Fully Automated Measurement of the Insall-Salvati Ratio with Artificial Intelligence.

Patella alta (PA) and patella baja (PB) affect 1-2% of the world population, but are often underreported, leading to potential complications like osteoarthritis. The Insall-Salvati ratio (ISR) is commonly used to diagnose patellar height abnormalities. Artificial intelligence (AI) keypoint models show promising accuracy in measuring and detecting these abnormalities.An AI keypoint model is developed and validated to study the Insall-Salvati ratio on a random population sample of lateral knee radiographs. A keypoint model was trained and internally validated with 689 lateral knee radiographs from five sites in a multi-hospital urban healthcare system after IRB approval. A total of 116 lateral knee radiographs from a sixth site were used for external validation. Distance error (mm), Pearson correlation, and Bland-Altman plots were used to evaluate model performance. On a random sample of 2647 different lateral knee radiographs, mean and standard deviation were used to calculate the normal distribution of ISR. A keypoint detection model had mean distance error of 2.57 ± 2.44 mm on internal validation data and 2.73 ± 2.86 mm on external validation data. Pearson correlation between labeled and predicted Insall-Salvati ratios was 0.82 [95% CI 0.76-0.86] on internal validation and 0.75 [0.66-0.82] on external validation. For the population sample of 2647 patients, there was mean ISR of 1.11 ± 0.21. Patellar height abnormalities were underreported in radiology reports from the population sample. AI keypoint models consistently measure ISR on knee radiographs. Future models can enable radiologists to study musculoskeletal measurements on larger population samples and enhance our understanding of normal and abnormal ranges.

Extensive elemental mapping unlocks Mg/Ca ratios as climate proxy in seasonal records of Mediterranean limpets.

Elemental analysis of biogeochemical archives is an established technique used to study climate in a range of applications, including ocean circulation, glacial/interglacial climates, and anthropogenic climate change. Data from mollusc archives are especially important because of their global abundance and sub-annual resolution. Despite this potential, they are underrepresented among palaeoclimate studies, due to enigmatic physiological influences skewing the elemental record. Understanding the patterns behind these influences will improve data interpretation and lead to the development of new climate proxies. Here, we show for the first time that extensive spatial mapping of multiple mollusc specimens using Laser Induced Breakdown Spectroscopy (LIBS) across a wider region can resolve enigmatic patterns within the elemental record caused by physiological influences. 2D elemental (Mg/Ca) maps of whole limpet shells (Patella caerulea) from across the Mediterranean revealed patterns of variability within individual mollusc records as well as within isochronous parts of specimens. By registering and quantifying these patterns, we established previously uninterpretable correlations with temperature (R2 > 0.8, p < 0.01). This outcome redefines the possibilities of accessing sub-annual climate proxies and presents the means to assess annual temperature ranges using oxygen isotope analysis requiring only 2 samples per shell.

[Classification of vitreomacular adhesion and macular holes]. / Classification des adhérences vitréomaculaires et trous maculaires.

BACKGROUND: Optical coherence tomography has significantly changed the approach to vitreomacular diseases, including macular holes (MH). OCT provides information on differential diagnoses (lamellar hole, pseudo-hole), the MH size, the status of the vitreous, and the status of the various retinal layers. The evolution of diagnostic tools and treatment justifies the need for an update of the current classification of vitreomacular diseases. METHOD: A group of retina specialists met several times to discuss the international classification, recently published by The International Vitreomacular Traction Study Group, focusing on vitreomacular adhesion (VMA), vitreomacular traction (VMT) and MH. It was compared to the classification currently used in France, based on the ophthalmoscopic system of Gass, then further delineated by Gaudric's OCT studies, in order to suggest a French adaptation to the international classification. RESULTS: An adapted classification for clinical use in France and in connection with the international classification is proposed. VMA are classified as an "associated" or "isolated" VMA respectively with or without macular disease. MH are distinguished as "primary" or "secondary" MH depending on whether the etiology is known or not, and classified as "small", "medium" and "large" depending on the size of the hole, and according to the presence or absence of VMT. Finally, VMT are described according to presence or absence of an epimacular membrane and according to the width of the adhesion.

Transcription linked to recombination: a gene-internal promoter coincides with the recombination hot spot II of the human MLL gene.

The MLL gene is frequently involved in chromosomal translocations associated with high-risk acute leukaemia. Infant and therapy-related acute leukaemia patients display chromosomal breakpoints preferentially clustered in the telomeric portion of the MLL breakpoint cluster region (SCII). Here, we demonstrate that SCII colocalizes with a gene-internal promoter element in the mouse and human MLL gene, respectively. The mRNA generated encodes an N-terminally truncated version of MLL that still exhibits many functional regions, including the C-terminal SET-domain. Etoposide-induced DNA double-strand breaks colocalize with the binding site of RNA polymerase II and the transcription initiation region, but not with a nearby Topo II consensus sequence. Thus, the observed genomic instability of the human MLL gene is presumably linked to transcriptional processes. The consequences of this novel finding for the creation of chromosomal translocations, the biology of the MLL protein and for MLL-mediated acute leukaemia are discussed.

[Causes and prevention of intraocular foreign bodies]. / Etiologies et prévention des corps etrangers intra-oculaires.

The most frequent cause of intraocular foreign bodies involves a small piece of metal penetrating the eye following a metal-on-metal impact occurring at work. Other metallic foreign bodies resulting from aggression with firearms have become less frequent due to changes in the law. More rarely, intra-ocular foreign bodies may come from explosives have a telluric origin, or else be made of glass. Treatment is primarily preventive. Eye accidents caused by foreign bodies at work are common. European-level standards therefore impose individual protective equipment adapted to user needs. These measures should be adopted not only in companies but also for handiwork at home.

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.

[Neovascular glaucoma diagnosed following carotid endarterectomy]. / Glaucome néovasculaire diagnostiqué après endartériectomie carotidienne.

We report a case of bilateral asymptomatic rebeosis iridis related to a bilateral obstruction of the carotid arteries. The iridocorneal angles were closed by a neovascular membrane and intraocular pressures were normal within both eyes (normotensive neovascular glaucoma). After left carotid endarterectomy, the increased perfusion of the ciliary body and the increased secretion of aqueous humor resulted in a sudden bilateral ocular hypertension. Management of ocular neovascularization related to carotid artery obstruction may involve the destruction of areas of retinal ishchemia (laser panretinal photocoagulation or cryotherapy) before carotid surgery.

Posterior chamber intraocular lens dislocation with the bag.

We report a rare case of a 46-year-old man presenting with a luxation of a posterior chamber intraocular lens (IOL) with the capsular bag after ocular contusion. Preoperative axial length was 36.58 mm. After trauma, pars plana extraction of the dislocated IOL inside the capsular bag was performed using a forceps. Capsular fibrosis had probably weakened the zonules, which were ruptured by the trauma. This observation confirms the necessity of a large continuous curvilinear capsulotomy and meticulous cleaning of the anterior and posterior capsules to minimize postsurgical fibrosis and capsule contraction.

Intraocular foreign bodies. Factors influencing final visual outcome.

PURPOSE: To identify the prognostic factors of poor visual outcome (visual acuity < or =6/240) in eyes with intraocular foreign bodies. METHODS: The records of 95 consecutive patients were retrospectively reviewed for 6 years (1990-1995). All eyes underwent a primary surgical repair and foreign-body removal (electromagnet or vitrectomy). The mean follow-up period was 25 months (6-72 months). Single analysis and multiple logistic stepwise regression analysis were performed to determine predictors of poor vision. RESULTS: Thirty patients (31.6%) showed 6/240 or worse vision at the end of their follow-up period. Three significant predictive factors had independent and combined effects on post-operative visual outcome: a corneo-scleral entry wound (odds ratio (OR)=14.5, p=0.001), largest diameter of IOFB (OR=1.21, p=0.01) and the presence of secondary retinal detachment (OR=9.48, p=0.0002). Post-operative complications included traumatic cataracts (51%), retinal detachments (28%) and phthisis bulbi (8%). CONCLUSION: Using multivariate analysis, corneo-scleral entry wound, largest diameter of foreign body and secondary retinal detachment were found to be predictors of poor visual outcome after intraocular foreign body removal. Our results suggest that patients with high-risk intraocular foreign body trauma should be candidates for pars plana vitrectomy rather than electromagnet procedure.

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.

BACKGROUND: It has been previously described that Wagner disease is linked to chromosome 5q13-q14. This study was carried out to describe the ophthalmological aspects and report the results of genetic linkage analysis in a large pedigree affected by Wagner disease. METHODS: Fourty members of one same family agreed to be examined. RESULTS: Twenty patients presented vitreoretinal degeneration in both eyes without any extra-ocular abnormalities. In young patients, visual acuity was usually normal after correction of frequent mild myopia. Presenile cataracts progressed by the third decade and required removal for visual rehabilitation. The primary disorder involved an abnormal vitreous. A few avascular vitreous bands were usually the only optical feature in the mostly empty vitreous cavity. A circumferential vitreous condensation formed in contact with the retina on many spots. Less common retinal findings included retinal detachment, abnormal retinal pigmentation, progressive atrophy of the RPE simulating choroideremia and lattice degeneration. Genetic analysis revealed a highly significant linkage (lod score >5.0) between the disease and 10 markers of the chromosome 5q13-q14 region. Two recombination events allowed us to refine the linked interval to 20 cM between the D5S650 and D5S618 markers. CONCLUSION: Ophthalmological aspects of Wagner's disease appear to progress with age. Regular ophthalmological examination is important for detecting retinal abnormalities. The gene involved in Wagner's disease lies in a 20 cM interval on chromosome 5q13-q14.

[Nummular keratopathy in Crohn's disease. Apropos of a case]. / Kératopathie nummulaire au cours d'une maladie de Crohn. A propos d'un cas.

We report an unusual case of nummular keratopathy of the left eye in a 58-year-old woman with active Crohn's disease, presenting colo-anal and joint symptoms. Spontaneously decreased bowel activity and local steroid treatment provided symptom relief and incomplete decrease in volume of subepithelial elevations. We discuss the clinical aspects, the epidemiologic factors, the pathogenic mechanisms and the treatment of keratopathy in Crohn's disease.

Effect of cytokines and nitric oxide on tight junctions in cultured rat retinal pigment epithelium.

PURPOSE: These experiments were designed to study the effect of cytokines and nitric oxide (NO) on rat retinal pigment epithelial (RPE) cell tight junctions in vitro. METHODS: Cultures of confluent RPE cells from retinas of PVG rats (a strain susceptible to development of experimental uveitis) were prepared on filters and incubated with various stimulants. The function of the tight junction was evaluated by measuring the transepithelial electrical resistance (TER) of the cell monolayer and the passive permeation of [3H]inulin across confluent RPE cells. The morphology of the intercellular junctions was visualized by immunolocalization of the tight junction-associated protein zonula occludens-1 (ZO-1) and F-actin. RESULTS: Seventy-two hours after plating, the RPE cell monolayer showed a mean TER level of 67.6+/-18.8 omega/cm2. A decrease in TER was observed after treatment with interferon-gamma (IFN-gamma) and lipopolysaccharide (LPS). The addition of tumor necrosis factor-alpha (TNF-alpha) accelerated the decrease of TER, whereas NG-monomethyl-L-arginine (L-NMMA) (an NO synthase [NOS] inhibitor) did not further modify the resistance decrease. In contrast, 3-morpholino-sydnonimine (SIN-1), a sydnonimine analog and NO donor, increased the TER. The variations of TER were correlated with the transepithelial fluxes of [3H]inulin and with tight junction morphologic changes of ZO-1 and F-actin immunostaining. CONCLUSIONS: Incubation with LPS associated with IFN-gamma and TNF-alpha induces alterations of RPE tight junctions, whereas NO is involved in the maintenance of their integrity. Cytokines and NO production could play a role in regulation of the blood-ocular barrier function and of the development of ocular inflammation.

Effect of macrophage depletion by liposomes containing dichloromethylene-diphosphonate on endotoxin-induced uveitis.

Footpad injection of lipopolysaccharide (LPS) from Salmonella typhimurium in Lewis rats induces an acute anterior and posterior endotoxin-induced uveitis (EIU). To investigate the role of macrophages in the pathogenesis of EIU, we eliminated macrophages by means of liposomes containing dichloromethylene-diphosphonate (Cl2MDP), a drug which depletes macrophages but not other immunocompetent cells. Intravenous injection of CL2MDP-liposomes clearly inhibited clinical and histological manifestations of uveitis in the anterior segment of the eye (iris/ciliary body) and reduced TNF level in aqueous humor. Specific immunostaining showed that CL2MDP-liposome injections decreased the number of ED2 + resident macrophages in the iris/ciliary body and the choroid. After LPS injection, CL2MDP-liposome treatment reduced the density of infiltrating ED1 + cells (mainly monocytes/macrophages) in the iris/ciliary body but not in the choroid; little or no effect was detected on the OX42 + cellular infiltration (mainly polymorphonuclear leukocytes). The inflammatory cellular infiltration of the retina was not modified by the treatment. These findings suggest that macrophages play a key role in the pathogenesis of ocular inflammation.

Visual outcome and prognostic factors after magnetic extraction of posterior segment foreign bodies in 40 cases.

AIMS: To evaluate the clinical features as well as the visual and anatomical outcome in eyes with magnetic posterior segment foreign bodies, to identify prognostic factors after removal using an electromagnet. METHODS: The records of 40 patients with posterior segment foreign bodies were retrospectively reviewed for 6 years (1989-94). Post-traumatic cataracts and secondary retinal detachments were treated using conventional surgical techniques. Pars plana vitrectomy was used only for late complications. The mean follow up was 30 months (6-71). Clinical factors were studied using univariate analysis. RESULTS: The most common findings before treatment of these 40 eyes were lens wound, hyphaema, vitreous haemorrhage, and retinal impairment. The foreign body was in the vitreous (85%) or minimally embedded in the retina (15%). Initial visual acuity was worse or equal to 20/40 in 70% of the cases. Subsequent to surgical treatment, a cataract was reported in 60% of the patients. Postoperative complications included retinal detachment (15%) and phthysis (5%). The prognosis was worse in cases with intraocular foreign body of largest diameter > or = 3 mm, an initial visual acuity less than 20/200, or the presence of post-traumatic retinal detachment. Presence of initial intravitreous haemorrhage, hyphaema, or intraocular tissue prolapse did not appear to affect the prognosis. CONCLUSION: The long term visual acuity results indicated that wound repair associated with conventional magnet extraction in an emergency is a viable treatment for posterior segment magnetic foreign bodies in this selected group. At the time of diagnosis, size of foreign body (< 3 mm) and initial visual acuity > or = 20/200 were predictors of good visual outcome after primary magnetic extraction.

[Vitrectomy and proliferative diabetic retinopathy. Apropos of 66 eyes]. / Vitrectomie et rétinopathie diabétique proliférante. A propos de 66 yeux.

PURPOSE: We report a retrospective study about vitrectomy in diabetic patients and the analysis of anatomical and functional results after surgery. METHODS: We studied 66 eyes of 52 diabetic patients who underwent pars plana vitrectomy. Vitrectomy was performed for nonclearing intravitreous hemorrhage in 75% of eyes and for tractional macular retinal detachment in 14% of eyes. RESULTS: After vitrectomy for intravitreous hemorrhage, visual acuity increased in 84% of eyes with more than 5/10 in half the cases. After vitrectomy for tractional retinal detachment, visual acuity increased or became stable in only 55% of eyes. The major complication of surgery was recurrence of intravitreous hemorrhage. A new surgery was not necessary in most cases. Neovascular glaucoma, phtysis, retinal detachment and cataract were the other complications of surgery. CONCLUSION: Visual prognosis after vitrectomy performed in complicated diabetic retinopathy depends on the final macular function. Surgery for intravitreous hemorrhage without macular detachment produced in most of cases a good visual acuity. On the other hand, vitrectomy for tractional macular retinal detachment was followed by poor visual prognosis. After recurrent intravitreous hemorrhage, a new surgical procedure is possible with good visual results in most cases, even if several procedures are necessary.

Colonic bacterial activity determines the symptoms in people with fructose-malabsorption.

BACKGROUND/AIM: This study was performed to find a parameter to discriminate symptomatic from asymptomatic subjects with fructose-malabsorption. PATIENTS AND METHODS: Thirty-four subjects (12 m, 22 f; average age, 28.6 years; range 16-60) were investigated after an overnight fast. After intake of 25 g fructose, H2-tests were carried out. Endexspiratory breath samples were taken before the ingestion of the tested sugar and at 30 minute intervals over a 2 hour period. Hydrogen determination was performed immediately after sampling. Results were considered pathological if there was a rise in hydrogen over 20 ppm and a twofold increase from the initial value. Aerobic and anaerobic cultures from stool bacteria were set and incubated with 0.5 g fructose. RESULTS: Among 34 healthy controls, 13 malabsorbers (38%) were detected. Out of these malabsorbers, 6 (46%) reported gastrointestinal concomitant symptoms. Symptomatic and asymptomatic subjects with fructose-malabsorption showed a comparable increase in hydrogen levels. The disappearance rate of fructose in the stool cultures was significantly elevated in the symptomatic group compared with the asymptomatic, but only in the anaerobic culture. CONCLUSION: This activity of colonic bacteria, significantly discriminating symptomatic subjects with fructose-malabsorption from asymptomatic, enhances the importance of fructose-malabsorption in the differential diagnosis of people with non-specific abdominal complaints. Antibiotic therapy in severe cases should be considered a therapeutical approach. Moreover these results may support the role of nutritional carbohydrates in the pathogenesis of colonic diseases.

[Carbohydrate substitutes: comparative study of intestinal absorption of fructose, sorbitol and xylitol]. / Zuckeraustauschstoffe: Vergleichende Untersuchung zur intestinalen Resorption von Fructose, Sorbit und Xylit.

BACKGROUND: The carbohydrate substitutes fructose, sorbitol and xylitol are gaining more and more importance in the production of dietary food. But they can provoke gastrointestinal side-effects. In a randomized double blind study the rate of malabsorption of these sugars was compared and the concomitant symptoms were recorded. SUBJECTS AND METHODS: 25 healthy controls received 25 g of each sugar within 3 consecutive days. The intestinal absorption was determined by H2-exhalation tests and the clinical symptoms were recorded. RESULTS: The rate of malabsorption was 84% for sorbitol, 36% for fructose and 12% for xylitol (p < 0.01 for sorbitol versus fructose and xylitol). 57% of the participants with pathological H2-test after sorbitol and 56% after fructose reported symptoms, while all of the 3 malabsorbers of xylitol were symptomatic. CONCLUSIONS: There is an advantage to administering xylitol and fructose with regard to the intestinal absorption and concomitant symptoms as compared with sorbitol. H2-exhalation tests appear to be a reliable diagnostic tool to detect carbohydrate malabsorption and should find broader application in patients suffering from non-specific abdominal complaints.