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The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review
No full textInternational audienceIntellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndromecaused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinicaland molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohortpresented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristicdysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge. New phenotypic features identified in-clude palpebral oedema, laterally elongated eyebrows, low hanging columella and hypertrichosis. Neuropsychological assess-ment reveals a predominance of mild to moderate ID, with cognitive profiles showing variability in verbal and visual processing.Structural abnormalities such as agenesis of the corpus callosum and ocular defects were noted, consistent with previous studiesbut with some differences. Familial analysis revealed variability in clinical expression. Our findings highlight the diverse clin-ical manifestations of BRPF1-related disorders and suggest that comprehensive ophthalmological evaluation is essential for themanagement of these patients
Home noninvasive ventilation in pediatric patients: Does one size fit all?
No full textInternational audienceBackground: A French national survey showed that 1447 children were treated with long-term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in 2019. Data about the ventilatory settings for children are scarce. The aim of the study was to report the CPAP/NIV settings from the survey according to the patients’ age and disorders.Methods: CPAP and NIV settings were compared between 5 age groups (<1, 1–5, 6–11, 12–17 and ≥ 18 years), and 6 disease categories (upper airway disorders; neuromuscular disease, NMD; disorder of the central nervous system; cardiorespiratory disorder; congenital bone disease, CBD; and other).Results: Age correlated positively with constant CPAP pressure (r = 0.364, p < 0.0001), and negatively with CPAP adherence (r = −0.173, p < 0.0001). Mean age at CPAP initiation, CPAP pressures and adherence did not differ between disorders. Regarding NIV, mean inspiratory positive airway pressure (IPAP) increased with age (r = 0.152, p = 0.0001), whereas respiratory rate (RR; r = −0.593, p < 0.0001) and adherence to NIV decreased with age (r = −0.154, p = 0.0002). NIV settings were quite similar between disease categories, with the CBD group having the highest IPAP, and NMD group having the lowest expiratory positive airway pressure and RR. Adherence tended to be higher with NIV than CPAP.Conclusions: CPAP pressure and IPAP increase with age, while settings seem quite similar between diseases. Even if our study provides some information about CPAP/NIV settings, they should always be individually adapted according to the severity of the diseas
Restoring the native knee or designing the ‘optimal prosthetic’: Alignment, phenotypes and AI‐powered personalization in total knee arthroplasty
No full textInternational audienceFew questions in modern total knee arthroplasty (TKA) generate as much debate as whether the surgeon's goal should be to restore the native pre‐arthritic knee, with all its inherent characteristics, or to aim for what could be described as an ‘optimal’ prosthetic knee, independent of the patient's original anatomy. This discussion touches the very core of our understanding of knee arthroplasty: are we restoring a joint, or are we engineering a new one
Towards a Library for the Analysis of Temporal Sequences
No full textInternational audienceThis article introduces TanaT, an open-source framework for temporal sequences analysis. Temporal sequences are made of complex events, described by qualitative and quantitative features, with a contiguous temporal footprint. Such kind of data are encountered in a wide range of applications (medicine, social science, traces analysis, education, etc.) and their analysis requires taking into account the longitudinality of the data. The proposed framework aims to empower data analysts with a coherent toolbox for handling such temporal sequences at all stages of the analysis process: data loading, data pre-processing and transformation, data analysis and data visualization. In this article, we introduce our framework, focusing on the distance-based clustering of temporal sequences. The complex nature of temporal entities requires versatility in defining distances between sequences and we highlight how TanaT addresses this challenge. https://gitlab.inria.fr/tanat/core/</a
Assessing the Annual Risk of Recurrence Following Complete Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) for Diffuse Malignant Peritoneal Mesothelioma Patients
No full textInternational audienceSelected diffuse malignant peritoneal mesothelioma (DMPM) patients may be radically treated with complete cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). Two thirds of them recur with the possibility of iterative CRS-HIPEC and/or systemic chemotherapy. The postoperative follow-up management is based on scarce data. The recurrence profile was explored in a large national database to challenge the standard follow-up protocol
Allogeneic Hematopoietic Stem Cell Transplantation for Elderly Acute Lymphoblastic Leukemia Patients: A Registry Study From the Société Francophone de Greffe de Moelle et Thérapie Cellulaire (SFGM-TC).
No full textInternational audienceABSTRACT There are very limited data regarding the outcomes of elderly patients with acute lymphoblastic leukemia (ALL) who undergo allogeneic hematopoietic stem cell transplantation (alloHSCT). A total of 316 ALL patients aged ≥ 60 years who underwent alloHSCT between 2010 to 2022 were identified in the SFGM‐TC registry. The primary objective was to evaluate progression‐free survival (PFS), non‐relapse mortality (NRM), relapse incidence (RI), and graft‐versus‐host disease (GvHD)‐free relapse‐free survival (GRFS), as well as their risk factors. The median age was 63.8 years (range 60–75.8), 49.8% of patients had Philadelphia‐positive B‐ALL (Ph + ALL), and 70.9% were in first complete remission (CR1) at transplantation. The donor was an unrelated donor in 52.1%, a matched related donor (MRD) in 26.3%, and a haplo‐identical donor in 17.7%. Reduced‐intensity conditioning (RIC) was administered to 64.6% of patients, while total body irradiation (TBI) was used in 35.8%. The 3‐year overall survival (OS) was 46% (95% CI 40%–53%). The 3‐year PFS, NRM, RI, and GRFS were 41% (95% CI 35%–48%), 23% (95% CI 18%–28%), 36% (95% CI 31%–42%), and 30% (95% CI 25%–37%), respectively. Multivariable analyses confirmed poorer OS and PFS in patients with advanced disease, with an HR of 1.79 (95% CI 1.22–2.64), p = 0.0032. Additionally, the ALL subtype significantly impacted outcomes, with an HR of 1.99 (95% CI 1.42–2.79) for non‐Ph + ALL. This study suggests that alloHSCT is a viable option for elderly ALL patients, as age itself did not impact outcomes. However, advanced disease and non‐Ph + ALL were associated with significantly worse survival
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort
No full textInternational audienceAbstract Context Congenital adrenal hyperplasia can be due to 11β-hydroxylase deficiency (11βOHD). Sporadic reports of 11βOHD are frequent but overviews on molecular landscape in some populations are lacking. Objective The aim of this research was to compile a genetic landscape from an 11βOHD cohort, and to report a novel yet recurrent splice variant. Methods An overview of CYP11B1 variants in a cohort of 11βOHD is presented here. The functional effect of NM_000497.4(CYP11B1):c.954 + 148C > G was studied in silico and in vitro, and a genotype-phenotype correlation study (“SPLICYP” study, No. 22_1787) was conducted. Patients with 11βOHD who underwent genetic testing at the biochemistry and molecular biology department were considered for inclusion. A total of 250 patients, diagnosed from 1990 to 2024, underwent CYP11B1 sequencing. Forty-four patients carried a novel deep intronic variant (NM_000497.4(CYP11B1):c.954 + 148C > G). Four were excluded from genotype-phenotype correlation due to missing criteria. Functional validation was performed using a Minigene Reporter Assay. We retrospectively analyzed genetic findings, clinical features of 11βOHD, and hormonal assays. Results The Minigene study confirmed that c.954 + 148C > G disrupts splicing by activating a cryptic donor site. Patients carrying this variant had significantly lower steroid precursor levels (P < .034) and delayed pubertal onset (P = .005) compared to severe variant carriers. Conclusion This retrospective study provides genetic data in a wide cohort of 11βOHD, and identifies c.954 + 148C > G as the most recurrent variant in our Caucasian participant recruitment. Screening of deep intronic regions, coupled with functional in vitro tools, must not be overlooked in the strategy to avoid diagnostic failure
