Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections

ObjectivesLoeys-Dietz syndrome (LDS) is a rare genetic cause of stroke associated with connective tissue disorders but is not well known among stroke physicians.1 The main objectives of this case report are to increase awareness of this condition and to improve stroke prevention at follow-up visits.MethodsA patient with aortic and carotid artery dissection who had undergone 2 major aortic surgeries with mechanical composite graft and treated with full-dose anticoagulation was reevaluated by neurologists due to retinal hypoperfusion symptoms. After musculoskeletal examination, cervical ultrasonography, and computerized tomography angiography, he was referred for whole-genome sequencing.ResultsWe found joint hypermobility, skin hyperelasticity, bifid uvula, and combined cervical artery dissections that caused intermittently decreased blood flow in the left ophthalmic artery and an acute asymptomatic embolic stroke. A novel pathogenic variant of LDS type 5 consisting of a heterogeneous nonsense variant c.1044C>A, p.(Cys384*) was found in the TGF-β 3 (TGFB3) gene. Consequently, anticoagulation was intensified, and at 1-year follow-up, the patient's symptoms improved.DiscussionThis novel genetic variant coupled to the patient's phenotype contributes to the knowledge of genetic causes of stroke. Patients with multiple arterial dissections and musculoskeletal features should be offered genetic testing and be carefully evaluated to avoid further cerebrovascular ischemic lesions.

Simple vacuum cup to identify the primary myofascial restriction: the root cause of pain elsewhere

Identification of the primary source of pain determines the success of musculoskeletal pain management. A detailed history and physical examination are the current gold standards for identifying musculoskeletal pain source in day-to-day clinical practice. This process, at times, may potentially result in inadequate/inappropriate identification of the pain source. In this case report, we present the usefulness of a simple and inexpensive vacuum cup. We found that this accurately identified the primary pain source, distant from and unrelated to the site of pain presentation in a 30-year-old man with back pain. Routine use of this simple technique in conjunction with the regular musculoskeletal examination may better identify primary restrictions in the body tissues. Based on our experience, we propose that this approach has the potential to offer better outcomes in the treatment of musculoskeletal pain in the future.

Approach to Musculoskeletal Examination

Musculoskeletal (MSK) symptoms are one of the most common reasons for patients to seek medical attention. Despite the high prevalence of musculoskeletal disorders in all fields of clinical practice, doctors continue to describe poor confidence in their musculoskeletal clinical skills. Here in this chapter an overview of the epidemiology of MSK disorders and the current status of MSK competency skills among clinicians will be discussed. Then a general approach to MSK examination will be introduced. The rest of the chapter will address detailed approach to upper limb and lower and back joints examination. Each section will start with a brief approach to pains originating from each site. Good history is part of the MSK examination.

Complete distal deltoid muscle detachment: a case report

Background The deltoid is a large triangular muscle at the shoulder. It attaches proximally to the clavicle, acromion and scapula, while distally it attaches to the lateral deltoid tuberosity. Ruptures are rare, and the literature only reports cases of proximal detachment. In this article, we report the first case of distal traumatic deltoid muscle detachment and its successful management. Case A young female sustained a traumatic injury following a Jet Ski accident with loss of consciousness. A complete distal rupture of the deltoid muscle was diagnosed after the basic functions were regained and a thorough musculoskeletal examination could be conducted. A conservative approach helped her to regain an acceptable shoulder function, but there was persistent pain upon activity and cosmetic scarring. The patient underwent surgical reconstruction. Postoperatively, she recovered satisfactorily. Discussion Distal detachment of the deltoid muscle is rare. The choice for surgical treatment may be undertaken based on several factors including functional status and patient-based assessment.