Sticky stuff: biological cohesion for scour and erosion prevention.

This study examines the potential for biological cohesion to arrest scour erosion at marine infrastructure. Biological cohesion occurs naturally in sedimentary environments, and is caused by extracellular polymeric substances (EPS) which result from the life cycles of microorganisms. EPS is known to dramatically increase the resistance of natural biomediated sediment to erosive hydrodynamic forces.

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant.

A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner's syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.

In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations.

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Background: Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A phenotype of predominantly spinal neurofibromatosis has been identified in a small minority of families with NF1, often in association with a relative or absolute lack of cutaneous manifestations.

Spinal bone defects in neurofibromatosis type I with dural ectasia: stress fractures or dysplastic? A case series.

Objectives: Neurofibromatosis type I (NF1) is a multisystem neurocutaneous disorder with varied musculoskeletal manifestations. Dural ectasia is a known association, whilst pedicular anomalies have been described, although not as frequently as other skeletal manifestations. However, reports of pedicular and other spinal clefts or fractures in combination with dural ectasia in NF1 are scarce.

Critically evaluating the role of diagnostic imaging in osteomyelitis.

Early diagnosis, essential for timely appropriate treatment and reduction of complications, can be difficult. This article aims to give an overview of the role that different imaging modalities have to play in the diagnosis of osteomyelitis. Osteomyelitis is a heterogeneous disease in its pathophysiology, clinical presentation, and management.

The nature of scour development and scour protection at offshore windfarm foundations.

Analysis and interpretation of monitoring data for the seabed bathymetry local to offshore windfarm foundations has shown how the scour develops in time and highlighted variations between sites with different seabed sediment characteristics, i.e. sands and clays.

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.

Hypophosphatasia (HPP) is the inborn error of metabolism characterized by low serum alkaline phosphatase (ALP) activity caused by inactivating mutations within TNSALP, the gene that encodes the "tissue-nonspecific" isoenzyme of ALP (TNSALP). In HPP, extracellular accumulation of inorganic pyrophosphate, a TNSALP substrate, inhibits hydroxyapatite crystal growth leading to rickets or osteomalacia. Chronic recurrent multifocal osteomyelitis (CRMO) is the pediatric syndrome of periarticular pain and radiographic changes resembling infectious osteomyelitis but without lesional pathogens.

Under-reporting of osteoporotic vertebral fractures on computed tomography.

Purpose: Osteoporotic vertebral fractures are frequently asymptomatic. They are often not diagnosed clinically or radiologically. Despite this, prevalent osteoporotic vertebral fractures predict future osteoporotic fractures and are associated with increased mortality and morbidity.

Giant splenic artery aneurysm associated with arteriovenous malformation.

Giant splenic artery aneurysms are extremely rare entities that have important clinical implications. The size and the natural history pose unique challenges in the management of these lesions. We present one such case that was associated with a primary arteriovenous malformation in the splenic hilum.

Charcot neuroarthropathy: an unusual case and a review of the literature.

Charcot neuroarthropathy is a devastating consequence of diabetes, requiring early identification and immediate management. A differentiation should be made from osteomyelitis and other pathologies. The authors describe a case of Charcot foot with radiological findings of complete fragmentation of the calcaneum.

Vertebroplasty and kyphoplasty.

Vertebral compression fractures are common in elderly populations and in particular in postmenopausal women as a consequence of osteoporosis. Percutaneous vertebroplasty and kyphoplasty are minimally invasive procedures that are increasingly used to treat persistent or severe acute pain from these fractures. Vertebroplasty works by augmenting the weak osteopenic vertebrae with polymethylmethacrylate (PMMA) bone cement and thus preventing further microfractures and associated pain.

The sesamoid index in psoriatic arthropathy.

Objective: The sesamoid index was originally described as an aid to the diagnosis of acromegaly. We performed this study to assess the value of the thumb sesamoid index in the diagnosis of psoriatic arthropathy.

Design: Retrospective measurement of the sesamoid index (length x width of the medial thumb sesamoid), along with the age and sex were recorded for patients as described below.

Paget's disease of bone.

Paget's disease of bone is one of the most common diseases to affect bone, yet it is rare before the age of 50. The etiology of the condition remains unproven. Paget's disease of bone has become less common, less severe, and less extensive in recent decades.