A Case Report of Childhood Systemic Lupus Erythematosus Complicated With Bronchiectasis

Systemic lupus erythematosus (SLE) is one of the chronic autoimmune diseases affecting the internal organs. Most studies of childhood lupus showed respiratory manifestations in 30% to 50% of cases. Bronchiectasis involves the lung rarely in SLE, specially in children. In a cross-sectional study on 60 Norwegian adults of childhood-onset SLE, only 1 patient (<2%) showed bronchiectasis in high-resolution computed tomography (HRCT) scan without any symptoms of bronchiectasis. Our patient was a girl aged 14 years old who was referred to our center with manifestations of arthritis, cough, pleural effusion, malar rash, photosensitivity, convulsion, anemia, positive ANA, and high titer anti-dsDNA. After 3 years, she was admitted for productive cough. HRCT scan was done, showing bilateral bronchiectasis. The purpose of this presentation was to report bronchiectasis as a rare pulmonary manifestations of SLE in young patient

Global systematic review of primary immunodeficiency registries

Introduction During the last 4 decades, registration of patients with primary immunodeficiencies (PID) has played an essential role in different aspects of these diseases worldwide including epidemiological indexes, policymaking, quality controls of care/life, facilitation of genetic studies and clinical trials as well as improving our understanding about the natural history of the disease and the immune system function. However, due to the limitation of sustainable resources supporting these registries, inconsistency in diagnostic criteria and lack of molecular diagnosis as well as difficulties in the documentation and designing any universal platform, the global perspective of these diseases remains unclear. Areas covered Published and unpublished studies from January 1981 to June 2020 were systematically reviewed on PubMed, Web of Science and Scopus. Additionally, the reference list of all studies was hand-searched for additional studies. This effort identified a total of 104614 registered patients and suggests identification of at least 10590 additional PID patients, mainly from countries located in Asia and Africa. Molecular defects in genes known to cause PID were identified and reported in 13852 (13.2% of all registered) patients. Expert opinion Although these data suggest some progress in the identification and documentation of PID patients worldwide, achieving the basic requirement for the global PID burden estimation and registration of undiagnosed patients will require more reinforcement of the progress, involving both improved diagnostic facilities and neonatal screening.Peer reviewe

The skin prick test results to saffron, sumac and barberry in patients with atopy

Background: Food allergens appear to play a role in the etiology and deteriorating of atopy in some patients, little is known about hypersensitivity to some common food additives in these patients. The purpose of this study was to identify probable sensitization to saffron, sumac and barberry in patients with atopy.Materials and Methods: This cross- sectional study included 390 patients with atopy and 300 healthy individuals with no history of atopic diseases. Skin tests were performed in both patient and control group with saffron, sumac and barberry.</p

Direct Proportional Relationship between Histopathologic and Sonographic Analysis of Laparoscopic Removal Ovarian Endometriotic Cyst: Evaluating the Effects on Ovarian Reserve

Background: The aim of this study was to evaluate ovarian damage following laparoscopic endometrioma cystectomy using ultrasound and pathologic samples.&nbsp;Materials and Methods: This is a prospective cohort study in General Women Hospital affiliated to Tehran University of Medical Sciences. 40 patients with endometrioma, total of 44 cysts including bilateral cysts, underwent laparoscopic cystectomy with stripping technique. Amount of excised parenchyma, number of lost oocytes and cyst wall fibrosis thickness were histologically studied. Before and 3 months after surgery antral follicle count was evaluated by ultrasound.Results: Mean antral follicle count (AFC) before the operation was 4 ± 1.29 and after operation was1.64 ± 1.03. The reduction in AFC after cystectomy was statistically significant (P &lt;0.000), and with each 1 centimeter increase in cyst diameter a reduction of AFC averaging 0.421 was observed. On pathological examination, it was shown that every millimeter of inadvertently excised ovarian tissue and cyst wall fibrosis thickness leads to reduction of 1.06 and 1.2 in AFC respectively.&nbsp;Conclusion: Laparoscopic cystectomy for endometrioma is associated with reduction in ovarian reserve and this reduces proportionally with cyst diameter, amount of normal ovarian parenchyma excised and cyst wall fibrosis.&nbsp;</p

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Background: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses. Objective: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings. Methods: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID. Results: Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. Clinical disease severity was significantly higher in patients with μ heavy chain and CD40 ligand mutations compared with patients with BTK (P = .003) and activation-induced cytidine deaminase (P = .009) mutations. Paralysis following live polio vaccination was considerably higher in patients with μ heavy chain deficiency compared with BTK deficiency (P < .001). We found a genotype-phenotype correlation among patients with BTK mutations regarding clinical manifestation of meningitis and chronic diarrhea. Surprisingly, we noticed that first presentations in most patients with Immunodeficiency, Centromeric instability, and Facial dysmorphism were respiratory complications (P = .008), whereas first presentations in patients with lipopolysaccharides-responsive beige-like anchor deficiency were nonrespiratory complications (P = .008). Conclusions: This study highlights similarities and differences in the clinical and genetic spectrum of the most common PAD-associated gene defects. This comprehensive comparison will facilitate clinical decision making, and improve prognosis and targeted treatment