Lymphocyte apoptosis and its association with the inflammatory markers and disease severity in juvenile-onset systemic lupus erythematosus patients.

BACKGROUND: The defective clearance of apoptotic bodies in juvenile-onset systemic lupus erythematosus (jSLE) potentially leads to the persistence of autoreactive lymphocytes and the perpetuation of the autoimmune response. These factors contribute to the disturbance in lymphocyte apoptosis and show potential as key determinants in the clinical course and severity of jSLE. This study evaluates the role of peripheral blood (PB) lymphocyte apoptosis in prognosis of jSLE and as a predictor for disease activity. METHODS: The study involved 100 jSLE patients and 50 healthy controls. Flow cytometry was used to analyze percentages of lymphocyte apoptosis in PB of all study participants. Plasma levels of pro-inflammatory cytokines were determined using ELISA. RESULTS: Our results showed that percentages of lymphocyte apoptosis in PB of jSLE patients are significantly higher than those of healthy controls. These percentages are significantly positively associated with disease activity of patients (SLEDAI-2 K). Furthermore, plasma cytokine levels (IL-17, IFN-γ and TNF-α) are significantly elevated in jSLE patients compared to their levels in healthy controls. Also, there are weak significant positive correlations between percentages of PB lymphocyte apoptosis and each of IL-17 and IFN-γ plasma levels in jSLE patients. Moreover, PB lymphocyte apoptosis percentages among jSLE patients are higher in the presence of some clinical and laboratory features than those in their absence. CONCLUSION: Peripheral apoptotic lymphocytes could contribute to the prognosis of jSLE and could be used as a predictor for disease activity in jSLE patients.

Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children.

Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is to evaluate the importance of using T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) as molecular markers for immunological investigation of children with DS. The study included 40 non-disjunction trisomy 21 confirmed DS children, and 25 healthy controls. Peripheral blood (PB) was analyzed for lymphocyte subpopulations by flow cytometry, serum immunoglobulin levels, and TREC and KREC copy numbers using quantitative real-time PCR. DS patients showed significantly lower absolute counts of PB T lymphocytes, T helper lymphocytes, T cytotoxic lymphocytes, B lymphocytes, and Natural killer cells, and lower serum IgA, IgG, and IgM levels compared to healthy controls. Copy number of TREC and KREC showed no significant differences between DS patients and healthy controls. There is a significant positive correlation between TREC copy number with a percentage and absolute count of helper T lymphocytes in patients. Also, the KREC copy number was significantly negatively correlated with the age of patients. These findings suggest that copy numbers of TREC and KREC could be useful as molecular markers for immunological evaluation of patients with DS.

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

Progressive pseudorheumatoid dysplasia (PPRD), a rare autosomal recessive syndrome, is a type of skeletal dysplasia associated with pain, stiffness, swelling of multiple joints, and the absence of destructive changes. PPRD occurs due to loss of function pathogenic variants in WISP3 (CCN6) gene, located on chromosome 6q22. In this study, 23 unrelated Egyptian PPRD patients were clinically diagnosed based on medical history, physical and radiological examinations, and laboratory investigations. Sequencing of the whole WISP3 (CCN6) exons and introns boundaries was carried out for all patients. A total of 11 different sequence variations were identified in the WISP3 (CCN6) gene, five of them were new pathogenic variants: the NM_003880.3: c.80T>A (p.L27*), c.161delG (p.C54fs*12), c.737T>C (p.Leu246Pro), c.347-1G>A (IVS3-1G>A), and c.376C>T (p.Q126*). The results of this study expand the spectrum of WISP3 (CCN6) pathogenic variants associated with PPRD. Clinical and genetic analysis is important for proper genetic counseling to curb this rare disorder in the families.

Osteogenic enhancement of modular ceramic nanocomposites impregnated with human dental pulp stem cells: an approach for bone repair and regenerative medicine.

BACKGROUND/AIM: Human dental pulp-derived mesenchymal stem cells (hDP-MSCs) are a promising source of progenitor cells for bone tissue engineering. Nanocomposites made of calcium phosphate especially hydroxyapatite (HA) offer an impressive solution for orthopedic and dental implants. The combination of hDP-MSCs and ceramic nanocomposites has a promising therapeutic potential in regenerative medicine. Despite the calcium phosphate hydroxyapatite (HA)-based nanocomposites offer a good solution for orthopedic and dental implants, the heavy load-bearing clinical applications require higher mechanical strength, which is not of the HA' properties that have low mechanical strength. Herein, the outcomes of using fabricated ceramic nanocomposites of hydroxyapatite/titania/calcium silicate mixed at different ratios (C1, C2, and C3) and impregnated with hDP-MSCs both in in vitro cultures and rabbit model of induced tibial bone defect were investigated. Our aim is to find out a new approach that would largely enhance the osteogenic differentiation of hDP-MSCs and has a therapeutic potential in bone regeneration. SUBJECTS AND METHODS: Human DP-MSCs were isolated from the dental pulp of the third molar and cultured in vitro. Alizarin Red staining was performed at different time points to assess the osteogenic differentiation. Flow cytometer was used to quantify the expression of hDP-MSCs unique surface markers. Rabbits were used as animal models to evaluate the therapeutic potential of osteogenically differentiated hDP-MSCs impregnated with ceramic nanocomposites of hydroxyapatite/tatiana/calcium silicate (C1, C2, and C3). Histopathological examination and scanning electron microscopy (SEM) were performed to evaluate bone healing potential in the rabbit induced tibial defects three weeks post-transplantation. RESULTS: The hDP-MSCs showed high proliferative and osteogenic potential in vitro culture. Their osteogenic differentiation was accelerated by the ceramic nanocomposites' scaffold and revealed bone defect's healing in transplanted rabbit groups compared to control groups. Histopathological and SEM analysis of the transplanted hDP-MSCs/ceramic nanocomposites showed the formation of new bone filling in the defect area 3 weeks post-implantation. Accelerate osseointegration and enhancement of the bone-bonding ability of the prepared nanocomposites were also confirmed by SEM. CONCLUSIONS: The results strongly suggested that ceramic nanocomposites of hydroxyapatite/ titania /calcium silicate (C1, C2, and C3) associated with hDP-MSCs have a therapeutic potential in bone healing in a rabbit model. Hence, the combined osteogenic system presented here is recommended for application in bone tissue engineering and regenerative medicine.

Prevalence of viral pathogens in a sample of hospitalized Egyptian children with acute lower respiratory tract infections: a two-year prospective study.

Background: Viral pneumonias are a major cause of childhood mortality. Proper management needs early and accurate diagnosis. This study objective is to investigate the viral etiologies of pneumonia in children. Results: This prospective study enrolled 158 and 101 patients in the first and second year, respectively, and their mean age was 4.72 ± 2.89. Nasopharyngeal swabs were collected and subjected to virus diagnosis by reverse transcription polymerase chain reaction (RT-PCR). Viral etiologies of pneumonia were evidenced in 59.5% of the samples in the first year, all of them were affirmative for influenza A, 2 samples were affirmative for Human coronavirus NL63, and one for Human coronavirus HKU1. In the second year, 87% of patients had a viral illness. The most prevalent agents are human metapneumovirus which was detected in 44 patients (43.6%) followed by human rhinovirus in 35 patients (34.7%) and then parainfluenza-3 viruses in 33 patients (32.7%), while 14 patients had a confirmed diagnosis for both Pan coronavirus and Flu-B virus. Conclusions: Viral infection is prevalent in the childhood period; however, the real magnitude of viral pneumonia in children is underestimated. The reverse transcriptase polymerase chain reaction has to be a vital tool for epidemiological research and is able to clear the gaps in-between clinical pictures and final diagnoses.

Dysregulation of complement factor H in juvenile-onset systemic lupus erythematosus patients.

Objectives: This study aims to evaluate the expression pattern of factor H in peripheral blood and the frequency of factor H autoantibodies in plasma of juvenile-onset systemic lupus erythematosus (jSLE) patients compared to healthy controls. Patients and methods: Between March 2019 and October 2019, a total of 30 healthy individuals (3 males, 27 females; mean age: 26±7.4 years; range, 18 to 40 years) and 65 jSLE patients (age of onset ≤16 years) (2 males, 63 females; mean age: 23.4±7 years; range, 15 to 38 years) were included. Factor H expression pattern was examined in blood of all subjects using quantitative real-time polymerase chain reaction and the frequency of factor H autoantibodies was estimated in plasma using enzyme-linked immunosorbent assay. Results: Factor H expression was significantly downregulated in jSLE patients compared to healthy controls (p<0.01). A significant underexpression of factor H was observed in jSLE patients with nephritis compared to those without nephritis (p<0.03), while there was no association of factor H expression levels with any of the other clinical and serological features, disease activity or disease damage index of patients. Only 5% of jSLE patients were positive for factor H autoantibodies without any correlations with the clinical data or disease activity of patients. Conclusion: Our study results suggest that factor H expression can be dysregulated in jSLE patients.

Telomerase Dysfunction in the Tumorigenesis of Genetic Disorders.

Telomeres are nucleoprotein complexes present at the ends of chromosome to maintain its integrity. Telomere length is maintained by an enzyme called "telomerase". Thus, telomerase activity and telomere length are crucial for the initiation of cancer and tumors survival. Also, oxidative stress will cause DNA, protein, and/or lipid damage, which end with changes in chromosome instability, genetic mutation, and may affect cell growth and lead to cancer. Some genetic diseases such as chromosomal instability syndrome, overgrowth syndrome, and neurofibromatosis make the patients at higher risk for developing different types of cancers. Therefore, we aimed to estimate telomerase activity and oxidative stress in these patients. Blood samples were collected from 31 patients (10 with neurofibromatosis, 11 with chromosomal breakage, and 10 with overgrowth syndrome) and 12 healthy subjects. Blood hTERT mRNA was detected by real time quantitative reverse-transcription PCR (RT-qPCR). All patients were subjected to chromosomal examination and chromosome breakage study using diepoxybutane method. Moreover, serum glutathione (GSH), glutathione-s-transferase (GST) activity and nitric oxide (NO) levels were measured among the control and patients groups. Receiver operating characteristic (ROC) curve was drawn to evaluate the efficiency of telomerase activity as a biomarker for the prediction of cancer occurrence. The relative telomerase activity in neurofibromatosis patients was significantly higher than controls (P = 0.014), while it was non-significantly higher in chromosomal breakage and overgrowth patients (P = 0.424 and 0.129, respectively). NO levels in neurofibromatosis, chromosomal breakage and overgrowth patients significantly increased with respect to control (P = 0.021, 0.002, 0.050, respectively). GSH levels were non-significantly lower in neurofibromatosis and chromosomal breakage patients in comparison with the control group, while it remained unchanged in overgrowth patients. The GST activity was significantly upregulated in neurofibromatosis, chromosomal breakage and overgrowth groups in comparison with the control group (P = 0.001, 0.009, and 0.025, respectively). Chromosomal examination revealed normal karyotype in all four chromosomal breakage patients with positive diepoxybutane test. The results of the present study revealed altered telomerase activity and oxidative stress in the studied genetic disorders. More research studies with a larger number of patients are required to confirm whether this alteration is related to cancer occurrence risk or not.

Association of microRNA-125a with the clinical features, disease activity and inflammatory cytokines of juvenile-onset lupus patients.

BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with marked variation in its clinical presentation. Juvenile-onset SLE (jSLE) exhibits an aggressive clinical phenotype and severe complications. Dysregulated expression of microRNAs (miRs) in immune cells from patients with SLE has been found. We aim to evaluate the association of miR-125a with the clinical and laboratory characteristics, disease activity and inflammatory cytokines of jSLE patients. METHODS: 60 jSLE patients and 25 normal controls were involved in the study. The expression pattern of miR-125a was determined in plasma of all subjects using qRT-PCR. In addition, plasma levels of IL-17 and IFN-γ were examined using ELISA. The correlation of miR-125a expression with the clinical manifestations and disease activity of jSLE patients was analyzed. Also, its association with the inflammatory cytokines was investigated in jSLE patients. RESULTS: Our findings showed that miR-125a expression levels were significantly reduced in jSLE patients compared to normal controls (p < 0.01) and these expression levels differed based on the clinical variability of patients. In addition, plasma levels of IL-17 and IFN-γ in jSLE patients were significantly higher than healthy controls (p < 0.01). Finally, miR-125a expression had significant negative associations with each of SLEDAI-2K (p < 0.01), SLICC (p < 0.01), ESR (p < 0.05), proteinuria (p < 0.01) and IL-17 levels (p < 0.01) in jSLE patients. CONCLUSION: Our findings postulate that miR-125a could act as a candidate therapeutic target for its possible regulation of inflammation in jSLE patients.

MicroRNAs as Immune Regulators of Inflammation in Children with Epilepsy.

Epilepsy is a chronic clinical syndrome of brain function which is caused by abnormal discharge of neurons. MicroRNAs (miRNAs) are small non-coding RNAs which act post-transcriptionally to regulate negatively protein levels. They affect neuroinflammatory signaling, glial and neuronal structure and function, neurogenesis, cell death, and other processes linked to epileptogenesis. The aim of this study was to explore the possible role of miR-125a and miR-181a as regulators of inflammation in epilepsy through investigating their involvement in the pathogenesis of epilepsy, and their correlation with the levels of inflammatory cytokines. Thirthy pediatric patients with epilepsy and 20 healthy controls matched for age and sex were involved in the study. MiR-181a and miR-125a expression were evaluated in plasma of all subjects using qRT-PCR. In addition, plasma levels of inflammatory cytokines (IFN-γ and TNF-) were determined using ELISA. Our findings indicated significantly lower expression levels of miR-125a (P=0.001) and miR-181a (P=0.001) in epileptic patients in comparison with controls. In addition, the production of IFN-γ and TNF- was non-significantly higher in patients with epilepsy in comparison with the control group. Furthermore, there were no correlations between miR-125a and miR-181a with the inflammatory cytokines (IFN-γ and TNF-) in epileptic patients. MiR-125a and miR-181a could be involved in the pathogenesis of epilepsy and could serve as diagnostic biomarkers for pediatric patients with epilepsy.

Aberrant Expression of Immune-related MicroRNAs in Pediatric Patients with Asthma.

MicroRNAs (miRNAs) have been implicated as regulatory molecules that could play a considerable role in the pathogenesis of different diseases including asthma. This work aims at exploring the role of miR-146a and miR- 106b in the pathogenesis of asthma and their association with asthma severity, IgE, and inflammatory cytokines in asthmatic children. Thirty asthmatic children and twenty age-matched healthy children aged 4-17 years old were enrolled. Expression of plasma miR-146a and miR-106b was measured using quantitative real-time PCR. Plasma levels of interleukin-5 (IL-5) and interleukin-13 (IL-13) were assessed using ELISA. Lung functions were measured by Spirometry. MiR-146a and miR-106b were significantly over-expressed in asthmatic children compared to healthy children. A significant positive correlation between total IgE and both miR-146a and miR-106b was found while no significant correlation could be detected between these miRNAs and asthma severity in asthmatic children. Plasma levels of IL-5 and IL-13 were non-significantly higher in asthmatic children compared to healthy children, and there was no significant correlation between them and both miR-146a and miR-106b expressions in the asthmatic children. The aberrant expression of immune-related miRNAs (miR-146a and miR-106b) and inflammatory cytokines (IL-5 and IL-13) among asthmatic children suggest their probable role in asthma pathogenesis.

Combination of Human Amniotic Fluid Derived-Mesenchymal Stem Cells and Nano-hydroxyapatite Scaffold Enhances Bone Regeneration.

BACKGROUND: Human amniotic fluid-derived stem cells (hAF-MSCs) have a high proliferative capacity and osteogenic differentiation potential in vitro. The combination of hAF-MSCs with three-dimensional (3D) scaffold has a promising therapeutic potential in bone tissue engineering and regenerative medicine. Selection of an appropriate scaffold material has a crucial role in a cell supporting and osteoinductivity to induce new bone formation in vivo. AIM: This study aimed to investigate and evaluate the osteogenic potential of the 2nd-trimester hAF-MSCs in combination with the 3D scaffold, 30% Nano-hydroxyapatite chitosan, as a therapeutic application for bone healing in the induced tibia defect in the rabbit. SUBJECT AND METHODS: hAF-MSCs proliferation and culture expansion was done in vitro, and osteogenic differentiation characterisation was performed by Alizarin Red staining after 14 & 28 days. Expression of the surface markers of hAF-MSCs was assessed using Flow Cytometer with the following fluorescein-labelled antibodies: CD34-PE, CD73-APC, CD90-FITC, and HLA-DR-FITC. Ten rabbits were used as an animal model with an induced defect in the tibia to evaluate the therapeutic potential of osteogenic differentiation of hAF-MSCs seeded on 3D scaffold, 30% Nano-hydroxyapatite chitosan. The osteogenic differentiated hAF-MSCs/scaffold composite system applied and fitted in the defect region and non-seeded scaffold was used as control. The histopathological investigation was performed at 2, 3, & 4 weeks post-transplantation and scanning electron microscope (SEM) was assessed at 2 & 4 weeks post-transplantation to evaluate the bone healing potential in the rabbit tibia defect. RESULTS: Culture and expansion of 2nd-trimester hAF-MSCs presented high proliferative and osteogenic potential in vitro. Histopathological examination for the transplanted hAF-MSCs seeded on the 3D scaffold, 30% Nano-hydroxyapatite chitosan, demonstrated new bone formation in the defect site at 2 & 3 weeks post-transplantation as compared to the control (non-seeded scaffold). Interestingly, the scaffold accelerated the osteogenic differentiation of AF-MSCs and showed complete bone healing of the defect site as compared to the control (non-seeded scaffold) at 4 weeks post-transplantation. Furthermore, the SEM analysis confirmed these findings. CONCLUSION: The combination of the 2nd-trimester hAF-MSCs and 3D scaffold, 30% Nano-hydroxyapatite chitosan, have a therapeutic perspective for large bone defect and could be used effectively in bone tissue engineering and regenerative medicine.

MicroRNAs as Potential Biomarkers for Childhood Epilepsy.

BACKGROUND: Epilepsy is the most frequent chronic neurologic condition in childhood. Its clinical diagnosis is based on electroencephalograms (EEG) and neuroimaging techniques. MicroRNAs (miRNAs) modulate gene expression of several genes and are aberrantly expressed in several diseases. AIM: Evaluation of using circulating miR-106b and miR-146a as diagnostic and prognostic biomarkers in children patients with epilepsy. METHODS: Thirty epileptic children and twenty controls were enrolled in our study. They were assessed for the expression pattern of miR-106b and miR-146a in plasma using quantitative real-time PCR and determination of plasma Immunoglobulin levels. RESULTS: MiR-146a and miR-106b expression patterns were significantly up-regulated in children patients than that in normal controls. Plasma Immunoglobulins were differentially expressed in epileptic patients in comparison with healthy controls. No correlations were found between expression levels of miRNAs (miR-146a and miR-106b) and clinical data or immunoglobulin levels in children patients with epilepsy. CONCLUSION: Our findings suggest that up-regulated plasma miR-106b and miR-146a could be used as biomarkers for epilepsy evaluation.

Immunological Evaluation in Patients with Familial Mediterranean fever.

OBJECTIVE: This study aimed to investigate T & B lymphocyte subsets and Natural Killer (NK) cells patterns in children with FMF versus normal control subjects, to estimate the immunoglobulins IgG, IgM, and IgA levels, and to scrutinize the possible use of Neutrophil / Lymphocyte ratio (NLR) as a marker for subclinical inflammation in FMF patients. PATIENTS AND METHODS: A group of 42 patients with FMF attending the Genetics Clinic at National Research Centre were included in this study. They were 13 males and 19 females; their age ranged from 2 to 17 years old. Normal healthy subjects within the same age and sex range were included as a control group. Complete blood picture was done for all cases, and neutrophil/ lymphocyte ratio was calculated. Flow cytometer analysis was done for CD3, CD4, CD8, CD19 and CD16 using monoclonal antibodies. Immunoglobulins IgG, IgA and IgM were estimated in serum using nephelometry. RESULTS: Positive consanguinity was present in 20 patients (47.6%). Abdominal pain was the most common manifestation followed by fever, arthritis, and red rash. CD3, CD4 and CD8 were statistically increased in patients group as compared to normal control group, while CD16 was statistically decreased. CONCLUSION: The study suggests that quantitative measurement of CD expressions of CD3, CD4 and CD8 as well as NLR might be used as valuable markers for subclinical inflammation in FMF.

ABO blood grouping in Egyptian children with rotavirus gastroenteritis.

INTRODUCTION: Rotavirus gastroenteritis is an important public health problem all over the world, causing a notable economic burden in both developing and developed countries. AIM: To explore the relationship between blood group typing, rotavirus gastroenteritis, and its severity in Egyptian children. MATERIAL AND METHODS: A cross sectional case control study was conducted on 231 cases of acute gastroenteritis attending the outpatient clinic of Al-Zahraa University Hospital. Full history taking, clinical examination, and clinical data collection were done. Blood samples were collected for an ABO grouping. Stool samples were tested for viral gastroenteritis agents. RESULTS: Rota positive cases of GE were significantly more prevalent among cases with blood group A (p < 0.05) and significantly less among cases with blood group B (p < 0.05). The rate of hospitalisation was highly significantly greater among cases with group A (p < 0.005), and significantly lower among cases with group AB and O (p < 0.05). As regards the degree of dehydration, moderate and severe cases were highly significant in groups A and O (p < 0.005). Rota-positive gastroenteritis showed significant positive correlations with indicators of severity such as hospitalisation, degree of dehydration, and duration of fever (p < 0.005). CONCLUSIONS: Blood group A is highly associated with paediatric rotavirus gastroenteritis. This could highlight an important risk factor, which could play a significant role for the pathogenesis of rotavirus gastroenteritis and severity as well. Furthermore, more intervention care could be needed for blood group A paediatric patients, if gastroenteritis especially rotavirus affect this group to avoid comorbidities.

The relation between glutathione S-Transferase M1 null-genotype and cardiac problems in beta-thalassemia.

UNLABELLED: This work was carried out to investigate the role of Glutathione S-Transferase M1 (GSTM1) null genotype frequency in prognosis of ß-thalassemia, and to detect the correlation between GSTM1 null genotype and appearance of cardiac complications in ß-thalassemia. MATERIALS AND METHODS: The studied groups in the present work were divided to three groups (group I: 20 healthy subjects, group II: 56 ß-thalassemic patients and group III: 16 ß-thalassemic patients with cardiac complications were taken from group II). The measurement of human high sensitive C-reactive protein (hs-CRP) was performed using nephelometry. GSTM1 genotype was detected by Polymerase Chain Reaction (PCR) and cardiac complications were determined by using Echocardiography. RESULTS: A statistically significant increase in hs-CRP and interleukin-6 (IL-6) levels was found in ß-thalassemic patients with cardiac complications compared to normal subjects. Results showed no relation between GSTM1 null genotype frequency neither with ß-thalassemia nor with cardiac complications appearance, where the interaction between GSTM1 null genotype in ß-thalassemic patients with cardiac complications and healthy subjects were insignificant compared to subjects with GSTM1 non-null genotype. CONCLUSIONS: GSTM1 null genotype frequency has no role in ß-thalassemia or cardiac complications appearance.

Evaluation of Bax and Bak gene mutations and expression in breast cancer.

Genetic analyses have provided evidence to suggest that Bax and Bak are the essential genes for apoptosis in mammalians cells. This study aimed to search for biomarkers in breast cancer to be used as prognostic markers for the disease. The Bak and Bax genes expressions were analyzed in 23 breast cancer patients by RT-PCR technique. SSCP technique was used to detect the mobility of the abnormal fragment in Bak exon 4. PCR for Bax promoter was digested with Tau 1 restriction enzyme to identify a single polymorphism G(-248)A. The expression of Bak gene is related to several clinical factors of breast cancer. The analysis of Bax RNA showed 4 isoforms of Bax with different distributions in the normal and tumor tissues. These isoforms were Bax α , d, δ , and ζ . Exon 4 had a normal pattern in all cases of breast cancer. There was a statistically significant difference in the frequency distribution of the G(-248)A genotypes in the breast cancer tissues with grade 3+high, T2 stage, lobular +other, and PR -ve subgroups. In this study, Bak expression seems to lead to development of breast cancer and affects the disease progression. Also, Bax d and Bax δ could be used as risk factor and biomarker for breast cancer with the distribution of G284A.

TRAIL mRNA expression in peripheral blood mononuclear cells of Egyptian SLE patients.

Although the definite etiopathogenesis of systemic lupus erythematosus (SLE) remains unclear, many different mechanisms may contribute to its pathogenesis. Tumor-necrosis factor-related apoptosis-inducing ligand (TRAIL) is a member of the tumor necrosis factor (TNF) family with pro-apoptotic activity. The accumulation of apoptotic cell debris has been hypothesized to induce the autoimmune inflammation in SLE, and TRAIL may trigger this programmed cell death. We investigated TRAIL mRNA expression levels in peripheral blood mononuclear cells (PBMCs) from 60 SLE patients and 40 controls using quantitative real-time reverse transcription-polymerase chain reaction (RT-PCR), and we studied the association between the results and clinical and laboratory parameters of the patients. Expression levels of TRAIL mRNAs in SLE patients were significantly higher than in controls (p<0.001). A statistically significant association was detected between TRAIL mRNA expression and SLE activity (p=0.001).

Ectodermal abnormalities in patients with Kabuki syndrome.

Kabuki syndrome (KS) is extensively described in the literature and characterized by a typical facial gestalt in combination with postnatal short stature, hypotonia, joint laxity, developmental delay, persistent fetal fingertip pads, and an ever-growing group of congenital abnormalities. In this study, we focus on some ectodermal manifestations that we have observed. We studied seven patients who fulfilled the clinical criteria for KS and undertook a detailed clinical, dental, cytogenetic, and immunoglobulin assessments. In addition, microscopic hair examinations were performed on all patients and compared with matched control patients. All patients had receding of the anterior hair line, but five had evident sparse frontal scalp hair. They all showed peculiar similar microscopic hair abnormalities in the form of twisting of the hair shafts, irregularity of the diameter of the hair, and trichorrhexis nodosa. In addition, hypoplastic nails, café-au-lait patches, and missing upper lateral incisors were observed in 57.1%, 28.6%, and 14.3% of the patients, respectively. Variable orodental anomalies were seen in all the patients with an everted lower lip found in four patients (57.1%). This report provides further evidence that some cases of KS have ectodermal involvement.

Monitoring treatment response of childhood acute lymphocytic leukemia with certain molecular and biochemical markers.

Apoptosis is the primary mechanism through which most chemotherapeutic agents induce tumor cell death. The purpose of this study was to monitor the expression of pro- and anti-apoptotic proteins CD(95) , Bcl-2, as well as copper and zinc levels in the peripheral blood of children with acute lymphocytic leukemia (ALL) prior to and 6 months after the beginning of chemotherapy. Blood parameters and bone marrow blast count were also assessed. Twenty of 26 patients who received treatment showed amelioration in apoptotic response, which is reflected in the elevation of CD(95) , whereas Bcl-2 protein was significantly lowered. In these patients, the elevated serum copper level was not significantly affected whereas the low serum zinc level was significantly raised. Improvement in blood parameters and bone marrow blast count were also achieved. Taken together, the data suggested that assessment of apoptosis signaling molecules might have a predictive impact on treatment outcome.