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Background: Recently, genetic mutations in surfactant protein C (SFTPC) have been linked to diffuse parenchymal lung diseases (DPLD). The present study investigated SFTPC mutations among Iranian patients with DPLD for the first time. Materials and Methods: In this study, we examined 28 patients diagnosed with DPLD. Patients were divided into two groups: 23 cases (82.1%) had interstitial lung disease (ILD), 7 (30.4%) of which were categorized as familial ILD, and 5 cases (17.9%) had pulmonary alveolar proteinosis (PAP). Genetic variations in the SFTPC gene were detected by direct DNA sequencing. Results: The mean (±SD) age of patients was 21.8 (± 17.1) years and 60.7% of the patients were male. Overall, 11 different mutations were detected in the SFTPC gene. Two novel mutations, c.202-43 G>A and c.416 G>C, were detected among patients. The c.201+49 C>T mutation showed a significant difference with the minor allele frequency (MAF) data. There was no significant difference between the most frequent mutations in Iranian patients and those of the general population in the world. The proximity analysis showed similarity between Iranian patients and patients of the African race. We did not find any correlation between SFTPC mutations and DPLD in the patients. Conclusion: It seems that the rs2070684 (c.201+49 C>T) mutation could be used as a specific genetic marker for distinguishing the Iranian population from other human races in the world. There was a correlation between some intronic variations and the development of disease. A new missense mutation, c.416 G>C that encodes Arg139Thr, could probably damage the protein structure and/or function and cause the signs and symptoms of DPLD. [ABSTRACT FROM AUTHOR]

Background: An initial evaluation of non-small cell lung cancer (NSCLC) patients with 18F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) scan can modify treatment planning. We investigated the clinical significance of FDG PET/CT quantitative parameters (QPs) in NSCLC patients. Materials and Methods: We included 125 NSCLC patients for initial staging FDG PET/CT scan. The primary tumor (T), regional lymph node metastases (N), and distant metastases (M) were evaluated on FDG PET/CT images. QPs, including standard uptake value (SUVmax), metabolic tumor volume (MTV), and total lesion glycolysis (TLG) were calculated separately for each T, N, and M lesion and also for the whole body. Statistical analysis through SPSS version 22 was used to evaluate the clinical significance of PET/CT QPs concerning primary tumor pathology characteristics, initial tumor stage, and patient's prognosis. Results: We followed the patients for 19.28 (±11.42) months. Considering primary tumor pathology, there was a significant difference in FDG PET/CT QPs, including primary tumor SUVmax (p=0.00), metastases SUVmax (p=0.014), whole-body MTV (p=0.045), and whole-body TLG (p=0.002). There was also a significant difference in QPs, including primary tumor SUVmax (p=0.00) and regional lymph node metastases SUVmax (p=0.048) when accounting for tumor initial stage. There was a significant prognostic value for the whole-body TLG (p=0.01) and a cut-off point of 568 was reached to differentiate better versus worse survival outcome. Conclusion: We demonstrated a statistically significant difference in FDG PET/CT QPs when accounting for primary NSCLC pathology characteristics and initial stage, as well as patient's prognosis, and recommend incorporating QP values into clinical PET/CT reports. [ABSTRACT FROM AUTHOR]

Good's syndrome, the adult onset hypogammaglobulinemia associated with thymoma has been explained about six decades ago. It generally presents with recurrent infections and several paraneoplastic syndromes including myasthenia gravis, pure red cell aplasia, connective tissue disorders, superior vena cava, Horner's syndrome, lichen planus and inflammatory bowel disease. Lack of B cell, dysfunction of T cell, CD4+ T cell lymphopenia, reversed CD4/CD8+ T cell ratio, autoantibodies against Th17 related cytokines have been respected as the pathogenesis of the immune dysregulation this syndrome. A 57-year-old man was admitted to our hospital with a history of thymectomy due to thymoma (Type A) 6 years ago. He developed weight loss and recurrent persistent diarrhea caused by isospora belli. His chest CT scan revealed bilateral bronchiectasis. His laboratory data showed hypogammaglobulinemia and he was treated by monthly IVIG with the diagnosis of good's syndrome. Nevertheless he referred again with left sided loss of vision because of CMV retinitis and he also developed nail candidiasis. Good's syndrome should be considered in every patient with a history of thymoma and recurrent infection. Immunologic evaluation of these patients including measurement of the serum level of immunoglobulin as well as B cell and T cell subgroups should be performed. Physicians must be aware and think about this entity in patients with adult onset immunodeficiency. [ABSTRACT FROM AUTHOR]

Acremonium spp. cause human superficial infections including mycetoma, onychomycosis and keratitis. There are a few reports of systemic involvement in immunocompromised patients. However, isolated pulmonary infection in otherwise healthy hosts has never been reported in the literature. Herein, we report a 59 year-old diabetic man with non-resolving pneumonia due to Acremonium spp. and provide a consensus review of the published clinical cases of systemic and respiratory tract infections. [ABSTRACT FROM AUTHOR]

Cardiac lipomas are extremely rare tumors of the heart. They are usually symptomatic and rarely may be found incidentally in autopsies. Here we describe a 23-year-old healthy man, in whose physical examination for employment a murmur was found incidentally. Transthoracic and then transesophageal echocardiographic examination showed a 4-cm oval-shaped mass in the right ventricular outflow tract. He underwent elective surgery, during which the tumor was removed under cardiopulmonary bypass and aortic-cross clamping via right atriotomy. The postoperative course was uneventful, and the patient was in good condition at 1 year's follow-up. [ABSTRACT FROM AUTHOR]

Introduction: The purity of genomic DNA (gDNA) extracted from different clinical specimens optimizes sensitivity of polymerase chain reaction (PCR) assays. This study attempted to compare two different DNA extraction techniques namely salting-out and classic phenol-chloroform. Materials and Methods: Qualification of two different DNA extraction techniques for 634 clinical specimens highly suspected of having mycobacterial infection was performed. Genomic DNA was extracted from 330 clinical samples using phenol-chloroform and 304 by non-toxic salting-out. Qualification of obtained gDNA was done through amplification of internal controls, β-actin and β-globin. Results: β-actin-positive was detected in 279/330 (84%) and 272/304 (89%) samples by phenol-chloroform technique and salting-out, respectively. PCR inhibitor was found for the gDNA of 13/304 (4%) patient samples were negative by β-actin and β-globin tests via salting-out technique in comparison with gDNAs from 27/330 (8.5%) samples extracted by phenol-chloroform procedure. No statistically significant difference was found between phenolchloroform technique and salting-out for 385 sputum, 29 bronchoalveolar lavage (BAL), 105 gastric washing, and 38 body fluid (P=0.04) samples. This illustrates that both techniques have the same quality for extracting gDNA. Conclusion: This study discloses salting-out as a non-toxic DNA extraction procedure with a superior time-efficiency and cost-effectiveness in comparison with phenol-chloroform and it can be routinely used in resource-limited laboratory settings. [ABSTRACT FROM AUTHOR]

Background: Polymerase chain reaction (PCR) assay has widely used for the detection of tuberculosis (TB). This study tried to compare in-house PCR with some well-known commercial PCR kits for detection of TB agent. Methods: Clinical samples obtained from 620 TB suspected patients were analyzed for the diagnosis of Mycobacterium tuberculosis complex (MTC) by in-house PCR. All samples were obtained through pulmonary specimens consisted of 384 sputum, 148 bronchial aspirates and 88 pleural effusions. Results: Considering culture as a golden criterion, in which its diagnostic sensitivity and specificity of PCR assay were 87.7% and 85.6%, respectively. The findings of this study also indicate 22.1% (137/620) of the specimens were detected as MTC by PCR. Both PCR and culture confirmed presence of MTC in 57 of the samples. In comparison to culture, the diagnostic sensitivity of PCR for sputum was 87.5% (42/48), bronchial aspirates 100% (12/12), and 60% (3/5) for pleural effusions. The sensitivity of in-house PCR method is comparable with the sensitivity of Amplicor and Cobas TaqMan for MTC. Conclusion: The study illustrates the in-house PCR assay for detection of MTC has high sensitivity and specificity versus approved commercial kits. This could be reliable test in the diagnosis of MTC in resource-limited countries. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 60-year-old woman, who was admitted due to persistent right-sided vague chest pain since two months ago. It states that laboratory analysis revealed normal complete blood count, arterial blood gases, liver and renal function tests, serum lactate dehydrogenase and angiotensin converting enzyme levels. Based on chest computed tomography (CT) findings and negative repeated sputum smears, the patient underwent CT-guided biopsy of lung nodules.

Intracardiac involvement is a rare presentation of relapsed multiple myeloma. We present a case of lobulated mass in the wall of the right atrium, with extension to the inferior vena cava and obliteration and encasement of the interatrial septum in a 57-year-old man, a known case of multiple myeloma, with progressive exertional dyspnea and anasarca. [ABSTRACT FROM PUBLISHER]

A photo quiz related to AIDS and pneumonia is presented.

Visceral Leishmaniasis (VL), a systemic infection of the reticuloendotherlial system, is caused by a parasitic infection. The co-occurrence of VL and hemophagocytic syndrome (HPS) has been previously reported in several studies. In this report we present two cases of HPS and VL among members of the same family. [ABSTRACT FROM AUTHOR]

A quiz concerning the diagnosis of a 60-year-old man who was admitted to a hospital because of fever, progressive dyspnea, and non-productive cough is presented.

Background: Recently, genetic mutations in surfactant protein C (SFTPC) have been linked to diffuse parenchymal lung diseases (DPLD). The present study investigated SFTPC mutations among Iranian patients with DPLD for the first time., Materials and Methods: In this study, we examined 28 patients diagnosed with DPLD. Patients were divided into two groups: 23 cases (82.1%) had interstitial lung disease (ILD), 7 (30.4%) of which were categorized as familial ILD, and 5 cases (17.9%) had pulmonary alveolar proteinosis (PAP). Genetic variations in the SFTPC gene were detected by direct DNA sequencing., Results: The mean (±SD) age of patients was 21.8 (± 17.1) years and 60.7% of the patients were male. Overall, 11 different mutations were detected in the SFTPC gene. Two novel mutations, c.202-43 G>A and c.416 G>C, were detected among patients. The c.201+49 C>T mutation showed a significant difference with the minor allele frequency (MAF) data. There was no significant difference between the most frequent mutations in Iranian patients and those of the general population in the world. The proximity analysis showed similarity between Iranian patients and patients of the African race. We did not find any correlation between SFTPC mutations and DPLD in the patients., Conclusion: It seems that the rs2070684 (c.201+49 C>T) mutation could be used as a specific genetic marker for distinguishing the Iranian population from other human races in the world. There was a correlation between some intronic variations and the development of disease. A new missense mutation, c.416 G>C that encodes Arg139Thr, could probably damage the protein structure and/or function and cause the signs and symptoms of DPLD., (Copyright© 2024 National Research Institute of Tuberculosis and Lung Disease.)

Background: An initial evaluation of non-small cell lung cancer (NSCLC) patients with 18F- fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) scan can modify treatment planning. We investigated the clinical significance of FDG PET/CT quantitative parameters (QPs) in NSCLC patients., Materials and Methods: We included 125 NSCLC patients for initial staging FDG PET/CT scan. The primary tumor (T), regional lymph node metastases (N), and distant metastases (M) were evaluated on FDG PET/CT images. QPs, including standard uptake value (SUVmax), metabolic tumor volume (MTV), and total lesion glycolysis (TLG) were calculated separately for each T, N, and M lesion and also for the whole body. Statistical analysis through SPSS version 22 was used to evaluate the clinical significance of PET/CT QPs concerning primary tumor pathology characteristics, initial tumor stage, and patient's prognosis., Results: We followed the patients for 19.28 (±11.42) months. Considering primary tumor pathology, there was a significant difference in FDG PET/CT QPs, including primary tumor SUVmax (p=0.00), metastases SUVmax (p=0.014), whole-body MTV (p=0.045), and whole-body TLG (p=0.002). There was also a significant difference in QPs, including primary tumor SUVmax (p=0.00) and regional lymph node metastases SUVmax (p=0.048) when accounting for tumor initial stage. There was a significant prognostic value for the whole-body TLG (p=0.01) and a cut-off point of 568 was reached to differentiate better versus worse survival outcome., Conclusion: We demonstrated a statistically significant difference in FDG PET/CT QPs when accounting for primary NSCLC pathology characteristics and initial stage, as well as patient's prognosis, and recommend incorporating QP values into clinical PET/CT reports., Competing Interests: Conflict of Interest Authors of this manuscript declare that there is no funding or conflict of interest for this work., (Copyright© 2020 National Research Institute of Tuberculosis and Lung Disease.)

Cardiac lipomas are extremely rare tumors of the heart. They are usually symptomatic and rarely may be found incidentally in autopsies. Here we describe a 23-year-old healthy man, in whose physical examination for employment a murmur was found incidentally. Transthoracic and then transesophageal echocardiographic examination showed a 4-cm oval-shaped mass in the right ventricular outflow tract. He underwent elective surgery, during which the tumor was removed under cardiopulmonary bypass and aortic-cross clamping via right atriotomy. The postoperative course was uneventful, and the patient was in good condition at 1 year's follow-up.

Background: Identification of gene rearrangements and clonality analysis are important techniques for the diagnosis of malignant lymphoproliferative diseases. These methods have various sensitivities based on the type of primer used and method of determination of polymerase chain reaction (PCR) products. This study aimed at determining the clonality of B cell non-Hodgkin lymphoma in Iranian patients using PCR method and 2 primers of FR2 and FR3., Materials and Methods: Paraffin embedded blocks of 67 patients with B cell lymphoma and 19 cases with lymphoid hyperplasia of the lymph nodes who presented to NRITLD, Masih Daneshvari Hospital were retrospectively reviewed. After extracting the genomic DNA using phenol and chloroform, clonal analysis was performed using semi-nested PCR by using two primers: FR2 and FR3. PCR products were determined using 2 techniques of heteroduplex analysis, polyacrylamide gel and silver staining and the conventional method of agarose gel and ethidium bromide staining. Appearance of 1 or 2 bands in the desired location were considered as a sign of clonality., Results: Monoclonal gene rearrangement was observed in 62 out of 67 patients (92.5%) as one or two discrete bands appeared within 60-120 base pairs (bp) and 200-300 bp range. Of the mentioned patients, 53 cases (79.1%) had FR2 and 51 (76.1%) had FR3 rearrangement. Heteroduplex analysis along with silver nitrate staining detected 3 out of the remaining 5 cases of lymphoma to be monoclonal. These cases had been reported negative by the conventional technique. In total, 65 out of 67 patients (97%) showed monoclonal gene rearrangement using both the abovementioned techniques. All hyperplasia cases were polyclonal by this method., Conclusion: Our study showed that evaluation and detection of clonality using PCR, FR2 and FR3 primers along with heteroduplex analysis is a rapid sensitive technique for the diagnosis of malignant lymphomas.

Neurilemmoma rarely develops in the biliary tree. Here, we report a 39-year-old Iranian woman with neurilemmoma in the extrahepatic bile duct presenting with progressively deepening jaundice. On the basis of clinical and radiological features, this tumor was initially suspected as Klatskin tumor. Histologically, the tumor was a typical neurilemmoma. Immunostaining showed that tumor cells were strongly and diffusely positive for S-100 protein, which supported the diagnosis of neurilemmoma. Neurilemmoma should be considered in the differential diagnosis of obstructive jaundice.