Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in the COL7A1 gene. DEB, nails only (DEB-na), is a rare type of DEB. Patients with DEB-na can be overlooked, and genetic testing is helpful to determine the correct diagnosis. We collected two families with DEB-na. Clinical information was analyzed. Ultrastructural analysis of the skin tissue was performed. Blood samples were obtained. Next-generation sequencing was performed and the results were confirmed by Sanger sequencing. A genetic study revealed two novel heterozygous mutations: COL7A1:c.6742G>A (p.G2248R) in patient 1 and c.7181C>G (p.P2394R) in patient 2. Precise diagnosis was made for every patient based on clinical findings and genetic studies. We summarized the phenotype and COL7A1 mutations related to DEB-na. We report a new phenotype of DEB-na and two novel mutations in COL7A1. In addition, we emphasize the importance of careful clinical examination and genetic testing in the diagnosis of DEB-na.

BACKGROUND:Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients are generally not diagnosed until they are adults due to a later onset of skin alterations.CASE PRESENTATION:We report a case of a 28-year-old Chinese woman with freckle-like hyperpigmented macules in a sun-exposed area who is prone to develop basal cell carcinomas. A genetic study revealed a novel homozygous c.111_112del deletion in exon 1 of the DDB2 gene. Western blotting analysis revealed that the patient lacked the expression of the wild-type mature DDB2 protein. The proband was first diagnosed with XPE on the basis of clinical findings and genetic testing. Sun protection was recommended, and the patient did not develop any skin cancers during the one-year follow-up.CONCLUSIONS:We identified a novel homozygous deletion in DDB2 gene in Chinese XP-E patients having unique clinical features.

BACKGROUND:Non-invasive prenatal testing (NIPT) is routinely used in clinical practice for fetal trisomy screening, but low total cfDNA content and low fetal fraction (LFF) are two factors that affect the detection rate. Samples with low total cfDNA or LFF usually end up with "no-call" results, followed by the blood redraw and re-testing, which is inconvenient for pregnant women and clinicians.METHODS:We created mock trisomy 21 (T21) samples to investigate the effects of low total cfDNA with low LFF and possible solutions to increase their detection rate.RESULTS:Samples with low total cfDNA resulted in the decreased unique reads number and increased duplication rate. Abnormal correlations between library concentration and raw reads number and the coverage fluctuation value, ZsdNorm, were also discovered, suggesting that low total cfDNA could lead to the overestimation of the library concentration. Additionally, a non-reference-based derivative value method (DV method) was evaluated and the data demonstrated that the detection sensitivity of trisomy 21 was increased from 33.33% (6/18) to 94.44% (17/18) in samples with 5% fetal fraction comparing with the z-score approach, whereas for LFF (3.5%) group, the performance was raised from 0% to 35.29% (6/17).CONCLUSION:Low total cfDNA has significant impacts on NIPT performance by altering sequencing quality. The non-reference-based DV method could increase the T21 detection rate in samples with limited cfDNA content and 5% fetal fraction, but it was not as effective for those with LFF.

Objective Preterm birth (PTB) is a significant public health problem. We aimed to explore whether alpha fetal protein (AFP) or β-human gonadotropin (β-HCG) levels during pregnancy were associated with PTB in Chinese population. Study Design The clinical data collected Nanjing Medical University Affiliated Suzhou Hospital and Wuxi Maternity and Child Health Care Hospital between January 2006 and December 2011 were analyzed retrospectively. A total of 64,999 pregnant women were registered. In addition, 13,828 pregnant women were collected serum from the second trimester. The maternal serum AFP and β-HCG were measured by enzyme immunoassay. Results In our study, the rate of PTB is 6.23%. With each unit increase of maternal AFP concentration, the adjusted odds of PTB was increased by 69.3% (odds ratio = 1.693, 95% confidence interval: 1.434–1.999, p = 0.00). We set AFP concentrations as high, medium, and low levels. When comparing with low concentration of AFP, high concentration of AFP (≥1.179 M) was positively associated with PTB with adjustment for potential confounders (p < 0.05). Nevertheless, no statistically significant associations were observed between maternal β-HCG and PTB. Conclusion In this study, maternal AFP concentration was associated with increased risk of PTB.

Cysteine-rich angiogenic inducer 61 (CCN1/Cyr61) is a prompt response transcription product activated by growth factors. As a member of the CCN family, it mediates cell survival, proliferation, differentiation, migration, adhesion and synthesis of the extracellular matrix by binding directly to the integrins and heparin sulfate proteoglycans or activating multiple signaling transduction pathways. It has previously been demonstrated that CCN1/Cyr61 exhibits an important role in the female reproductive system during embryogenesis and tumorigenesis. However, the functions of CCN1/Cyr61 in the female reproductive system have not been systematically investigated, therefore, the primary aim of the present review is to introduce the role and function of CCN1/Cyr61 in the female reproductive system. The current review presents the molecular structure and biological function of CCN1/Cyr61 and provides detailed data on its expression pattern and contribution to the female reproductive system, including the role in embryogenesis and tumorigenesis.

Cryptococcus neoformans is an environmental pathogen requiring atmospheric levels of oxygen for optimal growth. Upon inhalation, C. neoformans disseminates to the brain and causes meningoencephalitis. However, the mechanisms by which the pathogen adapts to the low-oxygen environment in the brain have not been investigated. We isolated a C. neoformans strain with a small capsule from a host tissue, although this strain produces large capsules in normoxic conditions. We hypothesize that this difference in capsule size is attributed to hypoxia caused by chronic inflammatory response. This study investigated the effect of hypoxia on virulence factors (including capsule, melanin, urease, and phospholipase) of C. neoformans and conducted transcriptomic analyses of the virulence-associated genes. We found that C. neoformans grew under hypoxic condition, albeit slowly, and that hypoxia may have inhibited the capsule size, melanin production, and phospholipase and urease activities in C. neoformans .

The antifungal effects of ambroxol (Amb; the metabolite VIII of bromhexine) against Cryptococcus planktonic cells and mature biofilms were investigated in this study. Amb showed antifungal activity against planktonic cells and mature biofilms. Disk diffusion test similarly showed antifungal profile for planktonic cells. Furthermore, Amb was found to be synergetic with fluconazole against planktonic cells and reduced the adherence of cells to polystyrene. Our results suggest that Amb can inhibit cryptococcal cells and biofilms, indicating its potential role in the prevention and treatment of cryptococcosis.