Women and girls with inherited bleeding disorders: Focus on haemophilia carriers and heavy menstrual bleeding.

Raising awareness and improving recognition, accurate classification, and enhanced access to new treatments represent current key challenges for carriers of haemophilia. Women and girls carrying genes for haemophilia often experience significant bleeding and/or low factor levels. The bleeding associated with female haemophilia is frequently overlooked, has a weak correlation with factor levels, and manifests differently than in males, with heavy menstrual bleeding being a predominant symptom.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (, , , , , and ). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families.

The Role of Negative-Pressure Wound Therapy in Patients with Fracture-Related Infection: A Systematic Review and Critical Appraisal.

Introduction: Fracture-related infection (FRI) is a severe musculoskeletal complication in orthopedic trauma surgery, causing challenges in bony and soft tissue management. Currently, negative-pressure wound therapy (NPWT) is often used as temporary coverage for traumatic and surgical wounds, also in cases of FRI. However, controversy exists about the impact of NPWT on the outcome in FRI, specifically on infection recurrence.

Percutaneous cementoplasty of periprosthetic loosening: can interventional radiologists offer an alternative to revision surgery?

Objective: To evaluate feasibility and validate both safety and efficiency of radiological percutaneous periprosthetic bone cementoplasty (RPPBC) performed under local anesthesia as an alternative minimally invasive treatment of aseptic implant loosening.

Methods: In this case series, seven patients (mean age 81 years, range 73 to 89 years, 2 men and 5 women) were enrolled between February 2011 and January 2020 with confirmed aseptic loosening of orthopedic implants. One patient presented with tibial component loosening of an unicompartmental knee arthroplasty, one with glenoid component loosening from a reverse shoulder arthroplasty, one femoral gamma nail, and four presented with pedicle screw loosening after staged posterior lumbar interbody fusion.

Investigating a suitable model for the study of vitamin D mediated regulation of human placental gene expression.

Transfer and metabolism of vitamin D across the human placenta is required for fetal development. However, these fundamental mechanisms are not well understood and model systems are required to help understand them. The BeWo choriocarcinoma cell line is derived from extravillous trophoblast but is used as a model for villous syncytiotrophoblast and the placental barrier.

Plate-assisted Bone Segment Transport With Motorized Lengthening Nails and Locking Plates: A Technique to Treat Femoral and Tibial Bone Defects.

Unlabelled: This article describes a new bone transport technique for femoral and tibial bone defects using lengthening nails combined with locking plates. We term it plate-assisted bone segment transport (PABST).

Methods: Nine patients with five femoral and four tibial bone defects from open fractures or malignancies were treated between 2016 and 2018.

The impact of hip fracture on health-related quality of life and activities of daily living: the SPARE-HIP prospective cohort study.

Purpose: The medical morbidity and mortality associated with neck of femur fractures is well-documented, whereas there is limited data for patient-reported outcomes. The aim of this study was to characterize the impact of neck of femur fractures on activities of daily living and patient-reported health-related quality of life.

Methods: Design and participants: Multicentric prospective cohort study.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis.

Metastatic meningioma presenting as a malignant soft tissue tumour.

Background: Extracranial metastasis of malignant meningioma to soft tissues is extremely rare and its clinical, radiological and pathological features are not well-characterised.

Case Presentation: We report a case of a 58 year old man who presented with a mobile mass within the left trapezius muscle. The patient had previously undergone surgery for a right frontal lobe high grade anaplastic meningioma.

Muscle as an osteoinductive niche for local bone formation with the use of a biphasic calcium sulphate/hydroxyapatite biomaterial.

Objectives: We have observed clinical cases where bone is formed in the overlaying muscle covering surgically created bone defects treated with a hydroxyapatite/calcium sulphate biomaterial. Our objective was to investigate the osteoinductive potential of the biomaterial and to determine if growth factors secreted from local bone cells induce osteoblastic differentiation of muscle cells.

Materials And Methods: We seeded mouse skeletal muscle cells C2C12 on the hydroxyapatite/calcium sulphate biomaterial and the phenotype of the cells was analysed.

A multicenter cohort study of spinal osteoid osteomas: results of surgical treatment and analysis of local recurrence.

Background Context: Spinal osteoid osteomas are benign primary tumors arising predominantly from the posterior column of the spine. These "osteoblastic" lesions have traditionally been treated with intralesional excision.

Purpose: The purpose of the present study was to review the treatment and local recurrence rates for symptomatic spinal osteoid osteomas.

Pharmacokinetics of gentamicin eluted from a regenerating bone graft substitute: In vitro and clinical release studies.

Objectives: Deep bone and joint infections (DBJI) are directly intertwined with health, demographic change towards an elderly population, and wellbeing.The elderly human population is more prone to acquire infections, and the consequences such as pain, reduced quality of life, morbidity, absence from work and premature retirement due to disability place significant burdens on already strained healthcare systems and societal budgets.DBJIs are less responsive to systemic antibiotics because of poor vascular perfusion in necrotic bone, large bone defects and persistent biofilm-based infection.

Epidemiology of fractures in the United Kingdom 1988-2012: Variation with age, sex, geography, ethnicity and socioeconomic status.

Unlabelled: Rates of fracture worldwide are changing. Using the Clinical Practice Research Datalink (CPRD), age, and gender, geographical, ethnic and socioeconomic trends in fracture rates across the United Kingdom were studied over a 24-year period 1988-2012. Previously observed patterns in fracture incidence by age and fracture site were evident.

Mobile spine chordoma: results of 166 patients from the AOSpine Knowledge Forum Tumor database.

Object: A chordoma is an indolent primary spinal tumor that has devastating effects on the patient's life. These lesions are chemoresistant, resistant to conventional radiotherapy, and moderately sensitive to proton therapy; however, en bloc resection remains the preferred treatment for optimizing patient outcomes. While multiple small and largely retrospective studies have investigated the outcomes following en bloc resection of chordomas in the sacrum, there have been few large-scale studies on patients with chordomas of the mobile spine.

Maternal Factors Are Associated with the Expression of Placental Genes Involved in Amino Acid Metabolism and Transport.

Introduction: Maternal environment and lifestyle factors may modify placental function to match the mother's capacity to support the demands of fetal growth. Much remains to be understood about maternal influences on placental metabolic and amino acid transporter gene expression. We investigated the influences of maternal lifestyle and body composition (e.

Strategies for the prevention of knee osteoarthritis.

Osteoarthritis (OA) has been thought of as a disease of cartilage that can be effectively treated surgically at severe stages with joint arthroplasty. Today, OA is considered a whole-organ disease that is amenable to prevention and treatment at early stages. OA develops slowly over 10-15 years, interfering with activities of daily living and the ability to work.

Diet quality across early childhood and adiposity at 6 years: the Southampton Women's Survey.

Background: Poor diet quality in early childhood is inconsistently linked to obesity risk. Understanding may be limited by the use of cross-sectional data and the use of body mass index (BMI) to define adiposity in childhood.

Objective: The objective of this study is to examine the effects of continued exposure to diets of varying quality across early childhood in relation to adiposity at 6 years.

Longitudinal changes in lean mass predict pQCT measures of tibial geometry and mineralisation at 6-7 years.

Background: Studies in childhood suggest that both body composition and early postnatal growth are associated with bone mineral density (BMD). However, little is known of the relationships between longitudinal changes in fat (FM) and lean mass (LM) and bone development in pre-pubertal children. We therefore investigated these associations in a population-based mother-offspring cohort, the Southampton Women's Survey.

Maternal dietary glycemic index and glycemic load in early pregnancy are associated with offspring adiposity in childhood: the Southampton Women's Survey.

Background: Maternal hyperglycemia in pregnancy is associated with greater adiposity in offspring. The glycemic index (GI) and glycemic load (GL) describe the glycemic response to carbohydrate ingestion. However, the influence of maternal dietary GI and GL in pregnancy on childhood adiposity is unknown.

Maternal antenatal vitamin D status and offspring muscle development: findings from the Southampton Women's Survey.

Context: Maternal 25-hydroxyvitamin D [25(OH)D] status in pregnancy has been associated with offspring bone development and adiposity. Vitamin D has also been implicated in postnatal muscle function, but little is known about a role for antenatal 25(OH)D exposure in programming muscle development.

Objective: We investigated the associations between maternal plasma 25(OH)D status at 34 weeks of gestation and offspring lean mass and muscle strength at 4 years of age.

'I can't see any reason for stopping doing anything, but I might have to do it differently'--restoring hope to patients with persistent non-specific low back pain--a qualitative study.

Purpose: To explore the differences in narrative between patients with persistent non-specific low back pain (PLBP) who benefited from a pain management programme, and those who did not benefit.

Method: We conducted interviews with 20 patients attending a pain management programme; prior to attending the programme, immediately following the programme and at one year. Our analysis focused on a theoretical sample of patients who either described dramatic life improvements at one year, and who described themselves as much worse.

Torn human rotator cuff tendons have reduced collagen thermal properties on differential scanning calorimetry.

The cause of the high failure rates often observed following rotator cuff tendon repairs, particularly massive tears, is not fully understood. Collagen structural changes have been shown to alter tendon thermal and mechanical properties. This study aimed to form a quantitative rather than qualitative assessment, of whether differences in collagen structure and integrity existed between small biopsies of normal, small, and massive rotator cuff tears using differential scanning calorimetry.