ObjectiveThe purpose of this study was to review the short- and long-term clinical and radiological results of intramedullary compression screw fixation of proximal fifth metatarsal fractures in athletes.MethodsEleven male and six female active patients with fifth metatarsal zone II and zone III fractures fixed with a 4.5-mm cannulated compression screw were evaluated by chart review, review of radiographs, and clinical evaluation. Fifteen of the patients were high-level athletes (soccer: n=11; basketball: n=1; track and field: n=3) and two were recreational-level athletes. Mean follow-up from surgery to evaluation was 54 (38-70) months.ResultsMean time to healing as shown on radiographs and mean time to return to full activity after surgery were 7.3 and 7.5 weeks, respectively. All patients were able to return to their previous levels of activity. There were no reports of union delay, nonunion or refracture to date.ConclusionIn our patients, cannulated screw fixation of proximal fifth metatarsal fractures was a reliable procedure with low morbidity associated that provided athletes a quick return to activity. Level of Evidence I, Case Series.
Objective: The aim of this study was to review cases that underwent surgical treatment using two techniques: trapeziectomy with or without ligamentoplasty and arthroplasty with implant. Methods: Fifty-two hands that were surgically treated for rhizarthrosis between 1995 and 2008 were evaluated: 32 cases of trapeziectomy with or without ligamentoplasty (group A) and 20 with implant arthroplasty (group B). The mean follow-up for group A was 72 months and for group B, 23 months. There were no significantly different results with regard to pain, activities of daily living, mobility or strength. In the radiographic evaluation, it was found that the scaphometacarpal height was better preserved in group B. The mean time taken to achieve recovery was 10 weeks in group A and 4.5 in group B. Four cases with complications were recorded: one case of algoneurodystrophy in group A and two cases of dislocation and one case of fracture of the trapezium in group B. Results: The results from prostheses were better than the results from the traditional treatment for rhizarthrosis using trapeziectomy with or without ligamentoplasty because of the rapid recovery that prostheses provide. Conclusion: However, prostheses should be applied carefully, because there is a potential for complications relating to the implants.
Background Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITGB3-related thrombocytopenia. Objectives To describe a series of patients with familial macrothrombocytopenia and decreased expression of αIIbβ3 integrin due to defects in the ITGA2B or ITGB3 genes. Methods We reviewed the clinical and laboratory records of 10 Portuguese families with GTLS (33 patients and 11 unaffected relatives), including the functional and genetic defects. Results Patients had absent to moderate bleeding, macrothrombocytopenia, low αIIbβ3 expression, impaired platelet aggregation/ATP release to physiological agonists and low expression of activation-induced binding sites on αIIbβ3 (PAC-1) and receptor-induced binding sites on its ligand (bound fibrinogen), upon stimulation with TRAP-6 and ADP. Evidence for constitutive αIIbβ3 activation, occurred in 2 out of 9 patients from 8 families studied, but also in 2 out of 12 healthy controls. We identified 7 missense variants: 3 in ITGA2B (5 families), and 4 in ITGB3 (5 families). Three variants (αIIb: p.Arg1026Trp and p.Arg1026Gln and β3: p.Asp749His) were previously reported. The remaining (αIIb: p.Gly1007Val and β3: p.Thr746Pro, p.His748Pro and p.Arg760Cys) are new, expanding the αIIbβ3 defects associated with GTLS. The integration of the clinical and laboratory data allowed the identification of two GTLS subgroups, with distinct disease severity. Conclusions Previously reported ITGA2B and ITGB3 variants related to thrombocytopenia were clustered in a confined region of the membrane-proximal cytoplasmic domains, the inner membrane clasp. For the first time, variants are reported at the outer membrane clasp, at the transmembrane domain of αIIb, and at the membrane distal cytoplasmic domains of β3. This is the largest single-center series of inherited macrothrombocytopenia associated with αIIbβ3 variants published to date.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). Complete DNA sequencing of CYP21A2 was performed in 5 patients, 3 non-classic and 2 classic forms of the disease, that were previously screened for the 10 most common mutations, in order to detect additional mutations that could justify the phenotype of the patients. 5 mutations were identified with the whole gene extended analysis. The mutations, p.Pro432Leu and p.Ala434Glu, the first previously reported by our group and the second a novel one were structurally analyzed with ICM-Pro software regarding biochemical properties such as protein stability, accessibility to surface and hydrophobicity, in order to elucidate their effects on the CYP21A2 protein. The 2 affected residues, Pro432 and Ala434, were also studied for conservation purposes in order to predict the severity of both mutations with PolyPhen-2 software and were considered as "probably damaging". Prediction of clinical severity, based on molecular modelling and sequence conservation, was in accordance with the patient's clinical diagnosis.
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