Impairment In Young Patients Research Articles

Asthenia and vascular cognitive impairment in young patients after stroke

Post-stroke cognitive impairment (PSCI) is found in most patients over 50 years of age. At a young age, PSCI has a negative impact on daily activities, quality of life and return to work, regardless of physical recovery. Often PSCI are combined with asthenia, but there is very little information on the prevalence of post-stroke asthenia (PSA). Currently, the treatment of PSCI and PSA in young patients with citicoline is still controversial.Objective: to evaluate the prevalence of PSCI and PSA in young patients and the efficacy and safety of the domestic drug Noocil (citicoline) in the treatment of PSCI and PSA in stroke patients of young age.Material and methods. The work was conducted in two stages: the first stage was a longitudinal study of cognitive status using neurocognitive scales and assessment of signs of asthenia in patients aged 18 to 45 years; the second stage was an open prospective observational study of 47 patients aged 18 to 45 years with confirmed ischemic stroke (IS) who were randomly assigned to groups with Noocil administration (main group; n=26) or without treatment (control group; n=21). Cognitive function was assessed by Montreal Cognitive Assessment (MoCA) and asthenia by manifestations of general fatigue (Multidimensional Fatigue Inventory, MFI-20).Results. High frequency of PSCI (51%) and the severity of asthenia according to MFI-20 scale were found in the hospital sample of young patients with IS. A direct correlation was found between the severity of PSA and the degree of cognitive decline. The positive effect of Noozil on cognitive functions, emotional state and severity of asthenia in the study group was noted. At the end of treatment, the mean MoCA score was 27.4±1.4 in the main group and 25.9±1.1 in the control group (p<0.01), and the mean MFI-20 score was 37.4±7.4 in the main group and 43.7±5.1 in the control group (p<0.01).Conclusion. The high incidence of PSCI and PSA and the positive effect of Noocil on the non-motor consequences of stroke in young patients and the high safety profile of the drug were shown.

Evaluation of Cognitive Functions in Patients with Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention: A Prospective Pilot Study.

It is not clear whether cognitive functions are impaired in young patients with acute coronary syndrome (ACS). This study aims to detect whether or not there is cognitive impairment and cerebral changes in young patients with ACS undergoing percutaneous coronary intervention (PCI). All 50 patients with ACS who were treated with primary PCI were eligible for this prospective study. All participants had normal cognitive function before ACS. Brain magnetic resonance imaging (MRI) was performed to quantify changes in brain white and gray matter. Cognitive functions (CFs) were evaluated by seven cognitive tests. Patients were categorized by MRI findings and test scores were compared from the first day to after the first month. We determined 25 patients with impaired CFs on the first day. After the first month, we identified 18 patients with transient impaired CFs. No structural difference was observed between impaired CF and normal CF. While 25 patients had a score of 1 according to Fazekas, 10 patients had a score of 1 according to MTLA. While the mean Stroop test completion time and Stroop test error rate scores were significantly higher on the first day than after the first month in the Fazekas+ group (p = 0.003, p < 0.001, respectively), other cognitive test scores-except clock drawing test, digital span forwards, and backwards-were significantly lower on the first day compared to after the first month in the Fazekas+ group (p < 0.05). Patients with ACS have transient impairment in cognitive functions. Acute coronary syndrome is not associated with structural changes in the brain.

Post-stroke cognitive impairment in young patients

To evaluate the effect of Cortexin treatment on cognitive function and quality of life for young patients after ischemic stroke. The open prospective observational study included 30 patients from 18 to 45 years old with confirmed ischemic stroke in the carotid blood supply who received a course of treatment with Cortexin. Before and after therapy, all patients in the study group underwent examination to assess their neuropsychological status (MoCA test), The Short Form-36 (SF-36) questionnaire was used to assess quality of life. The study results were processed using statistical analysis. Based on the results of neurocognitive tests, changes in indicators of neurodynamic, visual-spatial and mnestic functions were determined. Thus, in the beginning of the study the MoCA test scores were 25.1±1.4 points. Over time, there was an improvement mainly in the areas of attention, short-term memory, and multiple aspects of executive functions. However, statistical significance for MoCA was achieved by the end of the second course of treatment with Cortexin (visit 4) - 28.4±1.3 points. Delayed neuropsychological testing showed encouraging results - the achieved level of cognitive functioning was maintained (28.0±1.1). According to SF-36 questionnaire at the stage of inclusion in the observation, low results were noted, which indicated the negative impact of the underlying disease on the daily life of the patient who had suffered a stroke. Low quality of life scores persisted until the third visit; a significant improvement in SF-36 results was recorded at visit 4 and persisted with a positive trend at the fifth visit. Cortexin therapy has been shown to be effective, safe and well tolerated in young people with cognitive deficits in the poststroke period.

Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population

BackgroundFabry disease (FD) is a rare X-linked lysosomal disorder caused by pathogenic variants in the alpha-galactosidase-A gene (GLA). Life threatening complications in adulthood include chronic kidney failure, strokes and the cardiac involvement which is the leading cause of mortality. Usually, it presents with hypertrophic cardiomyopathy, together with arrhythmia and conduction abnormalities. An early indicator is decreased T1 value on cardiac magnetic resonance (CMR). Enzyme replacement therapy (ERT) is effective on some extra-cardiac symptoms but its effect on cardiac lesions depends on the level of initial myocardial lesions. CMR is routinely used to monitor cardiac involvement in FD due to its capacity for tissular characterization. However, there is a lack of data on the pediatric population to understand how to integrate CMR into early therapeutic decisions. MethodMonocentric longitudinal study carried out at Montpellier University Hospital from 2016 to 2022. All pediatric patients with FD were evaluated over time with clinical, biological, and cardiac imaging (CMR, echocardiography). ResultsOut of the six patients included, (3 males), five were treated with ERT during the study. Low T1 values were observed in 4 patients. The normalization of T1 values was observed after 4 years of ERT in 3 patients. ConclusionDue to the lack of strong clinical and biological markers of FD in pediatric patients, initiation and follow-up of ERT efficacy remain challenging. CMR with T1-mapping, a noninvasive method, could play a role in the evaluation of early cardiac impairment in young patients at diagnosis and during follow-up with or without ERT.

Literature review on the cross-link between ocular and renal disease: renin angiotensin aldosterone system is a main actor.

Chronic kidney disease (CKD) and ocular disease share several cardiovascular risk factors as well as pathogenetic mechanisms having Renin-Angiotensin-Aldosterone System (RAAS) as main actor. Moreover, kidney and eyes have common genetic and embryonic origin. In this literature review, we present main evidence supporting this association for early identifying diseases affecting both systems and evaluating potential multi-target therapeutic strategies. We performed a literature review of the current peer-reviewed English-language randomized controlled studies (RCTs), reference lists of nephrology or ophthalmology textbooks, review articles and relevant studies with ocular or eye and kidney or renal diseases as keywords until March 2020. Prospective and retrospective studies as well as meta-analyses and latest systematic reviews were included. We evaluated a total of 683 records, finally selecting 119 articles related to ocular and renal diseases. Records were divided into two areas: chronic and acute kidney disease and ocular or eye diseases. Some of the examined studies were discarded for population biases/intervention or deemed unfit. Based on our results, we conclude that there is evidence of a clear association between kidney and eye diseases, being this cross-link mainly based on RAAS dysregulation. Our review suggests that it may be useful to screen CKD patients for associated ocular diseases, such as cataract, glaucoma, diabetic retinopathy and age-related macular degeneration. A comprehensive study of CKD and proteinuric patients should include careful eye examination. Renal impairment in young patients should prompt a search for ocular disease, such as TUNA syndrome or oculo-renal syndrome, in particular if family history of concurrent ocular and renal disease is present. Anti-RAAS agents are mostly recommended in patients with renal and ocular impairment.

Nitrous oxide-related neurological disorders: Clinical, laboratory, neuroimaging, and electrophysiological findings.

BackgroundRecreational N2O abuse is an important etiology of neurological impairment in young patients, which may easily be ignored clinically. Few current studies have investigated the characteristics or the effects experienced by its users. We aimed to explore any correlation between the clinical severity and biomarkers and spinal magnetic resonance imaging (MRI) abnormalities, identify independent factors associated with spinal MRI abnormalities, and ascertain factors affecting depression/anxiety in patients with N2O‐related neurological disorders.MethodsPatients with N2O‐related neurological disorders were enrolled retrospectively between February 2017 and July 2020. Their demographic, clinical, laboratory, neuroimaging, electrophysiological, and neuropsychological findings were analyzed. Correlation analyses were conducted using Spearman's or Pearson's correlation and linear regression analysis. Independent factors associated with spinal MRI abnormalities were identified using univariate and multivariate analyses.ResultsThe principal clinical manifestations of N2O‐related neurological disorders (n = 63; 38 men, 25 women; mean age ± SD: 22.60 ± 4.46 years) were sensory disturbance, followed by gait disturbance and pyramidal tract damage. A significant negative correlation existed between serum vitamin B12 levels and clinical severity (r = −0.309, p = .014), which disappeared after linear regression. An interval of less than 6 months between initial N2O abuse and hospitalization was independently associated with spinal MRI abnormalities (39.47% vs. 72.00%, respectively; χ 2 = 6.40, p = .01). Thirty‐eight (60.32%) and 40 (63.49%) patients experienced anxiety and depression, respectively. Moreover, the higher the clinical scores/serum homocysteine levels, the greater the severity of anxiety/depression (r = 0.442, p < .01; r = 0.346, p < .01; r = 0.477, p < .01; r = 0.324, p < .01).ConclusionsThe significant inverse correlation between initial vitamin B12 levels and clinical severity could aid prognosis prediction in patients with N2O‐related neurological disorders. Spinal MRI abnormalities were not related to clinical severity but depended on the time interval between initial N2O abuse and hospitalization. Anxiety and depression were common comorbidity in these patients, and their severity increased with the intensity of clinical impairment and/or serum homocysteine levels.

The MATRICS Consensus Cognitive Battery: Psychometric Properties of the Chinese Version in Young Patients With Major Depression Disorder.

Background: Young patients with major depressive disorder are also associated with cognitive deficits. The development of an accurate and effective battery to measure cognitive impairment in young patients with major depressive disorder (Y-MDD) is necessary for both research and clinical practice. This study was designed to test the psychometric properties of the Measurement and Treatment Research to Improve Cognition in Schizophrenia (MATRICS) Consensus Cognitive Battery (MCCB) in Y-MDD.Method: Fifty Y-MDD patients, 38 euthymic young patients with bipolar disorder (Y-BD), and 51 healthy teenagers were recruited. The MCCB and the Montreal Cognitive Assessment (MoCA) were administered to assess cognitive impairment at baseline. The MCCB was also assessed 2 weeks later in Y-MDD patients. All subjects were between the ages of 13 and 24 years.Result: In the current study, cognitive impairment was greater in Y-BD patients than in Y-MDD patients in some domains. The MCCB has good internal consistency and reliability in Y-MDD patients. The Pearson correlation coefficients for retest reliability were good. Our findings also revealed an acceptable correlation between the MCCB and the MoCA, indicating good concurrent validity of the MCCB. Furthermore, exploratory factor analysis of the MCCB in Y-MDD patients revealed five domains with acceptable internal structures.Conclusion: The MCCB has acceptable psychometric properties and is a sensitive battery of cognitive impairment in Y-MDD patients. In the future, additional studies need to be carried out with larger samples while controlling for the use of psychotropic medications and antidepressants to validate the findings of the present study.

Rate of radiation-induced microbleed formation on 7T MRI relates to cognitive impairment in young patients treated with radiation therapy for a brain tumor

BackgroundRadiation therapy (RT) is essential to the management of many brain tumors, but has been known to lead to cognitive decline and vascular injury in the form of cerebral microbleeds (CMBs). PurposeIn a subset of children, adolescents, and young adults recruited from a larger trial investigating arteriopathy and stroke risk after RT, we evaluated the prevalence of CMBs after RT, examined risk factors for CMBs and cognitive impairment, and related their longitudinal development to cognitive performance changes. MethodsTwenty-five patients (mean 17 years, range: 10–25 years) underwent 7-Tesla MRI and cognitive assessment. Nineteen patients were treated with whole-brain or focal RT 1-month to 20-years prior, while 6 non-irradiated patients with posterior-fossa tumors served as controls. CMBs were detected on 7T susceptibility-weighted imaging (SWI) using semi-automated software, a first use in this population. ResultsCMB detection sensitivity with 7T SWI was higher than previously reported at lower field strengths, with one or more CMBs detected in 100% of patients treated with RT at least 1-year prior. CMBs were localized to dose-targeted brain volumes with risk factors including whole-brain RT (p = 0.05), a higher RT dose (p = 0.01), increasing time since RT (p = 0.03), and younger age during RT (p = 0.01). Apart from RT dose, these factors were associated with impaired memory performance. Follow-up data in a subset of patients revealed a proportional increase in CMB count with worsening verbal memory performance (r = −0.85, p = 0.03). ConclusionsTreatment with RT during youth is associated with the chronic development of CMBs that evolve with memory impairment over time.

Gallstone Disease is an Independent Predictor for Poststroke Cognitive Impairment in Young Patients with Acute Ischemic Stroke

Background: Poststroke cognitive impairment (PCI) is an important public health issue. Previous studies proved that gallstone disease (GD) was a predictor for cardiovascular and cerebrovascular disease. However, association between PCI and GD remains unclear. We aimed to investigate the predictive value of GD on cognitive impairment after acute ischemic stroke (AIS). Methods: We recruited 373 AIS patients, and the information on patient demographics and risk factors was collected. Cognitive function would be assessed 3-month after AIS. They would undergo gallbladder ultrasonographic examination and structured assessment during hospitalization. Patients were divided into young group (age <65 years) and elder group (age ≥65 years). Multivariate logistic regression models were used to identify the predictors of PCI. Results: PCI was identified in 176 (47.18%) AIS patients. Independent predictors of PCI were GD (p = 0.014), the National Institutes of Health Stroke Scale score and age. While carotid plaque (p = 0.058) seemed like a potential risk factor for PCI. In young group, GD (p = 0.027) was associated to PCI, in elder group, carotid plaque (p = 0.006), and age (p = 0.033) were significantly correlated to PCI. Conclusion: GD was an age-dependent predictor for PCI, particularly in the young AIS patients. Therefore, AIS patients with GD, especially the young, should be systematically evaluated for cognitive function.

The characteristics and determining factors of attention and short-term memory impairment in young patients with obstructive sleep apnea-hypopnea syndrome

Objective: To explore the characteristics and determining factors of attention and short-term memory impairment in young patients with obstructive sleep apnea-hypopnea syndrome (OSAHS). Methods: A total of 203 eligible patients with snoring were recruited for the study at Sleep Center, Second Affiliated Hospital of Soochow University from July 2016 to July 2017, and they were all monitored with overnight polysomnography(PSG), recording sleep parameters [NREM (Ⅰ+Ⅱ) sleep ratio, NREM Ⅲ sleep ratio, REM sleep ratio] and respiratory parameters (AHI, ODI, LSaO(2), TS90%, RRMAI). Based on apnea/hypopnea index(AHI), the patients were categorized into non-OSAHS group (0<AHI≤5/h), mild and moderate OSAHS group (5<AHI≤30/h), and severe OSAHS group (AHI>30/h). All patients were assessed for sleepiness and the Motreal Cognitive Assessment (MoCA) questionnaires, Mini-mental State Examination (MMSE), Epworth Sleepiness Scale(ESS), attention and short-term memory assessment which included Trail Marking Test(TMT), digit span test(DST), and Complex Figure Test(CFT). The PSG parameters, ESS scores, total MoCA scores, attention and short-term memory were compared among groups, and a multivariate logistic regression analysis was conducted to investigate the characteristics of attention and short-term memory impairment in young patients with OSAHS and their determining factors. Results: In the overall cognitive function assessment, severe OSAHS patients's MoCA scores were lower than those of the other two groups [27.0 (25.0, 28.0) vs 27.0 (26.0, 28.0) , 27.0 (26.0, 27.0) , P<0.01]. In the sleepiness self-assessment, severe OSAHS patients's ESS scores were significantly higher than those of the other groups (11.4±5.4 vs 5.3±4.5, 8.0±5.0, P<0.01) . In the attention tests, scores on the DST-D (8.1±1.1 vs 8.8±0.9, 8.5±1.0) and DST-B[5.5 (4.0, 7.0) vs 6.0 (5.0, 7.0) , 6.0 (5.0, 7.0) ] were significantly lower in severe OSAHS patients than in the other two groups (P<0.01) . In the memory tests, the re-drawing scores of severe OSAHS patients were significantly lower than those of the other two groups [23.0 (16.0, 27.0) vs 26.0 (24.0, 28.0) , 24.0 (20.0, 28.0) , P<0.01]. In the executive function tests, severe OSAHS patients spent much longer on both TMT-A (46.7±19.0 vs 40.2±17.4, 34.6±17.2) and TMT-B (76.9±32.6 vs 67.2±21.2, 58.6±27.5) than the other two groups (P<0.01). Multivariate logistic stepwise regression analysis showed that, AHI, ODI and NREM (Ⅰ+Ⅱ) sleep ratios were the independent determining factors. Conclusion: Attention and short-term memory functions of young patients with OSAHS were impaired. The severity of apnea and hypoxia, NREM (Ⅰ+Ⅱ) ratio were all determining factors.

Renal Impairment in Young Patients with Unilateral Ureteral Lithiasis Obstruction: What Factors can be Responsible?

In the literature, occurrence of acute kidney injury (AKI) in young patients with unilateral ureteral lithiasic obstruction and without previous renal impairment is not very often reported, and the underlined pathophysiological mechanisms are poorly known; according to some studies, it is a false kidney failure, the increase in serum creatinine being due to absorbtion of obstructed urine in the affected kidney. We have conducted a retro and prospective study in order to identify the possible risk factors that can cause renal function impairment in young patients (18-40 years) with unilateral ureteral lithiasis obstruction and a normal contralateral kidney. Results. From 402 patients included in the study, 20.64% (83 cases) presented with serum creatinine ] 1.3 mg/dL. In patients with renal impairment, prevalence of male gender and history of NSAIDS use before admission were significantly higher than in non-AKI group. Serum urea/creatinine ratio, and estimated glomerular filtration rate (MDRD formula) were significantly higher, and respectively lower in AKI group. We found no significant differences between the two groups regarding age, prevalence of urinary tract infection after relief of obstruction, C-reactive protein value, and the duration of hospitalization. Conclusions. AKI in young patients with unilateral ureteral lithiasis obstruction and normal contralateral kidney is not quite a rare finding in our region. NSAIDs use can influence development of AKI, and should be used cautiously even in young patients with renal colic. In our opinion, the presence of AKI in patients with unilateral hydronephrosis demands urgent endourological intervention. Choosing conservative therapy in these patients, especially treatment with NSAIDS may aggravate the renal dysfunction.

CORONARY ANGIOGRAPHY IN PATIENTS WITH PREMATURE ACUTE CORONARY SYNDROME AND FAMILY HYPERCHOLESTEROLEMIA

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with a prevalence of 1/200-1/500 in the general population. The aim of the study was to assess the specific features of coronary angiography in young patients with acute coronary syndrome (ACS) and FH diagnosed using Dutch Lipid Clinic Network (I) and Simone Broome Register (II) criteria. 224 pts with early onset of ACS who underwent coronary angiography were selected (≤ 55 years of age for men and ≤ 60 years of age for women). Two, three vessel disease/left coronary artery (LCA) impairment was observed in 12 of 13 (92,3%) pts with definite/possible FH (I, p=0,036) and in 28 of 29 (96,6%) pts with probable FH (II, p=0,001). In patients with family history of cardiovascular disease three ves-sel disease or LCA impairment was observed in 54 of 73 (74%) pts (p=0,024). Comparing two groups of patients with LDL over and below 4,6 mmol/l (the concentration was obtained by ROC analysis) it was shown that 20 of 29 (69%) and 58 of 144 (40,3%) pts (p=0,036) respectively had culprit vessel thrombosis. Thus, we can suppose that in pts with higher LDL level atherosclerotic plaque rupture is observed more frequently in case of ACS. Therefore, it has been shown that multivessel and LCA stem impairment in young patients with ACS and FH is associated with both main factors used for not genetic FH diagnosis: high LDL cholesterol level and family history of cardiovascular disease.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Objective:Ataxia-telangiectasia (AT) is a rare, devastating neurodegenerative disease presenting with early-onset ataxia, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and proneness to cancer. In a previous phase 2 study, we showed that 6 monthly infusions of autologous erythrocytes loaded with dexamethasone (EryDex; EryDel, Urbino, Italy) were effective in improving neurologic impairment in young patients with AT. The present article reports the results of the extension of this study for an additional 24-month period.Methods:After the end of the first trial, 4 patients continued to be treated with monthly EryDex infusions for an additional 24 months, and their clinical outcome was compared with that of 7 age-matched patients who stopped the treatment after the first 6 infusions. The protocol included serial assessment of ataxia (by International Cooperative Ataxia Rating Scale) and adaptive behavior (by Vineland Adaptive Behavior Scales) and clinical and laboratory tests revealing treatment- and steroid-dependent adverse effects, if present.Results:Patients in the extended study experienced a continuous neurologic improvement with respect to their pretreatment status, whereas controls showed a progressive neurologic deterioration (according to the natural history of the disease) after the discontinuation of the treatment. The delivery system we adopted proved to be safe and well-tolerated, and none of the side effects usually associated with the chronic administration of corticosteroids were observed during the entire trial.Conclusions:These promising preliminary results call for a large-scale controlled study on protracted treatment of patients with AT with dexamethasone-loaded erythrocytes.

Therapy for memory and attention impairments in young patients

Objective. To study the efficacy and tolerance of tanakan in the treatment of mild cognitive impairment in young patients. Patients and methods. The study enrolled 30 patients whose mean age was 33.5±7.5 years. It used clinical neurological examination; a test for rating general condition, activity, and mood; studies to evaluate aural short-term and verbal short-term memories and to estimate the level of attention using Schulte's tables, and questionnaires for the rating of autonomic disorders and nocturnal sleep quality, those for the patient subjective assessment of treatment efficiency and for the recording of adverse reactions. Results. Tanakan therapy led to the normalized emotional status in the patients, improved nocturnal sleep, and reduced autonomic disorders. There was a tendency towards improvement of all characteristics of attention. Aural and verbal memories became better. Conclusion. Tanakan is an effective and safe drug to treat cognitive impairment at any age.

Restrictive pulmonary dysfunction and its predictors in young patients with β‐thalassaemia major

Pulmonary dysfunction represents one of the most undervalued and less recognized complications in patients with β-thalassaemia. The aim of this study was to assess the pattern of pulmonary dysfunction and consequently to investigate possible associated factors that might contribute to lung impairment in young patients with β-thalassaemia major. Fifty-two children and young adults (mean age: 21.33 ± 6.24 years) with β-thalassaemia major on conventional treatment (transfusions and iron chelation therapy) were included in the study. A complete computerized pulmonary function testing (PFT) system for recording pulmonary diffusion capacity and simultaneous determination of alveolar volume and pulmonary volumes was equipped. Results showed that 20 patients (38.46%) had restrictive pulmonary pattern that was preferentially observed in older and shorter patients. Serum ferritin levels were higher in the restrictive group (2,096 ± 1,831 ng/dl) compared to patients with normal pulmonary function (1,354 ± 942 ng/dl) (P = 0.066). Diffusional impairment characterized by significantly lower DLCO*% values, was observed in the restrictive group (P = 0.004), implicating the 62.5% of the population studied. Paired linear correlations showed that age was negatively correlated to DLCO*% (r = -0.548, P < 0.001) and SaO(2) % (r = -0.789, P < 0.001) and with most of the pulmonary functional parameters that determine a restrictive. Multivariate regression analysis identified age as the major predictor for restrictive pulmonopathy followed by serum ferritin levels. Our study shows that pulmonary impairment is shown in a great proportion even among asymptomatic young thalassaemic patients, thus, regular screening of pulmonary function should be adopted in the routine clinical follow up of these patients.

Atteinte audiovisuelle inaugurale de pathologies neurologiques spécifiques

The association of visual and auditory impairments, simultaneously or consecutively, is a rare condition at the onset of neurological diseases. To determine whether audiovisual impairment can be associated with a specific group of neurological disorders at onset, we performed a prospective study of 307 patients over 6 months in a specialized neurological unit in inflammatory diseases. Six patients (2%) experienced inaugural audiovisual impairments. The mean age of patients at onset was 39.5 ± 14.7 years, with a male:female ratio of 1:2. Both deficiencies were reported in three cases, including loss of visual acuity with tinnitus (two cases) or hearing loss (one case). Initial visual dysfunction, characterised by loss of visual acuity, was noted in one patient. Initial auditory impairment, characterised by dizziness and hearing loss, was noted in two patients. The mean interval between the occurrence of visual and auditory impairments was 3.8 ± 4.3 months. A neurological diagnosis was made in four cases (67%) at a mean time of 4.6 ± 4.6 months after disease onset. Visual impairments were optic neuritis for multiple sclerosis, serous retinal detachment for Vogt-Koyanagi-Harada's disease, a central retinal artery occlusion for Susac's syndrome and a retinal vasculitis for Cogan's syndrome. The systematic investigation of inaugural audiovisual impairment in young patients could help shorten the time to a specific neurological diagnosis.

Baroreflex analysis in diabetes mellitus: linear and nonlinear approaches

The aim of our study was to employ novel nonlinear synchronization approaches as a tool to detect baroreflex impairment in young patients with subclinical autonomic dysfunction in Type 1 diabetes mellitus (DM) and compare them to standard linear baroreflex sensitivity (BRS) methods. We recorded beat-to-beat pulse interval (PI) and systolic blood pressure (SBP) in 14 DM patients and 14 matched healthy controls. We computed the information domain synchronization index (IDSI), cross-multiscale entropy, joint symbolic dynamics, information-based similarity index (IBSI) in addition to time domain and spectral measures of BRS. This multi parametric analysis showed that baroreflex gain is well-preserved, but the time delay within the baroreflex loop is significantly increased in patients with DM. Further, the level of similarity between blood pressure and heart rate fluctuations was significantly reduced in DM. In conclusion, baroreflex function in young DM patients is changed. The quantification of nonlinear similarity and baroreflex delay in addition to baroreflex gain may provide an improved diagnostic tool for detection of subclinical autonomic dysfunction in DM.

Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chain

To evaluate aortic elasticity with MRI on young asymptomatic individuals with mutation of the smooth muscle myosin heavy chain in whom aortic enlargement is not present. Aortic compliance, aortic distensibility, and pulse wave velocity (PWV) were semiautomatically measured from MRI in 8 asymptomatic subjects having a mutation of the MYH11 gene (M+) and 21 nonmutated relatives (M-) of similar age, sex, and blood pressure characteristics. Despite a similar aortic diameter in both groups, the aortic compliance and distensibility were significantly lower in M+ subjects compared with M- (0.84+/-0.33 versus 2.03+/-0.54 mm2/mmHg, 1.18+/-0.62 10(-3) versus 5.11+/-1.58 10(-3) mmHg(-1), respectively), and PWV was significantly higher (5.35+/-1.53 versus 3.60+/-0.64 m.s(-1)). A threshold aortic compliance value of 1.3 mm2/mmHg separated the two groups. The receiver operating characteristics curve analysis indicated an optimal threshold of 2.9 10(-3) mmHg(-1) for aortic distensibility (sensitivity: 87.5%, specificity: 90%), and of 4.4 m.s(-1) for PWV (sensitivity: 75%, specificity: 100%). Young asymptomatic adults with MYH11 mutation have an aortic compliance impairment which is not detectable by the sole measurement of the aortic size. Aortic compliance measurement might be part of routine examination in patients suspected of inherited aortic disease even with a normal aortic diameter.