Tracheobronchial amiloidosis

Sistemik tutulum olmadan lokalize pulmoner amiloidozis; nodüler parankimal opasiteler, diffüz parankimal opasiteler veya trakeobronşial amiloidozis (TBA) şeklinde görülebilmektedir. TBA daha ziyade erkeklerde, 5 veya 6. dekatta görülen bir durum olup, trakeobronşial ağaçtaki bening lezyonların %1 kadarıdır. TBA, immun globulin hafif zincirden oluşan amiloid materyelin submukozal plaklar ve/veya polipoid tümorler şeklinde birikimi ile karakterizedir ve ilerleyici hastalık sonucu hava yolu obstrüksiyonuna yol açabilir. Tedavide başlıca lazer eksiyonu olmak üzere tekrarlayan eksizyonel tedaviler açık cerrahiye tercih edilmektedir. Bu yazımızda lokalize TBA tanısı alan bir erkek olgu nadir görülmesi sebebi ile sunuldu.Localized pulmonary amyloidosis without systemic involvement differentiates as nodular parenchymal opacities, diffuse parenchymal opacities, or tracheobronchial amyloidosis (TBA). TBA is a condition mostly seen in males aged up to 50–60 years, accounting for approximately 1% of benign lesions in the tracheobronchial tree. TBA is characterized by the accumulation of the amyloid material comprising immunoglobulin light chain (AL), which are observed as submucosal plaques and/or polypoid tumors; progressive form of tracheobronchial amyloidosis can lead to airway obstruction. Repeated excisional treatments, mainly laser treatment is preferable to open surgery. Here, we have presented the case of a patient diagnosed with the rarely occurring localized TBA

COMMON VARIABLE IMMUNODEFICIENCY

Common variable immunodeficiency is the most commonly seen primary immune deficiency condition in adults, characterized by impaired B cell differentiation. The patient is diagnosed with common variable immunodeficiency by recurrent bacterial infections usually accompanied by chronic lung diseases, gastrointestinal/liver diseases, granulomatous diseases, autoimmunity, lymphoid hyperplasia, splenomegaly or malignancies. Serum IgG concentration is significantly low along with low IgA and/or IgM concentrations. Intravenous immunoglobulin (IVIG) is the first choice of treatment. Immunoglobulin treatment ameliorates recurrent infections and associated complications such as autoimmune diseases and pulmonary injury. The main cause of death in patients with common variable immunodeficiency is chronic lung diseases or malignancies, because acute bacterial infections is usually prevented by IVIG therapy

Chylothorax due to tuberculosis lymphadenitis

WOS:000408982500011PubMed ID: 28275756Chylothorax is a rare clinical condition characterized by high triglyceride and low cholesterol levels in milky pleural aspirate. Generally, it occurs through leakage of chyle as result of trauma or malignancy. Chylothorax due to tuberculous lymphadenitis is very rare clinical condition that has only been documented in a few cases. Although precise pathogenesis is not known, enlarged mediastinal and hilar lymph nodes are thought to be associated with opening of collateral anastomosis between thoracic duct and the azygos and intercostal veins by creating pressure on thoracic duct and cisterna chyli. Presently described is case of chylothorax thought to be due to compression from mediastinal tuberculous lymphadenitis, and which had complete remission after antituberculosis treatment

A rare cause of pleural effusion: adult onset Still's disease

Adult onset Stills disease is a rare systemic inflammatory disorder. At the onset of the disease sore throat, pharyngitis; which does not respond to antibiotics, one or two times peaking febrile episodes, marked salmoncolored rash on the trunk and extremities, arthralgia, arthritis, myalgia, fatigue, loss of appetite with nausea and weight loss; hepatosplenomegaly and lymphadenopathy can be seen. Among laboratory examinations levels of ferritin and other acute phase reactants distinctly rise, and neutrophilic leukocytosis; ANA and RF negativity are detected. Pleural and pericardial effusions, transient pulmonary infiltration, and rarely myocarditis can be seen during the course of the disease. Here we report a patient who was examined for fever of unknown origin and diagnosed with adult onset Stills disease which is a rare etiology of pleural effusion

Whipple's Disease: A Case Report

Objective: Whipple's disease is a very rare systemic infectious disease with an annual incidence of 3 in one million, which may be fatal if not diagnosed and treated appropriately. Clinical Presentation and Intervention: Herein we describe a 49-year-old patient admitted to the hospital with symptoms of severe malabsorption and diagnosed with Whipple's disease. The diagnosis was based on the histopathological findings of small intestine biopsies and PCR analysis. Conclusion: Whipple's disease should be kept in mind while dealing with patients with severe malabsorption, even in the absence of accompanying features of the disease

DAPSONE-INDUCED METHEMOGLOBINEMIA IN A PATIENT WITH WELLS SYNDROME: A CASE REPORT

Case: A 24 year old woman, was admitted to our outpatient clinic with common urticarial lesions after treatment with amoxicillin clavulanic acid. Lesions were annular, erythematous, indurated plaques with changing diameters.. A relapse was occured after oral methylprednisolone/cetirizine/topical mometasone treatment. After treatment resistance with hydroxychloroquine for 6 weeks, dapsone was started. On the 5th day of 2x100 mg dapsone treatment severe headache, dizziness, palpitations, fatigue, was considered methemoglobinemia: Dapsone induced methemoglobinemia was shown with 5.10 % methemoglobin level and followed up with supportive treatment

Cerebral Amyloid Angiopathy: A Case Report and Literature ...

Cerebral amyloid angiopathy (CAA) is a condition characterized by accumulation of amyloid-beta peptide in the walls of the small and medium-sized arteries of the brain and leptomeninges. This condition disrupts the structure of the vessel wall and makes it prone to bleeding. This is an important cause of intracerebral hemorrhage in elderly accompanying to Alzheimer’s disease or to a familial syndrome. Clinically, it usually presents with spontaneous lobar hemorrhage, as well as transient neurological signs, seizures, cognitive disorders, headache, incidental findings like microhaemorrhages and hemosiderosis observed on magnetic resonance (MR) imaging. Herein, we report a hypertensive patient diagnosed with CAA who presented with the complaints of balance disorder while walking. CAA should be suspected in patients with lobar hemorrhage aged 65 years and over. Surgical treatment should not be performed because it could worsen the condition. Clinical improvement can be expected from supportive management, monitoring hypertension, and steroid - immunosuppressive therapies

A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy

Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual disability, hypogonadism, and pituitary hypoplasia. To describe a new patient with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compare her clinical and molecular characteristics and pituitary functions with previously published patients. A 20-year-old female presented with severe growth, neuromotor, and developmental delay. Her weight, height, and head circumference were 5135 gr (-25.81 SDS), 68 cm (-16.17 SDS), and 34 cm (-17.03 SDS), respectively. She was prepubertal, and had dysmorphic facies, contractures, and spasticity in the extremities, and severe truncal hypotonia. There were no radiological signs of a skeletal dysplasia. The bone age was extremely delayed at 2 years. Investigation of pituitary function revealed growth hormone, prolactin, and thyroid-stimulating hormone deficiencies. Whole-exome sequencing revealed a novel homozygous missense (c.1328A > G; Y443C) variant in RNPC3. Cranial MRI revealed a hypoplastic anterior pituitary with diffuse cerebral and cerebellar atrophy. The Y443C variant in RNPC3 associated with syndromic congenital hypopituitarism and abnormal brain development. This report extends the RNPC3-related hypopituitarism phenotype with a severe neurodegenerative presentation

Serum 25-Hydroxy Vitamin D Levels in Patients with Acute Hepatitis (Ischemic, Toxic, and Viral): Association With Clinical Progression and Mortality

WOS: 000398932800005Objective: Vitamin D is a key regulator of calcium homeostasis and has anti-inflammatory and immunomodulatory effects. Active vitamin D has a direct effect on T cells and antigen-presenting cells. It also suppresses the differentiation of B cells to plasma cells and inhibits immunoglobulin production. Vitamin D supplementation is associated with a favorable outcome in chronic inflammatory diseases. In this study, we aimed to determine serum vitamin D levels in patients with acute toxic, ischemic, or viral hepatitis and whether the levels had an effect on clinical progression or mortality in patients with acute hepatitis. Methods: Forty-eight patients (26 men and 22 women) and 35 controls (16 men and 19 women) aged > 18 years who were diagnosed as having acute hepatitis and hospitalized in the Internal Medicine Department were enrolled. To determine serum 25-hydroxy (OH) vitamin D levels, two fasting blood samples, first in the initial 24-48 h following hospitalization and second on the day of discharge, were obtained from the participants. The SPSS Statistics v21.0 software was used for the quantitative evaluation of data. Results: Serum vitamin D levels were significantly lower in the patient group (10.0+/-8.7) than in the control group (31.5+/-12.2), but no significant difference was detected in serum vitamin D levels among the patients. Serum vitamin D levels, except in patients with viral hepatitis, were low at discharge. Serum vitamin D levels were lower than the cutoff values in two patients with early mortality. Conclusion: We demonstrated that serum vitamin D levels had no effect on clinical progression of acute hepatitis. Other prospective studies with large sample sizes are required to determine whether serum vitamin D levels can be used to predict clinical progression or mortality

Serum endotrophin levels in patients with heart failure with reduced and mid-range ejection fraction

Background: Endotrophin, a type VI collagen cleavage product, has fibrosis, and insulin resistance effects. Type VI collagen also plays a role in cardiac fibrosis. In this study, we aimed to investigate the role of endotrophin in the pathogenesis of cardiac fibrosis by determining its levels in patients with heart failure with reduced and mid-range ejection fraction (EF). We also aimed to determine the possible association between endotrophin and treatment that prevents ventricular fibrosis