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1.
Am J Med Genet A ; 191(3): 846-849, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36529632

RESUMEN

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective-tissue disorder with vascular and musculoskeletal abnormalities similar to Marfan syndrome. However, unlike Marfan, retinal detachment (RD) is rarely reported, and screening protocols do not currently feature ophthalmic assessment or RD counseling. We report a 5-generation family affected by LDS, where RD occurred in six eyes of four individuals. The proband was an 84-year-old male recently diagnosed with type-V LDS (TGFß3 pathogenic variant c.899G>A, p.(Arg300Gln)). Further investigation was undertaken into the family's medical history. The proband experienced bilateral rhegmatogenous RD at age 60, requiring emergency surgical repair. Other notable ophthalmic features include unusual keratometry, abnormal biometry, and severe hayfever requiring long-term sodium cromoglycate treatment. The proband's sister, father, and uncle had also experienced RDs, all prior to LDS diagnosis. This series demonstrates that RD risk may be significant in LDS, and on occasion the presenting clinical feature. We suggest ophthalmic examination should be added to the initial assessment LDS patients, and patients informed of the early warning symptoms of retinal detachment. As in Marfan syndrome, LDS patients may exhibit cornea plana and abnormal corneal topography, producing atypical biometry. They may also present with allergic conjunctivitis, and awareness of these signs might facilitate earlier diagnosis.


Asunto(s)
Enfermedades del Tejido Conjuntivo , Síndrome de Loeys-Dietz , Síndrome de Marfan , Desprendimiento de Retina , Masculino , Humanos , Persona de Mediana Edad , Anciano de 80 o más Años , Síndrome de Loeys-Dietz/complicaciones , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/genética , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/etiología , Síndrome de Marfan/complicaciones , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Ojo
2.
Strategies Trauma Limb Reconstr ; 19(1): 32-35, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38752193

RESUMEN

Introduction: Tibial osteomyelitis can follow open fractures with bacteria colonising the wound and persisting through biofilm and sequestrum formation. The treatment is complex, requiring eradication through debridement before limb reconstruction, for which the Taylor spatial frame (TSF) is one option. This study evaluates patient outcomes after reconstruction and identifies factors associated with post-operative complications. Materials and methods: Fifty-one cases of tibial osteomyelitis were treated by the Ilizarov technique from 2015 to 2021 at a major trauma centre. Bacterial samples and treatment factors were assessed. Patient outcomes were complication rates and time to bony union. Complications were expressed as odds-ratios (OR) with 95% confidence intervals. Linear regression was used to assess factors associated with time to union. Results: The mean follow-up was 24.1 months with the mean time to radiological union being 11 months. Post-operative complications were noted in 76.5% of patients with pin-site infections most common (52.9%), followed by fracture malunion (29.4%). Smoking was associated with increased fracture malunion (OR = 4.148, 95% confidence Interval [1.13-15.18], p = 0.031). The time to union was positively associated with complications, age and time to full weight-bearing (FWB). All other measured factors were found not significant. Conclusion: Tibial osteomyelitis is treated reliably by debridement and reconstruction using the Ilizarov technique using a TSF application. The most common complication was pin-site infection. Optimising patients through cessation of smoking and encouraging post-operative weight-bearing can reduce the complication rate and improve time to union. Clinical significance: The Ilizarov technique using a TSF can treat significant deformities that result from the management of tibial osteomyelitis. How to cite this article: Geetala R, Zhang J, Maghsoudi D, et al. The Use of the Taylor Spatial Frame in Treating Tibial Osteomyelitis Following Traumatic Tibial Fracture. Strategies Trauma Limb Reconstr 2024;19(1):32-35.

3.
J Surg Case Rep ; 2022(3): rjac064, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35350211

RESUMEN

A 49-year-old patient, with a maternal history of arthritis, presented with an extra-capsular lump of the left knee. Following magnetic resonance imaging (MRI) scan and excision biopsy, the lump proved to be a benign ganglion cyst. The scan had also shown focal subchondral cyst formation and articular cartilage wear in the medial femoral condyle and patella, with no other abnormality. Four years later, she presented with identical symptoms and signs in the right knee. MRI scan confirmed a symmetrical pattern of ganglion and subchondral cyst location and size. Although both ganglion and subchondral cysts of the knee are common, their development is poorly understood and this combination of cyst formation and chondral wear has not been previously documented. Symmetry of end-stage knee osteoarthritis (OA) is recognized by clinicians. We speculate that OA of the knee begins asymptomatically with point-specific loss of articular cartilage, typically reflecting an inherent and bilateral vulnerability to degeneration.

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