Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using the MatchMaker Exchange, we assembled a cohort of 27 individuals with rare, protein-altering variation in the transcriptional coregulator ZMYM3, located on the X chromosome. Most (n = 24) individuals were males, 17 of which have a maternally inherited variant; six individuals (4 male, 2 female) harbor de novo variants.

MRI Assessment of Sacroiliitis With High-Resolution Protocol.

Sacroiliac (SI) joint subchondral resorption on high-resolution magnetic resonance imaging (MRI) may be an early sign of the development of sacroiliitis. At our institution, high-resolution intermediate-weighted (proton density) MRI sequences are used in the workup of suspected spondyloarthritis (SpA). : We sought to test the hypothesis that SI joint subchondral resorption might be a useful MRI feature in the diagnosis of sacroiliitis.

Is zeaxanthin needed for desiccation tolerance? Sustained forms of thermal dissipation in tolerant versus sensitive bryophytes.

Desiccation tolerant (DT) plants engage and disengage sustained forms of energy dissipation in response to desiccation and rehydration. This project sought to characterize the role of zeaxanthin and thylakoid protein phosphorylation status in sustained energy dissipation during desiccation in bryophytes with varying DT. Tolerant (Polytrichum piliferum, Dicranum species, Calliergon stramineum) and sensitive (Grimmia species, Schistidium rivulare, Sphagnum species) moss were desiccated in darkness or natural light conditions for up to three weeks.

Ultrasound-Guided Biceps Tendon Sheath Injection: Spectrum of Preprocedure Appearances.

Objectives: To determine the frequency of ultrasound (US) appearances of the extra-articular long head of the proximal biceps tendon in patients referred for US-guided biceps tendon sheath injections.

Methods: We reviewed our US-guided biceps tendon sheath injections between January 2015 and December 2017, noting the appearance of the biceps tendon and sheath, as well as the needle size used, and what was injected. Clinical electronic medical records were also reviewed to determine safety and patients' responses.

What is the Diagnostic Accuracy of MRI for Component Loosening in THA?

Background: Implant loosening is a common cause of reoperation after THA. Plain radiographs have been the default modality to evaluate loosening, although radiographs provide a relatively insensitive assessment of integration; cross-sectional modalities may provide a more detailed evaluation but traditionally have suffered from metal-related artifacts. We sought to determine whether MRI is capable of reliably detecting operatively confirmed component loosening in patients after hip arthroplasty.

Pseudoaneurysm after total knee arthroplasty: imaging findings in 7 patients.

Objective: To describe the clinical presentation of arterial pseudoaneurysms following total knee arthroplasty (TKA) and their diagnostic imaging features on ultrasound and magnetic resonance angiography (MRA) in 7 patients.

Materials And Methods: A search of our radiology report database from 2007 to 2017 yielded 7 patients with a pseudoaneurysm diagnosed by imaging after TKA. Clinical notes and imaging were reviewed.

Advanced MRI Techniques for the Hip Joint: Focus on the Postoperative Hip.

Objective: Imaging the hip joint with optimized MRI protocol parameters provides the radiologist with the ability to reliably diagnose complex hip abnormalities. The institution of appropriate metal artifact reduction techniques and dedicated sequences can enhance visualization of the periprosthetic bone and soft tissues and allow improved detection of the more frequently encountered total hip arthroplasty-related conditions, such as mechanical loosening, polyethylene wear, and adverse local tissue reactions.

Conclusion: Finally, through the use of dynamic contrast-enhanced MRI, abnormal femoral head perfusion, one of the most common complications associated with femoral neck fracture internal fixation, can be detected before the development of femoral head osteonecrosis, subchondral collapse, and secondary osteoarthritis.

Clues to vascular disorders at non-contrast CT of the chest, abdomen, and pelvis.

Non-contrast chest CT scans are commonly performed while CT scans of the abdomen and pelvis are performed in a select subset of patients; those with limited renal function, an allergy to iodinated contrast, in the setting of suspected renal calculus, retroperitoneal hematoma, common duct calculus, abdominal aortic aneurysm with or without rupture, and in patients undergoing a PET-CT scan. In the absence of intravenous contrast, vascular structures may prove challenging to evaluate, yet their assessment is an important component of every non-contrast CT examination. We describe the key imaging features of both arterial and venous pathology, and review clues and common associated non-vascular findings, which can help the radiologist identify vascular disorders at non-contrast CT.

Rupture of the short head component of a bifurcated distal biceps tendon.

Background: Rupture of the short head component of a bifurcated distal biceps tendon is a rare injury that may be difficult to diagnose and to treat.

Methods: Three cases of patients with selective disruption of the short head of the biceps distal tendon from a single institution are reported. The presenting history, physical examination, imaging studies, operative findings, and treatment strategies are described.

Imaging of Musculoskeletal Infection.

Diagnostic imaging plays a crucial role in confirming the diagnosis of musculoskeletal (MSK) infection and determining the severity and extent of disease. The clinical diagnosis may be challenging due to the nonspecific presentation of pain and swelling. There are certain features that are pathognomonic for infection.

Imaging of Inflammatory Arthritis in Adults: Status and Perspectives on the Use of Radiographs, Ultrasound, and MRI.

The term inflammatory arthritis encompasses a variety of conditions featuring synovial inflammation as a defining characteristic, with resultant local tissue damage occurring over time. These arthritides often share overlapping clinical and imaging characteristics, although the pattern of joint involvement, specific appearance of pathologic changes, and associated findings often allow imaging-based differentiation or individual arthritides.