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MedRxiv : the Preprint Server For... May 2023SCENTinel - a rapid, inexpensive smell test that measures odor detection, intensity, identification, and pleasantness - was developed for population-wide screening of...
SCENTinel - a rapid, inexpensive smell test that measures odor detection, intensity, identification, and pleasantness - was developed for population-wide screening of smell function. SCENTinel was previously found to screen for multiple types of smell disorders. However, the effect of genetic variability on SCENTinel test performance is unknown, which could affect the test's validity. This study assessed performance of SCENTinel in a large group of individuals with a normal sense of smell to determine the test-retest reliability and the heritability of SCENTinel test performance. One thousand participants (36 [IQR 26-52] years old, 72% female, 80% white) completed a SCENTinel test at the 2021 and 2022 Twins Days Festivals in Twinsburg, OH, and 118 of those completed a SCENTinel test on each of the festival's two days. Participants comprised 55% percent monozygotic twins, 13% dizygotic twins, 0.4% triplets, and 36% singletons. We found that 97% of participants passed the SCENTinel test. Test-retest reliability ranged from 0.57 to 0.71 for SCENTinel subtests. Broad-sense heritability, based on 246 monozygotic and 62 dizygotic twin dyads, was low for odor intensity (r=0.03) and moderate for odor pleasantness (r=0.4). Together, this study suggests that SCENTinel is a reliable smell test with only moderate heritability effects, which further supports its utility for population-wide screening for smell function.
PubMed: 37293001
DOI: 10.1101/2023.05.14.23289965 -
Infection and Drug Resistance 2023Late-onset meningitis infected by group B (GBS) continues to be a major cause of perinatal mortality, morbidity and long-term neurodevelopmental sequelae despite the...
BACKGROUND
Late-onset meningitis infected by group B (GBS) continues to be a major cause of perinatal mortality, morbidity and long-term neurodevelopmental sequelae despite the implementation of universal screening, but its risk factors are not fully understood.
CASE PRESENTATION
We reported a set of dizygotic twins and a pair of compatriot siblings diagnosed with late-onset GBS meningitis aggregating in two Chinese families. All of GBS strains were identified as serotype III CC17 with high homology between the strains within the same family, and the isolates from the compatriots identical to their mother's carriage. The siblings in the two families presented clinical signs several days after close contact with their index cases having a fever at home, and obtained prompt diagnosis and anti-infective therapy. The two index patients had obvious brain damage before effective treatment and severe sequelae compared to their siblings with complete healing.
CONCLUSION
The dramatic difference in outcomes between the index cases and their siblings brings attention to prevent and control familial aggregation of neonatal late-onset GBS infection which never reported in China.
PubMed: 37283938
DOI: 10.2147/IDR.S401545 -
BMC Ophthalmology Jun 2023The present study was aimed to compare the epidemiological and ocular findings of twin children in comparison with non- twin age matched individuals as their control.
PURPOSE
The present study was aimed to compare the epidemiological and ocular findings of twin children in comparison with non- twin age matched individuals as their control.
METHODS
In this cross sectional study, a total of 90 twins (180 cases) were compared with 182 non- twin matched children. All the study participants were examined by a comprehensive ophthalmic examination including measurement of the best corrected visual acuity (BCVA), cycloplegic refraction, ocular deviation, strabismus as well as the anterior and posterior ophthalmic examinations. Demographic information of children were collected by using an organized questionnaire. Monozygotic twins were considered if there were similarity of their phenotypic characteristics and gender, otherwise the twins were considered as dizygotic.
RESULTS
The mirror- image twins (MIT) was defined according to the laterality of symmetrical ocular characteristics of twins. In this study, the mean age of the study participants was 7.08±4.42 and 7.58±3.99 years in twins and non-twins groups, respectively (P=0.253). Among the twins, 27 (30%) were monozygotic. Refractive form of MIT was seen in 5 twins (2.8%). The spherical refractive error was more hyperopic in twins compared to non- twins (P=0.041). BCVA in the twin group (0.07±0.16LogMAR) was significantly worse than non-twins (0.03±0.08LogMAR, P < 0.001) and higher percentage of them were amblyopic (37.2% versus 10.4%, P=0.005). Twin and controls had strabismus in 17.2% and 1.6%, respectively (P < 0.001). Regarding the comparison between mono- and dizygotic twins, more significant percentage of monozygotic twins had amblyopia (P=0.004) and strabismus (P=0.047). Multivariate analysis showed significant correlation among low gestational age and female gender, low birth weight and seizure.
CONCLUSION
Female sex, less gestational age, low birth weight, amblyopia and strabismus were significantly higher in twins. Therefore, it is important to check their refractive error, amblyopia and strabismus to prevent their further complications.
Topics: Child; Child, Preschool; Female; Humans; Amblyopia; Cross-Sectional Studies; Epidemiologic Factors; Refractive Errors; Strabismus; Twins, Monozygotic; Visual Acuity; Male
PubMed: 37264366
DOI: 10.1186/s12886-023-02983-5 -
Archives of Endocrinology and Metabolism May 2023Here, we report the clinical observations of two Chinese fraternal twins who presented with severe dehydration, poor feeding, and absence of stimuli responses within a... (Review)
Review
Here, we report the clinical observations of two Chinese fraternal twins who presented with severe dehydration, poor feeding, and absence of stimuli responses within a few days of birth. Trio clinical exome sequencing of the family identified compound heterozygous intronic variants (c.1439+1G>C and c.875+1G>A ) in gene in these two patients. Sanger sequencing results showed that the c.1439+1G>C variant was inherited from the mother, and c.875+1G>A from the father, rarely reported in pseudohypoaldosteronism type 1 with sodium epithelial channel destruction (PHA1b) patients. Case 2 received timely symptomatic treatment and management after obtaining these results, which improved the clinical crisis. Our results suggest that the compound heterozygous splicing variants in were responsible for PHA1b in these Chinese fraternal twins. This finding extends the knowledge of the variant spectrum in PHA1b patients and highlights the application of exome sequencing in critically ill newborns. Finally, we discuss supportive case management, particularly in maintaining blood potassium concentration.
Topics: Humans; Infant, Newborn; East Asian People; Mutation; Pseudohypoaldosteronism; Twins, Dizygotic
PubMed: 37252702
DOI: 10.20945/2359-3997000000620 -
Nutrients May 2023The dysfunction of energy metabolism in white adipose tissue (WAT) induces adiposity. Obesogenic diets that are high in saturated fat disturb nutrient metabolism in...
An Isocaloric High-Fat Diet Regulates Partially Genetically Determined Fatty Acid and Carbohydrate Uptake and Metabolism in Subcutaneous Adipose Tissue of Lean Adult Twins.
BACKGROUND
The dysfunction of energy metabolism in white adipose tissue (WAT) induces adiposity. Obesogenic diets that are high in saturated fat disturb nutrient metabolism in adipocytes. This study investigated the effect of an isocaloric high-fat diet without the confounding effects of weight gain on the gene expression of fatty acid and carbohydrate transport and metabolism and its genetic inheritance in subcutaneous (s.c.) WAT of healthy human twins.
METHODS
Forty-six healthy pairs of twins (34 monozygotic, 12 dizygotic) received an isocaloric carbohydrate-rich diet (55% carbohydrates, 30% fat, 15% protein; LF) for 6 weeks followed by an isocaloric diet rich in saturated fat (40% carbohydrates, 45% fat, 15% protein; HF) for another 6 weeks.
RESULTS
Gene expression analysis of s.c. WAT revealed that fatty acid transport was reduced after one week of the HF diet, which persisted throughout the study and was not inherited, whereas intracellular metabolism was decreased after six weeks and inherited. An increased inherited gene expression of fructose transport was observed after one and six weeks, potentially leading to increased de novo lipogenesis.
CONCLUSION
An isocaloric dietary increase of fat induced a tightly orchestrated, partially inherited network of genes responsible for fatty acid and carbohydrate transport and metabolism in human s.c. WAT.
Topics: Adult; Humans; Adipose Tissue; Diet, High-Fat; Dietary Carbohydrates; Dietary Fats; Fatty Acids; Subcutaneous Fat
PubMed: 37242220
DOI: 10.3390/nu15102338 -
Journal of Personalized Medicine Apr 2023Several epidemiological studies have demonstrated that genetic and environmental factors contribute to the development of allergic diseases. However, there is limited...
Several epidemiological studies have demonstrated that genetic and environmental factors contribute to the development of allergic diseases. However, there is limited information on these factors in the Korean population. This study investigated the importance of genetic and environmental factors in allergic diseases, such as allergic rhinitis, asthma, allergic conjunctivitis, or atopic dermatitis, by comparing the disease incidence in Korean adult monozygotic and dizygotic twins. This cross-sectional study utilized data from 1296 twin pairs, including 1052 monozygotic and 244 dizygotic twins, aged over 20 years, from the Korean Genome and Epidemiology Study (2005-2014). The study utilized binomial and multinomial logistic regression models to compute odds ratios of disease concordance. The concordance rate (92%) of the presence or absence of atopic dermatitis in monozygotic twins was slightly higher than that in dizygotic twins (90.2%), which only had a borderline significance ( = 0.090). The concordance rates of other allergic diseases within monozygotic twins were lower compared to dizygotic twins (asthma, 94.3% vs. 95.1%; allergic rhinitis, 77.5% vs. 78.7%; allergic conjunctivitis, 90.6% vs. 91.8%), of which the differences were not statistically significant. Monozygotic twins had a higher proportion of cases in which both siblings had allergic diseases than dizygotic twins (asthma, 1.1% vs. 0.0%; allergic rhinitis, 6.7% vs. 3.3%; atopic dermatitis, 2.9% vs. 0.0%; allergic conjunctivitis, 1.5% vs. 0.0%), of which the differences were also not statistically significant. In conclusion, our results appear to indicate the relative importance of environmental factors over genetic factor in the development of allergic diseases in Korean adult monozygotic twins.
PubMed: 37240891
DOI: 10.3390/jpm13050721 -
Journal of Bone and Mineral Research :... Jul 2023The reasons for the association between physical activity (PA) and bone microarchitecture traits are unclear. We examined whether these associations were consistent with...
The reasons for the association between physical activity (PA) and bone microarchitecture traits are unclear. We examined whether these associations were consistent with causation and/or with shared familial factors using a cross-sectional study of 47 dizygotic and 93 monozygotic female twin pairs aged 31-77 years. Images of the nondominant distal tibia were obtained using high-resolutionperipheral quantitative computed tomography. The bone microarchitecture was assessed using StrAx1.0 software. Based on a self-completed questionnaire, a PA index was calculated as a weighted sum of weekly hours of light (walking, light gardening), moderate (social tennis, golf, hiking), and vigorous activity (competitive active sports) = light + 2 * moderate + 3 * vigorous. We applied Inference about Causation through Examination of FAmiliaL CONfounding (ICE FALCON) to test whether cross-pair cross-trait associations changed after adjustment for within-individual associations. Within-individual distal tibia cortical cross-sectional area (CSA) and cortical thickness were positively associated with PA (regression coefficients [β] = 0.20 and 0.22), while the porosity of the inner transitional zone was negatively associated with PA (β = -0.17), all p < 0.05. Trabecular volumetric bone mineral density (vBMD) and trabecular thickness were positively associated with PA (β = 0.13 and 0.14), and medullary CSA was negatively associated with PA (β = -0.22), all p ≤ 0.01. Cross-pair cross-trait associations of cortical thickness, cortical CSA, and medullary CSA with PA attenuated after adjustment for the within-individual association (p = 0.048, p = 0.062, and p = 0.028 for changes). In conclusion, increasing PA was associated with thicker cortices, larger cortical area, lower porosity of the inner transitional zone, thicker trabeculae, and smaller medullary cavities. The attenuation of cross-pair cross-trait associations after accounting for the within-individual associations was consistent with PA having a causal effect on the improved cortical and trabecular microarchitecture of adult females, in addition to shared familial factors. © 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Topics: Female; Humans; Absorptiometry, Photon; Bone and Bones; Bone Density; Cross-Sectional Studies; Exercise; Radius; Tibia; Adult; Middle Aged; Aged
PubMed: 37198881
DOI: 10.1002/jbmr.4826 -
Intelligence 2022Most research on individual differences in performance on tests of cognitive ability focuses on general cognitive ability (g), the highest level in the three-level...
Most research on individual differences in performance on tests of cognitive ability focuses on general cognitive ability (g), the highest level in the three-level Cattell-Horn-Carroll (CHC) hierarchical model of intelligence. About 50% of the variance of g is due to inherited DNA differences (heritability) which increases across development. Much less is known about the genetics of the middle level of the CHC model, which includes 16 broad factors such as fluid reasoning, processing speed, and quantitative knowledge. We provide a meta-analytic review of 747,567 monozygotic-dizygotic twin comparisons from 77 publications for these middle-level factors, which we refer to as specific cognitive abilities (SCA), even though these factors are not independent of g. Twin comparisons were available for 11 of the 16 CHC domains. The average heritability across all SCA is 56%, similar to that of g. However, there is substantial differential heritability across SCA and SCA do not show the developmental increase in heritability seen for g. We also investigated SCA independent of g (SCA.g). A surprising finding is that SCA.g remain substantially heritable (53% on average), even though 25% of the variance of SCA that covaries with g has been removed. Our review highlights the need for more research on SCA and especially on SCA.g. Despite limitations of SCA research, our review frames expectations for genomic research that will use polygenic scores to predict SCA and SCA.g. Genome-wide association studies of SCA.g are needed to create polygenic scores that can predict SCA profiles of cognitive abilities and disabilities independent of g.
PubMed: 37197611
DOI: 10.1016/j.intell.2022.101689 -
Children (Basel, Switzerland) Apr 2023The timing of primary tooth eruption is critical for children's health planning and the diagnosis of specific growth disorders. The purpose of this study is to assess...
The timing of primary tooth eruption is critical for children's health planning and the diagnosis of specific growth disorders. The purpose of this study is to assess the relationship between twin pairs' birth weight, gestational age, and gender, which are indicators of prenatal factors; breast-feeding duration, which is an indicator of postnatal factors; type of delivery, which is an indicator of maternal as well as genetic factors; and age of the primary tooth. Twin children aged from 3 to 15 years who applied to the clinic for the first dental examination constituted the sample group. In this twin study, 59 monozygotic (MZ) twin pairs and 143 dizygotic (DZ) twin pairs were included. Genetic (MZ vs. DZ), maternal (type of delivery, gestational age), perinatal (birth weight, gender), and postnatal (duration of breastfeeding) information was obtained, and effects on the children's Eruption Timing of the First Primary Tooth (ETFPT) were examined. Statistical analysis was performed using the consistent partial least squares structural equation model (robust PLSc) technique. As birth weight increased, the age at first eruption became younger, but this change was different between MZ and DZ twins ( < 0.05). While the age at first tooth eruption was older in identical twins who were breastfed for the first 6 months, this increase was not observed in DZ twins. The mean of ETFPT was calculated as 7.31 months in MZ twins and 6.75 months in DZ twins. The effect of breastfeeding and birth weight on ETFPT may differ according to zygosity in twins. MZ twins may tend to take longer to experience the eruption of their first primary teeth.
PubMed: 37189932
DOI: 10.3390/children10040683 -
BMC Pregnancy and Childbirth May 2023This review aimed to identify guidelines with recommendations applicable to the antenatal management of dichorionic diamniotic twin pregnancies within high-income...
OBJECTIVE
This review aimed to identify guidelines with recommendations applicable to the antenatal management of dichorionic diamniotic twin pregnancies within high-income countries, appraise their methodological quality, and discuss the similarities and variability across guidelines.
METHOD
A systematic literature review of electronic databases was performed. Manual searches of guideline repositories and websites of professional organisations were performed to identify additional guidelines. The protocol for this systematic review was registered on PROSPERO (CRD42021248586, 25 June 2021). AGREE II and AGREE-REX tools were applied to assess the quality of eligible guidelines. A narrative and thematic synthesis described and compared the guidelines and their recommendations.
RESULTS
Twenty-four guidelines were included, from which 483 recommendations were identified across 4 international organisations and 12 countries. Guidelines addressed eight themes and recommendations were classified accordingly: chorionicity and dating (103 recommendations), fetal growth (105 recommendations), termination of pregnancy (12 recommendations), fetal death (13 recommendations), fetal anomalies (65 recommendations), antenatal care (65 recommendations), preterm labour (56 recommendations) and birth (54 recommendations). Guidelines showed significant variability in recommendations, with conflicting recommendations regarding non-invasive preterm testing, definitions surrounding selective fetal growth restriction, screening for preterm labour and the timing of birth. Guidelines lacked a focus on standard antenatal management of DCDA twins, management of discordant fetal anomaly and single fetal demise.
CONCLUSIONS
Specific guidance for dichorionic diamniotic twins is overall indistinct and access to guidance regarding the antenatal management of these pregnancies is currently difficult. Management of discordant fetal anomaly or single fetal demise needs greater consideration.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Pregnancy, Twin; Pregnancy Outcome; Fetal Death; Twins, Dizygotic; Obstetric Labor, Premature; Retrospective Studies
PubMed: 37179347
DOI: 10.1186/s12884-023-05652-z