- Methylated DNA in Pancreatic Juice Distinguishes Patients With Pancreatic Cancer From Controls. [Journal Article]
- CGClin Gastroenterol Hepatol 2019 Jul 16
- CONCLUSIONS: We identified a group of 3 MDMs in pancreatic juice that identifies patients with pancreatic cancer with an AUROC value of 0.90, including patients with early-stage disease or advanced precancer. These DNA methylation patterns might be included in algorithms for early detection of pancreatic cancer, especially in high-risk cohorts. Further optimization and clinical studies are needed.
- A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. [Journal Article]
- EJEur J Med Genet 2019 Jul 16; :103730
- The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility, which were recently re-classified (2017 I…
The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility, which were recently re-classified (2017 International Classification). Most patients (>90%) with Classical Ehlers-Danlos syndrome (cEDS) have a mutation in the COL5A1 or COL5A2 genes encoding type V procollagen. A small number of patients with the p.Arg312Cys mutation in COL1A1 have been reported with overlapping features of both cEDS and vascular EDS (vEDS). In this report, we describe two patients from a large family with this mutation and clinical features consistent with cEDS without vascular complications. The proband presented with congenital hip dislocation (previously reported in one patient), the mother of the proband with multiple fractures in childhood, and dental defects (novel findings). The small number of patients reported with this mutation and proportion with vascular complications suggests that vascular surveillance should still be recommended.
- Interobserver agreement among expert pathologists on through-the-needle microforceps biopsy samples for evaluation of pancreatic cystic lesions. [Journal Article]
- GEGastrointest Endosc 2019 Jul 16
- CONCLUSIONS: Interobserver agreement between expert pathologists in the evaluation of TTNB samples from PCLs with worrisome feature was close to perfection for all the evaluated parameters, except the definitive diagnosis. When mucinous cystic lesions were compared versus all other diagnoses, the agreement became substantial, thus indicating that TTNB specimen can provide important information for PCLs management decisions.
- All-trans retinoic acid induces anti-tumor effects via STAT3 signaling inhibition in oral squamous cell carcinoma and oral dysplasia. [Journal Article]
- JOJ Oral Pathol Med 2019 Jul 19
- CONCLUSIONS: These findings suggested that ATRA induced anti-tumor effects and downregulated PD-L1 expression via STAT3 signaling inhibition in both OSCC and oral dysplasia. This article is protected by copyright. All rights reserved.
- Novel protective and risk loci in hip dysplasia in German Shepherds. [Journal Article]
- PGPLoS Genet 2019 Jul 19; 15(7):e1008197
- Canine hip dysplasia is a common, non-congenital, complex and hereditary disorder. It can inflict severe pain via secondary osteoarthritis and lead to euthanasia. An analogous disorder exists in huma…
Canine hip dysplasia is a common, non-congenital, complex and hereditary disorder. It can inflict severe pain via secondary osteoarthritis and lead to euthanasia. An analogous disorder exists in humans. The genetic background of hip dysplasia in both species has remained ambiguous despite rigorous studies. We aimed to investigate the genetic causes of this disorder in one of the high-risk breeds, the German Shepherd. We performed genetic analyses with carefully phenotyped case-control cohorts comprising 525 German Shepherds. In our genome-wide association studies we identified four suggestive loci on chromosomes 1 and 9. Targeted resequencing of the two loci on chromosome 9 from 24 affected and 24 control German Shepherds revealed deletions of variable sizes in a putative enhancer element of the NOG gene. NOG encodes for noggin, a well-described bone morphogenetic protein inhibitor affecting multiple developmental processes, including joint development. The deletion was associated with the healthy controls and mildly dysplastic dogs suggesting a protective role against canine hip dysplasia. Two enhancer variants displayed a decreased activity in a dual luciferase reporter assay. Our study identifies novel loci and candidate genes for canine hip dysplasia, with potential regulatory variants in the NOG gene. Further research is warranted to elucidate how the identified variants affect the expression of noggin in canine hips, and what the potential effects of the other identified loci are.
- MOLECULAR-BIOLOGICAL THYROID PROFILE DURING AUTOIMMUNE DISEASE - HASHIMOTO AND RIEDEL'S THYROIDITIS. [Journal Article]
- GMGeorgian Med News 2019; (290):116-120
- Investigated 62 sample of thyroid gland obtained after surgical intervention, including: HT (n=27), RT (n=9), Graves' disease (n=17) and papillary thyroid carcinoma (n = 10). The slides were studied …
Investigated 62 sample of thyroid gland obtained after surgical intervention, including: HT (n=27), RT (n=9), Graves' disease (n=17) and papillary thyroid carcinoma (n = 10). The slides were studied using classical histological and immunohistochemical methods: H&E, TTF1, TSH, S100-protein, CD56 and p63. Dispite of the histological and immunohistochemical heterogeneity of Thyroiditis HT and RT, the progressive involution of the glandular tissue with the replacement by the sever fibrosis, in some cases by the scar tissue is observed as damage sign. In Hashimoto thyroiditis, the foci of follicular epithelium dysplasia were determined, with p63 positive and CD56 negative reactions. Graves' disease is characterized by high TSH expression as well as lymphoproliferation with the formation of large fused nodules with germinative centers. With Riedel's thyroiditis, there is a moderate expression of TTF-1 in the stroma and capillary endotheliocytes, as well as diffuse-focal moderate expression of S100 protein in cells of neuroectodermal population. The reaction to malignant transformation markers - CD56 and p63 - in the tissue of Thyroid gland with Thyroiditis, Riedel was definitely negative.
- Monostotic Fibrous Dysplasia of the Lumbar Spine With Secondary Features of Solid Variant Aneurysmal Bone Cyst. [Journal Article]
- CPClin Pathol 2019 Jan-Dec; 12:2632010X19861109
- Fibrous dysplasia is a benign, mass-forming disease of bone composed of abnormal fibrous and osseous elements that can be accompanied by endocrine dysfunction, skin pigmentation, and intramuscular my…
Fibrous dysplasia is a benign, mass-forming disease of bone composed of abnormal fibrous and osseous elements that can be accompanied by endocrine dysfunction, skin pigmentation, and intramuscular myxomas. It is usually encountered as a solitary lesion in the tibia or femur but can develop in any bone and can be unifocal or multifocal. Difficulty arises when a solitary lesion is identified in an uncommon site or when there are prominent secondary changes, such as aneurysmal bone cyst (ABC). Molecular studies are available as an adjunct to histomorphology to aid distinction from other entities. GNAS mutations, present in greater than 70% of fibrous dysplasia cases, help in the distinction from primary ABC and low-grade osteosarcoma, which exhibit different molecular abnormalities. We report a case of monostotic fibrous dysplasia in a lumbar vertebral body with secondary change consisting of the solid variant of ABC.
- Monostotic craniofacial fibrous dysplasia: report of two cases with interesting histology. [Case Reports]
- ACAutops Case Rep 2019 Apr-Jun; 9(2):e2018092
- Fibrous dysplasia (FD) is a relatively rare osseous disease of unknown etiology, wherein the normal bone is replaced by collagen-rich tissue, comprising of fibroblasts and variably abundant immature …
Fibrous dysplasia (FD) is a relatively rare osseous disease of unknown etiology, wherein the normal bone is replaced by collagen-rich tissue, comprising of fibroblasts and variably abundant immature woven bone. Clinically, it may involve a single bone or multiple bones. It commonly arises in the jaw bone, skull, rib, and proximal femur. Those arising in the skull and the jaw are together termed "craniofacial fibrous dysplasia." The differential diagnosis at this location includes meningioma and metastatic carcinoma. In this report, we highlight two diagnostically challenging cases presenting with orbital swelling and headache as the main complaints. Our first case was misinterpreted as meningioma on intraoperative squash smear, and paraffin sections revealed characteristic features of FD. The second case highlights the morphological feature of non-specific cystic degeneration occurring in FD. Radiographs in such cases show cystic swelling, which is indicative of a secondary aneurysmal bone cyst.
- A case of spontaneous coronary artery dissection with early de novo recurrence. [Case Reports]
- JCJ Cardiol Cases 2019; 20(1):1-3
- Spontaneous coronary artery dissection (SCAD) is a relatively rare cause of acute coronary syndrome compared with atherosclerotic plaque rupture and predominantly occurs in young women. SCAD is assoc…
Spontaneous coronary artery dissection (SCAD) is a relatively rare cause of acute coronary syndrome compared with atherosclerotic plaque rupture and predominantly occurs in young women. SCAD is associated with various conditions, such as emotional stress, pregnancy, hormonal therapy, collagen diseases, fibromuscular dysplasia, or vasospasm. Long-term cardiovascular events are common including the recurrence of SCAD. We report a case of SCAD with de novo recurrence at only 4 days after the first attack. <Learning objectives: Spontaneous coronary artery dissection (SCAD) is a relatively rare cause of acute coronary syndrome (ACS) compared with atherosclerotic plaque rupture, but if young to middle-aged women develop ACS, a high suspicion of SCAD is warranted. Recurrence of SCAD is common with 4- to 10-year follow-up. However, SCAD recurred early as in our case.>.
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- Weiqi Decoction Attenuated Chronic Atrophic Gastritis with Precancerous Lesion through Regulating Microcirculation Disturbance and HIF-1α Signaling Pathway. [Journal Article]
- EBEvid Based Complement Alternat Med 2019; 2019:2651037
- CONCLUSIONS: WQD attenuated CAG with precancerous lesion through regulating gastric mucosal blood flow disturbance and HIF-1α signaling pathway.