Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, EarlyView.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Favorable outcome of total hip arthroplasty with insufficient bone coverage of the roof reinforcement ring: a case report [PDF]
, 2014 A 59-year-old male patient underwent a total hip arthroplasty for the treatment of end-stage dysplastic osteoarthritis. A roof reinforcement ring, a cemented polyethylene cup, and a cementless stem were used.
Caetano, M +5 more
core
Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva. [PDF]
, 1993 Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.
Beluffi G +4 more
core +1 more source
Chondrocyte Phenotype and Ectopic Ossification in Collagenase-induced Tendon Degeneration [PDF]
Journal of Histochemistry & Cytochemistry, 2008 We report chondrocyte phenotype and ectopic ossification in a collagenase-induced patellar tendon injury model. Collagenase or saline was injected intratendinously in one limb. The patella tendon was harvested for assessment at different times.
Pauline Po-yee, Lui +4 more
openaire +2 more sources
Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature
Clinical Genetics, EarlyView.The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley +6 more
wiley +1 more source
Mapping the murine TMJ glenoid fossa over development, homeostasis and in response to disease
Journal of Anatomy, EarlyView.The fibrocartilage of the murine glenoid fossa and condyle of the temporomandibular joint are shown to form at distinct times with distinct molecular identities. Changes in the condyle during disease lead to remodelling of the fossa to maintain joint alignment.
Ticha Tuwatnawanit +4 more
wiley +1 more source
The Main Biomechanical Risk Factors for the Prevalence of the Left Hip Joint Traumatic and Degenerative Changes [PDF]
, 2009 The aim of this paper is to examine characteristic biomechanical features leading to the acetabular fracture and hip joint arthrosis, and to explain the prevalence of the left side traumatic and degenerative pelvic pathology that is usually seen in ...
Borislav Has +5 more
core +1 more source
Pulse low-intensity electromagnetic field as prophylaxis of heterotopic ossification in patients with traumatic spinal cord injury [PDF]
, 2009 Background/Aim. Heterotopic ossification (HO) is an important complication of head and spinal cord injuries (SCI). Pulse low-intensity electromagnetic field (PLIMF) therapy increases blood flow to an area of pain or inflammation, bringing more oxygen to ...
Brdareski Zorica +4 more
core +1 more source
Facing complications of direct anterior approach in total hip arthroplasty during the learning curve [PDF]
, 2020 This study aims to evaluate complications and early postoperative clinical outcomes of direct anterior approach (DAA) in total hip arthroplasty (THA)
Ceccato, Alberto +7 more
core +1 more source
Total hip arthroplasty monobloc stem neck rupture in patient with massive heterotopic ossifications: a case report and literature review [PDF]
, 2023 Background and aim of the work: Fractures of the femoral stem neck are a rare complication in hip prosthetic surgery, especially in non-modular components.
Barbo, Giovanni +4 more
core +1 more source