Search results for "ddc:6"

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

2021

Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. METHODS: Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. RESULTS: Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidi…

No Benefit of a Pediatric Screening in Discovering Reduced Visual Acuity in Children: Experiences from a Cross-Sectional Study in Germany

2020

Background: The newly introduced German pediatric screening examination at the end of the third year of life (U7a) incorporates visual function testing in particular

B. Zinka et al., Unexplained cases of sudden infant death shortly after hexavalent vaccination

2006

The Human Leukocyte Antigen-DPB1 Degree of Compatibility Is Determined by Its Expression Level and Mismatch Permissiveness: A German Multicenter Anal…

2021

T-cell epitope matching according to the TCE3 algorithm classifies HLA-DPB1 mismatches in permissive and non-permissive. This classification has been shown to be predictive for mortality and acute GvHD (aGvHD) events in large international cohorts. We retrospectively genotyped HLA-DPB1 in 3523 patients transplanted in Germany between 2000 and 2014 and in their unrelated donors using an Illumina amplicon-NGS based assay. Aim of the study was to evaluate DP-compatibility beyond the established TCE3 algorithm by assessing the combined effect of several DP-mismatch parameters on post-transplant outcome. We implemented an extended DP-mismatch assessment model where TCE3, DP allotype expression w…

Transient Receptor Potential Channel Polymorphisms Are Associated with the Somatosensory Function in Neuropathic Pain Patients

2011

Transient receptor potential channels are important mediators of thermal and mechanical stimuli and play an important role in neuropathic pain. The contribution of hereditary variants in the genes of transient receptor potential channels to neuropathic pain is unknown. We investigated the frequency of transient receptor potential ankyrin 1, transient receptor potential melastin 8 and transient receptor potential vanilloid 1 single nucleotide polymorphisms and their impact on somatosensory abnormalities in neuropathic pain patients. Within the German Research Network on Neuropathic Pain (Deutscher Forscbungsverbund Neuropathischer Schmerz) 371 neuropathic pain patients were phenotypically ch…

Oral health-related quality of life and clinical outcomes of immediately or delayed loaded implants in the rehabilitation of edentulous jaws: A retro…

2018

Background Patient-centered outcomes are being given great attention by the dental scientific community. The Oral Health Impact Profile -14 questionnaire (OHIP-14) has been introduced to address patients' success criteria when describing the impact of oral rehabilitations on quality of life (OHrQoL). Methods Thirty-five patients wearing a full-arch implant-prosthesis being in place between 4 and 6 years before this analysis were considered eligible and then enrolled in the present retrospective study. According to their prosthetic anamnesis, two groups were defined: delayed loading group (IL-group) and immediate loading group (IL-group). At the moment of analysis, clinical and radiographic …

GDF-15 predicts cardiovascular events in acute chest pain patients

2017

Background Treatment of patients presenting with possible acute myocardial infarction (AMI) is based on timely diagnosis and proper risk stratification aided by biomarkers. We aimed at evaluating the predictive value of GDF-15 in patients presenting with symptoms suggestive of AMI. Methods Consecutive patients presenting with suspected AMI were enrolled in three study centers. Cardiovascular events were assessed during a follow-up period of 6 months with a combined endpoint of death or MI. Results From the 1818 enrolled patients (m/f = 1208/610), 413 (22.7%) had an acute MI and 63 patients reached the combined endpoint. Patients with MI and patients with adverse outcome had higher GDF-15 le…

Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease.

2017

Background Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature. Objective To examine hearing loss in patients with FD depending on cardiac and renal function. Material and methods Single-center study with 68 FD patients enrolled between 2012 and 2016 at the Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconst…

Which functional tasks present the largest deficits for patients with total hip arthroplasty before and six months after surgery? A study of the time…

2021

Six to eight months after total hip arthroplasty, patients only attain 80% of the functional level of control groups. Understanding which functional tasks are most affected could help reduce this deficit by guiding rehabilitation towards them. The timed up-and-go test bundles multiple tasks together in one test and is a good indicator of a patient’s overall level of function. Previously, biomechanical analysis of its phases was used to identify specific functional deficits in pathological populations. To the best of our knowledge, this analysis has never been performed in patients who have undergone total hip arthroplasty. Seventy-one total hip arthroplasty patients performed an instrumente…

Switching between persistent firing and depolarization block in individual rat CA1 pyramidal neurons

2018

The hippocampal formation plays a role in mnemonic tasks and epileptic discharges in vivo. In vitro, these functions and malfunctions may relate to persistent firing (PF) and depolarization block (DB), respectively. Pyramidal neurons of the CA1 field have previously been reported to engage in either PF or DB during cholinergic stimulation. However, it is unknown whether these cells constitute disparate populations of neurons. Furthermore, it is unclear which cell-specific peculiarities may mediate their diverse response properties. However, it has not been shown whether individual CA1 pyramidal neurons can switch between PF and DB states. Here, we used whole cell patch clamp in the current …