scholarly journals Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
P. Vaganovs ◽  
K. Bokums ◽  
E. Miklaševics ◽  
J. Plonis ◽  
L. Zarina ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Clinical Symptoms ◽  
Malignant Tumors ◽  
Clinical Investigation ◽  
Pathological Condition ◽  
Von Hippel Lindau ◽  
Magnetic Resonance Imaging Mri ◽  
Loss Of Appetite ◽  
Concentration Loss ◽  
Syncope Episode

Introduction. Von Hippel-Lindau (VHL) syndrome is a pathological condition that causes various clinical symptoms and is difficult to diagnose. The most common pathological lesions are hemangioblastomas of the central nervous system, retinal angiomas, renal clear cell carcinomas, and pheochromocytomas.Case Report. A 23-year-old female had a syncope episode in 2008. Magnetic resonance imaging (MRI) revealed a right temporal hemangioblastoma, which was treated surgically. Genetic screening identified a VHL gene mutation, and computed tomography (CT) revealed a left adrenal mass. Since it was unclear whether the mass was a pheochromocytoma, or another benign or malignant tumors, laparoscopic adrenalectomy was performed. A month after surgery, the patient complained of general fatigue, poor concentration, loss of appetite, and insomnia. After careful clinical investigation, the patient was referred to a psychiatrist due to suspected depression, which was confirmed.Conclusions. VHL genetic screening should be performed in cases of hemangioblastoma. In VHL syndrome cases, pheochromocytoma cannot always be diagnosed by biochemical catecholamine analyses; therefore, CT or MRI scanning of the abdomen must be performed. Due to the long treatment period, some patients may develop episodes of depression, which can simulate VHL syndrome.

Magnetic resonance imaging of the gallbladder: spectrum of abnormalities

2007 ◽  
Vol 48 (5) ◽  
pp. 476-482 ◽  
Author(s):  
K. M. Elsayes ◽  
E. P. Oliveira ◽  
V. R. Narra ◽  
F. M. EL-Merhi ◽  
J. J. Brown
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Clinical Symptoms ◽  
Malignant Tumors ◽  
Gallbladder Wall ◽  
Diagnostic Study ◽  
Resonance Imaging ◽  
Mr Cholangiopancreatography ◽  
Tissue Contrast ◽  
Magnetic Resonance Imaging Mri

Various pathologies involving the gallbladder can manifest clinically, producing nonspecific clinical symptoms and making diagnosis difficult and challenging. Real-time sonography is the most widely used diagnostic study for the gallbladder and the primary screening examination of choice. With increasing use of magnetic resonance imaging (MRI) and MR cholangiopancreatography (MRCP), gallbladder pathology is frequently seen. Understanding the basic patterns of various disease manifestations and appearance on MRI is the key to making an accurate diagnosis. Given its inherent tissue contrast and contrast sensitivity, MRI in conjunction with MRCP can be a very valuable test in evaluating gallbladder pathology. Gallbladder pathology can be classified into congenital (such as absence), inflammatory (acute, hemorrhagic, and chronic cholecystitis), traumatic, benign (polyps) and malignant tumors (gallbladder carcinoma and lymphoma), and other disease processes can be seen in cholelithiasis, cholesterosis, thickened gallbladder wall, and Mirrizzi syndrome.

scholarly journals Clinical Syndromes and Genetic Screening Strategies of Pheochromocytoma and Paraganglioma

2018 ◽  
Vol 5 (4) ◽  
pp. 14-22 ◽  
Author(s):  
Peihua Liu ◽  
Minghao Li ◽  
Xiao Guan ◽  
Anze Yu ◽  
Qiao Xiao ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Chromaffin Cells ◽  
Multiple Endocrine Neoplasia ◽  
Clinical Symptoms ◽  
Clinical Syndrome ◽  
Biochemical Tests ◽  
Von Hippel Lindau ◽  
Clinical Syndromes ◽  
Screening Strategies ◽  
Genetic Abnormalities

Pheochromocytomas (PCCs) are rare neuroendocrine tumors that originate from chromaffin cells of the adrenal medulla, and paragangliomas (PGLs) are extra-adrenal pheochromocytomas. These can be mainly found in clinical syndromes including multiple endocrine neoplasia (MEN), von Hippel–Lindau (VHL) syndrome, neurofibromatosis-1 (NF-1) and familial paraganglioma (FPGL). PCCs and PGLs are thought to have the highest degree of heritability among human tumors, and it has been estimated that 60% of the patients have genetic abnormalities. This review provides an overview of the clinical syndrome and the genetic screening strategies of PCCs and PGLs. Comprehensive screening principles and strategies, along with specific screening based on clinical symptoms, biochemical tests and immunohistochemistry, are discussed.

Predicting progression in the late onset frontal lobe syndrome

2018 ◽  
Vol 31 (5) ◽  
pp. 743-748 ◽  
Author(s):  
Flora T. Gossink ◽  
Everard Vijverberg ◽  
Welmoed Krudop ◽  
Philip Scheltens ◽  
Max L. Stek ◽  
...  
Keyword(s):  
Frontal Lobe ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Clinical Syndrome ◽  
Clinical Markers ◽  
Neuropsychological Profile ◽  
Stereotypical Behavior ◽  
Executive Deficits ◽  
Magnetic Resonance Imaging Mri ◽  
Frontal Lobe Syndrome

ABSTRACTA late onset frontal lobe syndrome (LOF) refers to a clinical syndrome with apathy, disinhibition, or stereotypical behavior arising in middle or late adulthood. Diagnostics are challenging, and both clinicians and patients need reliable predictors of progression to improve clinical guidance. In this longitudinal multicenter and genetically screened prospective study, 137 LOF patients with frontal behavior (FBI score≥11) and/or stereotypical behavior (SRI≥10) were included. Progression was defined as institutionalization, death, or progression of frontal or temporal atrophy at magnetic resonance imaging (MRI) after two years of follow up. Absence of progression at MRI in addition to stable or improved Mini Mental State Examination and Frontal Assessment Battery scores after two years was indicative for non-progression. The presence of stereotypy and a neuropsychological profile with executive deficits at baseline were found to be predictive for progression, while a history and family history with psychiatric disorders were predictors for non-progression. The combination of these clinical markers had a predictive value of 80.4% (p < 0.05). In patients presenting with late onset behavioral symptoms, an appraisal of the rate of deterioration can be made by detailed mapping of clinical symptoms. Distinction of progressive discourses from non-progressive or treatable conditions is to be gained.

Clinical Features and Endolymphatic Hydrops in Patients With MRI Evidence of Hydrops

2018 ◽  
Vol 128 (4) ◽  
pp. 286-292 ◽  
Author(s):  
Suming Shi ◽  
Ping Guo ◽  
Wenquan Li ◽  
Wuqing Wang
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Features ◽  
Clinical Characteristics ◽  
Clinical Symptoms ◽  
Endolymphatic Hydrops ◽  
Low Frequency ◽  
Clinical Severity ◽  
Mri Findings ◽  
Vestibular Symptoms ◽  
Magnetic Resonance Imaging Mri

Objectives: The purpose of this study was to investigate the correlation between grades of endolymphatic hydrops (ELH) and clinical characteristics and determine the detailed clinical characteristics of Ménière’s disease (MD) patients with evidence of hydrops based on magnetic resonance imaging (MRI). Methods: One hundred ninety-eight MD patients (396 ears) with MRI evidence of hydrops were included. ELH grades were evaluated using the Nakashima grading standard. Correlations between the extent of ELH and clinical features were evaluated. Detailed clinical characteristics were analyzed to assess the clinical diagnostic criteria. Results: Of 198 patients, ELH was observed in 100% of cases on the clinically affected side and 8.6% of cases on the asymptomatic side. In addition, 98.5% of ELH was classified as moderate or significant grade. Low-frequency hearing loss was significantly correlated with the extent of both vestibular and cochlear hydrops, whereas the vertigo attack frequency showed no significant correlation with ELH grades. The disease duration of MD with bilateral ELH was longer than that with unilateral ELH. The clinical characteristics were variant and did not completely fit the proposed diagnostic criteria. Conclusions: MRI findings have relevance to the clinical severity, to a certain extent, but not vestibular symptoms. The proposed diagnostic criteria based on clinical characteristics may be partially effective; analysis of the detailed clinical characteristics of MD was meaningful. Diagnosis of MD based on both MRI and clinical symptoms could facilitate an early diagnosis.

scholarly journals Identifying Potential Clinical Syndromes of Hepatocellular Carcinoma Using PSO-Based Hierarchical Feature Selection Algorithm

2014 ◽  
Vol 2014 ◽  
pp. 1-12 ◽  
Author(s):  
Zhiwei Ji ◽  
Bing Wang
Keyword(s):  
Hepatocellular Carcinoma ◽  
Feature Selection ◽  
Clinical Symptoms ◽  
Malignant Tumors ◽  
Feature Space ◽  
Middle Layer ◽  
Active Role ◽  
Feature Representation ◽  
Causal Relationships ◽  
Positive Score

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC.

scholarly journals Ovarian tumors: Incidence, histological type of lesions and treatment in pediatric age group

2021 ◽  
Vol 75 ◽  
pp. 292-296
Author(s):  
Patrycja Sosnowska-Sienkiewicz ◽  
Piotr Nogal ◽  
Dawid Gawron ◽  
Korneliusz Wójcik ◽  
Danuta Januszkiewicz-Lewandowska ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Malignant Tumors ◽  
Histopathological Examination ◽  
Tumor Staging ◽  
Benign Lesion ◽  
Mature Teratoma ◽  
Malignant Lesion ◽  
Ovarian Tumors ◽  
Histological Type ◽  
Tumor Type

Background: The aim of this study was to evaluate the incidence and histological type of lesions affecting the ovaries and to analyze employed methods of invasive treatment. Materials&Methods: Medical records of patients who were treated surgically for ovarian tumors in the years 2015 -2019 were reviewed. The study group was comprised of 31 female patients. Results: During 5 years time, there were 31 girls in the age from 3 months to 17 years hospitalized in the department. The mean age was 11 years. Histopathological examination was performed in all of these cases. 12 patients were diagnosed with malignant lesion, 19 with benign lesion. The most commonly diagnosed malignant tumors were a dysgerminoma and a mixed germ cell tumor. In the group of benign lesions, the most frequent tumor type was mature teratoma. The first occurring symptom was abdominal pain. Some of the lesions were diagnosed accidentally during ultrasonography. The diagnostics was expanded depending on the size of the tumor, staging and clinical condition of the patient. All the patients were treated surgically, 16 of them underwent laparoscopic surgery. Torsion of the ovary or oviduct was observed in 3 cases. Chemotherapy was introduced in 8 cases as complementary treatment. Conclusions: The most commonly diagnosed tumor was mature teratoma. Ultrasonography is the most frequent method of the ovaries’ examination. Ovarian lesions are characterized by non-specific clinical symptoms, which is associated with prevalent incidental detection during ultrasonography.

scholarly journals Effects of the Wenyang Zhenshuai Granule on the Expression of LncRNA-MiR143HG/miR-143 Regulating ERK5 in H9C2 Cardiomyocytes

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Zelin Xu ◽  
Xinyu Chen ◽  
Qingyang Chen ◽  
Huzhi Cai
Keyword(s):  
Heart Failure ◽  
Survival Rate ◽  
Chronic Heart Failure ◽  
Clinical Symptoms ◽  
Malignant Tumors ◽  
Clinical Syndrome ◽  
Control Group ◽  
Heart Insufficiency ◽  
Injury Model ◽  
H9c2 Cardiomyocytes

Chronic heart failure (CHF) is a complex clinical syndrome caused by a variety of heart problems, with a high incidence. The 5-year survival rate of patients with clinical symptoms is similar to that of malignant tumors. Wenyang Zhenshuai granules are a safe and effective granule of traditional Chinese medicine components, including aconite, dried ginger, licorice, and red ginseng. In contemporary clinical applications, it is widely used in acute and chronic heart insufficiency, coronary heart disease, and arrhythmia. This research cultured H9C2 cardiomyocytes and divided them into the normal control group, LncRNA-MiR143HG overexpression group, LncRNA-MiR143HG silence group, Adriamycin (ADR) group, ADR + medicated serum group, ADR + LncRNA-MiR143HG overexpression + medicated serogroup, and ADR + LncRNA-MiR143HG silence + medicated serogroup. The cells of each group were treated differently, and the survival rate of each group of cells and the expression levels of LncRNA-MiR143HG/miR-143 and ERK5 were detected at the end of the experiment, and the expression of LncRNA-MiR143HG/miR-143 in H9C2 cardiomyocytes was regulated by Wenyang Zhenshuai granules’ impact. The results of this study showed that, in the doxorubicin-induced H9C2 cardiomyocyte injury model, the expression of miR-143 was upregulated, and the expression of LncRNA-MiR143HG and ERK5 was significantly downregulated. Wenyang Zhenshuai granules can downregulate the expression of miR-143 to promote ERK5 protein expression and phosphorylation. The process is regulated by LncRNA-MiR143HG/miR-143, which may be one of its important mechanisms for the treatment of chronic heart failure.

scholarly journals Ketone bodies – causes and effects of their increased presence in cows' body fluids: A review

2021 ◽  
pp. 1492-1503
Author(s):  
Piotr Guliński
Keyword(s):  
Dairy Cows ◽  
High Performance ◽  
Clinical Symptoms ◽  
Ketone Bodies ◽  
Good Condition ◽  
Body Fluids ◽  
Protein Ratio ◽  
Loss Of Appetite ◽  
Point Body ◽  
Main Component

Ketosis is the most common metabolic disease in high-performance dairy cows during the first 6-8 weeks of lactation. Its main symptoms include an excessive amount of so-called ketone bodies in a cow's body fluids. Ketone bodies consist of β-hydroxybutyric acid (βHBA), acetoacetic acid, and acetone. βHBA is the main component with its share of the total volume of ketone bodies in the blood of about 70%. Clinical symptoms of ketosis in cows include loss of appetite, preference for forage to concentrated feed, and acetone odor in their mouth and urine. Those symptoms are accompanied by a production drop, an increase of concurrent illness (mastitis, metritis, and displaced abomasum), and poor reproductive performance. One of the ketosis characteristic effects is an increase in the level of fat in milk (>5%), while protein levels decrease (<2.9%). In the case of subclinical ketosis (SCK), the fat–protein ratio in milk is increased to above 1.4:1. The current consensus for SCK is to consider a cutoff point of βHBA to be at least 1.2 mmol/L in blood plasma. Ketosis prevention is based on keeping perinatal cows in good condition, that is, with around 3.5 points in the five-point body condition scoring, carefully balancing food doses during the first 2 months of lactation with the correct energy–protein ratio. Glucose precursor products should be administered orally, in particular to at-risk herds. Ketosis occurs in 7-14% on average of the total number of cows in a herd. In general, data on the prevalence of SCK vary considerably, depending on their source. Moreover, the problem is mostly observed in poorly-fed animals with high milk production potential. The objectives of this review are to reveal the current situation of ketosis prevalence, the possibility of diagnosis, consequences in dairy cows and to provide some recommendations for ketosis treatment and prevention.

Discrepancies in the interpretation of clinical symptoms and signs in the diagnosis of multiple sclerosis. A proposal for standardization

2005 ◽  
Vol 11 (2) ◽  
pp. 227-231 ◽  
Author(s):  
Bernard MJ Uitdehaag ◽  
Ludwig Kappos ◽  
Lars Bauer ◽  
Mark S Freedman ◽  
David Miller ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Clinical Symptoms ◽  
Clinical Findings ◽  
Large Trial ◽  
Mri Findings ◽  
Mcdonald Criteria ◽  
Magnetic Resonance Imaging Mri ◽  
Eligibility Assessment

The new McDonald diagnostic criteria for multiple sclerosis (MS) incorporate detailed criteria for the interpretation and classification of magnetic resonance imaging (MRI) findings, but, in contrast, provide no instructions for the interpretation of clinical findings. Because MS according to the McDonald criteria is one of the primary endpoints in a large trial enrolling patients after the first manifestation suggestive for a demyelinating disease (BENEFIT study), it was decided to organize a centralized eligibility assessment for this trial. During this eligibility assessment it was observed that there were marked inconsistencies in the decisions of participating neurologists with respect to the classification of clinical symptoms as being caused by one or more lesions provoking discussions in about one in every five patients. This paper describes these inconsistencies and their sources, and recommends a systematic approach that attempts to reduce the variability in interpreting clinical findings.

How dangerous Gilbert's syndrome is

2021 ◽  
pp. 8-12
Author(s):  
Roman Petrovich Stepchenkov
Keyword(s):  
Pathological Condition ◽  
Inhibitory Effect ◽  
Unconjugated Bilirubin ◽  
Breakdown Product ◽  
Gilbert’S Syndrome ◽  
Gilbert's Syndrome ◽  
Bilirubin Metabolism ◽  
Gallbladder Dyskinesia ◽  
Conjugation Process ◽  
Loss Of Appetite

Gilbert's syndrome is a benign (functional) hyperbilirubinemia, which is based on a hereditary disorder of bilirubin metabolism, as a result of which the concentration of unbound bilirubin can increase several times. Bilirubin, being a breakdown product of hemoglobin, circulates through the bloodstream, combining with albumin molecules. Such bilirubin is called indirect. In the endoplasmic reticulum, it is conjugated; the enzyme glucuronyltransferase is responsible for this process. In Gilbert's syndrome, as a result of insufficient production of this enzyme, the conjugation process is disrupted, and, as a result, the concentration of unconjugated bilirubin increases. According to statistics, this pathological condition is observed in about 5 % of Russians. This syndrome was first described in 1901 by the French physician Augustin Nicolas Gilbert, and was subsequently named after him. The literature also contains references to this syndrome, described as «constitutional hepatic dysfunction», «familial non-hemolytic hyperbilirubinemia», «idiopathic non-conjugated hyperbilirubinemia». Gilbert's syndrome is inherited in an autosomal recessive manner; men get ill 3–4 times more often than women. A number of scientists associate this with a possible inhibitory effect of testosterone on the enzyme UDP-GT1, which breaks down bilirubin. Clinically, Gilbert's syndrome is manifested by episodes of jaundice caused by an increase in the level of unconjugated bilirubin in the blood serum. Against the background of icterus of the sclera and skin, there is increased fatigue, the appearance of a feeling of bitterness in the mouth, loss of appetite, nausea, and sometimes vomiting. The association of Gilbert's syndrome with functional disorders of the biliary tract, in particular, with gallbladder dyskinesia, is often noted.

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