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1.
Immunogenetics ; 76(3): 189-202, 2024 Jun.
Article En | MEDLINE | ID: mdl-38683392

Hypogammaglobulinemia without B-cells is a subgroup of inborn errors of immunity (IEI) which is characterized by a significant decline in all serum immunoglobulin isotypes, coupled with a pronounced reduction or absence of B-cells. Approximately 80 to 90% of individuals exhibit genetic variations in Bruton's agammaglobulinemia tyrosine kinase (BTK), whereas a minority of cases, around 5-10%, are autosomal recessive agammaglobulinemia (ARA). Very few cases are grouped into distinct subcategories. We evaluated phenotypically and genetically 27 patients from 13 distinct families with hypogammaglobinemia and no B-cells. Genetic analysis was performed via whole-exome and Sanger sequencing. The most prevalent genetic cause was mutations in BTK. Three novel mutations in the BTK gene include c.115 T > C (p. Tyr39His), c.685-686insTTAC (p.Asn229llefs5), and c.163delT (p.Ser55GlnfsTer2). Our three ARA patients include a novel homozygous stop-gain mutation in the immunoglobulin heavy constant Mu chain (IGHM) gene, a novel frameshift mutation of the B-cell antigen receptor complex-associated protein (CD79A) gene, a novel bi-allelic stop-gain mutation in the transcription factor 3 (TCF3) gene. Three patients with agammaglobulinemia have an autosomal dominant inheritance pattern, which includes a missense variant in PIK3CD, a novel missense variant in PIK3R1 and a homozygous silent mutation in the phosphoinositide-3-kinase regulatory subunit (RASGRP1) gene. This study broadens the genetic spectrum of hypogammaglobulinemia without B-cells and presented a few novel variants within the Iranian community, which may also have implications in other Middle Eastern populations. Notably, disease control was better in the second affected family member in families with multiple cases.


Agammaglobulinaemia Tyrosine Kinase , Agammaglobulinemia , B-Lymphocytes , Mutation , Registries , Humans , Agammaglobulinemia/genetics , Agammaglobulinemia/immunology , Male , B-Lymphocytes/immunology , Female , Agammaglobulinaemia Tyrosine Kinase/genetics , Child , Child, Preschool , Adolescent , Infant , Pedigree , Class Ia Phosphatidylinositol 3-Kinase
2.
Infez Med ; 32(1): 1-11, 2024.
Article En | MEDLINE | ID: mdl-38456019

Takotsubo cardiomyopathy (TTC) is a severe, acute, reversible, and self-limited cardiac dysfunction. It usually affects postmenopausal women and is mostly triggered by physical or emotional stressors. Following the COVID-19 pandemic, millions of doses of different types of COVID-19 vaccines are being administered globally. There have been reports of different cardiac complications after receiving COVID-19 vaccines. To our knowledge, there have been 16 reported cases of COVID-19 vaccination-associated TTC. In this study, we first provide a brief overview of TTC and then an overview of selected reported TTC cases following COVID-19 vaccinations. It is crucial to highlight that the occurrence of TTC after vaccination does not establish a direct cause-and-effect relationship between immunization and TTC. Further investigations are necessary to examine any potential association between COVID-19 vaccines and the incidence of TTC. Additionally, the benefits of receiving COVID-19 vaccines significantly outweigh the potential risks of developing adverse events.

3.
Neurol Int ; 16(1): 162-185, 2024 Jan 12.
Article En | MEDLINE | ID: mdl-38251058

Cavernous angiomas (CAs) are benign vascular malformations predominantly seen in the brain parenchyma and therefore referred to as intra-axial. Extra-axial dural-based cavernous angiomas, on the other hand, are rare vascular lesions found outside of the brain parenchyma. They occur in the middle fossa and may be easily misdiagnosed as meningiomas due to their extra-axial location. In addition, CAs that are located outside the middle fossa, such as in the convexity, have a better prognosis since they are more surgically accessible. Surgical resection is the main treatment of choice in CAs. However, other options, such as embolization and radiotherapy, may also be considered therapeutic choices or additive treatment options. The pathogenesis of CA and the involvement of other factors (genetics or environmental factors) are still unknown and require further investigation. We are presenting a young man who presented for evaluation of seizure-like events without any family history of neurologic conditions. The physical examination was unremarkable except for a slightly antalgic gait. Imaging studies showed an extra-axial left tentorial mass suggestive of a meningioma, hemangiopericytoma, or other extra-axial lesions. The lesion was resected where its vascular nature was mentioned initially, and the histology proved the diagnosis of cavernous angioma. Here we give an overview of the known pathogenesis, causes, clinical features, and diagnostic and therapeutic options in CA. Better knowledge about CA, its causes, clinical features, and treatment options would help clinicians in early diagnosis and patient management.

4.
Sultan Qaboos Univ Med J ; 23(3): 411-414, 2023 Aug.
Article En | MEDLINE | ID: mdl-37655079

Infection with the SARS-CoV-2 virus causes coronavirus disease 2019 (COVID-19). COVID-19 usually affects the lungs but may also involve other organs such as the heart. We report a case of a para-cardiac mass in a previously healthy 45-year-old male who developed persistent dyspnea following SARS-CoV-2 infection. The patient underwent cardiac surgery since the mass was attached to the pericardium and was causing constrictive pericarditis. The pathology report indicated an inflammatory pattern for the mass. Based on the authors' knowledge there has been no previous report of developing a para-cardiac inflammatory mass after SARS-CoV-2 infection. This report aimed to increase awareness regarding the possibility of developing a para-cardiac inflammatory mass following COVID-19.

5.
Asian Pac J Cancer Prev ; 24(9): 3125-3131, 2023 09 01.
Article En | MEDLINE | ID: mdl-37774064

OBJECTIVES: The aim of this study was to investigate the association between the overexpression of tumor protein (P53), cytokeratin 20 (CK20), fibroblast growth factor receptor 3 (FGFR3), biomarkers and the grading, prognosis, heterogeneity, and relapse tendency of urothelial cell carcinomas (UCCs) of the bladder. METHODS: A cross-sectional study was conducted using 413 samples of Iranian patients diagnosed with UCC of the bladder. The tissue microarray technique was used to evaluate the patterns of tumor tissue. Two pathologists scored tissue staining using a semi-quantitative scoring system. RESULTS: The results showed that P53 was a predictor of a high-grade pattern (the area under the curve (AUC)=0.620) with a best cut-off value of 95.0 using the receiver operating characteristic (ROC) curve. CK20 was another predictor of a high-grade pattern (AUC=0.745) with a best cut-off value of 15. However, the overexpression of both biomarkers was not associated with a heterogeneous pattern and could not predict tumor-associated death or relapse. The heterogeneous (odds ratio (OR)=4.535, p-value=0.001) and non-papillary (OR= 6.363, p-value= 0.001) patterns were effective predictors of tumor recurrence among all baseline variables, including patient and tumor characteristics. FGFR3 was positive in all specimens and was not a valuable biomarker for differentiating patterns. None of the variables predicted tumor prognosis. CONCLUSION: The study findings indicate that the intensity and percentage of cell staining for P53 and CK20 in the UCC of the bladder can aid in differentiating the grading patterns. The tendency of tumor relapse can be predicted by demonstrating heterogeneous and non-papillary patterns.


Carcinoma, Transitional Cell , Urinary Bladder Neoplasms , Humans , Biomarkers, Tumor/metabolism , Carcinoma, Transitional Cell/metabolism , Cross-Sectional Studies , Iran , Neoplasm Recurrence, Local/pathology , Receptor, Fibroblast Growth Factor, Type 3/genetics , Receptor, Fibroblast Growth Factor, Type 3/metabolism , Tumor Suppressor Protein p53/genetics , Tumor Suppressor Protein p53/metabolism , Urinary Bladder/metabolism , Urinary Bladder Neoplasms/pathology
6.
Reumatologia ; 61(1): 45-54, 2023.
Article En | MEDLINE | ID: mdl-36998575

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the ADA2 gene. Deficiency of adenosine deaminase 2 involves small- and medium-sized vessels and its clinical presentations include polyarteritis nodosa (PAN)-like features such as livedoid rash, early-onset stroke, hypogammaglobulinemia, hematological abnormalities, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial as the clinical features could be potentially life-threatening but might be treatable. The first-line treatment of choice in DADA2 is tumor necrosis factor α inhibitors. We aimed to provide an overview of the known pathophysiology, clinical presentations, diagnosis, and treatment of DADA2. A clearer knowledge of DADA2 may help to better diagnose, manage, and improve the clinical outcome of DADA2 patients. However, further studies are required to investigate the genotype-phenotype associations and exact pathophysiology of DADA2.

7.
J Oncol Pharm Pract ; 29(4): 885-892, 2023 Jun.
Article En | MEDLINE | ID: mdl-35289220

INTRODUCTION: Childhood cancers are usually treated with chemotherapy and radiation. Therefore, understanding the late side effects of such treatments is important to improve the quality of life in childhood cancer survivors. The present study aimed to investigate the late complications of treatments in childhood cancer survivors. METHODS: This study is a retrospective descriptive study. A total number of 93 cases were enrolled in this study. These cases had a history of childhood cancer documented in their medical records at the Shafa Hospital, Ahvaz, Iran. The age range was 5.9-21.3 years and included 62 males and 31 female patients. RESULTS: Many of the patients at this hospital with childhood cancer had experienced chemotherapy side effects as well as late effects of cancer therapy. Hypothyroidism is a late complication of therapy in thoracic cancers and head/neck tumors with relative frequencies of 23.1% and 12.5%, respectively. Scoliosis was observed in the patients undergoing the ABVD + COPP and 8/1 regimens with relative frequencies of 4% and 50%, respectively. Lower growth percentiles were also late side effects of cancer therapy. The highest relative frequency of growth retardation was observed in the <5 age group (46.7%). Restrictive lung changes had an overall relative frequency of 6.5% in male patients with all types of tumors. Sensorineural hearing loss was observed in patients with leukemia and Hodgkin lymphoma with relative frequencies of 8.7% and 24.0, respectively. CONCLUSION: The occurrence of most side effects could be decreased through early diagnosis, dose adjustment of some drugs, and preventative measures.


Cancer Survivors , Hodgkin Disease , Neoplasms , Humans , Child , Male , Female , Child, Preschool , Adolescent , Young Adult , Adult , Neoplasms/drug therapy , Neoplasms/epidemiology , Retrospective Studies , Quality of Life , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Hodgkin Disease/drug therapy , Bleomycin/therapeutic use , Dacarbazine , Doxorubicin/therapeutic use , Vinblastine
8.
Ir J Med Sci ; 192(1): 277-283, 2023 Feb.
Article En | MEDLINE | ID: mdl-35389161

OBJECTIVE: Bronchiectasis is usually caused by recurrent bacterial infections and is characterized by irreversible dilation of the bronchi. In this study, we aimed to give an overview of the genetic backgrounds of patients with non-cystic fibrosis bronchiectasis (NCFB) that have been suspected to an underlying ciliary dysfunction or inborn error of immunity (IEI). METHOD: This is a retrospective cross-sectional study. Seventy-one NCFB patients who were referred to the Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran, from 1996 to 2020 were included. These patients were referred to this center for immunological and genetic evaluation. Genetic analysis with whole-exome sequencing and Sanger sequencing was confirmed in 30 patients. However, the genetic evaluations of 41 patients were either still under evaluation or the patients had refused to be genetically evaluated. RESULT: Thirty-eight of our 71 patients (53.52%) were diagnosed with ciliary dysfunction and the detected mutations included mutations in the CCDC65, DNAH11, RSPH1, CCDC40, and GAS8 genes as well as a novel mutation. Thirty-three patients (46.47%) had an IEI and the detected mutations included mutations of the following genes: TNFRSF13B, PTPN2, ZNF341 BTK, TCF3, CD79a, PIK3CD, JAGN1, WAS, RFXANK, STK4, GSDMD, and NEMO. CONCLUSION: This study presents an overview of the underlying ciliary and immune dysfunctions and their genetic mutations in NCFB in a highly consanguine population. This would give us a better understanding of the etiologies and the known and novel genetic mutations in NCFB in Iran and, in turn, in the Middle East and North Africa (MENA) region.


Bronchiectasis , Cystic Fibrosis , Humans , Retrospective Studies , Iran , Cross-Sectional Studies , Bronchiectasis/genetics , Bronchiectasis/diagnosis , Bronchiectasis/epidemiology , Cystic Fibrosis/complications , Fibrosis , Genetic Background , Protein Serine-Threonine Kinases , Intracellular Signaling Peptides and Proteins , DNA-Binding Proteins
9.
Rev. senol. patol. mamar. (Ed. impr.) ; 35(4): 330-333, oct.-dic. 2022. ilus
Article En | IBECS | ID: ibc-211078

Paraneoplastic neurological disorder (PND) is a rare complication of cancers. We report a 25-year-old woman presenting with generalized tonic–clonic seizure one week after vaginal delivery. No underlying etiology for the seizure was detected on initial evaluation. On re-evaluation three months later, an invasive breast carcinoma with the diagnosis of infiltrating ductal carcinoma (IDC) was revealed. To our knowledge, this is the first case report of PND that presented with generalized tonic–clonic seizure, decreased visual acuity, and acute loss of consciousness. This study briefly outlines PND and its association with breast tumors. In addition, it highlights the importance of high clinical suspicion to detect PND. (AU)


El trastorno neurológico paraneoplásico (PND) es una complicación poco común de los cánceres. Presentamos una mujer de 25 años con convulsión tónico-clónica generalizada una semana después del parto vaginal. No se detectó una etiología subyacente de la convulsión en la evaluación inicial. En la reevaluación tres meses después, se diagnosticó un carcinoma de mama intraductal invasivo. Hasta donde sabemos, este es el primer informe de caso de PND que se presentó con convulsiones tónico-clónicas generalizadas, disminución de la agudeza visual y pérdida aguda del conocimiento. Este estudio describe brevemente la PND y su asociación con los tumores de mama. Además, destaca la importancia de una alta sospecha clínica para detectar PND. (AU)


Humans , Female , Adult , Nervous System Diseases , Breast Neoplasms , Seizures , Carcinoma, Ductal, Breast , Paraneoplastic Syndromes
11.
G Ital Nefrol ; 39(3)2022 Jun 20.
Article En | MEDLINE | ID: mdl-35819037

Renal cell carcinoma (RCC) is the most common type of urogenital cancer. It has a mortality rate of 30-40% and is more commonly seen in men than women. In addition to gender, other risk factors of RCC include obesity, hypertension, smoking, and chronic kidney disease. Following the improvements in diagnostic tests, such as CT and MRI imaging, the incidence of patients diagnosed with RCC has rapidly increased over the past decades. The most common type of RCC, based on histological and molecular subtypes, is clear cell carcinoma which occurs frequently due to mutations in the VHL gene. Nephron-sparing surgery is a selective technique to maintain kidneys in patients while radical nephrectomy and partial nephrectomy are used to remove small tumors. In addition to surgical approaches, adjuvant therapy and targeted therapy are applied in patients with metastatic RCC. In this review, we give an overview of the most recent research on RCC which would help physicians to better manage patients with RCC.


Carcinoma, Renal Cell , Kidney Neoplasms , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/epidemiology , Carcinoma, Renal Cell/therapy , Combined Modality Therapy , Female , Humans , Kidney/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/epidemiology , Kidney Neoplasms/etiology , Male , Nephrectomy/methods
13.
Clin Case Rep ; 10(4): e05744, 2022 Apr.
Article En | MEDLINE | ID: mdl-35441011

Coronavirus disease-19 (COVID-19) vaccines are massively administered globally and some adverse events, such as myocarditis, are being reported. Most of the reported cases of post-vaccination myocarditis have occurred following mRNA vaccinations. However, there have also been recent reports of myocarditis following adenovirus vector vaccinations. We present a case of a 32-year-old female patient who developed myocarditis following the administration of the first dose of the AstraZeneca vaccine. The patient developed inappropriate exertional tachycardia and exertional dyspnea from Day 3 and was diagnosed with myocarditis by subsequent echocardiography about 3 months later. We are unable to confirm a direct association between myocarditis and AstraZeneca vaccination. However, we would like to increase awareness regarding the possibility of developing myocarditis following AstraZeneca vaccination.

14.
Future Microbiol ; 17: 647-651, 2022 06.
Article En | MEDLINE | ID: mdl-35414205

A 17-month-old boy with a known case of T-cell acute lymphoblastic leukemia was admitted to the authors' hospital because of blood-streaked diarrhea a week after his last chemotherapy session. Initially, he was treated with supportive care and an empiric regimen for opportunistic causes of diarrhea; however, this was not effective. Eventually, evaluation of his stool with PCR showed positivity for cytomegalovirus. Consequently, he responded dramatically to treatment with ganciclovir. Although cytomegalovirus colitis is rare, a few case reports suggest cytomegalovirus as a possible cause of colitis in children with leukemia, which can be fatal and should be considered as a differential diagnosis.


Colitis , Cytomegalovirus Infections , Leukemia , Opportunistic Infections , Child , Colitis/diagnosis , Colitis/drug therapy , Cytomegalovirus/genetics , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/diagnosis , Cytomegalovirus Infections/drug therapy , Diarrhea/drug therapy , Humans , Infant , Leukemia/complications , Male , Opportunistic Infections/complications
15.
Infez Med ; 30(1): 41-50, 2022.
Article En | MEDLINE | ID: mdl-35350251

Following the outbreak of the COVID-19 pandemic, millions of people around the world have been affected with SARS-CoV-2 infection. In addition to the typical symptoms, thrombotic events, lymphopenia, and thrombocytopenia have been reported in COVID-19 patients. Immune thrombocytopenic purpura (ITP) is one of the thrombotic events that occur in some COVID-19 patients. Hyperinflammation, cytokine storms, and immune dysregulation in some patients are the cause to the main COVID-19 complications such as ALI (acute lung injury), acute respiratory distress syndrome (ARDS), and multiple organ failure. Disruption in the differentiation of T-cells, enhanced differentiation of Th17 and Th1, cell death (pyroptosis), hyper-inflammation and dysfunction of inflammatory neutrophils and macrophages, and hyperactivity of NLRP3-inflammasome are among the important factors that may be the cause to COVID-19-induced ITP. This study aimed to give an overview of the findings on the immunopathogenesis of ITP and COVID-19-induced ITP. Further studies are required to better understand the exact immunopathogenesis and effective treatments for ITP, especially in inflammatory disorders.

16.
Clin Case Rep ; 10(2): e05462, 2022 Feb.
Article En | MEDLINE | ID: mdl-35198209

Subcutaneous panniculitis-like T-cell lymphoma is a rare and highly malignant extra-nodal lymphoma. It has a wide range of clinical presentations (such as periorbital swelling as in our case) and should be considered in the differential diagnosis of systemic lupus erythematosus, especially in children.

17.
Cureus ; 13(7): e16198, 2021 Jul.
Article En | MEDLINE | ID: mdl-34367801

Granulomatous inflammation has been reported to be associated with Hodgkin and non-Hodgkin lymphomas. Here, we report a case of recurrent diffuse large B-cell lymphoma (DLBCL) with extensive granulomatous inflammation that was initially misdiagnosed as granulomatous lymphadenitis. In 2019, a 75-year-old Caucasian male presented to our hospital with an enlarged right supraclavicular lymph node. He had a medical history of prostate cancer (in 2004), DLBCL (initially diagnosed in 2009), and rectal adenocarcinoma (in 2017), all of which responded well to treatment. In 2018, the patient had experienced right axillary adenopathy, weight loss, and intermittent night sweats. An excisional biopsy of a right axillary lymph node, performed at another institution, was diagnosed as granulomatous lymphadenitis. In 2019, at our hospital, an excisional biopsy of a right supraclavicular lymph node showed DLBCL in a background of granulomatous inflammation. A review of the prior right axillary lymph node biopsy also showed DLBCL with a background of extensive granulomatous inflammation. Chemotherapy was initiated and the patient's follow-up showed a good response. We report this case to raise awareness that granulomatous inflammation may obscure the diagnosis of some neoplasms, such as DLBCL, which are less commonly known to have granulomatous inflammation. This may result in delayed treatment and may ultimately affect outcomes.

18.
Infez Med ; 29(1): 1-9, 2021 Mar 01.
Article En | MEDLINE | ID: mdl-33664168

In this review, we summarize the possible mechanisms of COVID-19-associated coagulopathy and compare its features to other similar conditions. The recent COVID-19 pandemic has caused enormous mortality and morbidity worldwide. It is important to note that COVID-19-associated thrombotic events play a huge role in the morbidity of this disease. Interestingly, it has been observed that this complication may occur despite prophylactic anticoagulant therapy. Recent studies on COVID-19-associated coagulopathy revealed that the COVID-19-associated hypercoagulability is more frequently observed among those with a severe course of the disease. Various mechanisms have been suggested as explanations for this condition and possible underlying etiologies.


Blood Coagulation Disorders/etiology , COVID-19/complications , SARS-CoV-2 , Angiotensin-Converting Enzyme 2/metabolism , Anticoagulants/administration & dosage , Anticoagulants/adverse effects , Blood Coagulation Disorders/metabolism , COVID-19/blood , Endothelium, Vascular/metabolism , Fibrin Fibrinogen Degradation Products/metabolism , Hemostasis , Heparin/adverse effects , Humans , Interleukin-10/blood , Interleukin-6/blood , Receptors, Interleukin-2/blood , SARS-CoV-2/pathogenicity , Thrombophilia/etiology , Thrombosis/etiology , Tumor Necrosis Factor-alpha/blood , Virus Internalization
19.
Nutrition ; 32(2): 242-8, 2016 Feb.
Article En | MEDLINE | ID: mdl-26576958

OBJECTIVE: Limited data are available linking diet-related practices to functional dyspepsia (FD). The aim of this study was to investigate the association between meal frequency and prevalence of FD among a large sample of Iranian adults. METHODS: In this cross-sectional study, 4763 individuals from the general adult population in Isfahan were asked to report on how many main meals and snacks they consumed each day. Frequency of total meals was defined by summing up the frequency of main meals and snacks. Participants were grouped into four categories: less than three, three to five, six to seven, and eight or more meals daily. FD symptoms were assessed using a validated Persian version of the Rome III questionnaire, and FD was defined as bothersome postprandial fullness, early satiation, and/or epigastric pain or epigastric burning. RESULTS: Compared with individuals who had one main meal per day, those who consumed three main meals daily had a lower chance for early satiation (odds ratio [OR], 0.44; 95% confidence interval [CI], 0.21-0.90). Findings from the analysis on snack frequency revealed that, compared with those who never consumed snacks, individuals who consumed three to five snacks daily were 39% less likely to have FD (OR, 0.61; 95% CI, 0.40-0.92), had 42% lower odds of postprandial fullness (OR, 0.58; 95% CI, 0.34-0.98), and were at 43% lower risk for epigastric pain (OR, 0.57; 95% CI, 0.34-0.97). After adjustment for potential confounders, including diet-related behaviors, individuals who consumed six to seven total meals and snacks per day had lower odds of FD (OR, 0.51; 95% CI, 0.31-0.82) compared with those with who ate fewer than three meals and snacks daily. A similar inverse association was seen between meal and snack frequency and early satiation (OR, 0.32; 95% CI, 0.16-0.63) and postprandial fullness (OR, 0.54; 95% CI, 0.29-0.98). CONCLUSION: Results from the present study demonstrated an inverse association between meal and snack frequency and prevalence of FD and its components. Prospective studies are required to confirm these findings.


Abdominal Pain/epidemiology , Dyspepsia/epidemiology , Feeding Behavior , Adult , Body Mass Index , Body Weight , Cross-Sectional Studies , Dyspepsia/diagnosis , Female , Humans , Iran/epidemiology , Logistic Models , Male , Meals , Postprandial Period , Prevalence , Reproducibility of Results , Risk Factors , Satiation , Surveys and Questionnaires
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