The role of online hemodiafiltration with endogenous reinfusion in the treatment of systemic lupus erythematosus activity resistant to conventional therapy.

Introduction: Lupus is a diverse autoimmune disease with autoantibody formation. Lupus nephritis carries a grave prognosis. Complement involvement, namely, C1q deficiency, is linked to activity and renal involvement and could help in their assessment. LN therapies include plasma exchange, immune adsorption, and probably hemodiafiltration with online endogenous reinfusion (HFR), together with traditional immunosuppressive therapies. Aim: The aim of this study was to evaluate the role of HFR in improving signs and symptoms of systemic lupus erythematosus (SLE) activity and laboratory parameters in cases not responding to traditional immunosuppressive therapy. Settings and design: A controlled clinical study was conducted on 60 patients with lupus from Group A that was subdivided into two groups: cases 1 (47 patients), those who received traditional medical treatment, and cases 2 (13 patients), those who underwent HFR in addition to medical treatment. Group B consisted of two subgroups: control 1, composed of 20 healthy age- and sex-matched volunteers, and control 2, consisting of 10 cases with different glomerular diseases other than lupus. Methods and materials: Serum C1q was determined before and after the HFR as well as induction by medical treatment. Disease activity was assessed using SLEDAI-2K with a responder index of 50; quality of life was assessed using SLEQOL v2, and HFR was performed for the non-responder group. Results: C1q was lower in cases. It can efficiently differentiate between SLE patients and healthy controls with a sensitivity of 81.67% and a specificity of 90%. It can also efficiently differentiate between SLE patients and the control 2 group (non-lupus patients with renal glomerular disease) with a sensitivity of 83.33% and a specificity of 100%. C1q was more consumed in proliferative lupus, and correlated with anti-ds DNA, C3, and C4. Conclusions: C1q efficiently discriminates lupus patients and correlates with proliferative forms. HFR might ameliorate lupus activity and restore C1q.

Serum midkine is a more sensitive predictor for hepatocellular carcinoma than Dickkopf-1 and alpha-L-fucosidase in cirrhotic HCV patients.

ABSTRACT: Alpha fetoprotein (AFP) level is the gold standard diagnostic tool for detection and monitoring hepatocellular carcinoma (HCC) but with low sensitivity. Thus, the identification of alternative or combined serum markers of HCC is highly needed. Therefore, the aim of this work was to verify the value of serum midkine (MDK), Dickkopf-related protein 1 (DKK1), and alpha-L-fucosidase (AFU) in detection of HCC.We recruited 244 subjects to the present study; 89 with liver cirrhosis, 86 cirrhotic hepatitis C virus (HCV) induced HCC, and 69 apparently healthy volunteers as controls. Serum AFP, MDK, DKK1, and AFU were measured by ELISA.Patients with HCC showed significantly higher serum MDK, DKK1, and AFU levels compared with those patients with liver cirrhosis and healthy controls (X2 = 179.56, 153.94, and 90.07 respectively) (P < .001 in all). In HCC cases, neither of MDK, DKK1, or AFU was correlated with tumor number. On the other hand, only serum DKK1 was significantly higher in lesions >5 cm, those with portal vein thrombosis and advanced HCC stage. Receiver operator characteristic (ROC) curve analysis showed that serum MDK levels discriminated between cirrhosis and HCC at a sensitivity of 100%, a specificity of 90% at cut-off value of >5.1 ng/mL.Although our results showed that serum MDK, DKK-1, and AFU are increased in HCC cases only MDK may be considered as the most promising serological marker for the prediction of the development of HCC in cirrhotic HCV patients.

Cognitive functions in Egyptian neuromyelitis optica spectrum disorder.

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune demyelinating disease of the central nervous system, characterized by optic neuritis and longitudinally extensive transverse myelitis. Magnetic resonance imaging abnormalities may be observed in various brain regions of NMOSD patients. Only a few studies have addressed the cognitive functions in NMOSD, but none among Egyptian patients. OBJECTIVE: To investigate cognitive performance in a cohort of 20 Egyptian patients with NMOSD. DESIGN: Observational, prospective study. PATIENTS: We studied 20 Egyptian patients with NMOSD and compared them with 18 healthy Egyptian controls matched for age, sex, and educational level. MAIN OUTCOME MEASURE: We applied an Arabic translation of MOCA and BICAMS Tests for Multiple Sclerosis. RESULTS: Cognitive performance was significantly worse in the NMOSD group than in healthy controls for CVLT (P = 0.0099), SDMT (P = 0.0112), BVSMT (P = 0.019) and BICAMS in total (P = 0.0014). Patients with a later disease onset performed worse in MOCA and BVSMT. CONCLUSIONS: This study confirms the concept of cognitive involvement in NMOSD among Egyptian patients. Information processing speed was the function most commonly impaired.

Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study.

BACKGROUND: Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive disease which is mainly seen in the Turks, Armenians, Arabs, and Jews. It is characterized by recurrent episodes of fever, polyserositis, and rash. MEFV gene, encoding pyrin protein, is located on the short arm of chromosome 16. FMF is associated with a broad mutational spectrum in this gene. Certain mutations are more common in particular ethnic groups. To date, different mutations of MEFV were observed in studies carried out in different regions worldwide. However, most of these studies did not extensively investigate the Egyptian population, in spite of the high prevalence of FMF in this geographical region. AIM: To identify the frequency of MEFV gene mutations among the patients who presented with FMF like symptoms and, to characterize the different genetic mutations and their association with increased Amyloid A among Egyptian patients. METHODS: FMF Strip Assay (Vienna Lab Diagnostics, Vienna, Austria) was used. This test is based on reverse hybridization of biotinylated PCR products on immobilized oligonucleotides for mutations and controls in a parallel array of allele-specific oligonucleotides. RESULTS: Among the 1387 patients presenting with signs and symptoms suggestive of FMF, 793 (57.2%) were of undefined mutations, whereas 594 had MEFV gene mutations. 363 patients (26.2%) were heterozygous mutants, 175 patients (12.6%) were compound heterozygous mutants, and 56 patients (4%) were homozygous mutants. The most commonly encountered gene mutations in heterozygous and homozygous groups were E148Q (38.6%), M694I (18.1%), and V726A (15.8%). The most commonly encountered gene mutations in the compound heterozygous groups were E148Q+M694I observed in 20.6% of the patients, followed by M694I+V726A and M6801+V726A found in 18.9% and 11.4 %, respectively. The most commonly encountered gene mutation associated with abdominal pain, fever, and high serum Amyloid A was E148Q allele (37.5%). CONCLUSIONS: Unlike all previous publications, E148Q allele was found to be the most frequent in the studied patients. Moreover, this allele was associated with increased Amyloid A. 793 patients were free of the 12 studied Mediterranean mutations, which implies the necessity to perform future sequencing studies to reveal other mutations.

Clinical and radiological characteristics of neuromyelitis optica spectrum disorder in the North Egyptian Nile Delta.

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune demyelinating disorder of the central nervous system that was previously thought to be a subtype of multiple sclerosis (MS). Epidemiology studies of NMOSD are rare in both Middle East and North African countries. To our knowledge, there are no such studies in Egypt. Herein, we describe a case series of NMOSD patients from North Egyptian Nile Delta region and compare them to NMOSD in other parts in the Middle East and the world. METHODS: This is a case series study of NMOSD patients who were seen at the neuroimmunology clinic, Elhadara Hospital, University of Alexandria, Egypt, from January 2017 to January 2018. We describe their clinical, serological and radiological features. RESULTS: Our study identified twenty Egyptian patients, all of who fulfilled the 2015 international NMOSD diagnostic criteria. Ten tested positive for AQP4 antibodies in the serum while the other ten were seronegative. The mean age at onset was 27.8 years with an average disease duration of 6.8 years. There was a strong female predominance with a ratio of 5.6:1. We identified clinical features of the cohort that differ from those reported in other worldwide studies. INTERPRETATION: This is the first NMOSD case series in Egypt. Despite some limitation in testing and access to care, there are features of our NMOSD cases that appear to be different from other worldwide cohorts reported in the literature.