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1.
Rationale:Pentalogy of Cantrell (POC) is an extremely rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births. Its complete form includes a midline epigastric abdominal wall defect, defects affecting the lower sternum, anterior diaphragm, diaphragmatic pericardium, and various intracardiac defects.Patient concerns:We report a case of complete POC affecting only the first-born of a set of premature dizygotic twins.Diagnosis:A giant omphalocele with an eviscerated liver and bowel on prenatal, obstetric ultrasonography at 24 gestational weeks was observed. At birth, physical examination confirmed a massive (10 × 8 cm) epigastric omphalocele in which a significant part of the liver was seen. A postnatal echocardiogram revealed the presence of an ostium secundum atrial septal defect, perimembranous ventricular septal defect, and moderate pulmonary stenosis. X-ray showed an abnormal intrathoracic positioned stomach, which was confirmed with a plain x-ray of the upper intestinal tract with hydrosoluble contrast. Computed tomography (CT) scan revealed the sternum''s absence and a close connection between the pericardial sac and the stomach wall.Interventions:The patient underwent surgical intervention at 18 days of age.Outcomes:Despite adequate and appropriate postoperative treatment, the baby rapidly deteriorated and died 72 hours after surgery.Lessons:POC is a complex, high-mortality syndrome whose management requires a multidisciplinary approach and meticulous planning. Despite all efforts, POC carries a poor prognosis, particularly in patients affected by its complete form. 相似文献
2.
Yunan Wang Chang Liu Aihua Yin Xin Zhao Wei He Ying Xiong Liyuan Fang Jing Wu 《The Journal of international medical research》2021,49(1)
BackgroundCongenital ventricular diverticulum is a rare abnormality that may occur as an isolated malformation. Most cases are accompanied by pericardial effusion. Prenatal counseling can be difficult because the prognosis is uncertain and there is no consensus approach to prenatal management.Case presentation: We describe a case of congenital cardiac diverticulum complicated by large pericardial effusion in one of monochorionic diamniotic twins. The case was diagnosed by ultrasonography at 21 weeks of gestation. Therapeutic pericardiocentesis at 22 weeks resulted in complete resolution of the effusion and led to a favorable fetal outcome. We summarize the interventions and pregnancy outcomes in cases of cardiac diverticula reported in the literature.ConclusionsBetter awareness of clinical features, in utero therapies, and pregnancy outcomes could help define and improve prenatal management of congenital ventricular diverticula. 相似文献
3.
Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden
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《Journal of microbiology, immunology, and infection》2020,53(6):1030-1034
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease. We reported two 7-month-old identical male twins with Pseudomonas aeruginosa sepsis who initially manifested as oral ecthyma gangrenosum and were finally diagnosed to have XLA. In both cases, we confirmed the c.862C > T BTK missense mutation in exon 10 at the SH2 domain. 相似文献
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The present study examined well‐being and personal growth in mothers (n = 414) 1 year after childbirth. We examined the contribution of the event characteristics (birth of singletons or twins, full‐ or pre‐term babies, first or non‐first child, spontaneous pregnancy or fertility treatments and infant temperament), internal resources (attachment anxiety and avoidance) and external resources (marital quality and maternal grandmother's support). Regressions indicated that having a first child, child's easier temperament, lower attachment anxiety and avoidance, grandmother's emotional support and some aspects of the spousal relationships contributed to well‐being. Personal growth was found to be related to the birth of a pre‐term baby or babies, positively associated with maternal grandmother's support, and the marital quality of parenthood, and negatively with mothers' education. Beyond the findings that well‐being and personal growth are related to the availability of certain resources, the current study demonstrates that the two outcomes are separate phenomena that reveal different patterns of associations with other variables. Several explanations for the findings are proposed, and practical implications are discussed. Copyright © 2014 John Wiley & Sons, Ltd. 相似文献
8.
Grant Townsend BDS BScDent PhD Lindsay Richards BDS BScDent PhD 《Australian dental journal》1990,35(4):317-327
Comparisons of physical features within identical (monozygous) and non-identical (dizygous) twin pairs have provided valuable insights into the relative contributions of genetic and environmental influences to observed variability. The special nature of the twinning process itself also provides an opportunity to learn more about early human development, including how body symmetry is determined. The mechanisms of twinning, mortality and morbidity in twins, determination of body symmetry including the phenomenon of mirror-imaging, postnatal growth and development of twins, and zygosity determination are discussed. Twin studies with direct relevance to clinical dentistry are reviewed and illustrated by examples from an ongoing investigation of dentofacial morphology in South Australian twins. 相似文献
9.
AIM: The purpose of this study was to investigate the oral health in monozygotic twins where one twin had coronary heart disease (CHD) and the other twin had no clinical signs of the disease. METHODS: Ten monozygotic twin pairs (age 55-81 years, eight male, and two female pairs) were recruited from the Swedish twin register. The inclusion criterion for participation was discordance regarding the presence of CHD within every twin pair. All participants underwent a full dental clinical examination including a panoramic radiograph. RESULTS: Twins with CHD had 51.5% bleeding on probing compared with 21.1% without CHD (p=0.01), and more pathological pockets (> or = 4 mm) were detected among those with CHD (20+/-15 versus 8+/-5), p=0.047). Twins with CHD had a reduced horizontal bone level in comparison with the healthy group (73%versus 78%, p=0.03). Logistic analyses using odds ratio (OR) showed that an increase of one periodontal pocket (> or = 4 mm) resulted in an increased risk for the actual twin of belonging to the CHD group (OR 1.17, p=0.03). CONCLUSIONS: This study indicates worsened periodontal conditions among twins with CHD compared with their siblings with no history of CHD. This strengthens the association between periodontal inflammation and the presence of atherosclerosis. 相似文献
10.
OBJECTIVE: An investigation to determine the changing facial appearance of identical twins. DESIGN: Clinical study. MATERIALS AND METHODS: Two Minolta Vivid 900 3D optical laser scanners were placed as a stereo pair to capture the soft tissues of a pair of identical twins. Each scan took approximately 2.5 s. The scanned whole faces were superimposed to determine changes in facial morphologies at different time intervals. OUTCOME MEASURES: The shell deviations between left and right scans of each patient were recorded and analysed for differences. Furthermore, final merged faces were overlaid to determine the changes in facial morphology over time. RESULTS: The results showed that changes in height and weight correlated with changes in facial morphology. CONCLUSION: The 3D laser scanning device is a clinically useful tool in the study of facial growth and facial morphology in a pair of twins. 相似文献