CLOSE-Guided Pulmonary Vein Isolation to Treat Persistent Atrial Fibrillation: 1-Year Outcome.

Background: CLOSE-guided pulmonary vein isolation (PVI) is based on contiguous and optimized (Ablation Index-guided) radiofrequency lesions. The efficacy of CLOSE-guided PVI in persistent atrial fibrillation (AF) treatment has been poorly evaluated.

Methods: In two centers, 50 patients eligible for persistent AF ablation underwent CLOSE-guided PVI (Ablation Index ≥ 450 at the anterior wall, ≥300 at posterior wall, intertag distance ≤ 6 mm).

Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey.

Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration of human papillomavirus type 42 (HPV42) has been reported in digital papillary adenocarcinoma (DPA). The main objectives of the present study were (i) to provide an overview of the prevalence of previously identified oncogenic drivers in acral sweat gland tumors and (ii) to genetically characterize tumors in which no recurrent genetic alteration has been identified yet.

Digital Papillary Adenocarcinoma in Nonacral Skin: Clinicopathologic and Genetic Characterization of 5 Cases.

Digital papillary adenocarcinoma (DPA) is a rare sweat gland neoplasm that has exceptionally been reported outside acral locations. Recently, human papillomavirus 42 was identified as the main oncogenic driver of DPA. Herein, we report 5 tumors arising in extra-acral locations predominantly in the female anogenital skin.

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Background: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later onset forms of NP-C, its efficacy in the early-infantile neurological form has not been demonstrated. In this observational retrospective study, we compared long-term neurodevelopmental outcome and survival between an untreated and a treated group of early infantile NP-C patients.

Impact of Next-Generation Sequencing in Diagnosis, Prognosis and Therapeutic Management of Acute Myeloid Leukemia/Myelodysplastic Neoplasms.

For decades, the diagnosis, prognosis and thus, the treatment of acute myeloblastic leukemias and myelodysplastic neoplasms has been mainly based on morphological aspects, as evidenced by the French-American-British classification. The morphological aspects correspond quite well, in a certain number of particular cases, to particular evolutionary properties, such as acute myelomonoblastic leukemias with eosinophils or acute promyelocytic leukemias. Advances in biology, particularly "classical" cytogenetics (karyotype) and molecular cytogenetics (in situ hybridization), have made it possible to associate certain morphological features with particular molecular abnormalities, such as the pericentric inversion of chromosome 16 and translocation t(15;17) in the two preceding examples.

Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study.

Background: The risk of neuropsychological disorders appears to be high in hyperphenylalaninemia (HPA). The hypothesis of executive function impairment is prominent in accounting for the neuropsychological phenotype in phenylketonuria (PKU) and is suspected in moderate hyperphenylalaninemia (MHP). However, the issue of early onset of executive disorders remains.

Unplanned surgery after colorectal resection: laparoscopy at the index surgery is a protective factor against mortality.

Background: The aim of this study was to assess risk factors of mortality after unplanned surgery following colorectal resection.

Methods: All the consecutive patients who underwent colorectal resection between 2011 and 2020 in a French national cohort were retrospectively included. Perioperative data of the index colorectal resection (indication, surgical approach, pathological analysis, postoperative morbidity), and characteristics of unplanned surgery (indication, time to complication, time to surgical redo) were assessed in order to identify predictive factors of mortality.

Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.

Mutations in the PNLIP gene have recently been implicated in chronic pancreatitis. Several PNLIP missense variants have been reported to cause protein misfolding and endoplasmic reticulum stress although genetic evidence supporting their association with chronic pancreatitis is currently lacking. Protease-sensitive PNLIP missense variants have also been associated with early-onset chronic pancreatitis although the underlying pathological mechanism remains enigmatic.

Transdermal Nicotine Poisoning: A Rare Case Report of Occupational Exposure.

We report a case of accidental nicotine intoxication following transdermal exposure in a 22-year-old man with no medical history, who worked in a company manufacturing e-liquids for electronic cigarettes. He accidentally spilled 300 mL of pure nicotine solution (>99%) on his right leg without wearing protective clothing or a mask. Less than a minute later, he experienced dizziness, nausea, and headaches, followed by painful burning sensations in the affected area.

Recurrent PAK2 rearrangements in poroma with folliculo-sebaceous differentiation.

Aims: Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent YAP1::MAML2 and YAP1::NUTM1 fusion in poroma and porocarcinoma.

Validation of a non-targeted method devoted to identification and quantitation of toxicologically relevant compounds in plasma with HRMS.

The objective of this study was to develop and validate a simple method using liquid chromatography hyphenated to high resolution mass spectrometry (HRMS) allowing both the performance of a non-targeted screening and the simultaneous quantification of 29 compounds of interest in clinical and forensic toxicology. Extraction was done with QuEChERS salts and acetonitrile, after addition of internal standard to 200 μL of human plasma samples. The mass spectrometer was an Orbitrap, with a heated electrospray ionization (HESI) probe.

Phenotype and imaging features associated with APP duplications.

Background: APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers.

Methods: Clinical, radiological, and neuropathological features of 43 APP duplication carriers from 24 French families were retrospectively analyzed, and MRI features and cerebrospinal fluid (CSF) biomarkers were compared to 40 APP-negative CAA controls.

Functional and oncological outcome of petroclival chondrosarcoma operated on through an extradural anterior petrosectomy approach. A single center experience.

Background: Management of skull base chondrosarcoma (SBC) remains challenging due to its deep location and complex growth pattern. Non-total resection and postoperative residual mass are common features, with controversy regarding the need to offer systematic postoperative radiation therapy or additional surgery.

Methods: A single-center retrospective cohort study was conducted on 10 consecutive patients harboring petroclival chondrosarcomas that were operated on between May 2007 and March 2019.

[Guidelines of the French National ENDOCAN-COMETE, Association of Endocrine Surgery, Society of Urology for the management of adrenocortical carcinoma].

The adrenocortical carcinoma (ACC) is a primary malignant tumor developed from the adrenal cortex, defined by a Weiss score≥3. Its prognosis is poor and depends mainly on the stage of the disease at diagnosis. Care is organized in France by the multidisciplinary expert centers of the national ENDOCAN-COMETE "Adrenal Cancers" network, certified by the National Cancer Institute.