Developmental milestones in captive Galago moholi.

Systems of the body develop in a modular manner. For example, neural development in primates is generally rapid, whereas dental development varies much more. In the present study, we examined development of the skull, teeth, and postcrania in a highly specialized leaping primate, Galago moholi.

A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).

Background: Bi-allelic variants in AFG2B (previously known as SPATA5L1) have recently been associated with a neurodevelopmental disorder with hearing loss and spasticity, as well as isolated hearing loss. We report on a 6 1/2-year-old girl with a history of global developmental delay, subsequent intellectual disability without relevant language acquisition, sensorineural hearing loss, muscular hypotonia and microcephaly.

Methods: We performed trio exome sequencing on the patient and her parents.

Integration of Inkjet Printed Graphene as a Hole Transport Layer in Organic Solar Cells.

This work demonstrates the green production of a graphene ink for inkjet printing and its use as a hole transport layer (HTL) in an organic solar cell. Graphene as an HTL improves the selective hole extraction at the anode and prevents charge recombination at the electronic interface and metal diffusion into the photoactive layer. Graphite was exfoliated in water, concentrated by iterative centrifugation, and characterized by Raman.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations.

Background: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far.

Methods: As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals.

Cervical spine injuries in spinal ankylosing disorders: results of single-stage posterior stabilization without posterolateral fusion.

Patients with long-segment cervical spinal fusion resulting from spinal ankylosing disorders (SADs) are at high risk for highly unstable cervical spine fractures necessitating surgery as the treatment of choice; however, without an existing gold standard. Specifically, patients without concomitant myelo- pathy, representing a rare entity, may benefit from a minimized surgical approach of a single-stage posterior stabilization without bone grafting for posterolateral fusion. This retrospective monocenter study in a Level I trauma center included all patients treated with navigated posterior stabilization without posterolateral bone grafting between January 2013 and January 2019 for cervical spine fractures in preexisting SADs without myelopathy.

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Objectives: To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses.

Methods: We recruited 51 fetuses with two or more defects, non-immune fetal hydrops or fetal akinesia deformation syndrome|or fetal akinesia deformation sequence (FADS). Trio exome sequencing was performed on DNA from chorionic villi samples and parental blood.

Bi-allelic loss-of-function variants in cause severe fetal akinesia with arthrogryposis multiplex.

Background: Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the set of genes involved.

Clinical and patient reported outcome in total ankle replacement compared to ankle fusion in end-stage haemophilic arthropathy.

Background: Ankle arthropathy is a frequent complication of haemophilia, reducing the patients' quality of life. Despite intensive conservative therapy, end-stage arthropathy requires surgical treatment, either by ankle fusion (AF) or total ankle replacement (TAR).

Methods: Eleven consecutive AFs were performed in nine patients and 11 TARs were implemented in 10 patients.

P-type cobaltite oxide spinels enable efficient electrocatalytic oxygen evolution reaction.

Currently, energy-efficient electrocatalytic oxygen evolution from water involves the use of noble metal oxides. Here, we show that highly p-conducting zinc cobaltite spinel ZnCoO offers an enhanced electrocatalytic activity for oxygen evolution. We refer to previous studies on sputtered Zn-Co spinels with optimized conductivity for implementation as (p-type) transparent conducting oxides.

Evaluation of the Feasibility of a Telemedical Examination of the Hip and Pelvis - Early Lessons from the COVID-19 Pandemic.

Introduction: Due to the current COVID-19 pandemic, the German Health Ministry has issued restrictions applying to the field of orthopaedics and trauma surgery. Besides postponement of elective surgeries, outpatient consultations have been drastically reduced. Parallel to these developments, an increase in telemedical consultations has reflected efforts to provide sufficient patient care.

A Feasibility Pilot Study on the Use of Telemedicine for the Examination of the Knee Joint.

Background: In times of a pandemic threat, such as COVID-19, and the need for reduced direct doctor-patient contact, internet-based telemedicine has attracted more and more attention as a surrogate service. Suspending the diagnosis and treatment of non-virus related diseases for longer periods of time is not a viable option since this would only exacerbate problems on the patient and national level. The need for alternative treatment modalities increased rather quickly.

Basic Clinical Examination of the Foot and Ankle.

Successful treatment of foot and ankle diseases requires an accurate diagnosis. In addition to differentiated history taking, clinical examination is the most important component in the diagnosis of foot and ankle diseases. The present video explains the common provocation tests and functional tests that are used in the basic clinical examination of the foot and ankle complex.

Feasibility study of preoperative microvessel evaluation and characterization in perforator flaps using various modes of color-coded duplex sonography (CCDS).

Background: Color-coded duplex sonography (CCDS) is useful for perforator flap design showing the highest sensitivity in identifying microvessels. This prospective study evaluates the feasibility of different ultrasound (US) modes applied by the microsurgeon in daily practice suggesting quantifiable reference values.

Methods: Twenty-four patients aged between 17 and 68 years (mean 43.

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.

Recombinant chromosome 8 (Rec8) syndrome (San Luis Valley [SLV] syndrome; OMIM #179613) is a rare chromosome disorder associated with intellectual disability, congenital heart defects, variable skeletal and urogenital anomalies, and dysmorphic features. It is characterized by a partial terminal deletion of 8p and a partial terminal duplication of 8q, which is usually due to meiotic recombination of a pericentric inversion of chromosome 8 of a healthy carrier parent. There are only few reports of cases with breakpoints defined at the molecular level by molecular karyotyping.

[Reconstruction of tibial metaphyseal defects with artificial components in revision arthroplasty (GenuX MK System)].

Objective: Restoration of knee function by using tibial metaphyseal components in advanced metaphyseal bone defects after multiple bone-damaging revision surgery on the knee joint.

Indications: Advanced tibial metaphyseal bone defects (Anderson Orthopaedic Research Institute [AORI] IIb and III defects) in revision arthroplasty of the knee joint.

Contraindications: Persistent or current joint infection, general infection (e.

Author Correction: Rapid and Precise Semi-Automatic Axon Quantification in Human Peripheral Nerves.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Rapid and Precise Semi-Automatic Axon Quantification in Human Peripheral Nerves.

We developed a time-efficient semi-automated axon quantification method using freeware in human cranial nerve sections stained with paraphenylenediamine (PPD). It was used to analyze a total of 1238 facial and masseteric nerve biopsies. The technique was validated by comparing manual and semi-automated quantification of 129 (10.

Characterization of synovial fluid from periprosthetic infection in revision total joint arthroplasty by single-molecule microscopy.

Periprosthetic joint infection is among the most common and severe complications in total joint arthroplasty. Today, a combination of different methods is used for diagnosis because no single method with sufficient sensitivity and specificity is available. In this study, we explored the usability of single-molecule microscopy to characterize synovial fluid samples from periprosthetic joint infections.

Novel Variants in Patients with Intellectual Disability.

Intellectual disability (ID) occurs in approximately 1% of the population. Over the last years, broad sequencing approaches such as whole exome sequencing (WES) substantially contributed to the definition of the molecular defects underlying nonsyndromic ID. Pathogenic variants in , which encodes the human immunodeficiency virus type I enhancer binding protein 2, have recently been reported as a cause of ID, developmental delay, behavioral disorders, and dysmorphic features.

Significance of the Marginal Mandibular Branch in Relation to Facial Palsy Reconstruction: Assessment of Microanatomy and Macroanatomy Including Axonal Load in 96 Facial Halves.

Background: The marginal mandibular branch (MMB) of the facial nerve provides lower lip symmetry apparent during human smile or crying and is mandatory for vocal phonation. In treating facial palsy patients, so far, little attention is directed at the MMB in facial reanimation surgery. However, isolated paralysis may occur congenital, in Bell's palsy or iatrogenic during surgery, prone to its anatomical course.

An Analysis of Aesthetic Refinements in 120 Secondary Cleft Rhinoplasties.

Background: Secondary cleft nose rhinoplasty remains a challenging procedure. Cartilage memory and scar contraction are problematic factors. The need for more detailed procedures for secondary reconstruction in this patient population has arisen.

Soft Tissue Sarcoma - a Current Review of the Diagnostic and Treatment Strategies.

Soft tissue sarcomas are a heterogeneous group of neoplasias that due to their often clinically silent appearance often remain undetected or experience delayed treatment. Especially soft tissue swelling is often misinterpreted by patients and doctors and trivialized or verified with an incorrect biopsy technique. The hereby evoked complications for the patients are serious and may be reduced by simply following the available guidelines.