Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia.

Neurofibromatosis (NF) is a genetic disease in which the lungs are rarely involved. However, in NF cases with lung involvement, chest computed tomography may show bilateral basal reticulations, apical bullae, and cysts without bronchiectasis. Herein, we report a patient diagnosed with NF on the basis of the results of genetic testing who presented with early-onset wet cough and bronchiectasis. Considering the differential diagnosis of bronchiectasis combined with his early-onset wet cough, sinusitis, and sperm quality decline, we considered the possibility of primary ciliary dyskinesia (PCD). Further electron microscopy analysis of cilia and identification of homozygous mutations in the RSPH4A gene confirmed the diagnosis of PCD. Therefore, for patients with NF, when an image change exists in the lungs that does not correspond to NF, the possibility of other diagnoses, including PCD, must be considered.

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

BACKGROUND: Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were conducted in Chinese patients. SUBJECTS AND METHODS: A total of 20 individuals from 19 families were diagnosed with CF in this study. We analyzed the clinical features and screened all coding exons of CFTR using a combination of Sanger sequencing and multiplex ligation-dependent probe amplification analysis. RESULTS: The median age at onset was 9.3 years in our cohort, while the median age at diagnosis was 19 years. The respiratory system was most frequently affected in this study: all patients (100%, 19/19) presented diffuse bronchiectasis and 61.1% (11/18) of patients showed a forced expiratory volume in 1 s below 80% predicted. Six patients (6/20, 30%) exhibited allergic bronchopulmonary aspergillosis (ABPA). Only 4 (4/20, 20%) patients presented pancreatic exocrine insufficiency (PI). Three adult male patients receiving examinations for congenital bilateral absence of the vas deferens were all found positive for the condition. A total of 22 distinct mutations were detected in this cohort, with the variant p.G970D as the most common variant (12/38 alleles, 31.6%). Four variants (p.Y109D, p.I203F, p.D572E, and exon 2-3 deletion) were novel, which expanded the mutation spectrum of Chinese CF patients. CONCLUSIONS: Chinese CF patients showed different clinical features and a distinct CFTR mutation spectrum compared with Caucasians. There is a significant diagnosis delay, suggesting the current underdiagnosis of CF in China.

Cloning and functional characterization of SAD genes in potato.

Stearoyl-acyl carrier protein desaturase (SAD), locating in the plastid stroma, is an important fatty acid biosynthetic enzyme in higher plants. SAD catalyzes desaturation of stearoyl-ACP to oleyl-ACP and plays a key role in determining the homeostasis between saturated fatty acids and unsaturated fatty acids, which is an important player in cold acclimation in plants. Here, four new full-length cDNA of SADs (ScoSAD, SaSAD, ScaSAD and StSAD) were cloned from four Solanum species, Solanum commersonii, S. acaule, S. cardiophyllum and S. tuberosum, respectively. The ORF of the four SADs were 1182 bp in length, encoding 393 amino acids. A sequence alignment indicated 13 amino acids varied among the SADs of three wild species. Further analysis showed that the freezing tolerance and cold acclimation capacity of S. commersonii are similar to S. acaule and their SAD amino acid sequences were identical but differed from that of S. cardiophyllum, which is sensitive to freezing. Furthermore, the sequence alignments between StSAD and ScoSAD indicated that only 7 different amino acids at residues were found in SAD of S. tuberosum (Zhongshu8) against the protein sequence of ScoSAD. A phylogenetic analysis showed the three wild potato species had the closest genetic relationship with the SAD of S. lycopersicum and Nicotiana tomentosiformis but not S. tuberosum. The SAD gene from S. commersonii (ScoSAD) was cloned into multiple sites of the pBI121 plant binary vector and transformed into the cultivated potato variety Zhongshu 8. A freeze tolerance analysis showed overexpression of the ScoSAD gene in transgenic plants significantly enhanced freeze tolerance in cv. Zhongshu 8 and increased their linoleic acid content, suggesting that linoleic acid likely plays a key role in improving freeze tolerance in potato plants. This study provided some new insights into how SAD regulates in the freezing tolerance and cold acclimation in potato.

[Clinical significance of mutant p53 protein expression in lung adenocarcinoma].

BACKGROUND: P53 is a tumor protein that acts as a tumor suppressor. The mutation of P53 may cause loss of tumor suppressor functions and gain of functions favoring cellular proliferation and apoptosis inhibition. The clinical implications of the tumor protein P53 gene (TP53) mutation in lung adenocarcinoma are indefinite. The aim of this study is to explore the clinical significance of the mutant P53 protein expression in lung adenocarcinoma tissues. METHODS: The clinicopathological data of 120 lung adenocarcinoma patients who underwent surgery were retrospectively analyzed. The mutant P53 protein expression was detected using the immunohistochemical method. Furthermore, the relationship between the mutant P53 expression and the clinicopathological parameters was analyzed using the Chi-square test, whereas that between the mutant P53 expression and overall survival was estimated using the Kaplan-Meier method and Cox regression model. RESULTS: The mutant P53 protein expression rate was 63.3%. Accordingly, the mutant P53 expression was significantly associated with tumor size (P=0.041) and clinicopathological stage (P=0.025). On the one hand, a univariate survival analysis showed that tumor size (P=0.031), lymph node metastasis (P<0.001), clinicopathological stage (P<0.001), and mutant P53 expression (P=0.038) were associated with overall survival. On the other hand, a multivariate survival analysis showed that lymph node metastasis (P=0.014) was an independent poor prognostic factor for overall survival. CONCLUSIONS: Patients with lung adenocarcinoma with mutant TP53 had a poor outcome. Accordingly, the mutant P53 protein may serve as a molecular prognosis marker for lung adenocarcinoma patients.

UVA irradiation induced heme oxygenase-1: a novel phototherapy for morphea.

Long wave UVA radiation (340-400 nm) causes detrimental as well as beneficial effects on human skin. Studies of human skin fibroblasts irradiated with UVA demonstrate increased expression of both antifibrotic heme oxygenase-1 (HO-1) and matrix metalloproteinase 1 (MMP-1). The use of UVA-induced MMP-1 is well-studied in treating skin fibrotic conditions such as localized scleroderma, now called morphea. However, the role that UVA-induced HO-1 plays in phototherapy of morphea has not been characterized. In the present manuscript, we have illustrated and reviewed the biological function of HO-1 and the use of UVA1 wavebands (340-400 nm) for phototherapy; the potential use of HO-1 induction in UVA therapy of morphea is also discussed.