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OBJECTIVE@#To explore the genetic basis for a fetus featuring growth restriction and validate the effectiveness of a novel noninvasive prenatal testing (NIPT) technique for the detection of chromosomal microdeletions.@*METHODS@#Next-generation sequencing(NGS) and fluorescence in situ hybridization(FISH) were used to analyze the DNA of the fetus. Conventional G-banding was used to analyze the karyotypes of the fetus and its parents. High-throughput sequencing was used to analyze free fetal DNA.@*RESULTS@#NGS analysis has revealed a 4.88 Mb deletion at 15q11.2-q13.1 region in the fetus, which has a 99% overlap with the critical region of Prader-Willi syndrome (Type 2) and Angelman syndrome (Type 2) and encompassed critical genes including SNRPN and UBE3A. NIPT also revealed a 4.6 Mb deletion at 15q12, which was consistent with the results of fetal cord blood and amniotic DNA testing. FISH assay has confirmed the result of NGS. By karyotying, all subjects showed a normal karyotypes at a level of 320~400 bands.@*CONCLUSION@#It is quite necessary to carry out genetic testing on fetuses showing growth restriction. NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate for the diagnosis of Prader-Willi/Angelman syndrome.
Assuntos
Feminino , Humanos , Gravidez , Síndrome de Angelman , Bandeamento Cromossômico , Cromossomos Humanos Par 15 , Feto , Hibridização in Situ Fluorescente , Síndrome de Prader-WilliRESUMO
Objective To investigate the expression of thyroid cancer-1 (TC1) and β-catenin in cervical carcinoma and precancerous lesions and their significance. Methods Immunohistochemical methods were used to examine the expression of TC1 and β-catenin in80 cervical squamous cell carcinoma (CSCC) tissues, 40 high-grade squamous intraepithelial lesions (HSIL), 40 low-grade squamous intraepithelial lesions (LSIL), and 30 normal cervical tissues. Results Although TC1 expression in CSCC was significantly higher than that in LSIL (P = 0.002) and normal cervical tissues (P < 0.001), it was similar to that in HSIL (P = 0.576). TC1 expression was positively correlated with poor differentiation (P = 0.005) and advanced FIGO stage (P = 0.004) in CSCC. β-catenin expression in CSCC was significantly higher than that in LSIL (P < 0.001) and normal cervical tissues (P < 0.001), but was similar to that in HSIL (P = 0.907). The abnormal β-catenin expression was also correlated with poor differentiation (P = 0.025) and advanced FIGO stage (P = 0.001) in CSCC. TC1 expression was positively correlated with the abnormal β-catenin expression in CSCC (r = 0.294, P = 0.008) and cervical squamous intraepithelial lesions (r = 0.549, P < 0.001). Conclusion TC1 and β-catenin expression in CSCC and HSIL was significantly higher than that in LSIL and normal cervical tissues. TC1 expression correlated with the abnormal β-catenin expression, and with poor differentiation and advanced FIGO stage of CSCC.
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Objective To evaluate the effectiveness of carboprost methylate suppository for cervical ripening before diagnostic hysteroscopy in premenopausal women. Methods From July 2014 to July 2015, 1614 women who were undergone diagnostic hysteroscopy in 12 hospitals were randomly assigned into study group(n=1209)and control group(n=405). The cases in study group were given 1 mg carboprost methylate suppository in vagina before hysteroscopy, the cases in control group were given 1 mg placebo. The extent of cervical ripening, the time of dilated cervix, pain scoring, incidence of drug side reactions after 24, 48, 72 hours, satisfaction degree of operators and patients, the time of hysteroscopy, incidence of complications between the two groups were observed and compared. Results (1) Mean cervical widths in the study and control groups were 6.11 ± 1.11 and 5.95 ± 1.11, and showed a significant difference(P=0.034);the percentage of women requiring cervical dilatation in study group was lower than the percentage in control group significantly [28.3%(342/1209)versus 34.6%(140/405), P=0.020].(2) The time of dilated cervix in study group was shorter than the time in control group significantly [(34 ± 25) versus(52 ± 49)s, P=0.028] for the patients whose mean cervical widths≤4.(3)There was no significant difference in pain scores between the two groups(P>0.05).(4)The incidence of side reactions 24, 48, 72 hours after operation were no significant difference between the two groups (P>0.05). (5) The satisfaction degree of operators and patients, the time of hysteroscopy, incidence of complications between the two groups were no singnifcant difference between the two groups (all P>0.05). Conclusion Application of carboprost methylate suppository by vagina before hysteroscopy is an effective and safe method of cervical ripening.
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Objective: To investigate the changes of facial soft tissue before and after orthognathic surgery in patients with skeletal Class Ⅲ malocclusion. Methods: Between August 2016 and April 2017, 30 patients with skeletal Class Ⅲ malocclusion who underwent maxillary LeFort Ⅰ osteotomy and sagittal split mandible osteotomy were selected as study subjects. Among them, 11 were male and 19 were female with an average age of 22.6 years (range, 18-35 years). Full head CT scan and facial soft tissue three-dimensional image scan were performed within 2 weeks before surgery and at 6 months after surgery. A three-dimensional facial image model was established using Artec Studio 11.0 and CMF Proplan 3.0 software to analyze the facial soft tissue changes before and after surgery. The soft tissue anatomical landmarks in each area of the face were measured and compared before and after surgery. Results: The area of facial soft tissue change after surgery was the maxillary nose and the lower jaw area, and the two sides did not exceed the vertical boundary of the outer canthus. After surgery, the horizontal points of bilateral alar bases and bilateral cheeks changed significantly ( P<0.05). The sagittal points of subnasale, pronasale, bilateral alar bases, upper lip margin significantly forwarded ( P<0.05); the sagittal points of the bilateral cheilions, lower lip margin, midpoint of chin-lip groove, pogonion, and menton significantly backwarded ( P<0.05). The vertical points of the upper lip margin, bilateral cheilions, lower lip margin, bilateral cheeks, and bilateral inner canthus points significantly descended ( P<0.05), and the vertical point of the menton significantly elevated ( P<0.05). After surgery, the nasal column was significantly shortened, the upper lip got longer and the alar base widened when compared with those before surgery ( P<0.05). Conclusion: The overall change of face after double jaw surgery is shorter and fuller, and the mandible of facial soft tissue change is larger than that of maxillary, which suggests that the postoperative facial changes should be taken into account in the surgical design.