OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.

PURPOSE: In this study, we identified and diagnosed a novel inherited condition called Dyschromatosis, Ichthyosis, Deafness, and Atopic Disease (DIDA) syndrome. We present a series of studies to clarify the pathogenic variants and specific mechanism. METHODS: Exome sequencing and Sanger sequencing was conducted in affected and unaffected family members. A variety of human and cell studies were performed to explore the pathogenic process of keratosis. RESULTS: Our finding indicated that DIDA syndrome was caused by compound heterozygous variants in the oxysterol-binding protein-related protein 2 (OSBPL2) gene. Furthermore, our findings revealed a direct interaction between OSBPL2 and Phosphoinositide phospholipase C-beta-3 (PLCB3), a key player in hyperkeratosis. OSBPL2 effectively inhibits the ubiquitylation of PLCB3, thereby stabilizing PLCB3. Conversely, OSBPL2 variants lead to enhanced ubiquitination and subsequent degradation of PLCB3, leading to epidermal hyperkeratosis, characterized by aberrant proliferation and delayed terminal differentiation of keratinocytes. CONCLUSIONS: Our study not only unveiled the association between OSBPL2 variants and the newly identified DIDA syndrome but also shed light on the underlying mechanism.

Aligned cryogel fibers incorporated 3D printed scaffold effectively facilitates bone regeneration by enhancing cell recruitment and function.

Reconstructing extensive cranial defects represents a persistent clinical challenge. Here, we reported a hybrid three-dimensional (3D) printed scaffold with modification of QK peptide and KP peptide for effectively promoting endogenous cranial bone regeneration. The hybrid 3D printed scaffold consists of vertically aligned cryogel fibers that guide and promote cell penetration into the defect area in the early stages of bone repair. Then, the conjugated QK peptide and KP peptide further regulate the function of the recruited cells to promote vascularization and osteogenic differentiation in the defect area. The regenerated bone volume and surface coverage of the dual peptide-modified hybrid scaffold were significantly higher than the positive control group. In addition, the dual peptide-modified hybrid scaffold demonstrated sustained enhancement of bone regeneration and avoidance of bone resorption compared to the collagen sponge group. We expect that the design of dual peptide-modified hybrid scaffold will provide a promising strategy for bone regeneration.

Preparation, characterization, and release properties of Rosa roxburghii Tratt seed oil and ß-carotene-coloaded proliposomes.

Rosa roxburghii Tratt seed oil (RSO) and ß-carotene (ßC) were chosen to prepare proliposomes by the thin-film dispersion method. The characteristics of unloaded proliposome, RSO proliposome (L-R), ßC proliposome (L-ß), and RSO/ßC proliposome (L-R-ß) were analyzed, and their antioxidant activity, storage stability, and release properties were investigated. The proliposomes had an encapsulation efficiency (RSO, ßC) higher than 83.10%, nanometer size, smooth surface, and irregular structure. L-R-ß showed better dispersibility, stability, and antioxidant activity than L-R and L-ß. Simultaneous encapsulation of RSO and ßC reduced the phospholipid oxidation of proliposomes and improved the retention rate of RSO in storage environments of 4, 25, and 40°C. Moreover, the RSO and ßC release kinetics of proliposomes in the simulated saliva fluid and gastric fluid phases can be described by the first-order model, and the Korsmeyr-Peppas method was applied to describe their release mechanism in the simulated intestinal fluid phase.

Transcriptome analysis of hepatic injury caused by delayed resuscitation following severe burns in rats.

BACKGROUND: Delayed resuscitation (DR) can induce hepatic reperfusion injury after severe burns. The underlying molecular mechanisms of DR-induced hepatic injury remain unidentified. This study sought to predict candidate genes and molecular pathways in a DR-induced hepatic injury preclinical model. METHODS: Rats were randomized into three groups: the sham injury (Sham) group; the DR group, which had third-degree burns covering 30% of the body surface area and DR; and the early resuscitation (ER) group, in which ER was administered. The liver tissue was harvested for the purpose of evaluating hepatic injury and performing transcriptome sequencing. Differentially expressed genes (DEGs) for DR versus Sham and ER versus DR were analyzed respectively. Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, and Ingenuity Pathway Analysis were used. The DEGs and critical module genes were intersected to obtain critical genes. Immune infiltration and competing endogenous RNA networks were also analyzed. Validation was conducted using quantitative real-time polymerase chain reaction. RESULTS: Hepatic injury was evident in DR rats. There were 2,430 DEGs between DR and Sham and 261 DEGs between ER and DR. Differentially expressed genes were mostly enriched in metabolic process for DR versus Sham, and immune and inflammatory processes for ER versus DR. Four critical genes (Tff3, C1galt1, Cd48, and MGC105649) were obtained by screening. Five immune cells were significantly different between DR and Sham, and seven immune cells were significantly different between ER and DR in immunoassays. Three critical genes, 75 miRNAs, 7 lncRNAs, and 197 edges constituted the mRNA-miRNA-lncRNA linkages, which included C1galt1-rno-miR-330-5p-Pvt1, among others. CONCLUSION: This is the first attempt to perform a high-throughput analysis of gene expression profiles in DR-induced hepatic injury. It shows that immunity and inflammation-related RNAs and pathways play an important role in the progression of hepatic injury. It also provides insight into some important RNAs and regulatory targets related to disease.

A Case of Paradoxical Reactions to Biologic Therapy for Psoriasis.

Introduction: Psoriasis is an immune-mediated chronic inflammatory skin disease. As our understanding of the pathogenesis of psoriasis has improved, biologic agents have become increasingly important in the treatment of psoriasis. However, the use of biologic agents is associated with cutaneous side effects. A new type of side effect called paradoxical reactions is an emerging threat arising from the increasing use of biologic agents. Case: Here, we present a case of paradoxical skin reactions - pyoderma gangrenosum (PG) and eczema - induced by biologic therapy. The case was successfully and eventually treated with baricitinib. Discussion: PG is a rare inflammatory disease characterised by painful and necrotic ulcerations containing neutrophils. It has been associated with autoimmune diseases such as inflammatory bowel disease (IBD). TNF (tumor necrosis factor) -α inhibitors can effectively treat refractory PG, while IL (interleukin) -17A inhibitors may worsen IBD symptoms. The cause of PG in this case was believed to be secukinumab, not adalimumab. The patient was diagnosed with eczematous dermatitis due to TNF-α inhibitors, and baricitinib was added to treat eczematous dermatitis. Conclusion: Paradoxical reactions are unpredictable events that may occur during treatment with biologics at anytime. They need further research in order to formulate personalised treatment.

Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.

Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counselling. Lanosterol synthase (LSS) gene encodes LSS involved in the biosynthesis pathway of cholesterol. Biallelic mutations in LSS were found to be related to diseases such as cataracts, hypotrichosis and palmoplantar keratoderma-congenital alopecia syndrome. The aim of this study was to investigate the contribution of the LSS mutation to mutilating PPK in a Chinese patient. The clinical and molecular characteristics of the patient were evaluated. A 38-year-old male patient with mutilating PPK was recruited in this study. We identified biallelic variants in the LSS gene (c.683C > T, p.Thr228Ile and c.779G > A, p.Arg260His). Immunoblotting revealed that the Arg260His mutant showed a significantly reduced expression level while Thr228Ile showed an expression level similar to that of the wild type. Thin layer chromatography revealed that mutant Thr228Ile retained partial enzymatic activity and mutant Arg260His did not show any catalytic activity. Our findings show the correlation between LSS mutations and mutilating PPK.

The Epidermal Barrier Structure and Function of Re-Harvested Skin from Non-Scalp Donor Sites.

AIM: The aim of this study was to explore the epidermal barrier structure and function of re-harvested skin from non-scalp donor sites. METHODS: Six patients with large-area deep burns who met the inclusion and exclusion criteria were subjected to split-thickness skin excision three times on the same healthy non-scalp donor sites, with an interval of 14 days. The donor skin thus harvested was labeled as primary skin (S1), secondary skin (S2), and tertiary skin (S3). The transepidermal water loss (TEWL) and stratum corneum water content (SCH) of donor skin were detected before each surgery, and the donor skin was harvested during the surgery. The donor skin was stained with hematoxylin and eosin (HE) and involucrin, loricrin, filaggrin, small molecule proline-rich protein 3 (SPRR3), ZO-3, JAM-A, and JAM-C, or observed by transmission electron microscopy. RESULTS: The epidermal barrier function of the re-harvested skin from the non-scalp donor sites became impaired. The histopathological structure of the re-harvested skin from non-scalp donor sites became abnormal. The barrier of the epidermal stratum corneum of the re-harvested skin from non-scalp donor sites was damaged. The epidermal tight junction barrier in the re-harvested skin from non-scalp donor sites was damaged. CONCLUSIONS: As the number of harvesting increases, the epidermal barrier function of the skin decreased, and the damage to the barrier structure increased. Hence, it is vitally important to restore the epidermal barrier function for re-harvesting in non-scalp donor sites.

A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita.

Purpose: Dyskeratosis congenita (DC) is an inherited telomere biology disorder characterized clinically by mucocutaneous triad of reticulate hyperpigmentation, nail changes and oral leukoplakia. Bone marrow failure, pulmonary fibrosis and malignancies are the mainly life-threatening causes. There are X-linked recessive, autosomal dominant and autosomal recessive patterns of DC. DKC1 is the most common pathogenic mutation gene responsible for X-linked DC, and it encodes a protein, dyskerin, which is a component of telomerase holoenzyme complex essential for telomere maintenance. Patients with DC have very short telomeres, but the precise pathogenic mechanism remains unclear. This study aimed to identify the causative mutations in the DKC1 gene in three Chinese families with the X-linked form of DC. Patients and Methods: Three Chinese families with DC were included in this study. Whole exome sequencing and Sanger sequencing were performed to clarify the mutation of DKC1 gene. Measurement of relative telomere length through qPCR. Predictions of protein structure and function were performed using bioinformatics tools, including I-TASSER, Polyphen-2 and SIFT. Results: There were four males with DC and a female carrier in three Chinese pedigrees. The novel mutation c.92A>C (p. Q31P) and the missense mutation c.1058C>T (p. A353V) in DKC1 were identified. Both mutations locally changed the structure of dyskerin. Variant Q31P and A353V were predicted to have "deleterious" and "natural" effects on the function of dyskerin, respectively. Conclusion: The novel variant and missense variant detected in the DKC1 gene improve our understanding of DC and broaden the mutation spectrum of the DKC1 gene.

Tideglusib promotes wound healing in aged skin by activating PI3K/Akt pathway.

BACKGROUND: Aging disturbs the skin morphology and function, manifested as thinned epithelium and impaired wound healing. As a major type of skin cells, epidermal stem cells (EpiSCs) are inevitably affected by aging. The effect of age on EpiSCs and wound healing needs to be further explored. METHODS: Skin RNA-seq data of young (5 months) and old (30 months) CB6F1 mice were obtained from GEO Series GSE35322 with 10 in each age group. Differentially expressed genes were analyzed, and EpiSCs-related pathways were enriched by KEGG. The age-related changes of the screened PI3K/Akt pathway were validated by Western Blot and immunofluorescence of epidermis of SD rats (2, 17, and 23 months, n = 6). The expression of upstream protein EGFR was assessed by immunofluorescence in skin of mice (4, 13, and 23 months, n = 6) and human (respectively, 23, 28, 30 years old in the young group and 69, 73, 78 years old in the old group) skin. Inhibitors of EGFR were used to verify its effects on EpiSCs and wound healing. The small molecule drug Tideglusib was tested for its effects on signaling pathways of EpiSCs and wound healing of aged rats. Western Blot was used for the detection of signaling pathways in in vitro experiments. Cell migration assays were used to assess cell migration ability. Flow cytometry was used to detect changes in cell cycle and apoptosis levels. Sulforhodamine B assay and CCK-8 assay were used to evaluate cell proliferation and viability, respectively. Student's t test and one-way analysis of variance (ANOVA) followed by the multiple comparisons Bonferroni test were used for statistical analysis. The 0.05 level of confidence was accepted as a significant difference. RESULTS: EpiSCs-related PI3K/Akt pathway was enriched by KEGG and verified by decreased phosphorylation of Akt (32.1 ± 13.8%, P < 0.01) and mTOR (38.9 ± 11.8%, P < 0.01) in aged epidermis of rats. Furthermore, the expression of PI3K/Akt-upstream EGFR decreased with age in the epidermis of mouse (27.6 ± 5.5%, P < 0.01) and human (25.8 ± 9.3%, P < 0.01). With EGFR blocked by Erlotinib, EpiSCs showed reduced phosphorylation of Akt (30.4 ± 10.6%, P < 0.01) and mTOR (39.8 ± 12.8%, P < 0.01), impaired proliferation and migration after incubated for 24 h and 36 h (P < 0.05), and higher levels of apoptosis (11.9 ± 1.7%, P < 0.05), and rats showed slower wound healing from d7 to d14 after wounding (P < 0.01). In addition to slower wound healing rates, aged rats also showed a decrease in the efficacy of EGF, partly due to the downregulated EGFR expression. By activating PI3K/Akt pathway, Tideglusib promoted the proliferation and migration of EpiSCs with apoptosis inhibited (P < 0.01) and accelerated wound healing in aged rats from d7 to d14 after wounding (P < 0.05). Notably, the combined use of Tideglusib and EGF could further enhance wound healing in aged rats. CONCLUSIONS: The decreased expression of EGFR in epidermis with age resulted in decreased activity of the PI3K/Akt pathway and limited EGF efficacy. Tideglusib could assist wound healing in aged rats via activating PI3K/Akt pathway, which may be considered as an ingredient for medical and cosmetics use.

High frequency ultrasound features and pathological characteristics of medullary thyroid carcinoma.

To study high-frequency ultrasound features and pathological characteristics of medullary thyroid carcinoma (medullary thyroid carcinoma, MTC) with the purpose to improve the diagnostic accuracy of this disease. The clinical data of 20 cases of patients with MTC confirmed by the clinical surgery were retrospectively analyzed. And the high-frequency ultrasound features were analyzed and compared with the pathological characteristics. There were 16 cases with tumor invasion into one side of the thyroid gland; 17 cases with tumor in the middle-upper pole of the thyroid gland. And 8 cases were detected with uneven echo of high frequency ultrasound appearance and pathological manifestations of cystic degeneration to necrosis seen under the light microscope or normal thyroid tissue within part of the lump. 16 cases were tested with even echo of high frequency ultrasound appearance, and tumor cells were formed in the solid and block-like shape under the light microscope. And 18 cases were manifested with low echo, with proliferation of fibrous tissue within the intercellular substance under the light microscope. 18 cases could be seen the calcification points and often amyloid-like content deposited in the intercellular substance seen under the light microscope. In addition, the pathological manifestations of the 8 cases combined with lymph node metastasis were the "lash tumor" of the metastatic lymph nodes and primary tumor. MTC was commonly located in the middle-upper region of the thyroid gland and in one leaf of the thyroid gland, combined with lymph node metastasis. The high frequency ultrasound appearance was the even low-echo tumor in round or quasi-circular shape, with obscure boundary and often combined with rough calcification. High frequency ultrasound could be used as the prior physical diagnostic method for medullary thyroid carcinoma.

[Value of second trimester maternal serum sFlt-1, PlGF and their ratio in the prediction of preeclampsia].

OBJECTIVE: To study the value of second trimester maternal serum soluble Fms-like tyrosine kinase 1 (sFlt-1), placenta grouth factor (PlGF) and their ratio in the prediction of preeclampsia. METHODS: In this nested case-control study, we collected second trimester maternal serum samples at 15-20 weeks and 24-28 weeks of gestation from those who developed gestational hypertensive disorders. Maternal serum sFlt-1 and PlGF were measured by electrochemiluminescence immunoassay on an automated platform. The value of sFlt-1, PlGF and their ratio were compared between gestational hypertensive group and the control group. RESULTS: Totally 41 patients with preeclampsia, 44 patients with gestational hypertension and 88 women with normal pregnancy outcomes were included in this study. There was no difference of age, gravidity, parity and preconception body mass index (BMI) between these three groups (P > 0.05) .Gestational week at delivery and neonatal birth weight were different between preeclampsia group and the control group (P < 0.01). The mean value of sFlt-1, PlGF and sFlt-1/PlGF ratio was (1 658 ± 488) µg/L, (141 ± 80) µg/L and 17 ± 9 in preeclampsia group, (1 945 ± 575) µg/L, (143 ± 52) µg/L and 15 ± 6 in gestational hypertension group, and (2 084 ± 741) µg/L, (65 ± 58) µg/L and 16 ± 9 in the control group at 15-20 weeks of gestation. There was no difference of sFlt-1, PlGF value and their ratio among the three groups at 15-20 weeks of gestation (P > 0.05) . The median value of sFlt-1, PlGF and sFlt-1/PlGF ratio were 8 525 µg/L, 35 µg/L and 398.0 in preeclampsia group, 905 µg/L, 336 µg/L and 2.7 in gestational hypertension group, 1 028 µg/L, 477 µg/L and 2.3 in the control group at 24-28 weeks of gestation. The value of sFlt-1, PlGF and their ratio was significantly different between preeclampsia group and the control group at 24-28 weeks of gestation (P < 0.01) . PlGF value was different between gestational hypertension group and the control group (P < 0.01) . The sensitivity and specificity of serum sFlt-1, PlGF and sFlt-1/PlGF ratio at 24-28 weeks of gestation to predict preeclampsia were 93% and 99% for sFlt-1 (cut off value 2 500 µg/L), 92% and 77% for PlGF (cut off value 270 µg/L) , 89% and 99% for sFlt-1/PlGF ratio (cut off value 11) . CONCLUSION: The value of sFlt-1, PlGF and their ratio at 24-28 weeks of gestation was significantly changed before clinical onset of preeclampsia.Use these serum indicators to predict preeclampsia will hopefully provide objective evidence for the management of patients who will develop preeclampsia later.

[Clinical analysis of pregnancies after vaginal radical trachelectomy].

OBJECTIVE: To explore the pregnancy outcome and obstetric management of pregnancy and delivery after vaginal radical trachelectomy (VRT). METHODS: Forty-two cases of VRT from December 2003 to May 2012 in Peking Union Medical College Hospital were analyzed retrospectively. Among them ten cases got pregnant successfully. RESULTS: The average age of patient at VRT surgery was (30.6 ± 3.7) years old and average follow-up time was 29.5 months. There were 31 patients attempted conception. Ten of them got fourteen conceptions successfully. Overall conception rate was 45% (14/31). There were four cases of first trimester abortion. Among them, two were miscarriage, two were elective abortion. There was one case of ectopic pregnancy operation and non of second trimester loss. Nine cases reached the third trimester. The total preterm delivery rate was 4/9. There were two cases delivered before 32 gestational weeks (2/9). Cesarean section was performed through a transverse incision in all of nine cases. No uterine rupture and postpartum hemorrhage occurred. All newborns had good outcomes. The average follow-up time after postpartum was 22.9 months. All cases were disease-free. CONCLUSIONS: The conception rate of patients after VRT in our series is 45%. The preterm birth rate of pregnancy after VRT is higher. Routine cerclage of cervix during VRT procedure and pregnancy is not necessary. Cesarean section shortly after full term pregnancy through a transverse incision should be considered as a suitable and safe procedure.

Pregnancy outcomes of repeat cesarean section in Peking Union Medical College Hospital.

OBJECTIVE: To evaluate the effect of elective repeat cesarean section on the maternal and neonatal outcomes. METHODS: A retrospective clinic- and hospital-based survey was designed for comparing the maternal and neonatal outcomes of elective repeat cesarean section [RCS group (one previous cesarean section) and MRCS group (two or more previous cesarean sections)] and primary cesarean section (FCS group) at Peking Union Medical College Hospital from January 1998 to December 2007. RESULTS: The incidence of repeat cesarean section increased from 1.26% to 7.32%. The mean gestational age at delivery in RCS group (38.1+/-1.8 weeks) and MRCS group (37.3+/-2.5 weeks) were significantly shorter than that in FCS group (38.9+/-2.1 weeks, all P<0.01). The incidence of complication was 33.8% and 33.3% in RCS group and MRCS group respectively, and was significantly higher than that in FCS group (7.9%, P<0.05). Dense adhesion (13.5% vs. 0.4%, OR=7.156, 95% CI: 1.7-30.7, P<0.01) and uterine rupture (1.0% vs. 0, P<0.05) were commoner in RCS group compared with FCS group. Neonatal morbidity was similar among three groups (P>0.05). CONCLUSIONS: Repeat cesarean section is associated with more complicated surgery technique and increased frequency of maternal morbidity. However, the incidence of neonatal morbidity is similar to primary cesarean section.

[Clinical analysis of 47 cases of placenta accreta in the second and third trimesters].

OBJECTIVE: To explore the clinical characters, diagnosis and treatment methods of placenta accreta. METHODS: A retrospective analysis was made of 47 cases of placenta accreta admitted during May 1997 to May 2007 into Peking Union Medical College Hospital. They included 17 cases in the second trimester and 30 cases in the third. RESULTS: Among all the patients, the incidence of placenta accreta was 0.262% (47/17 918). Most of these cases (81%, 38/47) experienced a uterine procedure. 30% (14/47) of the cases were found with placenta previa and 11% (5/47) with myoma in the current pregnancy. 11% (5/47) of all the cases suffered postpartum hemorrhage. In the 17 cases in the second trimester, 12 were diagnosed by ultrasonography and 5 by clinical evidence. While in the 30 cases in the third trimester, 8 were diagnosed by biopsy, 2 by ultrasonography, and 20 by clinical evidence. 45 cases were cured by conservative treatment, which included dilatation and curettage, uterine artery embolization (UAE) with or without methotrexate (MTX), tamping B-lynch suture, singly with MTX, and mifepristone. Only 2 cases received cesarean hysterectomy. CONCLUSIONS: The incidence of placenta accreta seems on the rise. The incidence in the second trimester is higher than that in the third. In the second trimester, most cases can be diagnosed by ultrasonography after labor, and presently UAE is the best conservative management. While in the third trimester clinical evidence is the most frequent diagnostic approach. A majority of the cases could be cured by conservative therapies, which help them avoid a hysterectomy.

[Effect of pregnancy and spontaneous delivery on the morphology of levator ani muscle and expression of vaginal nerve fibers].

OBJECTIVE: To investigate the effect of pregnancy and spontaneous delivery on the morphologic characteristics of the levator ani muscle and innervation of the vaginal mucosa. METHODS: Eight nullipara without pelvic floor dysfunction (PFD) and 64 normal primipara undergoing spontaneous delivery were enrolled in this study during July to December 2006 in Peking Union Medical College Hospital. Biopsy specimens of levator ani muscle (LAM) and anterior and posterior vaginal walls were obtained from the puerpera as well as from the 8 nullipara undergoing vaginal operation. The structures of LAM were examined with histological techniques. Vaginal mucosa specimens were examined using immunohistochemistry staining for protein gene product 9.5 (PGP 9.5), vasoactive intestinal peptide (VIP) and ne uropeptide Y (NPY), and the positive stained nerve fibers were calculated respectively. RESULTS: The LAMs of the puerpera undergoing spontaneous delivery presented myogenetic and neurogenetic changes, both acute and chronic. Type I muscular fibers were predominant (79%) with both types increasing in diameters [(86 +/- 9) microm and (79 +/- 15) microm]. Significantly different (P < 0.05) innervation of PGP 9.5, VIP, and NPY nerve fibers was observed between epithelial lamina of anterior vaginal wall (5.9 +/- 3.3, 7.6 +/- 3.1 and 8.2 +/- 3.2, respectively) and that of posterior vaginal wall (3.8 +/- 2.9, 5.9 +/- 3.1 and 6.0 +/- 3.0, respectively), with the nerve fibers being more in epithelial lamina of anterior vaginal wall, while no difference in the innervation of nerve fibers was observed in the lamina propria. Significantly different (P < 0.05) innervation of PGP 9.5 and VIP nerve fibers was observed in the lamina propria of the anterior vaginal wall in puerperal undergoing vaginal delivery (6.9 +/- 3.2 and 4.9 +/- 2.1) compared with those in nullipara (3.9 +/- 3.6 and 3.1 +/- 1.2). CONCLUSIONS: Pathologic changes occur in LAMs and pelvic floor nerves during labor and delivery. LAM fibers become hypertrophy to adapt to the physiological changes during pregnancy. Richer innervation of PGP 9.5 and VIP nerve fibers in the lamina propria of the anterior vaginal wall in puerpera undergoing spontaneous delivery is beneficial for dilation of the blood vessels and smooth muscles and makes preparation for delivery.

[Screening by maternal serum markers for Down's syndrome].

OBJECTIVE: To investigate the optimal method of screening for Down's syndrome (DS) with maternal serum mankers. METHODS: Screening by maternal serum markers for Down's syndrome was offered to all 2886 pregnant women in Peking Union Medical Hospital during 1996.11-2001.3. Alpha-fetoprotein (AFP), human chorionic gonadotrophin (free beta-HCG) were used as markers during the first year of pregnancy. Alpha-fetoprotein, free human chorionic gonadotrophin (HCG) and pregnancy-associated plasma protein A (PAPP-A) were used as mid pregnancy and first-trimester markers in next three years. Amniocentesis and (CVS) were done in those defined as risk cases. RESULTS: The detection rate of Down's syndrome by maternal serum markers was 3.8% (11/2886). The proportion of false positive results in group of triple markers (alpha FP, free beta-HCG, PAPP-A) was 5%. CONCLUSIONS: The PAPP-A was a good marker to detect Down's syndrome in early pregnancy and may be used to predict the outcome during mid trimester of pregnancy. The AFP and free beta-HCG can be useful markers to detect Down's syndrome and fetal abnormality. While prenatal diagnostics can be shifted to an early pregnant period.