Case report: gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.

Biallelic variants in the kaptin gene were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly in language development, behavioral abnormalities, and epilepsy. Only about 15 affected individuals have been described in the literature, all with primary or secondary macrocephaly.

Divergent dynamics of inflammatory mediators and multiplex PCRs during airway infection in cystic fibrosis patients and healthy controls: Serial upper airway sampling by nasal lavage.

Background: In cystic fibrosis (CF), acute respiratory exacerbations critically enhance pulmonary destruction. Since these mainly occur outside regular appointments, they remain unexplored. We previously elaborated a protocol for home-based upper airway (UAW) sampling obtaining nasal-lavage fluid (NLF), which, in contrast to sputum, does not require immediate processing.

Would it have happened without Christmas? Thoracic emphysema and allergic bronchopulmonary aspergillosis in a juvenile cystic fibrosis patient with the G551D mutation receiving ivacaftor.

https://bit.ly/2P96PTy.

Inositol hexakisphosphate increases the size of platelet aggregates.

The inositol phosphates, InsP and InsP, have recently been identified as binding partners of fibrinogen, which is critically involved in hemostasis by crosslinking activated platelets at sites of vascular injury. Here, we investigated the putative physiological role of this interaction and found that platelets increase their InsP concentration upon stimulation with the PLC-activating agonists thrombin, collagen I and ADP and present a fraction of it at the outer plasma membrane. Cone and plate analysis in whole blood revealed that InsP specifically increases platelet aggregate size.

Degrading magnesium screws ZEK100: biomechanical testing, degradation analysis and soft-tissue biocompatibility in a rabbit model.

Magnesium alloys are promising implant materials for use in orthopaedic applications. In the present study, screws made of the Mg-alloy ZEK100 (n = 12) were implanted in rabbit tibiae for four and six weeks, respectively. For degradation analysis, in vivo µ-computed tomography (µCT), a determination of the weight changes and SEM/EDX examinations of the screws were performed.

Comparison of morphological changes in efferent lymph nodes after implantation of resorbable and non-resorbable implants in rabbits.

Background: Magnesium alloys as biodegradable implant materials received much interest in recent years. It is known that products of implant degradation can induce several types of immune response. Hence, the aim of this study was to examine the morphological changes of efferent lymph nodes after implantation of different resorbable magnesium alloys (MgCa0.

Biomechanical testing and degradation analysis of MgCa0.8 alloy screws: a comparative in vivo study in rabbits.

The aim of this study was to compare the biomechanical properties of degradable magnesium calcium alloy (MgCa0.8) screws and commonly used stainless steel (S316L) screws and to assess the in vivo degradation behavior of MgCa0.8.

Evaluation of the soft tissue biocompatibility of MgCa0.8 and surgical steel 316L in vivo: a comparative study in rabbits.

Background: Recent studies have shown the potential suitability of magnesium alloys as biodegradable implants. The aim of the present study was to compare the soft tissue biocompatibility of MgCa0.8 and commonly used surgical steel in vivo.