Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among patients and studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported patients and perform a large-scale phenotype-genotype comparison from published data.

Linked Colour imaging for the detection of polyps in patients with Lynch syndrome: a multicentre, parallel randomised controlled trial.

Objective: Despite regular colonoscopy surveillance, colorectal cancers still occur in patients with Lynch syndrome. Thus, detection of all relevant precancerous lesions remains very important. The present study investigates Linked Colour imaging (LCI), an image-enhancing technique, as compared with high-definition white light endoscopy (HD-WLE) for the detection of polyps in this patient group.

Treatment decision for transcatheter aortic valve implantation: the role of the heart team : Position statement paper of the Dutch Working Group of Transcatheter Heart Interventions.

The current paper presents a position statement of the Dutch Working Group of Transcatheter Heart Valve Interventions that describes which patients with aortic stenosis should be considered for transcatheter aortic valve implantation and how this treatment proposal/decision should be made. Given the complexity of the disease and the assessment of its severity, in particular in combination with the continuous emergence of new clinical insights and evidence from physiological and randomised clinical studies plus the introduction of novel innovative treatment modalities, the gatekeeper of the treatment proposal/decision and, thus, of qualification for cost reimbursement is the heart team, which consists of dedicated professionals working in specialised centres.

A prospective development study of software-guided radio-frequency ablation of primary and secondary liver tumors: Clinical intervention modelling, planning and proof for ablation cancer treatment (ClinicIMPPACT).

Introduction: Radio-frequency ablation (RFA) is a promising minimal-invasive treatment option for early liver cancer, however monitoring or predicting the size of the resulting tissue necrosis during the RFA-procedure is a challenging task, potentially resulting in a significant rate of under- or over treatments. Currently there is no reliable lesion size prediction method commercially available.

Objectives: ClinicIMPPACT is designed as multicenter-, prospective-, non-randomized clinical trial to evaluate the accuracy and efficiency of innovative planning and simulation software.

The impact of fetal gender and ethnicity on the risk of spontaneous preterm delivery in women with symptoms of preterm labor.

Objective: The objective of this study is to evaluate the relation among fetal gender, ethnicity, and preterm labor (PTL) and preterm delivery (PTD).

Methods: A secondary analysis was performed of a prospective cohort study including women with symptoms of PTL between 24 and 34 weeks. The proportion of women carrying a male or female fetus at the onset of PTL was calculated.

Prescribing patterns of antenatal corticosteroids in women with threatened preterm labor.

Objective: To assess the impact of cervical length (CL) measurement and fetal fibronectin testing (fFN) on the clinicians' decision to prescribe antenatal corticosteroids (ACS) to women with symptoms of preterm labor.

Study Design: This is a secondary analysis of a prospective cohort study including women with symptoms of preterm labor and intact membranes between 24 and 34 weeks' gestation. We compared the proportion prescribed and completed ACS courses, preterm delivery within seven days and median intervals from ACS to delivery in four groups: group 1 CL<10 mm, group 2 CL 10-30 mm and positive fFN, group 3 CL 10-30 mm and negative fFN, group 4 CL>30 mm.

Diagnosis and management of urothelial carcinoma in situ of the lower urinary tract: a systematic review.

Context: Urothelial carcinoma in situ (CIS) has a high propensity for progression. It is usually reported within the heterogeneous context of non-muscle-invasive bladder cancer (NMIBC) but warrants special consideration.

Objective: To review the contemporary literature on the diagnosis and management of CIS.

Host impairments in patients with neoplastic diseases.

Healthy individuals possess an immune system comprising physical barriers, innate and acquired immunity as well as the indigenous microflora that populate the body surfaces. The immune system maintains constant vigilance over the body at the cellular level as well as at the interface between the host integument and the resident microflora. However, neoplastic diseases and their treatment often lead to impaired immunity resulting in an increased risk of infections due to viruses, bacteria, fungi, and protozoa.

Antiplatelet treatment for prevention of cerebrovascular events in patients with vascular diseases: a systematic review and meta-analysis.

Background And Purpose: The efficacy and safety of different antiplatelet regimes for prevention of stroke in patients at high risk were investigated in a systematic review and meta-analysis.

Methods: We searched the Cochrane Central Register of Controlled Trials, MEDLINE, and Web of Science. Twenty-two studies comprising 173 371 patients were included.

Mixed treatment comparison of a two-compound formulation (TCF) product containing calcipotriol and betamethasone dipropionate with other topical treatments in psoriasis vulgaris.

Objective: The efficacy of the two-compound formulation (TCF) product containing calcipotriol and betamethasone dipropionate applied once daily in psoriasis has been demonstrated in phase III trials but no randomised clinical trial comparing all commonly used topical treatments exists. The aim of the study was to compare the efficacy of once-daily use of the TCF product relative to other commonly used topical agents in plaque psoriasis.

Research Design And Methods: Data on change in Psoriasis Area and Severity Index (PASI) score from baseline and PASI 75 (percentage of patients achieving a 75% reduction in PASI score), after 4 weeks of treatment were obtained by means of a systematic literature review of randomised controlled trials and synthesised with a Bayesian mixed treatment comparison meta-analysis.

A new scalp formulation of calcipotriol plus betamethasone dipropionate compared with each of its active ingredients in the same vehicle for the treatment of scalp psoriasis: a randomized, double-blind, controlled trial.

Background: There is a need for new treatments for scalp psoriasis, as many topical treatments are cosmetically unacceptable and difficult to apply, resulting in poor compliance.

Objectives: To compare the efficacy and safety of a new, once-daily, two-compound scalp formulation (Xamiol; LEO Pharma A/S, Ballerup, Denmark) containing calcipotriol 50 microg g(-1) plus betamethasone 0.5 mg g(-1) (as dipropionate), with the active ingredients as single compounds in the same vehicle.

Brugada syndrome during physical therapy: a case report.

This case report describes about a young, male patient with persisting syncope during physical therapy for complex regional pain syndrome type 1 after metatarsal fractures.The patient was referred to the Emergency Department, where Brugada syndrome was diagnosed. A cardioverter defibrillator was prophylactically implanted successfully.

Intraosseous schwannoma (neurilemmoma) of the cervical spine.

Purpose: To report on an extremely rare tumour located in the cervical spine, its treatment and result. Review of the literature.

Patient: Case report of a 38-year-old woman with an intraosseous schwannoma of the cervical spine.

Magnetic resonance imaging of urinary bladder cancer.

The treatment and prognosis of urinary bladder cancer are largely determined by the tumour stage and the presence or not of metastases. Magnetic resonance imaging and clinical staging complement each other. Magnetic resonance imaging is the most accurate technique for differentiating the various stages of deep tumour infiltration and for detecting metastases, whereas clinical staging is the best technique for differentiating between post-biopsy effects and the various stages of superficial tumours.

Shiga toxin-1 affects nitric oxide production by human glomerular endothelial and mesangial cells.

Acute renal failure hallmarks the pathogenesis of the epidemic form of hemolytic uremic syndrome (D+HUS), which is caused by E. coli strains that produce Shiga-like toxin (Stx). In this study, we investigated the influence of Stx-1 on nitric oxide (NO) production by human glomerular microvascular endothelial cells (GMVEC) and human mesangial cells.

Consistent control of psoriasis by continuous long-term therapy: the promise of biological treatments.

Psoriasis is a chronic, incurable disease that frequently requires long-term treatment. Although many patients benefit from effective traditional systemic therapies, namely methotrexate, cyclosporin, retinoids and fumaric acid esters, and some patients achieve long-term disease control, unrestricted long-term administration is not recommended due to the potential for cumulative toxicity. In order to diminish the risk of toxicity, physicians have adopted various treatment approaches (e.

Cardiac-synchronized gadolinium-enhanced MR angiography: preliminary experience for the evaluation of the thoracic aorta.

Gadolinium (Gd)-enhanced three-dimensional breath-hold magnetic resonance cardiac-synchronized angiography was performed in 13 patients suspected or known to have thoracic aortic disease. High-quality angiograms of the ascending/descending thoracic aorta and coronary arteries were obtained with this method. MR angiograms were compared with Gd-enhanced angiograms obtained without cardiac synchronization.

Voriconazole (Pfizer ltd).

Voriconazole is undergoing phase III trials by Pfizer as a potential treatment for resistant systemic aspergillosis, candidosis and other emerging fungal infections seen in immunocompromised patients [201603,320737]. The compound demonstrated efficacy in patients in whom amphotericin had failed to control infection [167646]. Voriconazole is effective and well-tolerated in the treatment of neutropenic patients with acute invasive aspergillosis [187877], non-neutropenic patients with chronic invasive aspergillosis [187878] and HIV patients with oropharyngeal candidiasis [187866].

Recommendations for the topical treatment of psoriasis.

Several topical treatments are available for patients with psoriasis. Although individualization of the treatment remains important, there is a need for treatment recommendations to identify the best treatment out of the available treatments and to help with improvement in treatment compliance. In this communication we give our views on the assessment of severity of psoriasis.

Mechanism of bone incorporation of beta-TCP bone substitute in open wedge tibial osteotomy in patients.

A histological study was performed of bone biopsies from 16 patients (17 biopsies) treated with open wedge high tibial osteotomies for medial knee osteoarthritis. The open wedge osteotomies were filled with a wedge of osteoconductive beta tricalcium phosphate (beta-TCP) ceramic bone replacement. At the time of removal of the fixation material, core biopsies of the area where the beta-TCP was located were taken at different follow-up periods (6-25 months).

A two-compound product containing calcipotriol and betamethasone dipropionate provides rapid, effective treatment of psoriasis vulgaris regardless of baseline disease severity.

Background: A two-compound product containing calcipotriol and betamethasone dipropionate (Daivobet/Dovobet) has been evaluated in a large clinical trial programme, providing a wealth of data on the treatment of psoriasis vulgaris.

Objective: To determine the effectiveness of the two-compound product in patients with mild, moderate and severe psoriasis vulgaris.

Methods: Data from over 1,534 patients with psoriasis vulgaris who received the two-compound product once daily for at least 4 weeks in four randomised, double-blind studies were pooled.

External Quality Assessment in The Netherlands: time to introduce commutable survey specimens. Lessons from the Dutch "Calibration 2000" project.

The performance of suitable secondary reference material for the use of trueness control of six routinely measured clinical enzymes in the Dutch External Quality Assessment (EQA) scheme is described. The reference material of choice was selected using the split-patient-sample between-field method (twin study) design as described in an earlier study of the Calibration 2000 project in The Netherlands. This material, which was proven to be commutable for all wet chemistry systems, was implemented as the national enzyme calibrator.

Maternal nonpregnant vascular function correlates with subsequent fetal growth.

Objective: Evidence is accumulating that fetal growth is influenced by preexisting maternal disorder(s) hampering endothelial function. We tested the hypothesis that in nonpregnant normotensive, formerly preeclamptic women, vascular function predicts the development of fetal growth restriction.

Methods: In 60 formerly preeclamptic women, we measured central hemodynamic and vascular and clotting function mid follicular phase during the menstrual cycle.