RELATIONSHIP OF OXIDATIVE STRESS TO URINARY ANGIOTENSIN CONVERTING ENZYME 2 IN TYPE 2 DIABETES MELLITUS PATIENTS.

CONTEXT: Angiotensin converting enzyme 2 (ACE2) is highly expressed in the kidney and cleaves angiotensin II to Angiotensin (1-7), annihilating the deleterious effects of angiotensin II which is known to be a strong activator of oxidative stress. OBJECTIVE: We aimed to evaluate the relationship of oxidative stress to urinary ACE2 (uACE2) in type 2 diabetes mellitus (T2DM) patients. DESIGN: We included consecutive normo or microalbuminuric T2DM patients in an observational transversal study. Routine laboratory investigations, plasma malondialdehyde (MDA, fluorimetric thiobarbituric method) as a marker of prooxidant capacity and superoxide dismutase (SOD, cytochrome reduction method) and catalase (CAT) activity (in erythrocyte lysate by the modification of absorbance method) as two measures of serum antioxidant capacity and uACE2 (ELISA method) were assessed. RESULTS: MDA showed a negative correlation with SOD (r=-0.44, p=0.001), CAT (r=-0.37, p=0.006), uACE2 (r=-0.33, p=0.016) and a positive correlation with glycated haemoglobin (HbA1c) (r=0.49, p<0.001) and associated cardiovascular disease (r=0.42, p=0.001). CAT as also positively correlated to uACE2 (r=0.29, p=0.037). SOD was also negatively correlated with glycemia (r=-0.71, p<0.001) and HbA1c (r=-0.53, p<0.001). Patients with lower MDA (when divided according to median value of 3.88 nmol/mL) had higher uACE2 57.15(40.3-71.2) pg/mL compared to 38.5(31.8-45.95) pg/mL in patients with higher MDA (p<0.001). In multivariate logistic regression uACE2 was the only predictor for MDA above or below its median (OR=0.94, 95%CI[0.90-0.98], p=0.002). CONCLUSION: Increased prooxidant serum capacity is associated with lower uACE2 levels in T2DM patients.

Adiponectin predicts cardiovascular events in diabetes dialysis patients.

OBJECTIVES: Adiponectin is an insulin-sensitizing, anti-inflammatory adipokine with anti-atherogenic actions in the general population. In dialysis patients it is unclear whether adiponectin conserves its protective value or is, on the contrary, associated to worse prognosis. We assessed the predictive value of adiponectin for atherosclerosis related cardiovascular events in type 2 diabetic dialysis patients. DESIGN AND METHODS: Prevalent diabetic dialysis patients from three dialysis units (n=77) were enrolled in a 3years' prospective observational study. Serum adiponectin, clinical and laboratory parameters were determined at baseline; new occurrence of atherosclerosis related events (coronary events, atherosclerosis obliterans, and stroke) was recorded. RESULTS: Baseline adiponectin was 17.25(9.53-31.97) µg/mL and significantly correlated to HDL cholesterol (r=0.29, p=0.01), triglycerides (r=-0.40, p=0.0004), ferritin (r=-0.29, p=0.02), transferrin (r=-0.28, p=0.02), and uric acid (r=-0.24, p=0.04). In multivariate analysis association to triglycerides (p=0.001), HDL cholesterol (p=0.01) and ferritin (p=0.04) remained significant. 36 new fatal and non-fatal new cardiovascular events occurred, 29 patient died. Cox proportional regression analysis showed that adiponectin below or above a ROC-derived cut-off of 27.33µg/mL significantly influenced event-free survival: hazard ratio (HR) 2.48, 95% confidence interval (CI) (1.09-5.66), p=0.031 along with fasting glucose HR 1.01, 95%CI(1.00-1.02), p=0.01 and history of cardiovascular events at inclusion HR 3.16, 95%CI(1.36-7.32), p=0.007. In multivariate analysis baseline adiponectin HR 5.02, 95%CI(0.98-25.06), p=0.05 and glycemia HR 1.01, 95%CI(1.00-1.02), p=0.01 influenced event-free survival. Adiponectin also predicted cardiovascular events in patients without cardiovascular disease at inclusion but was not associated to overall mortality. CONCLUSIONS: In diabetes dialysis patients low adiponectin favors occurrence of atherosclerosis related cardiovascular events.

Chronic fatigue syndrome and fibromyalgia in Canada: prevalence and associations with six health status indicators.

INTRODUCTION: Few studies have considered the factors independently associated with chronic fatigue syndrome (CFS) and/or fibromyalgia (FM) or considered the impact of these conditions on health status using population-based data. METHODS: We used data from the nationally representative 2010 Canadian Community Health Survey (n = 59 101) to describe self-reported health professional-diagnosed CFS and/or FM, and their associations with 6 health status indicators. RESULTS: In 2010, diagnosed CFS and FM are reported by 1.4% (95% confidence interval [CI]: 1.3%-1.6%) and 1.5% (1.4%-1.7%), respectively, of the Canadian household population aged 12 years and over, with comorbid CFS and FM affecting 0.3% (0.3%-0.4%) of that population. Prevalent CFS and/or FM were more common among women, adults aged 40 years and over, those with lowest income, and those with certain risk factors for chronic disease (i.e. obesity, physical inactivity and smoking). After controlling for differences between the groups, people with CFS and/or FM reported poorer health status than those with neither condition on 5 indicators of health status, but not on the measure of fair/poor mental health. Having both CFS and FM and having multiple comorbid conditions was associated with poorer health status. CONCLUSION: Co-occurrence of CFS and FM and having other chronic conditions were strongly related to poorer health status and accounted for much of the differences in health status. Understanding factors contributing to improved quality of life in people with CFS and/or FM, particularly in those with both conditions and other comorbidities, may be an important area for future research.

TITRE: Le syndrome de fatigue chronique et la fibromyalgie au Canada : prévalence et associations avec six indicateurs de l'état de santé. INTRODUCTION: Peu d'études ont traité, à l'aide de données populationnelles, des facteurs associés de façon indépendante au syndrome de fatigue chronique (SFC) et à la fibromyalgie (FM) ou des répercussions de ces affections sur l'état de santé. MÉTHODOLOGIE: Nous avons utilisé les données de l'Enquête sur la santé dans les collectivités canadiennes de 2010 (n = 59 101), représentative de la population à l'échelle nationale, pour décrire les cas autodéclarés de SFC et de FM diagnostiqués par un professionnel de la santé et pour déterminer les associations de ces affections avec six indicateurs de l'état de santé. RÉSULTATS: En 2010, 1,4 % (intervalle de confiance [IC] à 95 % : 1,3 % à 1,6 %) des Canadiens de 12 ans ou plus vivant à domicile ont déclaré avoir reçu un diagnostic de SFC, 1,5 % (IC à 95 %: 1,4 % à 1,7 %) de FM, et 0,3 % (IC à 95 %: 0,3 % à 0,4 %) a déclaré être atteinte à la fois de SFC et de FM. Les cas de SFC comme ceux de FM étaient plus fréquents chez les femmes, les adultes de 40 ans ou plus, les personnes à faible revenu et les personnes présentant certains facteurs de risque de maladie chronique (obésité, sédentarité et tabagisme). Après ajustement en fonction des différences existant entre les groupes, les personnes ayant déclaré être atteintes du SFC ou de FM ou des deux avaient un moins bon état de santé que les personnes atteintes d'aucune de ces affections pour cinq indicateurs de l'état de santé, mais aucune différence n'a été trouvée entre ces groupes par rapport à l'indicateur de santé mentale. Le fait d'être atteint à la fois du SFC et de FM et de présenter de multiples affections comorbides était associé à un moins bon état de santé. CONCLUSION: La présence concomitante du SFC, de la FM et d'autres affections chroniques était étroitement associée au fait d'avoir un moins bon état de santé, et les différences relatives à l'état de santé étaient dues en bonne partie à la présence concomitante de ces affections. La compréhension des facteurs qui contribuent à l'amélioration de la qualité de vie des personnes atteintes du SFC ou de FM, et en particulier des personnes qui présentent ces deux affections ainsi que diverses affections comorbides, serait un champ important à explorer dans le cadre de travaux de recherche ultérieurs.

Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.

We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient's clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies.

Ring autosomes: some unexpected findings.

Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences. Our study reflects the experience of three Romanian cytogenetic laboratories in the field of ring chromosomes. We present six cases with ring chromosomes involving chromosomes 5, 13, 18, and 21. All ring chromosomes were identified after birth in children with plurimalformative syndromes. The ring chromosome was present in mosaic form in three cases, and this feature reflects the ring's instability. In case of ring chromosome 5, we report a possible association with oculo-auriculo-vertebral spectrum.

Low plasma adiponectin levels predict increased urinary albumin/creatinine ratio in type 2 diabetes patients.

BACKGROUND: Experimental studies have shown that adiponectin has antiproteinuric and nephroprotective effects. The purpose of the study was to assess the value of plasma adiponectin as a predictor of proteinuria in type 2 diabetes (T2D) patients. METHODS: In this one-year prospective follow-up study, we included T2D patients with positive visual test for microalbuminuria (Micral) and negative visual test for proteinuria. Exclusion criteria were: glomerular filtration ratio (GFR) < 30 ml/min, acute infection/inflammation, uncontrolled hypertension, and atherosclerotic complications. The main outcome measure was the change in urinary albumin/creatinine ratio (UACR) after 1 year follow-up (Δ UACR). RESULTS: Fifty-six patients (66% males) completed the study. Their initial mean UACR was 81.58 ± 26.42 mg/g and mean GFR was 81.15 ± 3.96 ml/min. At baseline, simple regression disclosed significant correlations between UACR and plasma adiponectin (r = 0.54, P = 0.00002) and GFR (r = -0.28, P = 0.03); in multiple regression analysis, plasma adiponectin remained the only predictor of UACR (P = 0.00007). Baseline plasma adiponectin was significantly correlated to body mass index (r = -0.28, P = 0.04), waist circumference (r = -0.27, P = 0.05), HDL cholesterol (r = 0.35, P = 0.01), and LDL cholesterol (r = 0.27, P = 0.04). Baseline plasma adiponectin significantly correlated in simple (r = -0.38, P = 0.004) and multiple regression (P = 0.04) to Δ UACR. When patients were divided according to Δ UACR in nonprogressors (Δ UACR < 0) and progressors (Δ UACR > 0), logistic regression showed that baseline GFR (OR = 1.04, CI95%: 1.00-1.09, P = 0.04) and plasma adiponectin (OR = 1.16, CI95%: 1.02-1.32, P = 0.02) were the only factors that predicted whether the patient would be a progressor or not. CONCLUSION: In T2D patients, lower plasma adiponectin levels seem to be predictive of increased UACR.

Self-management strategies in overweight and obese Canadians with arthritis.

OBJECTIVE: To estimate the prevalence of overweight and obese Canadians with arthritis and to describe their use of arthritis self-management strategies, as well as explore the factors associated with not engaging in any self-management strategies. METHODS: Respondents to the 2009 Survey on Living with Chronic Diseases in Canada, a nationally representative sample of 4,565 Canadians age ≥20 years reporting health professional-diagnosed arthritis (including more than 100 rheumatic diseases and conditions), were asked about the impact of their arthritis and how it was managed. Among the overweight (body mass index [BMI] 25-29.9 kg/m(2)) and obese (BMI ≥30 kg/m(2)) individuals with arthritis (n = 2,869), the use of arthritis self-management strategies (i.e., exercise, weight control/loss, classes, and community-based programs) were analyzed. Log binomial regression analyses were used to examine factors associated with engaging in none versus any (≥1) of the 4 strategies. RESULTS: More than one-quarter (27.4%) of Canadians with arthritis were obese and an additional 39.9% were overweight. The overweight and obese individuals with arthritis were mostly female (59.5%), age ≥45 years (89.7%), and reported postsecondary education (69.0%). While most reported engagement in at least 1 self-management strategy (84.9%), less than half (45.6%) engaged in both weight control/loss and exercise. Factors independently associated with not engaging in any self-management strategies included lower education, not taking medications for arthritis, and no clinical recommendations from a health professional. CONCLUSION: Fewer than half of the overweight and obese Canadians with arthritis engaged in both weight control/loss and exercise. The provision of targeted clinical recommendations (particularly low in individuals that did not engage in any self-management strategies) may help to facilitate participation.

Laryngotracheal non-Hodgkin's lymphoma.

OBJECTIVES: Malignant lymphomas of larynx and trachea are rare tumors and require special diagnostic and therapeutic attention. The authors present an unexpected case of nonHodgkin Lymphoma localized in the subglottic larynx and upper cervical trachea. The clinical presentation, diagnostic and therapeutic approach, evolution and prognosis are discussed. METHOD: We report a case of 25-year-old male patient, with progressive dyspnea, presented in our ENT Department with severe airway obstruction caused by a large subglottic tumoral mass migrated in the glottic space during an accidental fall. An emergency tracheotomy was performed. The flexible endoscopy and CT-scan revealed a large mass arising from the subglottic larynx and anterior wall of upper cervical trachea with the obstruction of 2/3 of the laryngotracheal lumen. RESULTS: After a complex assessment, the tumor was excised by external approach (median thyrotomy). The histopathologic exam of the surgical specimen showed malignant nonHodgkin lymphoma and the immunohistochemical profiles were evaluated in order to establish the therapeutic strategy including chemotherapy in the Department of Oncology. CONCLUSIONS: Invasion of the subglottic larynx and trachea by lymphoma is an uncommon problem which can cause severe airway obstruction and requires multidisciplinary approach (ENT, pneumology, oncology/hematology). The clinicopathological features of this case have been described and compared with previously reported cases.

Giant iliac artery aneurysm--a rare cause of hydronephrosis.

The presence of arterial aneurysm--an abnormal dilatation of an arterial segment due to various causes--might lead to compression effects and to various symptoms. Finding an etiology for unilateral hydronephrosis represents in some cases a real challenge for the clinician and targeted investigations must be ordered for the diagnostic approach. The abdominal ultrasound examination is one of the first imaging modalities but the abdominal computed tomography is helpful for definitive conclusions. We present a rare case of unilateral hydronephrosis due to a giant left iliac artery aneurysm in a 77-year-old male with history of peripheral artery disease.

A rare case of pulmonary emphysema.

Alpha-1-antitrypsin deficiency (AAT) is one of the three most common lethal genetic diseases in the caucasian population (together with cystic fibrosis and Down syndrome). Its primary manifestation is early-onset panacinar emphysema. Slowly progressive dyspnea is the primary symptom, although some patients initially have symptoms of cough, sputum production, or wheezing. A minority of patients develops hepatic cirrhosis. We present a case of a 40 year-old male, light smoker, with chronic obstructive lung disease with predominance of panacinar emphysema, with AAT deficiency (72 mg/dl; normal values = 200-300 mg/dl) complicated with cor pulmonale and chronic respiratory failure. The main clinical consequence of AAT deficiency is the early onset of panacinar emphysema, typically more severe at the lung bases. Smoking plays an important part in the natural history of the disease, both increasing the severity and decreasing the age at onset of emphysema.

Effective charges in the fp shell.

Following the heavy-ion fusion-evaporation reaction 32S+24Mg at 95 MeV beam energy the lifetimes of analogue states in the T(z)=+/-1/2 A=51 mirror nuclei 51Fe and 51Mn have been measured using the Cologne plunger device coupled to the GASP gamma-ray spectrometer. The deduced B(E2;27/2(-)-->23/2(-)) values afford a unique opportunity to probe isoscalar and isovector polarization charges and to derive effective proton and neutron charges, epsilon(p) and epsilon(n), in the fp shell. A comparison between the experimental results and several different large-scale shell-model calculations yields epsilon(p) approximately 1.15e and epsilon(n) approximately 0.80e.

Relationship between serum gamma-glutamyl transferase and pulse pressure in apparently healthy middle-aged subjects.

UNLABELLED: Higher values of pulse pressure (PP)--the difference between systolic blood pressure (SBP) and diastolic blood pressure (DBP)--are associated with an increased cardiovascular risk; SBP and DBP values are correlated with serum levels of gamma-glutamyl transferase (GGT), both in drinkers and non-drinkers subjects. Moreover, some studies showed that high levels of serum GGT might be related with an increased cardiovascular risk. However, few studies analyzed the relationship between GGT and PP. In 72 subjects (18 male; 54 women), middle-aged (mean age: 36.63 yrs; limits: 24-54 yrs), apparently healthy, we performed the measurements of: weight, height (from which we calculated the body mass index [BMI]), SBP, DBP, PP, standard biochemical workup, including GGT (UI/l). RESULTS: PP values are correlated with SBP (r=0.74, p<0.001), but not with DBP (r=0.15, p=NS) values. GGT is significantly correlated with SBP (r=0.28, p=0.01), DBP (r=0.29, p=0.01), and BMI (r=0.41, p<0.001). Mean values of PP are significantly higher in those with a GGT>20 than those with GGT<20 (48.69 vs. 43.85 mmHg, p<0.05); similarly, mean values of SBP (131.66 vs. 116.81 mmHg, p=0.0004) and DBP (82.59 vs. 73.52 mmHg, p=0.0008) are higher in the group with GGT>20. We observed an ascending trend of the mean value of GGT in the different groups of PP; therefore, mean value of GGT was 19.21, 22.65, 23.18 in the PP<40, PP=40-60, respectively PP>60 groups. However, the correlation between PP and GGT was not significant, both in univariate analysis (r=0.14, p=NS) and after adjusting for SBP, DBP, BMI (r=0.12, p=NS). When we analyzed subgroups, the relationship between GGT and PP was more evident in women and in subjects with increased values of BMI. CONCLUSIONS: GGT values are significantly correlated with SBP and DBP, but not with PP, in middle-aged, apparently healthy subjects; even though the highest values of GGT are associated with an increased PP value, further studies would be necessary in order to explain this link.

Pulse pressure and inflammatory markers in apparently healthy premenopausal women.

Several epidemiological studies showed that pulse pressure (PP), as a marker of large arterial stiffness, is an independent predictor of cardiovascular risk. A high pulse pressure may induce lesions of the vessel walls and of the endothelium of the large arteries. Now, inflammation represents one of the most extensively studied pathways involved in the pathogenesis of cardiovascular disease. The aim of the present study was to evaluate if usual markers of systemic inflammation were correlated with pulse pressure. In fifty-four apparently healthy premenopausal women, without any known disease, we performed anthropometrical and blood chemistry measurements, together with the standard measurements of blood pressure. Mean values of fibrinogen are significantly more elevated in PP > 50 mmHg group than in PP < 50 mmHg group (364.79 +/- 71.07 vs. 329.31 +/- 57.81, P < 0.05). Fibrinogen was also significantly correlated with PP (r = 0.27, P < 0.05). However, after controlling for age the correlation between PP and fibrinogen was not significant (r = 0.18, P = NS). ESR was significantly correlated with PP (r = 0.31, P < 0.05) and systolic blood pressure (SBP) (r = 0.32, P < 0.05) but not with diastolic blood pressure (DBP). After controlling for age the correlation between PP and erythrocyte sedimentation rate (ESR) was not significant (r = 0.20, P = NS), but after controlling for body mass index (BMI) this correlation became significant (r = 0.28, P < 0.05). White blood cell (WBC) was not correlated with age, SBP, DBP, PP, age and BMI and the mean values of WBC were increased in the PP > 50 mmHg group, but not significantly (6637.93 +/- 1615.19 vs. 6416.67 +/- 1427.57, P = NS). In our study we found that ERS and fibrinogen values are related to pulse pressure values. Otherwise, blood pressure values, including pulse pressure, were correlated with the age of the subjects and the correlation between pulse pressure and inflammatory markers (ESR and fibrinogen) was not significant after controlling for age. After controlling for BMI, the correlation between ESR and PP remains significant.

[Ocular signs in Rubinstein-Taybi's syndrome]. / Semne oculare în sindromul Rubinstein-Taybi.

Rubinstein-Taybi syndrome, known also as "Broad Thumb-Hallux syndrome", was first recognized by Rubinstein and Taybi in 1963 and is characterized by somatic and ophthalmologic signs. Most commonly somatic changes are: broad thumbs and hallux, craniofacial dysmorphism, growth and psychomotor retardation. Most frequently reported eye anomalies are: antimongoloid slant of the palpebral fissures, strabismus, congenital obstruction of the lacrimal excretory system, colobomas of the iris and of the optic nerve head, ametropia.

[Association between phakomatosis and neoplasia in children pathology. IV Pediatric Clinic experience]. / Asocierea între facomatoze neurocristopatice si neoplazii în patologia copilului. Experienta clinicii pediatrie IV.

The risk to developing a neoplasm is increased when associated to a patient phakomatosis (Recklinghausen neurofibromatosis, Bourneville's tuberous sclerosis). We analysed 6 cases with phakomatosis and tumours, admitted in the Department of Oncopediatry, between 1993-1998; five of these children had neurofibromatosis and one Bourneville's disease. The associated tumours were hematologic malignancies (juvenile myeloid chronic leukemia) and solid tumors (rhabdomyosarcoma, hepatic carcinoma, CNS tumour, NHL optic glioma). The diagnosis was confirmed by microscopic examination of the bioptic material in all cases. Tumoral staging was performed by clinics, biology and imagistic investigations. All cases had extensive and aggressive tumours at the moment of diagnosis, We noticed a poor response and an early relapse after chemotherapy. A special follow-up and a different management has to be established for the patients with phakomatosis, in order to have a good oncological prophylaxis.

Nonparasitic abdominal serous cysts. A multiple case report.

A group of 35 patients with nonparasitic abdominal serous cysts is reviewed in order to investigate the diagnostic and therapeutic features of these rare conditions. In most cases the cysts were localised in the liver. Other localisations were the kidney (9 cases), the mesenteric area (2 cases), the adrenals (2 cases), the spleen and the pancreas (one case each). The clinical symptoms were essentially determinated by the size of the cysts, regardless their visceral localisation. Ultrasonography was the most efficient procedure for their detection, although this method's precision for the visceral localisation of the cysts was not entirely reliable (6 errors). The low incidence of such abnormalities as well as the absence of any relevant diagnostic elements for establishing the nonparasitic character of the cysts, favoured the confusions with nonproliferous hydatid cysts, especially in cases of solitary cysts (7 patients). The most frequently used surgical procedures were partial cystectomy (18 cases) and total cystectomy (8 cases). A personal technique based on obliteration of the cavity with the bulging wall of the cysts, was used in two patients. When choosing the surgical procedure, the size, site and number of cysts were considered. Immediate and late postoperative results were very good.

Circulating immune complexes in chronic hepatitis as related to the presence of HBsAg.

The relationship between the presence of circulating immune complexes (CIC) and of HBsAg in the serum of patients with chronic liver diseases was studied in a group of 78 patients of whom: 16 with chronic persistent hepatitis (CPH), 39 with chronic active hepatitis (CAH) and 23 with liver cirrhosis (LC). The results showed a clear relationship between the incidence of CIC and the presence of HBsAg in the patients with persistent or active chronic hepatitis but not in those with liver cirrhosis. The presence of HBsAg was detected in the composition of CIC in only part of the cases (10/25 patients). This low incidence suggests that in chronic hepatitis other antigens can also participate in the formation of CIC.