Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.

Myelodysplastic neoplasia with complex karyotype (CK-MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision-making in MDS. However, the current standard-of-care (SOC) cytogenetic testing, relying on karyotyping, often yields ambiguous results in cases with CK.

Prevalence of Acetabular Dysplasia at a Mean age of 18 Years After Treatment for Neonatal hip Instability.

Background: The long-term radiological outcomes after the treatment of neonatal hip instability (NHI) in developmental dysplasia of the hip are unclear. Therefore, the prevalence of acetabular dysplasia at a mean age of 18 years after treatment was investigated. The relationship between acetabular dysplasia and hip discomfort has also been poorly established.

A longitudinal study of facial asymmetry in a normal birth cohort up to 6 years of age and the predisposing factors.

Objectives: This prospective, population-based cohort study aimed to investigate the development of facial asymmetry up to 6 years of age using a three-dimensional (3D) soft tissue imaging method in a normal population. In addition, the study sought to identify potential predisposing factors to facial asymmetry.

Methods: A total of 102 newborns were enrolled in the study at birth.

Corrigendum: Optimized riboswitch-regulated AAV vector for VEGF-B gene therapy.

[This corrects the article DOI: 10.3389/fmed.2022.

Optical Genome Mapping as an Alternative to FISH-Based Cytogenetic Assessment in Chronic Lymphocytic Leukemia.

The fluorescence in situ hybridization (FISH) technique plays an important role in the risk stratification and clinical management of patients with chronic lymphocytic leukemia (CLL). For genome-wide analysis, FISH needs to be complemented with other cytogenetic methods, including karyotyping and/or chromosomal microarrays. However, this is often not feasible in a diagnostic setup.

Bilateral Motor Responses to Transcranial Magnetic Stimulation in Preterm Children at 9 Years of Age.

Objective: This study was aimed to evaluate motor tracts integrity in nondisabled preterm-born (PT) children at 9 years of age.

Methods: Overall, 18 PT and 13 term-born (T) children without motor disability were assessed by transcranial magnetic stimulation (TMS). Motor-evoked potentials (MEPs) were measured bilaterally from the abductor pollicis brevis (APB) and the tibialis anterior (TA) muscles.

Development of Large-Scale Downstream Processing for Lentiviral Vectors.

The interest in lentiviral vectors (LVs) has increased prominently for gene therapy applications, but few have reached the later stages of clinical trials. The main challenge has remained in scaling up the manufacturing process for the fragile vector to obtain high titers for usage. We have previously scaled up the LV production to iCELLis 500, being able to produce up to 180 L of harvest material in one run with perfusion.

Craniofacial Asymmetry from One to Three Years of Age: A Prospective Cohort Study with 3D Imaging.

Deformational plagiocephaly (DP) is considered a risk factor for facial asymmetry. This cohort-based, prospective, follow-up study used three-dimensional (3D) stereophotogrammetry to assess the development of facial asymmetry in a normal birth cohort and to investigate the impact of DP on facial asymmetry for the age range of one to three years. The study sample consisted of 75 children: 35 girls (47%) and 40 (53%) boys recruited from Oulu University Hospital.

Plagiocephaly after Neonatal Developmental Dysplasia of the Hip at School Age.

Developmental dysplasia of the hip (DDH) may require early abduction treatment with infants sleeping on their back for the first few months of life. As sleeping on back is known to cause deformational plagiocephaly, we assessed school age children treated for dislocation or subluxation of the hip-joint in infancy. Plagiocephaly was analyzed by using cephalic index (CI) and oblique cranial length ratio (OCLR) as anthropometric measurements from 2D digital vertex view photographs.

Preclinical Proof-of-Concept, Analytical Development, and Commercial Scale Production of Lentiviral Vector in Adherent Cells.

The therapeutic efficacy of a lentiviral vector (LV) expressing the thymidine kinase (HSV-TK) was studied in an immunocompetent rat glioblastoma model. Intraperitoneal ganciclovir injections (50 mg/kg/day) were administered for 14 consecutive days, resulting in reduced tumor volumes as monitored by MRI. Survival analyses revealed a significant improvement among the LV-expressing HSV-TK (LV-TK)/ganciclovir-treated animals when compared to non-treated control rats.

A 3D Follow-Up Study of Cranial Asymmetry from Early Infancy to Toddler Age after Preterm versus Term Birth.

Preterm infants are at higher risk for both symmetrical and asymmetrical head molding. This study involved 3D stereophotogrammetry to assess the cranial growth, molding, and incidence of deformational plagiocephaly (DP) in preterm children compared to term born children. Thirty-four preterm infants and 34 term born controls were enrolled in this study from Oulu University Hospital, Finland.

Neonatal outcomes among offspring of obese women diagnosed with gestational diabetes mellitus in early versus late pregnancy.

Background: Maternal metabolic derangements associated with early pregnancy gestational diabetes may affect the fetus differently compared with gestational diabetes diagnosed later in pregnancy. The aim of this observational study was to assess neonatal outcomes according to timing of gestational diabetes diagnosis in obese women.

Methods: Women ≥18 years of age with a pre-pregnancy body mass index ≥30 kg/m2 were grouped according to the results of a 75 g 2-h oral glucose tolerance test performed at 13.

Diet quality as assessed by the Healthy Food Intake Index and relationship with serum lipoprotein particles and serum fatty acids in pregnant women at increased risk for gestational diabetes.

The importance of overall diet in modifying circulating lipoprotein particles and fatty acids during pregnancy is unclear. We examined the relationships of diet quality as assessed by the validated Healthy Food Intake Index (HFII) with serum HDL, LDL and VLDL particle concentrations and sizes and proportions of serum fatty acids in pregnant women at high risk for gestational diabetes mellitus (GDM). Overall, 161 women with a BMI of ≥30 kg/m2 and/or a history of GDM were drawn from the Finnish Gestational Diabetes Prevention Study, which is a dietary and exercise intervention trial to prevent GDM.

Prevention of gestational diabetes with a prepregnancy lifestyle intervention - findings from a randomized controlled trial.

Purpose: Lifestyle intervention studies performed during pregnancy have shown inconsistent results in relation to prevention of gestational diabetes mellitus (GDM). Therefore, the aim of this study was to assess the effect of an intervention initiated already before pregnancy in prevention of GDM in high-risk women.

Patients And Methods: A randomized controlled trial was conducted in four Finnish maternity hospitals between the years 2008 and 2014.

Effect of a lifestyle intervention during pregnancy-findings from the Finnish gestational diabetes prevention trial (RADIEL).

Objective: To assess the effect of lifestyle counseling on perinatal outcomes among women at high risk for gestational diabetes.

Study Design: A total of 492 women with obesity and/or prior gestational diabetes were allocated to intervention (four sessions of lifestyle counseling, n = 249) or usual care (n = 243) before 20 weeks' gestation.

Result: Lifestyle indicators, gestational weight gain, or obstetric and perinatal outcomes did not differ between the two groups.

3D follow-up study of facial asymmetry after developmental dysplasia of the hip.

Objectives: To evaluate the change in facial asymmetry among subjects treated for developmental dysplasia of the hip (DDH) from childhood to adolescence.

Setting And Sample Population: A total of 39 adolescents (26 females and 13 males), born and treated for DDH during 1997-2001, participated in the first examination in 2007 (T1; at the age of 8.2) and in the follow-up in 2016 (T2; at the age of 16.

The effect of pre-pregnancy lifestyle counselling on food intakes and association between food intakes and gestational diabetes in high-risk women: results from a randomised controlled trial.

Background: Healthy diets before and during pregnancy have been suggested to reduce the risk of gestational diabetes (GDM). Several lifestyle intervention studies for pregnant women have reported dietary improvements after counselling. However, evidence concerning the effect of counselling initiated before pregnancy on diets is limited.

Effects of a Lifestyle Intervention During Pregnancy and First Postpartum Year: Findings From the RADIEL Study.

Context: Women with a history of gestational diabetes (GDM) have a sevenfold risk of developing type 2 diabetes.

Objective: To assess the effects of a lifestyle intervention during pregnancy and first postpartum year on glucose regulation, weight retention, and metabolic characteristics among women at high GDM risk.

Design: In the Finnish Gestational Diabetes Prevention study, trained study nurses provided lifestyle counseling in each trimester and 6 weeks, 6 months, and 12 months postpartum.

Optimization of lentiviral vector production for scale-up in fixed-bed bioreactor.

Lentiviral vectors (LVs) are promising tools for gene therapy. However, scaling up the production methods of LVs in order to produce high-quality vectors for clinical purposes has proven to be difficult. In this article, we present a scalable and efficient method to produce LVs with transient transfection of adherent 293T cells in a fixed-bed bioreactor.

Body size modifies the relationship between maternal serum 25-hydroxyvitamin D concentrations and gestational diabetes in high-risk women.

Obesity increases the risk of low 25-hydroxyvitamin D (25(OH)D) concentrations and gestational diabetes (GDM). We explored whether the association between GDM and change in 25(OH)D concentrations measured in the first (7-18 wk) and second (20-27 wk) trimesters of pregnancy is dependent on maternal BMI. The study was a prospective study of 219 women with BMI of ≥30 kg/m, a history of GDM, or both.

Association between diet quality measured by the Healthy Food Intake Index and later risk of gestational diabetes-a secondary analysis of the RADIEL trial.

This corrects the article DOI: 10.1038/ejcn.2016.

Accuracy of measurements used to quantify cranial asymmetry in deformational plagiocephaly.

Objective: Various measurements are used to quantify cranial asymmetry in deformational plagiocephaly (DP), but studies validating cut-off values and comparing the accuracy of such measurements are lacking. In this study, we compared the accuracy of four different measurements in classifying children with and without DP diagnosed by visual assessment, and sought to determine their optimal cut-off values.

Study Design: Two experts rated 407 3D craniofacial images of children aged between 3 and 36 months old using the Argenta classification.

Is improvement in the Healthy Food Intake Index (HFII) related to a lower risk for gestational diabetes?

The aim was to analyse whether changes in the Healthy Food Intake Index (HFII) during pregnancy are related to gestational diabetes (GDM) risk. The 251 pregnant women participating had a pre-pregnancy BMI≥30 kg/m2 and/or a history of GDM. A 75 g oral glucose tolerance test (OGTT) was performed during the first and second trimesters of pregnancy for assessment of GDM.

Association between diet quality measured by the Healthy Food Intake Index and later risk of gestational diabetes-a secondary analysis of the RADIEL trial.

The aim of this study was to find the association between adherence to the Nordic Nutrition Recommendations (NNR) and glucose metabolism. Participants were 137 pregnant obese women or women with a history of gestational diabetes (GDM) from the Finnish Gestational Diabetes Prevention Study. Adherence to the NNR was assessed by the Healthy Food Intake Index (HFII) calculated from the first trimesters' food frequency questionnaires.