Relevance of PNPLA3, TM6SF2, HSD17B13, and GCKR Variants to MASLD Severity in an Egyptian Population.

Metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic fatty liver disease (NAFLD), is a frequent clinical condition globally. Single nucleotide polymorphisms (SNPs) associated with NAFLD have been proposed in the literature and based on bioinformatic screening. The association between NAFLD and genetic variants in Egyptians is still unclear. Hence, we sought to investigate the association of some genetic variants with NAFLD in Egyptians. Egyptians have been categorized into either the MASLD group (n = 205) or the healthy control group (n = 187). The severity of hepatic steatosis and liver fibrosis was assessed by a Fibroscan device. TaqMan-based genotyping assays were employed to explore the association of selected SNPs with MASLD. PNPLA3 rs738409 C>G variant is associated with the presence of MASLD with liver fibrosis, the severity of both hepatic steatosis and liver fibrosis, increased systolic and diastolic blood pressure and increased alanine aminotransferase (all p < 0.05), while the TM6SF2 rs58542926 C>T, HSD17B13 rs9992651 G>A, and GCKR rs1260326 T>C variants were not (all p > 0.05). The TM6SF2 rs58542926 T allele is associated with increased fasting blood glucose and a decreased waist circumference. The GCKR rs1260326 C allele is associated with decreased aspartate transaminase and diastolic blood pressure (all p < 0.05). Only after adjusting for the risk factors (age, sex, BMI, WC, HDL, TG, diabetes mellitus, and hypertension) F2 liver fibrosis score is negatively correlated with the HSD17B13 rs9992651 GA genotype. This study offers evidence for the association of the PNPLA3 rs738409 C>G variant with MASLD among Egyptians and for the association of the PNPLA3 rs738409 G allele, the TM6SF2 rs58542926 T allele, and the GCKR rs1260326 C allele with some parameters of cardiometabolic criteria.

The impact of a chemical reaction on the heat and mass transfer mechanisms in a dissipative and radiative nanofluid flow over a nonlinear stretching sheet.

This paper presents a numerical investigation of the flow of a non-Newtonian tangent hyperbolic nanofluid over a nonlinearly stretched surface, taking into account factors such as thermal radiation, prescribed surface temperature, and a chemical reaction mechanism. Furthermore, the analysis includes the consideration of both viscous dissipation and the influence of a magnetic field within a Darcy porous medium. A mathematical framework for addressing the issue, rooted in the principles of conserving momentum, energy, and mass. The MATHEMATICA tools were employed to apply the shooting technique in order to solve the modeled equations describing the temperature, velocity, and concentration fields of the proposed physical system. Graphs are used to illustrate how certain key parameters affect the profiles of concentration, velocity, and temperature. Data tables are utilized to display information pertaining to the local Nusselt number, local Sherwood number, and local skin friction coefficient. The present results have been confirmed through a comparison with previously published findings. This research holds significant importance as it focuses on the extensive utilization of tangent hyperbolic nanofluids in cooling electronic components that produce substantial heat during their operation. The observed pattern indicates that as the local Weisbsenberg number, magnetic number, local porous parameter, and power law index increase, there is a reduction in the boundary layer thickness. Conversely, in the instances of concentration and temperature distributions, an escalation in these parameters leads to an expansion of the boundary layer thickness.

Numerical simulation of the flow of a tangent hyperbolic fluid over a stretching sheet within a porous medium, accounting for slip conditions.

This study aims to explore the characteristics of tangent hyperbolic fluid flow along a stretching sheet. The sheet has suction or injection influences and is located inside a porous medium. The research inspects the flow and heat transfer (FHT) properties, taking into account the presence of a velocity slip condition. The flow of non-Newtonian magnetohydrodynamic fluid caused by a porous stretching sheet, taking into account thermal radiation and heat generation, has a wide range of engineering applications. These applications involve chemical reactors, energy distribution, storage of solar energy, and filtration processes. Mathematically, the flow problem is expressed as a collection of nonlinear partial differential equations. To numerically solve the resulting ODEs, the finite difference approach (FDM) is successfully used. Tables and graphs are used to display the various output values related to the hyperbolic tangent fluid. Among the different output values that appear are velocity and temperature. Significant observations from the study indicate that an increase in the power-law index, slip velocity parameter, porosity parameter, and magnetic number results in a decrease in the fluid's velocity and an increase in temperature. The completed comparison analysis shows a sizable degree of agreement with the earlier investigation.

Congenital Gastric Teratoma Presenting with Gastrointestinal Bleeding: Case Report and Review of Literature.

BACKGROUND: Gastric teratoma is an extremely rare tumor, representing <1% of all pediatric teratomas, and commonly manifests as a palpable abdominal mass. Upper gastrointestinal tract bleeding in newborns and infants is rare and is mostly caused by a benign lesion. CASE REPORT: We present a 3-month-old boy who presented with recurrent attacks of hematemesis, vomiting, and melena which on work up revealed a gastric teratoma. DISCUSSION/CONCLUSION: Owing to the unique characteristics and the extreme rarity of this entity, accurate preoperative diagnosis has remained elusive.

Utility of sustainable ratio derivative spectrophotometry for the concurrent assay of synergistic repurposed drugs for COVID-19 infections; Insilico pharmacokinetics proof.

The cutting-edge combination of fluvoxamine (FVM) and ivermectin (IVM) has been presented as a proposed dosage form for the treatment of COVID-19 infections in early diagnosed patients. The main objective of this work is to develop simple, sensitive, and efficient methods for the synchronous quantification of FVM and IVM without any prior separation. Four green UV-methods were employed for the synchronous quantification, namely: Fourier functions convolution of absorption spectra, FFAS, Fourier functions convolution of derivative spectra of absorption curves, FFDS, Fourier function convolution of ratio spectra of absorption curves, FFRS and the dual-wavelength method, DWM. FFRS and DWM approaches can be able to reconcile the two components' significantly interfering spectrum presented in this commixture. Good linearity was checked in the range of 5-40, and 2.5-25 µg/mL for the FVM, and IVM, respectively. All approaches developed have been recommended in compliance with ICH principles. Furthermore, the approaches' greenness was predestined by "National Environmental Method Index" (NEMI), "Analytical GREEnness metric (AGREE)", the "Analytical Eco-Scale", and the "Green Analytical Procedure Index" (GAPI). In addition, spider diagram was utilized for the assessment of the greenness index of the solvent used. Beside greenness, the sustainability of our methods was investigated using the HEXAGON tool. Continuing the constant pursuit of greenness, drug-drug interactions (DDIs) between FVM & IVM were predicted by insilico tools to ensure the safety of the suggested mixture as a preliminary step before invitro and in vivo studies. Because they were deemed sustainable, affordable, and successful, the suggested UV-methods may be used for routine quality control investigations of the indicated formulations FVM & IVM.

Numerical treatment of the radiated and dissipative power-law nanofluid flow past a nonlinear stretched sheet with non-uniform heat generation.

The main aim of this paper is to investigate the effect of non-uniform heat generation and viscous dissipation on the boundary layer flow of a power-law nanofluid over a nonlinear stretching sheet. Within the thermal domain, the analysis considers both thermal radiation and variable thermal conductivity. Through the use of similarity transformations, the governing boundary layer equations are transformed into a system of ODEs. The spectral collocation method (SCM) with shifted Vieta-Lucas polynomials (VLPs) is implemented to give an approximate expression for the derivatives and then use it to numerically solve the proposed system of equations. By employing this technique, the system of ODEs is converted into a system of nonlinear algebraic equations. The dimensionless temperature, concentration, and velocity are graphically presented and analyzed for various values of the relevant governing parameters. Through the presented graphical solutions, we can see that the main outcomes indicate that an increase in the power law index, thermal conductivity parameter, and radiation parameter leads to a noticeable decrease in the local Nusselt number, with reductions of around 0.05 percent, 0.23 percent, and 0.11 percent, respectively. In contrast, the Prandtl parameter demonstrates an opposing effect, elevating the local Nusselt number by about 0.1 percent. We validated the accuracy of the numerical solutions by comparing them in some special cases with existing literature.

A comparative study on the rheological properties of upper convected Maxwell fluid along a permeable stretched sheet.

The objective of this paper is to examine the flow of a non-Newtonian Maxwell fluid induced by a permeable stretching sheet in motion within a porous medium. The research incorporates the Cattaneo-Christov heat flux model to study the heat transfer process. The utilization of the Cattaneo-Christov heat flux approach becomes relevant in scenarios involving materials with high thermal conductivity or during short time intervals. Consequently, the current investigation holds significant importance. It is assumed that the viscosity of the Maxwell fluid changes exponentially as the temperature changes. The modeling of the physical phenomena being investigated takes into account the effects of a magnetic field, thermal radiation, velocity, and thermal slip conditions. In this study, the viscous dissipation phenomenon is taken into account because it can have notable impacts on the temperature and viscosity of the fluid, and is known to play a crucial role in fluid flow phenomena. The equations developed to model fluid flow are transformed into nonlinear ordinary differential equations through the use of appropriate similarity transformations. The focus of the research revolves around investigating the numerical solution of ordinary differential equations accompanied by boundary conditions using the shooting technique. The findings are then showcased via tables and graphs and scrutinized in order to arrive at conclusions. Furthermore, the precision of the present findings was evaluated by contrasting the heat transfer rate with outcomes that were previously published. Based on the obtained outcomes, it can be concluded that both the Eckert number and thermal radiation have a comparable enhancing influence, whereas the thermal relaxation parameter and thermal slip parameter exhibit opposing effects.

White targeted chromatographic screening method of Molnupiravir and its metabolite with degradation kinetics characterization and in-silico toxicity.

SARS-CoV-2 virus triggered a worldwide crisis, with world nations putting up massive efforts to halt its spread. Molnupiravir (MLN) was the first oral, direct-acting antiviral drug approved for nasopharyngeal SARS-CoV-2 infection with favorable safety and tolerability profile. This study aims at determination of MLN and N4-hydroxycytidine (NHC), its main degradation product and its main metabolite, using sensitive, simple, and green HPLC-DAD method. Moreover, under different stress conditions using NaOH, HCl, neutral, H2O2, dry heat and sun light, the method was applied for MLN assay along with kinetics degradation investigation. The linearity range for MLN and NHC were both 0.1-100 µg/mL with LOD and LOQ of 0.013 & 0.043 and 0.003 & 0.011 µg/mL, for MLN and NHC, respectively. MLN was found to be extremely vulnerable to alkali hydrolysis compared with acid and dry heat degradation. In contrast, MLN was stable under conditions of oxidative, neutral, and sunlight-induced deterioration. Acid and alkali-induced degradation followed pseudo first-order kinetics model. In addition, LC-MS-UV was used to suggest the mechanism of the stress-induced degradation route and to characterize the eluted degradation products. Toxicities of both MLN and its degradation products were evaluated using ProTox-II and they were found to be negligibly harmful. The proposed HPLC-DAD was effectively used for the analysis of MLN in commercial pharmaceutical formulations. The proposed method for MLN determination after greenness and whiteness appraisal was found to be superior compared to the reported methods for MLN analysis.

Bidirectional field-steering and atomic steering induced by a magnon mode in a qubit-photon system.

This paper investigates the cavity-magnon steering and qubit-qubit steering of a hybrid quantum system consisting of a single-mode magnon, a two-qubit state, and a single-mode cavity field in the presence of their damping rates. The temporal wave vector of the system is obtained for the initial maximally entangled two-qubit state and initial vacuum state of the magnon and cavity modes. Additionally, the mathematical inequalities for obtaining the cavity-magnon steering and qubit-qubit steering are introduced. The findings reveal that steering between the magnon and cavity is asymmetric, while steering between the two qubits is symmetric in our system. Increasing the atom-field coupling improves steering from magnon to field, while reducing steering between the two qubits. Moreover, increasing magnon-field coupling enhances and elevates the lower bounds of qubit-qubit steering. Further, adding the damping rates causes deterioration of the cavity-magnon steering and qubit-qubit steering. However, the steering persistence is slightly greater when damping originates from the cavity field rather than the magnon modes based on the coupling parameters.

MHD dissipative Powell-Eyring fluid flow due to a stretching sheet with convective boundary conditions and slip velocity.

The novelty and motivation of this research can be emphasized by examining how the heat transfer mechanism of a non-Newtonian Powell-Eyring fluid, which flows because of a stretched sheet, is affected by factors like viscous dissipation, the slip velocity phenomenon, and Joule heating. In addition, the investigation delves into the heat transfer behavior of the fluid flow when it comes into contact with a convectively heated stretched surface that is influenced by varying fluid properties. This analysis also takes into account the influence of changing fluid characteristics and the presence of magnetic field. The numerical solutions of modelled equations that governing the problem are detected using the shooting technique. Also, in order to confirm the validity of the present investigation, a proper comparison with certain published works as a particular case of the present model is presented, and a perfect agreement is noted. With the use of diagrams and tables, the flow problem's effective parameters are thoroughly discussed. Likewise, through a tabular representation, the values of the local Nusselt number and the skin-friction coefficient are computed and analyzed. Many significant conclusions can be drawn from numerical results. Most importantly, the local Nusselt number rises monotonically with both the surface convection parameter and the slip velocity parameter, but the local skin-friction coefficient has the opposite trend. The results indicate that the nanofluid temperature is enhanced by factors such as the surface convection parameter, magnetic field, and viscous dissipation. On the other hand, the slip velocity phenomenon leads to the opposite effect.

The added value of brain MR spectroscopy in children with Crigler-Najjar syndrome type-I: correlation with demographic, neurodevelopmental, and laboratory findings.

OBJECTIVE: The aim of this study is to demonstrate the role of proton magnetic resonance spectroscopy (1H-MRS) in the detection of brain microstructural changes in patients with Crigler-Najjar syndrome type-I (CNs-I), and its correlation with demographic, neurodevelopmental and laboratory findings. METHODS: Prospective study was conducted on 25 children with CNs-I and 25 age and sex-matched children, who served as control. They underwent multivoxel 1H-MRS of basal ganglion at echo time 135-144 ms. N-acetyl aspartate/Creatine (NAA/Cr) and Choline (Ch)/Cr were calculated and correlated with demographic, clinical, and laboratory findings of patients with CNs-I. RESULTS: There was a significant difference in NAA/Cr and Ch/Cr between patients and controls. The cut-off value for NAA/Cr and Ch/Cr used to differentiate patients from controls were 1.8 and 1.2 with an area under the curve (AUC) of 0.91 and 0.84 respectively. There was a significant difference in MRS ratios between patients with neurodevelopmental delay (NDD) and patients without NDD. The cut-off values for NAA/Cr and Ch/Cr used to differentiate between patients with NDD and patients without NDD were 1.47 and 0.99, with AUC of 0.87 and 0.8 respectively. The NAA/Cr and Ch/Cr were well correlated with family history (p = 0.006 and p < 0.001) respectively, consanguinity (p < 0.001 and p = 0.001), neurodevelopmental delay (p = 0.001 and p = 0.004), serum bilirubin level (r = -0.77, p < 0.001), (r = -0.49, p = 0.014), phototherapy (p < 0.001 and p = 0.32), blood transfusion (p < 0.001 and p = 0.001) respectively. CONCLUSION: 1H-MRS can be a useful tool in the detection of neurological changes in patients with CNs-I; NAA/Cr and Ch/Cr parameters are well correlated with demographic, clinical, and laboratory findings. ADVANCES IN KNOWLEDGE: Our study is the first report on using MRS in assessing neurological manifestations in CNs. 1H-MRS can be a useful tool in the detection of neurological changes in patients with CNs-I.

MHD Dissipative Williamson Nanofluid Flow with Chemical Reaction Due to a Slippery Elastic Sheet Which Was Contained within a Porous Medium.

The reasons why the model of non-Newtonian nanofluids is more applicable than other models, particularly those that take the porous medium into account, are studied here. Thus, we looked at the heat and mass transfer features of a non-Newtonian Williamson nanofluid flow due to a stretched sheet under the impact of chemical reactions, slip velocity, viscous dissipation, and the magnetic field in this article. The main focus is on a situation in which the properties of Williamson nanofluid, such as viscosity and thermal conductivity, change with temperature. After utilizing the shooting technique, a numerical solution to the suggested problem is provided. As a result, several graphs have been drawn to highlight how various physical characteristics that arise in the problems affect velocity, temperature, and concentration profiles. It was discovered that the heat and mass transmission processes are affected by the viscous dissipation phenomena, the slip velocity assumption, and the magnetic field. Theoretical and numerical results show a high level of qualitative agreement.

Impact of Cardiac Injury on the Clinical Outcome of Children with Convulsive Status Epilepticus.

OBJECTIVES: the aim of this study was to determine the impact of cardiac injury on clinical profile, cardiac evaluation and outcome in patients hospitalized with convulsive status epilepticus (CSE). MATERIALS AND METHODS: this prospective observational study included 74 children with CSE. Cardiac injury was evaluated and defined using combination of cardiac troponin, electrocardiography (ECG) and echocardiography. Clinical outcome and mortality rates were compared in patients with and without cardiac injury. RESULTS: A total of 74 patients with CSE were included in the study. Thirty-six (48.6%) patients demonstrated markers of cardiac injury. ECG changes occurred in 45.9% and echocardiographic signs of left ventricular systolic and diastolic dysfunction reported in 5.4% and 8.1%, respectively. The mean length of hospital stays and need for ICU admission were significantly higher in patients with cardiac injury compared to others. One third of patients with cardiac injury needed mechanical ventilation and this was significantly higher than patients without (p = 0.042). hypotension and/or shock developed in 25% of cardiac injury patients and most of them required inotropic support; this was significantly higher than others without markers of cardiac injury. The overall mortality in cardiac injury group was higher (13.9% vs. 2.6%); however, this difference was not statistically significant. CONCLUSION: Markers of cardiac injury were common and associated with poor clinical outcome and higher risk of mortality in patients with CSE, so extensive routine cardiovascular evaluation is essential in these patients.

Diffusion Tensor Imaging of Auditory Pathway in Patients With Crigler-Najjar Syndrome Type I: Correlation With Auditory Brainstem Response.

AIM: To evaluate the role of diffusion tensor imaging of the auditory pathway in patients with Crigler Najjar syndrome type I and its relation to auditory brainstem response. METHODS: Prospective study was done including 12 patients with Crigler Najjar syndrome type I and 10 age- and sex-matched controls that underwent diffusion tensor imaging of brain. Mean diffusivity and fractional anisotropy at 4 regions of the brain and brainstem on each side were measured and correlated with the results of auditory brainstem response for patients. RESULTS: There was significantly higher mean diffusivity of cochlear nucleus, superior olivary nucleus, inferior colliculus, and auditory cortex of patients versus controls on both sides for all regions (P = .001). The fractional anisotropy of cochlear nucleus, superior olivary nucleus, inferior colliculus, and auditory cortex of patients versus controls was significantly lower, with P values of, respectively, .001, .001, .003, and .001 on the right side and .001, .001, .003, and .001 on left side, respectively. Also, a negative correlation was found between the maximum bilirubin level and fractional anisotropy of the left superior olivary nucleus and inferior colliculus of both sides. A positive correlation was found between the mean diffusivity and auditory brainstem response wave latency of the right inferior colliculus and left cochlear nucleus. The fractional anisotropy and auditory brainstem response wave latency of the right superior olivary nucleus, left cochlear nucleus, and inferior colliculus of both sides were negatively correlated. CONCLUSION: Diffusion tensor imaging can detect microstructural changes in the auditory pathway in Crigler Najjar syndrome type I that can be correlated with auditory brainstem response.

Association of the myosin heavy chain 9 gene single nucleotide polymorphism with inflammatory bowel disease.

BACKGROUND: To date, the cause of inflammatory bowel disease (IBD) remains a mystery. A balance between cell proliferation and apoptosis maintains intestinal tissue homeostasis. Dissociation-induced myosin-actin contraction results in stem cell apoptosis. This study aiming to evaluate the influence of the myosin heavy chain 9 (MYH9) gene single nucleotide polymorphisms (SNPs) on inflammatory bowel disease. SUBJECTS: and methods: The study carried on eighty patients with IBD and seventy controls. All participants subjected to history taking, thorough physical examination, colonoscopy and laboratory investigations. Genotyping performed for rs4821480 and rs3752462 by SNP assay real-time PCR methods. RESULTS: On analyzing rs3752462 CT and TT genotypes were significantly more frequent in IBD patients as compared to controls with 4.6 fold increase in the risk of IBD. While on analyzing rs4821480, The TG and GG genotypes have significant increased distribution among the IBD patients as compared to the controls with 5.3 fold increase in the risk of IBD and higher prevalence of GG genotype in patients with low hemoglobin level and higher BMI. CONCLUSION: The rs3752462 T allele and rs4821480 G allele of MYH9 are associated with more susceptibility to IBD.

The role of diffusion tensor imaging of the liver in children with autoimmune hepatitis.

PURPOSE: To evaluate the role of diffusion tensor imaging (DTI) of the liver in children with autoimmune hepatitis (AIH). MATERIAL AND METHODS: A prospective study was done on 42 children with AIH (30 girls and 12 boys, with a mean age of 13 years) and 20 age- and sex-matched healthy control children. They underwent DTI of the liver and laboratory tests. Liver biopsy was done for the patients. The mean diffusivity (MD) and fractional anisotropy (FA) of the liver were calculated and correlated with the pathological results. RESULTS: The mean MD and FA of the liver in children with AIH were 1.42 ± 0.06 × 10-3 mm2/s and 0.37 ± 0.11; and in the control children they were 1.55 ± 0.07 × 10-3 mm2/s and 0.25 ± 0.03, respectively. The MD and FA were significantly different in the children with AIH compared to the control children (p = 0.001). The cutoff MD and FA used to differentiate patients from controls were 1.50 × 10-3 mm2/s, 0.31 with AUC of 0.919 and 0.813, sensitivity of 97.6% and 66.7%, a specificity of 80% and 70%, an accuracy of 94.2% and 67.3%, PPV of 95.3 and 90.3, and NPV of 88.9 and 33.3, respectively. There was significantly lower MD and higher FA of the liver in children with AIH type I (n = 31) than type II (n = 11) (p = 0.001), and patients with (n = 9) and without (n = 33) overlap syndrome (p = 0.005). CONCLUSIONS: We concluded that DTI parameters can help to diagnose AIH, detect its phenotyping, and give clues as to the presence of associated overlap syndrome.

Short-term effect of adding Graston technique to exercise program in treatment of patients with cervicogenic headache: a single-blinded, randomized controlled trial.

BACKGROUND: Physical therapists may use the Graston technique to relieve soft-tissue restrictions and pain in the upper cervical region. However, no studies have tested the efficacy of the Graston technique in patients with cervicogenic headache. AIM: The aim of the study was to investigate the effect of adding the Graston technique to an exercise program on pain intensity, neck disability, cervical range of motion, headache frequency and duration, and medication intake in subjects with cervicogenic headache. DESIGN: The design of this study was a single-blinded (assessor), randomized controlled trial. SETTING: The setting was outpatient rehabilitation clinic. POPULATION: Sixty patients, from 35 to 50 years old, with cervicogenic headache have participated in the study. Patients were recruited from the outpatient clinics of Tala general hospital in Menoufia governorate. METHODS: Patients were assigned randomly into two groups. Patients in the study group received the Graston technique in addition to an exercise program, while patients in the control group received the exercise program only. All patients received 3 sessions a week for 4 weeks. The primary outcome measure was the Visual Analogue Scale (VAS), while the secondary outcome measures were Neck Disability Index (NDI), Cervical Range of Motion (CROM), headache frequency and duration, and medication intake. All outcomes were measured at baseline, after 2 weeks as well as after 4 weeks of intervention. RESULTS: After 2 weeks of the treatment, statistically significant differences were found in all the measured outcomes (P<0.05) in favor of the Graston group except for neck extension (P=0.08). After 4 weeks of the intervention, statistically significant differences were found in all the measured outcomes (P<0.05) in favor of the Graston group. CONCLUSIONS: Short-term effect of using the Graston technique in combination with an exercise program can reduce pain, decrease headache frequency and duration, and medication intake more than the exercise program alone in the medium-term. CLINICAL REHABILITATION IMPACT: Although the study results for NDI and neck ROM were statistically significant, it is neither clinically relevant change nor clearly outside the range of measurement error.

Correction: Polymorphism in Macrophage Migration Inhibitory Factor -173GC in Pediatric Patients with Autoimmune Hepatitis.

[This corrects the article on p. 63 in vol. 23, PMID: 31988876.].

Diffusion Tensor Imaging of Microstructural Changes in the Gray and White Matter in Patients With Crigler-Najjar Syndrome Type I.

PURPOSE: This study aimed to evaluate the role of diffusion tensor imaging of microstructural changes in gray and white matter in Crigler-Najjar syndrome type I. PATIENT AND METHODS: A prospective study was conducted on 10 patients with Crigler-Najjar syndrome type I and 10 age- and sex-matched children who underwent diffusion tensor imaging of the brain. Mean diffusivity (MD) and fractional anisotropy (FA) of gray and white matter were measured. RESULTS: There was a significantly higher MD of the gray matter regions including the globus pallidus, thalamus, caudate head, substantia nigra, and dentate nucleus in patients versus controls (P = 0.007, 0.001, 0.014, 0.003, and 0.002), respectively. The areas under the curve (AUC) of MD of the globus pallidus and thalamus used to differentiate patients from controls were 0.93 and 0.925, respectively. There was a significant difference in MD of the frontal white matter and posterior limb of the internal capsule in patients versus controls (P = 0.001 and 0.02), respectively. The AUCs of MD of these regions used to differentiate patients from controls were 0.82 and 0.8. There was a significant difference in FA of the frontal white matter and posterior limb of the internal capsule in patients versus controls (P = 0.006 and 0.006), respectively. The AUCs of FA of these regions were 0.83 and 0.85, respectively. The MD of the globus pallidus correlated with serum bilirubin (r = 0.87 and P = 0.001). CONCLUSION: Diffusion tensor imaging can detect microstructural changes of deep gray matter and some regions of white matter in Crigler-Najjar syndrome type I.

Polymorphism in Macrophage Migration Inhibitory Factor -173GC in Pediatric Patients with Autoimmune Hepatitis.

PURPOSE: Autoimmune hepatitis (AIH) is a chronic disease that may lead to cirrhosis. The immunopathogenesis of AIH is not fully understood and it mainly involves T-cell mediated mechanism. Macrophage migration inhibitory factor (MIF) is a pro-inflammatory cytokine that promotes T cell response and its polymorphism may serve as a severity marker of AIH. No previous study has considered investigating MIF polymorphism in children with AIH. METHODS: Forty-two children with definite diagnosis of AIH were enrolled along with 100 age and sex matched controls. All participants were tested for polymorphism at -173GC (rs755622) of MIF gene. All patients received the standard protocol of steroid plus azathioprine to achieve remission. Liver biopsy was performed at time of diagnosis for all patients and only 18 of them underwent a second biopsy after treatment. RESULTS: No statistically significant differences in the frequency of the genotypes GG and GC or in allele distribution were found in both patient and control groups (p=0.590, 0.640 respectively). Initial alanine aminotransferase (ALT) levels at the time of presentation was significantly higher in the GC group than GG group (p=0.020). GC genotype significantly correlated with disease relapse (r=0.41, p=0.007). Regression of necroinflammation and the fibrosis score in the second liver biopsy was statistically significant in the GG group (p<0.0001, p=0.010 respectively). CONCLUSION: MIF -173GC polymorphism is associated with clinically significant markers of pediatric AIH, including increased initial serum ALT levels, may help predict necroinflammatory/fibrosis regression effectively, following immunosuppressive treatment.