A Fetus with Maternal Uniparental Disomy on Chromosome 20: Case Report with Genetic Analysis and Prenatal Diagnosis.

BACKGROUND: A fetus with increased copy number of chromosome 20 was identified by NIPT. Here we utilize several genetic tests and analyses to illuminate the etiology of such aneuploidy. METHODS: Amniotic fluid cells were extracted from pregnant woman and sent for karyotype and chromosomal microarray analysis (CMA). Trio pedigree analysis was conducted with Chromosome Analysis Suite and uniparental disomy (UPD)-tool software. RESULTS: CMA identified consistent results, which were 2 regions of homozygosity: arr[GRCh37]20p12.2q11.1 (11265096_26266313)hmz and arr[GRCh37]20q11.21q13.2(29510306_54430467)hmz. The trio pedigree analysis discovered that the fetal chromosome 20 was the entire maternal UPD mosaic with isodisomy and heterodisomy. CONCLUSIONS: When a large segment of chromosome is homozygous, appropriate genetic tests are required to find the potential mechanisms for UPD formation.

Clinical features of patients with talaromycosis marneffei and microbiological characteristics of the causative strains.

BACKGROUND: Talaromyces marneffei (T. marneffei) is a temperature-dependent dimorphic fungus that is mainly prevalent in Southeast Asia and South China and often causes disseminated life-threatening infections. This study aimed to investigate the clinical features and improve the early diagnosis of talaromycosis marneffei in nonendemic areas. METHODS: We retrospectively analyzed the medical records of six cases of T. marneffei infection. We describe the clinical manifestations, laboratory tests, and imaging manifestations of the six patients. RESULTS: Talaromyces marneffei infection was confirmed by sputum culture, blood culture, tissue biopsy, and metagenomic next-generation sequencing (mNGS). In this study, there were five disseminated-type patients and two HIV patients. One patient died within 24 h, and the others demonstrated considerable improvement after definitive diagnosis. CONCLUSIONS: Due to the lack of significant clinical presentations of talaromycosis marneffei, many cases may be easily misdiagnosed in nonendemic areas. It is particularly important to analyze the imaging manifestations and laboratory findings of infected patients. With the rapid development of molecular biology, mNGS may be a rapid and effective diagnostic method.

[Diagnostic Value of ROC Curve Evaluating Serum Related Indexes for Bloodstream Infection in Patients with Hematopathy].

AbstractObjective: To evaluate the diagnostic value of serum PCT, CRP and SAA for bloodstream infection(BSI) in patients with hematopathy. METHODS: Sixty hematopathy patients with bloodstream infection from July 2016 to June 2018 were selected and enroued in bloodstream infection group. Sixty-five patients with negative blood culture during the same period were selected and enrolled in non-bloodstream infection group. The ROC curves were drawn and used to eualuate the diagnostic value of above montioned indexes. RESULTS: The levels of PCT, CRP and SAA in the bloodstream infection group were higher than those in the non-bloodstream infection group (P<0.05). ROC curve showed that AUC values of PCT, CRP, SAA and the combined test detection were 0.868, 0.746, 0.678 and 0.900, respectively, there was no significant difference in AUC between combined test and PCT test (P>0.05). AUC of combined test and PCT test were higher than those of CRP and SAA test, and the difference was statistically significant (P<0.05), but there was no significant difference in AUC between CRP and SAA (P>0.05). The optimal PCT detection threshold was 0.49 ng/ml, the sensitivity and specificity were 75.0% and 83.1%, respectively. The optimal critical value for CRP detection was 15.76 mg/L, the sensitivity and specificity were 60.0% and 80.0% respectively. The optimal SAA detection threshold was 35.66 mg/L, the sensitivity and specificity were 81.7% and 53.8%, respectively. CONCLUSION: PCT, CRP and SAA detection have good diagnostic value for blood stream infection in patients with hematopathy. The diagnostic value of PCT is better than CRP and SAA, and there is no significant difference in diagnostic value between combined test and PCT test.

Investigation of antibiotic resistance determinants and virulence factors of uropathogenic Escherichia coli.

Multidrug-resistant (MDR) uropathogenic Escherichia coli (UPEC) are prevalent throughout the world resulting in a major public health burden. In this research, we isolated and identified 28 MDR UPEC from one university hospital in China, investigated MDR and pathogenic mechanisms by PCR, including 55 antibiotic resistance determinants (ARDs) genes, 13 genetic markers of mobile genetic elements (MGEs) and 6 virulence factors (VFs) genes. In these isolates, we identified 23 ARDs genes and 6 genetic markers of MGEs that played a key role in MDR phenotypes. In addition, we found 2 VFs genes, hofQ and ompT, which could be associated with pathogenicity and invasiveness of these strains in urinary tract infections (UTIs).

Docking of CDK1 with antibiotic drugs revealed novel therapeutic value in breast ductal cancer in situ.

The aim of our research is to identify potential genes associated with Ductal carcinoma in situ (DCIS) through microarrays. The microarray dataset GS54665 were downloaded from the GEO(Gene Expression Omnibus) database. Dysregulated genes were screened and their associations with DCIS was analyzed by comprehensive bioinformatics tools. A total of 649 differential expression genes were identified between normal and DCIS samples, including 224 up-regulated genes and 425 down-regulated genes. Biological process annotation and pathway enrichment analysis identified several DCIS-related signaling pathways. Finally, PPI network was constructed with String website in order to get the hub codes involved in Ductal carcinoma in situ. We thus concluded that Five genes: CDK1, CCNB2, MAD2L1, PPARG, ACACB were finally identified to participate in the regulation and serve as potential diagnosis signatures in in Ductal carcinoma in situ. Finally, complmentarity between CDK1 and three drugs, Aminophenazone, Pomalidomide and the Rosoxacin, implies novel pharmacological value of those drugs in breast cancer.

[Rapid differential diagnosis of thalassemia trait and iron-deficiency anemia with stepwise regression analysis].

OBJECTIVE: To establish a method for rapid differential diagnosis of thalassemia trait (TT) and iron-deficiency anemia (IDA) using stepwise regression analysis. METHODS: Stepwise regression equation was established for differential diagnosis of TT and IDA according to the red cell index, and the accuracy of the differential diagnosis was evaluated using blind analysis. RESULTS: The accuracy of this equation for differential diagnosis of TT and IDA was 86.82%. The sensitivity, specificity and Youden's index in prediction of TT and IDA were 94.29%, 79.66%, 73.9 and 76.92%, 90.52%, and 67.4%, respectively. CONCLUSION: The stepwise regression equation using the red cell index is concise, rapid, and sensitive in differential diagnosis of TT and IDA, and can be well applicable in clinical practice.

Formation of Three-Membered Rings by S(H)i Displacement. Reverse of Cyclopropyl Ring Opening(1).

The general methods, photoinitiated or peroxide-initiated free radical chain additions of halomethanes to olefins, yield 1,2-addition products at temperatures ranging from 20 to 100 degrees C. At lower temperatures, -42 to -104 degrees C, a competitive reaction, subsequent to the addition of CCl(2)X(*), yields alkylcyclopropanes. The reactions of 1-octene or 1-hexene and 1-methylcyclohexene with atomic hydrogen carried out in the presence of several transfer agents (CCl(4), CCl(3)Br, CCl(2)Br(2)) initiate a radical chain addition of CCl(2)X(*) and yield cyclized materials resulting from the S(H)i displacement of halogen by a carbon-centered radical. The radical displacement of a halogen on carbon, the reverse of homolytic displacement on cyclopropyl carbon, is dominant at low temperatures. The rate constants for cyclization (k(c)) vs transfer with halomethane (k(t)) showed isokinetic temperatures of -46 degrees C (CCl(4), 1-hexene); -35 degrees C (CCl(4), 1-methylcyclohexene). The isokinetic temperatures for the reactions of the two substrates carried out in the presence of BrCCl(3) were calculated as -204 degrees C (1-octene) and -109 degrees C (1-methylcyclohexene).