Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

Background: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD.

Comment on Brandl et al. Immediate Effects of Myofascial Release on the Thoracolumbar Fascia and Osteopathic Treatment for Acute Low Back Pain on Spine Shape Parameters: A Randomized, Placebo-Controlled Trial. 2021, , 845.

I want to congratulate Brandl et al. [..

Patient survival and limb salvage after shark attack with major vascular injury: A case report.

Shark attacks are rare unique pathological processes. Some of them represent devastating injuries with a high morbidity and significant mortality. Related published articles are limited.

Novel Polyethylene Glycol-Conjugated Triazole Derivative with High Thyrointegrin αvβ3 Affinity in Acute Myeloid Leukemia Management.

(1) Background: Acute myeloid leukemia (AML) accounts for up to one-third of more than 60,000 leukemia cases diagnosed annually in the U.S. Primary AML cells express membrane αvβ3 integrin, which is associated with adverse prognosis and resistance to chemotherapies.

Imaging of Common Rheumatic Joint Diseases Affecting the Upper Limbs.

Imaging plays an important role in diagnosis and monitoring of rheumatic diseases of the upper limb. Many rheumatic diseases present with similar clinical pictures, especially in the early stages. Imaging findings in inflammatory and degenerative joint diseases often are nonspecific, especially in the early stages.

Diagnosis and treatment of the cardiovascular consequences of Fabry disease.

Fabry disease (FD) has been a diagnostic challenge since it was first recognized in 1898, with patients traditionally suffering from considerable delay before a diagnosis is made. Cardiac involvement is the current leading cause of death in FD. A combination of improved enzyme assays, availability of genetic profiling, together with more organized clinical services for rare diseases, has led to a rapid growth in the prevalence of FD.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease.

The HYSTER study: the effect of intracervically administered terlipressin versus placebo on the number of gaseous emboli and fluid intravasation during hysteroscopic surgery: study protocol for a randomized controlled clinical trial.

Background: Transcervical resection of myoma or endometrium is a safe, hysteroscopic, minimally invasive procedure. However, intravasation of distension fluid is a common phenomenon during these procedures. In a previous study we observed venous gas emboli in almost every patient.

Eponymous terms in anterior shoulder stabilization surgery.

Unlabelled: Shoulder dislocation and its treatment are probably as old as time. Surgical treatment has gained acceptance recently, especially in recurrent cases. Within roughly the last 100years, numerous treatment strategies have been developed and questions elucidated regarding the entity of shoulder instability.

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Backgound: Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considered as nociceptive pain secondary to skeletal involvement but it is described even in the absence of bone disease without a clear explanation.

ERS technical standard on bronchial challenge testing: general considerations and performance of methacholine challenge tests.

This international task force report updates general considerations for bronchial challenge testing and the performance of the methacholine challenge test. There are notable changes from prior recommendations in order to accommodate newer delivery devices. Rather than basing the test result upon a methacholine concentration (provocative concentration (PC) causing a 20% fall in forced expiratory volume in 1 s (FEV)), the new recommendations base the result upon the delivered dose of methacholine causing a 20% fall in FEV (provocative dose (PD)).

Short-term clinical results of revision elbow arthroplasty using the Latitude total elbow arthroplasty.

Aims: Revision total elbow arthroplasty (TEA) is often challenging. The aim of this study was to report on the clinical and radiological results of revision arthroplasty of the elbow with the Latitude TEA.

Patients And Methods: Between 2006 and 2010 we used the Latitude TEA for revision in 18 consecutive elbows (17 patients); mean age 53 years (28 to 80); 14 women.

Reconstruction of isolated scaphoid dislocation with carpal dissociation, associated with a carpal anomaly.

A case is presented of isolated scaphoid dislocation with carpal dissociation in the presence of a lunato-triquetral coalition. We present the treatment and follow-up of this case. In addition, the literature on scaphoid dislocation and its treatment is reviewed.

Hindfoot endoscopy for posterior ankle pain.

Hindfoot pain can be caused by a variety of pathologies, most of which can be diagnosed and treated with endoscopy. The main indications are posterior tibial tenosynovectomy, diagnosis of a longitudinal peroneus brevis rupture, peroneal tendon adhesiolysis, flexor hallucis longus release, os trigonum removal, endoscopic treatment of retrocalcaneal bursitis, endoscopic treatment of Achilles (peri)tendinopathy, and treatment of ankle joint or subtalar joint pathology. The advantages of endoscopic hindfoot surgery over open surgery are less morbidity, reduction of postoperative pain, outpatient treatment, and functional postoperative treatment.

The effect of a TCP-collagen implant on the healing of articular cartilage defects in the rabbit knee joint.

Osteochondral defects in the rabbit knee were filled with a TCP-collagen mixture. In the femoral condyles a fibrous tissue was formed in the defects similar to that seen in control defects. In the tibial plateau defects were made with penetration of the underlying epiphysis.