Buchmarker0624

Additional phenotypic expansions included short stature and normal development/cognition, each noted in two individuals in this cohort, as well as absence of neuropsychiatric disorders in all. This study identifies new associations for PRR12 disruption in humans and presents a genetic diagnosis resulting in unilateral ocular phenotypes in a significant proportion of cases.

Clinical and histological diagnosis of Sézary syndrome (SS) and mycosis fungoides (MF) is challenging in clinical routine.

We investigated five blood markers previously described for SS (T-plastin, Twist, KIR3DL2, NKp46 and Tox) in a prospective validation cohort of patients.

We included 447 patients in this study and 107 patients were followed up for prognosis. The markers were analysed by reverse transcriptase quantitative real-time polymerase chain reaction (RT-qPCR) on peripheral blood leucocytes and CD4

T cells in a cohort of consecutive patients with early MF, erythrodermic MF and SS and compared with patients presenting with benign inflammatory dermatoses (BID) and erythrodermic BID. The markers were assessed in parallel to gold standard values such as CD4/CD8 ratio, loss of CD7 and CD26 membrane expression and CD4 absolute values. Sensitivity and specificity were analysed by receiver operator characteristic curves. The prognostic value of selected markers was analysed on a subset of patients. This study was conducted in one centre.

We defined cut-off values for each marker. T-plastin, Twist and KIR3DL2 had the best validity. SS may be overrepresented. The combination of T-plastin and Twist was able to differentiate between erythrodermic MF or BID and SS. The additional analysis of KIR3DL2 may be useful to predict the prognosis.

We propose T-plastin, Twist and KIR3DL2 measured by RT-qPCR as new diagnostic markers for Sézary syndrome.

We propose T-plastin, Twist and KIR3DL2 measured by RT-qPCR as new diagnostic markers for Sézary syndrome.Vogt-Koyanagi-Harada (VKH) is an autoimmune disease characterized by inflammation in tissues that contain melanocytes. We aimed to increase the knowledge regarding immunological pathways deregulated in VKH disease. We compared the percentages of circulating natural killer (NK), NK T and T cells expressing the activatory markers CD16, CD69, NK group 2D (NKG2D), natural cytotoxicity triggering receptor 3 (Nkp30), natural cytotoxicity triggering receptor 1 (Nkp46) and the inhibitory marker NK group 2 member A (NKG2A) in 10 active VKH patients, 20 control subjects (CTR) and seven patients with Behçet disease (BD) by flow cytometry. Cytotoxic potential of NK cells was determined through the degranulation marker CD107a expression after contact with K562 cells by flow cytometry. Moreover, plasmatic levels of 27 cytokines were determined with a multiplex bead-based assay. VKH patients showed higher percentages of NKG2Dpos NK and NK T cells versus CTR. The cytotoxic potential of NK cells induced by K562 cells was comparable between VKH patients and CTR. Finally, higher concentrations of interleukin (IL)-4, IL-5, IL-7, IL-17 and platelet-derived growth factor-subunits B (PDGF-bb) were detected in plasma of VKH patients versus CTR. The immune profile of VKH patients was similar to that of BD patients.

Fetal bradycardia due to sentinel events such as placental abruption, cord prolapse or uterine rupture is associated with an increased risk of acidemia at birth. In the absence of a sentinel event, data regarding neonatal prognosis are scarce, and it seems plausible that the depth of bradycardia might be associated with an increased risk of acidosis at birth. MK-0991 in vivo The objective was to determine whether the depth of bradycardia is associated with a higher risk of umbilical artery acidemia at birth in term singleton pregnancies requiring cesarean delivery during labor.

A retrospective comparative study of all cesarean deliveries for bradycardia in an academic tertiary center in the 6-year period of 2013-2018, among term singleton pregnancies. Bradycardia associated with a sentinel event such as placental abruption, cord prolapse or uterine rupture, were excluded. The nadir of the bradycardia was defined as the lowest fetal heart rate baseline lasting at least 3 minutes during bradycardia. Women who delivered an infant with an umbilical pH at birth <7.00 (acidosis group) were compared with women who delivered an infant with an umbilical pH at birth ≥7.00 (non-acidosis group).

Among 111 eligible cases, 32 women in the acidosis group were compared with 79 in the non-acidosis group. The median nadir of the bradycardia was lower in the acidosis than in the non-acidosis group (60bpm, interquartile range [56-65] vs 70 [60-76], P<.01). A bradycardia nadir <60bpm emerged as the optimal threshold for predicting acidemia and was more frequently observed in the acidosis than in the non-acidosis group (10 [31%] vs 10 [13%], P=.02). In the multivariable analysis, a nadir <60bpm was independently associated with an umbilical artery pH <7.00 (adjusted OR 3.16, 95% CI 1.10-9.04).

A bradycardia nadir <60bpm was associated with a tripled risk of umbilical artery acidemia at birth.

A bradycardia nadir less then 60 bpm was associated with a tripled risk of umbilical artery acidemia at birth.Lymphocytic thrombophilic arteritis and Sneddon syndrome can have very similar clinical presentations with chronic persistent widespread blanchable livedo racemosa. Lymphocytic thrombophilic arteritis has only recently been described and generally is associated with a benign prognosis. Sneddon syndrome is associated with the development of multiple cerebrovascular accidents and progressive neurological impairment. We present three cases of Sneddon syndrome and compare them with lymphocytic thrombophilic arteritis to identify patients at risk of neurological events.

The age at which women give birth is rising steadily in the western world. Advanced maternal age has been associated with adverse pregnancy outcomes. We assessed the association between advanced maternal age and the risk of adverse maternal and perinatal outcome in primigravid and multigravid women.

The study was a population-based cohort study and included women giving birth between January 2000 and December 2018 using data from the Dutch perinatal registration of Perined. Women were divided into age groups. We compared outcomes between women of 40-44, 45-49, and over 50years old (the study groups) with women of 25-29years old (reference group), stratified for parity. We employed multivariable regression to correct for possible confounders including methods of conception, multiple pregnancies, ethnicity, and socio-economic status. Our primary outcomes were maternal and perinatal mortality. Secondary outcomes included common maternal and perinatal complications, as well as cesarean section rate.

A cohort of 3700326 women gave birth during the study period.