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A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

Abstract

Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity. An 8-month-old boy was admitted to our pediatric neurology clinic with macrocephaly. His brain magnetic resonance imaging (MRI) revealed bilateral, diffuse, symmetric structural white matter abnormalities, relatively sparing the cerebellum and bilateral subcortical temporal cysts. The diagnosis of Van der Knaap disease was suspected based on the clinical features and imaging findings and the genetic analysis revealed a novel homozygous c.768+2T>C mutation of the MLC1 gene. For determination of the novel splice-site mutation’s effect, cDNA amplification was performed. cDNA analysis showed that the splice-site c.768+2T>C mutation gave rise to exon 9 skipping.

Open access
Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings

Abstract

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the FLNA gene (NM_ 001110556.1: c.620C>T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I.

Open access
Results of liquid biopsy studies by next generation sequencing in patients with advanced stage non-small cell lung cancer: Single center experience from Turkey

Abstract

Several studies demonstrated the utility of plasma-based cell-free circulating tumor DNA (ccfDNA) in determination of mutations in non-small cell lung cancer (NSCLC). We aimed to report our results of next generation sequencing (NGS) using liquid biopsy in patients with NSCLC. Patients with advanced stage NSCLC were enrolled and their genomic profiling results were recorded. Next generation sequencing targeted panel includes 19 hot-spot genes. The plasma was separated from the peripheral blood sample and ccfDNAs were isolated for NGS. We performed genomic profiling in 100 patients (20 females and 80 males) with a median age of 59.3 (range 26-79). A second liquid biopsy was performed in eight patients who developed progressive disease after the first treatment. The study population had adenocarcinoma (AC) (n = 73), squamous cell carcinoma (SCC) (n = 14), or NSCLC-NOS (not otherwise specified) (n = 13). In the SCC group, three of 14 patients had variants on EGFR and MET genes. In the AC and NSCLC-NOS groups, 39 out of 86 patients (45.3%) had variants. The most common one was in the EGFR gene (n = 27, 31.4%) including seven mutations related to drug resistance and two were polymorphisms. Three patients had both driver and resistance mutations (EGFR T790M, n = 2; KRAS exon 2 G12S and MET exon 14 E1012K, n = 1). Fifteen patients (17.4%) had an activating EGFR mutation and eight patients (9.3%) had variants in the KRAS gene. We reported our results regarding genomic profiling related to treatment using liquid biopsy in patients with NSCLC. Advantages of this method are the non invasiveness and reproducibility.

Open access
TWIST1 Gene expression as a biomarker for predicting primary doxorubicin resistance in breast cancer

Abstract

Doxorubicin is one of the most commonly used chemotherapeutic agents for adjuvant chemotherapy of breast cancer. In the studies focused on finding biomarkers to predict the response of the patients and tumors to the drugs used, the Twist transcription factor has been suggested as a candidate biomarker for predicting chemo-resistance of breast tumors. In this study, we aimed to investigate the relationship between TWIST transcription factor expression and the effectiveness of doxorubicin treatment on directly taken primary tumor samples from chemotherapy-naive breast cancer patients. Twenty-six primary breast tumor samples taken from 26 different breast cancer patients were included in this study. Adenosine triphosphate tumor chemo-sensitivity assay (ATP-TCA) has been used to determine tumor response to doxorubicin and real-time reverse-transcription polymerase chain reaction (RT-PCR) was used for analyzing the TWIST1 gene expression of tumors. There was a significant difference in TWIST gene expression between responder and non responder tumors (p <0.05). The TWIST gene expression of the drug-resistant group was higher than the responsive group. This difference was not dependent on the histopathological features of tumors. In conclusion, compatible with earlier studies that have been performed with cell lines, the current study supports the role of higher TWIST gene expression as a biomarker for predicting the response of breast tumors to chemo-therapeutic agent doxorubicin.

Open access
Changes in protein patterns of Staphylococcus aureus and Escherichia coli by silver nanoparticles capped with poly (4-styrenesulfonic acid-co-maleic acid) polymer

Abstract

Background

While silver nanoparticles (AgNPs) are increasingly attractive as an antibacterial agent in many applications, the effect of AgNPs on bacterial protein profiles, especially AgNPs stabilized by polymeric molecules, is not well understood.

Objectives

To investigate the changes in bacterial protein patterns by AgNPs capped with poly (4-styrenesulfonic acid-co-maleic acid) (AgNPs-PSSMA) polymer toward Staphylococcus aureus ATCC 25923 and Escherichia coli ATCC 25922.

Methods

The growth of bacteria after incubated with AgNPs-PSSMA for different time intervals was determined by optical density at 600 nm. Their protein patterns were observed using sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE), and the proteomic analysis of extracted proteins was determined by liquid chromatography-tandem mass spectrometry (LC–MS/MS).

Results

AgNPs-PSSMA was able to inhibit the growth of both S. aureus and E. coli cells. The treated bacterial cells expressed more proteins than the untreated cells as seen from SDS-PAGE study. Nanosilver (NS) caused the upregulation of metabolic gene, waaA, in S. aureus cells. For E. coli cells, the upregulated proteins were metabolic genes (srlB, fliE, murD) and other genes dealt with DNA replication (dinG), DNA–RNA transcription (yrdD), RNA– protein translation (rplD), molecular transport (sapF), and signal transduction (tdcF).

Conclusions

The antibacterial effect of AgNPs-PSSMA may arise by changing the bacterial proteins and thus interfering with the normal cell function.

Open access
Clinical subtypes of breast cancer in Thai women: a population-based study of Chiang Mai province

Abstract

Background

The change over time of distribution of breast cancer subtypes using population-based data has not been reported.

Objective

To describe the change over time of the distribution of female breast cancer by clinical subtype among the population in Chiang Mai, Thailand.

Methods

Data of breast cancer patients from Chiang Mai Cancer Registry, diagnosed from 2004 to 2013 were combined with immunohistochemical status from medical record, and used to describe the proportions of clinical breast cancer subtypes: (1) luminal A-like (ER+/PR+ and HER2-), (2) luminal B-like (ER+/PR+ and HER2+), (3) HER2 (ER- and PR- and HER2+), (4) triple-negative (ER- and PR- and HER2-). The distribution of breast cancer subtypes by age group was also described.

Results

Among 3,228 female breast cancer cases diagnosed during 2004–2013, the median age was 52 years and most patients presented at the regional stage. The unknown tumor subtype was lower than 25% in the periods 2008– 2009, 2010–2011, and 2012–2013. In those periods, the proportions of luminal A-like were 33%, 36%, and 48%; the proportions of luminal B-like were 14%, 20%, and 16%, the proportions of HER2 were 15%, 14%, and 13%; and the proportions of triple-negative were 16%, 14%, and 13%, respectively. In comparison with other groups, women aged ≥60 years had a significantly higher proportion of luminal A-like (P = 0.001), while women aged <40 years tended to have a higher proportion of triple-negative (P = 0.10).

Conclusions

The proportion of breast cancer with luminal subtypes is increasing. Thus, in the future, treatment protocols with a variety of hormone therapies should be provided in order to improve efficacy and coverage of treatment for this population.

Open access
Early detection of active glomerular lesions in dogs and cats using podocin

Abstract

In veterinary medicine, sensitive and specific markers of the early stages of renal failure still remain to be established. Podocytes could be a promising diagnostic tool in veterinary nephrology, especially in the differentiation of active pathological disease and glomerulopathies. Podocin is one of the robust proteins exploitable in detection of podocyturia. This article presents podocyte detection in urine for diagnostic purposes in veterinary medicine using a variety of methods. We describe the advantages and disadvantages of the immunohistochemical technique currently used, and of scanning microscopy, chromatography, and immunostaining. The identification of podocin-positive cells is a promising diagnostic tool in the detection of the early stages of glomerular basement membrane damage. The detection of renal failure prior to the occurrence of azotaemia is of high clinical importance from the clinical and scientific points of view.

Open access
Elaboration of triplex PCR for detection of selected viral infections in waterfowl

Abstract

Introduction

Viral infections are the greatest threat to waterfowl and cause significant economic losses. Diagnosis and differentiation of three goose viruses is difficult in the field and often requires laboratory confirmation. Therefore, the aim of the study was to develop a triplex PCR and optimise its parameters for simultaneous detection of DNA of goose parvovirus (GPV), goose polyomavirus (GHPV), and goose circovirus (GoCV).

Material and Methods

The DNA of viruses isolated from field cases from the National Veterinary Research Institute’s own collection was used for the study. The primer attachment temperature, the number of reaction cycles, and the Taq DNA polymerase and Mg2+ concentrations were optimised. The sensitivity and specificity of this triplex PCR was also determined.

Results

Based on the obtained results, triplex PCR parameters were optimised for simultaneous detection of DNA of GPV, GHPV, and GoCV in one sample. The following PCR products of the expected size were obtained: GPV DNA of 806 bp, GoCV DNA of 571 bp, and GHPV DNA of 180 bp.

Conclusion

The developed triplex PCR method proved to be useful for simultaneous detection of infections with three waterfowl viruses and will be used in relevant laboratory diagnostics.

Open access
Endoscopic finding and treatment outcome of children with Helicobacter pylori infection in lower northern Thailand

Abstract

Background

Helicobacter pylori infection is one of the predisposing factors for gastritis, peptic ulcer, and duodenal ulcer. Definite diagnosis of H. pylori infection is important in planning effective medical management. However, confirming the diagnosis through bacterial culture takes a number of days, and thus delays treatment.

Objectives

To examine endoscopic findings in children associated with chronic abdominal pain and H. pylori infection to aid in early diagnosis. We also evaluated treatment outcome of H. pylori infection.

Methods

A retrospective study was performed by reviewing the medical records of children under 15 years of age with chronic abdominal pain who underwent esophagogastroduodenoscopy (EGD) between 2011 and 2017. According to 2016 Joint ESPGHAN/NASPGHAN Guidelines, H. pylori infection was defined by positive tests for both histopathology test and rapid urease test (RUT). The EGD finding, RUT, histopathologic finding, and treatment outcome were recorded.

Results

Forty-eight children presented with chronic abdominal pain (male 47.9%, female 52.1%, mean age was 8.44 ± 2.97 years). Twelve children out of 48 had H. pylori infection (12/48, 25%). Eight among the 12 children had antral nodularity (8/12), wherein there was no antral nodularity in children without H. pylori infection (0/36). This difference was statistically significant (P < 0.001). Sensitivity and specificity of antral nodularity finding for H. pylori infection were 66.7% and 100%, respectively. Eradication of H. pylori infection with standard regimen improved the abdominal pain within 4 weeks.

Conclusion

The occurrence of antral nodularity in endoscopic finding was significantly associated with H. pylori infection. In addition, antral nodularity finding showed a good sensitivity and high specificity for the diagnosis of H. pylori infection.

Open access