CORIN KneeTec DeepDishTM: Functional outcomes after a follow-up of 12 months and comparison with the STRYKER Triathlon PS.

Several competing concepts of anteroposterior stabilization have been developed for total knee arthroplasty (TKA), with an overall great success despite some differences in terms of clinical or radiological outcomes. The CORIN KneeTec DeepDish TM is a novel mobile-bearing implant, stabilized with an ultra-congruent deep-dish poly- ethylene insert. The aim of the present study was to report clinical and radiological outcomes of a series of patients who received the KneeTec DeepDish TM after a follow-up of 12 months, and to compare them to those of a comparable series of patients who received the STRYKER Triathlon ® posterior- stabilized. This was a retrospective comparative cohort study (level of evidence III). Demographic data, radiographic data and range of motion (ROM), as well the International Knee Society score and Oxford Knee Score were collected pre-operatively, and after a follow-up of 12 months. 106 KneeTec DeepDish TM and 80 Triathlon ® PS were evaluated at follow-up. Patients who received the KneeTec DeepDish TM had significant improvement in ROM, radiographic and clinical outcomes. There were no significant differences between the cohorts in terms of ROM, radiographic and clinical outcomes, as well as antero-posterior stability. This study is the first to report the 12-month outcomes of the CORIN KneeTec DeepDish TM. The novel KneeTec DeepDish TM achieved comparable ROM, radiographic and clinical outcomes to the Triathlon ® PS after 12 months. Further studies will be necessary to evaluate the mid- to long-term outcomes of the KneeTec DeepDish TM .

Articulated bipolar vs. non-articulated conventional spacers: A comparative study of results from two-stage treatment of chronic septic arthritis in prosthetic or native hips.

INTRODUCTION: Infection is a serious complication of 0.2-0.7% of primary total hip arthroplasties (THA) and 1-22% of prosthetic revisions. The objective of our study was to compare two types of spacers (unipolar versus bipolar) for two-stage revisions of periprosthetic hip infections. The primary hypothesis was that bipolar spacers have fewer mechanical complications than unipolar spacers. The secondary hypothesis was that bipolar spacers decrease the rate of septic revisions and promote primary prosthesis reimplantation. MATERIAL AND METHOD: This retrospective, monocentric, multi-operator study was carried out between January 2012 and July 2018, including patients operated on for septic arthritis of the native or prosthetic hip (two-stage procedure). The patients were divided into two groups: group A, including the articulated spacers and group B, including the unipolar spacers. We studied the complications of the spacers and the course of the infection over a minimum of two years. Functional status was assessed by the Postel Merle d'Aubigné (PMA) score, the Harris Hip Score (HHS) and pre- and postoperative patient satisfaction scores. RESULTS: We collected data for 39 hips from 37 patients (mean age 63, 22 men and 14 women: 16 patients in group A, 21 in group B). We found no mechanical complications in group A versus 12 (52%) in group B. At 2 years, 93.8% of patients in group A no longer had any signs indicative of an active infection, compared with 71.4% in group B. In group A, the median PMA score increased from 5.5 (4-10.5) to 13.5 (12.5-15.5) and the HHS score from 27.5 (17-41.5) to 79 (64.5-89.5), postoperatively. In the final group B, the PMA score increased from 7 (6-9) to 14 (12-16) and the HHS score from 24 (11-41) to 72 (48-82) postoperatively. CONCLUSION: The use of articulated spacers in THA or septic THA two-stage revision significantly reduces the occurrence of mechanical complications in the short term, as well as the pain between the two procedures. LEVEL OF PROOF: IV.

Experimental assessment of the effective friction at the base of granular chute flows on a smooth incline.

We report on direct measurements of the basal force components for granular material flowing down a smooth incline. We investigate granular flows for a large range of inclination angles from θ=13.4^{∘} to 83.6° and various gate openings of the chute. We find that the effective basal friction coefficient µ_{B}, obtained from the ratio of the longitudinal force to the normal one, exhibits a systematic increase with increasing slope angle and a significant weakening with increasing particle holdup H (the depth-integrated particle volume fraction). At low angles, the basal friction is slightly less than or equal to tanθ. The deviation from tanθ can be interpreted as a contribution from the sidewall to the overall friction. At larger angles, the basal friction µ_{B} saturates at an asymptotic value that is dependent on the gate opening of the chute. Importantly, our data confirm the outcomes of recent discrete numerical simulations. First, for steady and fully developed flows as well as for moderately accelerated ones, the variation of the basal friction can be captured through a unique dimensionless number, the Froude number Fr, defined as Fr=U[over ¯]/(gHcosθ)^{1/2}, where U[over ¯] is the mean flow velocity. Second, the mean velocity scales with the particle holdup H with a power exponent close to 1/4, contrasting with the Bagnold scaling (U[over ¯]∼H^{3/2}).

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Defects in optic fissure closure can lead to congenital ocular coloboma. This ocular malformation, often associated with microphthalmia, is described in various clinical forms with different inheritance patterns and genetic heterogeneity. In recent times, the identification of an increased number of genes involved in numerous cellular functions has led to a better understanding in optic fissure closure mechanisms. Nevertheless, most of these genes are also involved in wider eye growth defects such as micro-anophthalmia, questioning the mechanisms controlling both extension and severity of optic fissure closure defects. However, some genes, such as FZD5, have only been so far identified in isolated coloboma. Thus, to estimate the frequency of implication of different ocular genes, we screened a cohort of 50 patients affected by ocular coloboma by using targeted sequencing of 119 genes involved in ocular development. This analysis revealed seven heterozygous (likely) pathogenic variants in RARB, MAB21L2, RBP4, TFAP2A, and FZD5. Surprisingly, three out of the seven variants detected herein were novel disease-causing variants in FZD5 identified in three unrelated families with dominant inheritance. Although molecular diagnosis rate remains relatively low in patients with ocular coloboma (14% (7/50) in this work), these results, however, highlight the importance of genetic screening, especially of FZD5, in such patients. Indeed, in our series, FZD5 variants represent half of the genetic causes, constituting 6% (3/50) of the patients who benefited from a molecular diagnosis. Our findings support the involvement of FZD5 in ocular coloboma and provide clues for screening this gene during current diagnostic procedures.

Influence of femoral morphology and canal fill ratio on early radiological and clinical outcomes of uncemented total hip arthroplasty using a fully coated stem.

AIMS: The diversity of femoral morphology renders femoral component sizing in total hip arthroplasty (THA) challenging. We aimed to determine whether femoral morphology and femoral component filling influence early clinical and radiological outcomes following THA using fully hydroxyapatite (HA)-coated femoral components. METHODS: We retrospectively reviewed records of 183 primary uncemented THAs. Femoral morphology, including Dorr classification, canal bone ratio (CBR), canal flare index (CFI), and canal-calcar ratio (CCR), were calculated on preoperative radiographs. The canal fill ratio (CFR) was calculated at different levels relative to the lesser trochanter (LT) using immediate postoperative radiographs: P1, 2 cm above LT; P2, at LT; P3, 2 cm below LT; and D1, 7 cm below LT. At two years, radiological femoral component osseointegration was evaluated using the Engh score, and hip function using the Postel Merle d'Aubigné (PMA) and Oxford Hip Score (OHS). RESULTS: CFR was moderately correlated with CCR at P1 (r = 0.44; p < 0.001), P2 (r = 0.53; p < 0.001), and CFI at P1 (r = - 0.56; p < 0.001). Absence of spot welds (n = 3, 2%) was associated with lower CCR (p = 0.049), greater CFI (p = 0.017), and lower CFR at P3 (p = 0.015). Migration (n = 9, 7%) was associated with lower CFR at P2 (p = 0.028) and P3 (p = 0.007). Varus malalignment (n = 7, 5%), predominantly in Dorr A femurs (p = 0.028), was associated with lower CFR at all levels (p < 0.05). Absence of spot welds was associated with lower PMA gait (p = 0.012) and migration with worse OHS (p = 0.032). CONCLUSION: This study revealed that femurs with insufficient proximal filling tend to have less favourable radiological outcomes following uncemented THA using a fully HA-coated double-tapered femoral component.Cite this article: Bone Joint Res. 2020;9(4):182-191.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Microphthalmia, anophthalmia, and anterior segment dysgenesis are severe ocular developmental defects. There is a wide genetic heterogeneity leading to these ocular malformations. By using whole genome, exome and targeted sequencing in patients with ocular developmental anomalies, six biallelic pathogenic variants (including five novel variants) were identified in the PXDN gene in four families with microphthalmia and anterior segment dysgenesis. Only 11 different mutations (11 families) have been described in this gene to date. The phenotype of these patients is variable in severity, ranging from cataract and developmental glaucoma to complex microphthalmia. Interestingly, two unrelated patients of our series presented with an ocular phenotype including aniridia and microspherophakia. However, despite various phenotypic presentations and types of mutations, no genotype-phenotype correlation could be made. Thus, this work improves our knowledge of the recessive phenotype associated with biallelic variants in this gene and highlights the importance of screening PXDN in patients with anterior segment dysgenesis with or without microphthalmia.

[When everything is frozen, start moving again: the FIT@CHUV program]. / Quand tout est gelé, se remettre à bouger†: programme FIT@CHUV.

The adolescent's painful functional disorders deserve management by a specialized interdisciplinary team. In recent years, intensive interdisciplinary physical therapy (IIPT) programs have developed in a hospital environment in Europe and around the world. While the short-term objective is often to restore trust between the patient and the therapists by relieving parents of the need to coordinate a network of multidisciplinary practitioners. These programs have proven to be effective in the medium and long term in improving the patient's clinical performance and for the benefits associated with restoring normal life for the family. Finally, these programs can have a positive impact in a cost-benefit approach when considering these often long and complex care arrangements.

Les troubles fonctionnels douloureux chroniques de l'adolescent méritent une prise en charge interdisciplinaire spécialisée. Depuis quelques années, des programmes de thérapie physique intensive interdisciplinaire (intensive interdisciplinary physical therapy, IIPT) se sont développés dans un environnement hospitalier en Europe et dans le monde. Si l'objectif à court terme est souvent de remettre les patients en mouvement, un autre objectif est de restaurer une confiance entre le patient et les professionnels de la santé en soulageant notamment les parents de la coordination d'un réseau de praticiens multidisciplinaires. Ces programmes ont montré leur efficacité à moyen et long termes sur l'amélioration clinique du patient et sur les bénéfices associés à la reprise d'une vie normale pour la famille. Enfin, ces programmes peuvent avoir un impact positif en termes de coût/bénéfice dans ces prises en charge souvent longues et complexes.

Use of morselized allografts for acetabular reconstruction during THA revision: French multicenter study of 508 cases with 8 years' average follow-up.

BACKGROUND: In the context of acetabular reconstruction, bone defects can be filled with processed or unprocessed bone allografts. Published data are often contradictory on this topic and few studies have been done comparing processed allografts to fresh-frozen ones. This led us to conduct a large study to measure the factors impacting the survival of THA revision: (1) type of allograft and cup, (2) technical factors or patient-related factors. HYPOTHESIS: Acetabular reconstruction can be performed equally well with frozen or processed morselized allografts. MATERIALS AND METHODS: This retrospective, multicenter study of acetabular reconstruction included 508 cases with a minimum follow-up of 5 years. The follow-up for the frozen grafts was shorter (7.86 years±1.89 [5-12.32]) than that of the processed grafts (8.22 years±1.77 [5.05-15.48]) (p=0.029). However, the patients were younger at the time of the primary THA procedure in the frozen allograft group (51.5 years±14.2 [17-80]) than in the processed group (57.5 years±13.0 [12-94]) (p<0.001) and were also younger at the time of THA revision (67.8 years±12.2 [36.9-89.3] versus 70 years±11.7 [25-94.5]) (p=0.041). RESULTS: There were more complications overall in the frozen allograft group (46/242=19.0%) than the processed allograft group (35/256=13.2%) (p=0.044) with more instances of loosening in the frozen group (20/242 [8.2%]) than in the processed group (6/266 [3.3%])(p=0.001). Conversely, the dislocation rate (16/242=6.6% vs. 17/266=6.4%) (p=0.844) and infection rate (18/242=7.4% vs. 15/266=5.7%) (p=0.264) did not differ between groups. The subgroup analysis reveal a correlation between the occurrence of a complication and higher body mass index (BMI) (p=0.037) with a higher overall risk of complications in patients with a BMI above 30 or under 20 (p=0.006) and a relative risk of 1.95 (95% CI: 1.26-2.93). Being overweight was associated with a higher risk of dislocation (relative risk of 2.46; 95% CI: 1.23-4.70) (p=0.007). Loosening was more likely to occur in younger patients at the time of the procedure (relative risk of 2.77; 95% CI: 1.52-6.51) (p=0.040) before 60 years during the revision. Lastly, patients who were less active preoperatively based on the Devane scale had an increased risk of dislocation (relative risk of 2.51; 95% CI: 1.26-8.26) (p=0.022). DISCUSSION: Our hypothesis was not confirmed. The groups were not comparable initially, which may explain the differences found since the larger number of loosening cases in the frozen allograft group can be attributed to group heterogeneity. Nevertheless, morselized allografts appear to be suitable for acetabular bone defect reconstruction. A randomized study would be needed to determine whether frozen or processed allografts are superior. LEVEL OF EVIDENCE: III, comparative retrospective study.

Proximal humeral bony adaptations with a short uncemented stem for shoulder arthroplasty: a quantitative analysis.

BACKGROUND: Short uncemented stems have recently been proposed as an alternative to classic long stems for shoulder arthroplasty. The early results are promising, but bony adaptations of the proximal humerus have been reported. The aim of this study was to quantify these phenomena using the Ascend Flex stem and to determine the risk factors. MATERIALS AND METHODS: In a retrospective, single-center study, 183 shoulder arthroplasties were evaluated at 2-year follow-up. All patients underwent clinical evaluations preoperatively and at last follow-up. Radiographs were obtained preoperatively, postoperatively, and at last follow-up. Four types of bony adaptations were analyzed: medial cortical narrowing (MCN), medial metaphysis thinning (MMT), lateral metaphysis thinning (LMT), and under-the-baseplate osteolysis. The risk factors were analyzed in a multivariate model. RESULTS: MCN was found in 72.6% of cases and was severe (>50%) in 4.4%. MMT was found in 46.4% of cases and was severe in 3.3%. LMT was found in 9.8% of cases and was severe in 2.8%. The risk factors for MCN were the distal filling ratio, osteoporosis, and female sex, whereas MMT and LMT were only influenced by stem axis deviation. Under-the-baseplate osteolysis was found in 34.4% of cases. No influence of bony adaptations on the clinical outcomes was observed. We found no complications related to the stem or to stem loosening. CONCLUSION: The radiographic evolution was satisfactory at mid-term follow-up. Bony adaptations seemed to be limited phenomena, without any observed consequence. Avoiding excessive filling and axis deviation may limit these phenomena.

[Together we are stronger: management of complex functional disorders during adolescence]. / L'union fait la force :traitement des troubles fonctionnels complexes à l'adolescence.

Functional disorder during adolescence is a very complex problem too often limited to a psychological origin. Its pathogenesis remains unclear but it definitively associates individual and environmental factors. Recent data show anatomo-functional evidence of neural networks of the brain that is involved in pain and its psychological representation as well as the representation of pain in the body. We describe a holistic approach to manage functional disorders that include the family and promote adolescent centered care in order to reach a rapid and optimal rehabilitation.

Le trouble fonctionnel de l'adolescent est une pathologie complexe trop souvent réduite à un abord exclusivement psychologique. Sa genèse est encore insuffisamment comprise, mais elle associe certainement des facteurs individuels et environnementaux. Les données récentes montrent qu'il existe un support anatomo-fonctionnel au sein des réseaux neuronaux cérébraux impliqués dans la douleur et sa représentation psychique et corporelle. A l'instar des réseaux neuronaux, il s'agit souvent aussi d'une difficulté de travailler en réseau interdisciplinaire. Nous proposons ici une approche holistique de ces troubles, incluant les familles et plaçant l'adolescent au centre d'une prise en charge qui vise une réhabilitation rapide.

Global radiological score for femoral cementless revision stem.

PURPOSE: The purpose of this study was to evaluate the outcomes of total hip arthroplasty (THA) revision with cementless stems using a numeric global radiological score (GRxS) that summarizes two previously validated scores: secondary bone stock (SBS) and osseointegration-secondary stability (O-SS). METHOD: One hundred fifty cases of THA were evaluated at a mean follow-up of 6.5 ± 3.7 years. The GRxS combines the SBS, which evaluated cortical bone thickness, bone density and bone defects in each Gruen zone and the O-SS, which evaluated the location and extent of a single radiolucent line. To calculate the GRxS, the SBS and O-SS were each expressed on a 10-point scale and given equal weighing. The final result was a number out of 20. The GRxS was used to assign a radiological grade to each THA case: very good (20), good (18-15), average (13-12), or poor (≤ 10). The numerical mean (Nm) was calculated for each grade. The inter- and intra-observer reproducibility was evaluated. RESULTS: The inter-observer reproducibility was good (0.8) and the intra-observer reproducibility was very good (0.9). The GRxS was considered very good in 46 cases (Nm 20), good in 57 cases (Nm 16.6), average in 25 cases and poor in 22 cases. There was a significant relationship between the GRxS and the Harris Hip and Postel Merle d'Aubigné scores (p < 0.0001), and the initial bone stock (p = 0.0001). CONCLUSIONS: The GRxS is reliable and reproducible. This information can be used by surgeons to adapt the surgical technique to bone characteristics (especially during revision cases) and to compare the outcomes of different implant designs.

Relevance of Identifying JAG1 Mutations in Patients With Isolated Posterior Embryotoxon.

PURPOSE: Although posterior embryotoxon (PE) has a high incidence in the general population, clinicians should exclude any sign of glaucoma in its presence. This anatomic abnormality is often referred to as "isolated" when the intraocular pressure is normal. Nevertheless, it may be the only sign of Alagille syndrome (AS) that can be clinically heterogenous, as presented here. This possibility must be known, to look for involvement of other organs, and in case of suspicion, mutation of the JAG1 gene must be considered. METHODS: In this case series, we present the observation of a family with 3 individuals from 3 generations, in whom PE was a marker of AS. RESULTS: PE were observed in these 3 patients and considered as "isolated" as the intraocular pressure was normal. The 2 elder patients were also followed for atypical retinal dystrophy with speckling of the retinal pigment and optic disc drusen. AS syndrome was suspected when mild liver dysfunction was detected in the youngest girl. The detection of JAG1 mutation confirmed this diagnosis. CONCLUSIONS: As AS can be clinically heterogenous, it must be considered in case of isolated PE. Involvement of other organs must be looked for to search for mutation of the JAG1 gene in relevant cases.

Patient selection does not improve the success rate of infected TKA one stage exchange.

BACKGROUND: One stage exchange of a chronically infected total knee arthroplasty (TKA) is recommended in selected cases only. However, there is little evidence regarding the usefulness of selection criteria. The goal of this retrospective study was to compare the results of two concomitant cohorts of patients with chronically infected TKA: one treated with a routine one-stage exchange (study group) and one treated with one-stage exchange in selected cases only (control group). The hypoyhesis tested was that the failure rate and repeat surgery rate were higher in the study group than in the control group. METHODS: One hundred and thirty one cases were selected: 54 in the study group and 77 in the control group. There were 63 men and 68 women with a mean age of 70years. All patients were followed up for a minimal period of time of two years or until death or recurrence of infection. RESULTS: Twenty five cases had a recurrence of infection: 9/54 in the study group and 16/77 in the control group (NS). The survival rate for being free of infection after four years was 85% in the study group and 78% in the control group (NS). The repeat surgery rate was significantly higher in the control group. CONCLUSION: The tested hypothesis was rejected. When one stage exchange is considered, patient selection does not improve outcome.

Recurrent lacrimal gland choristoma of the ciliary body in an infant mimicking a medulloepithelioma.

PURPOSE: Choristoma is a congenital tumor made up of ectopic normal tissue. Different histopathologic subtypes have been described. Among them, lacrimal gland choristoma is found mainly in infants and can affect the iris, the ciliary body, or the choroid and epibulbar region. Our aims were to report a case of lacrimal gland choristoma, review the published cases, and present the main differential diagnoses. METHODS: A local resection of a limited mass of the ciliary body was performed on a 12-month-old girl who had a 6-month history of visual loss, leukocoria, and pupillary deformation. RESULTS: Histopathologically, we observed a well-demarcated lesion involved under the epithelium of the ciliary body. It was composed of acini delineated by a well-differentiated epithelium without atypia and mitotic figures. Immunohistochemical analyses confirmed the lacrimal nature with the expression of epithelial markers (cytokeratin 7 positive and cytokeratin 20 negative) and neuron-specific enolase without immunoreactivity for other neuronal markers. Two years later, a local recurrence appeared and was resected. It showed nearly the same histopathologic features. CONCLUSIONS: Lacrimal gland choristoma is a very rare lesion of the infant. Diagnosis is based on a histopathologic analysis with immunohistochemical studies to exclude other differential diagnoses such as a more common malignant tumor in childhood, medulloepithelioma. This observation shows an atypical clinical presentation of this benign lesion characterized by local recurrences.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there has been no significant association with PAX6 mutations in individuals with GS and the mode of inheritance of the disease had long been regarded as uncertain. Using a combination of trio-based whole-exome sequencing and Sanger sequencing in five simplex GS-affected families, we found homozygous or compound heterozygous truncating mutations (c.4672C>T [p.Gln1558(∗)], c.2182C>T [p.Arg728(∗)], c.6366+3A>T [p.Gly2102Valfs5(∗)], and c.6664+5G>T [p.Ala2221Valfs23(∗)]) and de novo heterozygous mutations (c.7687_7689del [p.Lys2563del] and c.7659T>G [p.Phe2553Leu]) in the inositol 1,4,5-trisphosphate receptor type 1 gene (ITPR1). ITPR1 encodes one of the three members of the IP3-receptors family that form Ca(2+) release channels localized predominantly in membranes of endoplasmic reticulum Ca(2+) stores. The truncation mutants, which encompass the IP3-binding domain and varying lengths of the modulatory domain, did not form functional channels when produced in a heterologous cell system. Furthermore, ITPR1 p.Lys2563del mutant did not form IP3-induced Ca(2+) channels but exerted a negative effect when co-produced with wild-type ITPR1 channel activity. In total, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic defects for Gillespie syndrome, further extending the spectrum of ITPR1-related diseases.

Assessment of fixation in cementless femoral revision of total hip arthroplasty: comparison of the Engh score versus radiolucent line measurement.

PURPOSE: To assess osseointegration and stability of a primary cementless femoral stem, many scoring systems have been developed, but none of them have taken into account only the radiolucent line. The purposes of this study were (1) to compare the results between the Engh score to assess osseointegration and stability of the cementless stem with results of a score called the O-SS score (osseointegration-secondary stability), which takes into account the radiolucent line, (2) to verify the relationship between these two scores and the functional results, and (3) to verify if there is a relationship between the O-SS score and secondary subsidence or a pedestal. METHODS: A clinical and radiological evaluation was performed in a group of 100 hip prosthesis revisions comparing the results obtained by Engh score and O-SS score for which reproducibility was analysed. RESULTS: Inter-observer reproducibility was estimated to be average at 0.5 and intra-observer reproducibility good at 0.7. The correlation with the Engh score was good at r = 0.59 (p < 0.0001). For the 80 cases assessed O-SS score as very good/good, Harris hip score was at 83.7 versus 78.25 for the 20 cases assessed as average/poor (p = 0.07). For the 73 cases with assessed Engh score as very good/good, this score was at 82.8 versus 82.14 for the 27 cases assessed as average/poor. No correlation between the O-SS score and secondary subsidence (p = 0.2) or pedestal (p = 0.2) was noticed. CONCLUSION: The evaluation of the clear radiolucent line alone, extent and location, is a sufficient condition to assess osseointegration and secondary stability of a cementless femoral stem.

Surgical management of the infected reversed shoulder arthroplasty: a French multicenter study of reoperation in 32 patients.

BACKGROUND: In a retrospective multicenter study, we evaluated the efficiency and outcomes of the different therapeutic options for infection after reversed shoulder arthroplasty. METHODS: Thirty-two patients were reoperated on for infection after reversed shoulder arthroplasty between 1996 and 2011. The mean age was 71 (55-83) years. The involved implants were primary prostheses in 23 cases and revision prostheses in 9 cases. The average preoperative Constant score was 34 (11-69). Six of these patients needed 2 successive procedures. A total of 38 procedures were performed: débridement (13), 1-stage (5) or 2-stage revision (14), or implant removal (6). At last follow-up (mean, 36 months; range, 12-137 months), every patient had clinical, biologic, and radiographic evaluation. RESULTS: Infections were largely caused by coagulase-negative staphylococci (56%) and Propionibacterium acnes (59%). The complication rate was 26%. At last follow-up, 26 patients were free of infection (81%). The final Constant score was 46 (12-75). After débridement with implant retention, the mean Constant score was 51 (29-75), but the healing rate was only 54%. Implant revision (1 or 2 stage) led to better functional results than implant removal (46 vs. 25; P = .001), with similar healing rates (73% and 67%, respectively). Patients with low initial impairment (Constant score > 30) were not significantly improved by surgical treatment. CONCLUSION: Débridement is the less aggressive option but exposes patients to healing failure. It should be proposed as a first treatment attempt. Revision of the implant is technically challenging but preserves shoulder function, with no higher rate of residual infection compared with implant removal.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwide. By using whole-genome oligonucleotide array CGH, we have identified deletions at 13q32.1 segregating with MCOR in six families originating from France, Japan, and Mexico. Breakpoint sequence analyses showed nonrecurrent deletions in 5/6 families. The deletions varied from 35 kbp to 80 kbp in size, but invariably encompassed or interrupted only two genes: TGDS encoding the TDP-glucose 4,6-dehydratase and GPR180 encoding the G protein-coupled receptor 180, also known as intimal thickness-related receptor (ITR). Unlike TGDS which has no known function in muscle cells, GPR180 is involved in the regulation of smooth muscle cell growth. The identification of a null GPR180 mutation segregating over two generations with iridocorneal angle dysgenesis, which can be regarded as a MCOR endophenotype, is consistent with the view that deletions of this gene, with or without the loss of elements regulating the expression of neighboring genes, are the cause of MCOR.

Bone stock in revision femoral arthroplasty: a new evaluation.

PURPOSE: The purpose of this study was to finalize a method allowing a qualitative and numerical evaluation of the bone stock and to confirm its reproducibility, to verify the relationship between the secondary bone stock value and the functional results, and to determine the main factors influencing the value of the bone stock. METHODS: A clinical and radiological evaluation was performed in a group of 150 revisions of total hip replacements according to a new method taking into account cortical bone thickness, bone density and bone defects. RESULTS: Interobserver reproducibility was evaluated at an average of 0.6 and intra-observer reproducibility was considered good at 0.8. Between the initial bone stock and at the last follow-up, no significant difference was noticed. For secondary bone stock considered as "very good or good", the gain was +38.1 points versus +29.9 points for patients evaluated as "average or poor" (p < 0.0001). Between the initial bone stock assessment and at last follow-up, a significant relation was found in numerical values for the global type of primary fixation and in the presence of osteopenia (p < 0.0001). CONCLUSIONS: Deficient secondary bone stock can result in less favourable functional results. The numerical scores confirm the importance of strategic choices during surgery in order to manage bone stock preservation.

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.

BACKGROUND: Pseudoxanthoma elasticum is an inherited disorder of connective tissue characterized, among other symptoms, by impaired vision. OBJECTIVE: To evaluate the nature and age of onset of ophthalmologic manifestations in pseudoxanthoma elasticum. PATIENTS AND METHODS: Forty consecutive patients affected with pseudoxanthoma elasticum underwent measurements of their refractive error and visual acuity, together with slit-lamp examination. RESULTS: The mean age of the patients (8 M, 32 F) was 43.35 years. Fifty-seven eyes (33 patients, mean age: 40.75 years) had a BCVA >20/50 whereas 23 eyes in 16 patients (mean age: 53.31 years) had ≤20/50. Seven patients (17.50%), all but one over 52 years old, were visually disabled. BCVA ≤20/50 in at least one eye was observed in 73.33% of patients of 52 years old or older and in 20.00% of patients younger than 52, respectively. Angioid streaks were observed in 75 eyes (93.75%) and extended toward the macula in 51 eyes from 29 patients. Macular involvement was observed for the first time at a mean age of 44.28 years. Neovascularization was observed in 28 eyes (17 patients; mean age: 51.70 years), all with poor BCVA. CONCLUSION: Macular choroidal neovascularization is frequent in pseudoxanthoma elasticum, and accounts for the poor ophthalmologic natural history of the disease. Patients should be advised to self-monitor their visual acuity using the Amsler grid. The frequency of choroidal neovascularization appears age-dependent, suggesting that bi-yearly fundus examination is appropriate in young patients whereas patients older than 40 should be examined twice a year.