Effective use of skin microbiome signatures for fingerprint identification.

BACKGROUND: Recent advances have increased the importance of the human microbiome, including the skin microbiome. Despite the hand microbiome research, the factors affecting the composition of the hand microbiome and their personal characteristics are incompletely known. OBJECTIVES: Despite changing environmental factors and personal variation, we aimed to indicate the interpersonal distinction between skin microbiota using simple and rapid molecular methods. METHODS: Over a non-consecutive 10-day period, samples were taken from 10 adult individuals, and ribotyping analysis of the 16S and 23S genes of S. epidermidis was performed on each skin sample. Additionally, EcoRI and HindIII enzyme reactions and variable number tandem repeat (VNTR) reactions of S. epidermidis obtained from DNA samples were performed. The skin microbiomes of individuals were evaluated along with the microbiome profiles left on the surfaces they touched. RESULTS: In the environmental samples taken, it has been observed that people preserve their core skin microbiota characters and carry them to their environment. It was determined that the highest similarity rate was 77.14%, and the lowest similarity rate was 31.74%. CONCLUSION: Our study showed that the core skin microbiota retains its characteristics and leaves traces in environments. The fact that the personal microbiome remains unchanged despite environmental differences and has characteristic features has shown that it can be used in forensic sciences to distinguish individuals from each other. These results with simple and rapid methods further increased the importance and significance of the study. The findings indicate that personal skin microbiota can provide a significant contribution to criminal investigations by increasing accuracy and reliability, especially in forensic analyses.

Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.

PURPOSE: Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal recessive inherited allelic disorders, which share similar clinical features including microcephaly, intellectual disability, brain malformations, ocular abnormalities, and spasticity. Here, we revealed the functions of novel mutations in RAB3GAP1 in a Turkish female patient with MS and two siblings with WARBM. We also present a review of MS patients as well as all reported RAB3GAP1 pathogenic mutations in the literature. METHODS: We present a female with MS phenotype and two siblings with WARBM having more severe phenotypes. We utilized whole-exome sequencing to identify the molecular basis of these syndromes and confirmed suspected variants by Sanger sequencing. Quantitative (q) RT-PCR analysis was carried out to reveal the functions of novel splice site mutation detected in MS patient. RESULTS: We found a novel homozygous c.2607-1G>C splice site mutation in intron 22 of RAB3GAP1 in MS patient and a novel homozygous c.2187_2188delinsCT, p.(Met729_Lys730delinsIleTer) mutation in exon 19 of RAB3GAP1 in the WARBM patients. We showed exon skipping in MS patient by Sanger sequencing and gel electrophoresis. qRT-PCR analysis demonstrated the reduced expression of RAB3GAP1 in the patient with the c.2607-1G>C splice site mutation compared to a healthy control individual. CONCLUSION: Here, we have studied two novel RAB3GAP1 mutations in two different phenotypes; a MS associated novel splice site mutation, and a WARBM1 associated novel deletion-insertion mutation. Our findings suggest that this splice site mutation is responsible for milder phenotype and the deletion-insertion mutation presented here is associated with severe phenotype.

Real-life experience: sensitivity and specificity of nasal and saliva samples for COVID-19 diagnosis.

BACKGROUND: COVID-19 (coronavirus disease 2019) outbreak has spread rapidly around the world, continues to show its effect, and it is not clear how long it will continue. For the diagnosis of COVID-19, it is important to ensure the comfort of the patients and to protect the healthcare workers (HCWs) by reducing the use of protective equipment. AIMS: To evaluate or assess whether the samples taken by the patient for COVID-19 testing during this pandemic period can be used in real-life experience. METHODS: Three different samples (nasopharyngeal taken by the healthcare worker, nasopharyngeal, and saliva taken by the patient) from 132 patients were evaluated for the diagnosis of COVID-19. The sensitivity and specificity of the samples in the diagnosis of COVID-19 were compared with real-life experience. RESULTS: Paired analyzes were performed by comparing each sample taken by the healthcare worker with the sample taken by the patient. The sensitivity of the three samples (nasopharyngeal taken by the healthcare worker, nasopharyngeal, and saliva taken by the patient) in the diagnosis of the COVID-19 was (100%, 98.7%, and 96.1%, respectively) accepted to be accurate. CONCLUSIONS: The sample taken by the paramedic was compatible compared to the real-life experience for the samples taken by the patient in the COVID-19 pandemic period. During the pandemic that is unknown when it will end, this study demonstrated that taking the sample of the patient alone for the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) test is a beneficial approach to the protection of the healthcare worker, reducing the need for protective equipment, increasing the patient's comfort and rapid sampling.

MiR-221 as a pre- and postoperative plasma biomarker for larynx cancer patients.

OBJECTIVE: In order to identify a plasma microRNA (miRNA) signature of larynx cancer (LCa), we examined miRNAs profile of plasma samples obtained from 30 LCa patients (preoperative and postoperative serum samples) and 30 healthy controls. STUDY DESIGN: Basic science research study. METHODS: MicroRNA profiling of eight plasma samples (four from preoperative, four from control individuals) were performed using miRNA microarray. Two of the significantly deregulated miRNAs were selected for further confirmation in the remaining samples using quantitative reverse-transcription polymerase chain reaction (qRT-PCR). RESULTS: Microarray profiling and qRT-PCR analysis showed that miR-221 was upregulated in LCa plasma samples. Further qRT-PCR analysis demonstrated that miR-221 was at normal levels in postoperative plasma samples. CONCLUSIONS: Plasma miR-221 may have a potential as a novel diagnostic/prognostic marker and might be considered as a therapeutic target in LCa. LEVEL OF EVIDENCE: N/A.