BRAF mutation,TERT promoter mutation,and HER2 amplification in sporadic or neurofibromatosis-related neurofibromas and malignant peripheral nerve sheath tumors: do these molecules have a signature in malignant transformation?

Peripheral nerve sheath tumors may occur sporadically or related to neurofibromatosis (NF). Unless the mechanisms of tumorigenesis in NF related malignant peripheral nerve sheath tumors (MPNST) are better understood, it remained unclear in sporadic cases. We aimed to investigate the genetic route for malignancy in both individuals with NF-1 and sporadic ones to open a way for targeted therapies in the future. We investigated the role of HER2 with Dual ISH DNA Probe Cocktail test, BRAF mutation (exon 15) and TERT promoter mutation frequency with Sanger sequencing method in respectively 25 sporadic neurofibromas, 25 NF-1 related neurofibromas and 25 MPNST cases from two institutes. Categorical data were analyzed and summarized as frequency and percentage. Statistical analysis was done with SPSS v.22 statistical package, and the statistical significance level was considered as 0.05. We identified TERT promoter mutation only in one sporadic MPNST (4%) and no BRAF mutation in any case. HER2 amplification is found in 10/25 (40%) MPNST cases. No mutations or gene amplification detected in neurofibromas (p < 0.001). MPNSTs are sarcomas with poor prognosis and limited treatment options. TERT promoter mutations and HER2 amplification may play a putative role in therapeutic purposes.     

The role of HRCT versus CXR in children with recurrent pulmonary infections

The purpose of this study is to evaluate the role of high-resolution computed tomography (HRCT) versus chest radiography (CXR) in children with recurrent respiratory infections. Fifty-one cases, aged 2 months-13 years, who had a history of recurrent respiratory infections, were examined with CXR and HRCT. HRCT showed that 16/51 of the cases had bronchiectasis. CXR revealed findings of bronchiectasis only in 5 of the 16 cases. HRCT showed peribronchial thickening in 18 cases, whereas CXR showed the same finding in 5 patients. Overall, HRCT showed the underlying pathology and sequel of pulmonary lesions in 22 out of 51 cases, and linear densities in 12. Compared with the CXR, HRCT gives much more information.     

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of €75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.     

Does SARS-CoV-2 affect cochlear functions in children?

Objectives:To determine the influence of coronavirus disease-19 (COVID-19) on cochlear tasks of children who had COVID-19 previously, and the relevance among disease seriousness and cochlear involvement by otoacoustic emissions (OAEs).Methods:The study included 24 hospitalized children after COVID-19 diagnosis, 23 pediatrics that received outpatient treatment, and 21 children who were without COVID-19 diagnosis as the control group between June 2021 and July 2021. Transient evoked otoacoustic emission (TEOAE), distortion product otoacoustic emission, and contrlateral suppression of otoacoustic emission measurements were carried out for each child. Symptoms of patients, the treatments they received, and the duration of hospitalization of the children in the hospitalized group were recorded.Results:The comparison of TEOAE test results under masking showed a considerable difference between 3 groups at 1 kHz (p=0.033) and 4 kHz (p=0.021) frequencies (p<0.05). Distortion product otoacoustic emission test results of hospitalized outpatient and control group showed a statistically significant difference at 2 kHz among themselves (p=0.009).Conclusion:Our results suggest that severe acute respiratory syndrome coronavirus-2 may influence the medial olivocochlear system of children and have irreversible effects on the cochlear functions. Early detection of problems that may affect cochlear functions is a special critical task, especially in children, who are a particularly vulnerable group in terms of hearing and related speech problems.     

Congenital hypothyroidism due to maternal radioactive iodine exposure during pregnancy

Radioactive iodine (RAI) is used effectively in the treatment of hyperthyroidism and thyroid cancer, but it is contraindicated during pregnancy. RAI treatment during pregnancy can lead to fetal hypothyroidism, mental retardation and increased malignancy risk in the infant. Pregnancy tests must be performed before treatment in all women of reproductive age. However, at times, RAI is being used before ruling out pregnancy. We herein present a male newborn infant with congenital hypothyroidism whose mother was given a three-week course of methimazole therapy for her multiple hyperactive nodules and subsequently received 20 mCi RAI during the 12th week of her pregnancy. The patient was referred to our neonatology unit at age two weeks when his thyrotropin (TSH) level was reported to be high in the neonatal screening test. Physical examination was normal. Laboratory investigations revealed hypothyroidism (free triiodothyronine 1.55 pg/mL, free thyroxine 2.9 pg/mL, TSH 452 mU/L, thyroglobulin 20.1 ng/mL). The thyroid gland could not be visualized by ultrasonography. L-thyroxine treatment was initiated.     

Comparison of metabolic profile and abdominal fat distribution between karyotypically normal women with premature ovarian insufficiency and age matched controls

Objective

We designed a prospective case-control study in order to investigate the lipid profiles, insulin sensitivity, presence of metabolic syndrome (MetS) and the abdominal fat distribution in karyotypically normal women with premature ovarian insufficiency (POI).

Methods

Anthropometric measurements, FSH, estradiol, total testosterone (T), sex hormone binding globulin (SHBG), free androgen index (FAI), fasting glucose and insulin, homeostatic model for insulin resistance (HOMA-IR), lipid profile, the prevalence of MetS and ultrasonographic abdominal fat measurements were assessed in 56 women with POI and 59 healthy controls at the same age range.

Results

Serum levels of T, SHBG and FAI were not significantly different between both groups. Total cholesterol (TC) and high-density lipoprotein cholesterol (HDL-C) were higher in women with POI. There were no differences in glucose, insulin, HOMA-IR, low-density lipoprotein cholesterol (LDL-C), triglyceride levels between the two groups. A significant positive correlation was identified between T and TG and also between FAI and LDL-C; SHBG levels were correlated inversely with FSH, and positively with HDL-C in women with POI. The presence of MetS was significantly higher in women with POI. The subcutaneous, preperitoneal and visceral fat thicknesses were not significantly different between the groups.

Conclusions

Early cessation of ovulatory function may associated with higher levels of serum TC and HDL-C, but does not seem to cause differences in abdominal fat distribution in women with POI. POI is associated with higher risk of MetS.     

Evaluation of migraine patients with optical coherence tomography angiography

International Ophthalmology - To compare optical coherence tomography angiography (OCTA) findings in cases with migraine and healthy controls. Thirty-eight eyes of 19 patients with migraine with...     

Preliminary antimycobacterial study on selected Turkish plants (Lamiaceae) against <Emphasis Type="Italic">Mycobacterium tuberculosis</Emphasis> and search for some phenolic constituents

Background

The global resurgence of tuberculosis is a significant threat. Lamiaceae members have been used in folk remedies for centuries. This study was designed to assess the in-vitro antimycobacterial activity of eighteen crude extracts from six plants (Lamiaceae) and to characterize their phenolic and flavonoid compounds.

Methods

Six Turkish medicinal plants of the family Lamiaceae (Stachys tmolea Boiss., Stachys thirkei C. Koch, Ballota acetabulosa (L.) Benth., Thymus sipthorpii Benth., Satureja aintabensis P.H. Davis, and Micromeria juliana (L.) Benth. ex Reich.) were collected in 2009 – 2010. Dried and crushed plant samples were subjected to sequential extraction with petroleum ether, ethyl acetate, and methanol in order of increasing polarity. A broth microdilution method was employed to screen extracts against four mycobacterial strains of Mycobacterium tuberculosis. Phenolic and flavonoid compounds were characterized by liquid chromatography–mass spectrometry.

Results

S. aintabensis, T. sibthorpii, and M. juliana were found to develop considerable activity against the four strains of M. tuberculosis with the minimal inhibitory concentrations value of 12.5-100 μg/ml. S. aintabensis and T. sibthorpii extracts killed M. tuberculosis with the minimum bactericidal concentration value of 50–800 μg/ml. On the basis of these prominent antimycobacterial activity, we suggest that they could be a source of natural anti-tuberculosis agents.

Conclusion

S. aintabensis and T. sibthorpii showed activity by killing Mycobacteria strains. The major phenolic compound was rosmarinic for T. sibthorpii and S. aintabensis. Flavonoids might be “a modal” for the drug design.