Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease.

Mummified remains of relevant historical figures are nowadays an important source of information to retrace data concerning their private life and health, especially when historical archives are not available. Next-generation-sequencing was proved to be a valuable tool to unravel the characteristics of these individuals through their genetic heritage. Using the strictest criteria currently available for the validation of ancient DNA sequences, whole-genome and whole-exome sequencing were generated from the mummy remains of an Italian nobleman died almost 700 years ago, Cangrande della Scala. While its genome sequencing could not yield sufficient coverage for in depth investigation, exome sequencing could overcome the limitations of this approach to achieve significantly high coverage on coding regions, thus allowing to perform the first extensive exome analysis of a mummy genome. Similar to a standard "clinical exome analysis" conducted on modern DNA, an in-depth variant annotation, high-quality filtering and interpretation was performed, leading to the identification of a genotype associated with late-onset Pompe disease (glycogen storage disease type II). This genetic diagnosis was concordant with the limited clinical history available for Cangrande della Scala, who likely represents the earliest known case of this autosomal recessive metabolic disorder.

Biomechanical analysis on total knee replacement patients during gait: Medial pivot or posterior stabilized design?

BACKGROUND: Total Knee Replacement surgery restores joint function in patients with advanced osteoarthritis. There are several prostheses available based on different mechanisms, which guarantee knee stability during Activities of Daily Living. The aim of this study is to compare ball-in-socket (or Medial Pivot) and post-cam mechanisms to detect possible differences in terms of biomechanical parameters between these two prosthesis designs and to evaluate which design is closer to physiological biomechanics. METHODS: A kinematics, kinetics and electromyography lower limb analyses were performed during gait on sixty subjects: twenty with Medial Pivot prosthesis, twenty with posterior stabilized prosthesis and twenty healthy subjects to obtain a physiologic reference. FINDINGS: Total Knee Replacement gait pattern for both patient groups were characterized by reduced walking speed, reduced stride length and increased stance time respect to control group. Comparison between Medial Pivot and Posterior Stabilized groups showed a reduction of knee flexion and flexor moment in patients with ball-in-socket mechanism. A prolonged muscular activity of rectus femoris was observed in Medial Pivot patients compared to Posterior Stabilized and control groups. INTERPRETATION: "Stiff knee pattern" mechanism was showed for both patient groups but more enhanced in Medial Pivot patients. Even though the Posterior Stabilized design introduces the non-physiological paradoxical motion and the Medial Pivot design seems to better reproduce the physiological condylar movement as gait analysis parameters, including kinematics, kinetics and electromyographic parameters were closer to control group and, in turn, to physiological gait for the Posterior Stabilized than Medial Pivot group parameters.

On the molecular and morphological evolution of continental and insular Cryptorchestia species, with an additional description of C.garbinii (Talitridae).

Semi-terrestrial talitrid amphipods of the genus Cryptorchestia (sensu Lowry and Fanini 2013) associated with freshwater-soaked leaf litter were known to occur in inland lakes of Turkey and at the shores of the Black Sea. Before 2013 they had been reported as Orchestiacavimana and later as Cryptorchestiacavimana. In our phylogenetic tree, inferred from a mitochondrial and nuclear gene dataset (cytochrome oxidase I (COI), and histone H3 (H3), respectively), we show that these Turkish populations belong to Cryptochestiagarbinii, a common and widespread continental species, which is closely related to C.cavimana (endemic to Cyprus) and C.ruffoi (endemic to Rhodes). For the Turkish and European populations of C.garbinii, we found low levels of both genetic differentiation and morphological variation, and an age-related size variability (increasing at each moult) of the small lobe in the male gnathopod I merus, the main taxonomically diagnostic character for Cryptorchestia. A mainland (C.garbinii) versus insular isolation and in situ speciation (C.cavimana, and C.ruffoi) in the two east Mediterranean islands of Cyprus and Rhodes is discussed in relation to terrestrial Cryptorchestia species endemic to North East Atlantic volcanic islands (Azores, Canary Islands, and Madeira). The incorporation of five Mediterranean and Atlantic Orchestia species in the Bayesian analysis of the two genes (COI, and H3) indicated that both genera Orchestia and Cryptorchestia are not monophyletic.

Unassisted quiet standing and walking after crutch usage in patients with total hip replacements: Does crutch length matter?

BACKGROUND: Crutch use is prescribed early in the rehabilitation process following total hip replacement (THR) surgery to improve safety and promote return to active living. RESEARCH QUESTION: Purpose of this study was to understand mid-term effects of crutch length setup on quiet standing and walking two months post-op when crutch use was no longer required. METHODS: Thirty patients were evaluated 2 months post-surgery when they had been walking without crutch for a month. The patients had previously been assigned randomly to elbow flexed (EF) or elbow extended (EE) crutch set-ups and evaluated 3 days post-surgery. Quiet standing stability was assessed with participants standing in a comfortable position with each foot on separated force platforms, facing forward for 10 s. In addition, participants walked on the laboratory path, instrumented with motion tracking system and force platforms. For the quiet standing trial, centre of pressure measure, acromial height and lower limbs load bearing symmetry were evaluated. For the walking trial, spatiotemporal and ground reaction force (GRF) parameters were evaluated together with side symmetry indices. RESULTS: Results showed no significant differences in any standing trial variables between groups. For walking, GRF parameters and symmetry indices were similar for both groups. However, increased base of support width, reduced self-selected walking speed and stride length were found for the EF group. SIGNIFICANCE: This study showed that crutch set-up influenced gait after patients started to walk unassisted. Patients that previously used crutch adjusted according to the EE setup, demonstrated a more efficient gait with higher self-selected speed and longer and narrower stride. Clinicians may use these results for a proper crutch height adjustment, which improves walking and, in turn, functional recovery in post THR patients.

Shoulder joint loadings in post total hip replacement surgery patients during assisted walking: The influence of the crutch setup.

A crutch is prescribed to permit the patient to walk safely and independently immediately after total hip replacement (THR) surgery. Purpose of this study is to evaluate the influence of the crutch setup on upper limbs biomechanics, including shoulder joint kinematics and kinetics parameters that will be evaluated to detect possible differences related to the crutch length. Thirty patients were randomly assigned to elbow flexed (EF) or elbow extended (EE) forearm crutch setup. Subjects were asked to walk on the laboratory path, instrumented with motion tracking system and force platforms. Spatiotemporal gait parameters, crutch ground reaction force (GRF) and crutch displacement (measured as the relative distance between the crutch position on the floor and the shoulder joint center), were evaluated. A three-dimensional (3D) biomechanical model was implemented to determine shoulder joint kinematics and kinetics during crutch walking. Results showed that the stride length significantly decreased, and base of support width increased for the EF group when compared to the EE group. Crutch forces and distance to the body significantly decreased in the EE group. Furthermore, shoulder joint moments in all planes of motion, vertical and lateral forces were significantly reduced in the EE group. The present study showed that crutch setup influenced performance and upper limb loading during walking, with EE setup allowing a more stable walking and reducing stress on the shoulder joint when compared to the EF setup. Results may help therapists in rationalizing crutch length adjustments for patients after THR surgery.

The influence of the crutch setup on stability and weight-bearing parameters in post total hip replacement surgery patients during quiet standing.

PURPOSE: The purpose of this study is to evaluate the influence of the crutch setup on standing, in post total hip replacement (THR) surgery patients. MATERIALS AND METHODS: Thirty patients after THR were randomly assigned to walking with the elbow flexed (EF) or elbow straight (ES) crutch setup. Subjects were asked to stand on a force platform in a comfortable position with the crutch positioned on the unaffected side, facing forward for 10 seconds. Centre of pressure total path and maximal excursion were evaluated in both medio-lateral and anterior-posterior planes. Difference in the asymmetry of left/right acromial height, measured with and without the crutch, was calculated (ACdiff). Percentage of body weight borne by the crutch (Fcr), symmetry (SIload) between operated and healthy limbs loading during the trial, together with shoulder forces and moments were measured. RESULTS: No significant differences between the two groups (p > .05) were found for stability parameters. ACdiff, Fcr and shoulder load increased significantly (p < .05) in EF group compared to ES group. In addition leg loading symmetry was significantly reduced in the EF group. CONCLUSIONS: The present study showed that the ES setup reduced the force borne by the crutch, the load on the shoulder joint and it minimized postural and loading asymmetries when compared to EF setup. Conversely, postural stability was not influenced by the crutch setup. Implications for Rehabilitation Static posture and weight-bearing parameters are influenced by crutch setup during quiet standing. Crutch setup does not influence postural stability. Adjusting the crutch according to the elbow straight setup reduces the force borne by the crutch and the asymmetry in lower limbs loading. Forces and moments at the shoulder joint were reduced for the elbow straight setup group.

Does crutch length influence gait parameters after total hip replacement surgery?

After total hip replacement surgery, crutches are often prescribed to enable patients to walk independently. Purpose of this study was to evaluate possible crutch length influence on gait performance and symmetry, including spatiotemporal and kinetics parameters. Thirty patients were randomly assigned to elbow flexed (EF) or elbow extended (EE) crutch setup. Subjects were asked to walk on the laboratory path, instrumented with motion tracking system and force platforms. Spatiotemporal gait parameters and ground reaction force (GRF) parameters for both limbs and crutch support were evaluated. In addition, limb symmetry was evaluated for both gait and force parameters using the symmetry index. Variability was quantified for base of support width, stride time and length as the coefficient of variation. Results showed that cadence and walking speed were not significantly different, but stride length significantly decreased and base of support width increased for the EF group when compared to the EE group. Operated limb GRF parameters were significantly decreased for the EF group, while crutch force parameters decreased for the EE group. Furthermore, the EF group showed greater stride length variability and asymmetry of force and spatiotemporal parameters than EE group did. The results of the present study showed that EF and EE setups did not assist patients equally during walking, with EE setup allowing more load bearing on the operated side, reducing load on the crutch and asymmetries in gait parameters when compared to the EF setup. This may help clinicians in rationalizing crutch setup for patients after total hip replacement surgery.

Cryptorchestia ruffoi sp. n. from the island of Rhodes (Greece), revealed by morphological and phylogenetic analysis (Crustacea, Amphipoda, Talitridae).

A new Cryptorchestia species, Cryptorchestia ruffoi Latella & Vonk, sp. n. from the island of Rhodes in south-eastern Greece, can be distinguished on the basis of morphological and phylogenetic data. Morphological analysis and DNA sequencing of mitochondrial and nuclear protein-coding genes indicated that this species is related to Cryptorchestia cavimana (Cyprus) and Cryptorchestia garbinii (Mediterranean regions, with a recent northward expansion). Results supported a genetic separation between the Cryptorchestia species of the east Mediterranean regions and those of the northeast Atlantic volcanic islands examined in this study (Cryptorchestia canariensis, Cryptorchestia gomeri, Cryptorchestia guancha, and Cryptorchestia stocki from the Canary islands, Cryptorchestia monticola from Madeira, and Cryptorchestia chevreuxi from the Azores). The Mediterranean and Atlantic Cryptorchestia species appear to be also morphologically distinct. Cryptorchestia ruffoisp. n., Cryptorchestia cavimana, Cryptorchestia garbinii, and Cryptorchestia kosswigi (Turkish coast) clearly have a small lobe on the male gnathopod 1 merus. This character was the main diagnostic difference between Cryptorchestia (sensu Lowry, 2013) and Orchestia. However, among the six northeast Atlantic island Cryptorchestia species only Cryptorchestia stocki has a small lobe on the merus of gnathopod 1. Reduction or loss of the lobe in the Atlantic Island species cannot be ruled out; however, molecular phylogenetic analysis leads us to presume that this lobe independently evolved between the east Mediterranean Cryptorchestia species and Cryptorchestia stocki from Gran Canaria.

Clinical outcome of design modifications to the CLS Spotorno Stem in total hip replacement.

PURPOSE: historically, the original CLS Spotorno Stem has demonstrated excellent survival. The design of this stem was recently modified, resulting in the introduction of a shorter, modular version (CLS Brevius). The purpose of the current study was to evaluate the functional, radiological and survivorship outcomes of the cementless CLS Brevius Stem in a multi-surgeon, single center, consecutive series study at two years post-surgery. METHODS: the Authors performed 170 total hip arthroplasties in 155 patients using the shorter, triple-taper stem design (CLS Brevius). The patients' diagnoses were primary hip osteoarthritis (OA) in 74.4%, secondary hip OA in 22.6%, and post-traumatic hip OA in 3%. All operations were performed through a mini-posterior approach, with the patient in the lateral decubitus position. The mean follow-up was 32 months (24-44 months). Outcome was assessed using the Harris Hip Score (HHS). RESULTS: the mean HHS improved from 32 preoperatively to 92 points at final follow-up, while the stem survival rate was 99.4%. Overall, the results were excellent in148 hips (87%), good in 14 hips (8.2%), fair in six hips (3.6%), and poor in two hips (1.2%). Intraoperative complications included a calcar fissure in three hips (1.7%). Correct femoral offset was reproduced in 97% while the planned center of hip rotation was achieved in 98%. Only one hip underwent early stem revision; this was due to major subsidence. CONCLUSIONS: the modified CLS stem design showed excellent short-term results with a low rate of early postoperative complications. One of the main findings of this study was the high correlation between the planned femoral offset and center of hip rotation and the final radiographic measurements. This high reproducibility, which indicates the ability of the system to restore normal hip anatomy, is indeed due to the extensive modularity that characterizes this stem system. Long-term follow-up studies are necessary to fully compare the outcomes of the new design with its highly successful predecessor. LEVEL OF EVIDENCE: Level IV, therapeutic cases series.

Primary posterior stabilized total knee arthroplasty: analysis of different instrumentation.

BACKGROUND: Intercondylar femoral bone removal during posterior stabilized (PS) total knee arthroplasty (TKA) makes many cruciate substituting implant designs less appealing than cruciate retaining implants. Bone stock conservation is considered fundamental in the prevision of future revision surgeries. The purpose of this study was to compare the quantity of intercondylar bone removable during PS housing preparation using three contemporary PS TKA instrumentations. METHOD: We compared different box cutting jigs which were utilized for the PS housing of three popular PS knee prostheses. The bone removal area from every PS box cutting jig was three-dimensionally measured. RESULTS: Independently from the implant size, the cutting jig for a specific PS TKA always resected significantly less bone than the others: this difference was statistically significant, especially for small- to medium-sized total knee femoral components. CONCLUSION: This study does not establish a clinical relevance of removing more or less bone at primary TKA, but suggests that if a PS design is indicated, it is preferable to select a model which possibly resects less distal femoral bone.

New data on Apteroloma (Coleoptera: Agyrtidae) of central Asia and the Himalayas with a new synonymy.

The distribution of Apteroloma anglorossicum (Semenov, 1890), A. harmandi (Portevin, 1903) and A. sillemi Jeannel, 1935 in central Asia and along the Himalayas is summarized, and the collecting circumstances and ecology of all three species from Gilgit District, Pakistan are described in detail. Revised diagnoses of all three species are provided, habitus and important morphological structures are illustrated, and available types have been examined. Apteroloma jankovskii Semenov and Znojko in Semenov, 1932 is confirmed as junior subjective synonym of A. anglorossicum. Apteroloma heinzi Schawaller, 1991 is newly treated as a junior subjective synonym of A. harmandi.

Italian natural history museums on the verge of collapse?

The Italian natural history museums are facing a critical situation, due to the progressive loss of scientific relevance, decreasing economic investments, and scarcity of personnel. This is extremely alarming, especially for ensuring the long-term preservation of the precious collections they host. Moreover, a commitment in fieldwork to increase scientific collections and concurrent taxonomic research are rarely considered priorities, while most of the activities are addressed to public events with political payoffs, such as exhibits, didactic meetings, expositions, and talks. This is possibly due to the absence of a national museum that would have better steered research activities and overall concepts for collection management. We here propose that Italian natural history museums collaborate to instate a "metamuseum", by establishing a reciprocal interaction network aimed at sharing budgetary and technical resources, which would assure better coordination of common long-term goals and scientific activities.

Periprosthetic joint infections: a clinical practice algorithm.

PURPOSE: periprosthetic joint infection (PJI) accounts for 25% of failed total knee arthroplasties (TKAs) and 15% of failed total hip arthroplasties (THAs). The purpose of the present study was to design a multidisciplinary diagnostic algorithm to detect a PJI as cause of a painful TKA or THA. METHODS: from April 2010 to October 2012, 111 patients with suspected PJI were evaluated. The study group comprised 75 females and 36 males with an average age of 71 years (range, 48 to 94 years). Eighty-four patients had a painful THA, while 27 reported a painful TKA. The stepwise diagnostic algorithm, applied in all the patients, included: measurement of serum C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) levels; imaging studies, including standard radiological examination, standard technetium-99m-methylene diphosphonate (MDP) bone scan (if positive, confirmation by LeukoScan was obtained); and joint aspiration with analysis of synovial fluid. RESULTS: following application of the stepwise diagnostic algorithm, 24 out of our 111 screened patients were classified as having a suspected PJI (21.7%). CRP and ESR levels were negative in 84 and positive in 17 cases; 93.7% of the patients had a positive technetium-labeled bone scan, and 23% a positive LeukoScan. Preoperative synovial fluid analysis was positive in 13.5%; analysis of synovial fluid obtained by preoperative aspiration showed a leucocyte count of > 3000 cells µ/l in 52% of the patients. CONCLUSIONS: the present study showed that the diagnosis of PJI requires the application of a multimodal diagnostic protocol in order to avoid complications related to surgical revision of a misdiagnosed "silent" PJI. LEVEL OF EVIDENCE: Level IV, therapeutic case series.

A multimodal approach in total hip arthroplasty preoperative templating.

OBJECTIVES: Accurate preoperative planning is mandatory for a successful total hip arthroplasty (THA). Templating helps to achieve multiple technical goals, including offset restoration, leg-length equality, and components positioning. This study aims to measure how successful a new stepwise method for preoperative radiographic templating is in achieving postoperative restoration of anatomy. METHODS: We measured the relationship of several radiographic landmarks on the affected limb in comparison to the unaffected limb to define the appropriate position of the components. One hundred consecutive patients with unilateral disease undergoing THA were retrospectively analyzed. The preoperative templates were compared with the postoperative radiographs. RESULTS: Accuracy in achieving the desired offset, leg-length discrepancy within 5 mm, was 93 % and 100 % respectively. Acetabular component positioning within 2° was replicated in 92 %. CONCLUSION: We conclude that this technique can help the surgeon to accurately reproduce the anatomy of the contralateral unaffected hip.

Two new species of the genus Anemadus Reitter, 1885, from the Near East (Coleoptera: Cholevidae).

Two new species of Anemadus from the Near East are described and illustrated. Anemadus lucarellii sp. nov., from South-Western Anatolia, belongs to the Anemadus pellitus species-group (sensu Giachino & Vailati, 1993) and Anemadus kadleci sp. nov., from North-Western Syria, belongs to the Anemadus strigosus species-group (sensu Giachino & Vailati, 1993). The description of these new species markedly increases the knowledge of the distribution of this genus in the Near East.

Candida glabrata prosthetic hip infection.

We present a case of a 60-year-old Caucasian woman carrying a 2-year-old hip prosthesis infected by Candida glabrata dose-dependent susceptible to fluconazole and voriconazole. Resection arthroplasty was performed. Six weeks of caspofungin plus liposomal amphotericin combination therapy achieved joint sterilization and allowed a successfully reimplantation arthroplasty. In addition we review 9 cases of C. glabrata prosthetic joint infection described to date in the literature.