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Musculoskeletal Diseases - Top 30 Publications

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, and PIGU (phosphatidylinositol-glycan biosynthesis classes K, S, T, and U, respectively). This complex orchestrates the attachment of the GPI anchor to the C terminus of precursor proteins in the endoplasmic reticulum. Here, we report bi-allelic mutations in GPAA1 in ten individuals from five families. Using whole-exome sequencing, we identified two frameshift mutations (c.981_993del [p.Gln327Hisfs(∗)102] and c.920delG [p.Gly307Alafs(∗)11]), one intronic splicing mutation (c.1164+5C>T), and six missense mutations (c.152C>T [p.Ser51Leu], c.160_161delinsAA [p.Ala54Asn], c.527G>C [p.Trp176Ser], c.869T>C [p.Leu290Pro], c.872T>C [p.Leu291Pro], and c.1165G>C [p.Ala389Pro]). Most individuals presented with global developmental delay, hypotonia, early-onset seizures, cerebellar atrophy, and osteopenia. The splicing mutation was found to decrease GPAA1 mRNA. Moreover, flow-cytometry analysis of five available individual samples showed that several GPI-anchored proteins had decreased cell-surface abundance in leukocytes (FLAER, CD16, and CD59) or fibroblasts (CD73 and CD109). Transduction of fibroblasts with a lentivirus encoding the wild-type protein partially rescued the deficiency of GPI-anchored proteins. These findings highlight the role of the transamidase complex in the development and function of the cerebellum and the skeletal system.

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

A series of simplex cases have been reported under various diagnoses sharing early aging, especially evident in congenitally decreased subcutaneous fat tissue and sparse hair, bone dysplasia of the skull and fingers, a distinctive facial gestalt, and prenatal and postnatal growth retardation. For historical reasons, we suggest naming the entity Fontaine syndrome. Exome sequencing of four unrelated affected individuals showed that all carried the de novo missense variant c.649C>T (p.Arg217Cys) or c.650G>A (p.Arg217His) in SLC25A24, a solute carrier 25 family member coding for calcium-binding mitochondrial carrier protein (SCaMC-1, also known as SLC25A24). SLC25A24 allows an electro-neutral and reversible exchange of ATP-Mg and phosphate between the cytosol and mitochondria, which is required for maintaining optimal adenine nucleotide levels in the mitochondrial matrix. Molecular dynamic simulation studies predict that p.Arg217Cys and p.Arg217His narrow the substrate cavity of the protein and disrupt transporter dynamics. SLC25A24-mutant fibroblasts and cells expressing p.Arg217Cys or p.Arg217His variants showed altered mitochondrial morphology, a decreased proliferation rate, increased mitochondrial membrane potential, and decreased ATP-linked mitochondrial oxygen consumption. The results suggest that the SLC25A24 mutations lead to impaired mitochondrial ATP synthesis and cause hyperpolarization and increased proton leak in association with an impaired energy metabolism. Our findings identify SLC25A24 mutations affecting codon 217 as the underlying genetic cause of human progeroid Fontaine syndrome.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome. SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/Pi carrier. In fibroblasts from affected individuals, the mutated SLC25A24 showed normal stability. In contrast to control cells, the probands' cells showed mitochondrial swelling, which was exacerbated upon treatment with hydrogen peroxide (H2O2). The same effect was observed after overexpression of the mutant cDNA. Under normal culture conditions, the mitochondrial membrane potential of the probands' fibroblasts was intact, whereas ATP content in the mitochondrial matrix was lower than that in control cells. However, upon H2O2 exposure, the membrane potential was significantly elevated in cells harboring the mutated SLC25A24. No reduction of mitochondrial DNA copy number was observed. These findings demonstrate that mitochondrial dysfunction with increased sensitivity to oxidative stress is due to the SLC25A24 mutations. Our results suggest that the SLC25A24 mutations induce a gain of pathological function and link mitochondrial ATP-Mg/Pi transport to the development of skeletal and connective tissue.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis. By comparing the exomes of individuals with SMD with the radiographic appearance of "corner fractures" at metaphyses, we identified three individuals with fibronectin (FN1) variants affecting highly conserved residues. Furthermore, using matching tools and the SkelDys emailing list, we identified other individuals with de novo FN1 variants and a similar phenotype. The severe scoliosis in most individuals and rare developmental coxa vara distinguish individuals with FN1 mutations from those with classical Sutcliffe-type SMD. To study functional consequences of these FN1 mutations on the protein level, we introduced three disease-associated missense variants (p.Cys87Phe [c.260G>T], p.Tyr240Asp [c.718T>G], and p.Cys260Gly [c.778T>G]) into a recombinant secreted N-terminal 70 kDa fragment (rF70K) and the full-length fibronectin (rFN). The wild-type rF70K and rFN were secreted into the culture medium, whereas all mutant proteins were either not secreted or secreted at significantly lower amounts. Immunofluorescence analysis demonstrated increased intracellular retention of the mutant proteins. In summary, FN1 mutations that cause defective fibronectin secretion are found in SMD, and we thus provide additional evidence for a critical function of fibronectin in cartilage and bone.

Malignant pheochromocytoma with multiple vertebral metastases causing acute incomplete paralysis during pregnancy: Literature review with one case report.

We present a rare case of malignant pheochromocytoma with thoracic metastases during pregnancy that presented with symptoms of myelopathy and was treated with circumferential decompression, stabilization, and radiation. The management of this unique case is not well documented. The clinical manifestations, imaging results, pathological characteristics, treatment and prognosis of the case were analyzed.

Large malignant granular cell tumor with suprascapular nerve and brachial plexus invasion: A case report and literature review.

Malignant granular cell tumor is a kind of rare and highly aggressive malignant tumor that commonly occurs in lower extremity, trunk, and peritoneal cavity. Huge malignant granular cell tumor (MGCT) with suprascapular nerve and brachial plexus invasion was extremely rare.

Platelet-rich plasma as a treatment for plantar fasciitis: A meta-analysis of randomized controlled trials.

Recently, platelet-rich plasma (PRP) has been used as an alternative therapy for plantar fasciitis (PF) to reduce heel pain and improve functional restoration. We evaluated the current evidence concerning the efficacy and safety of PRP as a treatment for PF compared with the efficacy and safety of steroid treatments.

The treatment strategies for spine fractures in patients with ankylosing spondylitis: A case report.

The aim of the study was to explore surgical strategies for effectively treating spine fractures in patients with ankylosing spondylitis (AS) and investigate the postoperative outcomes.

"Message from a turtle": otitis with Salmonella arizonae in children: Case report.

Salmonella enterica subsp arizonae is a common gut inhabitant of reptiles (snakes are the most common reservoir, but it also occurs in turtles). Alhough human cases owing to this organism are exceedingly rare, it may occasionally infect young infants and immunocompromised individuals with a history of intimate associations with reptiles. Our case is the 20th one among the infections with S arizonae in children, but the 2nd one of otitis and the first of mastoiditis. The other cases had different anatomical locations, such as gastroenteritis, osteomyelitis, meningitis, ankle infection, wound infection, and sinusitis.

Skull metastases detecting on arterial spin labeling perfusion: Three case reports and review of literature.

Detection of skull metastases is as important as detection of brain metastases because early diagnosis of skull metastases is a crucial determinant of treatment. However, the skull can be a blind spot for assessing metastases on routine brain magnetic resonance imaging (MRI). To the best of our knowledge, the finding of skull metastases on arterial spin labeling (ASL) has not been reported. ASL is a specific MRI sequence for evaluating cerebral blood flow using magnetized endogenous inflow blood. This study uses ASL as a routine sequence of brain MRI protocol and describes 3 clinical cases of skull metastases identified by ASL. The study also highlights the clinical usefulness of ASL in detecting skull metastases.

Predictors and long-term outcome in Greek adults with juvenile idiopathic arthritis: a 17-year continuous follow-up study.

To describe the disease characteristics, continuous course and long-term outcome and to evaluate predictors of outcome in JIA in Greece.

A qualitative exploration of physical, mental and ocular fatigue in patients with primary Sjögren's Syndrome.

Primary Sjögren's Syndrome (pSS) affects exocrine glands such as those producing the tear film, leading to dry and painful eyes, but is also associated with fatigue. The experience of fatigue in pSS, and its relationship with sicca symptoms, is poorly understood.

Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade. Tocilizumab is a humanized, monoclonal, anti-human interleukin-6 receptor antibody routinely used to treat arthritis in children and adults. Herein we report the first case of successful treatment of PHID syndrome using tocilizumab. Before commencing tocilizumab, there was evidence of significant systemic inflammation, and progressive sclerodermatous changes (physician global assessment [PGA] 7/10). Twelve weeks after starting tocilizumab (8 mg/kg every 2 weeks, intravenously) systemic inflammatory symptoms improved, and acute phase response markers normalized; serum amyloid A reduced from 178 to 8.4 mg/L. After a dose increase to 12 mg/kg every 2 weeks her energy levels, appetite, fevers, and night sweats further improved. Less skin tightness (PGA 5/10) was documented 12 months later. This excellent clinical and serological response was sustained over 48 months, and cutaneous sclerosis had improved further (PGA 3/10). Her height remained well below the 0.4th centile, and tocilizumab also had no impact on her diabetes or exocrine pancreatic insufficiency. Although the mechanism of autoinflammation of PHID remains uncertain, we suggest that tocilizumab should be the first choice when considering treatment of the autoinflammatory or cutaneous manifestations of this genetic disease.

Racial and ethnic disparities in treatment and survival of pediatric sarcoma.

Childhood sarcomas are rare and require complex interdisciplinary care including surgery, chemotherapy, and radiation. The goal of this study was to determine if racial or ethnic disparities exist for pediatric sarcoma patients in the United States.

Effectiveness, Safety, and Predictors of Response to Botulinum Toxin Type A in Refractory Masticatory Myalgia: A Retrospective Study.

Masticatory muscle pain disorders respond well to conservative therapy; however, in some patients the pain becomes refractory. Botulinum toxin type A (BoT-A) therapy has been shown to be an effective modality in the management of refractory headache disorders. Conversely, there are conflicting reports in the literature regarding the efficacy, safety, and predictors of therapeutic response to BoT-A therapy for management of refractory masticatory muscle pain.

Risk of Ischemic Heart Disease in Patients With Sjögren's Syndrome.

Ischemic heart disease (IHD) has emerged as a major cause of morbidity and mortality in patients with autoimmune conditions such as systemic lupus erythematosus and rheumatoid arthritis, but the risk of IHD in Sjögren's syndrome (SjS) is unknown. To fill this knowledge gap, we estimated the prevalence and risk of IHD with SjS compared to controls from the general population using the Healthcare Cost and Utilization Project National Inpatient Sample 2011 database.

Water extract of Rumex crispus prevents bone loss by inhibiting osteoclastogenesis and inducing osteoblast mineralization.

Rumex crispus root has traditionally been used in Asian medicine for the treatment of hemorrhage and dermatolosis. The aim of this study was to explore the pharmaceutical effects of water extract of Rumex crispus (WERC) on osteoblast and osteoclast differentiation. We also studied the effect of WERC on the receptor activator of nuclear factor kappa-B ligand (RANKL)-induced trabecular bone destruction mice model.

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, and KMT2C), in single individuals with clinical characteristics overlapping Kleefstra syndrome. Here, we present a novel cohort of five patients with de novo loss of function mutations affecting the histone methyltransferase KMT2C. Our clinical data delineates the KMT2C phenotypic spectrum and reinforces the phenotypic overlap with Kleefstra syndrome and other related ID disorders. To elucidate the common molecular basis of the neuropathology associated with mutations in KMT2C and EHMT1, we characterized the role of the Drosophila KMT2C ortholog, trithorax related (trr), in the nervous system. Similar to the Drosophila EHMT1 ortholog, G9a, trr is required in the mushroom body for short term memory. Trr ChIP-seq identified 3371 binding sites, mainly in the promoter of genes involved in neuronal processes. Transcriptional profiling of pan-neuronal trr knockdown and G9a null mutant fly heads identified 613 and 1123 misregulated genes, respectively. These gene sets show a significant overlap and are associated with nearly identical gene ontology enrichments. The majority of the observed biological convergence is derived from predicted indirect target genes. However, trr and G9a also have common direct targets, including the Drosophila ortholog of Arc (Arc1), a key regulator of synaptic plasticity. Our data highlight the clinical and molecular convergence between the KMT2 and EHMT protein families, which may contribute to a molecular network underlying a larger group of ID/ASD-related disorders.

Predictive factors associated with neck pain in patients with cervical disc degeneration: A cross-sectional study focusing on Modic changes.

The predictive factors associated with neck pain remain unclear. We conducted a cross-sectional study to assess predictive factors, especially Modic changes (MCs), associated with the intensity and duration of neck pain in patients with cervical disc degenerative disease.We retrospectively reviewed patients in our hospital from January 2013 to December 2016. Severe neck pain (SNP) and persistent neck pain (PNP) were the 2 main outcomes, and were assessed based on the numerical rating scale (NRS). Basic data, and also imaging data, were collected and analyzed as potential predictive factors. Univariate analysis and multiple logistic regression analysis were performed to assess the predictive factors for neck pain.In all, 381 patients (193 males and 188 females) with cervical degenerative disease were included in our study. The number of patients with SNP and PNP were 94 (24.67%) and 109 (28.61%), respectively. The NRS of neck pain in patients with type 1 MCs was significantly higher than type 2 MCs (4.8 ± 0.9 vs 3.9 ± 1.1; P = .004). The multivariate logistic analysis showed that kyphosis curvature (odds ratio [OR] 1.082, 95% confidence interval [CI] 1.044-1.112), spondylolisthesis (OR 1.339, 95% CI 1.226-1.462), and annular tear (OR 1.188, 95% CI 1.021-1.382) were factors associated with SNP, whereas kyphosis curvature (OR 1.568, 95% CI 1.022-2.394), spondylolisthesis (OR 1.486, 95% CI 1.082-2.041), and MCs (OR 1.152, 95% CI 1.074-1.234) were associated with PNP.We concluded that kyphosis curvature, spondylolisthesis, and annular tear are associated with SNP, whereas kyphosis curvature, spondylolisthesis, and MCs are associated with PNP. This study supports the view that MCs can lead to a long duration of neck pain.

Amputation of the first metatarsophalangeal joint due to a giant gouty tophi: A case report.

The first metatarsophalangeal joint (MTP1) is the most frequent site of gouty tophi. We report an unusual case with a giant skin-perforating tophi. This is the first case of gouty tophi at MTP1 which accepts surgical debulking and amputation.

Predictive validity of the ACS-NSQIP surgical risk calculator in geriatric patients undergoing lumbar surgery.

The risk calculator of the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) has been shown to be useful in predicting postoperative complications. In this study, we aimed to evaluate the predictive value of the ACS-NSQIP calculator in geriatric patients undergoing lumbar surgery.A total of 242 geriatric patients who underwent lumbar surgery between January 2014 and December 2016 were included. Preoperative clinical information was retrospectively reviewed and entered into the ACS-NSQIP calculator. The predictive value of the ACS-NSQIP model was assessed using the Hosmer-Lemeshow test, Brier score (B), and receiver operating characteristics (ROC, also referred C-statistic) curve analysis. Additional risk factors were calculated as surgeon-adjusted risk including previous cardiac event and cerebrovascular disease.Preoperative risk factors including age (P = .004), functional independence (P = 0), American Society of Anesthesiologists class (ASA class, P = 0), dyspnea (P = 0), dialysis (P = .049), previous cardiac event (P = .001), and history of cerebrovascular disease (P = 0) were significantly associated with a greater incidence of postoperative complications. Observed and predicted incidence of postoperative complications was 43.8% and 13.7% (±5.9%) (P < .01), respectively. The Hosmer-Lemeshow test demonstrated adequate predictive accuracy of the ACS-NSQIP model for all complications. However, Brier score showed that the ACS-NSQIP model could not accurately predict risk of all (B = 0.321) or serious (B = 0.241) complications, although it accurately predicted the risk of death (B = 0.0072); this was supported by ROC curve analysis. The ROC curve also showed that the model had high sensitivity and specificity for predicting renal failure and readmission.The ACS-NSQIP surgical risk calculator is not an accurate tool for the prediction of postoperative complications in geriatric Chinese patients undergoing lumbar surgery.

One-stage posterior excision of lumbosacral hemivertebrae: Retrospective study of case series and literature review.

Lumbosacral hemivertebrae causes unique problems as early trunk decompensation and long compensatory curve above. There are only a few reports on it. This case series is a fair supplement in the literatures.To evaluate the clinical and radiological outcomes of lumbosacral hemivertebrae resection through 1-stage posterior approach.Between 2005 and 2014, a consecutive series of congenital scoliosis due to lumbosacral hemivertebrae underwent hemivertebrae excision through 1-stage posterior only approach. Demographic, operative, radiological, and quality of life data were reviewed.The mean lumbosacral curve was 29 ± 7° preoperatively, 10 ± 3° postoperatively, and 13 ± 5° at the final follow up. The final correction rate was 55 ± 9%. The gravity trunk shift was 11 ± 3 mm preoperatively, 37 ± 12 mm (range, 6-49 mm) postoperatively, 14 ± 9 mm at final follow up. The rib cage shift was 36 ± 12 mm preoperatively, 19 ± 5 mm postoperatively, and 15 ± 4 mm at the final follow up. The mean blood loss was 527 ± 125 mL and the mean surgery time was 336 ± 98 minutes. The mean follow up period was 41 ± 6 months. Two patients underwent transient neurological complications, 2 had wound bad healing, and 1 got wound infection. No pseudoarthrosis and instrumentation failure was observed.One-stage posterior hemivertebrae excision could gain reasonable outcome. It is crucial to completely resect the hemivertebrae and the Y-shaped disc. Bending the rod to appropriate lordosis is helpful to close the convex side. Early surgical intervene is a preferred choice to restore the trunk balance and avoid extensive fusion. The neurological complication rate is high. Convex radiculopathy is often caused by retraction, it could recover at follow up.

Stair negotiation in women with fibromyalgia: A descriptive correlational study.

Walking up and down stairs is a common and important activity of daily living. Women with fibromyalgia often show a reduced ability to perform this task.The objective of this study was to evaluate the test-retest reliability of stair negotiation tasks and to assess the impact of fibromyalgia symptoms on the ability to negotiate stairs.Forty-two women with fibromyalgia participated in this descriptive correlational study. The relevance of the stair negotiation (both walking up and down) was evaluated by assessing its association with the revised version of the fibromyalgia impact questionnaire (FIQ-R) and other health-related variables. Test-retest reliability was also analyzed. The main outcome measures were time spent walking up and down stairs and impact of fibromyalgia, quality of life, number of falls, weight, and lower limb strength and endurance.The intraclass correlation coefficient (ICC) for stair descent was 0.929 whereas that for ascent was 0.972. The score in these tests correlated significantly with the total score for the FIQ-R and the score for many of dimensions and symptoms: that is, physical function, overall impact of fibromyalgia, pain, energy, stiffness, restorative sleep, tenderness, self-perceived balance problems, and sensitivity.Given the importance of the stair negotiation as activity of daily living and the high reliability, both stair ascent and descent tasks may be useful as outcome measures in studies on patients with fibromyalgia.

Relapsing polychondritis in a liver transplant recipient: A case report.

Relapsing polychondritis (RP) is a multisystemic, progressive disease of unknown etiology characterized by recurrent inflammation and progressive cartilage destruction. It can involve all types of cartilage including ears and nose, tracheobronchial tree, joints, and any other tissue rich in proteoglycans such as heart, eyes, and blood vessels. Recurrent chondritis can be life-threatening if the respiratory tract, heart valves, or blood vessels are affected. To date there is no data in the literature on the post solid organ transplantation RP.

Thyroid disorders in patients with newly diagnosed rheumatoid arthritis is associated with poor initial treatment response evaluated by disease activity score in 28 joints-C-reactive protein (DAS28-CRP): An observational cohort study.

To determine the prevalence of thyroid disorders among newly diagnosed rheumatoid arthritis (RA) patients and evaluate the association between clinical characteristics of RA and thyroid disorders, and also initial treatment response in the RA patients with thyroid disorders.Newly diagnosed, adult RA patients who were diagnosed according to the new 2010 American College of Rheumatology/European League Against Rheumatism criteria since January 1, 2010, were included. Patients' demographic data, serology results including immunoglobulin M rheumatoid factor (IgM RF), anticyclic citrullinated peptide antibody (anti-CCP), and antinuclear antibody (ANA), and also disease activity score in 28 joints-C-reactive protein at the time of diagnosis and after 4 months (±1-2 months) of treatment initiation were extracted from Danish Danbio Registry. Patients' electronic hospital records for the past 10 years were reviewed to reveal if they had been diagnosed with thyroid disorders or they had abnormal thyroid test.In all, 439 patients were included, female 60.1%, mean age 64.6 ± 15.0 years and disease duration 2.6 ± 1.7 years. Prevalence of thyroid disorders was 69/439 (15.7%) and hypothyroidism was the most frequent disorder (30.4%). The presence of thyroid disorders among RA patients was significantly associated with female sex (P < .001), ANA positivity (P = .04), and anti-CCP ≥100 EU/mL (P = .05). Furthermore, RA patients with thyroid disorders had significantly poorer initial response to RA treatment compared with patients with isolated RA after 4 months of treatment (P = .02). There were no associations between thyroid disorders and age, disease duration, and also IgM RF positivity.Presence of thyroid disorders in RA patients is suggestive of a more aggressive disease and poor outcome, with direct effect on initial treatment response. To diagnose concurrent thyroid disorders at an earlier stage, routine measurement of serum thyroid-stimulating hormone is recommended in all RA patients at the time of diagnosis and with yearly interval thereafter.

Effect of polydeoxyribonucleotide injection on pes anserine bursitis: A case report.

Pes anserine (PA) bursitis is an inflammatory condition of the medial knee. The PA bursa becomes more painful when infected, damaged, or irritated. Although various treatment options have been attempted to treat PA bursitis, optimal treatments are still debated. This study aims to investigate the effect of polydeoxyribonucleotide (PDRN) injection on reducing pain and inflammation in a patient presenting with PA bursitis.

Prevalence of osteoporosis and related lifestyle and metabolic factors of postmenopausal women and elderly men: A cross-sectional study in Gansu province, Northwestern of China.

The aim of this study was to investigate the osteoporosis prevalence and the risks of postmenopausal women and elderly men in Gansu province.This cross-sectional study involved 3359 postmenopausal women and 3205 elderly males who were randomly selected from 7 areas in Gansu province. Areal bone mineral density (BMD) (g/cm) was measured at the distal one-third radius of the nonstressed forearm using dual-energy X-ray absorptiometry (DXA: Osteometer MediTech). Factors related to osteoporosis were analyzed.The prevalence of osteoporosis in the entire study population was 9.65% for postmenopausal women and 8.08% for elderly males by WHO criteria, while the rate of osteopenia were 27.09% for postmenopausal women and 26.68% for elderly males. Risk of osteoporosis was significantly associated with age, menopause age, duration of menopause, body mass index (BMI), educational level, and alcohol consumption in postmenopausal women. In elderly men, age, BMI, current smoking, alcohol consumption, physical activity, and sun exposure were associated with osteoporosis. The bone turnover markers osteocalcin (OC) and C-terminal cross-linked telopeptides of type I collagen (β-CTX) were inversely correlated with BMD in both genders; serum P and 25(OH)D found no significant correlation with BMD. Serum Ca showed a positive effect on BMD in elderly men only.The osteoporosis prevalence of postmenopausal women and the men aged over 60 years in Gansu province is presented. Risk of osteoporosis was significantly associated with age, menopause age, year since menopause, BMI, and educational level in postmenopausal women. In elderly men, age, BMI, and current smoking were associated with osteoporosis. This study also found that higher OC and β-CTX level were associated with lower BMD. Poor 25(OH)D, Ca, P status were not associated with an increased risk of low BMD.

Membranous nephropathy in a patient with ankylosing spondylitis: A case report.

Renal complications in ankylosing spondylitis (AS) were rarely observed, and proteinuria associated with AS can be seen often due to amyloidosis in this kind of complications, while membranous nephropathy (MN) is seldom considered. This article reports a case of coexistence of AS and MN, to provide the exact relationship of these 2 entities and recognized some causes of renal involvement in AS.

Craniosynostosis Surgery: Does Hospital Case Volume Impact Outcomes or Cost?

The relationships between hospital/surgeon characteristics and operative outcomes and cost are being scrutinized increasingly. In patients with craniosynostosis specifically, the relationship between hospital volume and outcomes has yet to be characterized.

Resurfacing Capitate Pyrocarbon Implant versus Proximal Row Carpectomy Alone: A Comparative Study to Evaluate the Role of Capitate Prosthetic Resurfacing in Advanced Carpal Collapse.

The Resurfacing Capitate Pyrocarbon Implant associated with proximal row carpectomy has been used to treat symptomatic advanced carpal collapse, widening the indications of proximal row carpectomy to patients with capitate head arthritis. The authors retrospectively compared their case series of implant versus carpectomy alone, analyzing whether prosthetic implant outcomes could be similar to those of proximal row carpectomy even with a higher stage of osteoarthritis.