scholarly journals HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?

2008 ◽  
Vol 52 (8) ◽  
pp. 1211-1220 ◽  
Author(s):  
Leticia G. Silveira ◽  
Eduardo P. Dias ◽  
Bruna C. G. Marinho ◽  
Ricardo S. Gomez ◽  
Luiz De Marco ◽  
...  
Keyword(s):  
Surgical Approach ◽  
Direct Sequencing ◽  
Immunohistochemical Analysis ◽  
Surgical Approaches ◽  
Rt Pcr ◽  
Subtotal Parathyroidectomy ◽  
High Prevalence ◽  
Exon 1 ◽  
Aggressive Surgical Approach ◽  
Hrpt2 Gene

It is still debatable which is the best management to familial forms of hyperparathyroidism. Conservative, minimally invasive or aggressive surgical approaches have been proposed from different groups around the world. Our objective was to study the gene mutation, expression of HRPT2 and the clinical outcome after 32 years of follow-up in one Brazilian kindred with familial isolated hyperparathyroidism (FIHP). Clinical and biochemical data, direct sequencing of the HRPT2 gene, analysis of parafibromin expression using RT-PCR, and immunohistochemistry were done. A nonsense mutation was found in exon 1 (c.96G>A)(p.Trp32X) in all affected members studied. Using RT-PCR, mRNA transcription was altered with complete absence of both transcripts in tumor tissue. Immunohistochemical analysis of tumors showed loss of parafibromin immunoreactivity. In this kindred there was a high prevalence of recurrence (75%), or persistence after less than subtotal parathyroidectomy that led us to consider a more aggressive surgical approach should be discussed among the affected family members, once surgical criteria was met. We concluded that it is necessary to individualize the surgical approach for HRPT2-related hyperparathyroidism until we can gather a better phenotype-genotype correlation in larger series, to best define their treatment.

Expression of Platelet Membrane Glycoprotein V in Human Megakaryocytes and Megakaryocytic Cell Lines: A Study Using a Novel Monoclonal Antibody against GPV

1994 ◽  
Vol 72 (05) ◽  
pp. 762-769 ◽  
Author(s):  
Toshiro Takafuta ◽  
Kingo Fujirmura ◽  
Hironori Kawano ◽  
Masaaki Noda ◽  
Tetsuro Fujimoto ◽  
...  
Keyword(s):  
Monoclonal Antibody ◽  
Cell Lines ◽  
Immunohistochemical Analysis ◽  
Specific Protein ◽  
Platelet Membrane ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Flow Cytometric ◽  
Polymerase Chain ◽  
Megakaryocytic Cell

SummaryGlycoprotein V (GPV) is a platelet membrane protein with a molecular weight of 82 kD, and one of the leucine rich glycoproteins (LRG). By reverse transcription-polymerase chain reaction (RT-PCR), GPV cDNA was amplified from mRNA of platelets and megakaryocytic cell lines. However, since there are few reports indicating whether GPV protein is expressed in megakaryocytes as a lineage and maturation specific protein, we studied the GPV expression at the protein level by using a novel monoclonal antibody (1D9) recognizing GPV. Flow cytometric and immunohistochemical analysis indicated that GPV was detected on the surface and in the cytoplasm of only the megakaryocytes in bone marrow aspirates. In a megakaryocytic cell line UT-7, GPV antigen increased after treatment with phorbol-12-myri-state-13-acetate (PMA). These data indicate that only megakaryocytes specifically express the GPV protein among hematopoietic cells and that the expression of GPV increases with differentiation of the megakaryocyte as GPIb-IX complex.

Revising the Indications of Transtemporal Surgical Approaches in the Modern Endoscopic Era of Skull Base Surgery: A Dying Art

2020 ◽  
Author(s):  
Ravi Sankar Manogaran ◽  
Raj Kumar ◽  
Arulalan Mathialagan ◽  
Anant Mehrotra ◽  
Amit Keshri ◽  
...  
Keyword(s):  
Skull Base ◽  
Surgical Approach ◽  
Nerve Palsy ◽  
Tertiary Care ◽  
Surgical Approaches ◽  
Microsurgical Anatomy ◽  
Complete Excision ◽  
Lateral Skull Base ◽  
The Individual ◽  
Selection Of

Abstract Objectives The aim of the study is to emphasize and explore the possible transtemporal approaches for spectrum of complicated lateral skull base pathologies. Design Retrospective analysis of complicated lateral skull base pathologies was managed in our institute between January 2017 and December 2019. Setting The study was conducted in a tertiary care referral center. Main Outcome Measures The study focused on the selection of approach based on site and extent of the pathology, the surgical nuances for each approach, and the associated complications. Results A total of 10 different pathologies of the lateral skull base were managed by different transtemporal approaches. The most common complication encountered was facial nerve palsy (43%, n = 6). Other complications included cerebrospinal fluid (CSF) collection (15%, n = 2), cosmetic deformity (24%, n = 4), petrous internal carotid artery injury (7%, n = 1), and hypoglossal nerve palsy (7%, n = 1). The cosmetic deformity included flap necrosis (n = 2) and postoperative bony defects leading to contour defects of the scalp (n = 2). Conclusion Surgical approach should be tailored based on the individual basis, to obtain adequate exposure and complete excision. Selection of appropriate surgical approach should also be based on the training and preference of the operating surgeon. Whenever necessary, combined surgical approaches facilitating full tumor exposure are recommended so that complete tumor excision is feasible. This requires a multidisciplinary team comprising neurosurgeons, neuro-otologist, neuroanesthetist, and plastic surgeons. The surgeon must know precise microsurgical anatomy to preserve the adjacent nerves and vessels, which is necessary for better surgical outcomes.

scholarly journals Transcriptional Pausing and Activation at Exons-1 and -2, Respectively, Mediate the MGMT Gene Expression in Human Glioblastoma Cells

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 888
Author(s):  
Mohammed A. Ibrahim Al-Obaide ◽  
Kalkunte S. Srivenugopal
Keyword(s):  
Dna Methyltransferase ◽  
Glioblastoma Cells ◽  
Rt Pcr ◽  
Repair Gene ◽  
Exon 2 ◽  
Mgmt Gene ◽  
Dna Repair Gene ◽  
Exon 1 ◽  
Transcriptional Pausing ◽  
Transcription Assays

Background: The therapeutically important DNA repair gene O6-methylguanine DNA methyltransferase (MGMT) is silenced by promoter methylation in human brain cancers. The co-players/regulators associated with this process and the subsequent progression of MGMT gene transcription beyond the non-coding exon 1 are unknown. As a follow-up to our recent finding of a predicted second promoter mapped proximal to the exon 2 [Int. J. Mol. Sci.2021, 22(5), 2492], we addressed its significance in MGMT transcription. Methods: RT-PCR, RT q-PCR, and nuclear run-on transcription assays were performed to compare and contrast the transcription rates of exon 1 and exon 2 of the MGMT gene in glioblastoma cells. Results: Bioinformatic characterization of the predicted MGMT exon 2 promoter showed several consensus TATA box and INR motifs and the absence of CpG islands in contrast to the established TATA-less, CpG-rich, and GAF-bindable exon 1 promoter. RT-PCR showed very weak MGMT-E1 expression in MGMT-proficient SF188 and T98G GBM cells, compared to active transcription of MGMT-E2. In the MGMT-deficient SNB-19 cells, the expression of both exons remained weak. The RT q-PCR revealed that MGMT-E2 and MGMT-E5 expression was about 80- to 175-fold higher than that of E1 in SF188 and T98G cells. Nuclear run-on transcription assays using bromo-uridine immunocapture followed by RT q-PCR confirmed the exceptionally lower and higher transcription rates for MGMT-E1 and MGMT-E2, respectively. Conclusions: The results provide the first evidence for transcriptional pausing at the promoter 1- and non-coding exon 1 junction of the human MGMT gene and its activation/elongation through the protein-coding exons 2 through 5, possibly mediated by a second promoter. The findings offer novel insight into the regulation of MGMT transcription in glioma and other cancer types.

Detection and characterisation of hepatitis E virus in naturally infected swine in Croatia

2013 ◽  
Vol 61 (4) ◽  
pp. 517-528 ◽  
Author(s):  
Zoran Lipej ◽  
Dinko Novosel ◽  
Lea Vojta ◽  
Besi Roić ◽  
Miljenko Šimpraga ◽  
...  
Keyword(s):  
Hepatitis E Virus ◽  
Age Groups ◽  
Hepatitis E ◽  
Health Concern ◽  
Rt Pcr ◽  
Animal Reservoir ◽  
Naturally Occurring ◽  
High Prevalence ◽  
Swine Herds ◽  
Bile Samples

Hepatitis E is a viral zoonotic disease infecting swine worldwide. Since pigs represent a likely animal reservoir for the hepatitis E virus, the epidemiology of naturally occurring hepatitis E was investigated in Croatian swine herds. Nearly all tested animals were seropositive for antibodies against the hepatitis E virus (55/60, 91.7%). Active infection was detected in all age groups by RT-PCR of viral RNA in serum (8/60, 13.3%) and bile samples (3/37, 8.1%), which was further confirmed by histopathological findings of characteristic lesions in the livers of the infected animals. Three new strains of hepatitis E virus were isolated from Croatian pig herds. Phylogenetic analysis using median-joining networks clustered those Croatian strains with isolates from various parts of the world, indicating their likely origin in international trade. Similarity to human isolates implies a zoonotic potential of Croatian strains, which raises a public health concern, especially in the light of the high prevalence of hepatitis E in the herds studied.

Increased expression of collagen-binding heat shock protein 47 in murine bleomycin-induced pneumopathy

2003 ◽  
Vol 285 (4) ◽  
pp. L957-L963 ◽  
Author(s):  
Hiroshi Ishii ◽  
Hiroshi Mukae ◽  
Tomoyuki Kakugawa ◽  
Tetsuji Iwashita ◽  
Hideyuki Kaida ◽  
...  
Keyword(s):  
Heat Shock ◽  
Pulmonary Fibrosis ◽  
Heat Shock Protein ◽  
Smooth Muscle Actin ◽  
Protein A ◽  
Immunohistochemical Analysis ◽  
Rt Pcr ◽  
Heat Shock Protein 47 ◽  
Positive Type ◽  
Fibrotic Process

The 47-kDa heat shock protein 47 (HSP47) is a collagen-specific molecular chaperone that has been shown to play a major role during the processing and/or secretion of procollagen. Expression of HSP47 has been reported to increase in parallel with expression of collagens during the progression of various fibrosis models. The aim of the present study was to investigate the association between HSP47 expression and collagen accumulation in bleomycin (BLM)-induced murine fibrosis. We investigated the expression of HSP47 protein and mRNA using immunohistochemical analysis and semi-quantitative RT-PCR in murine BLM-induced pulmonary fibrosis. Immunohistochemical analysis showed that higher expression of HSP47 protein was present in BLM-induced pulmonary fibrosis compared with controls. HSP47 was localized predominantly in α-smooth muscle actin-positive myofibroblasts, F4/80 negative, surfactant protein-A-positive type II pneumocytes, and F4/80-positive macrophages. RT-PCR also demonstrated an increase of HSP47 mRNA expression in BLM-treated lungs. Moreover, the relative amounts of HSP47 mRNA correlated significantly with the lung hydroxyproline content as an indicator of pulmonary fibrosis in BLM-treated lungs ( r = 0.406, P <0.05). Our results suggest that these cells may play a role in the fibrotic process of BLM-treated lungs through upregulation of HSP47.

scholarly journals Oligometastatic Growing Teratoma Syndrome: A Case for an Aggressive Surgical Approach

2015 ◽  
Vol 9 (3) ◽  
pp. 163-165 ◽  
Author(s):  
William S. Gange ◽  
Robert H. Blackwell ◽  
John Biemer ◽  
Güliz A. Barkan ◽  
Maria M. Picken ◽  
...  
Keyword(s):  
Surgical Approach ◽  
Clinical Stage ◽  
Mature Teratoma ◽  
Disease Free Survival ◽  
Testicular Germ Cell Tumor ◽  
Testicular Germ Cell ◽  
Growing Teratoma Syndrome ◽  
Aggressive Surgical Approach ◽  
Metastatic Sites

Growing teratoma syndrome is an infrequent presentation of testicular cancer. We present a case of growing teratoma syndrome in a patient who initially presented with clinical stage I nonseminomatous testicular germ cell tumor, who subsequently developed large volume oligometastases to the retroperitoneum, thorax, and thigh. Despite two regimens of chemotherapy, his disease progressed. Complete surgical extirpation of all gross tumors confirmed mature teratoma. An aggressive surgical approach, including postchemotherapy resection of all known metastatic sites, can provide long-term disease-free survival.

scholarly journals A Study of Vascular Injuries in Pediatric Supracondylar Humeral Fractures

2001 ◽  
Vol 9 (2) ◽  
pp. 37-40 ◽  
Author(s):  
Ritabh Kumar ◽  
Vivek Trikha ◽  
Rajesh Malhotra
Keyword(s):  
Vascular Injury ◽  
Surgical Approach ◽  
Open Reduction Internal Fixation ◽  
Vascular Injuries ◽  
Supracondylar Fractures ◽  
Satisfactory Outcome ◽  
Vascular Compromise ◽  
Supracondylar Humeral Fractures ◽  
Aggressive Surgical Approach ◽  
Grade Iii

194 children with supracondylar fractures of the humerus were reviewed. Of the 49 children with Gartland grade III displacement, signs of vascular compromise were clinically suspected in 5 cases. Immediate open reduction, internal fixation and exploration were performed. Four children had a satisfactory outcome. One child required amputation. A careful clinical evaluation for vascular injury and an aggressive surgical approach is suggested, when indicated.

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