A Novel and Robust Protocol for Differentiation of SH-SY5Y Neuroblastoma Cells into Neuron Like Cells.

Introduction: Human neuroblastoma cell line SH-SY5Y is a frequently used experimental cellular model in a variety of neuropsychiatric and neurodegenerative disorders. It is crucial to use a culture protocol that supports the fully differentiation of SH-SY5Y into neuron-like phenotype for the consistency of the results with neurons in vivo. However, a standardized neuronal differentiation protocol for SH-SY5Y cells still does not exist.

Amyloid β,α-Synuclein and Amyloid β-α-Synuclein Combination Exert Significant but Different Alterations in Inflammatory Response Profile in Differentiated Human SH-SY5Y Cells.

Neurodegeneration is a condition in which the neuronal structure and functions are altered with reduced neuronal survival and increased neuronal death in the central nervous system (CNS). Amyloid-β (Aβ) is the pathological hallmark of a common neurodegenerative disorder, Alzheimer disease. Parkinson disease and dementia with Lewy bodies are among α-synucleinopathies characterized by abnormal accumulation of insoluble α-synuclein protein.

Palladium complexes containing NNN pincer type ligands and their activities in Suzuki-Miyaura cross coupling reaction.

Five new NNN pincer-type ligands and their palladium complexes were successfully synthesised and characterised by FT-IR, H NMR, C NMR, and UV-vis analyses. TEM analysis was used to observe the morphological character of the black residues obtained from the fourth cycle of the reusability test. Furthermore, suitable crystals of the ,-(2--butylphenyl)pyridine-2,6-dicarboxamide and its palladium complex were elucidated with the X-ray single crystal diffraction method.

Vitamin D receptor regulates transcription of mitochondrial DNA and directly interacts with mitochondrial DNA and TFAM.

Vitamin D receptor (VDR) is an essential transcription factor (TF) synthesized in different cell types. We hypothesized that VDR might also act as a mitochondrial TF. We conducted the experiments in primary cortical neurons, PC12, HEK293T, SH-SY5Y cell lines, human peripheral blood mononuclear cells (PBMC) and human brain.

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell production. The pathophysiology of these diseases, in particular the rarest, is often poorly understood, and easy-to-apply tools for diagnosis, clinical management, and patient stratification are still lacking. We report the 3-years monocentric experience with a 43 genes targeted Next Generation Sequencing (t-NGS) panel in diagnosis of CHAs; 122 patients from 105 unrelated families were investigated and the results compared with conventional laboratory pathway.

Association of Maternal Vitamin B12 Status With Infant Findings and Neurodevelopment in Vitamin B12-Deficient Breast-fed Babies.

Few studies have examined the association between maternal vitamin B12 status and their breast-fed infants' findings. The objective of this study was to analyze the association of maternal B12 status with infant findings including neurodevelopmental outcome in breast-fed babies with B12 deficiency. Correlation analyses between the laboratory findings of infants with B12 deficiency (n=120) and their mothers were performed and the association of maternal B12 status with infant findings including the Denver-II developmental screening test (DDST II) results was examined.

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the literature up to date.

A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings.

Iron-refractory iron deficiency anemia (IRIDA) is an inherited iron metabolism disorder caused by mutations in TMPRSS6 gene encoding matriptase-2, which results in increased hepcidin synthesis. The hallmarks of the disease are hypochromic microcytic anemia, low transferrin saturation, slightly low or normal ferritin levels in contrast to classic iron deficiency anemia (IDA), inadequate response to oral iron, and only a partial response to parenteral iron. We report here a 6-year-old Syrian boy with unexplained microcytic anemia since one year of age.

Altered Transcriptional Profile of Mitochondrial DNA-Encoded OXPHOS Subunits, Mitochondria Quality Control Genes, and Intracellular ATP Levels in Blood Samples of Patients with Parkinson's Disease.

Mitochondrial dysfunctions are significant contributors to neurodegeneration. One result or a cause of mitochondrial dysfunction might be the disruption of mtDNA transcription. Limited data indicated an altered expression of mtDNA encoded transcripts in Alzheimer's disease (AD) or Parkinson's disease (PD).

Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study.

Objective: This study aims to investigate the distribution, clinical characteristics and outcome of inherited coagulation disorders (ICD) in Turkish children.

Subjects And Methods: Data from all children (age<18 years) with ICD examined in our center were retrospectively reviewed.

Results: There were 403 children with ICD (233 males and 170 females) with a median age of four years at diagnosis.

Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.

Background: Factor XI (FXI) deficiency is an autosomal bleeding disease associated with genetic defects in the F11 gene which cause decreased FXI levels or impaired FXI function. An increasing number of mutations has been reported in the FXI mutation database, most of which affect the serine protease domain of the protein. FXI is a heterogeneous disorder associated with a variable bleeding tendency and a variety of causative F11 gene mutations.

Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations.

Iron-refractory iron deficiency anemia (IRIDA) is a rarely diagnosed autosomal recessive disorder that presents with hypochromic, microcytic anemia due to mutations in TMPRSS6, which encodes matriptase-2. Contrary to classical iron deficiency anemia, serum hepcidin levels are found to be elevated in this disorder. Here, we report 5 cases from 4 unrelated families with inadequate response to iron therapy, who were consequently diagnosed as IRIDA.

Severe vitamin B₁₂ deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia.

A 15-year-old boy on a vegetarian diet presented with severe macrocytic anaemia (haemoglobin, 5.1 g/dL; mean corpuscular volume, 116 fL) in addition to leucopenia and thrombocytopaenia (pancytopenia), icterus secondary to haemolysis and splenomegaly. Laboratory investigations revealed severe vitamin B12 (cobalamin) deficiency.

Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families.

Factor XI (FXI) deficiency is an autosomal bleeding disorder characterized by variable bleeding tendency. In the present study, the gene encoding FXI (F11) was analyzed by direct sequencing in 33 individuals belonging to 11 unrelated Turkish families, and the bleeding tendency was quantitatively assessed by means of a bleeding questionnaire in 27 individuals with low FXI clotting activity and/or mutated F11 gene. We identified 10 distinct mutations (five missense, three nonsense and two splice site), four of which were novel.

Evaluation of Pediatric Bleeding Questionnaire in Turkish Children With Von Willebrand Disease and Platelet Function Disorders.

The diagnosis of mild bleeding disorders is not easy as most of the "healthy" individuals also report bleeding symptoms. In order to get a precise bleeding history, Pediatric Bleeding Questionnaire (PBQ) has been developed. In our study, Turkish children diagnosed with Von Willebrand disease (VWD), platelet function defect (PFD), and healthy children without any symptoms (control group 1) and healthy children with symptoms but found hemostatically normal (control group 2) were analyzed with PBQ.

Matrix type transdermal therapeutic system containing captopril: formulation optimization, in vitro and ex vivo characterization.

Transdermal therapeutic systems (TTS) containing captopril were developed by using synthetic and pH independent polymers, Eudragit RL 100 and RS 100. The formulations were characterized in terms of their appearance, thickness, captopril content, in vitro release rate and diffusion profiles. In vitro release studies demonstrated controlled release for each formulation developed.

ALL-BFM 95 treatment in Turkish children with acute lymphoblastic leukemia--experience of a single center.

Little is known about the likelihood of curing children with high-dose chemotherapy regimens for treatment of childhood acute lymphoblastic leukemia (ALL) in Turkey. The authors here report their 13 years' experience with original ALL-BFM (Berlin-Franfurt-Münster) 95 protocol in a cohort of 140 Turkish children with ALL. Complete remission rate was 97.

Parathyroid adenoma and chondrosarcoma after treatment of pediatric Hodgkin disease.

Treatment of Hodgkin disease (HD) with chemoradiotherapy in children is associated with increased risk for developing secondary neoplasms. Parathyroid adenoma (PTA) and chondrosarcoma (CS) are quite rare types of secondary neoplasms after HD. We describe a 5-year-old boy with stage IV HD, successfully treated with MOPP (mechlorethamine, vincristine, procarbazine, and prednisone)/ABVD (doxorubicin, bleomycin, vinblastine, and dacarbazine) chemotherapy followed by 35 Gy mantle radiotherapy who developed primary hyperparathyroidism because of benign PTA at the age of 20 years, and died of CS in thoracic vertebrae at the age of 22 years.