The purpose was to describe cervical sagittal alignment in adolescent idiopathic scoliosis (AIS) compared to a normal group of adolescents and young adults, seeking for differences by Lenke type. Radiographs of 1779 AIS patients and 1115 controls were analyzed. Lenke types were determined. Spinopelvic parameters, thoracic kyphosis (TK), lumbar lordosis and sagittal vertical axis (SVA) CAM, C2, and C7 were measured. Cervical parameters included McGregor slope, C1–C2 and McGregor–C2 lordosis, C2–C7 lordosis (subdivided into cranial and caudal arches), C7 and T1 slopes. Cervical alignment patterns were classified as lordotic, kyphotic or sigmoid shapes. Lenke 1, 2, 3 and 6 curves showed decreased C2–C7 and caudal arch lordosis associated with decreased C7 and T1 slopes and TK (p < 0.001) compared to normal. Cranial cervical parameters were comparable to the normal group. Lenke 5 patients demonstrated TK, C7 and T1 slopes, and cervical alignment parameters close to the normal group. In AIS, TK correlated with caudal cervical (r = 0.76) and C2-C7 lordosis (r = 0.52), but only weakly with cranial cervical parameters. Cervical sagittal alignment compensatory changes in AIS predominantly involve the caudal cervical segment and are closely related to TK, while cranial alignment remains close to normal, supporting horizontal gaze. As opposed to other AIS types with thoracic deformity, Lenke 5 patients had no cervical compensation, and sagittal alignment was close to normal. Distinguishing normative from pathologic compensation across AIS curve types may help optimize surgical planning and restoration of TK to indirectly improve cervical alignment.
BACKGROUND:Intrahepatic cholangiocarcinoma (ICCA) is a rare but highly lethal adenocarcinoma arising within the hepatic parenchyma. Diagnosis presents a significant clinical challenge as the histological features of ICCA substantially overlap with those of metastatic liver cancers. This diagnostic ambiguity often necessitates extensive and costly exclusionary investigations, such as upper and lower gastrointestinal endoscopy, to rule out an occult primary site. Consequently, this process results in treatment delays and an increased financial burden on health care systems. PATIENTS AND METHODS:We retrospectively analyzed 544 patients across five European centers, comprising cases of either ICCA or metastases from extrahepatic cancers. Three deep-learning architectures utilizing foundation models were investigated: CTranspath/HistoBistro, UNI/CLAM, and CONCH/TITAN. Performance was assessed using the area under the receiver operating characteristic curve (AUROC) and the false-positive rate (FPR). Furthermore, we implemented a confidence estimation system using the generalized-ODIN (G-ODIN) approach, utilizing predictive entropy as a metric. The final model, designated AI2CCA, was prospectively validated in 161 patients across four international centers in France, India, and Korea. RESULTS:In the retrospective test set, the CONCH/TITAN architecture yielded the best performance (AUROC 0.840). Predictive entropy derived via G-ODIN was significantly higher in misclassified cases, validating its utility as a confidence metric. Implementation of confidence thresholding improved the AUROC to 0.958 with an FPR of 0, while retaining 46% of samples for high-confidence prediction. In prospective validation, AI2CCA achieved AUROCs of 1.00 and 0.965 in the French and Asian cohorts, respectively (with only one misclassified case in the Asian series). CONCLUSIONS:Collectively, our study demonstrates the real-world clinical utility of a confidence-based artificial intelligence biomarker for assisting in the diagnosis of liver cancer. By accurately discriminating ICCA from metastasis, this tool offers the potential to reduce unnecessary investigations and accelerate therapeutic decision-making.
Ocular albinism (OA1) is a rare X-linked recessive disorder caused by alterations of the GPR143 gene. Typically, only males are classically affected, whereas heterozygous carrier females are not clinically affected due to random X chromosome inactivation. We report two cases of female patients presenting with clinical features typical of OA1, caused in one case by the presence of a homozygous pathogenic variant in a consanguineous context, and in the other case by X-inactivation bias, with the heterozygous pathogenic variant – bearing chromosome being active in nearly 100% of cells. The phenotype of these two female patients is undistinguishable from that of males with OA1. These data indicate that ocular albinism caused by loss of function of the GPR143 gene must not be overlooked in female patients.
Contexte L’altération de la mémoire épisodique verbale est un marqueur clé de la maladie d’Alzheimer, mais il existe peu d’outils francophones simples, très sensibles et relativement rapides à administrer, pour la détection de ce trouble au sein d’une population âgée. Nous avons donc conçu le Short Multicategory Audioverbal Reminding Test 9 Items (SMART-9), inspiré des versions courtes du California Verbal Learning Test en anglais et en chinois, et évalué sa pertinence clinique. Méthodes Etude cas-témoins multicentrique a comparant trois groupes de sujets de 65 ans et plus : patients Alzheimer à un stade débutant ou modéré de troubles neurocognitifs (TNC) majeurs, patients Alzheimer au stade de TNC légers et sujets contrôles indemnes de TNC. L’objectif principal était d’évaluer la performance diagnostique du SMART-9 pour distinguer ces groupes. Dans des sous-échantillons, nous avons également comparé ses performances avec celles du test des 5 mots de Dubois et celles du rappel libre rappel indicé 16 items (RL/RI-16). Résultats Avec le SMART-9, un score inférieur ou égal à 2 au rappel libre à 10minutes distinguait parfaitement les patients Alzheimer à un stade débutant ou modéré de TNC majeurs des contrôles (sensibilité et spécificité de 100 %). Pour différencier les patients Alzheimer à un stade de TNC légers des contrôles, les seuils les plus discriminants étaient un nombre de fausses reconnaissances supérieur ou égal à 1 (sensibilité 100 %, spécificité 87 %) chez les<75 ans, et un rappel libre à 10minutes inférieur ou égal à 3 (sensibilité 100 %, spécificité 91 %) chez les 75 ans et plus. Dans les sous-échantillons, le SMART-9 surpassait le test des 5 mots de Dubois et était comparable au RL/RI-16. Conclusion Le SMART-9 présente de très bonnes qualités psychométriques qui en font un outil efficace pour le dépistage précoce et le diagnostic de la maladie d’Alzheimer.
