UNASSIGNED: Magnetic Resonance-guided Focused Ultrasound (MRgFUS) thermal ablation is an effective noninvasive ultrasonic therapy to disrupt in vivo porcine tendon but is prone to inducing skin burns. We evaluated the safety profile of a novel hybrid protocol that minimizes thermal spread by combining long-pulse focused ultrasound followed by thermal ablation.
UNASSIGNED: In-vivo Achilles tendons (hybrid N = 15, thermal ablation alone N = 21) from 15 to 20 kg Yorkshire pigs were randomly assigned to 6 treatment groups in two studies. The first (N = 21) was ablation (600, 900, or 1200 J). The second (N = 15) was hybrid: pulsed FUS (13.5 MPa peak negative pressure) followed by ablation (600, 900, or 1200 J). Measurements of ankle range of motion, tendon temperature, thermal dose (240 CEM43), and assessment of skin burn were performed in both groups.
UNASSIGNED: Rupture was comparable between the two protocols: 1/5 (20%), 5/5 (100%) and 5/5 (100%) for hybrid protocol, compared to 2/7 (29%), 6/7 (86%) and 7/7 (100%) for the ablation-only protocol with energies of 600, 900, and 1200 J, respectively. The hybrid protocol produced lower maximum temperatures, smaller areas of thermal dose, fewer thermal injuries to the skin, and fewer full-thickness skin burns. The standard deviation for the area of thermal injury was also smaller for the hybrid protocol, suggesting greater predictability.
UNASSIGNED: This study demonstrated a hybrid MRgFUS protocol combining long-pulse FUS followed by thermal ablation to be noninferior and safer than an ablation-only protocol for extracorporeal in-vivo tendon rupture for future clinical application for noninvasive release of contracted tendon.

BACKGROUND: Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement. It is caused by the mutation of TOR1AIP1, which encodes nuclear membrane protein LAP1 (lamina-associated polypeptide 1) and comprises heterogeneous phenotypes. The present study reported a patient with a novel homozygous TOR1AIP1 mutation that presented with selective muscle weakness, which further expanded the phenotype of LGMD2Y- and TOR1AIP1-associated nuclear envelopathies.
METHODS: A 40-year-old male presented with Achilles tendon contracture and muscle weakness that bothered him from 8 years old. While the strength of his distal and proximal upper limbs was severely impaired, the function of his lower limbs was relatively spared. Muscle pathology showed dystrophic features, and electron microscopy showed ultrastructural abnormalities of disrupted muscle nuclei envelopes. Whole-exome sequencing showed a frameshift mutation in TOR1AIP1 (c.98dupC).
CONCLUSIONS: We reported a novel mild phenotype of LGMD2Y with relatively selective distal upper limb weakness and joint contracture and revealed the heterogeneity of LGDM2Y and the role of the LAP1 isoform by literature review.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently identified autosomal dominant genetic syndrome with mutations in FAM111B. Herein, we report a 14-month-old girl who presented with progressive poikiloderma on the face. Her 24-year-old mother had an identical facial poikiloderma, hyperpigmentation, mottling and Blaschko line hypopigmentation on the trunk and limbs, as well as severe tendon contractures. Next-generation sequencing based on a targeted gene capture panel revealed a missense mutation in the FAM111B gene p.Phe416Ser (c.1247T>C). Her mother had the same mutation as the proband. Moreover, this mutation was absent in the unaffected father and maternal grandparents. Based on the clinical manifestations and genetic analysis, the proband and her mother were diagnosed with POIKTMP. Protein modeling indicated that the mutation p.Phe416Ser dramatically changed the protein structure, especially its structural stability, and affected the protein function. This is the first report of POIKTMP in a Chinese family due to a novel FAM111B mutation. Furthermore, we have reviewed the genotype-phenotype correlation, differential diagnoses and management of POIKTMP.

Contracture of the flexor hallucis longus (FHL) tendon is one of the most common factors leading to hallux flexion deformity. Few cases treated by arthroscopic technology have been reported. In this article, we perform a new method to lengthen the FHL tendon under an arthroscope. We present a case of 1 patient treated with this technique and followed for 2 years. The appearance of his halluces remarkably improved at the follow-up visits, and movement was refined simultaneously. From the satisfactory effect of this operation, lengthening the FHL tendon under arthroscope is an effective method to correct flexion deformity of the hallux with minimal incisions. This technique also provides an innovative application of minimally invasive surgeries to treat clinically infrequent diseases.