PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.

We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson’s disease and 3 further relatives were reported affected, according to an autosomal dominant transmission

Quantitative assessment of non-conservative radiation forces in an optical trap

The forces acting on an optically trapped particle are usually assumed to be conservative. However, the presence of a non-conservative component has recently been demonstrated. Here we propose a technique that permits one to quantify the contribution of such non-conservative component. This is an extension of a standard optical tweezers calibration technique and, therefore, can easily become a standard test to verify the conservative optical force assumption. Using this technique we have analyzed different-sized optically trapped particles under different trapping conditions. We conclude that the non-conservative effects are effectively negligible and do not affect the standard calibration procedure, unless for extremely low-power trapping, far away from the trapping regimes usually used in experiments.Comment: 8 pages, 4 figures; Europhys. Lett. (EPL) (2009), accepte

Contraception after pregnancy

Whatever the outcome, pregnancy provides the opportunity to offer effective contraception to couples motivated to avoid another pregnancy. This narrative review summarizes the evidence for health providers, drawing attention to current guidelines on which contraceptive methods can be used, and when they should be started after pregnancy, whatever its outcome. Fertility returns within 1 month of the end of pregnancy unless breastfeeding occurs. Breastfeeding, which itself suppresses fertility after childbirth, influences both when contraception should start and what methods can be used. Without breastfeeding, effective contraception should be started as soon as possible if another pregnancy is to be avoided. Interpregnancy intervals of at least 6 months after miscarriage and 1-2 years after childbirth have long been recommended by the World Health Organization in order to reduce the chance of adverse pregnancy outcome. Recent research suggests that this may not be necessary, at least for healthy womenPeer reviewe

Surgical treatment of inflammatory periapical cyst: a clinical case report

Among the odontogenic cysts, there are radicular cysts or also called periapical cysts, are the most common odontogenic cyst. They develop at the apex of a tooth with pulp necrosis, which may be the consequence of dental caries or trauma. they are asymptomatic, grow slowly, and are discovered on routine radiographs. With the proliferation of the ERM and its activation, there is an increase in osmotic pressure, causing the cyst to expand, normally this ERM is not activated, so only granulation tissue develops at the apex of the affected tooth. Granulation tissue is called periapical granuloma and, as such, histologically lacks an epithelial lining. In the present study, a case of a 65-year-old female patient with an inflammatory periapical cyst in the region of the lower incisors is reported

Effects of Therapy with Maraviroc on the Carotid Intima Media Thickness in HIV-1/HCV Co-infected Patients

To evaluate, in human immunodeficiency virus-hepatitis C virus co-infected patients, the impact of C-C chemokine receptor type 5 (CCR5) antagonist maravirocbased antiretroviral therapy on the carotid intima media thickness and on atheromasic plaques. Patients and Methods: In this pilot prospective study, 12 HIV-HCV co-infected patients underwent color-Doppler ultrasonography before and 48 weeks after switching to a dual therapy based on maraviroc plus protease inhibitors boosted with ritonavir. Changes of intima media thickness, inflammatory and endothelial adhesion biomarkers levels, Veterans Aging Cohort Study index and Framingham risk score were evaluated. Results: At baseline 11 (91.6%) patients showed pathological ultrasonographic findings. After 48 weeks, two patients showed an amelioration of intima media thickness. Of the remaining patients with plaques, four showed a reduction of the previously diagnosed plaque; no patients worsened. Conclusion: Our data suggest that CCR5 inhibition could reduce the development of atherosclerosis especially in the non-calcific stage and could play an important role in the blockade of atheromasic plaque progression

Relationship between albumin excretion rate and aortic stiffness in untreated essential hypertensive patients

OBJECTIVES: To evaluate, in a group of nondiabetic essential hypertensive patients with normal renal function, the relationship between albumin excretion rate (AER) and carotid-femoral pulse wave velocity (PWV), as an index of aortic stiffness. DESIGN: Cross-sectional study. SETTING: Outpatient hypertension clinic. SUBJECTS: Seventy patients with mild-to-moderate essential hypertension, aged 42 +/- 8 years, never pharmacologically treated. All subjects underwent routine laboratory tests, 24-h ambulatory blood pressure (BP) monitoring, measurement of carotid-femoral PWV, by means of a computerized method, and AER. RESULTS: Microalbuminuric patients (AER > or = 20 microg min(-1); n = 19), when compared with normoalbuminuric subjects, showed more elevated 24-h BP (136/88 +/- 10/10 vs. 128/83 +/- 7/6 mmHg; P < 0.001 and P = 0.013, for systolic and diastolic BP respectively) and higher values of carotid-femoral PWV (10.4 +/- 2 m s(-1) vs. 9.2 +/- 1.3; P = 0.006). This latter difference remained statistically significant, even after correction by ancova for 24-h systolic and diastolic BP, and body mass index (BMI, P = 0.016). Univariate regression analysis disclosed a tight correlation between AER and carotid-femoral PWV (r = 0.42; P = 0.0003). This association was confirmed in a multiple regression model (beta = 0.35; P = 0.009) in which, as independent variables, besides PWV, 24-h BP, age, serum glucose values, smoking status, gender and BMI, were added. CONCLUSIONS: Our results seem to confirm that microalbuminuria may represent the early renal manifestation of a widespread vascular dysfunction, and therefore it is an integrated marker of cardiovascular risk

Comparison of Two-Dimensional- and Three-Dimensional-Based U-Net Architectures for Brain Tissue Classification in One-Dimensional Brain CT

Brain tissue segmentation plays a crucial role in feature extraction, volumetric quantification, and morphometric analysis of brain scans. For the assessment of brain structure and integrity, CT is a non-invasive, cheaper, faster, and more widely available modality than MRI. However, the clinical application of CT is mostly limited to the visual assessment of brain integrity and exclusion of copathologies. We have previously developed two-dimensional (2D) deep learning-based segmentation networks that successfully classified brain tissue in head CT. Recently, deep learning-based MRI segmentation models successfully use patch-based three-dimensional (3D) segmentation networks. In this study, we aimed to develop patch-based 3D segmentation networks for CT brain tissue classification. Furthermore, we aimed to compare the performance of 2D- and 3D-based segmentation networks to perform brain tissue classification in anisotropic CT scans. For this purpose, we developed 2D and 3D U-Net-based deep learning models that were trained and validated on MR-derived segmentations from scans of 744 participants of the Gothenburg H70 Cohort with both CT and T1-weighted MRI scans acquired timely close to each other. Segmentation performance of both 2D and 3D models was evaluated on 234 unseen datasets using measures of distance, spatial similarity, and tissue volume. Single-task slice-wise processed 2D U-Nets performed better than multitask patch-based 3D U-Nets in CT brain tissue classification. These findings provide support to the use of 2D U-Nets to segment brain tissue in one-dimensional (1D) CT. This could increase the application of CT to detect brain abnormalities in clinical settings

Herpes zoster ophthalmicus in two women after Pfizer-BioNTech (BNT162b2) vaccine

Varicella‐zostervirus(VZV) isresponsibleforaprimaryinfection (i.e., chickenpox); subsequently, thevirus remains dormant at the level of thespinal dorsal root andcranial ganglia. Inconditionsof stressor immunosuppression, itcanreactivateandcausesecondary herpes zoster (HZ) infection. HZOaccounts for 10%–20%ofHZ casesandischaracterizedbyinvolvementoftheophthalmicbranch ofthefifthcranialnerve. It isconsideredadangerousconditionthat couldleadtosevereconsequencessuchasblindnessin20%–70%of thecases.3Themainriskfactors for thereactivationofVZVarea compromiseofthecell‐mediatedimmunity(CMI)thatpresentsitself inoldage, insomechronicdiseasessuchasdiabetes, autoimmune disease,HIV,andduringimmunosuppressivetherapies.4 Several casesofHZhavebeendescribed inPfizervaccinerecipients,however,onlyoneofthemwithophthalmiclocalization, ina 56‐year‐oldwomanwithrheumatoidarthritis.5 Wereport twocasesofpostvaccineHZOalthoughararelyreportedadverseeventwithpotentiallyseriousconsequences. HZOwasalsodiagnosedinfourpatientssufferingfromamoderateformofCOVID‐19infection6thatwereeffectivelytreatedwith antiviralswithoutanyvisual sequelae. Inthesecases, thetriggering factorforviralreactivationisprobablyduetolymphopeniasecondary to SARS‐CoV‐2