Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review

2019 ◽  
Vol 62 (10) ◽  
pp. 103713 ◽  
Author(s):  
Chao Wang ◽  
Dong Li ◽  
Fengying Cai ◽  
Xinjie Zhang ◽  
Xiaowei Xu ◽  
...  
2021 ◽  
Author(s):  
Christine Prodinger ◽  
Subhanitthaya Chottianchaiwat ◽  
Jemima E. Mellerio ◽  
John A. McGrath ◽  
Linda Ozoemena ◽  
...  

2019 ◽  
Vol 24 (5) ◽  
pp. 549-557
Author(s):  
Malia McAvoy ◽  
Heather J. McCrea ◽  
Vamsidhar Chavakula ◽  
Hoon Choi ◽  
Wenya Linda Bi ◽  
...  

OBJECTIVEFew studies describe long-term functional outcomes of pediatric patients who have undergone lumbar microdiscectomy (LMD) because of the rarity of pediatric disc herniation and the short follow-up periods. The authors analyzed risk factors, clinical presentation, complications, and functional outcomes of a single-institution series of LMD patients over a 19-year period.METHODSA retrospective case series was conducted of pediatric LMD patients at a large pediatric academic hospital from 1998 to 2017. The authors examined premorbid risk factors, clinical presentation, physical examination findings, type and duration of conservative management, indications for surgical intervention, complications, and postoperative outcomes.RESULTSOver the 19-year study period, 199 patients underwent LMD at the authors’ institution. The mean age at presentation was 16.0 years (range 12–18 years), and 55.8% were female. Of these patients, 70.9% participated in competitive sports, and among those who did not play sports, 65.0% had a body mass index greater than 25 kg/m2. Prior to surgery, conservative management had failed in 98.0% of the patients. Only 3 patients (1.5%) presented with cauda equina syndrome requiring emergent microdiscectomy. Complications included 4 cases of postoperative CSF leak (2.0%), 1 case of a noted intraoperative CSF leak, and 3 cases of wound infection (1.5%). At the first postoperative follow-up appointment, minimal or no pain was reported by 93.3% of patients. The mean time to return to sports was 9.8 weeks. During a mean follow-up duration of 8.2 years, 72.9% of patients did not present again after routine postoperative appointments. The total risk of reoperation was a rate of 7.5% (3.5% of patients underwent reoperation for the same level; 4.5% underwent adjacent-level decompression, and one patient [0.5%] ultimately underwent a fusion).CONCLUSIONSMicrodiscectomy is a safe and effective treatment for long-term relief of pain and return to daily activities among pediatric patients with symptomatic lumbar disc disease in whom conservative management has failed.


2020 ◽  
Vol 67 (12) ◽  
Author(s):  
Maha Al‐Ghafry ◽  
Banu Aygun ◽  
Abena Appiah‐Kubi ◽  
Adrianna Vlachos ◽  
Gholamabbas Ostovar ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document