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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 , ThyrotropinABSTRACT
BACKGROUND: The linkage between prolactin (PRL) and systemic lupus erythematosus (SLE) is still vague. Determination of serum levels of prolactin to reveal its role in patients with SLE is the aim of the study. METHODS: This is a case-control study performed on 40 children with SLE and 40 age- and sex-matched controls. Cases were further subdivided according to disease activity into mild, moderate, and severe groups using the SLEDAI (Systemic Lupus Erythematosus Disease Activity Index) score. Serum prolactin levels were assayed by ELISA (enzyme-linked immunosorbent assay). RESULTS: prolactin level was significantly higher in SLE patients (17.3 ± 6.6 µg/L) than in controls (13.5 ± 5.3 µg/L) (P value = 0.005). Although the prolactin level was highest in severe cases (19.3 ± 7.7 µg/L), followed by moderate cases (17.0 ± 5.3 µg/L), and lowest in mild cases (14.0 ± 6.2 µg/L), the variance between the 3 groups was not statistically significant (P value = 0.212). A significant positive correlation between prolactin level and SLEDAI score was detected (r = 0.368) (P value = 0.019). Hyperprolactinemia was found in 8 patients (20%) but not in controls; 4 out of 8 patients with hyperprolactinemia (50%) showed neurological manifestations compared to only 3 out of 32 patients with a normal prolactin level (9.4%) (P value = 0.007). CONCLUSION: A relationship between serum prolactin levels and juvenile SLE disease was detected. Neurological manifestations were more prevalent among SLE patients with hyperprolactinemia.
Subject(s)
Hyperprolactinemia , Lupus Erythematosus, Systemic , Child , Humans , Prolactin , Hyperprolactinemia/etiology , Case-Control Studies , Enzyme-Linked Immunosorbent AssayABSTRACT
Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological stress. Aim: Detection of a spectrum of aberrations in the CYP21A2 gene, including copy number variations, gene conversion, chimeric genes, and point variations. Methods: The CYP21A2 gene was screened using MLPA assay in 112 unrelated Egyptian children with 21-OHD CAH (33 males and 79 females). Results: In the studied group, 79.5% were diagnosed within the first month of life. 46.8% of the genetic females were misdiagnosed as males. Among the copy number variation results, large deletions in 15.4% and three types of chimeric genes in 9% (CH-1, CH-7, and CAH-X CH-1) were detected. Regarding gene dosage, one copy of CYP21A2 was found in 5 cases (4.5%), three copies were detected in 7 cases (6.3%), and one case (0.9%) showed four copies. Eight common genetic variants were identified, I2G, large deletions, large gene conversion (LGC), I172N, F306 + T, -113 SNP, 8bp Del, and exon 6 cluster (V237E and M239K) with an allelic frequency of 32.62%, 15.45%, 7.30%, 3.00%, 2.58%, 2.15%, 0.86%, and 0.86%, respectively. Conclusion: High prevalence of copy number variations highlights the added value of using MLPA in routine laboratory diagnosis of CAH patients.
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PURPOSE: Cushingoid features are occasionally encountered in infants after pediatric cataract surgery. The aim of this study is to evaluate whether the use of topical glucocorticoids (GCs) following congenital cataract surgery can result in endogenous adrenal suppression and/or systemic side effects similar to those seen with systemic steroids. METHODS: A prospective study was performed on 20 infants with bilateral congenital cataract. All infants received a single subconjunctival betamethasone injection of 1 mg at the end of surgery in addition to topical dexamethasone eye drops 1 mg/ml for 6 weeks. All infants had anthropometric measurements and blood pressure measurements, serum cortisol, and ACTH level measurements before surgery and 2 months after. In addition, the total administered glucocorticoid adjusted per weight was calculated. RESULTS: The mean age of the infants was 4.93 ± 2.58 months. Thirteen were males (65%). The total administered glucocorticoid dose was 18.7 mg and the mean cumulative dexamethasone equivalent dose administered was 2.75 ± 1.31 mg/kg. There was a statistically significant increase in the adjusted weight percentile for age (P = 0.009). Both the systolic and diastolic blood pressure were significantly elevated (P = 0.005 and P = 0.025 respectively). There was a statistically significant reduction in both the morning and afternoon serum ACTH levels (P = 0.023 and P = 0.014). The reduction in serum cortisol levels was statistically non-significant. CONCLUSIONS: Topical steroids following pediatric cataract surgery can result in both subclinical and clinical changes in the hypothalamic-pituitary-adrenal axis that can be easily overlooked and need careful attention and follow-up.
Subject(s)
Cataract , Hydrocortisone , Adrenal Cortex Hormones , Adrenocorticotropic Hormone , Child , Dexamethasone , Glucocorticoids , Humans , Hypothalamo-Hypophyseal System , Infant , Male , Pituitary-Adrenal System , Prospective StudiesABSTRACT
OBJECTIVES: We aimed to examine the association between abdominal fat measured by ultrasound and anthropometric indices in children with obesity, and those with normal weight. We also examined the association between anthropometry and fat measures in the prediction of comorbidities in children with obesity. METHODS: Forty children with body mass index of >95th percentile were included as cases, and a comparable group of 32 healthy average-weight peers were included as controls in this study. All children underwent clinical assessment, anthropometric measures, and evaluation of abdominal subcutaneous fat (SCF) and visceral fat by ultrasound. Fasting blood sugar, serum transaminases, and lipid profile of all the included children were also evaluated. RESULTS: Children with obesity had a mean age of 8.7â±â2.9 years (range 3-13). The SCF and intraperitoneal fat (IPF) values correlated well with each other and with anthropometric measurements in children with obesity. Among all the included cases, 90% were metabolically unhealthy, 70% had hypertension, 52.5% had dyslipidemia, and 22.5% had echogenic liver. Anthropometric measures, abdominal SCF and IPF were higher in children with complications. SCF was observed as a good predictor for hepatic echogenicity among the measured ultrasound parameters (P: 0.03, odds ratio 4.6). The best cutoff value for SCF in cases with hepatic echogenicity was 23.2âmm with an overall accuracy of 80%. CONCLUSIONS: In children with obesity, abdominal SCF and IPF correlated well with anthropometric measures and were higher in children with comorbidities. This finding, however, did not predict comorbidities apart from those with echogenic liver.
Subject(s)
Adipose Tissue , Anthropometry , Obesity , Ultrasonography , Adolescent , Body Mass Index , Child , Child, Preschool , Cross-Sectional Studies , Humans , Intra-Abdominal Fat/diagnostic imaging , Obesity/complications , Obesity/diagnosisABSTRACT
PURPOSE: Currently available markers for early detection of diabetic nephropathy (DN), the leading cause of end stage renal disease, have some limitations. There is insufficient evidence from previous studies about the role of several circulating microRNAs (miRNAs) in the early development of DN. This study aimed to describe the expression of miRNA-377, miRNA-93, miRNA-25, miRNA-216a, and miRNA-21 in a sample of type 1 diabetic children and adolescents to explore their association with DN and some indices of kidney injury. PATIENTS AND METHODS: Seventy type 1 diabetic patients, with 5 years' duration of diabetes or more, were recruited from Children's Hospital, Faculty of Medicine, Cairo University. Quantitative real-time reverse-transcription PCR (qRT-PCR) was used to measure the expression of the above mentioned miRNAs in serum and to assess its association with DN, and the studied risk factors. RESULTS: There was a significantly higher percentage of up-regulation of miRNA-377 and miRNA-93 (P=0.03, 0.02, respectively) in addition to significant down-regulation of miRNA-25 (P=0.01) in patients with DN than in patients without DN. In patients with DN, expression of miR-216a was significantly negatively correlated with creatinine (r=-0.4, P=0.04) and positively correlated with eGFR using creatinine (r=0.5, P=0.03). In the same group, expression of miR-21 was positively correlated with urinary cystatin C (r=0.6, P=0.01) and was negatively correlated with e-GFR using cystatin c (r=-0.6, P=0.01). miRNA-93 was associated with increased risk (odds ratio=15, 95% CI=12.03-24.63, P=0.01), while miRNA-25 was associated with decreased risk for albuminuria (odds ratio=0.15, 95% CI=0.08-0.55, P=0.03). CONCLUSION: miRNA-377, miRNA-93, miRNA-216a, and miRNA-21 may be implicated in the pathogenesis of DN, while miRNA-25 may have a reno-protective role. More studies are needed to document the value of these miRNAs as diagnostic biomarkers as well as therapeutic targets in DN.
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Objective: Dyslipidemia and endothelial dysfunction are common disorders and major causative factors for atherosclerosis in patients with type 1 diabetes mellitus (T1DM). However, their pathophysiology in young patients with T1DM is still under evaluated. We aimed, for the first time, to assess the expression of exosomal micro-RNA 34a (miR-34a) in serum of children and adolescents with T1DM and correlate this expression with markers of dyslipidemia and endothelial dysfunction. Methods: The study included 120 T1DM patients and 100 control subjects. Assessment of miR-34a was performed using quantitative real-time polymerase chain reaction. Lipid profile was assessed on an automated analyzer and serum endoglin and intracellular adhesion molecule (ICAM) concentrations were measured using immunometric methods. Results: Relative expression of miR-34a and serum endoglin and ICAM concentrations were higher in patients than controls (p=0.001) and in patients with dyslipidemia (42 patients) compared to patients without dyslipidemia (78 patients) (p=0.01). Linear regression analysis revealed a strong independent association between exosomal miR-34a expression and total cholesterol, low-density lipoprotein, serum endoglin and serum ICAM after adjustment for other cofactors. The utility of miR-34a as an indicator for associated dyslipidemia was tested using receiver operator characteristic curve analysis which revealed area under the curve: 0.73 with confidence interval: 0.63-0.83 and p=0.001. Conclusion: This was the first study to show the altered expression of exosomal miR-34a among children and adolescents with T1DM. Moreover, association of miR-34a with markers of dyslipidemia and endothelial dysfunction was identified, suggesting that it could play a role in regulation of lipid metabolism and endothelial function in T1DM.
Subject(s)
Diabetes Mellitus, Type 1/physiopathology , Dyslipidemias/diagnosis , Endothelium, Vascular/pathology , Exosomes/genetics , MicroRNAs/genetics , Adolescent , Case-Control Studies , Child , Cross-Sectional Studies , Dyslipidemias/epidemiology , Dyslipidemias/genetics , Egypt/epidemiology , Female , Follow-Up Studies , Humans , Male , Prognosis , Signal TransductionABSTRACT
BACKGROUND: Insulin resistance (IR) plays a great role in type 1 diabetes (T1DM) disease process than is commonly recognized. Dipeptidyl peptidase-4 (DPP-4) is an enzyme that deactivates many bioactive peptides involved in glucose regulation. AIMS: This study evaluates DPP-4 level in adolescent patients with T1DM compared to controls and investigates the relationship between DPP-4 level and IR in these patients. MATERIALS AND METHODS: We measured serum DPP-4 level in 50 patients with T1DM recruited from the Diabetes Endocrine Metabolism Pediatric Unit, and in 80 healthy controls. IR was assessed by the equation for estimated glucose disposal rate (eGDR). Biochemical evaluation including glycated haemoglobin (HbA1C) and lipid profile were included. RESULTS: IR was found in 80% of patients with T1DM. DPP-4 was significantly higher in control group than patients with T1DM. Patients with T1DM were classified into 3 groups according to DPP-4 tertiles showing significant increase in BMI SDS and total cholesterol across the 3 groups. Significant correlation was found between DPP-4 levels and insulin dose. DPP-4 was significantly higher in patients with T1DM with good glycemic control. CONCLUSION: In sample of individuals researched by us, serum DPP-4 was related to adiposity and not to the hyperglycemia in patients with T1DM. Larger sample should be researched to make firm conclusions.
Subject(s)
Adiposity , Diabetes Mellitus, Type 1/blood , Dipeptidyl Peptidase 4/blood , Insulin Resistance , Adolescent , Case-Control Studies , Female , Humans , MaleABSTRACT
BACKGROUND: The outcomes of most therapeutic modalities for recurrent aphthous ulcer (RAU) are still unsatisfactory. AIM: To evaluate lactic acid 5% mouth wash vs Kenalog in Orabase for treatment and prophylaxis of RAU. PATIENTS/METHODS: Forty cases with early-onset idiopathic RAU were enrolled in this study. Patients were divided into two equal groups; group A patients had used Kenalog in Orabase twice daily, and group B patients had used lactic acid 5% mouth wash 3 times daily. All patients had used the therapy for 1-2 weeks according to patients' clinical response that was evaluated according to oral clinical manifestations index (OCMI); before therapy, during course of treatments and in follow-up visits. RESULTS: At the ends of both first and second weeks, from beginning of therapy, OCMI was reduced more in group B patients than in group A with statistically significant results. These results revealed that group B achieved more reduction in the size, pain, and healing time of RAU. During the follow-up period, group A showed 40% recurrence rate while group B showed 5% only. CONCLUSIONS: Lactic acid 5% mouth wash is natural, safe, and effective so it is better alternative to corticosteroids for treatment and prophylaxis of RAU without any side effects.
Subject(s)
Carboxymethylcellulose Sodium/analogs & derivatives , Lactic Acid/administration & dosage , Mouthwashes/administration & dosage , Stomatitis, Aphthous/drug therapy , Triamcinolone Acetonide/administration & dosage , Adult , Carboxymethylcellulose Sodium/administration & dosage , Carboxymethylcellulose Sodium/adverse effects , Drug Administration Schedule , Drug Combinations , Female , Follow-Up Studies , Humans , Lactic Acid/adverse effects , Male , Middle Aged , Mouthwashes/adverse effects , Recurrence , Severity of Illness Index , Stomatitis, Aphthous/diagnosis , Stomatitis, Aphthous/prevention & control , Treatment Outcome , Triamcinolone Acetonide/adverse effects , Young AdultABSTRACT
Background Recent emerging evidence supports the role of miR-196a2 in various human diseases. However, its role in type 1 diabetes mellitus (T1DM) is still underestimated. We aimed, for the first time, to investigate the expression of miR-196a2 in T1DM and the association of miR-196a2 (rs11614913) polymorphism with susceptibility of T1DM in a sample of patients from Cairo, Egypt. Methods The study included 150 patients and 150 healthy subjects. Evaluation of rs11614913 genotypes and miR-196a2 expression was done using the allelic discrimination and quantitative reverse transcriptase polymerase chain reaction (PCR) method, respectively. Results The Hardy-Weinberg equilibrium of single nucleotide polymorphism(SNP) was detected among controls (p = 0.2). Our results revealed that the TT genotype was more frequent in patients (22.6%) than controls (10%) while the CC genotype was more frequent in controls (47.3%) than patients (39.3%) (p = 0.01). The frequency of the T allele was significantly higher in patients than in controls (41.7 vs. 31.3%), while the C allele was more frequent in controls (p = 0.008). After adjustment for traditional risk factors, the association of the TT genotype with T1DM remained significant (TT vs. CC, odds ration [OR] = 3.2, 95% confidence interval [CI]: 1.4-7.4, p = 0.005). Power analysis of the data yielded a statistical power of 80% for the miR-196a2 rs11614913 with T1DM. Relative expression of miR-196a2 showed significant decrease in patients compared to controls (median = 0.09, 0.5, interquartile range [IQR] = 0.03-1.6, 0.1-2.1). However, miR-196a2 expression showed no significant difference between different rs11614913 genotypes (p = 0.5). Conclusions Our findings demonstrated that miR-196a rs11614913 is associated with T1DM and decreased expression of miR-196a2 may play a role in pathogenesis of T1DM.
Subject(s)
Biomarkers/analysis , Diabetes Mellitus, Type 1/genetics , MicroRNAs/genetics , Polymorphism, Single Nucleotide , Adolescent , Adult , Case-Control Studies , Child , Child, Preschool , Cross-Sectional Studies , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 1/pathology , Egypt/epidemiology , Female , Follow-Up Studies , Genetic Predisposition to Disease , Genotype , Humans , Infant , Male , Pilot Projects , Prognosis , Risk Factors , Young AdultSubject(s)
Biomarkers/analysis , Diabetes Mellitus, Type 1/physiopathology , Metabolic Syndrome/epidemiology , Metabolic Syndrome/metabolism , Adolescent , Cross-Sectional Studies , Egypt/epidemiology , Female , Follow-Up Studies , Humans , Male , Metabolic Syndrome/pathology , Prevalence , PrognosisABSTRACT
CYP21A2 genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype-phenotype correlations has facillitated adequate genetic counseling and prenatal management for at-risk families. Despite extensive efforts to establish a clear genotype-phenotype correlation, some discordance remains. Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of CYP21A2 mutations may help confirm the diagnosis. We review the diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. Other diagnostic entities should be considered in the absence of convincing genetic data.
Subject(s)
Adrenal Hyperplasia, Congenital/enzymology , Adrenal Hyperplasia, Congenital/genetics , Mutation , Steroid 21-Hydroxylase/genetics , Adrenal Hyperplasia, Congenital/diagnosis , Child, Preschool , DNA Mutational Analysis , Disorders of Sex Development/diagnosis , Disorders of Sex Development/enzymology , Disorders of Sex Development/genetics , Egypt , Exons , Female , Genetic Association Studies , Genetic Profile , Humans , Infant , Infant, Newborn , Introns , MaleABSTRACT
PURPOSE: To determine whether type 1 diabetes (T1DM) in children with a mean age of 12.21 ± 3.04 years affects the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) when compared to age- and sex-matched healthy children. METHODS: Forty-six children with T1DM with no diabetic retinopathy (DR) and 50 normal age- and sex-matched controls underwent full clinical ophthalmic and spectral-domain optical coherence tomography (SD-OCT) examination. Using RTVue Fourier-Domain OCT (version 6.11.0.12) average, superior, and inferior RNFL and GCC thicknesses (in µm) were measured. Mean values of patients and the control group were compared. RESULTS: In children with T1DM with no DR, the mean average RNFL thickness was 110.9 µm ± 10.46, and the mean GCC thickness was 95.59 µm ± 5.13; both were significantly thinner than the control group (115.62 µm and 99.30 µm, respectively). The retinal nerve fiber layer and GCC thickness showed no correlation to either age of onset, duration of the disease, or glycosylated hemoglobin (HbA1c). A positive correlation was found between the daily insulin dose and the average RNFL thickness (r = 0.378, P = 0.01). The average GCC in children with dyslipidemia was thinner than those with normal lipid profile (91.29 ± 6.46 µm, 97.11 ± 3.59 µm, respectively) with a P value of 0.011. CONCLUSIONS: Thinning of the RNFL and GCC in children with T1DM with no DR compared to healthy controls suggests that neurodegenerative changes occur in the absence of vascular changes. It also shows that neurodegeneration is not related to either disease duration, onset, or control.
Subject(s)
Diabetes Mellitus, Type 1/diagnosis , Nerve Fibers/pathology , Retinal Ganglion Cells/pathology , Tomography, Optical Coherence/methods , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Diabetic Retinopathy , Female , Follow-Up Studies , Humans , Male , Ophthalmoscopy , Retrospective Studies , Severity of Illness IndexABSTRACT
OBJECTIVE: The aim of this work was to evaluate receptive and expressive language skills in children with congenital hypothyroidism receiving early hormonal replacement treatment before the age of 3 months and to identify any subtle areas of weaknesses in their language development to check the necessity for future language intervention. PATIENTS AND METHODS: The study was conducted on 30 hypothyroid children receiving hormonal replacement. They were subdivided into group I (5-8 years 11 months; 12 cases) and group II (9-12 years 11 months; 18 cases). All patients were subjected to a protocol of assessment applied in the Diabetes, Endocrine and Metabolism Pediatric Unit (DEMPU) and evaluation of language skills by the REAL scale. RESULTS: The younger group reached average Arabic language scores, while the older group showed moderate language delay. CONCLUSION: Early replacement therapy supports language development in young children. However, longitudinal and follow-up studies are required to identify difficulties presenting at older ages that may affect children in the academic settings.