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Background Neurogenic limb deformity disorder (NLDD) refers to limb deformity disorders caused by various neurogenic disorders. However, there are no studies to systematically summarize and analyze these diseases in China, and we first proposed the concept of NLDD. We describe the epidemiological characteristics of NLDD in China based on the largest case database of limb orthopedics in China. Methods This study analyzed parameters from the Qin Sihe Orthopedic Surgery Case Data (QSHOSCD). The database is based on the Rehabilitation Hospital affiliated to National Research Center for Rehabilitation, which has collected nearly 37,000 patients to date and includes a wide variety of limb deformities. The types of diseases are summarized and classified for all patients studied. Statistical analysis was based on the type of etiology, age, regional distribution, and historical surgical volume. Partial outcomes were statistically analyzed separately by common diseases (polio and cerebral palsy) and rare diseases (37 other diseases). Results From 1979 to 2019, 30,194 patients with NLDD were treated surgically for 39 neurogenic disorders. The male to female ratio was 1.48:1, the mean age was 19.65 years, and most patients (82.38%) were aged between 6 and 30 years. Patients included from 32 provinces and cities across China, mainly concentrated in populous central provinces and Heilongjiang Province. The peak of annual surgical procedures was from 1988 to 1994, and the number of annual surgical procedures for common diseases gradually decreased from 1994 onwards, but the trending is opposite for rare diseases. Conclusions This study is the first to demonstrate the disease types, population characteristics and incidence trends of NLDD in China. It suggests that the prevention and treatment of NLDD should focus on the adolescent population and enhance the treatment of neurogenic diseases that cause limb deformities. The growth and adaption of the Ilizarov technique and its practice in Chinese orthopedic benefits the treatment of neurogenic limb deformity disorders.

Background Fetal cells collected from the amniotic fluid of two pregnant women indicated sex chromosome abnormalities. Therefore, we performed G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array), fluorescence in situ hybridization (FISH), and sequence-tagged sites (STS) analysis of the Y chromosome to determine the rare molecular genetics of the two fetuses. Case presentation The karyotypes of the fetuses from patients 1 and 2 were mos 45,X[92]/46,X,+idic(Y)(q11.21)[8] and mos 45,X[20]/46,X,+idic(Y)(q11.223)[80], respectively. Fetus 1 had a 7.76 Mb deletion in Yq11.222q11.23 and a 15.68 Mb duplication in Yp11.2q11.21. Fetus 2 had 21 Mb of repetitive segments in Yp11.3q11.223. Azoospermia factor (AZF) detection by STS analysis revealed a missing AZFb+c region in fetus 1 and three functional AZF regions in fetus 2. The isodicentric Y chromosome (idic (Y)) in both fetuses arose de novo. The pregnancy of patient 1 was terminated, whereas the fetus of patient 2 was delivered and is now 10 months old with normal appearance and growth. Conclusion A combination of technologies such as chromosome karyotyping, FISH, SNP arrays, and STS analysis of the Y chromosome is important in prenatal diagnosis to reduce birth defect rates and improve the health of the Chinese population.

There is an ongoing debate about whether laparoscopic anti-reflux surgery (LARS) or open anti-reflux surgery (OARS) is the better option for the surgical treatment of gastroesophageal reflux disease (GERD). This study was aimed to evaluate and compare the short- and long-term results of both surgical strategies by means of a systematic review and meta-analysis.A systematic search of electronic databases (PubMed, Embase, The Cochrane Library) for studies published from 1970 to 2013 was performed. All randomized controlled trials (RCTs) that compared LARS with OARS were included. We analyzed the outcomes of each type of surgery over short- and long-term periods.Twelve studies met final inclusion criteria (total n = 1,067). A total of 510 patients underwent OARS and 557 had LARS. The pooled analyses showed, despite of longer operation time, the hospital stay and sick leave were significantly reduced in the LARS group. Significant reductions were also observed in complication rates for the LARS group in both short (odds ratio (OR) 0.31, 95 % CI 0.17 to 0.56) and long-term periods (OR 0.24, 95 % CI 0.07 to 0.80). Although complaints of reflux symptoms were more frequent among LARS patients in the short-term follow-up, LARS achieved better control of reflux symptoms in the long-term period (P 0.05). Reoperation rate, patient's satisfaction, and 24-h pH monitoring were all comparable between the two groups (all P 0.05).LARS is an effective and safe alternative of OARS for the surgical treatment of GERD, which enables a faster convalescence, better control of long-term reflux symptoms, and with reduced risk of complications.