Clinical and genetic features of patients suffering from CMT4J.

Mutations in the FIG4 gene have been identified in various diseases, including amyotrophic lateral sclerosis, Parkinson's disease, and Charcot-Marie-Tooth 4 J (CMT4J), with a wide range of phenotypic manifestations. We present eight cases of CMT4J patients carrying the p.Ile41Thr mutation of FIG4.

Is the shock index correlated with blood loss? An experimental study on a controlled hemorrhagic shock model in piglets.

Introduction: The quantification of blood loss in a severe trauma patient allows prognostic quantification and the engagement of adapted therapeutic means. The Advanced Trauma Life Support classification of hemorrhagic shock, based in part on hemodynamic parameters, could be improved. The search for reproducible and non-invasive parameters closely correlated with blood depletion is a necessity.

Castration-Resistant Prostate Cancer: From Uncovered Resistance Mechanisms to Current Treatments.

Prostate cancer (PC) is the second most common cancer in men worldwide. Despite recent advances in diagnosis and treatment, castration-resistant prostate cancer (CRPC) remains a significant medical challenge. Prostate cancer cells can develop mechanisms to resist androgen deprivation therapy, such as AR overexpression, AR mutations, alterations in AR coregulators, increased steroidogenic signaling pathways, outlaw pathways, and bypass pathways.

Non-invasive temporal interference electrical stimulation of the human hippocampus.

Deep brain stimulation (DBS) via implanted electrodes is used worldwide to treat patients with severe neurological and psychiatric disorders. However, its invasiveness precludes widespread clinical use and deployment in research. Temporal interference (TI) is a strategy for non-invasive steerable DBS using multiple kHz-range electric fields with a difference frequency within the range of neural activity.

Human thalamic low-frequency oscillations correlate with expected value and outcomes during reinforcement learning.

Reinforcement-based adaptive decision-making is believed to recruit fronto-striatal circuits. A critical node of the fronto-striatal circuit is the thalamus. However, direct evidence of its involvement in human reinforcement learning is lacking.

In silico and in vitro metabolism studies of the new synthetic opiate AP-237 (bucinnazine) using bioinformatics tools.

The recent emergence of new synthetic opioids (NSOs) compounds in the illicit market is increasingly related to fatal cases. Identification and medical care of NSO intoxication cases are challenging, particularly due to high frequency of new products and extensive metabolism. As the study of NSO metabolism is crucial for the identification of these drugs in cases of intoxication, we aimed to investigate the metabolism of the piperazine NSO AP-237 (= bucinnazine).

Accidental parathyroidectomy during total thyroidectomy and hypoparathyroidism in a large series of 766 patients: incidence and consequences in a referral center.

Purpose: Transient hypoparathyroidism is the most common complication after total thyroidectomy, and accidental parathyroidectomy (AP) may be a cause. The aim of this study was to investigate the incidence of AP and its impact on postoperative calcemia.

Materials And Methods: From February 2016 to May 2018, 766 patients undergoing total thyroidectomy were prospectively included.

Cirq® robotic assistance for percutaneous kyphoplasty of C1: report on feasibility.

Background: To report the feasibility and safety of C1 kyphoplasty using the Cirq® robotic assistance coupled to the AIRO® intraoperative computed tomography (iCT)-scan and BrainLab® navigation system.

Methods: A 47-year-old woman with C1 osteolytic lesion responsible of intractable left-sided suboccipital pain was admitted. She underwent a percutaneous kyphoplasty of left lateral mass of C1 using Cirq® robotic assistance.

Prognostic factors after acute mesenteric ischemia: which patients require specific management?

Purpose: Diagnosis and treatment of AMI are a real issue for implicating physicians. In the literature, only one AMI stroke center has reported its results so far, with increasing survival rates. Our aim was to analyze acute mesenteric ischemia (AMI) related mortality and predictive factors, in a single academic center, before creating a dedicated intestinal stroke center.

Multicentric case series of scuba diving fatalities: The role of intracardiac gaseous carbon dioxide in the forensic diagnosis.

Scuba diving fatalities post-mortem diagnosis presents a higher level of forensic complexity because of their occurrence in a non-natural human life environment. Scuba divers are equipped with diving gas to breathe underwater. It is essential for them to be fully trained in order to be able to manage their dive safely despite the varying increase of ambient pressure and temperature decrease.

Cytidine deaminase status as a marker of response to azacytidine treatment in MDS and AML patients.

Azacitidine (Aza) is a mainstay of treatment for patients with acute myeloid leukaemia (AML) ineligible for induction chemotherapy and other high-risk myelodysplastic syndromes (MDS). Only half of patients respond, and almost all will eventually relapse. There are no predictive markers of response to Aza.

Local excision after neoadjuvant chemoradiotherapy for mid and low rectal cancer: a multicentric French study from the GRECCAR group.

Aim: A complete or subcomplete tumour response (CTR) is observed in 10%-25% of patients with mid/low rectal cancer after neoadjuvant chemoradiotherapy (CRT). The aim of our study was to report a multicentric French experience in local excision (LE) after CRT.

Method: All patients who underwent LE for mid/low rectal cancer with suspected CTR after CRT, from 2006 to 2019 in seven GRECCAR centres were included.

High Tumor Uptake on F-FDOPA PET/CT Indicates Poor Prognosis in Patients with Metastatic Midgut Neuroendocrine Tumors: A Study from the Groupe d'étude des Tumeurs Endocrines and ENDOCAN-RENATEN Network.

PET/CT with 6-F-fluoro-l-dopa (F-FDOPA) has high diagnostic performance for midgut neuroendocrine tumors (NETs). We explored the prognostic role of F-FDOPA PET/CT uptake in metastatic midgut NETs. We included, in a test cohort ( = 166) and a full external validation cohort ( = 86), all consecutive patients with metastatic midgut NETs who underwent F-FDOPA PET/CT in 5 expert centers from 2010 to 2021.

Effect of LED photobiomodulation on dental implant osseointegration: An in vivo study.

Background: Photobiomodulation (PBM) may be prescribed after dental surgery to accelerate tissue healing and improve implant stability. The objective of this study is to evaluate the efficiency of LED-PBM on the dental implant osseointegration.

Methods: A total of 48 implants (Kontact) were inserted in 8 Yucatan minipigs (6 implants per minipig) divided into 2 groups (test and control).

Management of Spinal Metastasis by Minimally Invasive Surgical Techniques: Surgical Principles and Indications-A Literature Review.

Background: Spinal metastasis is becoming more frequent. This raises the topics of pain and neurological complications, which worsen the functional and survival prognosis of oncological population patients. Surgical treatment must be as complete as possible in order to decompress and stabilize without delaying the management of the oncological disease.

-Lactam Pharmacokinetic/Pharmacodynamic Target Attainment in Intensive Care Unit Patients: A Prospective, Observational, Cohort Study.

Background: The aims of this study were to describe pharmacokinetic/pharmacodynamic target attainment in intensive care unit (ICU) patients treated with continuously infused -lactam antibiotics, their associated covariates, and the impact of dosage adjustment.

Methods: This prospective, observational, cohort study was performed in three ICUs. Four -lactams were continuously infused, and therapeutic drug monitoring (TDM) was performed at days 1, 4, and 7.

Epithelioid hemangio-endothelioma (EHE) in NETSARC: The nationwide series of 267 patients over 12 years.

Epithelioid Hemangioendothelioma: A NATIONWIDE STUDY: Epithelioid hemangioendothelioma (EHE) is an ultrarare sarcoma whose natural history and treatment is not well defined. We report on the presentation and outcome of 267 patients with EHE in the NETSARC+ network since 2010 in France.

Patients And Methods: NETSARC (netsarc.

Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update.

Poroma is a benign sweat gland tumour showing morphological features recapitulating the superficial portion of the eccrine sweat coil. A subset of poromas may transform into porocarcinoma, its malignant counterpart. Poroma and porocarcinoma are characterised by recurrent gene fusions involving YAP1, a transcriptional co-activator, which is controlled by the Hippo signalling pathway.

Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.

Context: Familial hypocalciuric hypercalcemia type 1 (FHH-1) defines an autosomal dominant disease, related to mutations in the CASR gene, with mild hypercalcemia in most cases. Cases of FHH-1 with a short QT interval have not been reported to date.

Objective: Three family members presented with FHH-1 and short QT interval (<360 ms), a condition that could lead to cardiac arrhythmias, and the effects of cinacalcet, an allosteric modulator of the CaSR, in rectifying the abnormal sensitivity of the mutant CaSR and in correcting the short QT interval were determined.