Objective:To understand the security status of newborn fathers and analyze its related factors.Methods:A total of 256 fathers(aged 22-49 years old)of newborns born within 1 week were select-ed.They were assessed with the self-designed general information questionnaire,Parents'Postnatal Sense of Securi-ty(father version),Emotional Inhibition Scale,and Marriage Satisfaction Subscale of Enrich Marital Inventory.Results:The average score of security was(36.0±4.4).Multiple linear regression analysis showed that the security scores were positively correlated with residence area(β=0.35),education level(β=0.25),preterm birth(β=0.11)and the marital satisfaction scores(β=0.25);and were negatively associated with daily crying time(β=-0.28)and the EIS scores(β=-0.18).Conclusion:The sense of security of postpartum fathers is moderate,and it is associated with residence area,education level,preterm birth,marital satisfaction,daily crying time and emotional inhibition.

Objective:To explore the clinical efficacy of Masquelet technique combined with tissue flap transfer in the treatment of infectious composite bone and soft tissue defects in the early and middle stages after internal fixation for tibial fractures.Methods:From October 2017 to November 2020, 12 patients (13 tibial fractures) with infectious bone and soft tissue defects in the early and middle stages after internal fixation were treated in the Department of Orthopaedics, 988th Hospital of the Joint Logistics Support Force of CPLA by two-phased surgery with retaining internal fixation. Phase I procedures were thoroughly removal of the infected lesions and failed screws, preserving internal implants as many as possible, implantation of absorbable calcium sulphate and an antibiotics blended string of beads into the distal and proximal medullary cavity of the fractured bones, filling the bone defect and wrapping the internal implants with antibiotics loaded bone cement. The size of defects was 3.5 cm × 5.0 cm-7.5 cm × 14.5 cm, and the flaps for wound coverage sized 4.0 cm × 5.5 cm-8.0 cm × 15.0 cm. As for the repair of donor site, 8 limbs were sutured directly, 5 limbs could not be closed completely, and the remaining wounds were covered by skin grafting after suture. Based on well control of infection and stable clinical signs, fillings of bone cement were then removed in Phase II surgery, or 6-9 weeks after primary surgery. Autologous cancellous bone pieces or composite allogeneic bone were fully implanted around the induction membrane formed by Masquelet technique, and auxiliary steel plates were implanted for internal fixation of unstable fractures. After discharge, the patients visited the outpatient clinic regularly, and combined with Wechat follow-up. The texture, colour and bone healing were observed. At the last follow-up, the function of the affected limbs were assessed according to Johner-Wruhs evaluation standard.Results:After Phase I surgery, 13 flaps survived smoothly without vascular compromise. The wounds healed in Phase I. Two patients (2 sides) had recurrent infections. Re-debridement was performed and external fixation was applied after removal of internal fixation. After Phase II surgery, all patients were included in 12-26 months of follow-up, with an average of 18 months. Thirteen lower leg fractures healed well, and the time of bone healing was 16-25 (average 19.5) weeks. The Johner Wruhs criteria was used in evaluation of the function of affected limbs, and it was found that 6 patients were in excellent, 5 in good and 2 in fair.Conclusion:It is feasible while preserving the internal implants, to use membrane induction technique (Masquelet technique) combined with flap transfer, together with the absorbable calcium sulphate antibiotic sustained-release beads as a carrier in the phased treatment of infectious bone defects and bone exposure in the early and middle stages after the surgery of tibial internal fixation. It also gives a higher rate of excellence in surgical outcome. This study explores a treatment procedure for traumatic bone infection combined with composite soft tissue defects.

OBJECTIVE: To explore the clinical features and genetic etiology of a child with glycogen storage disease VI (GSD-VI). METHODS: Clinical data and laboratory results of the patient were collected. Whole exome sequencing (WES) was carried out for the patient. Candidate variant and its parental origin was verified by Sanger sequencing. RESULTS: The patient was a 3-year-and-9-month old boy whom has featured abdominal distention, hepatomegaly, short stature and elevated hepatic transaminase. WES revealed the he has harbored compound heterozygous variants of the PYGL gene, namely c.697G>A (p.Gly233Ser) and c.320dupA (p.Asn107fs). Sanger sequencing has verified that the two variants have derived from his father and mother, respectively. The c.320dupA (p.Asn107fs) variant was unreported previously. CONCLUSION The compound heterozygous variants of the PYGL gene probably underlay the GSD-VI in this patient. Above finding has enriched the spectrum of PYGL gene variants and provided a basis for the treatment and genetic counseling.
Child ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Infant ; Male ; Mutation ; Transaminases/genetics* ; Exome Sequencing

Objective:To investigate the surgical method and clinical value of free medial sural artery perforator (MSAP) flap for repairing the wound of toe.Methods:The patients with isolated toe skin defects admitted to the Department of Trauma Microsurgery of No.988 Hospital of Joint Logistics Support Force were treated with MSAP flap for wound repair from June 2014 to December 2018. All the donor site were closed primarily. After the operation, the appearance, texture, hair growth and functional recovery of donor and recipient sites were observed through regular follow-up in outpatient or WeChat.Results:A total of 11 cases were enrolled, including 7 males and 4 females, aged from 19 to 44 years, with an average of 31.3 years. The wound sites were located at the first toe in 8 cases, the second toe in 2 cases, and the fourth toe in 1 case. The size of the skin defects was from 2.2 cm×1.8 cm to 5.7 cm×3.8 cm, the primary repair was performed in 4 cases and secondary repair in 7 cases, and the flaps ranged from 2.6 cm×2.1 cm-6.1 cm×4.2 cm. Ten cases survived successfully, and the wounds healed primarily. One case had local necrosis at the distal end of the flap, the wound healed after secondary repair surgery. All patients were followed-up from 6 to 18 months. The appearance of flaps was good in 9 cases and slightly swollen in 2 cases. All flaps had good texture, no discomfort of wearing shoes, no obvious influence on walking, and linear scar remained in the donor area. Three cases were treated with laser hair removal because of the flap hair growth.Conclusions:The method of using a free MSAP flap to repair the small toe wound can restore its appearance to satisfaction and achieve a good aesthetic repair effect.

Objective:To carry out genetic analysis for a family with a fetus manifesting micrognathia and a previous history for fetal micromandibular deformity.Methods:Systematic ultrasound examination was carried out for the fetus, and the prenatal and postnatal phenotype of the first fetus were retrospectively analyzed. The fetus and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Candidate variants were verified by Sanger sequencing.Results:Fetal ultrasound has indicated micrognathia. The first fetus was found to have micrognathia by prenatal ultrasonography and have featured macrosomia and dyspnea due to with tongue retraction, high palatal arch and small mandibular deformity. WES revealed that the fetus has a harbored a c. 3G>C (p.Met1? ) variant of the COL2A1 gene, which was inherited from the father who had myopia and retinal detachment. Conclusion:Stickler syndrome is mainly characterized prenatally by micrognathia, in addition with a variety of postnatal anomalies. The c. 3G>C (p.Met1? ) variant probably underlay the Stickler syndrome in this pedigree.

Objective:To investigate the surgical method and clinical value of free medial sural artery perforator (MSAP) flap for repairing the wound of toe.Methods:The patients with isolated toe skin defects admitted to the Department of Trauma Microsurgery of No.988 Hospital of Joint Logistics Support Force were treated with MSAP flap for wound repair from June 2014 to December 2018. All the donor site were closed primarily. After the operation, the appearance, texture, hair growth and functional recovery of donor and recipient sites were observed through regular follow-up in outpatient or WeChat.Results:A total of 11 cases were enrolled, including 7 males and 4 females, aged from 19 to 44 years, with an average of 31.3 years. The wound sites were located at the first toe in 8 cases, the second toe in 2 cases, and the fourth toe in 1 case. The size of the skin defects was from 2.2 cm×1.8 cm to 5.7 cm×3.8 cm, the primary repair was performed in 4 cases and secondary repair in 7 cases, and the flaps ranged from 2.6 cm×2.1 cm-6.1 cm×4.2 cm. Ten cases survived successfully, and the wounds healed primarily. One case had local necrosis at the distal end of the flap, the wound healed after secondary repair surgery. All patients were followed-up from 6 to 18 months. The appearance of flaps was good in 9 cases and slightly swollen in 2 cases. All flaps had good texture, no discomfort of wearing shoes, no obvious influence on walking, and linear scar remained in the donor area. Three cases were treated with laser hair removal because of the flap hair growth.Conclusions:The method of using a free MSAP flap to repair the small toe wound can restore its appearance to satisfaction and achieve a good aesthetic repair effect.

OBJECTIVE: To detect gene inversion in two pedigrees affected with Hemophilia A by using Nanopore sequencing technology. METHODS: Peripheral blood samples were taken from members of the two pedigrees. Following extraction of genome DNA, genetic variants of the carriers were detected by Nanopore sequencing and subjected to bioinformatic analysis. RESULTS: Nanopore sequencing has identified the niece of the proband of the pedigree 1 as carrier of Hemophilia A Inv22, and the mother of the proband of the pedigree 2 as carrier of Hemophilia A Inv1, which was consistent with clinical findings. Breakpoint sites in both pedigrees were accurately mapped. Statistical analysis of the sequencing results revealed a large number of variations in the carriers' genomes including deletions, duplications, insertions, inversions and translocations. CONCLUSION Nanopore sequencing can be used to analyze gene inversions associated with Hemophilia A, which also provided a powerful tool for the diagnosis of diseases caused by gene inversions.
Chromosome Inversion/genetics* ; Hemophilia A/genetics* ; Humans ; Introns ; Nanopore Sequencing ; Pedigree

OBJECTIVE: To review the clinical data of a fetus with false positive result of non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM). METHODS: Amniotic fluid sample was taken from a pregnant women with high risk for chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic testing was also conducted on the fetal and maternal surface of the placenta, root of umbilical cord and fetal skin tissue after induced abortion. RESULTS: Cytogenetic analysis of the amniotic fluid sample yielded a normal karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, while the analysis of fetal skin tissue yielded a negative result. CONCLUSION CPM is an important factor for false positive NIPT result. Prenatal identification of CPM and strengthened pregnancy management are important to reduce adverse pregnancy outcomes.
Amniocentesis ; Chromosomes, Human, Pair 16/genetics* ; Cytogenetic Analysis ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Molecular Biology ; Mosaicism ; Placenta ; Pregnancy ; Prenatal Diagnosis ; Trisomy/genetics*

OBJECTIVE: To delineate chromosomal aberration caused by structural chromosomal abnormalities with bionano optical mapping. METHODS: Chromosomal karyotyping, bionano optical mapping and copy number variation sequencing (CNV-seq) were used to delineate the chromosomal aberration carried by a patient. RESULTS: The patient was found to have an anomalous chromosome 16 by karyotyping analysis, which was verified by bionano optical mapping and CNV-seq as loss of heterozygosity at 16p11.2-p12.2. CONCLUSION Bionano optical mapping has provided a novel tool for the detection and diagnosis of structural chromosomal aberrations.

Objective To investigate the clinical effect of lateral supramalleolar perforator flap with the rotation point down on the repair of forefoot soft tissue defect.Methods From January,2016 to June,2017,23 cases (15 males and 8 females) of forefoot soft tissue defect were repaired by lateral supramalleolar perforator flap with the rotation point down.The age ranged from 8 to 67 (mean,42.9) years.The soft tissue defects were located far from the tarsometatarsal joint of the foot and the areas were 4.0 cm×4.0 cm-8.0 cm×12.0 cm.The areas of flap stitched directly or take blade thick skin repair on the thigh.All cases were followed-up by telephone or Internet,outpatient visit and home visit.Results Twenty-one cases survived successfully.Small area necrosis occurred at the distal end of the flap in 1 case,and healed after changing treatment.In the other cases,tension blister appeared at the distal end of the flap.After cut off some surgical stitches,the flap survived.All cases were followed-up from 6 to 12 months.The shape of flaps were not bloated and had good textures.The walking of affected limbs had no significant effect,and the functional recovery was satisfactory.Conclusion The lateral supramalleolar perforator flap is easy to cut and the perforator of flap is constant,which is a appropriate flap to repair the soft tissue defect of the forefoot.