Ectopic Fat Depots and Cardiometabolic Burden: A Possible Dangerous Liaison in Women Planning Assisted Reproduction

Objective: We evaluated cardiometabolic burden in women planning assisted reproduction in order to identify subgroups at higher risk of pregnancy complications and cardiovascular disease. Materials and methods: In this cross-sectional study we investigated 60 infertile women with BMI≥25 kg/m(2) referred to the Center for Assisted Reproduction. All women underwent metabolic, anthropometric parameters and ultrasound evaluation of ectopic fat depots. Results: All women had waist ≥80 cm. We found that 93.3% of women had pathological subcutaneous, 58.3% visceral and 80% para-perirenal fat; all women had fatty liver. Visceral fat and severity of steatosis were significantly related to the presence of metabolic syndrome (OR =5.7; p=0.03).A significant negative correlation between low HDL-c and para-perirenal fat (p<0.0001), a significant positive correlation with fasting plasma glucose and para-perirenal fat (p=0.001) were found. We observed a significant positive correlation between visceral fat and hs-CRP (p=0.002), HOMA-IR (p=0.04) and triglycerides (p=0.002), a significant negative correlation with HDL-c (p=0.05). Conclusion: This study by highlighting a clinically “dangerous liaison” between ectopic fat depots and metabolic/inflammatory markers, might permit to identify women with a worse metabolic phenotype and encourage lifestyle changes for improving their general and reproductive health together

Using the Oxford cognitive screen to detect cognitive impairment in stroke patients. A comparison with the Mini-Mental State Examination

Background: The Oxford Cognitive Screen (OCS) was recently developed with the aim of describing the cognitive de cits after stroke. The scale consists of 10 tasks encom- passing ve cognitive domains: attention and executive function, language, memory, number processing, and praxis. OCS was devised to be inclusive and un-confounded by aphasia and neglect. As such, it may have a greater potential to be informative on stroke cognitive de cits of widely used instruments, such as the Mini-Mental State Examination (MMSE) or the Montreal Cognitive Assessment, which were originally devised for demented patients. Objective: The present study compared the OCS with the MMSE with regards to their ability to detect cognitive impairments post-stroke. We further aimed to examine perfor- mance on the OCS as a function of subtypes of cerebral infarction and clinical severity. Methods: 325 rst stroke patients were consecutively enrolled in the study over a 9-month period. The OCS and MMSE, as well as the Bamford classi cation and NIHSS, were given according to standard procedures. results: About a third of patients (35.3%) had a performance lower than the cutoff (&lt;22) on the MMSE, whereas 91.6% were impaired in at least one OCS domain, indicating higher incidences of impairment for the OCS. More than 80% of patients showed an impairment in two or more cognitive domains of the OCS. Using the MMSE as a standard of clinical practice, the comparative sensitivity of OCS was 100%. Out of the 208 patients with normal MMSE performance 180 showed impaired performance in at least one domain of the OCS. The discrepancy between OCS and MMSE was particularly strong for patients with milder strokes. As for subtypes of cerebral infarction, fewer patients demonstrated widespread impairments in the OCS in the Posterior Circulation Infarcts category than in the other categories. conclusion: Overall, the results showed a much higher incidence of cognitive impairment with the OCS than with the MMSE and demonstrated no false negatives for OCS vs MMSE. It is concluded that OCS is a sensitive screen tool for cognitive de cits after stroke. In particular, the OCS detects high incidences of stroke-specific cognitive impairments, not detected by the MMSE, demonstrating the importance of cognitive pro ling.Background: The Oxford Cognitive Screen (OCS) was recently developed with the aim of describing the cognitive deficits after stroke. The scale consists of 10 tasks encompassing five cognitive domains: attention and executive function, language, memory, number processing, and praxis. OCS was devised to be inclusive and un-confounded by aphasia and neglect. As such, it may have a greater potential to be informative on stroke cognitive deficits of widely used instruments, such as the Mini-Mental State Examination (MMSE) or the Montreal Cognitive Assessment, which were originally devised for demented patients. Objective: The present study compared the OCS with the MMSE with regards to their ability to detect cognitive impairments post-stroke. We further aimed to examine performance on the OCS as a function of subtypes of cerebral infarction and clinical severity. Methods: 325 first stroke patients were consecutively enrolled in the study over a 9-month period. The OCS and MMSE, as well as the Bamford classification and NIHSS, were given according to standard procedures. Results: About a third of patients (35.3%) had a performance lower than the cutoff(&lt; 22) on the MMSE, whereas 91.6% were impaired in at least one OCS domain, indicating higher incidences of impairment for the OCS. More than 80% of patients showed an impairment in two or more cognitive domains of the OCS. Using the MMSE as a standard of clinical practice, the comparative sensitivity of OCS was 100%. Out of the 208 patients with normal MMSE performance 180 showed impaired performance in at least one domain of the OCS. The discrepancy between OCS and MMSE was particularly strong for patients with milder strokes. As for subtypes of cerebral infarction, fewer patients demonstrated widespread impairments in the OCS in the Posterior Circulation Infarcts category than in the other categories. Conclusion: Overall, the results showed a much higher incidence of cognitive impairment with the OCS than with the MMSE and demonstrated no false negatives for OCS vs MMSE. It is concluded that OCS is a sensitive screen tool for cognitive deficits after stroke. In particular, the OCS detects high incidences of stroke-specific cognitive impairments, not detected by the MMSE, demonstrating the importance of cognitive profiling. © 2018 Mancuso, Demeyere, Abbruzzese, Damora, Varalta, Pirrotta, Antonucci, Matano, Caputo, Caruso, Pontiggia, Coccia, Ciancarelli, Zoccolotti and The Italian OCS Grou

The impact of cognitive function deficits and their recovery on functional outcome in subjects affected by ischemic subacute stroke: results from the Italian multicenter longitudinal study CogniReMo

Background: The recovery of independence in activities of daily living is a fundamental goal of rehabilitation programs in subjects affected by subacute stroke. Rehabilitation is focused both on motor and cognitive aspects, and some evidence has reported cognitive deficits as prognostic factors of motor recovery. However, rehabilitation is a dynamic process during which executive functions and motor functions should be improved. Aim: The aim of the study is to evaluate the relationships between impairments in cognitive functions and recovery of functional independence in stroke patients during the subacute phase. Design: Multicenter observational study. Setting: Intensive rehabilitation units. Population: A sample of 319 stroke patients in subacute phase (70.6±11.6 years, 40.4% females), consecutively admitted from November 2019 to July 2021 at sixteen rehabilitation centers were enrolled in this observational, prospective and multicentric study with longitudinal assessments. Methods: Cognitive and functional assessments were performed at hospital admission and discharge, including Oxford Cognitive Screen, modified Barthel Index, Functional Independent Measure, Fugl-Meyer assessment scale and National Institutes of Health Stroke Scale. Results: A regression analysis identified five predictors (out of about 200 tested variables) of functional recovery related to four aspects assessed at admission: functional status (P&lt;0.001), lower limb functioning (P=0.002), attention (P=0.011), and executive functions (P=0.017). Furthermore, patients who recovered deficits in executive functions had the same recovery of those without deficits, whereas those who maintained deficits had a smaller recovery (P=0.019). Conclusions: The relationship between cognitive and motor deficits is increasingly highlighted and the recovery of executive functions deficits seems to contribute to motor recovery. Clinical rehabilitation impact: Our results suggest that the recovery of executive functions may promote the recovery of the functional outcome of the patient with subacute stroke. Future treatment protocols may benefit from paying more attention to the recovery of executive functions

Variability in genes regulating vitamin D metabolism is associated with vitamin D levels in type 2 diabetes

Mortality rate is increased in type 2 diabetes (T2D). Low vitamin D levels are associated with increased mortality risk in T2D. In the general population, genetic variants affecting vitamin D metabolism (DHCR7 rs12785878, CYP2R1 rs10741657, GC rs4588) have been associated with serum vitamin D. We studied the association of these variants with serum vitamin D in 2163 patients with T2D from the "Sapienza University Mortality and Morbidity Event Rate (SUMMER) study in diabetes". Measurements of serum vitamin D were centralised. Genotypes were obtained by Eco™ Real-Time PCR. Data were adjusted for gender, age, BMI, HbA1c, T2D therapy and sampling season. DHCR7 rs12785878 (p = 1 x 10-4) and GC rs4588 (p = 1 x 10-6) but not CYP2R1 rs10741657 (p = 0.31) were significantly associated with vitamin D levels. One unit of a weighted genotype risk score (GRS) was strongly associated with vitamin D levels (p = 1.1 x 10-11) and insufficiency (&lt;30 ng/ml) (OR, 95%CI = 1.28, 1.16-1.41, p = 1.1 x 10-7). In conclusion, DHCR7 rs12785878 and GC rs4588, but not CYP2R1 rs10741657, are significantly associated with vitamin D levels. When the 3 variants were considered together as GRS, a strong association with vitamin D levels and vitamin D insufficiency was observed, thus providing robust evidence that genes involved in vitamin D metabolism modulate serum vitamin D in T2D

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected. Results: One thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%). Discussion: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario

Using the Oxford Cognitive Screen to detect cognitive impairment in stroke patients: a comparison with the Mini-Mental State Examination

Background: The Oxford Cognitive Screen (OCS) was recently developed with the aim of describing the cognitive deficits after stroke. The scale consists of 10 tasks encompassing five cognitive domains: attention and executive function, language, memory, number processing, and praxis. OCS was devised to be inclusive and un-confounded by aphasia and neglect. As such, it may have a greater potential to be informative on stroke cognitive deficits of widely used instruments, such as the Mini-Mental State Examination (MMSE) or the Montreal Cognitive Assessment, which were originally devised for demented patients. Objective: The present study compared the OCS with the MMSE with regards to their ability to detect cognitive impairments post-stroke. We further aimed to examine performance on the OCS as a function of subtypes of cerebral infarction and clinical severity. Methods: 325 first stroke patients were consecutively enrolled in the study over a 9-month period. The OCS and MMSE, as well as the Bamford classification and NIHSS, were given according to standard procedures. Results: About a third of patients (35.3%) had a performance lower than the cutoff (<22) on the MMSE, whereas 91.6% were impaired in at least one OCS domain, indicating higher incidences of impairment for the OCS. More than 80% of patients showed an impairment in two or more cognitive domains of the OCS. Using the MMSE as a standard of clinical practice, the comparative sensitivity of OCS was 100%. Out of the 208 patients with normal MMSE performance 180 showed impaired performance in at least one domain of the OCS. The discrepancy between OCS and MMSE was particularly strong for patients with milder strokes. As for subtypes of cerebral infarction, fewer patients demonstrated widespread impairments in the OCS in the Posterior Circulation Infarcts category than in the other categories. Conclusion: Overall, the results showed a much higher incidence of cognitive impairment with the OCS than with the MMSE and demonstrated no false negatives for OCS vs MMSE. It is concluded that OCS is a sensitive screen tool for cognitive deficits after stroke. In particular, the OCS detects high incidences of stroke-specific cognitive impairments, not detected by the MMSE, demonstrating the importance of cognitive profiling

Visual search improvement in hemianopic patients after audio-visual stimulation

One of the most effective techniques in the rehabilitation of visual field defects is based on implementation of oculomotor strategies to compensate for visual field loss. In the present study we develop a new rehabilitation approach based on the audio-visual stimulation of the visual field. Since it has been demonstrated that audio-visual interaction in multisensory neurons can improve temporally visual perception in patients with hemianopia, the aim of the present study was to verify whether a systematic audio-visual stimulation might induce a long-lasting amelioration of visual field disorders. Eight patients with chronic visual field defects were trained to detect the presence of visual targets. During the training, the visual stimulus could be presented alone, i.e. unimodal condition, or together with an acoustic stimulus, i.e. crossmodal conditions. In the crossmodal conditions, the spatial disparity between the visual and the acoustic stimuli were systematically varied (0, 16 and 32° of disparity). Furthermore, the temporal interval between the acoustic stimulus and the visual target in the crossmodal conditions was gradually reduced from 500 to 0 ms. Patients underwent the treatment for 4 h daily, over a period of nearly 2 weeks. The results showed a progressive improvement of visual detections during the training and an improvement of visual oculomotor exploration that allowed patients to efficiently compensate for the loss of vision. More interesting, there was a transfer of treatment gains to functional measures assessing visual field exploration and to daily-life activities, which was found stable at the 1 month follow-up control session. These findings are very promising with respect to the possibility of taking advantage of human multisensory capabilities to recover from unimodal sensory impairments

5-Methyltetrahydrofolate and Vitamin B12 Supplementation Is Associated with Clinical Pregnancy and Live Birth in Women Undergoing Assisted Reproductive Technology

The homocysteine pathway in the preconception period should be evaluated to highlight micronutrient deficiencies and warrants optimal multivitamin supplementation, before Assisted Reproduction, as preconception care. We conducted a retrospective study aimed at investigating the role of vitamin B complex (5-methyltetrahydrofolate, vitamin B12, vitamin B6) supplement use compared with the role of only folic acid supplement use, in relation to clinical pregnancy and live birth in infertile women undergoing homologous ART. We investigated 269 Caucasian women referred to the Centre for Assisted Reproductive Technology for homologous ART. In these women, 111 (Group A) were daily supplemented with vitamin B complex and 158 (Group B) with only folic acid. In group A the mean number of Metaphase II oocytes and the 2PN Fertilization Rate were higher in comparison to group A (p = 0.04; p = 0.05, respectively). A higher percentage of women in group A had a clinical pregnancy and live birth in comparison to group B (p = 0.01; p = 0.02, respectively). Vitamin B complex supplementation remained independently associated, after multivariable adjustment, with clinical pregnancy (OR 2.03, p = 0.008) and live birth (OR 1.83, p = 0.03). Women supplemented with 5-MTHF and vitamin B12, have a higher chance of clinical pregnancy and live birth in comparison to those supplemented with only folic acid