'Non-Mendelian' genetics of fetal growth

International audienceMendelian genetics showed that a few mutated genes, or errors in parental imprinting, can lead to major phenotypic changes (diseases) in pre-natal growth. Mendelian genetics, however, do not explain the individual subtle variability of size at birth within the normal range. Fetal growth is a complex multifactorial, multigenic trait made of various sub-traits, such as body mass, fat and muscle, brain mass, head circumference, skeletal growth of the spine and limbs. It is likely that multiple genetic factors and genomic variants are responsible for the variations of these sub-traits. A study has been launched to investigate the genetics of the variation of human birth weight, with the ultimate aim of identifying genomic variations that are within or near certain genes and are associated with variations of human height and weight at birth

Arthroscopic Bristow-Latarjet Combined With Bankart Repair Restores Shoulder Stability in Patients With Glenoid Bone Loss

BACKGROUND: Arthroscopic Bankart repair alone cannot restore shoulder stability in patients with glenoid bone loss involving more than 20% of the glenoid surface. Coracoid transposition to prevent recurrent shoulder dislocation according to Bristow-Latarjet is an efficient but controversial procedure. QUESTIONS/PURPOSES: We determined whether an arthroscopic Bristow-Latarjet procedure with concomitant Bankart repair (1) restored shoulder stability in this selected subgroup of patients, (2) without decreasing mobility, and (3) allowed patients to return to sports at preinjury level. We also evaluated (4) bone block positioning, healing, and arthritis and (5) risk factors for nonunion and coracoid screw pullout. METHODS: Between July 2007 and August 2010, 79 patients with recurrent anterior instability and bone loss of more than 20% of the glenoid underwent arthroscopic Bristow-Latarjet-Bankart repair; nine patients (11%) were either lost before 2-year followup or had incomplete data, leaving 70 patients available at a mean of 35 months. Postoperative radiographs and CT scans were evaluated for bone block positioning, healing, and arthritis. Any postoperative dislocation or any subjective complaint of occasional to frequent subluxation was considered a failure. Physical examination included ROM in both shoulders to enable comparison and instability signs (apprehension and relocation tests). Rowe and Walch-Duplay scores were obtained at each review. Patients were asked whether they were able to return to sports at the same level and practice forced overhead sports. Potential risk factors for nonhealing were assessed. RESULTS: At latest followup, 69 of 70 (98%) patients had a stable shoulder, external rotation with arm at the side was 9° less than the nonoperated side, and 58 (83%) returned to sports at preinjury level. On latest radiographs, 64 (91%) had no osteoarthritis, and bone block positioning was accurate, with 63 (90%) being below the equator and 65 (93%) flush to the glenoid surface. The coracoid graft healed in 51 (73%), it failed to unite in 14 (20%), and graft osteolysis was seen in five (7%). Bone block nonunion/migration did not compromise shoulder stability but was associated with persistent apprehension and less return to sports. Use of screws that were too short or overangulated, smoking, and age higher than 35 years were risk factors for nonunion. CONCLUSIONS: The arthroscopic Bristow-Latarjet procedure combined with Bankart repair for anterior instability with severe glenoid bone loss restored shoulder stability, maintained ROM, allowed return to sports at preinjury level, and had a low likelihood of arthritis. Adequate healing of the transferred coracoid process to the glenoid neck is an important factor for avoiding persistent anterior apprehension. LEVEL OF EVIDENCE: Level IV, therapeutic study. See Instructions for Authors for a complete description of levels of evidence

Probing the growth window of LaVO₃ perovskites thin films elaborated using magnetron co-sputtering

LaVO3 is a promising material for tuning and improving solar cell performances when modifying the La/V stoichiometry. However, the production of LaVO3 thin films still requires a complex process (MBE, PLD), and the growth window of LaVO3 structure in terms of La/V ratio, already defined in the literature using hybrid-MBE is not determined for elaboration based on magnetron co-sputtering of both vanadium and lanthanum targets followed by an external reducing annealing that we use here. La/V ratio has been varied from 0.52 to 1.68 by changing the power applied to the vanadium target in order to synthesize films with different La/V ratios. The off-stoichiometry growth window has been investigated by complementary methods (XRD, XPS, FTIR and TEM). X-ray diffraction highlights the LaVO3 structure for all the films. For La-rich samples (La/V ratio andgt;1.2), the formation of lanthanum oxide La2O3 is observed at the top surface and interface with the substrate, according to XPS, FTIR and TEM investigations. On the other hand, for V-rich samples, only a slight modification of the structure is observed below the La/V ratio = 0.6; with the presence of a new IR vibration mode corresponding to a small contribution of vanadium oxide(s) present in volume. Our study allows a better definition of the LaVO3 growth window in terms of La/V ratio, estimated from 0.6 to 1.2. © 201

Anatomical total shoulder arthroplasty in young patients with osteoarthritis

AIMS: Controversy about the use of an anatomical total shoulder arthroplasty (aTSA) in young arthritic patients relates to which is the ideal form of fixation for the glenoid component: cemented or cementless. This study aimed to evaluate implant survival of aTSA when used in patients aged < 60 years with primary glenohumeral osteoarthritis (OA), and to compare the survival of cemented all-polyethylene and cementless metal-backed glenoid components. MATERIALS AND METHODS: A total of 69 consecutive aTSAs were performed in 67 patients aged < 60 years with primary glenohumeral OA. Their mean age at the time of surgery was 54 years (35 to 60). Of these aTSAs, 46 were undertaken using a cemented polyethylene component and 23 were undertaken using a cementless metal-backed component. The age, gender, preoperative function, mobility, premorbid glenoid erosion, and length of follow-up were comparable in the two groups. The patients were reviewed clinically and radiographically at a mean of 10.3 years (5 to 12, sd 26) postoperatively. Kaplan-Meier survivorship analysis was performed with revision as the endpoint. RESULTS: A total of 26 shoulders (38%) underwent revision surgery: ten (22%) in the polyethylene group and 16 (70%) in the metal-backed group (p < 0.0001). At 12 years' follow-up, the rate of implant survival was 74% (sd 0.09) for polyethylene components and 24% (sd 0.10) for metal-backed components (p < 0.0002). Glenoid loosening or failure was the indication for revision in the polyethylene group, whereas polyethylene wear with metal-on-metal contact, instability, and insufficiency of the rotator cuff were the indications for revision in the metal-backed group. Preoperative posterior subluxation of the humeral head with a biconcave/retroverted glenoid (Walch B2) had an adverse effect on the survival of a metal-backed component. CONCLUSION: The survival of a cemented polyethylene glenoid component is three times higher than that of a cementless metal-backed glenoid component ten years after aTSA in patients aged < 60 years with primary glenohumeral OA. Patients with a biconcave (B2) glenoid have the highest risk of failure

How the greater tuberosity affects clinical outcomes after reverse shoulder arthroplasty for proximal humeral fractures

BACKGROUND: Our purpose was to evaluate the clinical and radiologic outcomes of reverse shoulder arthroplasty for proximal humeral fractures in a large cohort of elderly patients and compare the results in the case of tuberosity excision, failed fixation, or anatomic healing. METHODS: In this retrospective multicenter study, 420 patients underwent review and radiography with a minimum follow-up period of 12 months. The patients were divided into 3 groups according to the status of the greater tuberosity (GT) on the last anteroposterior radiographs: anatomic GT healing (group A, n = 169); GT resorption, malunion, or nonunion (group B, n = 131); and GT excision (group C, n = 120). Complications were recorded; shoulder function, active mobility, and subjective results were assessed. RESULTS: At a mean follow-up of 28 months, the mean Simple Shoulder Value in group A (75%) outperformed the results found in groups B (69%, P < .001) and C (56%, P < .001). Overall, the mean adjusted Constant-Murley score was significantly higher in group A (93% ± 22%) than in group B (82% ± 22%) and group C (80% ± 24%) (P < .001), but there was no difference between groups B and C (P = .88). Anterior active elevation and external rotation were significantly better in group A than in groups B and C (P < .001). The instability rate was significantly higher in group C (n = 15 [12.5%], P < .001) than in group A (n = 2) or group B (n = 3). CONCLUSION: In elderly patients who have undergone a reverse shoulder arthroplasty for acute proximal humeral fractures, anatomic tuberosity healing improves objective and subjective outcomes. GT excision is associated with the worst functional results and increases the risk of postoperative shoulder instability

Clinical and MRI outcomes 10 years after repair of massive posterosuperior rotator cuff tears

BACKGROUND: Massive rotator cuff tears are challenging to treat, with few or no studies on long-term outcomes of repair. The purpose of this study was to report 10-year outcomes following repair of massive posterosuperior rotator cuff tears, with and without extension into the subscapularis, and to determine prognostic factors that could influence clinical scores and retear rates. METHODS: The records of 234 patients who underwent repair of a massive posterosuperior rotator cuff tear at a total of 15 centers were retrieved. Patients were asked to return for evaluation at 10 years; 78 patients could not be contacted, 7 had died, and 19 had undergone a reoperation. A total of 130 patients (68% men) with a mean age (and standard deviation) of 56.1 ± 7.7 years (range, 26 to 79 years) were evaluated clinically, and 102 of them were also evaluated using magnetic resonance imaging (MRI). The tear was confined to the supraspinatus and infraspinatus tendons in 94 shoulders and also involved the superior portion of the subscapularis in 36 shoulders. Univariable and multivariable regressions were performed to determine whether 10-year total Constant-Murley scores and repair integrity were associated with patient characteristics, tear patterns, or repair techniques. RESULTS: In the study cohort, complications were noted in 14 shoulders (11%) (stiffness in 10 and infection in 4). For the 130 shoulders evaluated clinically, the mean total Constant-Murley score improved from 53.1 ± 15.9 (range, 14 to 83) preoperatively to 78.5 ± 11.3 (range, 36 to 98) at 10 years. Of the 102 shoulders evaluated using MRI, 32 had a retear (Sugaya type IV or V). Of the 19 shoulders that underwent a reoperation (excluded from the study cohort), 9 had a retear. The overall prevalence of retears was 34%. Multivariable regression analysis revealed a significant association between the 10-year Constant-Murley score and preoperative retraction of the infraspinatus tendon, but no association between retears and any of the variables. Involvement of the subscapularis had no significant effect on preoperative or postoperative Constant-Murley scores or retear rates. CONCLUSIONS: Patients who had repair of a massive posterosuperior rotator cuff tear maintained considerable improvements in clinical and radiographic outcomes at 10 years. Partial concomitant tears of the subscapularis did not affect the total postoperative Constant-Murley scores or retear rates

Management of massive rotator cuff tears: prospective study in 218 patients

BACKGROUND: No consensus exists about the management of massive and symptomatic rotator cuff tears (RCTs). The objective of this study was to compare the 12-month clinical outcomes of various treatment options for massive RCTs. HYPOTHESIS: Arthroscopic surgery has a role to play in the treatment of massive and apparently irreparable RCTs. MATERIAL AND METHODS: A prospective multicentre non-randomised study was performed in patients with massive RCTs managed non-operatively (NONOP) or by arthroscopic tenotomy/tenodesis of the long head of biceps (aTLB), arthroscopic partial tendon repair (aPTR), arthroscopic latissimus dorsi transfer (aLDT), or reverse shoulder arthroplasty (RSA). Clinical outcomes were evaluated based on the Constant score, Subjective Shoulder Value (SSV), and American Shoulder and Elbow Surgeons (ASES) score after 3, 6, and 12 months. RESULTS: The 218 included patients (mean age, 69 years) were distributed as follows: NONOP, n=71; aTLB, n=26; aPTR, n=61; aLDT, n=25; and RSA, n=35. After 12 months, the mean Constant score, SSV, and ASES score values were 70, 68%, and 73, respectively, and had improved significantly versus the preoperative values in all treatment groups. RSA was the only treatment followed by improvements in all Constant score items. Active forwards elevation improved significantly in the NONOP (+25°), aPTR (+26°), and RSA (+66°) groups. An improvement in active external rotation was seen only in the RSA group, where it was small (+10°, p=0.046). Significant increases in internal rotation were seen in the NONOP (+1.6 points) and aPTR (+1.7 points) groups. CONCLUSION: Arthroscopic techniques (aTLB, aPTR, and aLDT) for managing massive irreparable RCTs produce significant functional gains. Partial tendon repair (aPTR) and RSA may provide better outcomes than isolated aTLB or aLDT

Smart sustainable cities of the new millennium : towards design for nature

Urban environments consist of a mosaic of natural fragments, planned and unintentional habitats hosting both introduced and spontaneous species. The latter group exploits abandoned and degraded urban niches which, in the case of plants, forms what is called the Third Landscape. In the Anthropocene, cities, open spaces and buildings must be planned and designed considering not only human needs but also those of other living organisms. The scientific approach of habitat sharing is defined as Reconciliation Ecology, whilst the action of implementing the ecosystem services and functioning of such anthropogenic habitats is called Urban Rehabilitation. However, urban development still represents the main cause of biodiversity loss worldwide. Yet, the approach of planners and landscape architects highly diverges from that of ecologists and scientists on how to perceive, define and design urban green and blue infrastructure. For instance, designers focus on the positive impact that Nature (generally associated with indoor and outdoor greeneries) has on human well-being, often neglecting ecosystems’ health. Instead, considering the negative impact of any form of development and to achieve the No Net Loss Aichi’s objectives, conservationists apply mitigation hierarchy policies to avoid or reduce the impact and to offset biodiversity. The rationale of this review paper is to set the fundamentals for a multidisciplinary design framework tackling the issue of biodiversity loss in the urban environment by design for Nature. The method focuses on the building/city/landscape scales and is enabled by emerging digital technologies, i.e. Geographic Information Systems, Building Information Modelling, ecological simulation and computational design

Lack of Renal 11 Beta-Hydroxysteroid Dehydrogenase Type 2 at Birth, a Targeted Temporal Window for Neonatal Glucocorticoid Action in Human and Mice

International audienceBackground Glucocorticoid hormones play a major role in fetal organ maturation. Yet, excessive glucocorticoid exposure in utero can result in a variety of detrimental effects, such as growth retardation and increased susceptibility to the development of hypertension. To protect the fetus, maternal glucocorticoids are metabolized into inactive compounds by placental 11beta-hydroxysteroid dehydrogenase type2 (11βHSD2). This enzyme is also expressed in the kidney, where it prevents illicit occupation of the mineralocorticoid receptor by glucocorticoids. We investigated the role of renal 11βHSD2 in the control of neonatal glucocorticoid metabolism in the human and mouse. Methods Cortisol (F) and cortisone (E) concentrations were measured in maternal plasma, umbilical cord blood and human newborn urine using HPLC. 11βHSD2 activity was indirectly assessed by comparing the F/E ratio between maternal and neonatal plasma (placental activity) and between plasma and urine in newborns (renal activity). Direct measurement of renal 11βHSD2 activity was subsequently evaluated in mice at various developmental stages. Renal 11βHSD2 mRNA and protein expression were analyzed by quantitative RT-PCR and immunohistochemistry during the perinatal period in both species. Results We demonstrate that, at variance with placental 11βHSD2 activity, renal 11βHSD2 activity is weak in newborn human and mouse and correlates with low renal mRNA levels and absence of detectable 11βHSD2 protein. Conclusions We provide evidence for a weak or absent expression of neonatal renal 11βHSD2 that is conserved among species. This temporal and tissue-specific 11βHSD2 expression could represent a physiological window for glucocorticoid action yet may constitute an important predictive factor for adverse outcomes of glucocorticoid excess through fetal programming