DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

DJ-1 mutations are associated to early-onset Parkinson's disease and accounts for about 1-2% of the genetic forms. The protein is involved in many biological processes and its role in mitochondrial regulation is gaining great interest, even if its function in mitochondria is still unclear. We describe a 47-year-old woman affected by a multisystem disorder characterized by progressive, early-onset parkinsonism plus distal spinal amyotrophy, cataracts and sensory-neural deafness associated with a novel homozygous c.461C>A [p.T154K] mutation in DJ-1. Patient's cultured fibroblasts showed low ATP synthesis, high ROS levels and reduced amount of some subunits of mitochondrial complex I; biomarkers of oxidative stress also resulted abnormal in patient's blood. The clinical pattern of multisystem involvement and the biochemical findings in our patient highlight the role for DJ-1 in modulating mitochondrial response against oxidative stress.

Posterolateral bundle reconstruction of the anterior cruciate ligament to restore rotational stability of the knee.

Only 5-10% of partial tears of the anterior cruciate ligament (ACL) are symptomatic, especially in high demand individuals or in patients practicing sports requiring rotational motions.. A certain preoperative diagnosis of this condition is challenging and often needs the combination of clinical examination, magnetic resonance imaging (MRI) and knee-laxity tool measurements. However, the arthroscopic examination of the torn ACL bundle is the most important factor in decision-making. Evidence in various studies have shown that the preservation of the ACL remnant and its surgical augmentation can bring important advantages in terms of vascularity and proprioception, resulting in better outcomes. The purpose of our paper was to describe the surgical technique of arthroscopic posterolateral (PL) bundle reconstruction with the preservation of the anteromedial (AM) bundle for ACL partial tears. Moreover, we reported the current knowledge about rationale, diagnosis and treatment of partial tears of ACL.

Cytokine, chemokine, and growth factor profile of platelet-rich plasma.

During wound healing, biologically active molecules are released from platelets. The rationale of using platelet-rich plasma (PRP) relies on the concentration of bioactive molecules and subsequent delivery to healing sites. These bioactive molecules have been seldom simultaneously quantified within the same PRP preparation. In the present study, the flexible Bio-Plex system was employed to assess the concentration of a large range of cytokines, chemokines, and growth factors in 16 healthy volunteers so as to determine whether significant baseline differences may be found. Besides IL-1b, IL-1ra, IL-4, IL-6, IL-8, IL-12, IL-13, IL-17, INF-γ, TNF-α, MCP-1, MIP-1a, RANTES, bFGF, PDGF, and VEGF that were already quantified elsewhere, the authors reported also on the presence of IL-2, IL-5, IL-7, IL-9, IL-10, IL-15 G-CSF, GM-CSF, Eotaxin, CXCL10 chemokine (IP-10), and MIP 1b. Among the most interesting results, it is convenient to mention the high concentrations of the HIV-suppressive and inflammatory cytokine RANTES and a statistically significant difference between males and females in the content of PDGF-BB. These data are consistent with previous reports pointing out that gender, diet, and test system affect the results of platelet function in healthy subjects, but seem contradictory when compared to other quantification assays in serum and plasma. The inconsistencies affecting the experimental results found in literature, along with the variability found in the content of bioactive molecules, urge further research, hopefully in form of randomized controlled clinical trials, in order to find definitive evidence of the efficacy of PRP treatment in various pathologic and regenerative conditions.

The prognostic impact of a combined carbonic anhydrase IX and Ki67 signature in oral squamous cell carcinoma.

BACKGROUND: Tumour hypoxia is associated with impaired apoptosis, resistance to therapy and poor prognosis. We previously reported that high stromal expression of the endogenous marker of hypoxia, carbonic anhydrase IX (CAIX), is associated with significantly reduced survival in oral squamous cell carcinoma (OSCC). In addition to hypoxia, CAIX expression is regulated by proliferation-associated signalling. We hypothesised that incorporating Ki67, a proliferation marker, into our existing CAIX-based stratification of OSCC would identify patients with the least favourable prognosis. METHODS: Surgically resected tumours from 60 OSCC patients were analysed for CAIX, Ki67 and BAX expression using fluorescence immunohistochemistry and automated quantitative analysis (AQUA). RESULTS: In patients expressing high stromal CAIX (sCAIX), stratification by tumour Ki67 expression revealed significantly distinct survival outcomes (P=0.005). In our OSCC cohort, below-median Ki67 and top-quartile sCAIX expression (Ki67(lo)sCAIX(hi)) were associated with significantly worse disease-specific survival in univariate (HR 7.2 (2.5-20.4), P=0.001) and multivariate (HR 4.2 (1.4-12.8), P=0.011) analyses. Hypoxia is associated with decreased BAX expression; the Ki67(lo)sCAIX(hi) group was more strongly associated with low BAX expression than high sCAIX alone. CONCLUSION: These data suggest that combined analysis of tumour Ki67 and sCAIX expression may provide a more clinically relevant assessment of tumour hypoxia in OSCC.

The evolution of personality in patients with mild cognitive impairment.

AIMS: To describe personality traits and their changes in mild cognitive impairment (MCI) and control subjects. METHODS: Sixty-three MCI and 90 control subjects were asked to describe their current personality traits by the Structured Interview for the Five-Factor Model (SIFFM). For each subject, a close relative retrospectively assessed these descriptions both as to the previous and current personality traits, using the Revised NEO Personality Inventory, Form R (NEO-PI-R). RESULTS: Self-assessed MCI subjects reported significantly lower scores in the openness dimension than control subjects [F(1, 150) = 9.84, p = 0.002, ηp(2) = 0.06]. In current observer ratings, MCI subjects had higher scores on neuroticism [F(1, 137) = 7.55, p = 0.007, ηp(2) = 0.05] and lower ones on extraversion [F(1, 137) = 6.40, p = 0.013, ηp(2) = 0.04], openness [F(1, 137) = 9.93, p = 0.002, ηp(2) = 0.07], agreeableness [F(1, 137) = 10.18, p = 0.002, ηp(2) = 0.07] and conscientiousness [F(1, 137) = 25.96, p < 0.001, ηp(2) = 0.16]. Previous personality traits discriminated the groups as previous openness [odds ratio (OR) = 0.97, 95% confidence interval (CI) = 0.95-0.99, p = 0.014] and conscientiousness (OR = 0.96, 95% CI 0.94-0.98, p = 0.001) were negatively related to MCI group membership. In MCI subjects, conscientiousness [F(1, 137) = 19.20, p < 0.001, ηp(2) = 0.12] and extraversion [F(1, 137) = 22.27, p < 0.001, ηp(2) = 0.14] decreased between previous and current evaluations and neuroticism increased [F(1, 137) = 22.23, p < 0.001, ηp(2) = 0.14], whereas no significant change was found in control subjects. CONCLUSIONS: MCI subjects undergo significant personality changes. Thus, personality assessment may aid the early detection of dementia.

Epidemiology of rotator cuff surgery in Italy: regional variation in access to health care. Results from a 14-year nationwide registry.

PURPOSE: Rotator cuff (RC) disease is frequent and represents a common source of shoulder pain. The aim of this study is to analyse geographical differences in RC surgeries from 2001 to 2014 in Italy, a country with universal and free health care for its population. METHODS: An analysis of the Italian National Hospital Discharge records from 2001 to 2014 was performed. These data are anonymous and include patient's age, sex, domicile, region of hospitalization, length of the hospitalization and type of reimbursement (public or private). National and regional population data were obtained from the National Institute for Statistics (ISTAT) for each year. RESULTS: During the 14-year study period, 390,001 RC repairs were performed in Italy, which represented a mean incidence of 62.1 RC procedures for every 100,000 Italian inhabitants. Nevertheless, the incidence was very different if every single regional population is considered individually. Lombardy resulted to have the highest number of surgeries during the 14-year study period, with 27.95% (108,954) of the total national procedures performed in the 2001-2014 time span. More than half the surgeries (52.00%) were performed in only 3 regions of the northern part of Italy. CONCLUSIONS: This study shows the existence of geographical disparities in access to RC surgery and patients' necessity to migrate among regions in order to obtain it. Southern regions of Italy are characterized by a lower number of surgeries compared to the northern part of Italy.

Reverse shoulder arthroplasty for massive irreparable rotator cuff tears and cuff tear arthropathy: a systematic review.

PURPOSE: To report the outcomes and complications of reverse shoulder arthroplasty (RSA) in massive irreparable rotator cuff tears (MIRCT) and cuff tear arthropathy (CTA). METHODS: A systematic review of the literature contained in Medline, Cochrane, EMBASE, Google Scholar and Ovid databases was conducted on May 1, 2016, according to PRISMA guidelines. The key words "reverse total shoulder arthroplasty" or "reverse total shoulder prostheses" with "rotator cuff tears"; "failed rotator cuff surgery"; "massive rotator cuff tears"; "irreparable rotator cuff tears"; "cuff tear arthropathy"; "outcomes"; "complications" were matched. All articles reporting outcomes and complications of RSA for the management of MIRCT or CTA were included. The comparison between preoperative and postoperative clinical scores, as well as range of motion (ROM), was performed using the Wilcoxon-Mann-Whitney test. P values lower than 0.05 were considered statistically significant. RESULTS: Seven articles were included in our qualitative synthesis. A statistically significant improvement in all clinical scores and ROM was found comparing the preoperative value with the postoperative value. The degrees of retroversion of the humeral stem of the RSA do not influence the functional outcomes in a statistically significant fashion. There were 17.4% of complications. The most frequent was heterotopic ossification, occurring in 6.6% of patients. Revision surgery was necessary in 7.3% of patients. CONCLUSIONS: RSA restores pain-free ROM and improves function of the shoulder in patients with MIRCT or CTA. However, complications occur in a high percentage of patients. The lack of level I studies limits the real understanding of the potentials and limitations of RSA for the management of MIRCT and CTA.

Reverse total shoulder arthroplasty for the management of fractures of the proximal humerus: a systematic review.

Reverse total shoulder arthroplasty (RTSA) represents a good solution for the management of patients with fracture of the proximal humerus with associated severe osteoporosis and RC dysfunction. A systematic review of the literature according to the PRISMA guidelines was performed matching the following keywords: "reverse total shoulder arthroplasty"; "reverse total shoulder prostheses"; "fractures"; "fracture of the proximal humerus." Medline, EMBASE, Google Scholar, and Ovid database have been screened. Ten studies were considered in the qualitative analysis. No randomized prospective controlled trials have been found. A total of 256 patients received a RTSA for the management of fracture of the proximal humerus. There were 28 males (10.8 %) and 228 females (89.2 %). The mean age of patients was 75.5 ± 2.2 years (range 70-78 years). The mean follow-up period was 27.8 ± 21.8 months range (6-86 months). Overall, the mean Constant score was 56.7 ± 7.6 points (range 44-67.8 points), the mean DASH score was 39.9 ± 6 points (range 31.5-46.8 points), the ASES averaged 70.3 ± 6.8 points (range 65-78 points), and the OSS averaged 28.7 points (range 15-56 points). RTSA restores function and relieves pain in patients with proximal humeral fractures. However, no randomized controlled trials are available to support RTSA versus osteosintesis, anatomical prostheses or hemiarthroprotesis. Further studies are needed to evaluate the effectiveness of RTSA in the management of fracture of the proximal humerus.

Deltoid muscle tropism does not influence the outcome of arthroscopic rotator cuff repair.

BACKGROUND: Several different factors have been identified as causes of failure of rotator cuff (RC) repair. However, no studies focused on the role of the deltoid muscle. The aim of this study was to investigate the role of the deltoid tropism in the outcomes of arthroscopic RC repair procedures. MATERIALS AND METHODS: Nine male (45 %) and 11 female (55 %) patients who underwent arthroscopic RC repair were included in the study. The mean age was 63.5 ± 8.1 years (range 50-74 years), and the follow-up averaged 1.9 ± 1.3 years (range 1-5 years) after surgery. Clinical outcomes were assessed using the modified University of California, Los Angeles (UCLA) shoulder rating scale, Wolfgang criteria shoulder score and Oxford shoulder score (OSS). Functional outcomes were evaluated considering active and passive range of motion of the shoulder and muscle strength. The deltoid tropism was measured pre-operatively and post-operatively using T2-weighted transverse MRI images. RESULTS: No statistically significant correlation was found between the thickness of each portion of the deltoid muscle (vD, lD and dD) and the UCLA shoulder rating scale, Wolfgang shoulder score and OSS. At the same time, no statistically significant relationship was detected between the thickness of each portion of the deltoid muscle (vD, lD and dD) and the functional outcomes. CONCLUSIONS: The deltoid tropism does not influence the results of arthroscopic RC repair. Early RC repair may prevent the reduction in the tropism of the deltoid muscle. Nevertheless, further prospective randomized studies with larger samples are necessary to clarify the role of deltoid tropism in the outcomes of arthroscopic RC repair procedures.

Collaborative preceptor training: a creative approach in tough times.

Rapid changes in the health care environment have challenged educators to find more efficient methods of developing nurses. These demands are leading to the use of collaborative approaches to education. Nurse educators have also found that they have to rely on preceptors for orientation of new employees. The Texas Medical Center Collaborative Preceptor Program was developed in 1989 to prepare nursing preceptors for all nine participating institutions. The goals of the program were to increase efficient use of instructor time, standardize preceptor preparation in the Texas Medical Center, and offer more programs and prepare more nurses per year than each individual institution could do alone. There were many unexpected benefits as well, and future plans for collaboration are already being formulated.

Dysgraphia and selective impairment of the graphemic buffer.

We report the linguistic analysis of a case of pure dysgraphia whose features suggest a selective deficit of the graphemic buffer. We discuss the neuropsychological pattern in the light of theoretical models of the cognitive processes considered to underlie writing skills.

[Neurolinguistic analysis of a case of pure agraphia]. / Analisi neurolinguistica di un caso di agrafia pura.

A patient with a pure acquired dysgraphia is reported. The pattern of the patient's performance is discussed in relation to current functional models of writing. The case may be interpreted by assuming a selective impairment to the graphemic buffer.

Transcranial unifocal stimulation in rabbit: subcutaneous and meningeal changes.

The possible acute morphological changes induced by electrical transcranial unifocal stimulation (eTCS) in the rabbit extracerebral tissues were studied by light and scanning electron microscopy. In order to do this, a wide range of electric stimuli with respect to those employed in the clinical practice were utilized. Either surface electrodes were attached to the scalp, or needle electrodes were infixed in the subcutaneous tissue. Beneath the cathode a blood extravasation was constantly observed in the subcutaneous tissue of the scalp; the different electrode arrays produced either a large hemorrhagic lesion or a few petechiae. Beneath the anode, the damage was limited to the scalp, or reached the meninges when stimuli longer than 0.2 ms were used. Irrespective of the electrode arrays, the scalp and the dura mater displayed hemorrhagic petechiae over a limited area about 2-3 mm in extent. Moreover, the leptomeningeal membrane was microscopically disrupted over an area less than 1 mm large; therein the squamous, overlapping cells were transformed into fusiform or macrophage-like cells. Unduly intense eTCS produces evident hemorrhagic lesions in the scalp and in the dura mater, whereas it induces microscopic, reactive changes in the leptomeninx.