Acromioclavicular third degree dislocation: surgical treatment in acute cases

BACKGROUND: The management of acute Rockwood type III acromioclavicular joint (ACJ) dislocation remains controversial, and the debate about whether patients should be conservatively or surgically treated continues. This study aims to compare conservative and surgical treatment of acute type III ACJ injuries in active sport participants (<35 years of age) by analysing clinical and radiological results after a minimum of 24 months follow-up. METHODS: The records of 72 patients with acute type III ACJ dislocations who were treated from January 2006 to December 2011 were retrospectively evaluated. Patients were categorised into two groups. group A included 25 patients treated conservatively, and group B included 30 patients treated surgically with the TightRope™ system. Seventeen patients were lost to follow-up. All patients were evaluated at final follow-up with these clinical scores: Constant, University of California Los Angeles scale (UCLA), American Shoulder and Elbow Surgeons Scale (ASES) and Acromioclavicular Joint Instability (ACJI) and with a subjective evaluation of the patient satisfaction, aesthetic results and shoulder function. The distance between the acromion and clavicle and between the coracoid process and clavicle were evaluated radiographically and compared with preoperative values. Δ, the difference in mm between the distance at the final follow-up and at T0 in the injured shoulder, and α, the side-to-side difference in mm at follow-up, were calculated. Heterotopic ossification and postoperative osteolysis were evaluated in both groups. RESULTS: There were no major intraoperative complications in the surgical group. The subjective parameters significantly differed between the two groups. Constant, ASES and UCLA scores were similar in both groups (P > 0.05), whereas ACJI results favoured the surgical group (group A, 72.4; group B, 87.9; P < 0.05). All measurements of radiographic evaluation were significantly reduced in the surgical group compared with the conservative group. In group A, we detected calcifications in 30% of patients; in group B we detected two cases of moderate osteolysis and calcifications in 70% of patients. CONCLUSION: Although better subjective and radiographic results were achieved in surgically treated patients, traditional objective scores did not show significant differences between the two groups. Our results cannot support routine use of surgery to treat type III ACJ dislocations

Homocysteine, MTHFR C677T gene polymorphism, folic acid and vitamin B 12 in patients with retinal vein occlusion

BACKGROUND: Many available data have suggested that hyperhomocysteinaemia, an established independent risk factor for thrombosis (arterial and venous), may be associated with an increased risk of retinal vein occlusion (RVO). AIM OF THE STUDY: To evaluate homocysteine metabolism in consecutive caucasian patients affected by RVO from Northern Italy. PATIENTS AND METHODS: 69 consecutive patients from Northern Italy (mean age 64.1 ± 14.6 yy) with recent RVO, were tested for plasma levels of homocysteine (tHcy: fasting and after loading with methionine), cyanocobalamine and folic acid levels (CMIA-Abbot) and looking for MTHFR C677T mutation (Light Cycler-Roche) and compared to 50 volunteers, enrolled as a control group. RESULTS: Fasting levels of tHcy were significantly higher in patients than in controls: mean value 14.7 ± 7.7 vs 10.2 ± 8 nmol/ml. Post load levels were also significantly higher: mean value 42.7 ± 23.7 vs 30.4 ± 13.3 nmol/ml; Total homocysteine increase was also evaluated (i.e. Δ-tHcy) after methionine load and was also significantly higher in patients compared to control subjects: mean Δ-tHcy 27.8 ± 21.5 vs 21.0 ± 16 nmol/ml (normal value < 25 nmol/ml). Furthermore, patients affected by RVO show low folic acid and/or vitamin B12 levels, although differences with control group did not reach statistical significance. Heterozygous and homozygous MTHFR mutation were respectively in study group 46% and 29% vs control group 56% and 4%. CONCLUSION: our data confirm that hyperhomocysteinaemia is a risk factor for RVO, and also that TT genotype of MTHFR C677T is more frequently associated with RVO: if the mutation per se is a risk factor for RVO remains an open question to be confirmed because another study from US did not reveal this aspect. Hyperomocysteinemia is modifiable risk factor for thrombotic diseases. Therefore, a screening for tHcy plasma levels in patients with recent retinal vein occlusion could allow to identify patients who might benefit from supplementation with vitamins and normalization of homocysteine levels, in fasting and after methionine load

low molecular weight heparin in women with repeated implantation failure

Implantation failure is common in assisted reproduction techniques (ART). The role of low-molecular-weight heparin (LMWH) is a matter of debate as a potential factor to improve implantation. Aim: To evaluate the pregnancy rate in patients with or without heparin administration. Materials & methods: We performed a retrospective observational analysis of patients with at least two IVF/intracytoplasmic sperm injection cycles with implantation failure, screened for inherited thrombophilia and submitted to further ART cycles with or without administration of LMWH. A total of 265 patients fulfilled the enrollment criteria. Of these 149 (56%) were primary infertile and 116 (44%) were secondary infertile. Their mean age was 36.3 ± 3.6 years. We analyzed basal FSH, smoking habit, gene variants for inherited thrombophilia (i.e., MTHFR C677T, prothrombin G202A10G and Factor V Leiden). The patients underwent 569 new ART cycles: 512 (90%) without and 57 (10%) with LMWH. Results: In total 105 clinical pregnancies were ..

Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers

About 100 km east of Rome, in the central Apennine Mountains, a critically endangered population of ∼50 brown bears live in complete isolation. Mating outside this population is prevented by several 100 km of bear-free territories. We exploited this natural experiment to better understand the gene and genomic consequences of surviving at extremely small population size. We found that brown bear populations in Europe lost connectivity since Neolithic times, when farming communities expanded and forest burning was used for land clearance. In central Italy, this resulted in a 40-fold population decline. The overall genomic impact of this decline included the complete loss of variation in the mitochondrial genome and along long stretches of the nuclear genome. Several private and deleterious amino acid changes were fixed by random drift; predicted effects include energy deficit, muscle weakness, anomalies in cranial and skeletal development, and reduced aggressiveness. Despite this extreme loss of diversity, Apennine bear genomes show nonrandom peaks of high variation, possibly maintained by balancing selection, at genomic regions significantly enriched for genes associated with immune and olfactory systems. Challenging the paradigm of increased extinction risk in small populations, we suggest that random fixation of deleterious alleles (i) can be an important driver of divergence in isolation, (ii) can be tolerated when balancing selection prevents random loss of variation at important genes, and (iii) is followed by or results directly in favorable behavioral changes

Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers

About 100 km east of Rome, in the central Apennine Mountains, a critically endangered population of &sim;50 brown bears live in complete isolation. Mating outside this population is prevented by several 100 km of bear-free territories. We exploited this natural experiment to better understand the gene and genomic consequences of surviving at extremely small population size. We found that brown bear populations in Europe lost connectivity since Neolithic times, when farming communities expanded and forest burning was used for land clearance. In central Italy, this resulted in a 40-fold population decline. The overall genomic impact of this decline included the complete loss of variation in the mitochondrial genome and along long stretches of the nuclear genome. Several private and deleterious amino acid changes were fixed by random drift; predicted effects include energy deficit, muscle weakness, anomalies in cranial and skeletal development, and reduced aggressiveness. Despite this extreme loss of diversity, Apennine bear genomes show nonrandom peaks of high variation, possibly maintained by balancing selection, at genomic regions significantly enriched for genes associated with immune and olfactory systems. Challenging the paradigm of increased extinction risk in small populations, we suggest that random fixation of deleterious alleles (i) can be an important driver of divergence in isolation, (ii) can be tolerated when balancing selection prevents random loss of variation at important genes, and (iii) is followed by or results directly in favorable behavioral changes.Additional co-authors: Claudio Groff, Ladislav Paule, Leonardo Gentile, Carles Vilà, Saverio Vicario, Luigi Boitani, Ludovic Orlando, Silvia Fuselli, Cristiano Vernesi, Beth Shapiro, Paolo Ciucci, and Giorgio Bertorell

SV-IV Peptide1–16 reduces coagulant power in normal Factor V and Factor V Leiden

Native Factor V is an anticoagulant, but when activated by thrombin, Factor X or platelet proteases, it becomes a procoagulant. Due to these double properties, Factor V plays a crucial role in the regulation of coagulation/anticoagulation balance