Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Rare monogenic disorders often exhibit significant phenotypic variability among individuals sharing identical genetic mutations. Bruck syndrome (BS), a prime example, is characterized by bone fragility and congenital contractures, although with a pronounced variability among family members. BS arises from recessive biallelic mutations in FKBP10 or PLOD2.

[Health is a serious matter : so let's play ! Part 2 : an overview of «serious gaming» in mental health].

In a first article we highlighted the importance of serious gaming in physical medicine and in rehabilitation. In this second article on the same topic, we discuss the potential impact of serious gaming in the field of mental health. The technical aspects, advantages and disadvantages, limits and pitfalls are rapidly overviewed in different areas such as addiction, anxiety, autism, depression, schizophrenia, attention disorders, post-traumatic stress syndrome, obsessive compulsive disorders and memory disorders.

[Health is a serious matter : so let's play ! Part 1 : an overview of «serious gaming» in physical medicine and rehabilitation].

The lack of physical activity is widespread among our populations affecting all age groups from youngsters to older adults, heavily impacting health in general (physical as well as mental health). The main objective of serious gaming is not simply providing entertainment and fun. It aims at achieving specific health-related goals in an efficient and pleasant way.

[The computerized medical record. From lost illusions to the hope of renewal].

Although the principle of recording and transmitting patient data is not new, the computerized medical record used in today's practice of care still does not meet the needs. We can easily - and often rightly - cast shame on the designers of those medical records and on administrators of our care institutions, but we as caregivers do need to share responsibility. If we really intend to use multiple sources of data wisely, in order to increase global health status at the individual level or for a population, we need to understand clearly the multiple dimensions of data and therefore acquire a real data culture.

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing.

Arrhythmogenic cardiomyopathy is a severe genetic heart muscle disease characterized by fibro-fatty replacement of the myocardium. Pathogenic variants causal for this disease are mainly located in desmosomal genes, including desmoplakin (DSP). Renal epithelial cells were isolated from a patient carrying the heterozygous c.

Development of a cancer risk model and mobile health application to inform the public about cancer risks and risk factors.

Objective: To develop and evaluate a mobile health application, the Cancer Risk Calculator (CRC), aimed at improving public health literacy by providing personalized information on cancer risks and preventive measures.

Materials And Methods: The CRC was developed through a comprehensive process involving the identification of necessary content, integration of average cancer risks using data from reliable sources, creation of a novel risk model emphasizing modifiable factors, and the application's development for easy access. The application covers 38 cancer types, 18 subtypes, and approximately 790 risk factors, utilizing data from the Surveillance, Epidemiology, and End Results Program and scientific literature.

[Network science. Part 2 : in radiotherapy].

In a former publication, we summarized basic principles of network science in order to understand its potential, especially within the field of oncology. This rather young science offers, for example, the opportunity to identify new systemic treatment options. However, these are not the only therapeutic options within the arsenal devoted to the battle against cancer.

[Network science. Part 1 : in oncology in general].

The overwhelming avalanche of data issued from the omics cascade, and particularly the mapping of protein-protein interaction (interactome), allows us to dissect the complexity and overlapping of diseases, as well as their management. With the help of theoretical and scientific bases issued form network science, as well as the rapid evolution of artificial intelligence, in particular machine learning (with its high speed and capacity), we are able today to uncover new driver genes, new biomarkers, new interactions with diagnostic and therapeutic modalities (even for an individual patient). It also opens new perspectives in the fields of prediction of response to treatment as well as prevention.

[Should fire cutters be thrown into the fire ?].

Spirituality (in addition to laughter) is inherent to humans. When their health deteriorates, especially in the field of oncology, people often seek help through it. Prayer is the most commonly used tool and is sometimes entrusted to a particular person believed to possess certain powers referred to as a «fire cutter».

[Sexual health and oncology].

Over the past 20 years, the number of new cancer diagnoses has risen steadily, partly due to the aging of the population. In 2021, 74,998 new diagnoses were recorded in Belgium. At the same time, improved screening techniques and advances in oncology treatments have increased patient survival.

[Anal canal cancer : epidemiology, work-up, treatment and perspective].

Although rare, around 2 % of digestive tumours, anal canal tumours remain a pathology that should not be neglected. These are frequently underdiagnosed due to the affected region and the symptoms that can be confused with more common and benign pathologies such as haemorrhoids or anal fissures. The treatment of these tumours is mainly based on radio-chemotherapy to avoid heavy surgical treatment which remains the salvage option.

[The place of radiation therapy following radical prostatectomy in 2024].

Radiation therapy after prostatectomy for a prostate cancer is a recommended treatment in case of biochemical relapse (rising PSA) following surgery. Controversies regarding its optimal use, delivery, and toxicities are often discussed, not only within scientific congresses but also during multidisciplinary oncological boards. This article aims at making an assessment of up-to-date knowledge and recommendations to guide decision making regarding the treatments of patients with prostate cancer.

[Éditorial. La radiothérapie dix ans après].

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An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome.

Marfan syndrome is a rare connective tissue disorder that causes aortic dissection-related sudden death. Current conventional treatments, beta-blockers, and type 1 angiotensin II receptor blockers are prescribed to slow down aortic aneurysm progression and delay (prophylactic) aortic surgery. However, neither of these treatments ceases aortic growth completely.

Identification of CT radiomic features robust to acquisition and segmentation variations for improved prediction of radiotherapy-treated lung cancer patient recurrence.

The primary objective of the present study was to identify a subset of radiomic features extracted from primary tumor imaged by computed tomography of early-stage non-small cell lung cancer patients, which remain unaffected by variations in segmentation quality and in computed tomography image acquisition protocol. The robustness of these features to segmentation variations was assessed by analyzing the correlation of feature values extracted from lesion volumes delineated by two annotators. The robustness to variations in acquisition protocol was evaluated by examining the correlation of features extracted from high-dose and low-dose computed tomography scans, both of which were acquired for each patient as part of the stereotactic body radiotherapy planning process.

Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples.

Rapidly evolving genomic technologies have made genetic expanded carrier screening (ECS) possible for couples considering a pregnancy. The aim of ECS is to identify couples at risk of having a child affected with a severe disorder and to facilitate their reproductive decision-making process. The ECS test we offer at our center, called BeGECS (Belgian Genetic ECS), consists of 1268 autosomal recessive (AR) and X-linked pathogenic genes, including severe childhood-onset disorders.

[In matters of health we should all be equal : unfortunately some are more equal than others …].

In 1978, at Alma Ata, it was clearly claimed that inequities in health are simply not acceptable. Each individual should be able to achieve the highest possible level of health (in its holistic definition). This should be considered as a fundamental human right.

Various repair events following CRISPR/Cas9-based mutational correction of an infertility-related mutation in mouse embryos.

Purpose: Unpredictable genetic modifications and chromosomal aberrations following CRISPR/Cas9 administration hamper the efficacy of germline editing. Repair events triggered by double-strand DNA breaks (DSBs) besides non-homologous end joining and repair template-driven homology-directed repair have been insufficiently investigated in mouse. In this work, we are the first to investigate the precise repair mechanisms triggered by parental-specific DSB induction in mouse for paternal mutational correction in the context of an infertility-related mutation.

[Get used to digital therapeutics (DTx) : they will take the scene in health care !].

Digital therapeutics are making headways in medical treatment at large. They are used alone or in combination with standard medical treatment in various fields, aiming at essentially behavioral changes. As we are facing a growing imbalance between demand and resources, these digital treatments offer a powerful way for patient empowerment.

[Should we add metaverse to the future medical lexicon ?].

I's too early, nowadays, to assess the potential impact on healthcare of a nascent concept such as the metaverse. The technical tools necessary to construct it are readily available, and for some of them already independently used in selected domains of medical care, with success. The convergence of the construction stones will result in an extended reality.

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Introduction: Counseling osteogenesis imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life.

Methods: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years; while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected.

Predictive clinical and dosimetric parameters for risk of relapse in early-stage non-small cell lung cancer treated by SBRT: A large single institution experience.

Purpose: To evaluate the impact of dosimetric parameters on efficacy of stereotactic body radiation therapy (SBRT) in early-stage non-small cell lung cancer (ES-NSCLC), using Hypofractionated Treatment Effects in the Clinic (HyTEC) reporting standards.

Methods: From April 2010 to December 2020, 497 patients who received SBRT for ES-NSCLC at the University Hospital of Liège were retrospectively enrolled. A total dose of 40 to 60 Gy in 3-5 fractions (72-180 Gy biologically effective dose with an α/β ratio of 10 (BED)) was prescribed to the 80 % isodose line of the PTV.