Evaluation of a large set of patients with Autoimmune Polyglandular Syndrome from a single reference centre in context of different classifications.

PURPOSE: To characterize patients with APS and to propose a new approach for their follow-up. Query ID="Q1" Text="Please check the given names and familynames." METHODS: Monocentric observational retrospective study enrolling patients referred to the Outpatients clinic of the Units of Endocrinology, Diabetology, Gastroenterology, Rheumatology and Clinical Immunology of our Hospital for Autoimmune diseases. RESULTS: Among 9852 patients, 1174 (11.9%) [869 (73.9%) female] were diagnosed with APS. In 254 subjects, the diagnosis was made at first clinical evaluation (Group 1), all the other patients were diagnosed with a mean latency of 11.3 ± 10.6 years (Group 2). Group 1 and 2 were comparable for age at diagnosis (35.7 ± 16.3 vs. 40.4 ± 16.6 yrs, p = .698), but different in male/female ratio (81/173 vs 226/696, p = .019). In Group 2, 50% of patients developed the syndrome within 8 years of follow-up. A significant difference was found after subdividing the first clinical manifestation into the different outpatient clinic to which they referred (8.7 ± 8.0 vs. 13.4 ± 11.6 vs. 19.8 ± 8.7 vs. 7.4 ± 8.1 for endocrine, diabetic, rheumatologic, and gastroenterological diseases, respectively, p < .001). CONCLUSIONS: We described a large series of patients affected by APS according to splitters and lumpers. We propose a flowchart tailored for each specialist outpatient clinic taking care of the patients. Finally, we recommend regular reproductive system assessment due to the non-negligible risk of developing premature ovarian failure.

Proximal humeral fracture fixation: multicenter study with carbon fiber peek plate.

BACKGROUND: Locking plate fixation is a reliable treatment for many displaced proximal humeral fractures. Carbon fiber-reinforced-poly-ether-ether-ketone (CFR-PEEK) plates have recently been introduced as an alternative to traditional metallic plates. METHODS: In a multicenter study involving the Orthopedic Services of 6 Italian hospitals, 182 patients with a proximal humeral fracture were treated with a Diphos H (Lima Corporate, San Daniele del Friuli, Italy) CFR-PEEK plate, 160 of whom were followed clinically and radiographically for 2 years or more. Fractures were classified by Neer's system. The functional results were assessed by Constant and DASH scores. RESULTS: The average time to radiographic healing was 5.6 months in 158 of 160 cases. Mean Constant score was 76, and mean DASH score was 28 at 2 years. There were two nonunions (one septic and one aseptic) and 13 cases of partial (9) or massive (4) humeral head necrosis. In three of the 78 patients treated with the first-generation plates, hardware breakage happened during the operation and the plate was replaced. There was no failure among the cases treated with the thicker second-generation plate. In eight cases, there was a perforation of the humeral head by the cephalic screws. CONCLUSIONS: CFR-PEEK plates proved as reliable as metallic plates in the treatment of proximal humeral fractures. The advantages of these new devices include a better visualization of fracture reduction during intraoperative fluoroscopic assessment and easy hardware removal due to the absence of screw-plate cold fusion.

Geopolymerisation of silt generated from construction and demolition waste washing plants.

Recycling plants that size, sort and wash construction and demolition waste can produce high quality aggregate. However, they also produce up to 80ton per hour of filter cake waste containing fine (<63mum) silt particles that is classified as inert waste and normally landfilled. This research investigated the potential to form geopolymers containing silt, which would allow this problematic waste to be beneficially reused as aggregate. This would significantly improve the economic viability of recycling plants that wash wastes. Silt filter cakes have been collected from a number of aggregate washing plants operating in the UK. These were found to contain similar aluminosilicate crystalline phases. Geopolymer samples were produced using silt and silt mixed with either metakaolin or pulverised fuel ash (PFA). Silt geopolymers cured at room temperature had average 7-day compressive strengths of 18.7MPa, while partial substitution of silt by metakaolin or PFA increased average compressive strengths to 30.5 and 21.9MPa, respectively. Curing specimens for 24h at 105 degrees C resulted in a compressive strength of 39.7MPa and microstructural analysis confirmed the formation of dense materials. These strengths are in excess of those required for materials to be used as aggregate, particularly in unbound applications. The implications of this research for the management of waste silt at construction and demolition waste washing plants are discussed.

[The M/SAR elements of the bithorax complex in Drosophila melanogaster].

The bithorax (BX) complex of Drosophila is a complex polygenic region with a multifactorial system of regulation. One of the levels of the regulatory system of the BX complex is its association with the nuclear skeleton structures through a specific interaction of the M/SAR DNA with the nuclear matrix proteins. In the present work, M/SAR elements were mapped on the molecular-genetic map of the region. All of the elements examined were found to colocalize with regulatory elements and form clusters that restrict/bracket the genetically active domains. All M/SAR DNA revealed was shown to bins specifically to the purified Drosophila melanogaster lamin.

Drosophila chromosome condensation proteins Topoisomerase II and Barren colocalize with Polycomb and maintain Fab-7 PRE silencing.

Mechanisms of cellular memory control the maintenance of cellular identity at the level of chromatin structure. We have investigated whether the converse is true; namely, if functions responsible for maintenance of chromosome structure play a role in epigenetic control of gene expression. We show that Topoisomerase II (TOPOII) and Barren (BARR) interact in vivo with Polycomb group (PcG) target sequences in the bithorax complex of Drosophila, including Polycomb response elements. In addition, we find that the PcG protein Polyhomeotic (PH) interacts physically with TOPOII and BARR and that BARR is required for Fab-7-regulated homeotic gene expression. Conversely, we find defects in chromosome segregation associated with ph mutations. We propose that chromatin condensation proteins are involved in mechanisms acting in interphase that regulate chromosome domain topology and are essential for the maintenance of gene expression.

Ultrasound and MRI for the long-term evaluation of surgical repair of the rotator cuffs.

About 1 year after surgery to repair the rotator cuff, a total of 20 patients (80% monotendinous injuries, 20% bitendinous injuries) were submitted to ultrasound and MRI to evaluate repair, quality of residual tissue, and to reveal any discrepancies between the two instrumental tests. The results showed that there was normal tendinous integrity in 16 cases (group A), while there were partial injuries, without evidence of complete lesion, in 4 cases (group B); tendinous thinning was evident in 10 patients (50%), while there were areas of intratendinous degeneration in 40% of the cases. The authors observed agreement between the data obtained by the two methods in 75% of cases, and emphasize the effectiveness of the two methods in postoperative evaluation of the cuff; they also confirm the tendinous dishomogeneousness observed in the patients in group B, not associated with poor clinical results, considering the absence of significant differences in the functional results between the two groups.

Variations in method in the use of the coracoacromial ligament for the surgical treatment of acromioclavicular dislocations.

Many authors have used the coracoacromial ligament to treat acromioclavicular dislocations. The variation in method proposed in this study includes: a) detachment of the coracoacromial ligament from the acromial aspect, b) its section into two bands, medial and lateral, of which one inserted by means of a transosseous hole at the clavicle and the second one anchored bridge-like on the clavicle suturing it to the soft tissues; c) temporary fixation of the acromioclavicular joint by means of a Kirschner wire or Ghisellini screw pin that is threaded at one end. The study conducted may be considered preliminary, as the series is constituted by 16 patients affected with grade IV acromioclavicular displacement according to Rockwood, acute in 13 cases and inveterate in 3. The results which were excellent and good in terms of pain, recovery of range of movement, and the subjective opinion of the patients, reveals a subdislocation measuring from 3 to 5 mm in 2 patients in our series. Currently, the hypothesis may be advanced that the variation in the method described may have the advantage of guaranteeing physiological anchoring of the ligament to the clavicle and thus providing a greater guarantee should trauma occur in the future.

Surgery in massive ruptures of the rotator cuff: results as related to prognosis.

The results obtained in the surgical treatment of massive lesions of the rotator cuff are quite often inferior to what is expected, because prognosis is not respected. To demonstrate that the quality of the results obtained is directly proportional to the preoperative prognostic factors a retrospective study was conducted on 28 patients submitted to massive lesion repair of the rotator cuff between 1990 and 1996; the criteria of inclusion was: a) patients aged under 65 years; b) preoperative radiographic findings with acromiohumeral distance not less than 6 mm; c) degeneration of the tendons not greater than a Goutallier stage 2; d) absence of inveterate pseudoparalysis of the limb involved; e) absence of anterosuperior subdislocation of the humeral head. The results obtained with a mean follow-up of 5 years revealed a mean Constant score of 85 points (minimum 79, maximum 91) that may correspond to excellent results, showing how this type of surgery may guarantee good results only when factors of prognosis are respected preoperatively.

Neer capsular shift surgery in the treatment of recurrent antero-inferior shoulder dislocations.

A total of 47 patients affected with recurrent multidirectional shoulder dislocation with a prevalent anteroinferior component were submitted to Neer inferior capsular shift surgery. Bankart lesion, present in 24 patients, was repaired prior to performing capsuloligamentous surgery. The patients included in the study presented with generalized ligamentous hyperlaxity in 20 cases, while hyperlaxity was localized in the pathological shoulder in the remaining cases, presumably related to the high number of dislocations. The choice of performing Neer inferior capsular shift surgery was initially based on the data and the modern conceptions that emerged in the literature. Successively, the good results obtained encouraged us to follow the path taken, and we are currently encouraged to advise this surgical procedure for the category of patients mentioned above.

Immunodetection of the 33 K/92 K polymerase proteins in cymbidium ringspot virus-infected and in transgenic plant tissue extracts.

An antiserum was raised against the 33 K protein encoded by the 5' proximal gene of cymbidium ringspot tombusvirus RNA. This antiserum reacts specifically with the 33 K and 92 K proteins, which constitute the viral replicase, in CyRSV-infected Nicotiana benthamiana plants and in transgenic plants transformed with the full-length replicase gene. In inoculated leaves of infected plants, synthesis of the 33 K/92 K proteins stops ten days after inoculation, whereas in newly produced systemically infected leaves there was continuous production of these proteins. In transgenic plants, both proteins were detected showing that readthrough of the termination codon of the 33 K protein does not depend on the presence of the replicating virus. The subcellular localization of the 33 K/92 K proteins is similar in infected and transgenic plants. No correlation was found between the level of expression of integrated virus gene and level of resistance to the challenging virus.

Resistance to cymbidium ringspot tombusvirus infection in transgenic Nicotiana benthamiana plants expressing the virus coat protein gene.

Transgenic Nicotiana benthamiana plants expressing the coat protein gene of cymbidium ringspot virus (CyRSV) were tested for resistance against infection with CyRSV. Transgenic plants showed resistance to infection only when the purified virions concentration in the inoculum was as low as 0.05 micrograms/ml. No protection was observed in transgenic plants inoculated with virion concentrations of 0.5 and 5.0 micrograms/ml or when the inoculum was in vitro synthesized genomic RNA.

Glycated proteins in elderly type II diabetic patients: role of age and serum protein concentration.

In an attempt to evaluate the clinical significance of fructosamine (F) and glycated haemoglobin (HbA1c) values in elderly diabetic patients, 49 patients with mean age 72.0 years and 58 patients with mean age 51.6 years (control group) were studied. No difference was found in F and HbA1c between the two groups, when the degree and duration of glycaemic failure was equal. However, on extrapolating from the two groups those patients with total protein less than or equal to 6.0 g/dl, it was observed that these subjects had F values significantly lower than the other patients studied (p less than 0.001) although there was no difference in the degree and duration of metabolic failure. It was concluded that F and HbA1c can also be used in elderly patients providing they are normoproteinaemic. In the case of hypoproteinaemics, the F values are underestimated and do not correlate with the other indices of glycaemic control.

Team physician #7. A comparative study of functional bracing in the anterior cruciate deficient knee.

We evaluated the ability of three functional knee braces, (CTI, OTI, and TS7) to control anterolateral rotary instability of the knee. Fourteen subjects, none of elite athletic status, with arthroscopically proven anterior cruciate deficient knees were selected. The subjects evaluated each brace after one-month periods, and then underwent testing with physical examinations, KT-1000 arthrometry, and timed running events. All braces reduced subjective symptoms of knee instability. Different subjects preferred different braces. KT-1000 testing showed a reduction in anterior tibial displacement for all braces; however, this reduction did not increase as forces increased. A timed figure-of-eight running event did not show any functional advantage of bracing. Five subluxation events occurred in four subjects while braced. Functional braces appear to have a role in the anterior cruciate deficient knee, but only in conjunction with activity modification.

Orthotic technique for dystonia musculorum deformans.

Tone reducing, inhibitive casting, and orthoses have been effectively used in patients with cerebral palsy and head injury to improve gait patterns and decrease tone. We present a patient with dystonia musculorum deformans who had severe inversion and supination of his left foot with weight bearing. He did poorly with metal double-upright ankle-foot orthoses with lateral T-strap. A tone-reducing ankle-foot orthosis (TRAFO) was successful in decreasing problems with abrasions and allowing him to walk without assistive devices.