Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence:two case reports and a review of the literature

Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Case presentation: Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed. Conclusions: The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome is extremely rare. This group of patients has unusual phenotypic characteristics. The long-term outcome after treatment of defects is not well reported. A single unifying cause is not known and the etiology probably includes both genetic and non-genetic causes. We stress the importance of future studies to optimized treatment, follow-up, and etiology.</p

Low Temperature Physics

Contains reports on four research projects

Low Temperature Physics

Contains reports on six research projects

Low-Temperature Physics

Contains reports on five research projects

Low-Temperature Physics

Contains reports on eight research projects

Microwave Physics

Contains reports on five research projects

Pengaruh Cara Okulasi Terhadap Tingkat Keberhasilan Perbayakan Tanaman Rambutan (Nephelium lappaceum L.)

Rambutan (Nephelium lappaceum L.) is one type of tropical fruit that is in high demand by the public and is one of the leading agricultural commodities in Indonesia. The development of fruits through plant propagation can be done through asexual propagation combined with sexual means as occurs in grafting propagation. The purpose of this study was to obtain data and information on the best grafting method for the success rate of rambutan plant propagation. The research method used a Randomized Block Design (RAK) with a single factor, namely the grafting method consisting of C1 = top opening window grafting, C2 = bottom opening window grafting, C3 = T cover grafting, C4 = closed window grafting. The study consisted of 4 treatments with 4 replications, where each treatment used 10 plants so that in total there were 160 plants. The results showed that the grafting method did not significantly affect all observed variables. The open-top grafting method gave a higher average live grafting for rambutan plant propagation