients were with similar hemodynamic profile were selected (Group 1 = 63; Group 2 = 61; Group 3 = 61). The course of the postoperative period (from 2 days to 2 months) was compared for pain (visual analog scale — VAS), clinical symptoms of chronic venous insufficiency, degree of satisfaction (Darvall questionnaire), and duration of disability. Statistical processing was carried out using Excel programs for Windows XP, MedCalc® (version 11.4.2.0., Mariakerke, Belgium). Results: Postoperative pain is more pronounced (during day 1 for Group 1–4.0, Group 2–3.0, Group 3–2.0) and more prolonged (up to 4 days) after open surgeries (p < 0.05). The dynamics of the clinical symptoms of CVI (including varicose syndrome and use of compression therapy) could not be fully evaluated in connection with the ongoing sclerotherapy procedures for patients of Groups 2 and 3. Satisfaction of patients with aesthetic aspects was higher than expected in all groups. Reliable statistical differences proved decrease in days of disability (Group 1–14; Group 2–4; Group 3–3) and earlier return to physical activities and work in patients after thermal ablation in comparison with phlebectomy. Conclusion: The study shows that all three methods for eliminating vertical reflux in the GSV can be proposed for a large category of patients with CEAP of class C3 and C2. Medical and social rehabilitation of patients using endovascular thermal ablation technologies proceeds faster, which is beneficial both for the patients and for society.


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