Is intermediate risk really intermediate? Comparison of karyotype and non-invasive prenatal testing results of pregnancies at intermediate risk of trisomy 21 on maternal serum screening.

The purpose of this study was to assess the additional contribution of karyotyping compared with genome-wide non-invasive prenatal testing (NIPT) for pregnancies at intermediate risk for trisomy 21 (T21), calculated using the maternal serum screening without major structural anomalies detected through sonography. Karyotype results of all pregnancies undergoing invasive prenatal diagnostic testing between January 2013 and March 2022 were obtained from a large hospital-based laboratory. Pregnancies with no major structural anomalies on ultrasound (including soft markers) and an intermediate risk for T21 on maternal serum screening were included in this study.

Analysis of DUX4 Expression in Bone Marrow and Re-Discussion of DUX4 Function in the Health and Disease.

Objective: DUX4 is an embryonic transcription factor (TF) later silenced in somatic tissues, while active in germline testis cells. Re-expression in somatic cells has been revealed to be present in pathologic conditions such as dystrophy, leukemia, and other cancer types. Embryonic cells, cancer cells and testis cells that show DUX4 expression are pluri-multipotent cells.

Promising Perspective to Facioscapulohumeral Muscular Dystrophy Treatment: Nutraceuticals and Phytochemicals.

Facioscapulohumeral Muscular Dystrophy (FSHD) is in the top three list of all dystrophies with an approximate 1:8000 incidence. It is not a life-threatening disease; however, the progression of the disease extends over being wheelchair bound. Despite some drug trials continuing, including DUX4 inhibition, TGF-ß inhibition and resokine which promote healthier muscle, there is not an applicable treatment option for FSHD today.

Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia.

Childhood acute lymphoblastic leukemia (ALL) is the most common type of childhood leukemia. Specifically, ALL is a malignant disorder of the lymphoid progenitor cells, with a peak incidence among children aged 2-5 years. The t(12;21)(p13;q22) translocation occurs in 25 % of childhood B cell precursor ALL.

inv (4)(p13q13) in patient with essential thrombocythemia: A case report.

The inv (4)(p13q13) cytogenetic abnormality is uncommon in hematologic malignancies. So far, it has not been previously reported in patients with essential thrombocythemia (ET). We report a first case of ET with inv (4)(p13q13) karyotype in a 69-year-old female patient who developed myelofibrosis at follow up.

A familial interstitial 4q35 deletion with no discernible clinical effects.

Small deletions on the long arm of distal chromosome 4 do not appear to result in gross congenital malformations, with the most frequently reported clinical findings including mild to moderate intellectual disability, learning disabilities and minor dysmorphic features. Here we report on a cytogenetically detectable familial interstitial chromosome 4 long arm deletion with no discernible phenotypic effects in a mother and her two daughters. The karyotypes of the mother and her two daughters were: 46,XX,del(4)(q35.

Clinical expression of familial Williams-Beuren syndrome in a Turkish family.

Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability with a typical neurobehavioral profile, cardiovascular anomalies, and occasional infantile hypercalcemia. Majority of cases occur sporadically, and only a few cases of familial WBS have been reported. Although pre- and post-natal growth retardation is a common clinical feature of the syndrome, growth hormone deficiency is detected only in a few patients.

Sensorimotor polyneuropathy in patients with SMA type-1: electroneuromyographic findings.

Introduction: Generally, spinal muscular atrophy (SMA) is believed to be a pure motor neuron disease. We retrospectively evaluated our electrodiagnostic findings in SMA type 1 patients to demonstrate co-existence of sensorimotor neuropathies.

Methods: Electroneuromyographic (ENMG) studies in 15 patients (11 boys, 4 girls) were reviewed independently by 2 neurophysiologists.

The value of donor lymphocyte infusions in thalassemia patients at imminent risk of graft rejection following stem cell transplantation.

Background: The aim was to evaluate the feasibility of donor lymphocyte infusion (DLI) in transplanted patients with thalassemia who were at imminent risk of graft rejection (GR).

Procedure: We retrospectively evaluated outcomes in a cohort of 19 patients with thalassemia who received DLI following 21 transplantations. Patients were divided into three groups depending on indication and time of DLI: group I, mixed chimerism-level-3 (MC-level-3) within 2 months and subsequently receiving DLI; group II, MC-level-3 within 2 months and receiving deferred DLI beyond post-transplant 2.

Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.

Pure and complete 12p trisomy are rare. Here, we report on a unique patient with trisomy 12p syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype to be 47,XX,+fis(12)(p10)mat whereas the maternal one was 47,XX,-12,+fis(12)(p10),+fis(12) (q10).

Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype.

Objective: To present a familial case of Swyer syndrome.

Design: Case report.

Setting: Academic medical center.

Evaluation of PTEN and Mcl-1 expressions in NSCLC expressing wild-type or mutated EGFR.

Signaling pathways activated by epidermal growth factor receptors (EGFRs) are important in lung carcinogenesis. New treatment strategies with EGFR-targeting drugs provided improvements in management of lung cancer. However, molecular mechanisms underlying resistance to these drugs need to be evaluated.

Evaluation of eNOS gene polymorphisms in relation to BMD in postmenopausal women.

Objective: The aim of the present study was to evaluate the relations between T(-786)C and Glu298Asp polymorphisms of the endothelial nitric oxide synthase (eNOS) gene and BMD in postmenopausal Turkish women.

Methods: The T(-786)C and Glu298Asp polymorphisms were genotyped by PCR-RFLP method in 311 postmenopausal osteoporotic women (OP) and in 305 age-matched postmenopausal females (CG) with normal BMD.

Results: None of the SNPs of the eNOS gene was significantly associated with BMD at the lumbar spine, femoral neck, Ward's triangle and femoral trochanter in the combined group.

No association between bone mineral density and transforming growth factor beta gene T(861-20)-C polymorphism in Turkish postmenopausal women.

The aim of the study was to examine whether the TGF-beta1 T(861-20)-C gene polymorphism might be useful in identifying individuals with increased susceptibility to postmenopausal bone loss within the Turkish women population. T(861-20)-C polymorphism was genotyped in 616 postmenopausal women selected from the Turkish population: 311 postmenopausal osteoporotic women (OP) aged 45-65 years (mean age 58 years) and a control group (CG) of 305 postmenopausal women in the same age range (mean age 53 years) with normal bone mineral density. We have not found any significant differences in the frequency of the individual genotypes between the osteoporotic and control groups.

Lack of BCL-2 confers interferon-alpha sensitivity to B-cell lymphomas.

Hairy cell leukemia (HCL) is a chronic B-cell lymphoproliferative disorder with pathological manifestations usually including splenomegaly and pancytopenia. Interferons (IFNs), specifically of the alpha subtypes, have shown a significant anti-tumor effect in HCL patients, with improvement of hematological parameters within the first few months of treatment. However, the therapeutic effect of IFN-alpha is still rather limited.

Donor cell-derived acute myeloblastic leukemia after allogeneic peripheral blood hematopoietic stem cell transplantation for juvenile myelomonocytic leukemia.

Despite its rarity, donor cell leukemia (DCL) is a most intriguing entity. We report here the case of a 5 year-old girl with juvenile myelomonocytic leukemia and normal female karyotype who developed acute myeloblastic leukemia with a karyotype of 46, X, t(X; 7) (p21; p11.2), der(7) t(3; 7) (q13.

Differential PTEN protein expression profiles in superficial versus invasive bladder cancers.

Introduction: The prognostic significance of PTEN protein loss in bladder cancer is not well established. The objective of this study was to investigate the PTEN expression profile in superficial noninvasive papillary transitional cell carcinoma (TCC) versus invasive TCC and compared the results with pathological and clinical parameters.

Materials And Methods: Bladder tumor samples were obtained from 29 patients who underwent surgery for superficial (n=11) and invasive (n=18) bladder cancers at the Akdeniz University Hospital.

Existence of acute lymphoblastic leukemia and osteosarcoma in a child.

The existence of acute lymphoblastic leukemia (ALL) and osteosarcoma is described. An 8-year-old girl had osteosarcoma diagnosed on radiologic and pathologic examination during ALL maintenance treatment. Cytogenetic analyses in primary cell culture of osteosarcoma tissue from the patient showed complex chromosomal abnormalities including t(1;19), usually seen in B precursor cell ALL, and del 13, found in a great majority of primary osteosarcomas.