Objective To discuss the clinical diagnostic and guiding treatment value of changed positions of hyoid bonein the upper airway of patients with obstructive sleep apnea hypopnea syndrome. Methods 128-slice computed tomography was performed for 52 patients with severe OSAHS and 32normal healthy people to measure thehyoid bone in the upper airway in sober state and Muller maneuver. The correlationsbetweenthese indexes were analyzed under linear relation. Results (1)In comparison of the Muller maneuver with sober state , chinnodules and palatal plane to the hyoid in the OSAHS group were statistically higher than the healthy controlgroup (P < 0.001). (2)The distance of hyoid to chinnodules in the OSAHS group was significantlylonger and greater than that of the healthy control group (P < 0.001).(3)The distance of palatal plane to the hyoid was positively correlated with AHI , while thedistances of palatal plane andchinnodules to the hyoidwere both negatively correlated with MSaO2. Conclusion The changes ofhyoid positionare indicative for the clinical diagnosis and is helpful for the guidance of clinical treatment of OSAHS.

OBJECTIVE: To discuss the soft palate, hard palate and mandibule for the pathogenesis and clinical treatment of patients who have obstructive sleep apnea hypopnea syndrome. METHOD: There were 52 patients with OSAHS diagnosed by the PSG and 32 cases of normal healthy volunteers in our hospital. All objects were given 128 slice spiral CT scan of the upper airway. We measured the related indexes of the soft palate, hard palate and mandible, then analysed statistical differences between them and did Pearson correlation analysis with apnea hypoventilation index (AHI), average blood oxygen saturation (MSaO2) in PSG. RESULT: Compared with the control group, the soft palate length [(37.93 ± 5.20)mm VS (33.52 ± 4.25)mm] and the distance between mandible with cervical vertebra [(75.00 ± 7.10)mm VS (69.93 ± 5.58)mm] increased significantly, but the distance of trailing edge of hard palate to inferior margin of slope significantly reduced [(42.57 ± 4.52)mm VS (45.80 ± 2.94)mm, P < 0.01] in patients with OSAHS. Each measurement associated with AHI and MSaO2 had no significant correlation (P > 0.05). CONCLUSION The soft palate, hard palate and mandibular are some of the important risk factors of OSAHS, and they also have reference value for the choice of clinical treatment operation. Preoperative CT examination can offer help in the treatment of OSAHS.
Case-Control Studies ; Humans ; Mandible ; anatomy & histology ; Oximetry ; Palate, Hard ; anatomy & histology ; Palate, Soft ; anatomy & histology ; Sleep Apnea, Obstructive ; diagnosis ; Tomography, Spiral Computed

Objective To evaluate the value of 128-slice CT on locating the obstruction site of the upper airway in obstructive sleep apnea hypopnea syndrome (OSAHS)patients by three-dimensional reconstruction technology.Methods There were 52 patients with OSAHS diagnosed by the PSG and 32 cases of healthy volunteers in our hospital.All objects were performed 128-slice CT scan of the upper airway during awake state,and those patients’upper airways were scaned on Muller test.The airway volume of the ret-ropalatal region,retroglottal region and epiglottal region,and the total length of upper airway were measured,and statistical analysis of the each index was obtained.Results During awake state,compared with the control group,the length of upper airway in OSAHS patients increased significantly(P <0.001).Compared with the awake state,OSAHS patients’airway volume of the retropalatal region, retroglottal region and the total airway volume on the Muller test were reduced significantly(P <0.001).OSAHS patients’upper air-way length was correlated negatively to the average MSaO 2 (r=-0.33,P <0.05).Conclusion The three-dimensional reconstruc-tion of upper airway on 128-slice CT can evaluate the position and degree of the obstruction site in OSAHS patients’upper airway better,which has important significance to guide clinical treatment.

OBJECTIVE: To analyze the intrauterine phenotype and genotype of eight fetuses carrying a 16p11.2 microdeletion. METHODS: 5100 fetuses undergoing routine prenatal diagnosis were subjected to single nucleotide polymorphism-based microarray (SNP-array) analysis. Fetuses harboring a 16p11.2 microdeletion were analyzed for their ultrasonographic characteristics. RESULTS: Eight fetuses were found to harbor a microdeletion in the 16p11.2 region. Among these, six had a typical 500-600 kb deletion, while the remaining two had an atypical 220 kb deletion at the distal part of 16p11.2. Four fetuses showed vertebral malformations, two had mild left ventriculomegaly, one had hydrocephalus, and one had pulmonary valve stenosis with regurgitation. The parents of five fetuses have accepted pedigree verification, and the results confirmed that the 16p11.2 microdeletions carried by fetuses all had a de novo origin. CONCLUSION The intrauterine phenotypes of fetuses carrying a 16p11.2 microdeletion may be variable, and the deletion can be effectively detected with the SNP-array assay.
Chromosome Deletion ; Female ; Fetus ; Genetic Testing ; Humans ; Phenotype ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To analyze the prenatal ultrasonic characteristics and genetic features of 14 fetuses with chromosome 22q11 microdeletion syndrome (22q11DS). METHODS: 4989 fetuses were analyzed by using single nucleotide polymorphism array (SNP array) in the Fujian Maternal and Child Health Hospital from November 2016 to November 2019. RESULTS: SNP array showed that 11 fetuses had classic 3 Mb microdeletion in 22q11 region, one fetus had 2.0 Mb microdeletion, and two fetuses had 1.0 Mb microdeletion. The 1.0 Mb microdeletion in 22q11 region contains SNAP29 and CRKL genes, which may increase the risk of congenital renal malformation and cardiovascular malformation. CONCLUSION Prenatal ultrasonic characteristics of fetuses with 22q11 microdeletion syndrome vary, and SNP array is a powerful tool to diagnose such diseases, which can provide accurate genetic diagnosis and enable prenatal diagnosis.
22q11 Deletion Syndrome/diagnostic imaging* ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics* ; Female ; Fetus ; Genetic Testing ; Humans ; Pregnancy ; Prenatal Diagnosis ; Ultrasonics

A purified polysaccharide with a galactose backbone(SPR-1,Mw 3,622 Da)was isolated from processed Polygonati Rhizoma with black beans(PRWB)and characterized its chemical properties.The backbone of SPR-1 consisted of[(4)-β-D-Galp-(1]9→ 4,6)-β-D-Galp-(1 → 4)-α-D-GalpA-(1 → 4)-α-D-GalpA-(1 →4)-α-D-Glcp-(1 → 4,6)-α-D-Glcp-(1 → 4)-α/β-D-Glcp,with a branch chain of R1:β-D-Galp-(1 → 3)-β-D-Galp-(1 → connected to the →4,6)-β-D-Galp-(1 → via O-6,and a branch chain of R2:α-D-Glcp-(1 →6)-α-D-Glcp-(1 → connected to the →4,6)-α-D-Glcp-(1 → via O-6.Immunomodulatory assays showed that the SPR-1 significantly activated macrophages,and increased secretion of NO and cytokines(i.e.,IL-1β and TNF-α),as well as promoted the phagocytic activities of cells.Furthermore,isothermal titration calorimetry(ITC)analysis and molecular docking results indicated high-affinity binding between SPR-1 and MD2 with the equilibrium dissociation constant(KD)of 18.8 μM.It was suggested that SPR-1 activated the immune response through Toll-like receptor 4(TLR4)signaling and downstream responses.Our research demon-strated that the SPR-1 has a promising candidate from PRWB for the TLR4 agonist to induce immune response,and also provided an easily accessible way that can be used for PR deep processing.

OBJECTIVE: To analyze the ultrasonographic phenotype and result of genetic testing in six fetuses carrying a 17q12 microdeletion. METHODS: Chromosomal microarray analysis (CMA) was carried out for 6200 pregnant women undergoing prenatal diagnosis from December 2016 to May 2021. RESULTS: CMA has identified 6 fetuses with a microdeletion in the 17q12 region, which spanned approximately 1.4 Mb and encompassed at least 13 OMIM genes. All fetuses have shown bilateral renal parenchymal echo enhancement. Four fetuses also had other ultrasonographic phenotypes. The parents of 4 fetuses had refused parental verification, whilst the remaining two fetuses were confirmed to be de novo in origin. CONCLUSION The prenatal ultrasonographic phenotype of 17q12 microdeletion is mainly enhanced bilateral renal parenchymal echos. CMA can facilitate detection of the 17q12 microdeletion.
Female ; Humans ; Pregnancy ; Genetic Testing ; Phenotype ; Fetus/diagnostic imaging* ; Prenatal Diagnosis ; Parents

Objective:To analyze types of mucosal candidiasis and drug resistance of relevant pathogens in a dermatology outpatient clinic in Taiyuan.Methods:Clinical data were collected from 172 patients with mucosal candidiasis, who had positive fungal culture results, in the dermatology outpatient clinic of Shanxi Bethune Hospital from 2019 to 2020. Pathogens were identified by a molecular biological approach, and in vitro drug sensitivity test was performed. Results:Among the 172 patients with mucosal candidiasis, 142 (82.6%) had vulvovaginal candidiasis, 24 (14.0%) had candidal balanoposthitis, and 6 (3.5%) had oral candidiasis; 3 patients were aged ≤ 18 years, 155 were aged 19 - 59 years, and 14 were aged ≥ 60 years, and the proportion of patients with vulvovaginal candidiasis significantly differed among the above 3 age groups (2/3, 134/155[86.45%], 6/14, respectively; χ2 = 14.29, P < 0.05) . Molecular biological identification showed that all the 172 isolated strains belonged to the genus Candida, including 165 strains of Candida albicans (95.9%) , 5 strains of Candida glabrata (2.9%) , and 2 strains of Candida parapsilosis (1.2%) ; the sensitivity to common antifungal agents including flucytosine, amphotericin B, fluconazole, itraconazole and voriconazole was 95.9%, 100.0%, 62.2%, 47.1% and 56.4%, respectively. Conclusion:In the dermatology outpatient clinic of Shanxi Bethune Hospital, vulvovaginal candidiasis was the most common type of mucosal candidiasis, and the main pathogen was Candida albicans; the Candida isolates showed high sensitivity to flucytosine and amphotericin B.