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1.
Arch Iran Med ; 27(4): 191-199, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38685845

RESUMO

BACKGROUND: Gastric cancer is the fourth leading cause of cancer-related deaths in the world. The identification of gastric cancer subtypes related to recognizable microbial agents may play a pivotal role in the targeted prevention and treatment of this cancer. The current study is conducted to define the frequency of Epstein-Barr virus (EBV) infection in gastric cancers of four major provinces, with different incidence rates of gastric cancers, in Iran. METHODS: Paraffin blocks of 682 cases of various types of gastric cancer from Tehran, South and North areas of Iran were collected. Twelve tissue microarray (TMA) blocks were constructed from these blocks. Localization of EBV in tumors was assessed by in situ hybridization (ISH) for EBV-encoded RNA (EBER). Chi-squared test was used to evaluate the statistical significance between EBV-associated gastric cancer (EBVaGC) and clinicopathologic tumor characteristics. RESULTS: Fourteen out of 682 cases (2.1%) of gastric adenocarcinoma were EBER-positive. EBER was positive in 8 out of 22 (36.4%) of medullary carcinomas and 6 out of 660 (0.9%) of non-medullary type, which was a statistically significant difference (P<0.001). The EBVaGCs were more frequent in younger age (P=0.009) and also showed a trend toward the lower stage of the tumor (P=0.075). CONCLUSION: EBV-associated gastric adenocarcinoma has a low prevalence in Iran. This finding can be due to epidemiologic differences in risk factors and exposures, and the low number of gastric medullary carcinomas in the population. It may also be related to gastric tumor heterogeneity not detected with the TMA technique.


Assuntos
Adenocarcinoma , Infecções por Vírus Epstein-Barr , Herpesvirus Humano 4 , Hibridização In Situ , Neoplasias Gástricas , Análise Serial de Tecidos , Humanos , Neoplasias Gástricas/virologia , Neoplasias Gástricas/epidemiologia , Irã (Geográfico)/epidemiologia , Masculino , Feminino , Pessoa de Meia-Idade , Infecções por Vírus Epstein-Barr/epidemiologia , Infecções por Vírus Epstein-Barr/complicações , Herpesvirus Humano 4/genética , Herpesvirus Humano 4/isolamento & purificação , Idoso , Adenocarcinoma/virologia , Adenocarcinoma/epidemiologia , Adulto , RNA Viral/análise , Idoso de 80 Anos ou mais
2.
J Med Case Rep ; 17(1): 501, 2023 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-38049884

RESUMO

BACKGROUND: Splenic cysts are quite rare and asymptomatic. They may result from infection by a parasite, especially Echinococcus granulosus (hydatid cyst), or from non-parasitic causes. Since primary splenic cysts are not common, simple cysts can be misdiagnosed with a hydatid cyst in endemic areas. CASE PRESENTATION: We reported a 14-year-old Iranian girl initially presented with a vague abdominal pain, which progressed to left shoulder pain, fullness, early satiety, and shortness of breath and remained undiagnosed for 7 months despite seeking medical attention. Finally, imaging revealed a massive splenic cyst measuring 220 mm × 150 mm × 160 mm raising concern for a hydatid cyst due to regional endemicity. Consequently, the patient underwent total splenectomy. However, histopathological examination surprisingly revealed a simple non-parasitic cyst. CONCLUSIONS: Detecting rare simple spleen cysts requires early ultrasonography (US) and careful reassessment of diagnoses for non-responsive or worsening symptoms. Distinguishing them from splenic hydatidosis, especially in endemic areas, demands thorough paraclinical evaluations and patient history regarding potential parasitic exposure. While total splenectomy is the primary treatment for these huge cysts, the optimal surgical approach should be tailored case by case. These insights emphasize a comprehensive diagnostic approach to enhance accuracy and optimize patient care for these uncommon cysts.


Assuntos
Cistos , Equinococose , Parasitos , Esplenopatias , Feminino , Animais , Humanos , Adolescente , Irã (Geográfico) , Esplenopatias/diagnóstico por imagem , Esplenopatias/cirurgia , Cistos/diagnóstico por imagem , Cistos/cirurgia , Equinococose/diagnóstico por imagem , Equinococose/cirurgia
3.
J Cardiothorac Surg ; 18(1): 294, 2023 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-37845684

RESUMO

BACKGROUND: Teratoma is a type of germ cell tumor consisting of one or multiple tissues derived from germinal layers. The location and size of the tumor can cause various presentations. Here we report one of the largest ever cases of immature cystic teratoma. CASE PRESENTATION: In this report, we presented a 24-year-old patient with dyspnea, chest pain, nausea, and anorexia. A computed tomography scan revealed a giant, right-sided mass measuring about 190 × 150 × 140 mm. Chemotherapy was initiated for the patient, followed by thoracotomy. Histopathological evaluation revealed the nature of the mass to be an immature mediastinal teratoma. CONCLUSION: the incidence of immature mediastinal teratoma is uncommon, and due to its rarity, the diagnosis needs more profound evaluation studies such as radiological and pathological assessments. Immature teratomas are optimally treated by a combination of chemotherapy and complete resection.


Assuntos
Neoplasias do Mediastino , Neoplasias Embrionárias de Células Germinativas , Teratoma , Humanos , Adulto Jovem , Adulto , Teratoma/diagnóstico , Teratoma/tratamento farmacológico , Teratoma/cirurgia , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/tratamento farmacológico , Neoplasias do Mediastino/cirurgia , Radiografia , Tomografia Computadorizada por Raios X
4.
J Med Case Rep ; 17(1): 396, 2023 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-37723518

RESUMO

BACKGROUND: Posttransplant lymphoproliferative disorder is one of the most severe complications after transplantation, caused by uncontrolled proliferation of Epstein-Barr virus-positive B-cells in the setting of chronic immunosuppression. As one of the biggest transplant centers worldwide, we observed a potential increase in the number of patients with posttransplant lymphoproliferative disorder presenting with gastrointestinal symptoms in 1 year, during the coronavirus disease 2019 pandemic. There is limited information about dysregulation of the immune system following coronavirus disease 2019 infection, which may lead to Epstein-Barr virus reactivation in Epstein-Barr virus-positive B-cells and development of posttransplant lymphoproliferative disorder. Furthermore, there is no consensus in literature on a modality that can help in early diagnosis of posttransplant lymphoproliferative disorder with nonspecific gastrointestinal presentations before late and fatal complications occur. CASE PRESENTATION: Our case series includes five Iranian (Persian) patients, three female (2, 2.5, and 5 years old) and two male (2 and 2.5 years old), who developed gastrointestinal posttransplant lymphoproliferative disorder after liver transplantation. All of our patients were on a similar immunosuppressant regimen and had similar Epstein-Barr virus serologic status (seronegative at time of transplantation but seropositive at time of posttransplant lymphoproliferative disorder diagnosis). Four patients had either a positive coronavirus disease 2019 polymerase chain reaction test or exposure within the family. Although all of our patients presented with nonspecific gastrointestinal symptoms, four patients developed late posttransplant lymphoproliferative disorder complications such as bowel perforation and obstruction. All five patients with gastrointestinal posttransplant lymphoproliferative disorder received chemotherapy, but only two survived and currently are continuing the therapy. In one of the surviving patients, prompt endoscopic investigation resulted in early diagnosis of posttransplant lymphoproliferative disorder and a better outcome. CONCLUSION: Since 80% of our patients had exposure to coronavirus, a potential relationship might be suggested between the two. Furthermore, as we witnessed in one case, urgent endoscopic investigation in immunocompromised patients presenting with gastrointestinal symptoms can improve the clinical outcomes and therefore should be considered for early diagnosis of posttransplant lymphoproliferative disorder.


Assuntos
COVID-19 , Infecções por Vírus Epstein-Barr , Gastroenteropatias , Pré-Escolar , Feminino , Humanos , Masculino , Endoscopia Gastrointestinal , Infecções por Vírus Epstein-Barr/complicações , Evolução Fatal , Gastroenteropatias/etiologia , Herpesvirus Humano 4 , Incidência , Irã (Geográfico)/epidemiologia
5.
J Med Case Rep ; 17(1): 404, 2023 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-37735700

RESUMO

BACKGROUND: Sclerosing angiomatoid nodular transformation of the spleen is a relatively rare benign vascular lesion in both adult and pediatric age groups with unclear etiopathogenesis and variable clinical presentations. Many benign and also malignant splenic masses could mimic sclerosing angiomatoid nodular transformation, both clinically and radiologically. Herein, we report our experience with a case of sclerosing angiomatoid nodular transformation in a 3-year-old girl. CASE REPORT: A 3-year-old Iranian girl presented with abdominal pain, back pain, and constipation for 2 weeks. She was being followed up by a pediatrician due to her short stature and persistent anemia. Physical examination showed stable vital signs, short stature, pallor, and a puffy face. Laboratory evaluation showed normochromic normocytic anemia with a normal reticulocyte count, ferritin, and hemoglobin electrophoresis. Radiologic assessments revealed a hypoechoic lesion in the spleen with high vascularity, clinically suspected to be lymphoma. She was operated on, and after partial splenectomy, pathologic evaluation of the spleen showed a solitary, well-demarcated, and unencapsulated dark mass. Microscopic examination revealed micronodular appearance composed of irregular-shaped vascular spaces lined by plump endothelial cells and surrounded by concentric collagen fibers, features in keeping with sclerosing angiomatoid nodular transformation. The patient's anemia was resolved after surgery, and no clinical or radiologic deficits were noted during the 10-month follow-up visits. CONCLUSION: Although sclerosing angiomatoid nodular transformation is exceedingly rare in children, it should be considered a differential diagnosis in pediatric splenic neoplasms with concurrent hematologic manifestations, such as anemia.


Assuntos
Anemia , Histiocitoma Fibroso Benigno , Adulto , Feminino , Criança , Humanos , Pré-Escolar , Baço/diagnóstico por imagem , Células Endoteliais , Irã (Geográfico) , Anemia/etiologia
6.
Cancer Cell Int ; 23(1): 166, 2023 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-37568237

RESUMO

BACKGROUND: There exists strong evidence that human papillomavirus (HPV) is associated with cervical cancer (CC). HPV E6 is a major oncogene whose sequence variations may be associated with the development of CC. There is not sufficient data on the distribution of HPV types in ThinPrep cytology specimens and HPV 16/18 E6 gene variations among CC patients in the southwest of Iran. This study was conducted to contribute to HPV screening and vaccination in Iran. METHODS: A total of 648 women screened for cervicitis, intraepithelial neoplasia or CC were included in the study. All participants underwent ThinPrep cytology testing, single-step HPV DNA detection and allele-specific reverse hybridization assays. Moreover, a total of 96 specimens previously tested positive for single infection with HPV16 or 18 were included for variant analysis. HPV16/18 lineages and sublineages were determined by PCR assays followed by sequencing the E6 gene and the construction of neighbor-joining phylogenetic trees. RESULTS: Overall, HPV DNA was detected in 62.19% of all the screened subjects. The detection rates of HPV DNA among individuals with normal, ASC-US, ASC-H, LSIL, and HSIL cervical cytology were 48.9%, 93.6%, 100%, 100%, and 100%, respectively. Low-risk HPVs were detected more frequently (46.9%) than high-risk (38.9%) and possible high-risk types (11.1%). Of 403 HPV-positive subjects, 172 (42.7%) had single HPV infections while the remaining 231 (57.3%) were infected with multiple types of HPV. Our results indicated a remarkable growth of high-risk HPV66 and 68 and low-risk HPV81 which have rarely been reported in Iran and HPV90 and 87 that are reported for the first time in the country. In addition, 3 lineages (A, D, and C) and 6 sublineages (A1, A2, A4, C1, D1, and D2) of HPV16, and one lineage and 4 sublineages (A1, A3, A4, and A5) of HPV18 were identified. The studied HPV16 and 18 variants mainly belonged to the D1 and A4 sublineages, respectively. CONCLUSION: The present study suggests that the prevalence of HPV infection in women of all age groups with or without premalignant lesions in the southwestern Iran is high and the predominant HPV types in the southwest of Iran may differ from those detected in other parts of the country. This study also highlights the necessity of not only initiating HPV vaccination for the general population but also developing new vaccines that confer immunity against the prevalent HPV types in the area and national cervical screening programs using a combination of thinPrep cytology test and HPV detection assays in order to improve the accuracy of the screening.

7.
Adv Exp Med Biol ; 1412: 357-374, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37378777

RESUMO

BackgroundImmunocompromised patients have lower seroconversion rate in response to COVID-19 vaccination. The aim of this study is to evaluate the humoral immune response with short-term clinical outcomes in solid organ transplant recipients vaccinated with SARS-CoV-2 vaccine (BBIBP-CorV; Sinopharm).MethodsThis prospective cohort was conducted from March to December 2021 in Abu Ali Sina hospital, Iran. All transplant recipients, older than 18 years were recruited. The patients received two doses of Sinopharm vaccine 4 weeks apart. Immunogenicity was evaluated through assessment of antibodies against the receptor-binding domain (RBD) of SARS-CoV-2 after the first and second dose of vaccine. The patients were followed up for 6 months after vaccination.ResultsOut of 921 transplant patients, 115 (12.5%) and 239 (26%) had acceptable anti S-RBD immunoglobulin G (IgG) levels after the first and second dose, respectively. Eighty patients (8.68%) got infected with COVID-19 which led to 45 (4.9%) of patients being hospitalized. None of the patients died during follow-up period. Twenty-four (10.9%) liver transplant recipients developed liver enzyme elevation, and increased serum creatinine was observed in 86 (13.5%) kidney transplant patients. Two patients experienced biopsy-proven rejection without any graft loss.ConclusionOur study revealed that humoral response rate of solid organ transplant recipients to Sinopharm vaccine was low.


Assuntos
COVID-19 , Transplante de Rim , Humanos , Vacinas contra COVID-19 , Estudos Prospectivos , Transplantados , COVID-19/prevenção & controle , SARS-CoV-2 , Anticorpos Antivirais
8.
Clin Case Rep ; 11(6): e7524, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37323254

RESUMO

We reported two patients, a 45-year-old lady and a 48-year-old man, known cases of untreated liver and lung hydatid cysts complicated with bronchobiliary fistulae. Surgery was performed, and bronchobiliary fistulae were diagnosed intraoperatively. Lobectomy was done on the lobe, which was chronically infected. Symptoms resolved after surgery in both cases. Green-colored sputum in a patient with a history of echinococcosis should raise the physician's attention to the probability of a connection between the bronchial tree and the biliary tract. Surgery in advanced cases is a suitable therapeutic option.

9.
Gastrointest Tumors ; 10(1): 1-5, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36742415

RESUMO

Gastrointestinal mast cell sarcoma is a rare variant of mastocytosis. It is a unifocal tumor with high destructive capacity and metastatic potential. Diagnosis of mast cell sarcoma can be challenging and might be so delayed that unfavorable prognosis may be expected. In this case report, we will describe our experience with a case of mast cell sarcoma in the small intestine of an elderly woman, which was diagnosed early on throughout the course of her disease and successfully treated. The patient was a 59-year-old woman who presented with abdominal pain, flushing, weight loss, and vomiting. Imaging studies supported the existence of an infiltrative neoplasm in the jejunum. Then, surgical removal of the tumor was performed. The presence of mast cells in the resected tumor was confirmed by immunohistochemistry, histopathology, and Giemsa staining. After almost a year of follow-up, the patient's overall condition was fine, and no signs of recurrence were found. This is the first reported case of successfully treated gastrointestinal mast cell sarcoma. All of the previously reported cases had been diagnosed after recurrence with no response to treatment. Our case shows the significance of early diagnosis and treatment in this condition and its impact on outcome and prognosis. That could be achieved only if the pathologist has a high suspicion for this rare disease and keeps it in the back of one's mind.

10.
Cell Biochem Funct ; 41(3): 296-308, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36815688

RESUMO

Diabetes is an autoimmune disease in which the pancreatic islets produce insufficient insulin. One of the treatment strategies is islet isolation, which may damage these cells as they lack vasculature. Biocompatible scaffolds are one of the efficient techniques for dealing with this issue. The current study is aimed to determine the effect of transfected BM-MSCS with angiomiR-126 and -210 on the survival and functionality of islets loaded into a 3D scaffold via laminin (LMN). AngiomiRs/Poly Ethylenimine polyplexes were transfected into bone marrow-mesenchymal stem cells (BM-MSCs), followed by 3-day indirect co-culturing with islets laden in collagen (Col)-based hydrogel scaffolds containing LMN. Islet proliferation and viability were significantly increased in LMN-containing scaffolds, particularly in the miRNA-126 treated group. Insulin gene expression was superior in Col scaffolds, especially, in the BM-MSCs/miRNA-126 treated group. VEGF was upregulated in the LMN-containing scaffolds in both miRNA-treated groups, specifically in the miRNA-210, leading to VEGF secretion. MiRNAs' target genes showed no downregulation in LMN-free scaffolds; while a drastic downregulation was seen in the LMN-containing scaffolds. The highest insulin secretion was recorded in the Oxidized dextran (Odex)/ColLMN+ group with miRNA-126. LMN-containing biocompatible scaffolds, once combined with angiomiRs and their downstream effectors, promote islets survival and restore function, leading to enhanced angiogenesis and glycemic status.


Assuntos
Ilhotas Pancreáticas , Células-Tronco Mesenquimais , MicroRNAs , Laminina/metabolismo , Laminina/farmacologia , Técnicas de Cocultura , Fator A de Crescimento do Endotélio Vascular/genética , Fator A de Crescimento do Endotélio Vascular/metabolismo , Insulina/metabolismo , Colágeno/metabolismo , Células-Tronco Mesenquimais/metabolismo , MicroRNAs/metabolismo , Alicerces Teciduais
11.
J Cardiothorac Surg ; 18(1): 3, 2023 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-36604701

RESUMO

BACKGROUND: Cavernous hemangioma is a rare benign tumor which can sometimes mimic the clinical presentation and radiological findings of malignant tumors. Here we present a rare presentation of cavernous hemangioma in the mediastinum (CHM), along with a literature review among the main databases. CASE PRESENTATION: We present a 48-year-old male who had suffered from persistent cough as the sole symptom of an anterior CHM. Computed tomography scan demonstrated a 12.5 × 10.8 cm mass in the anterior mediastinum. The mass was surgically resected, and histopathological evaluation established the diagnosis of CHM. The patient was discharged in good condition, in which during his four-month follow-up period, no recurrence of the tumor has been observed. CONCLUSION: Although cavernous hemangioma rarely present in the mediastinum, it should be considered in the differential diagnosis of mediastinal tumors. However, our review of literature demonstrated a female dominance and average age of 40 years, with a 52% mortality rate based on previous reports.


Assuntos
Hemangioma Cavernoso , Hemangioma , Neoplasias do Mediastino , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Mediastino/diagnóstico por imagem , Mediastino/patologia , Neoplasias do Mediastino/complicações , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/cirurgia , Tosse/etiologia , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/diagnóstico por imagem
12.
J Pediatr Endocrinol Metab ; 36(3): 331-334, 2023 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-36659819

RESUMO

OBJECTIVES: Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far. CASE PRESENTATION: Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy. Therefore, targeted-gene sequencing (TGS) covering 450 genes involved in inborn errors in metabolic diseases was performed. The results of TGS showed a rare novel homozygous pathogenic variant c.944del (p.Gly315ValfsTer15) in the ALDOB gene. CONCLUSIONS: This report introduces a novel variant that expands the mutational spectrum of the ALDOB gene in patients with HFI.


Assuntos
Intolerância à Frutose , Feminino , Humanos , Pré-Escolar , Intolerância à Frutose/genética , Frutose-Bifosfato Aldolase/genética , Irã (Geográfico) , Mutação , Homozigoto , Frutose
13.
Clin Transplant ; 37(3): e14867, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36433721

RESUMO

INTRODUCTION: Liver transplantation (LT) is the choice of therapeutic option for end-stage hepatic GSD patients; however, reports about the long-term outcome of LT in these patients have remained controversial. METHODS: We performed a systematic review and meta-analysis of observational studies published until Dec 31, 2021, that investigated the long-term outcome of LT in hepatic GSD patients. A literature search in the MEDLINE/PubMed, EMBASE,Cochrane Library, Scopus and Web of Science Core Collection databases was performed. RESULTS: 14 studies with 210 patients were included in our analysis. As the results showed, the pooled proportion of GSD patients with complications after liver transplant (e.g., hemorrhagic shock, biliary complications, tacrolimus encephalopathy, chronic hepatitis, hepatic artery thrombosis, hepatic adenoma, sepsis, liver dysfunction, chronic rejection, acute cellular rejection, and CMV infection) was 27.7% (95% CI: 20.42-35.67) without heterogeneity (I2  = 24.04%), as calculated by the random-effect model. The pooled proportion of GSD patients with complications related to GSD after LT, including HCC (Hepatocellular carcinoma), renal complication, muscle problems, delayed menarche, persistent neutropenia, pneumonitis, renal failure, and hepatic adenoma was 22.2% (95% CI: 7.97-40.01) with high heterogeneity (I2  = 82.47%). Subgroup analysis including the age of patients (adult/pediatric), duration of follow-up, and type of donor was conducted to investigate the resources of heterogeneity. CONCLUSION: According to our investigation and review analysis, most GSD patients showed significant outcome improvement after liver transplantation. Overall, our findings showed an excellent outcome of liver transplantation in GSD patients; however, it needs further investigations to be confirmed.


Assuntos
Adenoma , Carcinoma Hepatocelular , Doença de Depósito de Glicogênio , Neoplasias Hepáticas , Transplante de Fígado , Adulto , Feminino , Humanos , Criança , Transplante de Fígado/efeitos adversos , Carcinoma Hepatocelular/etiologia , Neoplasias Hepáticas/etiologia , Doença de Depósito de Glicogênio/complicações , Adenoma/complicações
14.
Orphanet J Rare Dis ; 17(1): 424, 2022 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-36471409

RESUMO

BACKGROUND: Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransferase (TAT), and 4-hydroxyphenyl-pyruvate dioxygenas (HPPD) genes, respectively. There are still unclarified aspects in their clinical presentations, mutational spectrum, and genotype-phenotype correlation. MAIN BODY: In this study, we evaluated the spectrum of TAT and HHPD gene mutations in patients with tyrosinemia type II and III. Moreover, biochemical and clinical findings are evaluated to establish a genotype-phenotype relationship in the above-mentioned patients. Thirty-three TAT variants have been reported in 42 families, consisting of 21 missense variants, 5 frameshift variants, 4 nonsense variants, 2 variants that primarily cause splicing site, and 1 skipping complete exon (large deletion). The most common variant is p.Arg57Ter, causing a splicing defect, and resulting in premature termination of translation, which was found in 10 patients from 3 families. In HPPD gene, eleven variants in 16 patients have been reported including 7 missense variants, 2 nonsense variants, 1 splice defect, and 1 frameshift variant so far. All variants are unique, except for p.Tyr160Cys, which is a missense variant found in two different patients. Regarding genotype-phenotype correlations, in 90% of tyrosinemia type II patients, positive clinical and biochemical correlations with a detected variant are observed. In HPPD gene, due to the small number of patients, it is not possible to make a definite conclusion. CONCLUSION: This is the first large review of variants in TAT and HPPD, highlighting the wide spectrum of disease-causing mutations. Such information is beneficial for the establishment of a privileged mutation screening process in a specific region or ethnic group.


Assuntos
Tirosinemias , Humanos , Etnicidade , Éxons , Mutação/genética , Mutação de Sentido Incorreto/genética , Tirosinemias/etnologia , Tirosinemias/genética
15.
Pan Afr Med J ; 42: 269, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36338553

RESUMO

The existence of primary renal lymphoma (PRL) in the kidney has long been debated due to its extranodal location and lack of lymphatic channels. Primary renal lymphoma is extremely rare, accounting for less than 1%, and is frequently misdiagnosed as renal cell carcinoma (RCC). We present a 50-year-old man presenting with right flank pain in the last week. The computed tomography scan showed a large isodense right renal mass with a small para-aortic lymph node suspected of RCC. The patient underwent right radical nephrectomy and lymphadenectomy with an uneventful postoperative outcome. The histopathology and immunohistochemistry showed diffuse large B-cell lymphoma. Then, the patient received five-cycle chemotherapy and regional radiotherapy. Within five years of follow-up, no symptoms of recurrence. In conclusion, even though PRL is a rare tumor type. An effort should be made to make a preoperative diagnosis because PRL can be treated with systemic chemotherapy instead of other renal tumors requiring nephrectomy.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Linfoma Difuso de Grandes Células B , Masculino , Humanos , Pessoa de Meia-Idade , Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/terapia , Neoplasias Renais/tratamento farmacológico , Nefrectomia , Linfoma Difuso de Grandes Células B/terapia , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Rim/patologia
16.
Microbiol Immunol ; 66(11): 510-518, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36073532

RESUMO

There are a limited number of studies regarding the involvement of viruses in the development and pathogenesis of renal cell carcinoma (RCC). In this study, we aimed to discover whether human herpesvirus 6A (HHV-6A) and 6B (HHV-6B) and human polyomavirus JC (JCV) and BK (BKV) are associated with RCC and the expression of p53, p16INK4a, Ki-67, and nuclear factor-κB (NF-κB) in patients with RCC. A total of 122 histologically confirmed RCC tissue specimens and 96 specimens of their corresponding peritumoral tissues were included in this prospective study. Nested PCR was performed to amplify viral DNA sequences. Restriction endonuclease analysis was carried out to discriminate between HHV-6A and HHV-6B. p53, p16INK4a, Ki-67, and NF-κB immunostaining data of the studied tissue specimens were available from our previous study. Statistical analysis was performed to demonstrate the potential associations. HHV-6B and JCV were detected in 10.7% and 13.9% of patients with RCC, respectively. We did not detect HHV-6A and BKV in any of RCC tissue specimens. Moreover, no association was found between either of these viruses and RCC. Our study revealed a significant association between HHV-6B and p53 overexpression. No other associations were found between cellular biomarkers p53, p16INK4a, Ki-67, and NF-κB and the studied viruses. The data of this study, though very limited, disprove the involvement of HHV-6A, HHV-6B, BKV, and JCV in the initiation or progression of RCC.


Assuntos
Carcinoma de Células Renais , Herpesvirus Humano 6 , Vírus JC , Neoplasias Renais , Humanos , DNA Viral/genética , Herpesvirus Humano 6/genética , Vírus JC/genética , Antígeno Ki-67 , NF-kappa B , Estudos Prospectivos , Proteína Supressora de Tumor p53/genética
17.
J Med Case Rep ; 16(1): 296, 2022 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-35915504

RESUMO

BACKGROUND: Elastofibroma dorsi is a rare benign tumor of soft tissue, typically under the lower angle of the scapula. Its specific location and distinctive clinical symptoms can provide enough information for diagnosis. Nevertheless, pathological confirmation by biopsy may be needed to rule out other malignancies. CASE PRESENTATION: Here, we present two cases of 63-year-old and 49-year-old female Asian patients who came to us with the chief complaint of pain and bulging in their shoulders. Both patients had rubbery and mobile masses. Also, shoulder movements were not restricted in the examination; however, the patients expressed pain during movements. Computed tomography scans were compatible with the diagnosis of elastofibroma dorsi. Surgical excision was performed for both cases owing to the symptomatic nature of the masses, and histopathological findings confirmed the diagnosis. CONCLUSION: Elastofibroma dorsi is a benign pseudotumor presenting with an uncomfortable feeling in the shoulder with movement in older females. In typical symptom-free cases of elastofibroma dorsi, observation is sufficient, while in symptomatic patients or if there is suspicion of malignancy, complete resection with marginal resection is the treatment of choice.


Assuntos
Fibroma , Neoplasias de Tecidos Moles , Idoso , Feminino , Fibroma/diagnóstico por imagem , Fibroma/cirurgia , Humanos , Dor , Escápula/diagnóstico por imagem , Escápula/patologia , Escápula/cirurgia , Ombro/diagnóstico por imagem , Ombro/patologia , Ombro/cirurgia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/cirurgia
18.
Rare Tumors ; 14: 20363613221103751, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35651782

RESUMO

Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare tumor of the soft tissue, usually located in lower extremities. There are rarely tumors reported in other anatomic locations. Herein, we report retroperitoneal PHAT in a male patient. A 41-year-old man was referred to our clinic due to an incidentally found retroperitoneal mass. Computed tomography (CT) scan showed a solid hypoechoic lesion containing fat component and calcified elements measuring about 80*72*45 mm in the right lower quadrant (RLQ) of the abdomen. Magnetic resonance imaging (MRI) showed circumscribe lesion measuring about 60 x 48 mm with partial enhancement and fat component. In pelvic exploration, a large mass was found that had encased the right external iliac artery and vein. Therefore, the mass and its surrounding iliac vessels were excised and removed en block. Then, the external iliac vessels were reconstructed with Gortex graft. No recurrence was found in 1 month and 3 months post-operation follow up. We report a pelvic retroperitoneal PHAT as a rare location of this tumor. It seems that PHAT must be considered in differential diagnosis in patients with soft tissue tumors in the pelvic cavity.

19.
Clin Pathol ; 15: 2632010X221096378, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35651850

RESUMO

Background: Gastric cancer is one of the lethal cancers and there is no effective treatment for these patients and still, 5-year survival rate is about 25% to 30%. Finding reliable biomarkers for early-stage diagnosis, targeted therapy, and survival prediction is a priority in this cancer. Objectives: In this study we were trying to know about the molecular classification of gastric cancers in a group of patients from the South of Iran. Patients and Methods: In a cross sectional study, 50 specimens of gastric cancer were selected that have enough tissue to be stained by immunohistochemistry (IHC). IHC was performed for Her-2, mismatch repair genes (MLH-1, MSH-2, MSH-6, and PMS-2), and PDL-1. Frequency of positive makers was compared with survival and outcome. Results and Conclusion: In our study, deficient MMR (dMMR) was detected in 4 patients (8.0%). PD-L1 expression in tumor cells (TC) was observed in 1 of 4 cases (25%) with PMS2 loss. However, PD-L1 in TCs and TILs (tumor infiltrating lymphocytes) was negative in 1 case with MLH1 loss and in 3 of 4 cases with PMS2 loss, which was not statistically significant. All of our 50 cases were positive for MSH2 and MSH6, 24% of which showed TCs with PDL-1 expression and 32% of them in TIL. HER2 was positive in 2 (2/50, 4.0%) cases, among which all of the cases were positive for PD-L1 expression in TCs and TILs, respectively. However, in HER2-negative group, 26.2% (11/42) and 28.6% (12/42) of tumors were positive for PD-L1 in TCs and TILs, respectively. The expression rate of PD-L1 in HER2 negative TCs was significantly higher than that in HER2 positive TCs (P = .033). Immunohistochemistry for Her-2 was equivocal in 6 cases (12.0%) none of which expressed PD-L1 in tumor cells. In our study minimum and maximum survival times from detection of gastric cancer were 1 and 87 months, respectively. The mean ± SD and median ± SD of overall survival time were 30.69 ± 4.88 and 18 ± 1.45 months, respectively. One and 3-year survival rates of 40% and 24%, respectively. PD-L1 expression was not associated with survival, but its expression was associated with intestinal type Lauren classification and negative HER-2. PD-L1 positivity in tumor cells or tumor infiltrating lymphocytes was not an independent prognostic factor in gastric cancer.

20.
Asian Pac J Cancer Prev ; 23(6): 1993-2000, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-35763641

RESUMO

BACKGROUND AND AIM: Prostate cancer is the second most common cancer among men that has affected their quality of life. This study aimed to find prostate tissue-specific genes using bioinformatics methods to specifically target prostate cells in case of metastasis to other tissues. MATERIALS AND METHODS: In this study, after finding a specific gene (MSMB)  that is highly expressed in cancer, the optimal promoter region of this gene was isolated and inserted in an expression vector. Then, this vector was transfected into two prostate cancer cell lines (DU145 and LNCaP) and three non-prostate cell lines  (LX-2, MRC-5, and U87) using the PEI chemical method. The expression of this vector in these cells was examined using fluorescent microscopy and flow cytometry. RESULTS: We observed that the expression of MSMB promoter in DU145 cell line has a much higher activity than the CMV promoter, which is a ubiquitous promoter. The MSMB promoter didn't show any activity in cells other than that of prostate derived cell lines. CONCLUSION: MSMB  gene promoter with specific expression and high efficiency in prostate tissue compared to CMV promoter can play an essential role in gene therapy of prostate cancer.


Assuntos
Infecções por Citomegalovirus , Neoplasias da Próstata , Proteínas Secretadas pela Próstata , Terapia Genética , Humanos , Masculino , Regiões Promotoras Genéticas/genética , Neoplasias da Próstata/genética , Neoplasias da Próstata/metabolismo , Neoplasias da Próstata/terapia , Proteínas Secretadas pela Próstata/genética , Proteínas Secretadas pela Próstata/metabolismo , Qualidade de Vida
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