ADAMTS3 and FLT4 gene mutations result in congenital lymphangiectasia in newborns: A case report.

BACKGROUND: Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels. Congenital lymphangiectasia can affect various organ systems; however, it frequently occurs in the lungs accompanied with unexplained pleural effusion. Further, it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities. However, after birth the newborn rapidly develops respiratory distress that quickly deteriorates. Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease. We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes, which have not been reported previously. CASE SUMMARY: We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth. An autopsy revealed lymphangiectasia of the organ systems. Further, whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes, ADAMTS3 and FLT4, and Sanger verification revealed similar lesions in the mother with no symptoms. CONCLUSION: Considering the presented case, obstetricians should observe unexplained foetal pleural effusion, and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment.

Predictive value of the trans-perineal three-dimensional ultrasound measurement of the pubic arch angle for vaginal delivery.

BACKGROUND: Numerous variables are linked to the success of vaginal delivery, including the subpubic arch angle (SPAA) during labor, the importance of which has not yet been fully elucidated. AIM: To examine the SPAA distributional characteristics and to ascertain SPAA's ability to predict the type and duration of labor. METHODS: We determined the SPAA and analyzed the corresponding data. We also evaluated the relationship between the SPAA and the mode of delivery and the duration of labor by regression. The present study comprised a total of 301 pregnant women who had given birth at Beijing Tiantan Hospital of the Capital Medical University between January and December of 2021. RESULTS: Our analysis of 301 pregnant women revealed that the SPAA measured using three-dimensional trans-perineal ultrasound had a minimum angle of 81° and a maximum angle of 122.2°. The angle in the normal vaginal delivery group was greater than that in the labor cesarean group (P = 0.000). The SPAA was a highly significant positive predictor of normal vaginal delivery (P = 0.000) with an area under the curve of 0.782 (P = 0.000; 95%CI: 0.717-0.848). We found the length of the second stage of labor to be positively influenced by the SPAA using linear regression analysis (P = 0.045). CONCLUSION: The SPAA was a highly significant positive predictor of normal vaginal delivery. The length of the second stage of labor and normal vaginal birth were predicted by SPAA.

Four new species of Trichomonascaceae (Saccharomycetales, Saccharomycetes) from Central China.

Trichomonascaceae is the largest family of ascomycetous yeast in the order Saccharomycetales. In spite of the extensive body of research on Trichomonascaceae in China, there remain new species to be discovered. Here, we describe four new species isolated from several rotting wood samples from Henan Province, Central China. Phylogenetic analysis of a combined ITS and nrLSU dataset with morphological studies revealed four new species in the Trichomonascaceae: Diddensiellaluoyangensis, Sugiyamaellacylindrica, Su.robnettiae, and Zygoascusdetingensis. Clustering in the Diddensiella clade, D.luoyangensis' closest neighbour was D.transvaalensis. Meanwhile, Su.cylindrica clustered in the Sugiyamaella clade closest to Su.marilandica and Su.qingdaonensis. Also clustering in the Sugiyamaella clade, Su.robnettiae was most closely related to Su.chuxiongensis. Finally, Z.detingensis occupied a distinct and separated basal branch from the other species of the genus Zygoascus. These results indicate a high species diversity of Trichomonascaceae.

Kodamaeahongheensis f.a., sp. nov., Kodamaeaovata f.a., sp. nov. and Kodamaeayamadae f.a., sp. nov., three new yeast species of Kodamaea (Saccharomycetales, Debaryomycetacae) from China.

Kodamaea includes a growing number of interesting yeasts of the family Debaryomycetacae that are widely distributed in temperate, subtropical and tropical regions of different continents. During recent yeast collections in Henan and Yunnan Province in China, several isolates of Kodamaea were obtained from rotting wood, all of which represent undescribed taxa. Based on morphological and phylogenetic analyses (ITS and LSU rDNA), three new species are proposed: K.hongheensis f.a., sp. nov., K.ovata f.a., sp. nov. and K.yamadae f.a., sp. nov. In addition, sixteen Candida species, which are members of the Kodamaea clade based on phylogenetic analysis, are transferred to Kodamaea as new combinations. Our results indicate high species diversity of Kodamaea waiting to be discovered in rotting wood from tropical and subtropical China.

New species of Yamadazyma from rotting wood in China.

Yamadazyma is one of the largest genera in the family Debaryomycetaceae (Saccharomycetales, Saccharomycetes) with species mainly found in rotting wood, insects and their resulting frass, but also recovered from flowers, leaves, fruits, tree bark, mushrooms, sea water, minerals, and the atmosphere. In the present study, several strains obtained from rotting wood in Henan and Yunnan Provinces of China were isolated. Based on morphology and a molecular phylogeny of the rDNA internal transcribed spacer region (ITS) and the D1/D2 domain of the large subunit (LSU) rDNA, these strains were identified as three new species: Yamadazymaluoyangensis, Y.ovata and Y.paraaseri; and three previously described species, Y.insectorum, Y.akitaensis, and Y.olivae. The three new species are illustrated and their morphology and phylogenetic relationships with other Yamadazyma species are discussed. Our results indicate a high undiscovered diversity of Yamadazyma spp. inhabiting rotting wood in China.

Clinical characteristics and outcomes in pregnant women with epilepsy.

BACKGROUND: Epilepsy in pregnancy can lead to substantial maternal and neonatal morbidity and mortality. Early intervention in pregnant women with epilepsy (WWE), accurate assessment of the severity of their condition, and effective treatment are required to improve maternal and neonatal prognosis. Many obstetricians lack experience in monitoring and treating pregnant WWE. AIMS: The aim of this study was to describe the demographic and clinical characteristics of pregnant WWE and examine maternal and neonatal outcomes. METHODS: Medical records of 75 pregnant women with a history of epilepsy who delivered at Beijing Tiantan Hospital, China between January 2006 and December 2019 were retrospectively reviewed. Pregnant women with a history of epilepsy were matched 1:2 with a control group of 150 pregnant women without epilepsy who delivered at Beijing Tiantan Hospital during the same time period. Information including type and frequency of epilepsy and seizures, maternal complications, medication, delivery mode, newborn weight, and newborn Apgar score were recorded. In subgroup analyses, pregnant WWE were stratified according to presence or absence of seizures during pregnancy and generalized seizure vs. nongeneralized seizure. RESULTS: The incidence of anemia, hypertensive disorder of pregnancy, premature rupture of membranes (PROM), cesarean section, and postpartum hemorrhage was significantly higher (p < 0.05), and mean newborn weight and newborn Apgar score were significantly lower (p < 0.05) in pregnant WWE compared with pregnant women without epilepsy. The incidence of premature delivery was significantly higher (p < 0.05), and mean newborn weight was significantly lower (p < 0.05) in pregnant WWE with seizures vs. without seizures. Mean newborn weight was significantly lower (p = 0.01) in pregnant WWE with nongeneralized seizures vs. generalized seizures. CONCLUSION: Pregnant WWE are at high risk of anemia, gestational hypertension, PROM, cesarean section, postpartum hemorrhage, and low newborn weight and Apgar score. Women with epilepsy who experience seizures during pregnancy are at high risk of preterm birth and having low birth weight infants. Pregnant WWE who experience nongeneralized seizures are at high risk of having low birth weight infants. These data emphasize the need to routinely monitor fetal weight on ultrasound and offer appropriate intervention. These findings highlight the need for healthcare providers to take a multidisciplinary approach to the management of pregnant WWE. SYNOPSIS: Pregnant WWE are at high risk of obstetric complications. Women with epilepsy who experience seizures during pregnancy are at high risk of preterm birth and having low birth weight infants. Pregnant WWE who experience nongeneralized seizures are at high risk of having low birth weight infants. These data highlight the need for healthcare providers to take a multidisciplinary approach to the management of pregnant WWE.

The clinical characteristics of pregnant women with epilepsy in China.

BACKGROUND: Epilepsy during pregnancy and puerperium is infrequent, and it can induce severe complications and poor prognosis. Pregnancy in women with epilepsy (WWE) is usually uneventful. Previous studies have mainly focused on the effects of different treatments on prognosis. However, few articles have addressed if different epilepsy types were associated with a higher incidence of seizure breakthrough/recurrence and pregnancy outcomes. METHODS: In the present study, based on a unique sample with a low incidence of epilepsy, we evaluated the main clinical characteristics of epilepsy patients. RESULTS: Mean age of pregnant WWE was 29.95±4.65 (range, 21-42) years. Pregnancies were at a mean gestational age of 33.80±9.14 (range, 7-41) weeks, and 88.24% (52/61) of WWE were in their third trimester. There was 9.84% (6/61) of pregnant WWE underwent abortion or induced labor in midpregnancy to ensure maternal safety. There was 75.41% (46/61) of pregnant WWE using antiepileptic drugs (AEDs), of which 52.46% (32/61) were taking a single AED and 22.95% (14/61) were using multiple AEDs. There was 47.54% (29/61) of WWE experiencing seizures during their pregnancy. We found that the type of epilepsy did not affect seizures during pregnancy or the prognosis. However, more pregnant WWE with hypertensive disorder had seizures compared with pregnant WWE without hypertensive disorder. CONCLUSIONS: The study highlighted a novel direction for effectively improving seizures during pregnancy and the prognosis of pregnancy-associated epilepsy.

Pichia nanzhaoensis sp. nov. and Pichia paraexigua f.a., sp. nov., two yeast species isolated from rotting wood.

Four yeast strains were isolated from rotting wood samples collected in the Baotianman Nature Reserve in Henan Province, Central China. On the basis of sequence analysis of the D1/D2 domains of the large subunit rRNA gene and the internal transcribed spacer regions, they were suggested to be two novel species of the genus Pichia. Pichia nanzhaoensis sp. nov. produces one to four spherical ascospores per ascus, and is most closely related to Candida pseudolambica. Pichia paraexigua f.a., sp. nov. is a sister taxa to Pichia exigua, but the formation of ascospores was not observed on various sporulation media. P. nanzhaoensis sp. nov. can weakly assimilate inulin, whereas P. paraexigua sp. nov. can weakly assimilate d-glucosamine. The type strain of Pichia nanzhaoensis is NYNU 178136T (=CICC 33279T=CBS 15346T) and the type strain of Pichia paraexigua is NYNU 178135T (=CICC 33278T=CBS 15237T).

Kodamaea neixiangensis f.a., sp. nov. and Kodamaea jinghongensis f.a., sp. nov., two yeast species isolated from rotting wood.

Seven strains representing two novel yeast species were isolated from rotting wood in Henan and Yunnan Provinces, PR China. The results of phylogenetic analysis based on the D1/D2 domains of the large subunit (LSU) rRNA gene revealed that these two species are members of the genus Kodamaea, although the formation of ascospores was not observed. Kodamaea neixiangensis f.a., sp. nov. (type strain NYNU 167139T=CICC 33170T=CBS 14699T) formed a clade with Candida kaohsiungensis and Candida hsintzibuensis, from which it differed by 10-16 substitutions in the D1/D2 domain. The ITS sequences of K. neixiangensis sp. nov. differed by 27 substitutions from those of the type strain of C. kaohsiungensis. The most closely related species with a validly published name to Kodamaea jinghongensis f.a., sp. nov. (type strain NYNU 167162T=CICC 33171T=CBS 14700T) was Candida fukazawae, but this differed by 14 substitutions in the D1/D2 domain and by 15 substitutions in the ITS region.

Clinical characteristics and prognosis of cerebral venous thrombosis in Chinese women during pregnancy and puerperium.

Due to the specific physiology associated with pregnancy and puerperium, cerebral venous sinus thrombosis (CVT) may manifest different characteristics. This study aimed to identify the clinical manifestations and prognosis of pregnancy-associated CVT. A total of 43 pregnancy-associated CVT patients were enrolled. We analysed the clinical presentations of the disease and performed a multivariate logistic regression analysis to determine which variables were associated with prognosis. Our descriptive results showed the following: 1) the incidence was 202 per 100,000 deliveries, and the mortality rate was 11.63%; 2) the most frequent symptom was headache; 3) the most frequent abnormal laboratory findings were increased levels of fibrinogen and several serum lipoproteins (including triglyceride, cholesterol, high-density lipoprotein, low-density lipoprotein, apolipoprotein A1, and apolipoprotein B); and 4) the superior sagittal sinus and transverse sinus were the most frequently affected locations. Moreover, an increased modified Rankin Scale score was positively associated with infection, seizure, intracerebral haemorrhage (ICH) and hypertensive disorders of pregnancy (HDP). Comparably, the occurrence of death was positively and significantly associated with infection, seizure and ICH. Consequently, timely diagnosis and treatment of pregnancy-associated CVT patients with infection, seizure, ICH or HDP are needed. Patients with infection, seizure or ICH have a greater risk of death.

E2F1-directed activation of nc886 mediates drug resistance in cervical cancer cells via regulation of major vault protein.

Non-coding RNAs are critical regulators of tumor biology. nc886, a recently identified non-coding RNA, is overexpressed in some tumors, but undetected in others. However, the precise role of nc886 remains unclear in cervical cancers. In this study, we found that nc886, major vault protein (MVP), and E2F1 exhibited coordinate expression as they were silenced in normal tissues but overexpressed in cervical cancer tissues. We subsequently demonstrate that nc886 upregulation was a critical response to chemotherapy treatment of cervical cancer cells. Mechanistically, inhibition of nc886 increased chemosensitivity, induced apoptosis, and suppressed the protein expression of MVP, a critical regulator of drug resistance. Furthermore, we identify E2F1 as a key transcription regulator of nc886 that directly interacts and modulates promoter activity. Taken together, we demonstrate that E2F1 sufficiently promotes nc886 transcription and in turn MVP expression to drive drug resistance in cervical cancer cells.

A clinical characteristic analysis of pregnancy-associated intracranial haemorrhage in China.

Intracerebral haemorrhage (ICH) occurring during pregnancy and the puerperium is an infrequent but severe complication with a high mortality and poor prognosis. Until recently, previous studies have mainly focused on the effect of different treatments on prognosis. However, few studies have provided solid evidence to clarify the key predisposing factors affecting the prognosis of ICH. In the present study, based on a unique sample with a high ICH incidence and mortality rate, we described the main clinical characteristics of ICH patients and found that the prognosis of patients who underwent surgical intervention was not better than that of patients who received other treatment modalities. However, pre-eclampsia patients had higher maternal and neonatal mortality rates than other aetiology groups. Furthermore, univariate regression analysis identified onset to diagnosis time (O-D time) and pre-eclampsia as the only factors showing independent correlation with poor maternal outcomes (modified Rankin Scale, mRS ≥ 3), and only O-D time was identified as a predictor of maternal mortality. These results revealed that the aetiology of ICH and O-D time might be crucial predisposing factors to prognosis, especially for patients with pre-eclampsia. The study highlighted a novel direction to effectively improve the prognosis of pregnancy-associated ICH.

[Screening and sampling of endometrial carcinoma accuracy of the endometrial cytology test for the screening of endometrial cancer].

OBJECTIVE: To evaluate the accuracy of endometrial cytology test (ECT) for the diagnosis of endometrial cancer or precancerous lesions and then discuss the value of ECT as a screening tool for endometrial cancer.Secondly, to investigate related characteristics and independent risk factors of epidemiology of endometrial carcinomas and atypical endometrial hyperplasia to advise proper crowd for endometrial carcinomas screening and monitoring. METHODS: Totally 1717 preoperative questionnaires on hysteroscopy + dilation & curettage, histopathology and endometrial cytological tests in Peking University First Hospital, People's Hospital of Beijing Daxing District and Beijing Cancer Hospital, from March 2009 to May 2013 were completed. Histopathologic diagnoses were used as the gold standard for determining the accuracy of ECT.Extrapolation: applied binary logistic regression method to narrow down the risk factors of histopathology and endometrial cytological examination. RESULTS: Satisfaction rate of cytological specimens and pathological specimens were 96.45% (1656/1717) and 91.44% (1570/1717), respectively. ECT provided sufficient material for the diagnosis significantly more often than histopathology (P < 0.05). For the ECT diagnosis of endometrial cancer: accuracy was estimated at 88.2%, sensitivity at 87.3%, specificity at 88.3%, positive predictive value (PPV) at 41.9%, negative predictive value (NPV)at 98.6%.Univariate analysis revealed that risk factors of diagnosis of endometrial carcinomas and atypical hyperplasia of histopathology were included:body mass index (BMI) ≥ 25 kg/m(2), age ≥ 40 years old, diabetes mellitus, hypertension, menopause, family history of malignant tumor (all P < 0.10). Multifactor analysis revealed that the independent risk factors were included:BMI ≥ 25 kg/m(2), age ≥ 40 years, menopause and family history of malignant tumor (all P < 0.05). CONCLUSIONS: The results of the current study indicated that the accuracy of ECT for the diagnosis of endometrial cancer was high.Furthermore, ECT could be a useful tool for the screening of endometrial cancer.Independent risk factors of endometrial carcinomas and atypical endometrial hyperplasia including:age over 40 years, BMI ≥ 25 kg/m(2), menopause and family history of malignant tumor.

Comparative study of transvaginal ultrasonographic and diagnostic hysteroscopic findings in postmenopausal breast cancer patients treated with tamoxifen.

BACKGROUND: There is an association between postmenopausal tamoxifen therapy and endometrial pathologies. We investigated the usefulness of diagnostic hysteroscopy and transvaginal ultrasonography (TVS) and estimated whether diagnostic hysteroscopy improves detection of endometrial pathologies in postmenopausal breast cancer patients on tamoxifen. METHODS: Ninety-seven postmenopausal breast cancer patients who had been taking tamoxifen 20 mg/d for ≥ 6 months went through TVS, diagnostic hysteroscopy, and endometrial biopsy examinations. The presence of endometrial histopathologic features with abnormal TVS and diagnostic hysteroscopic findings were correlated. RESULTS: No endometrial cancer was found in any of the 97 patients. Fifty-three patients (54.6%) developed endometrial polyps as diagnosed histopathologically. Fifty-nine patients (60.8%) tested positive in TVS exams, of whom 43 had polyps, four had hyperplasia, and 12 atrophy. Thirty-eight patients (39.2%) tested negative in TVS exams, of whom 10 had polyps, three hyperplasia, and 25 atrophy. TVS exams presented 63.6% specificity, 81.8% sensitivity, 72.9% positive-predictive value, and 73.7% negative-predictive value, whereas the corresponding values of diagnostic hysteroscopy were 100%, 98.1%, 100%, and 97.8% respectively. The correct ratio of hysteroscopy was significantly higher than that of TVS (P = 0.000). CONCLUSIONS: In postmenopausal breast cancer patients treated with tamoxifen, TVS alone is not sufficient for the detection of endometrial pathologies. Additional use of diagnostic hysteroscopy considerably improves the detection of polyps, thus significantly reducing the rate of false-negative findings of endometrial pathologies.

[Clinical analysis of abnormal uterine bleeding treatment with Thermablate EAS].

OBJECTIVE: To study the two-year follow-up and contrast research for 182 patients by Thermablate EAS Uterine Balloon Therapy (UBT) or Transcervical Resection of Endometrium (TCRE). METHODS: We followed up 90 cases of UBT and 92 cases of TCRE between Oct. 2003 and June 2005. The mean age of UBT group was 49.4+/-9.4 (34-81) years, and that of TCRE group 46.6 +/-8.4 (35-74) years. The mean following-up for UBT group was 17.3+/- 5.0 (6-27) months, and that of TCRE group 17.5+/-4.1 (6-27) months. There was no noticeable difference of the high risk for complication between the two groups. The follow up happens twice a year one month after the operation. The follow up started in Dec. 2005. RESULTS: The chi(2) value of pain during operation between two groups is 12.744. The P value is 0.000. It has statistical significance. The pain of UBT group is heavier than TCRE. The chi(2) value of blood disappearance between two groups is 24.347. The P value is 0.000. It has statistical significance. The duration of the blood disappearance of UBT group is shorter than TCRE. The chi(2) value of discharge disappearance between two groups is 99.486. The P value is 0.000. It has statistical significance. The duration of the blood discharge of UBT group is shorter than TCRE. The chi(2) value of blood flow for two years after surgery between two groups is 4.708. The P value is 0.03. It has statistical significance. The blood flow of UBT group is much more decrease than TCRE. The chi(2) value of dysmenorrheal improved after surgery between two groups is 9.970. The P value is 0.002. It has statistical significance. The dysmenorrheal improved of UBT group is much better than TCRE. CONCLUSION: Thermablate EAS UBT is a new generation of endometrial ablation. Two years clinical observation shows that pain can be controlled by oral medicine for UBT group. The blood and discharge disappearance of UBT group is shorter than TCRE. Two years after the surgery the improvement of blood flow and dysmenorrheal released is much better than TCRE. However it probably will take longer time to show its long term effectiveness.