Monozygotic Twin Sisters Research Articles

Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature.

To report identical twin sisters harboring the A317T mutation in the thyroid hormone beta receptor gene (TR β) who developed atrial fibrillation and refractory congestive heart failure in the sixth decade of life. To critically assess whether the A317T mutation may be responsible for increased cardiotoxicity compared to other thyroid hormone beta receptor gene mutations. A 59-year-old woman referred for evaluation of abnormal thyroid function tests had been experiencing frequent spells of tachycardia associated with dyspnea, and dizziness necessitating multiple hospitalizations. Elevation in free thyroxine (T4), total triiodothyronine (T3) and inappropriately normal thyroid stimulating hormone (TSH) was consistent with a clinical diagnosis of thyroid hormone resistance. Magnetic resonance imaging of the brain was negative for a TSH-secreting pituitary adenoma. A blood sample was sent for thyroid hormone receptor gene mutational analysis, but it would require eight weeks to complete processing. A modified L-T3 suppression test was used to assess thyroid-pituitary axis feedback. After three weeks' of cytomel (L-T3) (25 micrograms daily) TSH decreased by 50%, and free T4 level decreased by 22% compared to baseline levels. Genetic testing revealed a heterozygous A317T mutation in the thyroid hormone beta receptor gene. Serial two-dimensional echocardiography demonstrated evolution to left atrial enlargement over a three-year period. Prior published literature suggests a less than 10% prevalence of atrial fibrillation in adults with thyroid hormone resistance harboring various TR-β gene mutations. Yet all five of five (100%) adults having the A317T mutation were reported to experience atrial fibrillation by age 50. A new kindred with resistance to thyroid hormone harboring the A317T disease-causative mutation is described in which identical twin sisters had a mid-life onset of atrial fibrillation and refractory congestive heart failure.

Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature

Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature

PD25-12 MONOZYGOTIC TWIN UTERUS TRANSPLANTATION

You have accessJournal of UrologyTransplantation & Vascular Surgery: Renal Transplantation & Vascular Surgery I1 Apr 2018PD25-12 MONOZYGOTIC TWIN UTERUS TRANSPLANTATION Miroslav Djordjevic, Milan Milenkovic, Pernilla Dahm-Kähler, Niclas Kvarnström, Stefan Tullius, Marta Bizic, Gradimir Korac, and Mats Brännström Miroslav DjordjevicMiroslav Djordjevic More articles by this author , Milan MilenkovicMilan Milenkovic More articles by this author , Pernilla Dahm-KählerPernilla Dahm-Kähler More articles by this author , Niclas KvarnströmNiclas Kvarnström More articles by this author , Stefan TulliusStefan Tullius More articles by this author , Marta BizicMarta Bizic More articles by this author , Gradimir KoracGradimir Korac More articles by this author , and Mats BrännströmMats Brännström More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2018.02.1339AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Transplantation of the uterus is required in cases of absolute uterine factor infertility (AUFI), which are caused either because of uterus deficiency (congenital or after a hysterectomy) or existence of non-functional uterus. METHODS Uterus transplantation between two 37-year-old monozygotic twin sisters, was performed in March 2017, at University Children's Hospital. Donor sister had three pregnancies from which she gave birth to three children by vaginal delivery. In-vitro fertilization treatment of the recipient and her husband was performed before the surgery, from which 11 embryos were cryopreserved. The donor surgery lasted for 12 hours, while the recipient surgery lasted for 4.5 hours. The surgeries were performed by two teams parallel in two adjacent operative theatres. The anastomosis was created between uterine artery and external iliac artery as well as between uterine vein and external iliac vein on both sides. Adequate perfusion was confirmed by Doppler echosonography. RESULTS Both patients had uneventful surgeries. The uterus recipient was followed on a daily basis by Doppler echosonography during the hospital stay, and both patients were discharged after 7 days of hospitalization. Cervix biopsies were performed of 7th, 14th and 21st day after the surgery as well as regular gynecological examination with the bacterial culture from the cervix. The recipient patient did not have to take the immunosuppressive therapy as the donor was a monozygotic twin. Menstrual bleeding occurred 2 weeks after the uterus transplantation and embryo transfer was performed in September 2017 with no success and the second is planned three months after. CONCLUSIONS Uterus transplantation represents the only treatment in cases of AUFI, particularly since the surrogacy is not allowed in many countries and cultures. Though debates on ethical and moral issues concerning uterus transplantation are still present, it certainly represents hope for motherhood in women with absolute uterine factor infertility. © 2018FiguresReferencesRelatedDetails Volume 199Issue 4SApril 2018Page: e551 Advertisement Copyright & Permissions© 2018MetricsAuthor Information Miroslav Djordjevic More articles by this author Milan Milenkovic More articles by this author Pernilla Dahm-Kähler More articles by this author Niclas Kvarnström More articles by this author Stefan Tullius More articles by this author Marta Bizic More articles by this author Gradimir Korac More articles by this author Mats Brännström More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

Clinical and molecular genetic study of Cockayne syndrome accompanied with nephrotic syndrome in a family

Objective To analyze the clinical and genetics characteristics in twin sisters with Cockayne syndrome. Methods The identical twin sisters visited the Affiliated Children′s Hospital of Capital Institute of Pediatrics in December 2016.The clinical presentations, course of treatment, blood biochemistry, metabolic screening and whole exon sanger sequencing were analyzed. Results These two patients were referred at 4 years and 5 months of age for growth failure and developmental delay.The younger sister manifested short stature (only 97 cm), low weight (14.0 kg) and little head circumference (43 cm), and the elder sister manifested short stature (only 98 cm), low weight (15.5 kg) and little head circumference (43 cm). They were born with out adverse event, and then they kept the head up at 8 months of age.They could sit at 10 months of age, but they had not acquired independent walking ability up till now.They spoke their first words at 2 year of age, and made little progress after that.They had a variety of abnormal clinical features including cognitive deficits, microcephaly, thin pointy nose, sunken eyes, small chin, photosensitive rash, hearing impairment, volitional tremor and hypermyotonia.They had been diagnosed as nephrotic syndrome at 4.5 years old, with little response to prednisone.The renal biopsy revealed minimal change nephropathy.Cerebrum and cerebellum atrophy was detected by magnetic resonance image scanning.Two heterozygous ERCC8 mutations in both patients, c.394_398delTTACA and large fragment deletion, were identified in the patient.The c. 394_398delTTACA mutation originated from his father.The exon 4 deletion from his mother caused the defection of the protein. Conclusions Cockayne syndrome is a rare autosomal recessive disease.It is not only characterized by developmental delay, microcephaly, sunken eyes, photosensitive rash and auditory abnormalities, but also can be involved in nephrotic syndrome.Cockayne syndrome can be caused by compound heterozygous mutation, including c. 394_398delTTACA and a large fragment deletion of exon 4 in ERCC8. Key words: Cockayne syndrome; Nephrotic syndrome; ERCC8 gene; Microcephaly

Monozigot İkizlerde Ayna-Görüntüsü Koryoretinal Kolobom

To describe two monozygotic twin sisters with unilateral chorioretinal coloboma (CRC) involving the optic disc was aimed. Monozygotic twin sisters with unilateral chorioretinal coloboma with healthy fellow eyes were diagnosed with Familial Mediterranean Fever (FMF), receiving colchicine therapy. Twin No1 was affected on the left eye and the Twin No 2 on the right eye. Optical coherence tomography showed that the foveal architecture was preserved in both patients. We report the first identical twins presenting with mirror image CRC.

Treatment of identical twins with congenitally missing maxillary lateral incisors – a long-term follow-up

Abstract Congenitally missing upper lateral incisors can significantly alter the aesthetic appearance of a smile. The orthodontic challenge is to achieve acceptable facial aesthetics by restoring the dentition either by replacing the missing teeth or by substituting the canines for the lateral incisors. The present case report discusses the orthodontic treatment of two identical twin sisters with missing upper lateral incisors, in whom the spaces were reopened to accommodate prosthetic replacement. The rationale for this treatment alternative is discussed.

A journey from being preterm to pediatric neurology

This article highlights the story of two pediatric neurology residents (identical twin sisters Rana and Rawan) who work at the Division of Pediatric Neurology, Department of Pediatrics, College of Medicine and King Khalid University Hospital (KKUH), King Saud University, Riyadh, Saudi Arabia. They were born in October 1990 in the same hospital (KKUH), following preterm delivery at 33 weeks. Their birth weight was 2,000 and 1,900 g, respectively. They were admitted to the Neonatal Intensive Care Unit (NICU) at KKUH for 2 weeks. Enduring prolonged struggles due to respiratory related conditions and frequent visits to the Emergency Room during their childhood, they excelled in school graduating with high honors throughout elementary, intermediate, and secondary schools. They joined the College of Medicine, KKUH and graduated with the highest distinction (summa cum laude), and were chosen to join the Saudi Board of Pediatric Neurology Residency Program at KKUH. Their story was revealed, while they were doing a round at the same NICU, where they were once cared for 28 years earlier.

Different Complicated Brain Pathologies in Monozygotic Twins With Gerstmann-Sträussler-Scheinker Disease.

Gerstmann-Sträussler-Scheinker disease (GSS) is an autosomal, dominantly inherited prion disease. In this study, we present different complicated brain pathologies determined postmortem of monozygotic GSS twin sisters. Case 1 showed cerebellar ataxia at the age of 58 years, and died at 66 years. Case 2 became symptomatic at the age of 75 years, and died at 79 years. There was a 17-year difference in the age of onset between the twins. Postmortem examination revealed numerous prion protein (PrP) plaques in the brains of both cases. The spongiform change and brain atrophy in case 1 were more severe compared with those in case 2. Western-blot analysis identified proteinase-resistant PrP (PrPres) at the molecular weight of 21-30 kDa and 8 kDa in the twins. Gel filtration revealed that PrPres was mainly composed of PrP oligomer. PrPres signal patterns were similar between the twins. Additionally, case 1 showed α-synucleinopathy and case 2 showed Alzheimer disease pathology. These different proteinopathies were involved in the amyloid plaque formations of both cases. The degree of GSS pathology was mainly related to disease duration. The amyloid plaque formations could be decorated by concomitant neuropathological changes such as α-synucleinopathy and tauopathy.

Issue Information

Genes to CellsVolume 22, Issue 2 p. 125-129 Issue InformationFree Access Issue Information First published: 07 February 2017 https://doi.org/10.1111/gtc.12423AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Graphical Abstract Front cover: Walking monozygotic twin sisters in the snow are sharing an umbrella. They share the same genotype; however, they seem to have a different personality and taste as their kimono. It has been pointed out that the difference in epigenome would cause such difference in personality. The data printed on their sleeves that was obtained with the bisulfite sequencing (a method that can detect methylation of individual cytosine residues in DNA) and is showing their methylation patterns at a certain locus of the genome suggests that there are epigenetic differences between them. Our knowledge of the relationship between presumed hereditary traits or diseases and epigenetics will increase through studies of monozygotic twin-pairs of which one twin has such traits or diseases. Designed by TRAIS Co., Ltd. (Kobe, Japan). Volume22, Issue2February 2017Pages 125-129 RelatedInformation

Empire of Night by K. Armstrong

Armstrong, Kelley. Empire of Night. Doubleday Canada, 2015.This young ddult fantasy novel is the sequel to the book Sea of Shadows, and is the second of a trilogy. Empire of Night strongly benefits from reading the first book. It continues the story of identical twin sisters Moria and Ashyn, the Keeper and Seeker of Edgewood. In this mythical world, Keeper and Seeker are magical roles occupied by certain twin girls. They have the responsibility of quieting the souls of the damned. They are helped by a giant wildcat and a giant hound in their duties. Although close sisters, Moria and Ashyn have two very different personalities: Moria is a fiery warrior with strong talent for telling scary stories, while Ashyn is a shy romantic, more prone to thoughtful reservation.Empire of Night picks up close to where the first book ends. Moria and Ashyn are guests at the Emperor’s court, and their village of Edgewood is destroyed. Most of their family and friends are gone, and the twins are eager to take action against Alvar Kitsune, the man who holds the remaining children of Edgewood hostage. The Emperor, however, is slow to make a decision much to the frustration of the girls who find themselves having to navigate the politics of court. Moria, in particular, finds herself befriending Prince Tyrus, the kind, illegitimate son of the Emperor, who has unmistakable feelings for her.When the Emperor finally sends the girls on a rescue mission for the children, along with a small party of men and Prince Tyrus, the twins quickly find themselves on a perilous journey. It becomes unclear who can be trusted, even within their own group, and their mission becomes even more dangerous when Alvar accuses Moria and Tyrus of treason, putting a large bounty on their heads.Empire of Night is not as strong as the first book in the trilogy and does feature stereotypes of the young adult genre, but it is still a worthwhile book for collections. In particular, the book is notable because outside of the two heroines, all major characters in the book are people of colour, described with East Asian features. Moria and Ashyn are in fact the racial minority in a world largely rooted in Japanese feudalism, which includes Asian-inspired food, strong themes of filial piety, and the importance of honour. In fact, the two girls frequently encounter being stereotyped due to their Northern heritage, an interesting reversal and means of social commentary.The book suffers from a love triangle, but the other sister’s journey in navigating romance is worthwhile, as she learns how to turn down a potential suitor, and in spite of his negative reaction, remains mature and calm while also setting boundaries. These important themes for young adults are thoughtfully presented. The two main characters are also notable for being examples of two different kinds of strong females.Some readers may be deterred from the switch between point of view in storytelling, between the two sisters. The book also ends on a large cliffhanger, unlike its predecessor.Recommended: 3 out of 4 starsReviewer: Colette LeungColette Leung is a graduate student at the University of Alberta, working in the fields of Library and Information science and Humanities Computing who loves reading, cats, and tea. Her research interests focus around how digital tools can be used to explore fields such as literature, language, and history in new and innovative ways.

A Strengths-Based Cognitive Behavioral Approach to Treating Depression and Building Resilience in Collegiate Athletics: The Individuation of an Identical Twin

The current case reports the treatment approach used working with an NCAA Division I collegiate rower who initially sought sport psychology services for performance concerns. As the therapeutic relationship grew, the client disclosed stress related to her identical twin sister’s struggle with depression. Over the course of therapy, the client herself began to increasingly demonstrate symptoms congruent with depression. Working with an integrated treatment team including sports medicine and the coaching staff, the sport psychology consultant adopted a strengths-based cognitive behavioral approach that sought to draw on the client’s strengths while identifying the connection between the client’s thoughts, beliefs, emotions, and behaviors and her symptoms of depression. The case is discussed from a biopsychosocial model, and reflections on theoretical applications and interventions are provided. An emphasis is placed on the holistic treatment of collegiate athletes and performers in general. The author concludes by discussing the importance of a well-rounded, positive relationship between exercise science and mental health domains within the field of sport psychology.

My Identical Twin Sequenced our Genome.

With rapidly declining costs, whole genome sequencing is becoming feasible for widespread use. Although cost-effectiveness is driving increased use of the technology, comprehensive recommendations on how to handle ethical dilemmas have yet to reach a consensus. In this article, Sam shares her experience of undergoing whole genome sequencing. Despite the deeply private nature of the test, the results do not solely belong to Sam; her identical twin sister, Arielle, shares virtually the same genome and received results without a formal consent process. This article explores their parallel experiences as a way of highlighting the controversial ethics of a private test with familial implications.

Genetic and Environmental Effects on Telomere Length and Lung Function: A Twin Study.

The purpose of the study was to estimate the heritability of leukocyte telomere length (LTL) and lung function and to examine whether LTL and lung function share genetic or environmental effects in common. 386 monozygotic and dizygotic Finnish twin sisters (age 68.4±3.4 years) were included. Relative LTL was determined from peripheral blood DNA by qPCR. Lung function measures of FEV1, FVC, FEV1/FVC, and PEF were derived from spirometry. Genetic modeling was performed with MPlus statistical software. Univariate analysis revealed that in LTL, 62% (95% confidence interval 50-72) of the variance was explained by additive genetic and 38% (28-50) by unique environmental factors. For FEV1, FVC, and PEF, the corresponding estimates were 65%-67% for additive genetic and 33%-35% for unique environmental factors. Across the sample, the phenotypic correlation between LTL and FEV1 was modest (r = .104, p = .041). Bivariate correlated factors model revealed that the genetic correlation between LTL and FEV1 was .18 (-0.19 to 0.64) and environmental correlation was -.10 (-0.84 to 0.55). Both LTL and lung function variables are moderately to highly genetically determined. The associations between LTL and the lung function variables were weak. However, the positive genetic correlation point estimate gave minor suggestions that, in a larger sample, genetic factors in common might play a role in the phenotypic correlation between LTL and FEV1. Future studies with larger samples are needed to confirm these preliminary findings.

Thrombosis of Inferior Vena Cava Diagnosed Using Point-of-Care Ultrasound After Pediatric Near-Syncope

BackgroundVenous thromboembolism (VTE) is extremely rare but under recognized in the pediatric population. Although the literature on the use of ultrasound to detect VTEs in adults is plentiful, little has been documented on its use in the pediatric population. Case ReportWe present a case of a healthy 16-year-old female who presented to our emergency department with 3 months of dyspnea on exertion and one episode of near-syncope. Point-of-care cardiac ultrasound identified an inferior vena cava thrombosis. Subsequent computed tomography angiography diagnosed concurrent bilateral pulmonary emboli (PE). The patient's identical twin sister presented with similar symptoms shortly thereafter and was also diagnosed with VTE and bilateral PE. Why Should an Emergency Physician Be Aware of This?This case demonstrates an instance of VTE and pulmonary embolism in twin adolescent girls. Physical examination findings, electrocardiogram, chest x-ray study, and several previous evaluations did not reveal the diagnosis. Point of care ultrasound was used to correctly diagnosis VTE and for heightened concern for a pulmonary embolism.

Ikerpárban előforduló örökletes phaeochromocytoma

Phaeochromocytoma is a tumor of the catecholamine-producing cells of the adrenal gland. Extraadrenal phaeochromocytomas are frequently called paragangliomas. The majority of phaeochromocytomas are sporadic, however, about 25-30% are caused by genetic mutation. These tumor are frequently referred as hereditary phaeochromocytomas/paragangliomas. Their incidence increases continuously which can be attributed to availability of genetic examination and to the discovery of novel genes. The 47-year-old female patient underwent abdominal computed tomography which revealed bilateral adrenal gland enlargement. Abdominal magnetic resonance imaging, the 131-I- metaiodobenzylguanidine scintigraphy, urinary catecholamines and serum chomogranin A measurements confirmed the diagnosis of bilateral phaeochromocytomas. The genetically identical twin sister of the patient was also diagnosed with hormonally active bilateral phaechromocytoma, suggesting the genetic origin of phaeochromocytoma. Mutation screening confirmed a germline mutation of the transmembrane protein 127 tumorsupressor gene in both patients. Both patients underwent cortical-sparing adrenalectomy. The adrenal gland with the larger tumor was totally resected, while in the opposite side only the tumor was resected and a small part of the cortex was saved. After the operation urinary catecholamines and serum chromogranin A returned to normal in both patients. Adrenocortical deficiency was absent in the first patient, but her sister developed adrenal insufficiency requiring glucocorticoid replacement. To the best of the authors' knowledge phaeochromocytoma affecting twins has never been described earlier. Genetic examination performed in siblings confirmed the presence of the mutant gene through four generations. Orv. Hetil., 2016, 157(33), 1326-1330.

Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations

Homozygous familial hypercholesterolemia is a rare clinical phenotype with a variable expression, which is characterized by extremely elevated plasma low-density lipoprotein (LDL), tendon and skin xanthomas, and a progressive atherosclerosis. In 95% of patients, homozygous familial hypercholesterolemia is due to mutations in low-density lipoprotein receptor (LDLR) gene, which abolish (receptor-negative) or greatly reduce (receptor-defective) LDLR function. The objective of the study was the molecular and phenotypic characterization of 4 siblings with severe hypercholesterolemia. The major LDL-related genes (LDLR, APOB, PCSK9, ANGPTL3, APOE, and APOC3) were sequenced. LDLR messenger RNA, isolated from leukocytes, was reverse transcribed and sequenced. The index cases were 24-year-old identical twin sisters with long-standing tendon xanthomas and high low-density lipoprotein cholesterol (LDL-C ∼10mmol/L) but no coronary heart disease. They were carriers of 2 LDLR mutations: (1) a previously reported mutation [p.(G335S)] inherited from the mother who had LDL-C level within normal range; (2) a novel 24bp deletion in exon 8/intron 8 junction inherited from the hypercholesterolemic (LDL-C 6.1mmol/L) father. The deletion allele encodes an messenger RNA with a partial deletion of exon 8, whose translation product has an in-frame deletion of 17 amino acids [p.(Glu380_Gly396del)]. Family screening revealed that the 2 siblings of the twin sisters were also compound heterozygotes but had much lower LDL-C levels (8.2 and 7.1mmol/L). The sequence of potential modifying genes showed that the 2 siblings and the mother of the twin sisters were heterozygous for a rare missense variant of apoB [p.(S2429T)], which might have an LDL-lowering effect. We report a rare event of 4 siblings found to be compound heterozygotes for 2 LDLR gene mutations but showing a different phenotype severity. The less severely affected siblings were carriers of a rare apoB missense variant.

Celiac disease with Evans syndrome and isolated immune thrombocytopenia in monozygotic twins: a rare association

Celiac disease is a multisystem immune-mediated disorder caused by exposure to dietary gluten in genetically predisposed individuals. The clinical presentation is characterized by a multitude and diversity of symptoms and complications. The coexistence of celiac disease with other autoimmune disorders has been established, most frequently with type 1 diabetes mellitus and autoimmune thyroiditis. The association of celiac disease with immune-mediated hematologic conditions has been rarely reported. This case study describes a pair of identical twin sisters with celiac disease associated with Evans syndrome in one sibling, and with isolated immune thrombocytopenia in the other.

AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience.

Although aryl hydrocarbon receptor-interacting protein (AIP) mutations are rare in sporadic acromegaly, their prevalence among young patients is nonnegligible. The objectives of this study were to evaluate the frequency of AIP mutations in a cohort of Mexican patients with acromegaly with disease onset before the age of 30 and to search for molecular abnormalities in the AIP gene in teeth obtained from the "Tampico Giant". Peripheral blood DNA from 71 patients with acromegaly (51 females) with disease onset <30years was analysed (median age of disease onset of 23years) and correlated with clinical, biochemical and imaging characteristics. Sequencing was also carried out in DNA extracted from teeth of the Tampico Giant. Five patients (7%) harboured heterozygous, germline mutations of the AIP gene. In two of them (a 9-year-old girl with gigantism and a young man with symptoms of GH excess since age 14) the c.910C>T (p.Arg304Ter), well-known truncating mutation was identified; in one of these two cases and her identical twin sister, the mutation proved to be a de novo event, since neither of their parents were found to be carriers. In the remaining three patients, new mutations were identified: a frameshift mutation (c.976_977insC, p.Gly326AfsTer), an in-frame deletion (c.872_877del, p.Val291_Leu292del) and a nonsense mutation (c.868A>T, p.Lys290Ter), which are predicted to be pathogenic based on in silico analysis. Patients with AIP mutations tended to have an earlier onset of acromegaly and harboured larger and more invasive tumours. A previously described genetic variant of unknown significance (c.869C>T, p.Ala299Val) was identified in DNA from the Tampico Giant. The prevalence of AIP mutations in young Mexican patients with acromegaly is similar to that of European cohorts. Our results support the need for genetic evaluation of patients with early onset acromegaly.

Genome-Wide Identification of Epigenetic Hotspots Potentially Related to Cardiovascular Risk in Adult Women after a Complicated Pregnancy.

BackgroundThe physiological demands of pregnancy on the maternal cardiovascular system can catapult women into a metabolic syndrome that predisposes to atherosclerosis in later life. We sought to identify the nature of the epigenomic changes associated with the increased cardiovascular disease (CVD) risk in adult women following pre-eclampsia.FindingsWe assessed the genome wide epigenetic profile by methyl-C sequencing of monozygotic parous twin sister pairs discordant for a severe variant of pre-eclampsia. In the adult twin sisters at risk for CVD as a consequence of a complicated pregnancy, a set of 12 differentially methylated regions with at least 50% difference in methylation percentage and the same directional change was found to be shared between the affected twin sisters and significantly different compared to their unaffected monozygous sisters.ConclusionThe current epigenetic marker set will permit targeted analysis of differentially methylated regions potentially related to CVD risk in large cohorts of adult women following complicated pregnancies.

Agenesis of the Gallbladder in Monozygotic Twin Sisters

Agenesis of the gallbladder, a rare anomaly, is generally regarded as an organogenic failure. Several reports suggest that this congenital defect is inherited but that supposition remains controversial. We described agenesis of the gallbladder in identical twins. A 21-year-old female presented with a history of acute pain in the epigastrium and right hypochondrium. Various imaging modalities showed “gallbladder agenesis.” Moreover, her older identical twin sister had also no visualized gallbladder in imaging modalities. This case report strongly suggested that agenesis of the gallbladder would be caused by a genetic abnormality.