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Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.
Case Rep Endocrinol
December 2024
Henry Ford St. John Hospital, Detroit, Michigan, USA.
Article Synopsis
- A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
- Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
- Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
Navigating the Diagnostic Labyrinth of Scrofuloderma Orbit in Conjunction with Jungling's Disease.
J Maxillofac Oral Surg
December 2024
Department of Oral & Maxillofacial Surgery, Army Dental Centre (Research & Referral), Cantt-10, Delhi, India.
Tuberculosis (TB) manifests in various forms, including extrapulmonary tuberculosis (EPTB), which poses diagnostic dilemmas due to its wide-ranging clinical presentations. When TB affects the bones of the hands and feet, it can present a diagnostic labyrinth for clinicians. In such cases, the differential diagnosis may include Jungling's bone disease, adding complexity to the diagnostic process.
View Article and Find Full Text PDFReconstruction of large post-traumatic segmental femoral defects using vascularised bone flaps: a retrospective case series.
BMC Musculoskelet Disord
November 2024
Centre for Endoscopic, Surgical and Clinical Anatomy (CESKA), Second Faculty of Medicine, Charles University, V Úvalu 84, Prague, Praha, 150 06, Czech Republic.
Background: Large femoral defects after trauma, femoral non-unions, fractures complicated by osteomyelitis or defects after bone tumour resection present high burden and increased morbidity for patient and are challenging for reconstructive surgeons. Defects larger than 6 cm and smaller defects after failed spongioplasty are suitable for reconstruction using a free, eventually a pedicled vascularised bone flap. The free fibular flap is preferred but an iliac crest free flap or a pedicled medial femoral condyle flap can be also used.
View Article and Find Full Text PDFClinical and radiological results of the SIMPLICITI* stemless shoulder arthroplasty: a twenty five patients retrospective cohort.
Int Orthop
December 2024
Orthopedic and Traumatologic Surgery Department, Rouen University Hospital, 37 Boulevard Gambetta, Rouen, France.
Purpose: For preserving the humeral bone stock, some surgeons proposed a stemless humeral prosthetic component. This study reports the functional and radiologic results of the stemless anatomic prosthesis Simpliciti*(Tornier, Wright, Stryker), with the hypothesis that it can achieve a good metaphyseal fixation.
Methods: 28 patients underwent 30 shoulder replacements with the Simpliciti* humeral prosthesis followed for an average of three years (2 months to 8 years).
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.
Eur J Med Genet
December 2024
Department of Radiology, 365 Children's Hospital, Incheon, Republic of Korea.
Heterozygous variants of MATN3 is one of the common causes of multiple epiphyseal dysplasia (MED). Here we report three individuals from two unrelated families who harbor compound heterozygous variants in MATN3 (p.Arg121Trp and p.
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