Phenotypic analysis of discordant monozygotic twins for pain-related temporomandibular joint disorder. Case report / Análise fenotípica de gêmeas monozigóticas discordantes para disfunção temporomandibular dolorosa. Relato de caso

ABSTRACT BACKGROUND AND OBJECTIVES: The design of research with monozygotic twins discordant for the disease has emerged as a powerful tool for the detection of phenotypic risk factors. The aim of this study is to report a clinical case of monozygotic twins discordant for pain-related temporomandibular joint disorder (TMD) from a cognitive-behavioral-emotional phenotypic analysis, from the comparison of clinical variables of pain, history of exposure to painful procedures in early childhood, and coping with pain. CASE REPORT: TMD-Twin presented a diagnosis of painful (myofascial pain with referral) and joint (disk displacement with reduction) TMD according to the criteria of the DC/TMD. Control-Twin did not show TMD, however she presented other chronic pains. TMD-Twin showed reduced pressure pain threshold, hyperalgesia in trigeminal and extra-trigeminal regions compared to the Control-Twin. TMD-Twin was more exposed to painful procedures and emotional events due to congenital heart problems. Both had central sensitization based on the Central Sensitization Inventory, although TMD-Twin had more catastrophic thoughts about pain. TMD-Twin presented an internal locus of control. CONCLUSION: Both monozygotic twins presented a chronic pain phenotype, although they were discordant with the TMD-related pain. The main differences were the lower pressure pain threshold and higher hyperalgesia locally presented by TMD-Twin. The internal locus of control indicates greater pain sensitivity, with better coping of the painful experience for the TMD-Twin. One possible explanation for this clinical condition can be that painful experiences in early childhood have shaped a phenotype of greater sensitivity with better coping and resilience to the painful condition.

RESUMO JUSTIFICATIVA E OBJETIVOS: O desenho da pesquisa com gêmeos monozigóticos discordantes para a doença surgiu como uma ferramenta poderosa para a detecção de fatores de risco fenotípicos. O objetivo deste estudo foi relatar um caso clínico de gêmeas monozigóticas discordantes para disfunção temporomandibular (DTM) dolorosa a partir de análise fenotípica cognitivo-comportamental-emocional entre elas, por meio de comparação de variáveis clínicas de dor, histórico de exposição a procedimentos dolorosos na primeira infância e enfrentamento de dor (autoeficácia e lócus de controle). RELATO DO CASO: A gêmea-DTM apresentou diagnóstico de DTM dolorosa (dor miofascial com referência) e articular (deslocamento do disco com redução) segundo os critérios do Critérios de Diagnóstico para Distúrbios Temporomandibulares. A gêmea--controle não apresentou DTM, contudo apresentou manifestação clínica de outras dores crônicas. A gêmea-DTM apresentou limiar de dor à pressão reduzido, hiperalgesia em regiões trigeminais/extra-trigeminais quando comparados à gêmea-controle, que na primeira infância foi mais exposta a procedimentos dolorosos devido a problemas cardíacos congênitos. Ambas apresentaram sensibilização central de acordo com o Inventário de Sensibilização Central, embora a gêmea-DTM apresentou mais pensamentos catastróficos sobre a dor. A gêmea-DTM apresentou lócus de controle interno. CONCLUSÃO: Ambas as gêmeas apresentaram fenótipo de dor crônica, apesar do fato de serem discordantes para a DTM. Dentre as avaliações, as que mais diferiram entre o par foram o baixo limiar de dor à pressão e hiperalgesia local presentes na gêmea com DTM. O lócus de controle interno associado à maior sensibilidade indicou melhor enfrentamento da experiência dolorosa para a gêmea-DTM. Uma possível explicação para esta manifestação clínica está pautada na hipótese de que experiências dolorosas na primeira infância vivenciadas por ela tenham moldado um fenótipo de maior sensibilidade com melhor enfrentamento e resiliência frente à condição dolorosa.

A study of susceptibility genes in rare monozygotic twins with generalized aggressive periodontitis / 口腔疾病防治

Objective@#Exploring the effects of susceptibility genes on aggressive periodontitis during its occurrence and development lays a foundation for further research on its genetic pathogenesis.@*Methods@#Medical history and clini⁃ cal indicators were collected from monozygotic twins with generalized aggressive periodontitis. Susceptibility genes were detected by polymerase chain reaction⁃restriction fragment length polymorphisms, and the exon gene components were analyzed by whole⁃exome sequencing. @*Results @#The severity of generalized aggressive periodontitis in the twins was dif⁃ ferent (P < 0.05). Florida diagnosis results showed that the younger sister’ s explored clinical depth (probing depth, PD) and clinical attachment loss (CAL) were higher than those for the elder sister, but her clinical bleeding index (bleeding on probing, BOP) was lower than that of the elder sister. In addition, their responses to periodontal basic treatment were different (P < 0.05). After treatment, the improvement of CAL and decline in BOP were more obvious in the elder sister,and the proportion of different periodontal pocket depths in the elder sister decreased after treatment, while the de⁃ crease was slighter in the younger sister. Genetic tests revealed that the twins had the same genotypes at target suscepti⁃ bility genes (IL⁃1β⁃511, IL⁃1β+3953, TNF⁃α⁃308, FcγR⁃IIIb, VDR, and ER) and differential exon gene components, and that the suspected differential genes, e.g. ZFPM1, PTH2, ZFYVE16, and LY6G6C, might be related to their pheno⁃ typic differences.@* Conclusion@#These monozygotic twins had different phenotypes of generalized aggressive periodonti⁃ tis. Their shared susceptibility genes increased the risk of disease, and their different genetic mutations affected the phe⁃ notype of the disease

Recurrent Intussusceptions in Identical Twins, Visited to Emergency Department

This report presents a set of identical twins who had recurrent intussusceptions. One twin had intussusception 3 times, and the other had it 7 times. They were usually diagnosed by ultrasonography and reduced by air contrast enema. Manual operative reduction was performed separately for each one due to failure of the enema. Unfortunately, we still could not determine the exact cause. A few cases of intussusceptions in identical twins within a few days of each other have been reported, which may be the result of a congenital predisposition triggered by an acquired agent. We report a rare case of recurrent intussusceptions in identical twins within 4 years.

Research on the Etiology of Pedophilia through Monozygotic Twins with Pedophilia : A Case Report / 신경정신의학

Recent studies have suggested an association of genetic and neurodevelopmental factors with development of paraphilia. In this case report on monozygotic twins with pedophilia, we aim to offer additional evidence indicating that genetic vulnerability may be a significant risk factor along with environmental influences on development of pedophilia. These twin pairs, who have been arrested for sexual offenses against boys, had experienced emotional and physical abuse during their childhood, and the older twin brother is reported to have a history of sexual abuse. Both showed homosexual tendencies, and the younger twin brother was also diagnosed as exhibitionism. This case implies greater involvement of genetic factors and associated vulnerabilities in the etiology of paraphilia, including pedophilia, than environmental factors such as childhood abuse. In the future, conduct of research will be needed in order to determine the biological markers related to the etiology of pedophilia.

Double-headed Monster Delivered Vaginally.

Double-headed monster is a rare and interesting variety of twin pregnancy. In this report, we describe a case of 26-year-old gravida 3 para 2 + 0 who was referred to our center with delivered head since one hour and failure to deliver rest of the body. Here, rest of the body with second head was delivered vaginally using McRobert’s maneuver with only few vaginal lacerations to mother.

Clinico-Electrographic Concordance Between Monozygotic Twins with Temporal Lobe Epilep / 대한간질학회지

We report a monozygotic twins with temporal lobe epilepsy, almost concordant in the onset time of firt seizure, lateralization and localization of epileptiform discharges. Partial seizures with secondarily generalized seizure occurred 15 days apart. EEG showed frequent spike-slow wave complexes on the right temporal area but the findings of brain MRI were normal in both. Past medical, delivery, developmental and family history were unremarkable. They had no physical and mental handicaps, and any other underlying causes of epilepsy. They have been on monotherapy with seizure free, although follow up EEG showed frequent spike-slow wave complexes after medication. As seizures developed simultaneously, the localization and lateralization of epileptiform discharges were concordant in our monozygotic twins, we suggest that genetic factor might be the most probable etiology of epilepsy in our cases but needs to be elucidated.

Comparison of growth and neuropsychological function after treatment for hematologic and oncologic diseases in monozygotic twins / 소아과

PURPOSE: The primary purpose of this study was to evaluate the growth and neuropsychologic function following treatments for pediatric hematologic and oncologic diseases. Healthy monozygotic twins served as ideal controls for comparison to exclude possible confounding factors. METHODS: Seven children treated with various hematologic and oncologic diseases were included in the study: acute lymphoblastic leukemia (ALL; n=2), Diamond-Blackfan anemia twins (n=2), and aplastic anemia (n=3). The median age at the diagnosis was 5.2 (0.3-15) years. The median duration of follow-up was 7.2 (4.9-10) years. Controls were healthy monozygotic twins. Growth was measured and the percentile channels were evaluated sequentially for patients. The K-WISC III was applied and compared in 5 pairs of patients and controls. RESULTS: Similar growth profiles were noted for the twins. The percentiles at diagnosis was 3-10 in 3, 25-50 in 2, and 50-75 in 2 cases. All patients stayed in their growth percentiles through follow-up, except for 1 patient who became obese. For IQ tests, the mean behavioral, verbal and full scale IQ scores of patients were 88.0, 93.8, and 89.8, respectively, and those from their corresponding controls were 92.2, 97.0, and 91.7 (P>0.05). However, 2 children who were treated for ALL had lower IQ scores. CONCLUSION: Similar growth profiles were observed in the monozygotic twins in terms of height and weight. The IQ scores of patients were similar to those of monozygotic twins. However, prophylactic CNS-directed therapy for leukemia might adversely affect the IQ scores. A further prospective study on larger number of twins is warranted.

A Case of Two Sets of Monozygotic Twins after ICSI and Blastocyst Transfer / 대한산부인과학회지

One of the most important complications in assisted reproductive technology (ART) is multiple pregnancy, which is associated with an increased risk of maternal and perinatal complications. There have been several attempts to achieve the highest pregnancy rates while minimizing multiple pregnancy rates in in vitro fertilization and embryo transfer (IVF-ET). One approach for this purpose is extended embryo culture and transfer of fewer (one or two) blastocysts. However, there are emerging concerns about the increase of the risk for embryo splitting and subsequent monozygotic multiple pregnancy with this approach. Recently, there have been several reports on the possible increased risk of monozygotic twinning after extended embryo culture and blastocyst transfer. We have experienced a case of two sets of monozygotic twins after intracytoplasmic sperm injection (ICSI) and transfer of two blastocysts. We report the first case of pregnancy of monozygotic twins after blastocysts transfer with a brief review of literature in Korea.

Familial Multiple Endocrine Neoplasia, Type I, in Identical Twins

We report of case of one monozygotic twin sister with pituitary tumor and multiple endocrine neoplasia, type 1.The older sister, 31-year-old woman, had undergone Gamma Knife radiosurgery for prolactin producing pituitary microadenoma. Four years later, pancreatic insulinoma was detected, distal pancreatectomy and splenectomy were done. The younger sister, 31-year-old woman, had been operated for pancreatic insulinoma, 12 years ago. One year ago, hyperparathyroidism and pituitary macroadenoma were detected. Tumor removal was followed by Gamma Knife radiosurgery for residual tumor.

A Case of Diamnionic Monochorionic Monozygotic Twin Which was Conceived by In Vitro Fertilization / 대한산부인과학회잡지

Monozygotic twinning is a relatively rare event in vivo conception, being estimated to occur in 0.42% of all birth. The underlying mechanism for monozygotic twin formation is the division of the embryo early in its development. Separation of cells may theoretically occur before or after inner cell mass formation. The incidence of monozygotic twinning following assisted reproduction techniques is higher than the commonly accepted incidence after in vivo conception. Patients at particular risk of monozygotic twins are those aged > 35 years and those who had manipulation techniques for assisted fertilization. Hence, it seems prudent to counsel these patients about the potential obstetric complications of monozygotic multiple gestations prior to the initiation of their treatment.

A case of monozygotic twin with Down syndrome

No abstract available.