Ovarian carcinoma as an incidental finding during cesarean section in a preeclamptic woman: case report

Gynecologic malignancies are rarely associated with pregnancy and ovarian tumors diagnosed during cesarean section are very uncommon. A 38-year-old grandmultipara with no prenatal care was hospitalized at an estimated 28 weeks of gestation for high blood pressure and increased proteinuria but no other symptoms of preeclampsia. We present a rare case of advanced ovarian carcinoma diagnosed during cesarean section.     

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Mulibrey nanism is a rare autosomal-recessive disorder characterized by prenatal onset severe growth retardation and pericardial constriction associated with abnormalities of muscle, liver, brain and eye. More than 80% of previously reported patients are of Finnish origin in whom a founder mutation in the TRIM37 gene have been described. We report on a 7-year-old Turkish boy who presented with classical phenotypic features of mulibrey nanism. Mutation screening of the TRIM37 gene revealed that the proband had a homozygous two base pair deletion, c.1894_1895delGA, resulting in a frame-shift and a premature termination codon. Our proband is one of the rare examples of mulibrey nanism outside Finland and extends the mutation spectrum in this disorder.     

Contact-Free Support Structures for the Direct Metal Laser Melting Process

Although Direct Metal Laser Melting (DMLM), a powder bed fusion (PBF) Additive Manufacturing (AM) for metallic materials, provides many advantages over conventional manufacturing such as almost unlimited design freedom, one of its main limitations is the need for support structures beneath overhang surfaces. Support structures are generally in contact with overhang surfaces to physically prop them up; therefore, they need to be removed after manufacturing due to not constituting a part of the main component design. The removal of supports is a process sequence adding extra time and cost to the overall manufacturing process and could result in damaging the main component. In this study, to examine the feasibility of contact-free supports for overhang surfaces in the DMLM process, coupons with these novel types of supports were prepared from CoCrMo alloy powder. This study aims to understand the effect of two parameters: the gap distance between supports and overhang surfaces and the inclination angle of overhang surfaces, on the surface topography and microstructural properties of these surfaces. Visual inspection, roughness measurements, and optical microscopy were utilized as characterization methods The roughness parameters (Ra, Rq, and Rz) were obtained using the focus variation method, and optical microscope analysis was performed on the cross-sections of the overhang surfaces to investigate the sub-surface microstructure and surface topology. Results showed that contact-free supports have a positive effect on decreasing surface roughness at all build angles when the gap distance is correctly set to avoid sintering of the powder in between the overhang and supports or to avoid too large gaps eliminating the desired effect of the higher thermal conductivity.     

The Role of American Thyroid Association Pediatric Thyroid Cancer Risk Stratification and BRAFV600E Mutation in Predicting the Response to Treatment in Papillary Thyroid Cancer Patients ≤18 Years Old

Objective:This study aimed to evaluate the role of risk stratification by the American Thyroid Association (ATA) pediatric thyroid cancer risk levels and BRAF^V600E mutation to predict the response to treatment in papillary thyroid cancer (PTC) patients ≤18 years old.Methods:Clinical outcomes during a median period of 6 (2-21.8) years were assessed in 70 patients, according to ATA pediatric risk stratification, BRAF^V600E mutation status, and dynamic risk stratification (DRS) at final follow-up.Results:Of 70 patients, 44 (63%), 14 (20%), and 12 (17%) were classified initially as low-, intermediate-, and high-risk, respectively. BRAF^V600E mutation analysis data was available in 55 (78.6%) patients, of whom 18 (32.7%) had the BRAF^V600E mutation. According to the final DRS, 61 (87%), two (3%), six (9%), and one (1%) patients were classified as an excellent, incomplete biochemical, incomplete structural, and indeterminate response, respectively. All ATA low-risk patients showed excellent response to treatment, whereas the rate of excellent response was 65.4% in intermediate- and high-risk levels (p<0.001). The rates of excellent response in BRAF^V600E positive and negative patients were 83% and 92%, respectively (p=0.339). The rate of locoregional recurrence was significantly higher in BRAF^V600E positive vs negative patients (33.3% vs 2.7% respectively, p=0.001).Conclusion:ATA pediatric risk stratification is effective in predicting response to treatment in PTC patients ≤18 years old. The presence of BRAF^V600E mutation was highly predictive for recurrence but had no significant impact on the rate of excellent response to treatment at final follow-up.     

Isolation and characterization of thermophilic Campylobacter species from geese raised in Kars region (Turkey) using cultural,molecular and mass spectrometry methods

Background:Thermophilic Campylobacters are found in the digestive tract of wild and domestic poultry and can be transmitted to humans following their fecal discharges. Aims:This study aimed to isolate thermophilic Campylobacter by culture from cloacal swabs of geese, commonly breeding in Kars region, and to identify the isolates by PCR and mass spectrometry. Antibiotics susceptibility and resistance genes of the isolates were also analysed. Methods:The study included 400 cloacal swab samples of clinically healthy geese. The samples were cultured on mCCDA medium following the pre-enrichment in Preston broth. Identification of the isolates was performed by phenotypic methods, PCR, and MALDI-TOF MS. Antibiotic susceptibility and resistance genes of the isolates were analysed with the disc diffusion method and PCR, respectively. Results:Thermophilic Campylobacter spp. were isolated from 157 (39.3%) samples. 151 (96.2%) isolates were identified Campylobacter jejuni and 6 (3.8%) Campylobacter coli by the phenotypic tests and PCR. Among 125 isolates analysed by MALDI-TOF MS, 119 (95.2%) were identified C. jejuni and 6 (4.8%) C. coli. The isolates’ resistance to ampicillin, tetracycline, ciprofloxacin, gentamicin, and azithromycin were found 33.8%, 41.4%, 75.2%, 12.1%, and 7.6%, respectively. The distributions of bla_OXA61, tetO, gyrA, and aphA-3 genes were 3.2%, 90.8%, 50.8%, and 52.7%, respectively. Conclusion:Since geese are raised in pastures in the Kars region, protecting and not polluting the existing natural environment and preventing their contact with wild birds will prevent the spread of these microorganisms.Key Words: Antibiotic susceptibility, Goose, MALDI-TOF MS, PCR, Thermophilic Campylobacter     

Early and late diagnoses of 17β-Hydroxysteroid dehydrogenase type-3 deficiency in two unrelated patients

17β-hydroxysteroid dehydrogenase type 3 deficiency is a rare cause of 46 XY disorders of sexual development. Mutations in the HSD17B3 gene result in reduced activity of the 17β-HSD3 enzyme, decreasing the conversion of androstenedione to testosterone. In this report, two cases, admitted with different clinical findings in the neonatal and adolescent periods and were decided to be raised in different genders are presented. The first case who had complete female external genitalia presented on the third postnatal day with the complaint of swelling in the groin. He was decided to be raised as a male and was treated successfully with parenteral testosterone in order to increase phallus size before surgical correction of the external genitalia. The second case was an adolescent girl who presented due to pubertal virilisation and primary amenorrhoea and chose female gender. Molecular genetic analyses of the HSD17B3 gene revealed two different previously reported homozygous variants. We emphasise that patients with 17β-hydroxysteroid dehydrogenase type 3 deficiency can present with heterogeneous clinical findings in different age groups. Early diagnosis is important to prevent future gender confusion and related problems.