Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity.

We identified two NEXMIF variants in two unrelated individuals with non-autoimmune diabetes and autistic traits, and investigated the expression of Nexmif in mouse and human pancreas and its function in pancreatic beta cells in vitro and in vivo. In insulin-secreting INS-1E cells, Nexmif expression increased strongly in response to oxidative stress. CRISPR Cas9-generated Nexmif knockout mice exhibited a reduced number of proliferating beta cells in pancreatic islets.

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Background: Gain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to protein-induced HI and elevated plasma ammonia levels. These symptoms may be accompanied by seizures and mental retardation.

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.

Objective: When diabetes is associated with congenital malformations, without autoimmune antibodies, a genetic cause is suspected. Here, we aimed to identify a defective gene that led to diabetes.

Research Design And Methods: We performed an exome analysis of an index case and his healthy parents.

Perforator-based flaps for the treatment of burn scar contractures: a review.

Patients with burn scars often experience functional problems because of scar contractures. Surgical treatment may be indicated for those burn scar contractures. If the contractures are small and linear, the contraction bands can be treated with local transposition flaps like the Z-plasty.

Assessing blood flow, microvasculature, erythema and redness in hypertrophic scars: A cross sectional study showing different features that require precise definitions.

Background: In hypertrophic scar assessment, laser Doppler imaging (LDI), colorimetry and subjective assessment (POSAS) can be used to evaluate blood flow, erythema and redness, respectively. In addition, the microvasculature (i.e.

Perforator-Based Interposition Flaps Perform Better Than Full-Thickness Grafts for the Release of Burn Scar Contractures: A Multicenter Randomized Controlled Trial.

Background: Burn scar contractures remain a significant problem for the severely burned patient. Reconstructive surgery is often indicated to improve function and quality of life. Skin grafts (preferably full-thickness grafts) are frequently used to cover the defect that remains after scar release.

Analyzing contraction of full thickness skin grafts in time: Choosing the donor site does matter.

Background: In reconstructive burn surgery full thickness skin grafts (FTSGs) are frequently preferred over split thickness skin grafts because they are known to provide superior esthetic results and less contraction. However, the contraction rate of FTSGs on the long term has never been studied.

Methods: The surface area of FTSGs of consecutive patients was measured during surgery and at their regular follow up (at approximately 1, 6,13 and 52 weeks postoperatively) by means of 3D-stereophotogrammetry.

The application of platelet-rich plasma in the treatment of deep dermal burns: A randomized, double-blind, intra-patient controlled study.

Platelet-rich plasma (PRP) is a fraction of blood with a platelet concentration above baseline. When platelets get activated, growth factors involved in wound healing are released. The application of PRP has shown good results in wound care, however, up to date no substantial research has been performed on the effect of PRP in burn treatment.

Three-dimensional imaging: a novel, valid, and reliable technique for measuring wound surface area.

Purpose: The aim of this study was to investigate the validity and reliability of a novel three-dimensional imaging technique using Artec MHT 3D Scanner for measuring the wound surface area.

Methods: The validity was tested by measuring the surface area of 60 stickers (gold standard) on 20 volunteers. Stickers with standardized areas of 2590, 7875, and 15,540 mm were applied on the thorax, forearm, and thigh, respectively.

Genetic Defects of the β-Cell That Cause Diabetes.

Individuals with higher-than-normal blood sugar levels used to be diagnosed as having either type 1 or type 2 diabetes. We now know that a wide range of different factors can cause diabetes, including single gene defects, which account for at least 1% of all diabetes cases and up to 4% of cases in the pediatric population. However, misdiagnosis remains common due to the considerable clinical overlap between the different diabetes forms.

Cost-Effectiveness of Laser Doppler Imaging in Burn Care in The Netherlands: A Randomized Controlled Trial.

Background: In patients with burns, an early accurate diagnosis of burn depth facilitates optimal treatment. Laser Doppler imaging combined with clinical assessment leads to an accurate estimate of burn depth. However, the actual effects of the introduction of laser Doppler imaging on therapeutic decisions, clinical outcomes, and costs are unknown.

In a clinimetric analysis, 3D stereophotogrammetry was found to be reliable and valid for measuring scar volume in clinical research.

Objectives: Volume is an important feature in the evaluation of hypertrophic scars and keloids. Three-dimensional (3D) stereophotogrammetry is a noninvasive technique for the measurement of scar volume. This study evaluated the reliability and validity of 3D stereophotogrammetry for measuring scar volume.

Dynamic in vivo evaluation of radiocarpal contact after a 4-corner arthrodesis.

Purpose: To understand the mechanisms that preserve joint integrity after 4-corner arthrodesis (FCA).

Methods: We investigated the long-term changes of the radiolunate articulation after an FCA for different motions of the wrist in a cross-sectional study that included wrists of 10 healthy participants and both operated and nonoperated wrists of 8 individuals who had undergone FCA on 1 side. The average postoperative follow-up period of the FCA group was 5.

A systematic review on burn scar contracture treatment: searching for evidence.

Treating burn scar contracture remains a challenging problem for reconstructive surgeons. At present, no consensus exists on when to use what kind of technique. Therefore, a systematic review was performed on the effectiveness of the different surgical techniques after burn scar contracture release.

The hand held Doppler device for the detection of perforators in reconstructive surgery: what you hear is not always what you get.

Background: Perforator-based flaps have become indispensable in the treatment of burn scars. Pre-operative perforator mapping is often performed by use of the hand held Doppler device, partly due to its convenience and the low costs. We expected to find sufficient evidence in literature to support the use of the device, however available literature showed a distinct lack of clinimetric studies that adequately tested the reliability.

Reconstructive surgery after burns: a 10-year follow-up study.

Background: There is minimal insight into the prevalence of reconstructive surgery after burns. The objective of this study was to analyse the prevalence, predictors, indications, techniques and medical costs of reconstructive surgery after burns.

Methods: A retrospective cohort study was conducted in the three Dutch burn centres.

Three-dimensional digital stereophotogrammetry: a reliable and valid technique for measuring scar surface area.

Background: The surface area of scars is an important outcome parameter in scar assessment. It is often used to quantify the extent of scar features, such as pigmentation disturbances, hypertrophy, and contracture. Currently available techniques for measuring the surface area are known to be cumbersome or do not meet the basic clinimetric criteria (i.

Cost-effectiveness of laser Doppler imaging in burn care in the Netherlands.

Background: Early accurate assessment of burn depth is important to determine the optimal treatment of burns. The method most used to determine burn depth is clinical assessment, which is the least expensive, but not the most accurate.Laser Doppler imaging (LDI) is a technique with which a more accurate (>95%) estimate of burn depth can be made by measuring the dermal perfusion.

Perforator-based interposition flaps for sustainable scar contracture release: a versatile, practical, and safe technique.

Background: Problematic scar contractures are frequently observed following extensive (burn) wounds. In this study, the authors investigated the applicability of islanded and nonislanded perforator-based interposition flaps as a technique for release of scar contracture.

Methods: Patients requiring surgery for scar contracture release were included.

The effect of tendon loading on in-vitro carpal kinematics of the wrist joint.

Measurements of in-vitro carpal kinematics of the wrist provide valuable biomechanical data. Tendon loading is often applied during cadaver experiments to simulate natural stabilizing joint compression in the wrist joint. The purpose of this study was to investigate the effect of tendon loading on carpal kinematics in-vitro.