Fetal Valproate Syndrome: Clinical and Neuro-developmental Features in Two Sibling Pairs

2008 ◽  
Vol 36 (4) ◽  
pp. 361-369 ◽  
Author(s):  
Arnold L. Christianson ◽  
Nicole Chester ◽  
Jennifer G. R. Kromberg
Keyword(s):  
Sibling Pairs ◽  
Fetal Valproate Syndrome ◽  
Developmental Features

Parental origin of diabetes-associated HLA types in sibling pairs with type I diabetes

Diabetes ◽  
1994 ◽  
Vol 43 (12) ◽  
pp. 1462-1468 ◽  
Author(s):  
S. C. Bain ◽  
B. R. Rowe ◽  
A. H. Barnett ◽  
J. A. Todd
Keyword(s):  
Type I Diabetes ◽  
Parental Origin ◽  
Type I ◽  
Sibling Pairs

Sibling Alcohol Use Disorder Is Associated With Increased Risk for Suicide Attempt

2021 ◽  
pp. 216770262110250
Author(s):  
Mallory E. Stephenson ◽  
Sara Larsson Lönn ◽  
Jessica E. Salvatore ◽  
Jan Sundquist ◽  
Kenneth S. Kendler ◽  
...  
Keyword(s):  
Alcohol Use ◽  
Suicide Attempt ◽  
Alcohol Use Disorder ◽  
Cox Regression ◽  
Population Based ◽  
Swedish Population ◽  
Sibling Pairs ◽  
Increased Risk ◽  
Using Data ◽  
Shared Genetic

The association between having a sibling diagnosed with alcohol use disorder (AUD) and risk for suicide attempt may be attributable to shared genetic liability between AUD and suicidal behavior, effects of environmental exposure to a sibling’s AUD, or both. To distinguish between these alternatives, we conducted a series of Cox regression models using data derived from Swedish population-based registers with national coverage. Among full sibling pairs (656,807 males and 607,096 females), we found that, even after we accounted for the proband’s AUD status, the proband’s risk for suicide attempt was significantly elevated when the proband’s sibling was affected by AUD. Furthermore, the proband’s risk for suicide attempt was consistently higher when the sibling’s AUD registration had occurred more recently. Our findings provide evidence for exposure to sibling AUD as an environmental risk factor for suicide attempt and suggest that clinical outreach may be warranted following a sibling’s diagnosis with AUD.

scholarly journals Development of the mouse anterior amygdalar radial unit marked by Lhx9-expression

2021 ◽  
Vol 226 (2) ◽  
pp. 575-600 ◽  
Author(s):  
Elena Garcia-Calero ◽  
Luis Puelles
Keyword(s):  
Emotional Processing ◽  
Molecular Profile ◽  
Ring Model ◽  
Radial Model ◽  
Developmental Features ◽  
Anterior Posterior

AbstractThe amygdala in mammals plays a key role in emotional processing and learning, being subdivided in pallial and subpallial derivatives. Recently, the cortical ring model and the pallial amygdalar radial model (Puelles et al. 2019; Garcia-Calero et al. 2020) described the pallial amygdala as an histogenetic field external to the allocortical ring, and subdivided it in five major radial domains called lateral, basal, anterior, posterior and retroendopiriform units. The anterior radial unit, whose cells typically express the Lhx9 gene (see molecular profile in Garcia-Calero et al. 2020), is located next to the pallial/subpallial boundary. This radial domain shows massive radial translocation and accumulation of its derivatives into its intermediate and superficial strata, with only a glial palisade representing its final periventricular domain. To better understand the development of this singular radial domain, not described previously, we followed the expression of Lhx9 during mouse amygdalar development in the context of the postulated radial subdivisions of the pallial amygdala and other telencephalic developmental features.

scholarly journals Selenium deficiency induces spleen pathological changes in pigs by decreasing selenoprotein expression, evoking oxidative stress, and activating inflammation and apoptosis

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Shuang Li ◽  
Wenjuan Sun ◽  
Kai Zhang ◽  
Jiawei Zhu ◽  
Xueting Jia ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Inflammatory Cytokines ◽  
The Body ◽  
Terminal Deoxynucleotidyl Transferase ◽  
Antioxidant Systems ◽  
Tunel Staining ◽  
White Pulp ◽  
Sibling Pairs ◽  
Se Deficiency ◽  
Spleen Index

Abstract Background The immune system is one aspect of health that is affected by dietary selenium (Se) levels and selenoprotein expression. Spleen is an important immune organ of the body, which is directly involved in cellular immunity. However, there are limited reports on Se levels and spleen health. Therefore, this study established a Se-deficient pig model to investigate the mechanism of Se deficiency-induced splenic pathogenesis. Methods Twenty-four pure line castrated male Yorkshire pigs (45 days old, 12.50 ± 1.32 kg, 12 full-sibling pairs) were divided into two equal groups and fed Se-deficient diet (0.007 mg Se/kg) or Se-adequate diet (0.3 mg Se/kg) for 16 weeks. At the end of the trial, blood and spleen were collected to assay for erythroid parameters, the osmotic fragility of erythrocytes, the spleen index, histology, terminal deoxynucleotidyl transferase nick-end labeling (TUNEL) staining, Se concentrations, the selenogenome, redox status, and signaling related inflammation and apoptosis. Results Dietary Se deficiency decreased the erythroid parameters and increased the number of osmotically fragile erythrocytes (P < 0.05). The spleen index did not change, but hematoxylin and eosin and TUNEL staining indicated that the white pulp decreased, the red pulp increased, and splenocyte apoptosis occurred in the Se deficient group. Se deficiency decreased the Se concentration and selenoprotein expression in the spleen (P < 0.05), blocked the glutathione and thioredoxin antioxidant systems, and led to redox imbalance. Se deficiency activated the NF-κB and HIF-1α transcription factors, thus increasing pro-inflammatory cytokines (IL-1β, IL-6, IL-8, IL-17, and TNF-α), decreasing anti-inflammatory cytokines (IL-10, IL-13, and TGF-β) and increasing expression of the downstream genes COX-2 and iNOS (P < 0.05), which in turn induced inflammation. In addition, Se-deficiency induced apoptosis through the mitochondrial pathway, upregulated apoptotic genes (Caspase3, Caspase8, and Bak), and downregulated antiapoptotic genes (Bcl-2) (P < 0.05) at the mRNA level, thus verifying the results of TUNEL staining. Conclusions These results indicated that Se deficiency induces spleen injury through the regulation of selenoproteins, oxidative stress, inflammation and apoptosis.

scholarly journals Developmental features and predicting airway failure risk in critically ill children with mandibular hypoplasia using 3D computational tomographic analysis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Doo-Hwan Kim ◽  
Eunseo Gwon ◽  
Junheok Ock ◽  
Jong-Woo Choi ◽  
Jee Ho Lee ◽  
...  
Keyword(s):  
Risk Factors ◽  
Difficult Airway ◽  
Hyoid Bone ◽  
Three Dimensional ◽  
Upper Airway ◽  
Critically Ill Children ◽  
Healthy Controls ◽  
Mandibular Hypoplasia ◽  
Tongue Position ◽  
Developmental Features

AbstractIn children with mandibular hypoplasia, airway management is challenging. However, detailed cephalometric assessment data for this population are sparse. The aim of this study was to find risk factors for predicting difficult airways in children with mandibular hypoplasia, and compare upper airway anatomical differences using three-dimensional computed tomography (3D CT) between children with mandibular hypoplasia and demographically matched healthy controls. There were significant discrepancies in relative tongue position (P < 0.01) and anterior distance of the hyoid bone (P < 0.01) between patients with mandibular hypoplasia and healthy controls. All mandibular measures were significantly different between the two groups, except for the height of the ramus of the mandible. After adjusting for age and sex, the anterior distance of hyoid bone and inferior pogonial angle were significantly associated with a difficult airway (P = 0.01 and P = 0.02). Quantitative analysis of upper airway structures revealed significant discrepancies, including relative tongue position, hyoid distance, and mandible measures between patients with mandibular hypoplasia and healthy controls. The anterior distance of the hyoid bone and inferior pogonial angle may be risk factors for a difficult airway in patients with mandibular hypoplasia.

scholarly journals Unusual phenotypes in patients with a pathogenic germline variant in DICER1

2021 ◽  
Author(s):  
Kateryna Venger ◽  
Miriam Elbracht ◽  
Julia Carlens ◽  
Peter Deutz ◽  
Felix Zeppernick ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Pleuropulmonary Blastoma ◽  
Global Developmental Delay ◽  
Facial Dysmorphism ◽  
Compound Heterozygous ◽  
Incomplete Penetrance ◽  
Developmental Abnormalities ◽  
Lung Cysts ◽  
Developmental Features ◽  
Skeletal Findings

AbstractPathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms’ tumor) syndrome. Here, we report four families with germline DICER1 pathogenic variants in which one member in each family had a more complex phenotype, including skeletal findings, facial dysmorphism and developmental abnormalities. The developmental features occur with a variable expressivity and incomplete penetrance as also described for the neoplastic and dysplastic lesions associated with DICER1 variants. Whole exome sequencing (WES) was performed on all four cases and revealed no further pathogenic or likely pathogenic dominant, homozygous or compound heterozygous variants in three of them. Notably, a frameshift variant in ARID1B was detected in one patient explaining part of her phenotype. This series of patients shows that pathogenic DICER1 variants may be associated with a broader phenotypic spectrum than initially assumed, including predisposition to different tumours, skeletal findings, dysmorphism and developmental abnormalities, but genetic work up in syndromic patients should be comprehensive in order not to miss additional underlying /modifying causes.

Vocabulary competence in first- and secondborn siblings of the same chronological age

2004 ◽  
Vol 31 (4) ◽  
pp. 855-873 ◽  
Author(s):  
MARC H. BORNSTEIN ◽  
DIANE B. LEACH ◽  
O. MAURICE HAYNES
Keyword(s):  
Gender Composition ◽  
Chronological Age ◽  
Age Difference ◽  
Sibling Pairs ◽  
Multiple Measures ◽  
Maternal Report ◽  
Child Speech ◽  
Maternal Reports ◽  
Assessment Measures

We explored vocabulary competence in 55 firstborn and secondborn sibling pairs when each child reached 1;8 using multiple measures of maternal report, child speech, and experimenter assessment. Measures from each of the three sources were interrelated. Firstborns' vocabulary competence exceeded secondborns' only in maternal reports, not in child speech or in experimenter assessments. Firstborn girls outperformed boys on all vocabulary competence measures, and secondborn girls outperformed boys on most measures. Vocabulary competence was independent of the gender composition and, generally, of the age difference in sibling pairs. Vocabulary competence in firstborns and secondborns was only weakly related.

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