Kragkemp7430

oma.After corrective osteotomy of cubitus varus, the lateral condylar prominence is a common problem, which is believed to be due to the unequal relative cuts of the lateral base wedge osteotomy. Therefore, several related solutions have been proposed, such as dome osteotomy and step-cut osteotomies, which solve the above problems to a certain extent. This study aimed to (I) use a modified corpectomy to correct the deformity, and (II) present a new corpectomy method that uses a 3D-printed specific guide with an isosceles triangle osteotomy. A 12-year-old male presented with a -30-degree cubitus varus deformity 5 years after a supracondylar fracture of the right humerus. The degree of correction was determined from the varus angle and the normal carrying angle on the normal side. A rotating isosceles triangle osteotomy was determined by using Mimics software. The accuracy of the osteotomy angle was confirmed by postoperative radiography. The mean postoperative carrying angle was found to be preserved at the 10-month follow-up, with no complications. A rotating isosceles triangle osteotomy with a 3D-printed patient-specific guide may be providing a relative accurate result. However, in order to obtain more rigorous research conclusions, more cases should be added to examine this methodology for bone deformity surgery in the near future.Constrictive pericarditis in children is exceedingly rare, and may cause very problematic confusion of diagnosis and etiology identification. In this case, we examined a 14-year-old female patient who had developed signs of significant anasarca which was eventually turned out to be constrictive pericarditis. Affected by the experience of examiners, the patient was not diagnosed or even suspected with constrictive pericarditis when she was initially examined by echocardiography in the hospital where she visited before. Reexamination of echocardiography, cardiac catheterization and non-invasive image techniques were performed to establish the diagnosis finally. Open pericardectomy was ultimately performed and normal hemodynamic parameters and cardiac function were obtained postoperatively. In the determination of etiology, we inferred that chronic infection induced by local virus infection in the pericardium led to constrictive pericarditis. Parvovirus B19 (PVB19) and/or human herpes virus 6 (HHV-6) were the two most likely viruses involved based on published literature reviews. Importantly, we learned that serological antibody testing may be false-negative and polymerase chain reaction (PCR) or metagenomic next-generation sequencing for pericardial viral nucleic acid testing may be the gold standard for confirmation. Unfortunately, fresh pericardial tissue samples were not taken before paraformaldehyde fixation in our case, which made it impossible for us to detect suspicious viruses. We do hope that the lessons learned from this case will be helpful and instructive for the etiological diagnosis of similar patients in the future.Pearson syndrome (PS), also known as Pearson marrow-pancreas syndrome, is a rare, multi-systemic disorder caused by large-scale deletion of mitochondrial DNA (mtDNA) ranging from 2.3 kb to 9 kb, with 4,977 bp in length as the most common variant. This paper reported a novel mtDNA deletion of 4,734 bp in size, spanning from nucleotide 11,220 to 15,953. The infant suffered from chronic hepatomegaly, liver dysfunction, anemia and lactic acidosis over 1 year. Evidences of any infections were negative. Bone marrow aspiration and whole exome sequencing covering nearly 20,000 nucleus genes were performed when aged 3.3 and 6 months, respectively, but no genetic cause was identified. However, at his age 13 months, multiplex ligation-dependent probe amplification assay of the mtDNA in the patient detected a large deletion of 4,734 bp in size spanning the mitochondrial genes MTND4, MTTH, MTTS2, MTTL2, MTND5, MTND6, MTTE, MTCYB and MTTT which were functionally crucial for the intact oxidative phosphorylation pathway and adenosine triphosphate production, and PS was thus definitely diagnosed. This large deletion was negative in his parents and elder brother. Oral ursodeoxycholic acid, fat-soluble vitamins and blood transfusions were administrated, his clinical and laboratory presentations remained stable so far, but the long-term prognosis needed to be followed up. These findings enriched the variant spectrum of mtDNA, and demonstrated the importance of considering mitochondrial disorder in patient with intractable anemia, liver dysfunction and lactic acidosis as well as the significance of appropriate choosing of relevant genetic tools in the etiology diagnosis of such patients.The study's purpose is to investigate the clinical characteristics and research progress of PURA syndrome. It will also provide new ideas and methods for the diagnosis of neonatal hypotonia etiology. A case of PURA syndrome admitted to Shenzhen Hospital of Peking University was analyzed retrospectively. The keywords "PURA", "PURα", "PURA syndrome", and "5q31" were used to search the Chinese periodical full-text database and Wanfang database. The keywords "PURA", "PURα", "Pur-alpha", "PURA syndrome", and "5q31" were used to search the biomedical literature database (PubMed). VT103 in vitro The Web of Science database and Proquest database were used to find works of literature from the establishment of the database to November 10, 2019. By analyzing the 72 cases of PURA syndrome reported in ten Chinese and international studies, it was found that 57% (21/37) of the patients had a gestational age greater than 41 weeks. Neonatal patients exhibited hypotonia (82%, 59/72), feeding difficulties (97%, 64/66), apnea or primary hypoventilation (57%, 41/72), intrauterine excessive hiccupping (55%, 6/11), and drowsiness (51%, 24/47). After the neonatal period, the pediatric patients demonstrated moderate to severe mental retardation (100%), epilepsy (54%, 29/54), progressive hip dysplasia (17%, 7/42), scoliosis (48%, 11/23), dysphagia and salivation (69%, 25/36), and constipation (60%, 21/35). The clinical manifestations of the present case were consistent with those in the literature reports. It was the first confirmed case at Shenzhen Hospital in the neonatal period and had a de novo mutation. It was difficult to diagnose PURA syndrome in the neonatal period, which might affect multiple systems. In newborns with obvious hypotonia, the evaluation should be expanded to consider other symptoms. Additionally, targeted gene detection should be completed to achieve early diagnosis and intervention, improve the prognosis, and perform genetic counseling.