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Consortium Psychiatricum Dec 2023We have described a clinical case of psychotic disorder induced by synthetic cathinones in one drug-addicted monozygotic twin. This clinical case is unique, because it...
We have described a clinical case of psychotic disorder induced by synthetic cathinones in one drug-addicted monozygotic twin. This clinical case is unique, because it offers the opportunity to observe many features of the singularity of the dependence syndrome in twin brothers: drug choice; motivation to use drugs; and the development of multiple, long-lasting psychoses in one of the brothers. We pursued a twelve-month follow-up of this case. The case substantiates the paucity of a fundamental understanding of mental disorders and highlights the importance of further research into the clinical features of drug-induced psychoses, especially those induced by novel psychoactive substances such as synthetic cathinones.
PubMed: 38618640
DOI: 10.17816/CP13619 -
Journal of Neurosurgery. Spine Jul 2024Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is... (Review)
Review
OBJECTIVE
Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is considered largely sporadic-however, there exists growing evidence of transmissible genetic underpinnings. The purpose of this systematic review of all familial studies of CM was to investigate the existence of an inherited component and provide recommendations to manage and monitor at-risk family members.
METHODS
This paper includes the following: 1) a unique case report of dizygotic twins who presented at the Toronto Western Hospital Spinal Cord Clinic with symptomatic CM type 1 (CM-1) and syringomyelia; and 2) a systematic review of familial CM. The EMBASE and MEDLINE databases were searched on June 27, 2023, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only articles in the English language concerning the diagnosis of CM in > 1 human family member presented as a case study, case series, or literature review were included.
RESULTS
Among the 29 articles included in the final analysis, a total of 34 families with CM were analyzed. An average of 3 cases of CM were found per family among all generations. Eighty-one cases (88%) reported CM-1, whereas the other 11 (12%) cases reported either CM-0, CM-1.5, or tonsillar ectopia. A syrinx was present in 37 (54%) cases, with 14 (38%) of these patients also reporting a skeletal abnormality, the most common comorbidity. Most family members diagnosed with CM were siblings (18; 35%), followed by monozygotic twins/triplets (12; 23%).
CONCLUSIONS
Patients most often presented with headaches, sensory disturbances, or generalized symptoms. Overall, there exists mounting evidence for a hereditary component of CM. It is unlikely to be explained by a classic mendelian inheritance pattern, but is rather a polygenic architecture influenced by variable penetrance, cosegregation, and entirely nongenetic factors. For first-degree relatives of those affected by CM, the authors' findings may influence clinicians to conduct closer clinical and radiographic monitoring, promote patient education, and consider earlier genetic testing.
Topics: Humans; Arnold-Chiari Malformation; Syringomyelia; Twins, Dizygotic
PubMed: 38608294
DOI: 10.3171/2024.1.SPINE231277 -
ELife Apr 2024Human fetal development has been associated with brain health at later stages. It is unknown whether growth in utero, as indexed by birth weight (BW), relates...
Human fetal development has been associated with brain health at later stages. It is unknown whether growth in utero, as indexed by birth weight (BW), relates consistently to lifespan brain characteristics and changes, and to what extent these influences are of a genetic or environmental nature. Here we show remarkably stable and lifelong positive associations between BW and cortical surface area and volume across and within developmental, aging and lifespan longitudinal samples (N = 5794, 4-82 y of age, w/386 monozygotic twins, followed for up to 8.3 y w/12,088 brain MRIs). In contrast, no consistent effect of BW on brain changes was observed. Partly environmental effects were indicated by analysis of twin BW discordance. In conclusion, the influence of prenatal growth on cortical topography is stable and reliable through the lifespan. This early-life factor appears to influence the brain by association of brain reserve, rather than brain maintenance. Thus, fetal influences appear omnipresent in the spacetime of the human brain throughout the human lifespan. Optimizing fetal growth may increase brain reserve for life, also in aging.
Topics: Female; Pregnancy; Humans; Longevity; Fetus; Brain; Aging; Birth Weight
PubMed: 38602745
DOI: 10.7554/eLife.86812 -
Equine Veterinary Journal Jul 2024Twin gestation in the mare is undesirable and can have disastrous consequences. As in many cases, the key to success in twin management lies in a thorough follow-up and... (Review)
Review
Twin gestation in the mare is undesirable and can have disastrous consequences. As in many cases, the key to success in twin management lies in a thorough follow-up and accurate recording of clinical findings in the pre-breeding examination. A pregnancy diagnosis in the mobility phase is imperative for a good outcome in the event of twin reduction. If a twin gestation is not diagnosed during this early pregnancy stage, several other procedures exist for managing post-fixation twins (>16 days) with varying degrees of success. Most twin pregnancies are the result of multiple ovulations (dizygotic twins). However, monozygotic twins are also sporadically diagnosed, due to the increasing number of transferred in vitro produced equine embryos. In these cases, the most optimal treatment strategy still needs to be determined. This review provides an overview of the various twin reduction techniques described with the expected prognosis as well as of some less reported techniques with their results. In addition, physiological events and the reduction techniques are demonstrated to the user in virtual 3-dimensional illustrations.
Topics: Animals; Female; Pregnancy; Horse Diseases; Horses; Pregnancy Reduction, Multifetal; Pregnancy, Twin; Pregnancy, Animal
PubMed: 38594910
DOI: 10.1111/evj.14094 -
Advanced Materials (Deerfield Beach,... Jun 2024Monochorionic twinning of human embryos increases the risk of complications during pregnancy. The rarity of such twinning events, combined with ethical constraints in...
Monochorionic twinning of human embryos increases the risk of complications during pregnancy. The rarity of such twinning events, combined with ethical constraints in human embryo research, makes investigating the mechanisms behind twinning practically infeasible. As a result, there is a significant knowledge gap regarding the origins and early phenotypic presentation of monochorionic twin embryos. In this study, a microthermoformed-based microwell screening platform is used to identify conditions that efficiently induce monochorionic twins in human stem cell-based blastocyst models, termed "twin blastoids". These twin blastoids contain a cystic GATA3+ trophectoderm-like epithelium encasing two distinct inner cell masses (ICMs). Morphological and morphokinetic analyses reveal that twinning occurs during the cavitation phase via splitting of the OCT4+ pluripotent core. Notably, each ICM in twin blastoids contains its own NR2F2+ polar trophectoderm-like region, ready for implantation. This is functionally tested in a microfluidic chip-based implantation assay with epithelial endometrium cells. Under defined flow regimes, twin blastoids show increased adhesion capacity compared to singleton blastoids, suggestive of increased implantation potential. In conclusion, the development of technology enabling large-scale formation of twin blastoids, coupled with high-sensitivity readout capabilities, presents an unprecedented opportunity for systematically exploring monochorionic twin formation and its impact on embryonic development.
Topics: Humans; Female; Pregnancy; Twinning, Monozygotic; Blastocyst; Embryo, Mammalian; Chorion; Bioengineering; Models, Biological; Embryo Implantation
PubMed: 38593372
DOI: 10.1002/adma.202313306 -
Science Immunology Apr 2024Although human twin studies have revealed the combined contribution of heritable and environmental factors in shaping immune system variability in blood, the...
Although human twin studies have revealed the combined contribution of heritable and environmental factors in shaping immune system variability in blood, the contribution of these factors to immune system variability in tissues remains unexplored. The human uterus undergoes constant regeneration and is exposed to distinct environmental factors. To assess uterine immune system variation, we performed a system-level analysis of endometrial and peripheral blood immune cells in monozygotic twins. Although most immune cell phenotypes in peripheral blood showed high genetic heritability, more variation was found in endometrial immune cells, indicating a stronger influence by environmental factors. Cytomegalovirus infection was identified to influence peripheral blood immune cell variability but had limited effect on endometrial immune cells. Instead, hormonal contraception shaped the local endometrial milieu and immune cell composition with minor influence on the systemic immune system. These results highlight that the magnitude of human immune system variation and factors influencing it can be tissue specific.
Topics: Female; Humans; Twins, Dizygotic; Twins, Monozygotic; Endometrium; Uterus; Immune System
PubMed: 38579017
DOI: 10.1126/sciimmunol.adj7168 -
Journal of Clinical Immunology Apr 2024
Topics: Humans; Epstein-Barr Virus Infections; Herpesvirus 4, Human; Hodgkin Disease; Immunotherapy; T-Lymphocytes; Twins, Monozygotic; Cation Transport Proteins
PubMed: 38578340
DOI: 10.1007/s10875-024-01690-0 -
EBioMedicine May 2024Type 2 diabetes (T2D) susceptibility is influenced by genetic and environmental factors. Previous findings suggest DNA methylation as a potential mechanism in T2D...
BACKGROUND
Type 2 diabetes (T2D) susceptibility is influenced by genetic and environmental factors. Previous findings suggest DNA methylation as a potential mechanism in T2D pathogenesis and progression.
METHODS
We profiled DNA methylation in 248 blood samples from participants of European ancestry from 7 twin cohorts using a methylation sequencing platform targeting regulatory genomic regions encompassing 2,048,698 CpG sites.
FINDINGS
We find and replicate 3 previously unreported T2D differentially methylated CpG positions (T2D-DMPs) at FDR 5% in RGL3, NGB and OTX2, and 20 signals at FDR 25%, of which 14 replicated. Integrating genetic variation and T2D-discordant monozygotic twin analyses, we identify both genetic-based and genetic-independent T2D-DMPs. The signals annotate to genes with established GWAS and EWAS links to T2D and its complications, including blood pressure (RGL3) and eye disease (OTX2).
INTERPRETATION
The results help to improve our understanding of T2D disease pathogenesis and progression and may provide biomarkers for its complications.
FUNDING
Funding acknowledgements for each cohort can be found in the Supplementary Note.
Topics: Humans; Diabetes Mellitus, Type 2; DNA Methylation; CpG Islands; Female; Male; Genome-Wide Association Study; Genetic Predisposition to Disease; Middle Aged; Epigenesis, Genetic; Otx Transcription Factors; Diabetes Complications; Gene Expression Profiling
PubMed: 38574408
DOI: 10.1016/j.ebiom.2024.105096 -
JAMA Psychiatry Jun 2024
Topics: Humans; Obsessive-Compulsive Disorder; Male; Female; Diseases in Twins; Adult; Twins, Monozygotic; Twins, Dizygotic; Genetic Predisposition to Disease
PubMed: 38568562
DOI: 10.1001/jamapsychiatry.2024.0299 -
Journal of Orthopaedic Surgery and... Apr 2024The etiology of osteochondrosis dissecans (OCD), a chondropathy associated with detachment of the subchondral bone and the overlaying cartilage, is not yet fully...
INTRODUCTION
The etiology of osteochondrosis dissecans (OCD), a chondropathy associated with detachment of the subchondral bone and the overlaying cartilage, is not yet fully understood. While repetitive physical exercise-related stress is usually assumed to be the main risk factor for the occurrence of OCD, genetic predisposition could have an underestimated influence on the development of the disease.
CASE REPORT
We report a case of monozygotic twins with almost identical stages of bilateral osteochondrosis dissecans of the knee joint. In both patients, initially, a unilateral lesion occurred; despite restricted physical exercise, in the further course of the disease a lesion also developed on the contralateral side. While the lesion found most recently demonstrated an ongoing healing process at a 6-month follow-up, the other three lesions showed a natural course of healing under conservative treatment with significant clinical as well as radiological improvements after one year and complete consolidation in magnetic resonance imaging (MRI) after 2 years.
CONCLUSION
There could be a genetic component to the development of OCD, although this has not yet been proven. Based on a two-year MRI follow-up, we were able to show the self-limiting characteristics of juvenile osteochondrosis dissecans.
Topics: Humans; Knee Joint; Magnetic Resonance Imaging; Osteochondritis Dissecans; Osteochondrosis; Radiography; Twins, Monozygotic
PubMed: 38561825
DOI: 10.1186/s13018-024-04683-2