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1.
Ital J Pediatr ; 50(1): 72, 2024 Apr 18.
Article in English | MEDLINE | ID: mdl-38632644

ABSTRACT

BACKGROUND: Autoimmune hepatitis (AIH) is an organ specific autoimmune disease, which can manifest at any age of life. there is a high prevalence of extrahepatic autoimmune diseases in patients with AIH. Autoimmune thyroid diseases (ATDs) are the most frequent extrahepatic autoimmune disorders among patients with AIH. Aim of work is to detect the frequency of ATDs among Egyptian children with AIH. METHODS: This research is a cross-sectional study conducted on 58 children with AIH aged ≤ 18 years. All patients were tested for free triiodothyronine (FT3), free tetraiodothyronine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (anti-TPO) and antithyroglobulin (anti-TG). Thyroid ultrasound (US) and thyroid scan were performed for patients with abnormal thyroid profile, borderline values, positive anti-TPO or anti-TG. RESULTS: The mean ± standard deviation (SD) for the age of the patients was 11.3 ± 4.5 years. Out of 58 patients of AIH, 28 patients (48.3%) had associated other autoimmune diseases. Autoimmune thyroiditis was the most common associated autoimmune disease being present in 10 patients (17.2%). The thyroid status of AIT patients showed that 6 patients (60%) were euthyroid, 3 patients (30%) had subclinical hypothyroidism and only one patient (10%) was hyperthyroid. CONCLUSION: Autoimmune hepatitis in Egyptian children is commonly associated with other autoimmune diseases. Autoimmune thyroiditis is the most common to be associated with AIH in pediatric patients. As it is not usually clinically manifesting, regular screening for AIT in children with AIH is mandatory.


Subject(s)
Hashimoto Disease , Hepatitis, Autoimmune , Thyroiditis, Autoimmune , Humans , Child , Hepatitis, Autoimmune/complications , Prevalence , Cross-Sectional Studies , Thyroiditis, Autoimmune/complications , Thyroiditis, Autoimmune/diagnosis , Thyroiditis, Autoimmune/epidemiology , Hashimoto Disease/complications , Autoantibodies , Thyrotropin
2.
Egypt J Immunol ; 30(3): 171-179, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37440666

ABSTRACT

Rheumatoid arthritis (RA) is a chronic auto-inflammatory disease of connective tissue with progressive joint damage and systemic disorders. RA is considered a multifactorial disease triggered by a genetic predisposition and environmental factors. Polymorphisms have been identified in the Xq28 locus as risk loci for RA. The aim of study was to assess the association between two polymorphisms in the Xq28 region containing Transmembrane Protein 187 (TMEM187) gene (rs13397) and interleukin1 receptor associated kinase (IRAK1) gene (rs1059703) with the disease susceptibility and activity in Egyptian RA patients. This study was conducted on 100 RA patients and 100 age and sex matched normal controls, together were recruited from the Rheumatology Department, Beni-Suef University Hospital. We detected TMEM187 (rs13397) and IRAK1 (rs1059703) gene polymorphisms using the real time PCR TaqMan allelic discrimination assays. We found that the frequency of the major genotypes (GG) of TMEM 187 gene was higher in RA group (54%) compared to controls (50%); while the minor genotypes (AA) was higher in the control group (22%) compared to the diseased one (18%), but such differences did not reach statistical significance (p=0.599). Regarding the IRAK1 gene, we revealed that the frequency of the major genotypes (AA) of the rs1059703 was slightly higher in RA group (48%) compared to controls (46%); while the minor genotypes (GG) was the same in both groups (26%). However, there was higher incidence of minor genotype in the TMEM187 and IRAK1 genes in males; with a statistical significance (p=0.004 and 0.015, respectively). We concluded that the major allele G of TMEM187(rs 13397) could be considered as a risk genetic allele for RA in Egyptian populations.


Subject(s)
Arthritis, Rheumatoid , Interleukin-1 Receptor-Associated Kinases , Male , Humans , Interleukin-1 Receptor-Associated Kinases/genetics , Egypt , Polymorphism, Single Nucleotide , Arthritis, Rheumatoid/genetics , Arthritis, Rheumatoid/epidemiology , Genetic Predisposition to Disease/genetics , Genotype , Gene Frequency , Case-Control Studies , Membrane Proteins/genetics
3.
Ultrasound Med Biol ; 47(8): 2157-2166, 2021 08.
Article in English | MEDLINE | ID: mdl-33934941

ABSTRACT

This study was aimed at validating the diagnostic accuracy of ultrasound (US) scans in pre-operative evaluation of flexor tendon injuries in the hand and to determine its value in the management of such injuries and in the prediction of patient outcome. This descriptive cross-sectional prospective study included 35 patients with penetrating trauma to the volar aspect of the hand or wrist with questionable clinical findings. They had 50 injured tendons and were candidates for exploratory surgery versus physiotherapy. They underwent pre-operative US to guide their management. Ultrasound results were compared with the operative findings as the gold standard test. Patients were followed up postoperatively, and functional outcome was assessed and correlated with pre-operative sonographic findings. Our results indicate that sonographic examination of hand tendon injury has high accuracy in diagnosing complete or partial flexor injuries, with 100% accuracy, sensitivity and specificity in diagnosing full-thickness tears as well as tenosynovitis of hand flexor tendons. Zonal II injury was the most frequent among our study population and correlated with poorest functional outcome after rehabilitation at 3 mo follow-up. US of the hand is a fast, inexpensive and potentially indispensable dynamic tool for accurate assessment of flexor tendon injuries. It provides data on the extent of injury that effectively helps both set up an appropriate operative plan and predict the patient's functional outcome post-operatively, which in turn will have a direct impact on the patient's rehabilitation plan and lifestyle. Thus, it should be a fundamental part of the management of patients with tendon injuries.


Subject(s)
Hand Injuries/diagnostic imaging , Tendon Injuries/diagnostic imaging , Wounds, Penetrating/diagnostic imaging , Wrist Injuries/diagnostic imaging , Adolescent , Adult , Cross-Sectional Studies , Female , Hand Injuries/surgery , Humans , Male , Middle Aged , Prospective Studies , Tendon Injuries/surgery , Ultrasonography , Wounds, Penetrating/surgery , Wrist Injuries/surgery , Young Adult
4.
Br J Radiol ; 94(1118): 20200881, 2021 Feb 01.
Article in English | MEDLINE | ID: mdl-33252986

ABSTRACT

OBJECTIVE: Diagnosis of female pelvic congestion syndrome (PCS) is challenging. Although invasive venography is the gold-standard for diagnosis, however, CT and MRI are important in the assessment. In this study, we tried to highlight the role of CT and MRI as non-invasive tools in the diagnosis and management of PCS. METHODS AND MATERIAL: This was a retrospective study of 50 patients confirmed clinically to have PCS. These patients had already done CT and MRI before venography or surgery. RESULTS: The mean age of the patients was 48 years ± 12 years SD. Vaginal discharge and pelvic heaviness were the commonest symptoms (46 and 42% respectively). The commonest risk factor was multiparity (56%) followed by the RVF uterus (26%). No significant difference was found between CT, MRI, and venography as regarding the diameter of the ovarian vein, diameter, and the number of the varicose veins. The sensitivity of CT and MRI was 94.8 and 96%. CT and MRI discovered five cases with local pelvic obstructing cause,14 cases with evidence of vascular compression syndrome, and the rest 31 cases diagnosed to have primary non-obstructing PCS which was effective in decision-making with the surgery indicated in the first group while stenting of the vascular obstruction followed by bilateral ovarian veins coiling was the better option for the second group and only bilateral coiling was needed for the last group. CONCLUSION: CT and MRI play important roles in the diagnosis and even management decision in cases of PCS. ADVANCES IN KNOWLEDGE:: Identification of the importance of diagnostic radiology before management decisions of cases with PCS.


Subject(s)
Magnetic Resonance Imaging/methods , Ovary/blood supply , Pelvic Pain/etiology , Tomography, X-Ray Computed/methods , Varicose Veins/complications , Varicose Veins/diagnostic imaging , Adult , Chronic Pain/etiology , Female , Humans , Middle Aged , Ovary/diagnostic imaging , Reproducibility of Results , Retrospective Studies , Sensitivity and Specificity , Syndrome
5.
Clin Rheumatol ; 40(2): 753-762, 2021 Feb.
Article in English | MEDLINE | ID: mdl-32661806

ABSTRACT

OBJECTIVES: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease. Cyclophosphamide (CYC) is a cytotoxic drug of a narrow therapeutic window that is commonly used in lupus nephritis (LN) treatment. However, 30-40% of patients experience CYC resistance. CYC inactivation is mediated by the glutathione S transferases (GSTs) superfamily: GST class A (GSTA) has the greatest activity and contains 5 isoenzymes. Polymorphisms of genes involved in the drug metabolism could alter the drug pharmacokinetics and effectiveness. CYC pharmacokinetics and pharmacogenomics are extensively studied in malignancies; however, scarce data are available about this issue in the autoimmune rheumatic diseases. Prediction of the drug response helps the achievement of the highest benefit-to-risk ratio. The aim of this case-control study was to address the association between GSTA1 polymorphism (-69C > T, rs3957356), and the rate of response to and side effects of intravenous CYC in LN patients. METHODS: Ninety-four patients were included and divided into matched groups: resistant and responsive. Genotyping was performed using restriction fragment length polymorphism method after amplification. RESULTS: A significant association between the TT genotype, and CYC resistance and partial response was observed. Concerning the recessive model, none of the patients within the TT group achieved complete remission. CYC side effects were more common with the polymorphism under the genotype, recessive model, and allele distributions. When patients' pre- and post-treatment characteristics were compared, patients with the TT genotype did not show any significant improvement. CONCLUSION: LN patients with GSTA1 (-69C > T, rs3957356) TT genotype have the highest risk of CYC unresponsiveness and toxicity. Key-Points • LN patients with the wild genotype of GSTA1 have the greatest probability of achieving a complete renal response to IV CYC. • The homozygous GSTA1 (-69C > T, rs3957356) TT genotype is associated with the highest risk of LN unresponsiveness to IV CYC. • The homozygous GSTA1 (-69C > T, rs3957356) TT genotype is associated with the highest risk of CYC-related side effects.


Subject(s)
Lupus Nephritis , Case-Control Studies , Cyclophosphamide/adverse effects , Egypt , Glutathione Transferase/genetics , Humans , Immunosuppressive Agents/adverse effects , Lupus Nephritis/drug therapy , Lupus Nephritis/genetics , Polymorphism, Genetic
6.
Egypt J Immunol ; 27(1): 1-8, 2020 Jan.
Article in English | MEDLINE | ID: mdl-33180382

ABSTRACT

Asthma is the most common chronic illness in children and is a leading cause of childhood hospitalization and school absenteeism. Asthma presents with different phenotypes depending on age, gender, genetic background, environmental exposures and epigenetic factors. Forkhead box O3 (FOXO3) is a transcription factor involved in the pathogenesis of a number of inflammatory and respiratory diseases. The study aims to investigate the association between the SNP rs13217795 in FOXO3 gene and pediatric onset asthma in the Egyptian population. Ninety asthmatics and 160 healthy controls were subjected to genotyping of FOXO3 SNP (rs13217795) using the PCR-RFLP method. The proportion of homozygous (CC) and heterozygous (CT) genotypes was lower in the asthmatic group compared to the control group but statistically insignificant; P > 0.05. On the other hand the proportion of the mutant homozygous (TT) genotype in asthmatic group was higher; 30 (33.3%) than the control group; 28(17.5%), the difference was significant in Recessive model of disease penetrance with Odds ratio OR (95% CI) of 2.4(1 - 5.49) and P=0.039. This association was more pronounced in male gender; OR and 95% CI of 5.3 (1.4- 19.3) and P=0.01. In conclusions, Egyptian children carrying the mutant (TT) genotype were at higher risk to develop asthma with a higher risk in male gender.


Subject(s)
Asthma , Forkhead Box Protein O3/genetics , Genetic Predisposition to Disease , Asthma/epidemiology , Asthma/genetics , Case-Control Studies , Child , Egypt/epidemiology , Female , Genotype , Humans , Male , Polymorphism, Single Nucleotide
7.
Front Immunol ; 11: 1446, 2020.
Article in English | MEDLINE | ID: mdl-32612617

ABSTRACT

COVID-19 is a rapidly spreading global threat that has been declared as a pandemic by the WHO. COVID-19 is transmitted via droplets or direct contact and infects the respiratory tract resulting in pneumonia in most of the cases and acute respiratory distress syndrome (ARDS) in about 15 % of the cases. Mortality in COVID-19 patients has been linked to the presence of the so-called "cytokine storm" induced by the virus. Excessive production of proinflammatory cytokines leads to ARDS aggravation and widespread tissue damage resulting in multi-organ failure and death. Targeting cytokines during the management of COVID-19 patients could improve survival rates and reduce mortality.


Subject(s)
Coronavirus Infections/drug therapy , Coronavirus Infections/pathology , Cytokine Release Syndrome/drug therapy , Cytokine Release Syndrome/pathology , Pneumonia, Viral/drug therapy , Pneumonia, Viral/pathology , Respiratory Distress Syndrome/prevention & control , Antibodies, Monoclonal, Humanized/therapeutic use , Betacoronavirus/immunology , COVID-19 , Coronavirus Infections/immunology , Cytokine Release Syndrome/immunology , Cytokines/blood , Humans , Interleukin-6/antagonists & inhibitors , Pandemics , Pneumonia, Viral/immunology , Receptors, Interleukin-6/antagonists & inhibitors , Respiratory Distress Syndrome/drug therapy , Respiratory Distress Syndrome/pathology , SARS-CoV-2 , COVID-19 Drug Treatment
8.
Egypt J Immunol ; 24(1): 57-66, 2017 Jan.
Article in English | MEDLINE | ID: mdl-29120578

ABSTRACT

The cannabinoid system is involved in the immune regulation by modulation of Th cells type 1 and 2. It is composed of the CB2 receptor which is expressed at 10 to 100 folds greater levels on immune cells than the CB1 receptors. The CB2 is encoded by the cannabinoid CB receptor gene (CNR2) gene. This study aims to investigate the polymorphism in CNR2 gene variation rs 35761398 (Q63R) in Egyptian children with immune thrombocytopenic purpura and to investigate the relation between this gene polymorphism and either the susceptibility to or the chronicity of the disease. Forty children diagnosed as ITP were included in this study and 20 healthy children as normal control. CNR2 gene was investigated in those children by PCR RFLP technique (restriction fragment length polymorphism). CNR2 genotyping revealed that 45% of ITP patients had the QR heterotype, 50% had the RR homotype and 5% had QQ, the wild type with significantly higher frequency of homomutant genotype in comparison to controls. The relative odds ratio suggested a double risk for developing ITP in RR homotype (OR 2.152). A significant overpresentation of the RR genotype and of R allele was observed in the chronic patients (P=0.002 and 0.003, respectively). The associated risk to develop chronic ITP increased more than two folds for the RR homotype (OR=2.854). In conclusion, this study confirms the role of CNR2 Q63R polymorphism in the susceptibility to ITP in children and chronicity of the disease.


Subject(s)
Purpura, Thrombocytopenic, Idiopathic/genetics , Receptor, Cannabinoid, CB2/genetics , Case-Control Studies , Child , Egypt , Genetic Predisposition to Disease , Genotype , Humans , Polymorphism, Restriction Fragment Length
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