Long-term impact of pregnancy on renal function among Egyptian women with lupus nephritis: A case control study.

Few studies tackled the long-term effect of pregnancy on lupus nephritis (LNs); thus, the study aimed to explore the long-term impact of pregnancy on renal outcomes in Egyptian patients with LN. Group I patients included females who had their first pregnancy after LN onset with ≥5 years elapsing after delivery; group II patients included females who had never got pregnant for ≥7 years after LN onset. Data were retrospectively collected at baseline (T0) and the last visit (Tlast). The study included 43 patients in group I and 39 patients in group II. The comparisons between the two groups regarding the characteristics at Tlast showed no significant difference regarding the serum creatinine, estimated glomerular filtration rate (eGFR), renal component of SLICC/ACR Damage Index (SDI) as well as the rate of renal flares, new-onset chronic kidney disease (CKD), progressed CKD and end-stage renal disease. Multivariate regression analysis revealed that systemic hypertension and renal flares were predictors of new-onset/progressed CKD (p = 0.019, OR [95% CI] = 4 [1.3-13]; and 0.022, 13.8 [1.5-128.8], respectively) while pregnancy was not (p = 0.363). Paired comparisons between T0 and Tlast characteristics within each group revealed significant increment of serum creatinine, renal SDI and CKD prevalence; as well as decrement of eGFR in group I (p = 0.004, <0.001, 0.001 and <0.001, respectively) and group II (p = 0.006, <0.001, 0.004 and 0.002, respectively). In conclusion, pregnancy, per se, does not affect the long-term renal outcome in LN patients; however, it is rather dependent on the existence of baseline renal damage and the development of renal flares.

Pregnancy outcomes among Egyptian women with systemic lupus erythematosus: A prospective cohort study.

Pregnant patients with systemic lupus erythematosus (SLE) represent a high-risk group. The aim of this study is to describe the pregnancy outcomes among SLE patients who were followed prospectively at a conjoint high-risk pregnancy/rheumatology clinic from 2007 to 2021 and to identify predictors of adverse maternal and fetal outcomes. This study included 201 singleton pregnancies of 123 women with SLE. Their mean age was 27.16 ± 4.80 years, and their mean disease duration was 7.35 ± 5.46 years. Secondary antiphospholipid syndrome (APS) was diagnosed in 77 (38.3%) pregnancies. The pregnancy was planned in 104 (51.7%) pregnancies. Flares occurred in 83 (41.3%) and pre-eclampsia in 15 (7.5%) pregnancies. Full-term pregnancy occurred in 93 (46.3%), fetal loss (miscarriage and intra-uterine fetal death) in 41 (20.4%), and prematurity in 67 (33.3%) of the pregnancies, respectively. Seven neonates died from complications of prematurity, and another one died from cardiac congenital anomalies. In the multivariate analyses, unplanned pregnancy was associated with eight times higher risk of disease flare OR = 7.92 (p < 0.001), lupus nephritis flare during pregnancy increased the odds of pre-eclampsia occurrence four times OR = 3.98 (p = 0.02), while disease flares during pregnancy predicted prematurity OR = 2.49, p = 0.049. Patients with secondary APS had three times increased risk of fetal loss OR = 2.97, p = 0.049. To conclude, unplanned pregnancy, disease flares, and APS have been identified as predictors for adverse maternal and/or fetal outcomes. Pregnancy planning is necessary to reduce maternal and fetal complications.

Sexual dysfunction in Egyptian females with systemic lupus erythematosus: a cross sectional study.

OBJECTIVES: Sexual dysfunction in systemic lupus erythematous (SLE) patients is an important issue to be tackled. We aimed to study the prevalence of sexual dysfunction in SLE women and detect its association with depression, functional disability and quality of life. METHODS: This study included 94 SLE females. Ninety-eight control females agreed to participate. Patients and controls answered a written form of the Arabic version of the Female Sexual Function Index (FSFI), Beck Depression Inventory (BDI), Health Assessment Questionnaire-Disability Index (HAQ-DI) and Short Form 36 (SF-36). Disease activity and damage were assessed using the SLE Disease Activity Index and the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index. RESULTS: The frequency of sexual dysfunction was similar in the patients and control groups (77.7% versus 82.7%) while the BDI, HAQ-DI and SF-36 scores were significantly worse in SLE patients. SLE patients with and without sexual dysfunction differed in neither disease characteristics nor disease activity and damage indices. The FSFI showed a strong positive correlation with SF-36, and strong inverse correlations with BDI and HAQ-DI in the patients group while it had a weaker positive correlation with SF-36 and no correlations with the other two indices in the control group. CONCLUSION: No significant difference was found in the prevalence of sexual dysfunction between SLE patients and controls. Sexual dysfunction in SLE patients is mostly related to depression, poor functional status, increased pain, poor health perception and bad quality of life. Neither disease activity nor damage contributes significantly to sexual dysfunction in lupus females.

Does three-dimensional transesophageal echocardiography provide incremental value in percutaneous closure of ascending aortic pseudoaneurysm?

Ascending aortic pseudoaneurysms (AO PSAs), if left untreated, are complicated by a high rate of rupture resulting in significant morbidity and mortality. New transcatheter modalities have emerged as acceptable surgical alternatives for their management. We present a case of an ascending aortic PSA in which intraoperative two- and three-dimensional transesophageal echocardiography (2DTEE and 3DTEE) provided a comprehensive assessment of the PSA in pre- and postclosure settings.

Insight into the Epidemiology of the Adult-onset Systemic Autoimmune Rheumatic Diseases in Egypt: A Descriptive Study of 8690 Patients.

BACKGROUND/OBJECTIVE: Although systemic autoimmune rheumatic diseases (SARDs) seem to be ubiquitous, Africa and the Middle East seem to be a remarkable exception with scarcity of data compared with the developed countries. Furthermore, most of the studies addressed a particular disease. This work aimed to shed light on the relative frequency and epidemiology of the different adult-onset SARDs in Egypt. METHODS: This is a retrospective hospital-based study including six university hospitals providing free health care services: Cairo, Alexandria, Tanta, Suez Canal, Beni-Suef and Assiut University Hospitals. All available files for patients attending the outpatient clinics or admitted to the inpatient departments between January 2000 and December 2021 were retrospectively reviewed. Data about the patient's diagnosis, gender, age at disease onset, year of disease onset and residence were collected. RESULTS: The study included 8690 patients. Rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Behçet's disease (BD) and spondyloarthropathies (SPA) represented the main SARDs in Egypt. They mainly affect young patients below the age of 40 years. RA and SLE mainly affect females; males are mainly affected by axial SPA and BD. There is an increasing incidence of SARDs during the study period. CONCLUSION: The study revealed the high burden of SARDs in Egypt, helping better allocation of economic resources for the management of diseases of the highest prevalence and those affecting the young reproductive age groups. Increased public and medical staff awareness about SARDs is recommended to help early referral of patients to rheumatologists and, hence, better estimation of their epidemiology.

Protein tyrosine phosphatase non-receptor type 2 (PTPN2) gene polymorphisms (rs2542151, rs7234029) in Egyptian Behçet's disease patients: a preliminary report.

Single nucleotide polymorphisms (SNPs) of the protein tyrosine phosphatase non-receptor type 2 (PTPN2) gene have been documented to be linked with several autoimmune disorders including Behçet's disease (BD). PTPN2 SNPs rs2542151 and rs7234029 have been assessed using real-time PCR in 96 BD patients and 50 controls matched by age and gender. Patients were categorized into groups according to the disease phenotypes and severity. A total of 94.8% of patients were males. The patients' mean age at onset was 26.1 ± 8 years. The median (IQR) disease duration was 8.5(4-13) years. No difference was observed between the patients and controls concerning the frequency of the two SNPs' different genotypes, models, and alleles. Moreover, neither disease phenotypes nor severity were associated with rs2542151 or rs7234029 SNPs. PTPN2 rs2542151 and rs7234029 SNPs do not seem to have associations with BD occurrence, phenotypes, or severity in the Egyptian patients. Key Points • PTPN2 rs2542151 and rs7234029 SNPs do not seem to have associations with BD occurrence, phenotypes, or severity in the Egyptian patients. • Further studies involving a larger sample size with variable clinical diversity are recommended to verify the results.

Sustained dialysis with misplaced peritoneal dialysis catheter outside peritoneum: A case report.

BACKGROUND: In patients undergoing peritoneal dialysis (PD), catheter dysfunction is a common complication. A misplaced catheter is one of the reasons contributing to its dysfunction. The present study aimed to describe a case of misplaced PD catheter with an unusual location of the catheter tip. CASE SUMMARY: A 61-year-old man undergoing PD for 4 years was investigated for progressive nausea and fatigue of 3 mo. Dialysis adequacy studies indicated inefficient dialysis. Imaging discovered that the PD catheter tip was mispositioned in the pelvic cavity with its tip outside the peritoneal cavity. Despite the dialysate accumulating outside the peritoneal cavity, the patient had not developed perineal or scrotal edema. The patient had experienced a sustainable prolonged dialysis efficacy in this case until the renal function deteriorated further in view of the poor dialysis outcome and worsening health condition. The patient was subsequently transitioned to hemodialysis. CONCLUSION: Proper placement of the catheter in the peritoneal cavity should always be confirmed and re-checked when necessary in patients undergoing PD to ensure dialytic adequacy.

Behçet's disease phenotypes and clinical outcomes: A cohort study in egyptian patients.

INTRODUCTION: Behçet's disease (BD) is a systemic inflammatory disease with various presentations. The data on the course of BD in Egyptian patients are limited. OBJECTIVES: The objective of the study was to describe the evolution and association of the different phenotypes of BD. MATERIAL AND METHODS: This chronological cohort study included adult Egyptian patients suffering from BD. Demographic data and the chronological order of the disease's manifestations were collected. RESULTS: The study included 233 patients. Their mean age at the onset of the disease was 26.3±6.9 years. The mean duration from onset of the disease to meeting the criteria was 11.2±30.3 months. The mean duration of the disease was 96.8±72.2 months. On onset of the disease, the most common phenotypes were mucocutaneous (84.5%), musculoskeletal (15.9%), ocular (14.6%) and peripheral venous disease (PVD) (7.3%); on the other hand, pulmonary, peripheral arterial and great vessel phenotypes evolved several years after onset of the disease. The mean time from meeting the criteria to the evolution of a new phenotype was 53.8±58.7 months. Associations between the different phenotypes were observed: PVD and superficial thrombophlebitis, peripheral arterial disease and PVD; another association was also observed between aortic involvement and cerebrovascular disease. CONCLUSION: BD could continue to evolve several years after onset of the disease, making the previous belief about BD yield questionable. BD tends to respect the anatomy of the affected system. Some phenotypes tend to coexist, suggesting a shared aethiopathogeny and that the disease is of a systemic nature.

Retrieval of fractured dialysis catheter through phlebotomy of internal jugular vein: a case report.

A central venous catheter is the most common access for initiating hemodialysis. Prolonged access through a central venous catheter increases the risk of infection and dysfunction of the catheter with potential development of catheter-induced thrombosis and embolism. However, fracture and dislodgement of the catheter with subsequent embolization is an unexpected complication. Endovascular treatment is a promising method to remove intravascular foreign bodies. We herein report a case of a 58-year-old woman undergoing prolonged hemodialysis who required central venous catheter removal because of mechanical fracture of the tunneled cuffed catheter and its migration in the internal jugular vein. An urgent chest X-ray showed that the two free ends of the fractured tunneled cuffed catheter were located in the right atrium and right internal jugular vein. Phlebotomy of the internal jugular vein was successfully performed to retrieve the fractured tunneled cuffed catheter and the associated thrombi. In this case, phlebotomy for retrieval of the embolized catheter fragment extending into the right atrium was a safe alternative to an endovascular technique of catheter fragment retrieval. Phlebotomy preserved the integrity of the catheter fragment and its associated thrombus and was both cost-effective and safe.

Influence of glutathione S transferase A1 gene polymorphism (-69C > T, rs3957356) on intravenous cyclophosphamide efficacy and side effects: a case-control study in Egyptian patients with lupus nephritis.

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.

TERT Genotype Polymorphism: A Glance of Change Egyptian MDS Outcomes.

BACKGROUND: Myelodysplastic Syndromes (MDS)are clonal hematologic disorders characterized by genetic instability and ineffective hematopoiesis associated with telomere dysfunction. We aimed at investigating the association between the rs2242652 single nucleotide variant of the TERT gene and susceptibility for MDS, as well as its prognostic impact and relation to disease phenotype. METHODS: Genotyping analysis was carried on 100 MDS patients recruited at Mansoura Oncology center, in addition to 100 healthy subjects for detection of rs2242652 variant of TERT gene on chromosome 5 by real time PCR following the protocol of Custom TaqMan® SNP Genotyping. RESULTS: The rs2242652 TERT genetic polymorphism was associated with an increased risk of MDS (odds ratios 2.6 for genotype GA, 6.4 for genotype AA). The majority of AA homozygous mutant variant were associated pancytopenia (88%), poor risk cytogenetics (92%) and High/very high IPSS-R score (88%). At the end of follow-up (median 30 months), 14% of the cases transformed to secondary AML. The rate of leukemic transformation was significantly associated with the mutant AA genotype (93% of transformed cases, 52% of AA genotype cases; p < 0.0001). Survival outcome was inferior in AA mutant genotype (median 14 months, 95% CI: 12-16 months) to the GA genotype (median 30 months, 95% CI: 26-33 months) and those of the GG genotype (median not reached), p.

Autoimmune Regulator Gene Polymorphisms in Egyptian Systemic Lupus Erythematosus Patients: Preliminary Results.

BACKGROUND: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease. The autoimmune regulator (AIRE) is a master regulator of self-tolerance development. AIRE mutations lead to the development of autoimmune polyglandular syndrome type 1 while AIRE polymorphisms have been linked to organ-specific autoimmunity. The study is aimed at addressing the association between AIRE polymorphisms, rs2075876 (G > A) and rs760426 (A > G), and SLE susceptibility and expression in Egyptian patients. METHODS: Ninety-nine patients were included. One hundred and ten, and 123 control subjects were genotyped for rs2075876 and rs760426, respectively. Lupus severity was assessed using the Lupus Severity of Disease Index and Lupus Severity Index (LSI). Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) damage index was considered. Genotyping was done using StepOne Real-Time PCR. Results. AIRE rs760426 GG was more frequent in the patients under the genotype level (14.1% vs. 4.9%, p = 0.032) and recessive model (14.1% vs. 4.9%, p = 0.017, OR = 3.2 (1.2-8.7)). Musculoskeletal involvement and nephritis were associated with AIRE rs2075876 under the dominant (97.9% vs. 80.8%, p = 0.009, OR = 11 (1.3-89.2)) and recessive models (100% vs. 69.3%, p = 0.032), respectively; and both were linked to AIRE rs2075876 at the allelic level: 98.3% vs. 85%, p = 0.005, OR = 10.1 (1.3-76.6) and 82.8% vs. 68.6, p = 0.041, OR = 2.2 (1-4.7), respectively. Patients with AIRE rs2075876 A alleles had a higher damage index ( 1 ± 1.3 vs. 0.6 ± 1.1, p = 0.045) while the LSI was greater in patients with AIRE rs2075876 (8.5 ± 0.5 vs. 7.8 ± 1.3, p = 0.002) and rs760426 (8.6 ± 11 vs. 7.8 ± 1.2, p = 0.031) under the recessive models. Conclusion. AIRE rs760426 could share in SLE susceptibility while AIRE rs2075876 could influence the disease expression and burden in Egyptian patients.

Widespread Necrotizing Purpura and Lucio Phenomenon as the First Diagnostic Presentation of Diffuse Nonnodular Lepromatous Leprosy.

Lucio phenomenon, or Lucio leprosy, is a rare severe lepra reaction that develops exclusively in patients with diffuse nonnodular lepromatous leprosy. It is characterized by irregular, angulated, or stellar necrotizing purpuric lesions that develop ulcerations. It mainly involves the extremities and develops as a result of massive invasion of vascular endothelial cells with lepra bacilli and secondary thrombotic vascular occlusion. Antiphospholipid antibodies often are detected in cases of Lucio phenomenon, and they are thought to play a role in its pathogenesis. We report a case of diffuse lepromatous leprosy in Egypt in which Lucio phenomenon with scrotal involvement and positive antiphospholipid antibodies was the first diagnostic presentation. The patient showed an excellent response to a combination of antileprotic treatment, low dose of prednisolone, acetylsalicylic acid, and anticoagulants. In addition, surgical debridement and vacuum therapy were performed for the scrotal lesion. Awareness of this grave presentation of leprosy is important for both dermatologists and rheumatologists to avoid misdiagnosis as vasculitis/collagen disease.

Behçet's Disease Phenotypes and Clinical Outcomes: A Cohort Study in Egyptian Patients.

INTRODUCTION: Behçet's disease (BD) is a systemic inflammatory disease with various presentations. The data on the course of BD in Egyptian patients are limited. OBJECTIVES: The objective of the study was to describe the evolution and association of the different phenotypes of BD. MATERIAL AND METHODS: This chronological cohort study included adult Egyptian patients suffering from BD. Demographic data and the chronological order of the disease's manifestations were collected. RESULTS: The study included 233 patients. Their mean age at the onset of the disease was 26.3±6.9 years. The mean duration from onset of the disease to meeting the criteria was 11.2±30.3 months. The mean duration of the disease was 96.8±72.2 months. On onset of the disease, the most common phenotypes were mucocutaneous (84.5%), musculoskeletal (15.9%), ocular (14.6%) and peripheral venous disease (PVD) (7.3%); on the other hand, pulmonary, peripheral arterial and great vessel phenotypes evolved several years after onset of the disease. The mean time from meeting the criteria to the evolution of a new phenotype was 53.8±58.7 months. Associations between the different phenotypes were observed: PVD and superficial thrombophlebitis, peripheral arterial disease and PVD; another association was also observed between aortic involvement and cerebrovascular disease. CONCLUSION: BD could continue to evolve several years after onset of the disease, making the previous belief about BD yield questionable. BD tends to respect the anatomy of the affected system. Some phenotypes tend to coexist, suggesting a shared aethiopathogeny and that the disease is of a systemic nature.

Case of aggressive metastatic follicular variant papillary thyroid carcinoma with BRAF K601E and BCORL1 mutations.

BCL6 corepressor like-1 (BCORL1) mutation has rarely been described in thyroid cancer or in association with BRAF mutations in any malignancy. However, we report a 49-year-old woman who had aggressive follicular variant papillary thyroid carcinoma (FV-PTC) with both the BRAF K601E and BCORL1 mutations. The patient underwent a total thyroidectomy for a 3.6 cm right thyroid nodule and a smaller lesion in the left lobe in 2007; both were FV-PTCs with no lymphovascular invasion or metastases. In 2015, a positron emission tomography-CT scan showed a small defect in the left posterior lateral fifth rib with mild increased hypermetabolic activity with standardised uptake value of 3.9 and another lesion in the right hip at the junction of the femoral neck and trochanter. Tumour biopsy and genetic analysis revealed an uncommon BRAF K601E and a rare BCORL1 mutation. While rare, we report a case of aggressive FV-PTC with both the BRAF K601E and BCORL1 mutations.

Impact of Bone Marrow Natural Killer Cells (NK); Soluble TNF-α and IL-32 Levels in Myelodysplastic Syndrome Patients.

BACKGROUND: Myelodysplastic syndromes (MDS) are complex clonal hemopoietic progenitor cell disorders that result from the evolution of aberrant clones which lead to leukemia. Disorders of the immune system serve important functions in the pathophysiology and progression of this disorder. This study aimed to assess the bone marrow natural killer cells percentage as well as soluble TNF-α and sIL-32 concentration levels in MDS patients. METHODS: Bone marrow samples were obtained from 34 MDS; 12 MDS-AML and 10 controls. The percentage of total NK cells and mature NK cells were determined by flowcytometry. Bone Marrow soluble TNF-α and sIL-32 concentration levels were measured by ELISA. RESULTS: The percentage of total NK and mature NK cells were significantly lower in MDS patients as compared to controls (p.

Shedding light on vasculitis in Egypt: a multicenter retrospective cohort study of characteristics, management, and outcome.

OBJECTIVES: The frequency of different vasculitides and their characteristics vary among different regions. The identification of geographic disparities of disease phenotypes helps the development of international criteria, allowing the classification of patients of different ethnicities. This study aimed to describe the frequency, characteristics, course, response to treatment, and outcome of the different adulthood vasculitides in Egypt. METHODS: This was a multicenter study in which the medical records of adult Egyptian patients diagnosed with vasculitis between 2002 and 2018 were retrospectively reviewed. RESULTS: The most frequent vasculitides in Egypt were Behçet's disease (76%), hepatitis C virus vasculitis (13.9%), and granulomatosis with polyangiitis (3.9%). Most patients (73.8%) had a major event at the time of diagnosis. Generalized granulomatosis with polyangiitis was more common than the localized type (90% versus 10%, respectively). The aortic arch and its branches were the most common affected sites of Takayasu arteritis. Of vasculitides, Behçet's disease and giant cell arteritis were associated with the greatest rates of relapse (62.7% and 33.3%, respectively). Delayed diagnosis and permanent organ damage were reported in 69.9% and 68.9% of patients, respectively. A low mortality rate was noted (1.3%). CONCLUSIONS: The most common types of adulthood vasculitides in Egypt are Behçet's disease, hepatitis C virus vasculitis, and granulomatosis with polyangiitis. Major organ involvement is frequent. Delayed diagnosis and permanent organ damage are common.

Developmental Dysplasia of Hip: Perspectives in Genetic Screening.

Development dysplasia of the hip (DDH) is a complex developmental disorder despite being a relatively common condition mainly caused by incompatibility of the femoral head and the abnormal joint socket. Development dysplasia of the hip describes a wide spectrum of disorders ranging from minor acetabular dysplasia to irreducible dislocation of the hip. Modern medicine still suffers from lack of information about screening and precise genetic examination. Genome wide linkage and association studies have brought significant progress to DDH diagnosis. Association studies managed to identify many candidate (susceptible) genes, such as PAPPA2, COL2A1, HOXD9, GDF-5, and TGFB1, which play a considerable role in the pathogenesis of DDH. Early detection of DDH has a big chance to help in preventing further disability and improve the psychological health and quality of life in those children. This emphasizes the importance to establish a universal screening program along with the genetic counseling.

Erratum: Outcomes of fluoroscopic and ultrasound-guided placement versus laparoscopic placement of peritoneal dialysis catheters.

[This corrects the article DOI: 10.1093/ckj/sfx132.].