Patient-Specific Guides for Accurate and Precise Positioning of Osseointegrated Implants in Transfemoral Amputations: A Proof-of-Concept In Vitro Study.

: The treatment of transfemoral amputees using osseointegrated implants for prosthetic anchorage requires accurate implant positioning when using threaded bone-anchoring implants due to the curvature of the femur and the risk of cortical penetration in misaligned implants. This study investigated the accuracy and precision in implant positioning using additively manufactured case-specific positioning guides. : The geometry and density distribution of twenty anatomic specimens of human femora were assessed in quantitative computed tomography (QCT) scanning.

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing. We identified a homozygous missense mutation in SEC16B in a child with vertebral fractures, leg bowing, short stature, muscular hypotonia, and bone densitometric and histomorphometric features in keeping with OI with distinct ultrastructural features. In line with the putative function of SEC16B as a regulator of trafficking between the ER and the Golgi complex, we showed that patient fibroblasts accumulated type I procollagen in the ER and exhibited a general trafficking defect at the level of the ER.

Effect of shape and size of supraspinatus tears on rotator cuff strain distribution: an in vitro study.

Background: The impact of the size and shape of a supraspinatus tear on the strain of the intact rotator cuff and the kinematics of the shoulder is still unknown. This, however, can be relevant when deciding whether surgical reconstruction is required to prevent an increase in a tendon defect. In this study, the effect of tear width and shape on rotator cuff strain and glenohumeral kinematics was evaluated during active abduction.

PDGFRβ promotes oncogenic progression via STAT3/STAT5 hyperactivation in anaplastic large cell lymphoma.

Background: Anaplastic large cell lymphoma (ALCL) is an aggressive non-Hodgkin T cell lymphoma commonly driven by NPM-ALK. AP-1 transcription factors, cJUN and JUNb, act as downstream effectors of NPM-ALK and transcriptionally regulate PDGFRβ. Blocking PDGFRβ kinase activity with imatinib effectively reduces tumor burden and prolongs survival, although the downstream molecular mechanisms remain elusive.

Thermal Effects during Bone Preparation and Insertion of Osseointegrated Transfemoral Implants.

Background: The preparation of bone for the insertion of an osseointegrated transfemoral implant and the insertion process are performed at very low speeds in order to avoid thermal damages to bone tissue which may potentially jeopardize implant stability. The aim of this study was to quantify the temperature increase in the femur at different sites and insertion depths, relative to the final implant position during the stepwise implantation procedure.

Methods: The procedure for installation of the osseointegrated implant was performed on 24 femoral specimens.

Telocytes in the human ascending aorta: Characterization and exosome-related KLF-4/VEGF-A expression.

Telocytes (TCs), a novel interstitial cell entity promoting tissue regeneration, have been described in various tissues. Their role in inter-cellular signalling and tissue remodelling has been reported in almost all human tissues. This study hypothesizes that TC also contributes to tissue remodelling and regeneration of the human thoracic aorta (HTA).

Experimental study of an implantable fiber-optic microphone on human cadavers.

In this paper, we present the results of an experimental study about a novel fiber optical vibrometer, aimed to be used as a totally implantable fiber-optic microphone for hearing aids. The sensor head, implanted inside the human cadaver middle ear, detects the amplitude of the incus vibrations, which are produced by an external acoustical source. The probe beam of coherent vertical cavity surface emitting laser (VCSEL) radiation is directed to the incus and the phase-modulated reflected beam is captured and demodulated.

Poly(ADP-ribose) glycohydrolase coordinates meiotic DNA double-strand break induction and repair independent of its catalytic activity.

Poly(ADP-ribosyl)ation is a reversible post-translational modification synthetized by ADP-ribose transferases and removed by poly(ADP-ribose) glycohydrolase (PARG), which plays important roles in DNA damage repair. While well-studied in somatic tissues, much less is known about poly(ADP-ribosyl)ation in the germline, where DNA double-strand breaks are introduced by a regulated program and repaired by crossover recombination to establish a tether between homologous chromosomes. The interaction between the parental chromosomes is facilitated by meiotic specific adaptation of the chromosome axes and cohesins, and reinforced by the synaptonemal complex.

Single-stage bone resection and cranioplastic reconstruction: comparison of a novel software-derived PEEK workflow with the standard reconstructive method.

The combined resection of skull-infiltrating tumours and immediate cranioplastic reconstruction predominantly relies on freehand-moulded solutions. Techniques that enable this procedure to be performed easily in routine clinical practice would be useful. A cadaveric study was developed in which a new software tool was used to perform single-stage reconstructions with prefabricated implants after the resection of skull-infiltrating pathologies.

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Purpose: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4-hydroxylase (P4HTM), and ubiquitin specific peptidase 4 (USP4). However, the causative gene remained elusive.

Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study.

Background And Purpose: In subjects with agenesis of the corpus callosum, a variety of structural brain alterations is already present during prenatal life. Quantification of these alterations in fetuses with associated brain or body malformations (corpus callosum agenesis and other related anomalies) and so-called isolated cases may help to optimize the challenging prognostic prenatal assessment of fetuses with corpus callosum agenesis. This fetal MR imaging study aimed to identify differences in the size of the prenatal hippocampus between subjects with isolated corpus callosum agenesis, corpus callosum agenesis and other related anomalies, and healthy controls.

Sphingolipid-dependent Dscam sorting regulates axon segregation.

Neurons are highly polarized cells with distinct protein compositions in axonal and dendritic compartments. Cellular mechanisms controlling polarized protein sorting have been described for mature nervous system but little is known about the segregation in newly differentiated neurons. In a forward genetic screen for regulators of Drosophila brain circuit development, we identified mutations in SPT, an evolutionary conserved enzyme in sphingolipid biosynthesis.

Recommendations of the working group of the Anatomische Gesellschaft on reduction of formaldehyde exposure in anatomical curricula and institutes.

The practice of human and veterinary medicine is based on the science of anatomy and dissection courses are still irreplaceable in the teaching of anatomy. Embalming is required to preserve body donors, for which process formaldehyde (FA) is the most frequently used and well characterized biocidal substance. Since January 2016, a new occupational exposure limit (OEL) for FA of 0.

The dermal arteries in the cutaneous angiosome of the descending genicular artery.

Studies examining thick skin of the thumb pad have challenged the existence of an arterial plexus in the papillary dermis. Instead of a plexus, discrete arterial units, interconnected by arterio-arterial anastomoses, were identified. We hypothesise that the dermal arteries of thin skin are arranged likewise and that there are fewer arterio-arterial anastomoses in the centre of an angiosome than in zones where neighbouring angiosomes overlap.

Evaluation of age-dependent morphometrics of the meniscofemoral ligaments in reference to the posterior cruciate ligament in routine MRI.

Objectives: To quantify the morphological correlation between the posterior cruciate ligament (PCL) and the meniscofemoral ligaments (MFLs), to propose normal ranges for different age populations, and to define guidelines for correct identification and differentiation of MFLs in routine MRI.

Methods: Three hundred forty-two subjects were included retrospectively and subdivided into five age groups. Morphometrics of the PCL and the MFLs were measured on standard MRI in the sagittal, coronal, and axial planes.

The surgical anatomy of the vascularized lateral thoracic artery lymph node flap-A cadaver study.

Background: One promising surgical treatment of lymphedema is the VLNT. Lymph nodes can be harvested from different locations; inguinal, axillary, and supraclavicular ones are used most often. The aim of our study was to assess the surgical anatomy of the lateral thoracic artery lymph node flap.

A staging system for correct phenotype interpretation of mouse embryos harvested on embryonic day 14 (E14.5).

We present a simple and quick system for accurately scoring the developmental progress of mouse embryos harvested on embryonic day 14 (E14.5). Based solely on the external appearance of the maturing forelimb, we provide a convenient way to distinguish six developmental sub-stages.

High-throughput discovery of novel developmental phenotypes.

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts.

Successful Identification and Assessment of the Superior Cluneal Nerves with High-Resolution Sonography.

Background: Low back pain is a disabling and common condition, whose etiology often remains unknown. A suggested, however rarely considered, cause is neuropathy of the medial branch of the superior cluneal nerves (mSCN)-either at the level of the originating roots or at the point where it crosses the iliac crest, where it is ensheathed by an osseo-ligamentous tunnel. Diagnosis and treatment have, to date, been restricted to clinical assessment and blind infiltration with local anesthetics.

Endoscopic anatomy of the skull base explored through the nose.

Objective: Different surgical approaches have been used over the years in order to access skull base. The endoscopic endonasal approach represents a direct and minimally invasive approach to the suprasellar, retrosellar, and retroclival space, with the advantage of avoid brain retraction and visualize safely and effectively the surgical target. The present contribution aims to provide anatomical details of the skull base as seen from below (i.

High-resolution episcopic microscopy (HREM): a useful technique for research in wound care.

Analysing the three-dimensional (3D) texture of skin substitute materials and evaluating their performance after covering skin defects is essential for improving their design and for optimising surgical procedures and post implantation wound treatment regimes. Here we explore the capacities of the recently developed High-resolution episcopic microscopy (HREM) method for generating digital volume data that permit structural 3D analysis of native and implanted collagen-elastin matrices. We employed HREM to visualise native collagen matrices and collagen matrices seeded with keratinocytes.

Phenotyping structural abnormalities in mouse embryos using high-resolution episcopic microscopy.

The arrival of simple and reliable methods for 3D imaging of mouse embryos has opened the possibility of analysing normal and abnormal development in a far more systematic and comprehensive manner than has hitherto been possible. This will not only help to extend our understanding of normal tissue and organ development but, by applying the same approach to embryos from genetically modified mouse lines, such imaging studies could also transform our knowledge of gene function in embryogenesis and the aetiology of developmental disorders. The International Mouse Phenotyping Consortium is coordinating efforts to phenotype single gene knockouts covering the entire mouse genome, including characterising developmental defects for those knockout lines that prove to be embryonic lethal.