Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report.

Background: Helsmoortel-van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features. It is caused by heterozygous mutations in the ADNP gene on chromosome 20q13. Most of the genetic causes of Helsmoortel-van der Aa syndrome have been reported are as de novo nonsense or frameshift stop mutations in exon 5 of ADNP gene, while fewer truncating variants were discovered in exons 4 and the 5' end of exon 5. Methods: In our study, a 4-year-old female Chinese patient was reported with delayed psychomotor development, language impairment, ataxia, anxiety, aggressive behavior, and congenital heart defect. Trio whole exome sequencing and copy number variation sequencing were performed. Results: A novel de novo heterozygous pathogenic mutation c.568C > T (p.Gln190Ter) was identified in the ADNP gene of the proband. His unaffected parents did not have the variant. According to the American College of Medical Genetics (ACMG) guidelines, c.568C > T was classified as "pathogenic". Conclusion: Our report indicated that c.568C > T (p.Gln190Ter) in ADNP gene is the cause of abnormal development of the nervous system, congenital heart disease and strabismus, broadening the spectrum of ADNP gene mutations associated with Helsmoortel-van der Aa syndrome.

Early Spontaneous Abortion in Fresh- and Frozen-Embryo Transfers: An Analysis of Over 35,000 Transfer Cycles.

Background: The aim of this study was to explore the risk factors for early spontaneous abortion (ESA) in fresh- and frozen-embryo transfers. Methods: This retrospective cohort study comprised a total of 35,076 patients, including 15,557 women in the fresh-embryo transfer group and 19,519 women in the frozen-embryo transfer group from January 2016 to December 2020. The primary outcome of this study was ESA, which we defined as the termination of embryonic development before 12 weeks of pregnancy (i.e., an early abortion after artificial multi-fetal pregnancy reduction was excluded). Results: In the 35,076 ART transfer cycles, the incidence of ESA was 5.77% (2023/35,076), and the incidence rates for ESA in fresh and frozen cycles were 4.93% (767 of 15,557) and 6.43% (1,256 of 19,519), respectively. Using a multivariate logistic regression analysis model, maternal age, body mass index (BMI), and number of embryos transferred were independent predictors for ESA. In addition, frozen-thawed transfer was a risk factor for ESA as compared with fresh transfer (OR = 1.207; 95% CI, 1.094-1.331; P = 0.000), blastocyst transfer was risk factor for ESA as compared with cleavage transfer (OR =1.373; 95% CI, 1.186-1.591; P = 0.000 in the total group; OR = 1.291; 95% CI, 1.111-1.499; P = 0.001 in the frozen-transfer group), and unexplained infertility was a protective factor for ESA only in the frozen group (OR = 0.746; 95% CI, 0.565-0.984; P = 0.038). Conclusions: Maternal age, BMI, number of embryos transferred, and frozen-thawed transfer were independent risk factors for ESA in assisted reproductive technology treatment cycles.

Impact of growth hormone supplementation on improving oocyte competence in unexplained poor embryonic development patients of various ages.

OBJECTIVES: To evaluate the effectiveness of Growth hormone (GH) co-treatment during in vitro fertilization (IVF) cycles in women of different ages who manifest unexplained poor embryonic development. METHOD: This cohort study included a total of 2647 patients with unexplained poor embryonic development in their previous IVF procedures: 872 women received GH co-treatment and 1775 untreated women served as a control group. Patients were divided into 6 groups according to treatment and stratified by age (<35 years of age, A-GH group and A-control group; 35-40 years, B-GH group and B-control group; and ≥40 years, C-GH group and C-control group). The primary outcome was the oocyte-cleavage rate and the clinical pregnancy rate (CPR). RESULTS: The oocyte-cleavage rates among the three age groups were significantly higher in the GH group compared to the same-aged control group. In both group A and group B, there was no significant difference in clinical pregnancy rate between the GH group and controls. However, in patients ≥40 years of age, the clinical pregnancy rate in the GH group was significantly higher than in the control group (31.8% vs. 13.7%, p = 0.019). In the three age groups, there was no significant difference in the live birth rate between the GH group and controls. In the multivariate logistic regression analysis model, in both group A and group B, the number of cleaved embryos was independent predictors for CPR (OR = 1.464, 95% CI: 1.311-1.634; respectively, OR = 1.336, 95% CI: 1.126-1.586); Besides, in both group B and group C, age was independent predictors for CPR (OR = 0.657, 95%CI: 0.555-0.778; respectively, OR = 0.622, 95%CI: 0.391-0.989). However, only in group C, supplementation GH increased CPR as compared with not supplementation GH (OR = 2.339, 95%CI: 1.182-6.670). CONCLUSIONS: For patients with unexplained poor embryonic development, supplementation with GH increased the oocyte-cleavage rates in all three age groups, and the clinical pregnancy rate gradually improved commensurate with increasing age. There was no difference in the clinical pregnancy rate in group A and group B, but group C improved significantly. Therefore, compared with patients under 40 years of age, patients ≥40 may benefit more from GH supplementation.

Gesneriaceae in China and Vietnam: Perfection of taxonomy based on comprehensive morphological and molecular evidence.

No.

Reassessment of Bournea Oliver (Gesneriaceae) based on molecular and palynological evidence.

The former genus Bournea is endemic to China, including two species, has been under consideration for incorporation into the expanded genus Oreocharis s.l. in Gesneriaceae. The phylogenetic tree inferred from two DNA sequences (trnL-F and ITS) showed that this genus is deeply nested into Oreocharis s.l. However, the new tree from seven ones (atpB-rbcL, ndhH-rps15-ycf1, rpl132, trnC-trnD, trnL-F, trnT-trnL of chloroplast DNA and ITS regions) revealed that Bournea is the sister group of other of Oreocharis s.l. Furthermore, Bournea is morphologically different from other Oreocharis based on existing data. We suggest keeping Bournea as an independent genus in Gesneriaceae.

Two new species of Allocheilos (Gesneriaceae) from the karst regions in Yunnan, China.

Allocheilos W.T.Wang in Gesneriaceae was described in 1983 and is characterized by its 4-lobed adaxial lip and undivided abaxial lip with acute apex. The genus is endemic to the karst regions in southwestern China and is classified as endangered due to habitat loss. During surveys of the karst areas in Yunnan of southwestern China in 2017, we collected two unknown species of the genus and later confirmed their novelty to science based on the detailed observation of their morphological characteristics, viz. A. maguanensis W.H.Chen & Y.M.Shui and A. rubroglandulosus W.H.Chen & Y.M.Shui. Their relationships with the similar species and provisional conservation status are discussed.

Deinostigma fasciculatum, a new species of Gesneriaceae in Yunnan, China.

A new species of Deinostigma (Gesneriaceae) from Yunnan, China, Deinostigma fasciculatum W.H.Chen & Y.M.Shui, sp. nov., has been discovered and described. In the genus, the new species is similar to D. cicatricosum (W.T. Wang) D.J. Middleton & Mich. Möller and D. cyrtocarpum (D. Fang & L. Zeng) Mich. Möller & H.J. Atkins in dark purple flowers and falcate fruit, but differs from them mainly in the inflorescences with fasciculate flowers, calyx lobes (reflexed, narrowly lanceolate and 1.2-1.3 cm long), corolla tubes (sharply contracted below middle and white outside and below throat). The above three species grow nearby non-limestone wet cliffs and geographically isolated with different distributions (the new species in Southeast Yunnan, D. cicatricosum in Eastern Guangxi and D. cyrtocarpum in Southern Guangxi and Guangdong, China).

Two new species of Paraboea (Gesneriaceae) in Caryota obtusa forests in Southwest China, with compound and simple dichasia, respectively.

Two new species of Gesneriaceae, Paraboea myriantha sp. nov. and P. brevipedunculata sp. nov. are described and illustrated with photos. They grow in the Caryota obtusa forests from Yunnan Province of China. P. myriantha is closely related to P. glutinosa (Hand.-Mazz.) K.Y.Pan, but differs mainly in corolla outside glandular-puberulent, adaxial corolla lobes semicordate, corolla tube obliquely campanulate, and filaments glandular-puberulent. P. brevipedunculata is closely related to P. crassifolia (Hemsley) B. L. Burtt, but different mainly in simple dichasia with 1 and 2 flowers, peduncles 0.5-2 cm long and capsules slightly twisted. The geographical relationship between the two new species and their similar species has been discussed.

Two new taxa of Gesneriaceae in the karst regions in North Vietnam.

One new species and one new variety of Gesneriaceae in Vietnam are described, viz. Paraboea sinensis var. glabrissimavar. nov. and Primulina xuansonensis sp. nov. These two new taxa grow in limestone regions in North Vietnam. The former new variety differs from Paraboea sinensis (Oliv.) Burtt var. sinensis in its young leaf abaxially, stem and peduncle sparsely and thin pannose, acute top of leaves, pistil glandular-pubescent or pubescent. The latter new species differs in its bracts 1.6-2.5 × 1.3-1.5 cm, corolla 3-3.5 cm long, corolla tube slightly curved near the base and inflated on the adaxial surface near the corolla lobes, and corolla abaxial lip lobes rounded. The two new taxa grow at Xuan Son National Natural Reserve, North Vietnam and remain undisturbed with low risk of extinction.

Four new species of Oreocharis (Gesneriaceae) in Yunnan province, China.

Four new species of Oreocharis (Gesneriaceae) are described and illustrated. These new species grow in pairs in montane forests in Yunnan province, China. One pair grows in Wenshan county, Southeast Yunnan, viz. Oreocharis eriocarpa W.H. Chen & Y.M. Shui and O. wenshanensis W.H. Chen & Y.M. Shui and another pair grows in Yongde county, Southwest Yunnan, viz. O. fulva W.H. Chen & Y.M. Shui and O. lacerata W.H. Chen & Y.M. Shui. Their morphological and geographical relationship with similar species is discussed and the IUCN endangered status is provided, based on the available data.

The extract of aquatic macrophyte Carex cinerascens induced colony formation in bloom-forming cyanobacterium Microcystis aeruginosa.

Colony formation in Microcystis aeruginosa played important roles in blooms formation. To study the effects of plant allelopathy on colony formation in M. aruginosa, unicellular M. aeruginosa was cultivated under laboratory conditions treated with various extract concentration of Carex cinerascens. The growth of M. aeruginosa in the treatments with 0.05 and 0.1 mg L-1 extract of C. cinerascens was promoted but the growth in the treatments with 1.5, 3.0, and 6.0 mg L-1 C. cinerascens extract was inhibited. Obvious colony formation in M. aeruginosa was observed in all treatments while no colony formation was detected in the control. The cell number per colony at the first day was the largest and decreased along with culture time. The cell number per colony in the control ranged from 3.0 to 4.0 during the experiment. However, the values in the five treatments at the first day were 33, 80, 58, 41, and 30, respectively. A positive exponential relationship between cell number per colony of M. aeruginosa and extracellular polysaccharides (EPS) content was found as well. Compared the fold-increase in cell number per colony and the fold-increase in total biomass of M. aeruginosa at various day, it was found that colony formation induced by extract of C. cinerascens was primarily dependent on promotion of cell adhesion during the first 2 days. The cell number per colony decreased afterward was due to the increasing proportion of single cells in the culture because single cells had a great higher growth rate than M. aeruginosa colonies under culture condition. Our results suggested that plant allelopathy be one of the major factor contributing to colony formation in M. aeruginosa.

Rediscovery and amended descriptions of Begonia kingdon-wardii (Begoniaceae) from North Myanmar.

Begonia kingdon-wardii Tebbitt was rediscovered in 2014 from Myanmar after 67 years based on its last collection in 1937. Its previously unknown female flower and inaccurate morphology of leaf and ovary have been additionally described. This species belongs to Begonia sect. Sphenanthera (Hassk.) Warb. due to its dioecious habit, 3-locular ovary, berry fruits and thick placenta segments. Morphologically, it is similar to Begonia gulinqingensis S. H. Huang & Y. M. Shui in the leaf shape, placentation and fruit shape, but different in its dioecious plants, pliciform leaves, two-petalled female flowers and berry fruits. The rediscovery of this amazing living species will attract significant interest for scientific research and horticultural application.

Seven new species of Begonia (Begoniaceae) in Northern Vietnam and Southern China.

Since 2016, KIB (Kunming Institute of Botany) and CPC (Centre for Plant Conservation of Vietnam) have conducted several surveys in the transboundary karst regions in Northern Vietnam and Southern China and seven new species in the genus Begonia Linn. (Begoniaceae) are firstly described. Amongst them, two species, Begonia albopunctata Y.M. Shui, W.H. Chen & H.Q. Nguyen and B. erectocarpa H.Q. Nguyen, Y.M. Shui & W.H. Chen, respectively belong to section Sphenanthera with berry fruits and section Leprosae with clavate berry fruits; four species, B. gulongshanensis Y.M. Shui & W. H. Chen, B. minissima H.Q. Nguyen, Y.M. Shui & W.H. Chen, B. mollissima Y.M. Shui, H.Q. Nguyen & W.H. Chen, B. rhytidophylla Y.M. Shui & W.H. Chen, belong to section Coelocentrum with parietal placentation; one species, Begonia bambusetorum H.Q. Nguyen, Y.M. Shui & W.H. Chen, belongs to section Diploclinium with 3-loculed ovary and capsules. The diagnostic characters of these species are described and illustrated in the text and photographs.

Two new species of Oreocharis (Gesneriaceae) from Fan Si Pan, the highest mountain in Vietnam.

Two new species of Oreocharis Benth. from Fan Si Pan, the highest mountain in Vietnam (Sa Pa) are described and illustrated. Oreocharis grandiflora W.H.Chen, Q.H.Nguyen & Y.M.Shui, is similar to O. flavida Merr. from Hainan province, China, but differs mainly by its larger and infundibuliform corolla, stamens adnate to the base of the corolla tube and stamens coherent in two pairs. The second, Oreocharis longituba W.H.Chen, Q.H.Nguyen & Y.M.Shui, is similar to O. hirsuta Barnett, endemic to northern Thailand, but mainly differs in its pubescence, coherent stamens and glabrous filaments.

Mild encephalopathy/encephalitis with a reversible splenial lesion (MERS): A report of five neonatal cases.

Mild encephalopathy/encephalitis with a reversible splenial (MERS) lesion is a clinic-radiological entity. The clinical features of MERS in neonates are still not systemically reported. This paper presents five cases of MERS, and the up-to-date reviews of previously reported cases were collected and analyzed in the literature. Here we describe five cases clinically diagnosed with MERS. All of them were neonates and the average age was about 4 days. They were admitted for the common neurological symptoms such as hyperspasmia, poor reactivity and delirium. Auxiliary examinations during hospitalization also exhibited features in common. In this report, we reached following conclusions. Firstly, magnetic resonance imaging revealed solitary or comprehensive lesions in the splenium of corpus callosum, some of them extending to almost the whole corpus callosum. The lesions showed low intensity signal on T1-weighted images, homogeneously hyperintense signal on T2-weighted images, fluid-attenuated inversion recovery and diffusion-weighted images, and exhibited an obvious reduced diffusion on apparent diffusion coefficient map. Moreover, the lesions in the magnetic resonance imaging disappeared very quickly even prior to the clinical recovery. Secondly, all the cases depicted here suffered electrolyte disturbances especially hyponatremia which could be easily corrected. Lastly, all of the cases recovered quickly over one week to one month and majority of them exhibited signs of infections and normal electroencephalography.

Mild Encephalopathy/Encephalitis with a Reversible Splenial Lesion (MERS): A Report of Five Neonatal Cases / 华中科技大学学报（医学）（英德文版）

Mild encephalopathy/encephalitis with a reversible spleniat (MERS) lesion is a clinic-radiological entity.The clinical features of MERS in neonates are still not systemically reported.This paper presents five cases of MERS,and the up-to-date reviews of previously reported cases were collected and analyzed in the literature.Here we describe five cases clinically diagnosed with MERS.All of them were neonates and the average age was about 4 days.They were admitted for the common neurological symptoms such as hyperspasmia,poor reactivity and delirium.Auxiliary examinations during hospitalization also exhibited features in common.In this report,we reached following conclusions.Firstly,magnetic resonance imaging revealed solitary or comprehensive lesions in the splenium of corpus callosum,some of them extending to almost the whole corpus callosum.The lesions showed low intensity signal on Tl-weighted images,homogeneously hyperintense signal on T2-weighted images,fluid-attenuated inversion recovery and diffusion-weighted images,and exhibited an obvious reduced diffusion on apparent diffusion coefficient map.Moreover,the lesions in the magnetic resonance imaging disappeared very quickly even prior to the clinical recovery.Secondly,all the cases depicted here suffered electrolyte disturbances especially hyponatremia which could be easily corrected.Lastly,all of the cases recovered quickly over one week to one month and majority of them exhibited signs of infections and normal electroencephalography.

Taxonomic status, phylogenetic affinities and genetic diversity of a presumed extinct genus, Paraisometrum W.T. Wang (gesneriaceae) from the karst regions of Southwest China.

BACKGROUND: The karst regions in South China have an abundance of endemic plants that face high extinction risks. The Chinese Gesneriaceae endemic Paraisometrum mileense ( = Oreocharis mileensis), was presumed extinct for 100 years. After its re-discovery, the species has become one of five key plants selected by the Chinese forestry government to establish a new conservation category for plants with extremely small populations. For conservation purposes, we studied the phylogenetic and population genetic status of P. mileense at the three only known localities in Guangxi, Guizhou and Yunnan. METHODOLOGY/PRINCIPAL FINDINGS: We collected 64 samples (52 species) of Oreocharis and 8 samples from three provinces of P. mileense and generated molecular phylogenies, and inferred that P. mileense represents a relatively isolated and derived taxonomic unit within Oreocharis. Phylogeographic results of 104 samples of 12 populations of P. mileense indicated that the populations in Yunnan have derived from those in Guangxi and Guizhou. Based on AFLP data, the populations were found to harbor low levels of genetic diversity (He = 0.118), with no apparent gradient across the species' range, a restricted gene flow and significant isolation-by-distance with limited genetic differentiation among the populations across the three provinces (FST = 0.207, P<0.001). The 10 populations in Yunnan were found to represent two distinct lineages residing at different altitudes and distances from villages. CONCLUSION/SIGNIFICANCE: The low levels of genetic diversity found in P. mileense are perhaps a consequence of severe bottlenecks in the recent past. The distribution of the genetic diversity suggests that all populations are significant for conservation. Current in situ and ex situ measures are discussed. Further conservation actions are apparently needed to fully safeguard this conservation flagship species. Our work provides a model of an integrated study for the numerous endemic species in the karst regions with extremely small populations.

Interleukin-8 serum levels in patients with hepatocellular carcinoma: correlations with clinicopathological features and prognosis.

PURPOSE: In this study, we measured the serum interleukin-8 (IL-8) levels in patients with hepatocellular carcinoma (HCC) to evaluate its correlation with clinicopathological features and prognosis. EXPERIMENTAL DESIGN: ELISA was used to detect the concentrations of IL-8, vascular endothelial growth factor, and macrophage migration inhibitory factor in preoperative sera of 59 patients with resection of HCC and 15 healthy subjects. RESULTS: Preoperative serum IL-8 was found to be significantly elevated in patients with HCC compared with healthy subjects (median, 17.6 versus 1.0 pg/ml, P=0.046). The levels of IL-8 correlated significantly with a large tumor size (>5 cm), absence of tumor capsule, presence of venous invasion, and advanced pathological tumor-node-metastasis stage. Serum IL-8 level was a significant prognostic factor in terms of disease-free and overall survival. Patients with a serum IL-8 level of >17.6 pg/ml had a poorer disease-free survival than those with a level of <17.6 pg/ml (median disease-free survival 4.7 versus 19.2 months). Multivariate analyses showed that serum IL-8 level was a significant and independent prognostic factor of survival. CONCLUSIONS: Significant correlations of serum IL-8 levels with tumor size and tumor stage suggest that IL-8 may be directly or indirectly involved in the progression of HCC. These findings indicate that serum IL-8 may be a useful biological marker of tumor invasiveness and an independent prognostic factor for patients with HCC.

Learning curve of a new hospital laboratory. The monitoring of computer-generated turnaround time of laboratory tests in an emergency department.

Learning curves have been described for different health technologies, mainly new surgical or diagnostic procedures, but learning curves for a new hospital's laboratory procedures have not been systematically studied. To monitor the timeliness (turnaround time) of stat tests from the Emergency Department as a marker of laboratory quality and to address the issue of a learning curve for procedures performed in a new hospital laboratory, we employed a computerized system for collecting data of turnaround time (from order entry to result verification) on stat tests from the Emergency Department of a newly opened (July 24, 2000) 471-bed general hospital. The data collection operates without user intervention. We evaluated the turnaround times of stat complete blood count and biochemistry tests from August 2000 to December 2001. Results show that it took 6 to 12 months before the turnaround times reached a plateau, we believe that this is the learning curve of a new hospital laboratory. Computer-generated turnaround times for Emergency Department stat tests appear to be a useful tool for monitoring the quality of laboratory tests and can demonstrate the learning curve of a new hospital laboratory.