Non-identical Twins Research Articles

Exploring associations between ADHD symptoms and emotional problems from childhood to adulthood: shared aetiology or possible causal relationship?

Abstract Background ADHD symptoms are associated with emotional problems such as depressive and anxiety symptoms from early childhood to adulthood, with the association increasing with age. A shared aetiology and/or a causal relationship could explain their correlation. In the current study, we explore these explanations for the association between ADHD symptoms and emotional problems from childhood to adulthood. Methods Data were drawn from the Twins Early Development Study (TEDS), including 3675 identical and 7063 non-identical twin pairs. ADHD symptoms and emotional symptoms were reported by parents from childhood to adulthood. Self-report scales were included from early adolescence. Five direction of causation (DoC) twin models were fitted to distinguish whether associations were better explained by shared aetiology and/or causal relationships in early childhood, mid-childhood, early adolescence, late adolescence, and early adulthood. Follow-up analyses explored associations for the two subdomains of ADHD symptoms, hyperactivity-impulsivity and inattention, separately. Results The association between ADHD symptoms and emotional problems increased in magnitude from early childhood to adulthood. In the best-fitting models, positive genetic overlap played an important role in this association at all stages. A negative causal effect running from ADHD symptoms to emotional problems was also detected in early childhood and mid-childhood. When distinguishing ADHD subdomains, the apparent protective effect of ADHD symptoms on emotional problems in childhood was mostly driven by hyperactivity-impulsivity. Conclusions Genetic overlap plays an important role in the association between ADHD symptoms and emotional problems. Hyperactivity-impulsivity may protect children from emotional problems in childhood, but this protective effect diminishes after adolescence.

Efficiency of friction versus frictionless mechanics for correcting bimaxillary dentoalveolar protrusion in dizygotic twins – A case report

The purpose of this case presentation is to determine the efficiency of two treatment mechanics in correcting clinically comparable malocclusion in dizygotic twins. The case report describes the orthodontic management of 19-year-old non-identical twins diagnosed with bimaxillary dentoalveolar protrusion on a Class I skeletal base with severe crowding using two different treatment mechanics. The first patient was treated with frictionless mechanics by making use of Kalra simultaneous intrusion and retraction arch for space closure, whereas the friction mechanics accomplished the task in the second patient with mini-implant (Titanium mini-implant, FavAnchor™ SAS, Favorite supplies, Thane west, Maharashtra, India) assisted power arm (Power hook, Azdent Orthodontics, Zhengzhou, China) retraction. It evaluated the overall treatment duration, anterior torque control, and level of comfort for the patients with the two mechanics. The post-treatment results in both cases exhibited remarkable change in inclination of upper anterior teeth which were established through cephalometric findings. Moreover, the anterior torque control was comparatively superior with loop mechanics over mini-implant assisted sliding mechanics. Both the treatment mechanics effectively and efficiently corrected the malocclusion with considerable impact on soft-tissue profile.

Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene

Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The “centrosomal protein 19 (CEP19)” gene encodes for a centrosomal and ciliary protein. Homozygous variants in the CEP19 gene are extremely rare causes of early-onset severe monogenic obesity. Herein, we present a Turkish family with early-onset severe obesity with variable features. Methods: Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family. Results: The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m²), metabolic syndrome, and diabetic ketoacidosis. Her nonidentical twin female siblings also had early-onset severe obesity, metabolic syndrome, and diabetes. In addition, one of the affected siblings had situs inversus abdominalis, polysplenia, lumbar vertebral fusion, and abnormal lateralization. A novel homozygous nonsense (c.169C>T, p. Arg57*) pathogenic variant was detected in exon 3 of the CEP19 gene in all affected members of the family. One unaffected sister and unaffected parents were heterozygous for the variant. This variant is predicted to cause a stop codon at amino acid sequence 57, leading to a truncated CEP19 protein. Discussion/Conclusion: Our study expands the phenotypical manifestations and variation database of CEP19 variants. The findings in one of our patients reaffirm its role in the assembly and function of both motile and immotile cilia.

Truth and Reconciliation in Charleston, SC—Slavery Central

As a tourist destination dependent on its reputation for elegant architecture, fine dining, and good manners, Charleston, South Carolina regularly tops industry journal lists of “Best Cities” to visit both in the United States and internationally. The city’s place in atlases of world history is assured, however, not by virtue of its architecture, cuisine, or politeness but because it was the single most important port in continental North America for the importation of enslaved Africans. The paradoxical coexistence of these two factors illustrates Simon Gikandi’s thesis in Slavery and the Culture of Taste that “the institution of slavery and the culture of taste were fundamental in the shaping of modern identity, and that they did so not apart but as nonidentical twins.” Charleston’s recent—belated—attempts to address the racial violence that underlies the surface are confronted by another, closely associated paradox: that politeness can be its own form of violence. Current legislative moves to limit or flat-out outlaw teaching about race exemplify the kind of “authoritative discourse” that Pierre Bourdieu describes as “condemn[ing] the occupants of dominated positions either to silence or to shocking outspokenness” (191). This essay assesses work by three Black writers—Marcus Amaker, Kwame Dawes, and Nikky Finney—who, in writing about Charleston and South Carolina, have had to find ways to wrestle with the problem of how to make their voices heard without being dismissed as shockingly outspoken.

Citrullinemia and What Else?

Citrullinemia type I (CTLN1) is a rare autosomal recessive metabolic disorder. Symptoms typically include vomiting, lethargy, seizures and coma. In neonatal presentation, death occurs in days if untreated. Survivors may evolve with neurocognitive dysfunction. Two 10 years old, non-identical, twin sisters (S1; S2) with CTLN1 were born after a 36W gestation: S1 by eutocic delivery and S2 by cesarean section with nuchal cord (Apgar score 5/10). On day four, S2 presented hyperammonemia with coma. S1 had no complications. Diagnosis followed that of S2. Neurocognitive development was monitored at 3 months - 4 years of age with Griffiths Scales: global development quotient kept within the average, but S2 had a deficit in language and eye and hand coordination. At 5 years, the neurocognitive abilities were evaluated using Wechsler Preschool and Primary Scale of Intelligence - Revised (WPPSI-R). S2 revealed difficulties in verbal area (vocabulary, comprehension and memorizing sentences), with a lower average verbal intelligence quotient (IQ). S1 had high average IQ. Due to learning difficulties, S2 was reassessment at 8 years old with Wechsler Intelligence Scale for Children - Third edition (WISC-III): full-scale IQ -"extremely low". These non-identical twin sisters share the same citrullinemia type 1 causing variants in the ASS1 gene. Nevertheless, their clinical presentation and neurocognitive evolution are diverse. Other factors, like the different genetic background and perinatal issues such as the type of delivery and its circumstances and the neonatal coma episode of S2 may explain the dissimilar evolution. Maximum ammonium levels (and its duration) are critical for the patients' neurodevelopment: 131 in S1 and 546 umol/l in S2.

SAT330 Recurrence of Acth Independent Cushing Syndrome In Patient With Previously Operated On For Primary Bilateral Macronodular Adrenal Hyperplasia And Co-existence Of Papillary Thyroid Carcinoma

Abstract Disclosure: N. Vashakmadze: None. D. Nikoleishvili: None. Background: Cushing syndrome is a rare and usually sporadic endocrine disorder. Herein we describe a case of ACTH-independent Cushing syndrome and ACTH-dependent Cushing disease in non-identical twins. Moreover, recurrence of Cushing syndrome after 25 years of non-complete resection of adrenal glands and co-existence of papillary thyroid cancer. Clinical Case: A 57-year woman presented with hypertension, depression, easy bruising, proximal muscle weakness, fatigue, and facial plethora. According to the patient, Cushing’s syndrome caused by bilateral macronodular adrenal hyperplasia was diagnosed in 1997. Surgical treatment - left adrenalectomy and right adrenal gland resection was performed. She was receiving HRT during the first 6 months, since then she was not receiving HRT and her cortisol was normal. It is extremely interesting that her nonidentical twin sister was diagnosed with ACTH-dependent Cushing disease in 2006 and was successfully treated with transsphenoidal surgery. In 2019 patient was diagnosed with papillary thyroid cancer (PTC), thyroidectomy was performed and multifocal PTC pT1b(m)N0M0 was diagnosed. Patient received adjuvant therapy with 80 mCi of RAI. In 2019 cortisol and ACTH levels were routinely evaluated, ACTH was undetectable <3 ng/dl (N: 7.2-63); 1 mg dexamethasone suppression test showed no suppression of cortisol 116 ng/ml (N: <1.8 ng/ml). However, patient did not consult an endocrinologist with the results of the mentioned investigations. She admitted to our clinic in December 2022 with above-mentioned complains to determine the tactics of further investigation/treatment. The data obtained during our consultation was consistent to recurrence of Cushing syndrome: midnight salivary cortisol– 0.46 mcg/dl (0.02-0.34), ACTH– 4.2 ng/l (7.2-63), 1 mg of dexamethasone suppression test – 217 nmol/l (<50). CT showed right adrenal noduls (2.5 cm and 1.2 cm). These data confirmed the diagnosis of recurrence of Cushing’s syndrome and right adrenalectomy with steroid coverage and postoperative hormone replacement therapy was recommended. Other data showed normal OGTT, moderate hypercholesterolemia, taking into account Cushing’s syndrome and smoking, statins were initiated. DXA showed osteoporosis (forearm T-score = -3.9 SD). 25(OH)D3 – 22.35 ng/ml, Ca – 1.09 mmol/l (1.1-1.3). Denosumab, calcium and vitamin D supplements were started to the patient. In addition, TSH was markedly suppressed on 125 mcg LT4 therapy, TSH – 0.005 mIU/l (0.4-3.8); Tg <0.17 g/l, anti-Tg - N and neck ultrasound was normal, that is consistent with excellent response and the target TSH was established 0.5-2.0 mIU/l. The dose of LT4 was reduced to 100 mcg. Conclusion: To our knowledge existence of Cushing syndrome and Cushing disease in non-identical twins has not been reported yet. Also, co-existence of Cushing syndrome and thyroid cancer is rare, and no connection is established yet. Presentation: Saturday, June 17, 2023

S2316 Crohn’s and Bowel Lymphoma: Non-Identical Twins?

S2316 Crohn’s and Bowel Lymphoma: Non-Identical Twins?

Genetic Ancestry Estimates within Dutch Family Units and Across Genotyping Arrays: Insights from Empirical Analysis Using Two Estimation Methods.

Accurate inference of genetic ancestry is crucial for population-based association studies, accounting for population heterogeneity and structure. This study analyzes genome-wide SNP data from the Netherlands Twin Register to compare genetic ancestry estimates. The focus is on the comparison of ancestry estimates between family members and individuals genotyped on multiple arrays (Affymetrix 6.0, Affymetrix Axiom, and Illumina GSA). Two conventional methods, principal component analysis and ADMIXTURE, were implemented to estimate ancestry, each serving its specific purpose, rather than for direct comparison. The results reveal that as the degree of genetic relatedness decreases, the Euclidean distances of genetic ancestry estimates between family members significantly increase (empirical p < 0.001), regardless of the estimation method and genotyping array. Ancestry estimates among individuals genotyped on multiple arrays also show statistically significant differences (empirical p < 0.001). Additionally, this study investigates the relationship between the ancestry estimates of non-identical twin offspring with ancestrally diverse parents and those with ancestrally similar parents. The results indicate a statistically significant weak correlation between the variation in ancestry estimates among offspring and differences in ancestry estimates among parents (Spearman's rho: 0.07, p = 0.005). This study highlights the utility of current methods in inferring genetic ancestry, emphasizing the importance of reference population composition in determining ancestry estimates.

Fulminant echovirus 11 hepatitis in male non-identical twins in northern Italy, April 2023.

Echovirus 11 (E11) has recently been associated with a series of nine neonatal cases of severe hepatitis in France. Here, we present severe hepatitis caused by E11 in a pair of twins. In one of the neonates, the clinical picture evolved to fulminant hepatitis. The E11 genome showed 99% nucleotide identity with E11 strains reported in the cases in France. Rapid genome characterisation using next generation sequencing is essential to identify new and more pathogenetic variants.

Maximizing the value of twin studies in health and behaviour.

In the classical twin design, researchers compare trait resemblance in cohorts of identical and non-identical twins to understand how genetic and environmental factors correlate with resemblance in behaviour and other phenotypes. The twin design is also a valuable tool for studying causality, intergenerational transmission, and gene-environment correlation and interaction. Here we review recent developments in twin studies, recent results from twin studies of new phenotypes and recent insights into twinning. We ask whether the results of existing twin studies are representative of the general population and of global diversity, and we conclude that stronger efforts to increase representativeness are needed. We provide an updated overview of twin concordance and discordance for major diseases and mental disorders, which conveys a crucial message: genetic influences are not as deterministic as many believe. This has important implications for public understanding of genetic risk prediction tools, as the accuracy of genetic predictions can never exceed identical twin concordance rates.

Gyermekbőrgyógyászati kutatások a szegedi Bőrgyógyászati és Allergológiai Klinikán 2004-2023 között

The authors present their most relevant clinical investigations in the field of paediatric dermatology, performed in the Department of Dermatology and Allergology, University of Szeged, between 2004-2023. In their epidemiological surveys, wide spectrum of dermatological manifestations and disorders were consecutively recorded both in healthy, mature newborn infants and in premature infants referred to the Neonatal Intensive Care Unit. Different neonatal, maternal, diagnostic and other factors behind the skin symptoms were also investigated in detail. In their twin-studies, the authors investigated the effect of neonatal blue-light phototherapy on cutaneous and uveal naevus development, and the roles of different environmental and constitutional factors on naevus formation were also analysed in identical and non-identical twin pairs. The success of the treatment of chronic dermatological diseases considerably depends on the patient’s compliance. The main objectives of their study were to investigate the therapeutic compliance of patients diagnosed with acne vulgaris, in order to explore factors behind low compliance.

Double Vision: Study of U.K. Twins Provides New Insight Into Human Wellbeing.

Back in 1992, when Prof. Tim Spector of King's College London set up a study to investigate the incidence of osteoporosis and other rheumatologic diseases in monozygotic (identical) twins, little did he know how much the project would expand its horizons. From a few hundred identical twins, the cohort has grown to more than 15,000 identical and nonidentical twins across the U.K., aged between 18 and 100, and a host of diseases and conditions are under the microscope (Figure 1). Now, TwinsUK has one of the most deeply characterized adult twin cohorts anywhere in the world, providing vast quantities of data for longitudinal studies of health and aging.

Surgery of the Soul: Reflections on a Curious Career

Surgery of the Soul: Reflections on a Curious Career

Neonatal Multisystem Inflammatory Syndrome (MIS-N): The First Case Report in Thailand

Cases of multisystem inflammatory syndrome in children (MIS-C-like disease), have rarely been reported in neonates. A 33-week gestational age twin B female neonate presented with respiratory distress, tachycardia, and abdominal distention at 15 days of age. Echocardiogram found reduced left ventricular ejection fraction to 33%. Cardiac enzyme levels were all elevated: creatine kinase-MB 6.1 ng/mL (normal 0–4.5 ng/mL), troponin-T 170 ng/L (normal &lt; 14 ng/L) and NT-proBNP &gt; 35,000 pg/mL (normal 250.0 to 3987.0 pg/mL). Multiplex PCR of nasopharyngeal swab material was negative for respiratory pathogens. Serological tests revealed negative anti-spike SARS-CoV-2 IgM but positive anti-nucleocapsid SARS-CoV-2 IgG in both the mother and the patient. The mother provided a history of COVID-19 during pregnancy at 19 weeks gestation. The patient was diagnosed with neonatal multisystem inflammatory syndrome (MIS-N) and successfully treated with intravenous immunoglobulin (two doses of 1 gm/kg/dose) and methylprednisolone (2 mg/kg/day for 5 days then tapered off). She later developed coronary vessel (LMCA and RCA) dilation. The non-identical twin A did not develop MIS-N, suggesting a role of host genetic background. Newborn infants born to SARS-CoV-2-infected mothers at any time during pregnancy should be closely monitored for MIS-N. The optimal treatment approaches to this syndrome and the prognosis require further study.

Pure biliary leak vs. pancreatic fistula associated: non-identical twins following pancreatoduodenectomy.

Biliary leak (BL) after pancreatoduodenectomy (PD) may have diffrent severity depending on its association with postoperative pancreatic fistula (POPF). Data of 2715 patients undergoing PD between 2011 and 2020 at two European third-level referral Centers for pancreatic surgery were retrospectively reviewed. These included BL incidences, grading, outcomes, specific treatments, and association with POPF. BL occurred in 6% of patients undergoing PD. Among 143 BL patients, 47% had an associated POPF and 53% a pure BL. Major morbidity (64% vs 36%) and mortality (19% vs 4%) were higher in POPF-associated BL group (allP< 0.01). Day of BL onset was similar between groups (POD 2 vs 3;P = 0.2), while BL closure occurred earlier in pure BL (POD 12 vs 23;P < 0.01). Conservative treatment was more frequent (55% vs 15%;P < 0.01), and the rate of percutaneous and/or trans-hepatic drain placement was lower (30% vs 16%;P = 0.04) in pure BL group. Relaparotomy was more common in POPF-associated BL group (42% VS 17%;P < 0.01) but was performed earlier in pure BL (POD 2 vs 10;P = 0.02). Pure BL represents a more benign entity, managed conservatively in half of the cases.

08. First recorded birth of suspected non-identical twins in the Cuban boa [Chilabothrus angulifer

08. First recorded birth of suspected non-identical twins in the Cuban boa [Chilabothrus angulifer

Nature Versus Nurture – Studying the Relationships Between Diet and Depression in Older Adults

ObjectivesPrior work suggests that higher fruit and vegetable consumption may protect against depression in older adults. By better understanding the influence of genetic and environmental factors on fruit and vegetable intakes, more effective interventions could be designed to increase intakes in older adults to reduce and/or assist with the treatment of depression in older adults. The aim of this heritability study is to estimate the genetic and environmental influences on the consumption of fruit and vegetables in older adults and to investigate if there are shared influences between fruit and vegetable intakes and depression.MethodsParticipants (n = 374 twins, 67.1% female; 208 identical; 166 non-identical, ≥ 65-years) were drawn from the Older Australian Twins Study. Data on diet (validated food frequency questionnaire) and depressive symptoms (15-item Geriatric Depression Scale) were collected. The contribution of genetic and environmental influences on fruit and vegetable intake were estimated by comparing identical and non-identical twin intakes using structural equation modelling. A trivariate model was used to estimate the genetic and environmental correlation between total fruit and vegetable intakes and depression.ResultsIn this study, vegetable intake was moderately influenced by genetics (heritability = 36%) with the remaining 64% due to the unique environment. Heritability was highest for brassica vegetables (40%), while intake of starchy vegetables was not heritable. Genetics did not significantly influence the intake of fruit. No significant genetic or environmental correlations were detected between fruit or vegetable intakes and depression. The number of participants meeting Australian Dietary Guidelines for fruit and vegetable intake was low (fruit 46.5%; vegetables 2.9%).ConclusionsConsumption of vegetables, particularly bitter tasting brassica vegetables, was significantly influenced by genetics. These findings provide novel insights into the drivers of fruit and vegetable consumption in older adults and may help shape interventions to increase intakes, with the view of reducing the burden of depression.Funding SourcesThe Older Australian Twins Study was funded by the National Health & Medical Research Council and Australian Research Council.

The long-lasting effects of thiamine deficiency in infancy on language: A study of a minimal-pair of twins

Thiamine, vitamin B1, is a crucial component in brain development. This study examined the role thiamine plays in the development of language, by examining the long-term effects of thiamine deficiency in infancy. The participants were a young adult who had consumed a thiamine-deficient baby formula at age 1;0–1;5, and her non-identical twin sister, who had consumed a non-deficient formula. We conducted a comprehensive assessment of various language abilities, including syntax, morphology, lexical encoding and retrieval, word and nonword reading, and phonological working memory, most of which have not been previously tested in individuals who had thiamine deficiency in infancy. The twin who had thiamine deficiency showed selective deficits in various language domains, including syntactic movement, morphology, and lexical abilities (which also caused surface dyslexia in reading aloud). She also showed impaired input and output phonological working memory and impaired reading aloud of nonwords (involving voicing errors, morphological errors, and lexicalizations). Her twin sister, who did not have thiamine deficiency, showed typical language abilities. The findings show for the first time that language disorders due to thiamine deficiency in infancy persist into adulthood. In light of previous literature of adults whose thiamine deficiency took place in adulthood, who do not show language impairments, we suggest that thiamine is crucial for language development during the critical period for first language acquisition in the first years of life. Thiamine deficiency during the critical period may cause long-lasting impairments in syntax, morphology, reading, phonological working memory, and lexical abilities.

A cross-sectional study on ocular biometrics and parametric changes between identical and non-identical twins

A cross-sectional study on ocular biometrics and parametric changes between identical and non-identical twins

Vagus Nerve Stimulation-Induced Pseudo-Pheochromocytoma

We present the case of a 38-year-old man with mental retardation, autism, and refractory epilepsy since the early neonatal period. He was born after an uncomplicated dizygotic twin-pregnancy and birth. His nonidentical twin brother is in good health. The epilepsy is characterized by focal and focal to bilateral tonic–clonic seizures. At the age of 20, a seizure in a swimming pool resulted in a near-drowning, which required cardiopulmonary resuscitation.