ABSTRACT
Background@#Lung cancer is the leading cause of cancer death in both men and women. In the past decade, histopathological classification of lung cancer has become increasingly important in selecting the appropriate treatment.@*Methods@#All cases of lung cancer diagnosed pathologically in the last 2.5-year period were retrospectively identified at National Cancer Center and performed by descriptive case series design.@*Results@#The average age of our participants was 62, of which 82.2% were men. A total of 214 cases of lung cancer were reported, including 142 (66.4%) squamous cell carcinoma (SCC), 34 (16%) adenocarcinoma (AC), 4 (1.7%) NSCLC, 29 (13.6%) small cell carcinoma (SmCC) and 5 (2.3%) cases of other/unspecified type. Based on only morphology, initially 32 (17.7%) cases of NSCLC were diagnosed, whereas after immunohistochemistry (TTF-1 or NAPA positive/p63 negative, and vice versa) staining, this category reduced to 2.2%.@*Conclusions@#Among both males and females, SCC which is highly related to smoking was the most common histologic type of lung cancer. Our results showed that an approach of using only a two-antibody panel (p63 and TTF-1) might help in the reduction of diagnostic category of NSCLC-NOS significantly.
ABSTRACT
@#BACKGROUND. Spinal muscular atrophy (SMA MIM#253300) is a heterogeneous group of neuromuscular disorders caused by degeneration of anterior horn cells. Spinal muscular atrophy is the second most common autosomal recessive disorder. The first substantive descriptions of SMA occurred at the end of the 19th century when Werdnig and Hoffman characterized the features of autosomal recessive SMA. SMA is broadly classified into four major categories characterized by the age of onset as well as severity of the disease. Clinically proximal weakness, predominantly athropy, upper muscle athropy and other muscle weakness including of facial, scapula and respiratory were reported. SMA is inherited by X chromosomal, autosomal recessive and dominant mode. In our study, we recruited an individual diagnosed with SMA, without SMN1 gene mutation to investigate BICD2 mutation. Peripherial blood from the patient and his family members were taken to extract genomic DNA according to commercial protocol. Amplification of target gene was done by special primers. DNA sequencing was done to detect a mutation. As a result, we identified a mutation in location c.484 C>T of third exon of BICD2 gene. This mutation is was a heterozygous in mother’ and child’ DNA, SIFT and Polyphen program was used to detect its pathogenic effect. We also checked by Grantham matrix score is 180.0 representing it,s changing acid and alkaline feature in this amino acid. We diagnoses a suspected case with SMA by his clinical symptoms as a SMA type III, Kugelberg-Belander desease. We detected a mutation of BICD2 gene in a patient with SMA. This mutation altered acid and alkaline checked by Grantham matrix. This mutation has never reported before, showing 100% pathogenic effect on protein function, but because of highly penetrate feature of this disease makes its inheritance mode of autosomal dominant pattern.
ABSTRACT
Kidney transplantation is the best alternative treatment for end-stage renal disease and health-related quality of life and survival of the patients are improved compared with dialysis. Worldwide, more than 1.4 million patients with CKD receive renal replacement therapy with incidence growing by approximately 8% annually.1 Unfortunately, despite significant improvement in graft function, kidney transplants can still fail due to acute rejection and chronic allograft nephropathy.2 Kidney biopsy after transplantation, which has evaluated by Banff 09 classification is usefull method for diagnose of transplanted kidney disease.3,4Kidney graft rejection was diagnosed in 10 renal allograft biopsy specimens (bs) obtained from transplant patients followed up at our institute between 2015 and 2016. All specimens were evaluated as satisfactory which show more than 8 glomerulus under the light microscopy. Each renal cortical tissue was divided into two tips: one piece for routine H&E stain and special stains, including Masson’s trichrome, and PAS stain; another piece for immunofluorescence by frozen section, which were stained with IgA, IgM, IgG and complement component (C3, C4, C1q, C4d). All the renal biopsies were examined by the same pathologist.Out of 117 transplantations, 10 episodes of rejection selected. Among the 10 patients, 30% had an acute T cell rejection and 70% had a chronic allograft nephropathy. Interstitial inflammation (i1-7) was present in 7 bs (70%), tubulitis (t1-4,t2-2) in 6 bs (60%), transplant glomerulitis (g1-1, g2-2, g3-1) in 4 bs (40%), transplant interstitial fibrosis (ci1-2, ci2-2, ci3-2) in 6 bs (60%), tubular atrophy (ct1-6, ct2-2, ct3-1) in 9 bs (90%), mesangial matrix increase (mm1-5) in 5 bs (50%), vascular fibrosis intimal thickeness (cv1-3) in 3 bs (30%), arteriolar hyaline thickening (ah1-5) in 5 bs (50%), tubulitis (ti1-6, ti2-3, ti3-1) in 10 bs (100%) and peritubular capillaritis (ptc1-1, ptc2-2, ptc3-1) in 4 bs (40%). C4d deposition was present very mild in wall of the vessels and peritubular capillaries. Because of not good working Methenamin silver stain, we couldn’t demostrate glomerular basement membrane changes (cg) fully.We suggest that histopathological changes of transplant glomerulopathy might be accompanied by inflammation of the microvasculature, such as transplant glomerulitis and peritubular capillaritis. C4d deposition in the wall of the vessels and peritubular capillaritis is not always present in biopsy specimens of transplant glomerulopathy.