Partial repair in irreparable rotator cuff tear: our experience in long-term follow-up.

AIM OF THE WORK: Massive rotator cuff tears are a common source of shoulder pain and dysfunction, especially in middle age patient; these lesions represent about 20% of all rotator cuff tears and 80% of recurrent tears. Some lesions are not repairable or should not be repaired: in this case, a rotator cuff partial repair should be recommended. The aim of the study is to evaluate the outcome of rotator cuff partial repair in irreparable rotator cuff massive tear at medium and long-term follow-up. MATERIALS AND METHOD: We have evaluated 74 consecutive patients treated with functional repair of rotator cuff by the same surgeon between 2006 and 2014. We divided patients into 2 groups, obtaining 2 average follow-up: at about 6,5 (group A) and 3 years (group B). In December 2015, we evaluated in every patient ROM and Constant Score. We analyzed difference between pre-operatory data and the 2 groups.  Results: We found statistical significant difference in ROM and in Constant Score between pre-operatory data and group A and group B. Between group A and group B there is relevant difference in Constant Score but not in ROM. CONCLUSIONS: Partial repair can give good results in a medium follow-up, in terms of pain relief and improvement of ROM, as well as in quality of life. Difference in ROM and Constant Score between group A and group B may indicate the begin of partial repair failure; according to our data, 6-7 years may be the time limit for this surgery technique.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

OBJECTIVE: Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure. The distinction between the two forms is critical for female patients, as it may allow to predict fertility and to plan an appropriate therapy. Identifying an underlying causative mutation is not always predictive of the clinical type of BPES since genotype-phenotype correlations are not yet fully delineated. Here, we describe the clinical and hormonal phenotypes of three female patients with BPES type 1 from two novel families, correlate their phenotypes with identified mutations, and investigate the effects of hormone replacement therapy (HRT). METHODS: Clinical, biochemical, and genetic evaluation were undertaken in all the patients and genotype-phenotype correlation was analyzed. The effects of substitutive hormonal therapy on secondary sexual characteristics development and induction of menarche were evaluated. RESULTS: All patients presented with primary amenorrhea or other signs of ovarian dysfunction. Two distinct mutations, a missense p.H104R change and an in-frame p.A222_A231dup10 duplication in the FOXL2 gene were identified. Observed phenotypes were not in accordance with the prediction based on the current genotype-phenotype correlations. HRT significantly improved secondary sexual characteristics development, as well as the induction of menarche. CONCLUSIONS: This study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy and follow-up in female patients carrying distinct FOXL2 mutations.

Immunohistochemical localization of beta-endorphin in hyperplastic interstitial tissue of the human testis.

The immunohistochemical localization of beta-endorphin in the normal testis (two patients) and in the pathologic testis (two cases of Sertoli Cell Only Syndrome, two cases of Klinefelter Syndrome, two cases of post-orchitis tubular sclero-hialinosis) was investigated. No beta-endorphin immunostaining was detected in the normal testis, while positive beta-endorphin immunostaining has been observed in pathologic tissues. These results indicate that, as in animals, beta-endorphin is present in human Leydig cells and may play a local role in regulating male reproductive function.