Granulomatous glomerulonephritis, without systemic disorder

1978 ◽  
Vol 381 (1) ◽  
pp. 111-119
Author(s):  
J. Szab� ◽  
I. Bir� ◽  
T. T�th ◽  
I. Worum ◽  
Gy. Velok
Keyword(s):  
Systemic Disorder

scholarly journals AB0008 THE IMPACT OF STAT4 RS7574865, IL6 RS1800795, IL6R RS2228145 AND RS4845618 ON RHEUMATOID ARTHRITIS SUSCEPTIBILITY IN BELARUSIAN POPULATION

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1307.1-1308
Author(s):  
E. Siniauskaya ◽  
T. Kuzhir ◽  
V. Yagur ◽  
R. Goncharova
Keyword(s):  
Rheumatoid Arthritis ◽  
Blood Donors ◽  
Genetic Model ◽  
Online Tool ◽  
Genotype Frequencies ◽  
Systemic Disorder ◽  
Autoimmune Pathogenesis ◽  
The Impact ◽  
Arthritis Susceptibility

Background:Rheumatoid arthritis (RA) is a chronic systemic disorder of the connective tissue of still unknown aetiology and complex autoimmune pathogenesis that primarily affects small joints. HLA alleles provide for 11-37% of the RA heritability, suggesting the substantial role of the non-HLA loci in genetic predisposition to RA. Among non-HLA loci,IL6, IL6RandSTAT4genes attract attention, however, the data concerning their influence on RA risk are somewhat contradictory.Objectives:The aim of the study was to analyze the involvement of four SNPs (STAT4rs7574865,IL6rs1800795,IL6Rrs2228145 and rs4845618) in RA susceptibility.Methods:187 patients diagnosed with RA (mean age 58.2 ± 11.9), and 380 healthy blood donors (mean age 37.18 ± 10.69 years) were included into the study. DNA extraction from peripheral blood samples was performed using the phenol-chloroform method. SNPs were genotyped using the real-time PCR with fluorescent probes. The allele and genotype frequencies were compared using the χ2 test. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using the VassarStats online tool.Results:Utilizing recessive genetic model we found an association between TT genotype ofSTAT4rs7574865 (OR = 2.362; 95%CI [1.0378 – 5.376], p = 0.038) and RA. ForIL6rs1800795, it was found that CC genotype had significantly higher frequency among patients with rheumatoid arthritis as compared to that in controls (OR = 1.52; 95%CI [1.02 – 2.27], p = 0.0456). No associations ofIL6Rrs2228145 and rs4845618 SNPs with risk of RA were found in the total group of patients vs. controls. It was also shown thatIL6rs1800795 CC genotype frequency was significantly higher among the patients with RF-negative status (p = 0.0019).Conclusion:Thus, we provide evidence for association of theSTAT4rs7574865 andIL6rs1800795 variants with risk of RA in the Belarusian population, some features of interplay being revealed between gene polymorphisms analyzed and RA antibody status. Abovementioned SNPs may contribute to RA genetic susceptibility in the Belarusian population.Disclosure of Interests:None declared

scholarly journals De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

2021 ◽  
pp. jmedgenet-2020-107427
Author(s):  
Aviel Ragamin ◽  
Carolina C Gomes ◽  
Karen Bindels-de Heus ◽  
Renata Sandoval ◽  
Angelia V Bassenden ◽  
...  
Keyword(s):  
Giant Cell ◽  
De Novo ◽  
Neuromuscular Disorders ◽  
Somatic Mosaicism ◽  
Ion Leakage ◽  
Gain Of Function ◽  
Therapeutic Modalities ◽  
Organ Systems ◽  
Heterozygous Variant ◽  
Systemic Disorder

BackgroundPathogenic germline variants in Transient Receptor Potential Vanilloid 4 Cation Channel (TRPV4) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4, at Met713.MethodsHere we report two unrelated women with a de novo germline p.Leu619Pro TRPV4 variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies.ResultsFrom an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the TRPV4 p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage.ConclusionOur findings define a novel polysystemic syndrome due to germline TRPV4 p.Leu619Pro and further extend the spectrum of TRPV4 channelopathies. They further highlight the convergence of TRPV4 mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs.

scholarly journals Upregulated Expression of Activation-Induced Cytidine Deaminase in Ocular Adnexal Marginal Zone Lymphoma with IgG4-Positive Cells

2021 ◽  
Vol 22 (8) ◽  
pp. 4083
Author(s):  
Asami Nishikori ◽  
Yoshito Nishimura ◽  
Rei Shibata ◽  
Koh-ichi Ohshima ◽  
Yuka Gion ◽  
...  
Keyword(s):  
Marginal Zone ◽  
Somatic Hypermutation ◽  
Cytidine Deaminase ◽  
Marginal Zone Lymphoma ◽  
Immunoglobulin G4 ◽  
Intensity Index ◽  
Activation Induced Cytidine Deaminase ◽  
Systemic Disorder ◽  
Lymphoplasmacytic Infiltration ◽  
Ophthalmic Disease

Immunoglobulin G4-related disease (IgG4-RD) is a systemic disorder characterized by tissue fibrosis and intense lymphoplasmacytic infiltration, causing progressive organ dysfunction. Activation-induced cytidine deaminase (AID), a deaminase normally expressed in activated B-cells in germinal centers, edits ribonucleotides to induce somatic hypermutation and class switching of immunoglobulin. While AID expression is strictly controlled under physiological conditions, chronic inflammation has been noted to induce its upregulation to propel oncogenesis. We examined AID expression in IgG4-related ophthalmic disease (IgG4-ROD; n = 16), marginal zone lymphoma with IgG4-positive cells (IgG4+ MZL; n = 11), and marginal zone lymphoma without IgG4-positive cells (IgG4- MZL; n = 12) of ocular adnexa using immunohistochemical staining. Immunohistochemistry revealed significantly higher AID-intensity index in IgG4-ROD and IgG4+ MZL than IgG4- MZL (p < 0.001 and = 0.001, respectively). The present results suggest that IgG4-RD has several specific causes of AID up-regulation in addition to inflammation, and AID may be a driver of oncogenesis in IgG4-ROD to IgG4+ MZL.

scholarly journals Incidence of Characteristic Findings during Veterinary Carcass Inspections 2010–2019 in the Czech Republic and the Relation to the Level of Health and Welfare of Individual Classes of Cattle

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 537
Author(s):  
Michal Kaluza ◽  
Vladimir Vecerek ◽  
Eva Voslarova ◽  
Zbynek Semerad ◽  
Annamaria Passantino
Keyword(s):  
Czech Republic ◽  
Health Issues ◽  
Pathological Findings ◽  
Pathological Changes ◽  
Great Intensity ◽  
The Czech Republic ◽  
Stunted Growth ◽  
Liver And Pancreas ◽  
Systemic Disorder ◽  
The Individual

Pathological findings in individual classes of cattle were assessed from the viewpoint of their localization and category. The objective of the study was to evaluate whether there are differences in the range and number of findings made between the individual classes of cattle. The results of veterinary inspections on 2,514,666 head of cattle slaughtered in the Czech Republic in the period 2010–2019 were used for the assessment. In terms of localization, the most frequent findings in cows were in the liver and pancreas (46.13%), the urinary tract (40.76%) and the lungs (36.23%). These findings also predominated in heifers and bulls, though they were recorded at lower frequencies (p < 0.01) than in cows. The most frequent pathological changes in heifers and bulls were chronic findings in the lungs (16.09% and 12.27%, respectively). The range of findings in calves differed significantly from other classes of cattle, primarily as the result of respiratory and diarrheal syndrome being the most frequent diseases in calves. Calves were the class of cattle most frequently diagnosed with findings in the lungs (44.89%), as well as other unclassified changes (24.43%) and overall changes (21.55%), which point to a systemic disorder of the organism. The results of this study confirmed the differing states of health in the individual classes of cattle and the differing health issues to which treatment and the prevention of the most frequently occurring infectious and non-infectious diseases must be adapted. Cattle welfare is affected not only by the level of health but also by the herd management and economics. This is confirmed by the range of findings, and the deterioration of living conditions especially in cows, likely because of great intensity of farming, but also in calves which suffered from emaciation or stunted growth.

scholarly journals Panniculitis in Children

2021 ◽  
Vol 8 (3) ◽  
pp. 315-336
Author(s):  
Isabelle Moulonguet ◽  
Sylvie Fraitag
Keyword(s):  
Clinical Presentation ◽  
Inflammatory Diseases ◽  
Secondary Process ◽  
Immune Disorders ◽  
Lesion Site ◽  
Heterogenous Group ◽  
Systemic Disorder ◽  
Diagnosis And Classification ◽  
Subcutaneous Adipose

Panniculitides form a heterogenous group of inflammatory diseases that involve the subcutaneous adipose tissue. These disorders are rare in children and have many aetiologies. As in adults, the panniculitis can be the primary process in a systemic disorder or a secondary process that results from infection, trauma or exposure to medication. Some types of panniculitis are seen more commonly or exclusively in children, and several new entities have been described in recent years. Most types of panniculitis have the same clinical presentation (regardless of the aetiology), with tender, erythematous subcutaneous nodules. Although the patient’s age and the lesion site provide information, a histopathological assessment is sometimes required for a definitive diagnosis and classification of the disorder. In children, most panniculitides are lobular. At present, autoimmune inflammatory diseases and primary immunodeficiencies have been better characterised; panniculitis can be the presenting symptom in some of these settings. Unexplained panniculitis in a young child should prompt a detailed screen for monogenic immune disorders because the latter usually manifest themselves early in life. Here, we review forms of panniculitis that occur primarily in children, with a focus on newly described entities.

Direct ophthalmoscopy for the acute physicia – papilloedema and other abnormalities of the optic nerve head

2002 ◽  
Vol 1 (2) ◽  
pp. 60-63
Author(s):  
B Edmunds ◽  
◽  
P J Francis ◽  
Keyword(s):  
Optic Nerve ◽  
Optic Nerve Head ◽  
Visual Disturbance ◽  
Medical Setting ◽  
Altered Level ◽  
Level Of Consciousness ◽  
Systemic Disorder ◽  
Systemic Examination ◽  
Direct Ophthalmoscopy

Direct ophthalmoscopy is an essential part of the full systemic examination. However, the technique is challenging and time-consuming. In the acute medical setting therefore, it is advisable for the physician to identify the subgroup of patients in whom examination of the fundus is most likely to be helpful. Ophthalmoscopy should be performed where papilloedema is suspected, in those with an altered level of consciousness or other focal neurology, those with an unknown systemic disorder, and those complaining of visual disturbance.

scholarly journals Blue rubber bleb nevus syndrome: case report

2003 ◽  
Vol 58 (2) ◽  
pp. 109-112 ◽  
Author(s):  
Magaly Gemio Teixeira ◽  
Marcos Vinicius Perini ◽  
Carlos Frederico S. Marques ◽  
Angelita Habr-Gama ◽  
Desidério Kiss ◽  
...  
Keyword(s):  
Reliable Method ◽  
Intestinal Resection ◽  
Blood Transfusions ◽  
Effective Management ◽  
Effective Technique ◽  
Chronic Anemia ◽  
Systemic Disorder ◽  
Multiple Blood ◽  
Acquired Immunodeficiency ◽  
Immunodeficiency Syndrome

The case of a patient with blue rubber bleb nevus syndrome who is infected by acquired immunodeficiency syndrome virus due to multiple blood transfusions is presented. This case shows that although it is a rare systemic disorder, blue rubber bleb nevus syndrome has to be considered in the differential diagnosis of chronic anemia or gastrointestinal bleeding. Patients should be investigated by endoscopy, which is the most reliable method for detecting these lesions. The patient underwent gastroscopy and enteroscopy via enterotomy with identification of all lesions. Minimal resection of the larger lesions and string-purse suture of the smaller ones involving all the layers of the intestine were performed. The string-purse suture of the lesions detected by enteroscopy proved to be an effective technique for handling these lesions, avoiding extensive intestinal resection and stopping the bleeding. Effective management of these patients demands aggressive treatment and should be initiated as soon as possible to avoid risks involved in blood transfusions, as occurred in this case.

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