Objective To introduce the method of lengthening the columella of severe secondary bilateral cleft lip nasal deformity by using skin cartilaginous tissue flaps on the superior border of bilateral nostril.Methods We adopted the method of using the skin cartilaginous tissue flaps on the superior border of bilateral nostril associated with alar cartilages reduction to lengthen the columella in 40 patients with severe secondary bilateral cleft lip nasal deformity.All patients were followed up for 5-28 months,with an average period of 15.3 months.The treatment outcomes were evaluated by a questionnaire in postoperative follow-up.Results All the 40 patients had achieved satisfactory lengthening of columella and there were no major complications.The questionnaire results showed 36 patients with excellent and 4 patients with good.Conclusions Lengthening the columella of severe secondary bilateral cleft lip nasal deformity by using skin cartilaginous tissue flaps on the superior border of bilateral nostril is a relatively simple and safe method with good effect.

Objective To evaluate the efficacy of hypofractionated 3DCRT for primary liver cancer(PLC) with portal vein tumor thrombosis(PVTT).Methods Between April 1999 and August 2003,34 PLC patients with PVTT received hypofractionated 3DCRT.The severity of hepatic cirrhosis was 23 in Child-Pugh gradeA and 11 gradeB.The median value of GTV was 773?cm~3(105-2097?cm~3).The radiotherapy regimen consisted of 38-63?Gy in 7-15 fractions with 4-8?Gy per fraction(median value 5?Gy),the treatment was delivered 3 times per week during every other day.Results Having response rate(CR+PR) of 76%(26/34),the overall 1-,2-,and 3-year survival rate at was 36%,19% and 13%,respectively.Conclusion Hypofractionated three-dimensional conformal radiotherapy is effective for primary liver cancer with portal vein tumor thrombosis.

OBJECTIVE: To explore the genetic basis for a pregnant woman with a history of adverse pregnancy outcomes. METHODS: A woman with an adverse history of pregnancies including one fetal demise and two induced abortions due to fetal diaphragmatic hernia and complex cardiac anomalies was selected as the study subject. Muscle tissue from the induced abortus was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing of the couple and other family members. RESULTS: Genetic sequencing revealed that the fetus has harbored a frameshift variant of the KDM6A gene (NM_001291415.2), namely c.1228_1229del (p.Gln410GlufsTer2), which was inherited from the woman and her mother. The variant was unreported previously, and the woman was found to have short stature, sparse eyebrows in the outer third, peculiar facial features, but normal intelligence in addition with female congenital genital malformation, like incomplete vaginal septum, double cervix, double uterus, and unilateral ovary absence. mostly similar phenotypes observed in her mother. CONCLUSION The hemizygous c.1228_1229del variant of the KDM6A gene probably underlay the abnormalities in the fetus. All findings have enabled genetic counseling for this family featuring X-linked inheritance, and the woman had given birth to a healthy girl with appropriate prevention and intervention.
Female ; Humans ; Pregnancy ; China ; Fetus ; Genetic Counseling ; Histone Demethylases/genetics* ; Mutation ; Pedigree