Upadacitinib for Induction of Remission in Pediatric Ulcerative Colitis: An International Multi‑center Study.

Background And Aims: Data on upadacitinib therapy in children with ulcerative colitis (UC) or unclassified inflammatory bowel disease (IBD-U) are scarce. We aimed to evaluate the effectiveness and safety of upadacitinib as an induction therapy in pediatric UC or IBD-U.

Methods: In this multicenter retrospective study, children treated with upadacitinib for induction of remission of active UC or IBD-U from 30 centers worldwide were enrolled.

Determinants of Positive Evolution of Symptoms in Children with Autism Spectrum Disorders (ASD) during the COVID-19 Lockdown in the Democratic Republic of Congo. (DRC).

Lockdown imposed by the COVID 19 pandemic increased the time families spent together at home. A negative impact of the lock-down on children with autism has been reported. Few studies described the positive impact of parents' presence on the severity of their children's autism symptoms during lockdown.

PHARC syndrome: an overview.

PHARC, polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and cataracts, or PHARC is a very rare progressive neurodegenerative autosomal recessive disease caused by biallelic mutations in the ABHD12 (a/b-hydrolase domain containing 12) gene, which encodes a lyso-phosphatidylserine (lyso-PS) lipase. The Orpha number for PHARC is ORPHA171848. The clinical picture of PHARC syndrome is very heterogeneous with a wide range of age at onset for each symptom, making a clinical diagnosis very challenging.

Characterizing the dynamics, reactivity and controllability of moods in depression with a Kalman filter.

Background: Mood disorders involve a complex interplay between multifaceted internal emotional states, and complex external inputs. Dynamical systems theory suggests that this interplay between aspects of moods and environmental stimuli may hence determine key psychopathological features of mood disorders, including the stability of mood states, the response to external inputs, how controllable mood states are, and what interventions are most likely to be effective. However, a comprehensive computational approach to all these aspects has not yet been undertaken.

Non-invasive prenatal testing: when results suggests maternal cancer.

It is now well-established that non-invasive prenatal testing (NIPT), originally designed to screen cell-free DNA (cfDNA) in maternal blood for the presence of common fetal trisomies, can lead to incidental detection of occult maternal malignancies. Retrospective evaluations have demonstrated that the detection of multiple copy number alterations in cfDNA is particularly suggestive of an incipient tumor and that cancer detection rates not only depend on tumor biology but also on applied NIPT technologies and downstream diagnostic investigations. Since the identification of a maternal cancer in pregnancy has implications for both woman and the unborn child, prospective studies are needed to provide evidence on best clinical practices and on clinical utility in terms of patient outcomes.

Comprehensive Recommendations for the Clinical Management of Pregnant Women With Noninvasive Prenatal Test Results Suspicious of a Maternal Malignancy.

In this article, we defined comprehensive recommendations for the clinical follow-up of pregnant women with a malignancy-suspicious NIPT result, on the basis of the vast experience with population-based NIPT screening programs in two European countries complemented with published large data sets. These recommendations provide a tool for classifying NIPT results as malignancy-suspicious, and guide health care professionals in structured clinical decision making for the diagnostic process of pregnant women who receive such a malignancy-suspicious NIPT result.

Novel stem cell technologies are powerful tools to understand the impact of human factors on malaria.

parasites have a complex life cycle, but the most clinically relevant stage of the disease is the invasion of erythrocytes and the proliferation of the parasite in the blood. The influence of human genetic traits on malaria has been known for a long time, however understanding the role of the proteins involved is hampered by the anuclear nature of erythrocytes that makes them inaccessible to genetic tools. Here we overcome this limitation using stem cells to generate erythroid cells with an differentiation protocol and assess parasite invasion with an adaptation of flow cytometry to detect parasite hemozoin.

A framework for the clinical implementation of optical genome mapping in hematologic malignancies.

Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the diagnostic scope of conventional standard of care cytogenomic clinical testing but it also adds significant new information in certain cases. Since OGM consolidates the diagnostic benefits of multiple costly and laborious tests (e.

Gene-environment interaction study on the polygenic risk score for neuroticism, childhood adversity, and parental bonding.

The present study examines whether neuroticism is predicted by genetic vulnerability, summarized as polygenic risk score for neuroticism (PRS), in interaction with bullying, parental bonding, and childhood adversity. Data were derived from a general population adolescent and young adult twin cohort. The final sample consisted of 202 monozygotic and 436 dizygotic twins and 319 twin pairs.

Associations between childhood adversity, psychiatric symptoms, and self-esteem outcomes in adolescents and young adults: An experience sampling study.

Objectives: Self-esteem and self-esteem stability are important factors during adolescence and young adulthood that can be negatively impacted by childhood adversity and psychiatric symptoms. We examined whether childhood adversity and psychiatric symptoms are associated with decreased global self-esteem as well as increased self-esteem instability as measured with experience sampling method. In addition, we examined if childhood adversity moderates the association between psychiatric symptoms and self-esteem outcomes.

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord, and result in sleep apnoea and sudden death.

Noninvasive prenatal screening and maternal malignancy: role of imaging.

Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for pregnant women in many countries. It is performed in the first trimester of pregnancy, usually between 9 and 12 weeks.

Chromosome conformation capture approaches to investigate 3D genome architecture in Ankylosing Spondylitis.

Ankylosing Spondylitis (AS) is a chronic inflammatory arthritis of the spine exhibiting a strong genetic background. The mechanistic and functional understanding of the AS-associated genomic loci, identified with Genome Wide Association Studies (GWAS), remains challenging. Chromosome conformation capture (3C) and derivatives are recent techniques which are of great help in elucidating the spatial genome organization and of enormous support in uncover a mechanistic explanation for disease-associated genetic variants.

A model-informed approach to assess the risk of immune checkpoint inhibitor-induced autoimmune myocarditis.

Immune checkpoint inhibitors (ICIs), as a novel immunotherapy, are designed to modulate the immune system to attack malignancies. Despite their promising benefits, immune-related adverse events (IRAEs) may occur, and incidences are bound to increase with surging demand of this class of drugs in treating cancer. Myocarditis, although rare compared to other IRAEs, has a significantly higher fatal frequency.

Trends and correlates of intimate partner violence (IPV) victimization in Rwanda: results from the 2015 and 2020 Rwanda Demographic Health Survey (RDHS 2015 and 2020).

Background: Intimate partner violence (IPV) is reported to be a public health issue given its magnitude and long-lasting consequences. Men are generally thought to be perpetrators of IPV, but they can also be victims. In Rwanda, the experience of men as victims has not yet been described and characterized.

Optimising care and follow-up of adults with achondroplasia.

Background: Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and little is known about the care they receive or how they access it. The European Achondroplasia Forum undertook two exploratory surveys, one for healthcare professionals (HCPs) and one for patient advocacy group (PAG) representatives, to gain an understanding of current practices of the transition process of individuals with achondroplasia from paediatric to adult services and how adults perceive their care.

Smoking remains associated with education after controlling for social background and genetic factors in a study of 18 twin cohorts.

We tested the causality between education and smoking using the natural experiment of discordant twin pairs allowing to optimally control for background genetic and childhood social factors. Data from 18 cohorts including 10,527 monozygotic (MZ) and same-sex dizygotic (DZ) twin pairs discordant for education and smoking were analyzed by linear fixed effects regression models. Within twin pairs, education levels were lower among the currently smoking than among the never smoking co-twins and this education difference was larger within DZ than MZ pairs.

Intimate partner violence as a predictor of antenatal care services utilization in Rwanda.

Background: Although compelling evidence shows that exposure to intimate partner violence (IPV) during pregnancy is detrimental to both physical and mental health of the victims and their fetuses, studies on negative impact of IPV on antenatal care (ANC) services utilization are scarce.

Methods: The aim of the current study was to determine the impact of IPV exposure on ANC services utilization indicators such as (i) initiation of care within the first 3 months of pregnancy, (ii) receipt of at least four ANC visits and (iii) receipt of care from skilled providers among reproductive age women in Rwanda. This study used the data from the 2014-15 Rwanda Demographic and Health Survey.

Educational attainment of same-sex and opposite-sex dizygotic twins: An individual-level pooled study of 19 twin cohorts.

Comparing twins from same- and opposite-sex pairs can provide information on potential sex differences in a variety of outcomes, including socioeconomic-related outcomes such as educational attainment. It has been suggested that this design can be applied to examine the putative role of intrauterine exposure to testosterone for educational attainment, but the evidence is still disputed. Thus, we established an international database of twin data from 11 countries with 88,290 individual dizygotic twins born over 100 years and tested for differences between twins from same- and opposite-sex dizygotic pairs in educational attainment.

Serum gamma-glutamyl transferase, a marker of alcohol intake, is associated with telomere length and cardiometabolic risk in young adulthood.

Studies based on self-reported alcohol consumption and telomere length show inconsistent results. Therefore, we studied the association between gamma-glutamyl transferase (GGT), a widely used biomarker of alcohol intake, and telomere length. The possible health relevance in young adulthood was explored by investigating cardiometabolic risk factors.

Ecological impacts of climate change on the snow leopard (Panthera unica) in South Asia.

Snow leopard (Panthera unica) is a felid which lives in the highly rugged areas of alpine regions in different mountain ranges of South and Central Asia. This solitary animal needs large spaces for its ranges but due to climate change and relatively faster rate of global warming in South Asian mountain ranges, its habitat is going to shrink and fragment by tree-line shifts and change in hydrology of the area. Vegetative modification of montane flora and competition with domestic goats will create its prey's population to decline along with a chance of a direct conflict and competition with the common leopard.

Novel Homozygous Inactivating Mutation in the Gene in an Infant with Congenital Malabsorptive Diarrhea.

Proprotein convertase 1/3 (PC1/3), encoded by the gene, is expressed in neuronal and (entero)endocrine cell types, where it cleaves and hence activates a number of protein precursors that play a key role in energy homeostasis. Loss-of-function mutations in cause a recessive complex endocrinopathy characterized by malabsorptive diarrhea and early-onset obesity. Despite the fact that neonatal malabsorptive diarrhea is observed in all patients, it has remained understudied.

Overnight affective dynamics and sleep characteristics as predictors of depression and its development in women.

Study Objectives: We examined (1) differences in overnight affective inertia (carry-over of evening affect to the next morning) for positive (PA) and negative affect (NA) between individuals with past, current, and no depression; (2) how sleep duration and quality influence overnight affective inertia in these groups, and (3) whether overnight affective inertia predicts depression development.

Methods: We used data of 579 women from the East-Flanders Prospective Twin Survey. For aim 1 and 2, individuals with past (n = 82), current (n = 26), and without (lifetime) depression (n = 471) at baseline were examined.