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.

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.

scholarly journals A Malignant Pheochromocytoma in a Child with von Hippel-Lindau Mutation

2017 ◽  
Vol 90 (3) ◽  
pp. 356-358
Author(s):  
Gheorghe Popa ◽  
Cristina Lucia Blag ◽  
Mădălina Bota ◽  
Adriana Zolog
Keyword(s):  
Chromaffin Cells ◽  
Clear Cell ◽  
Clinical Symptoms ◽  
Renal Cysts ◽  
Malignant Pheochromocytoma ◽  
Cell Renal Cell Carcinoma ◽  
Von Hippel Lindau ◽  
Abdominal Mri ◽  
Von Hippel Lindau Syndrome

Pheochromocytoma is a rare neuroendocrine tumor that arises from the chromaffin cells of the sympathetic nervous system. Over one third of pheochromocytomas are associated with germline mutations. We describe a 3 year-old girl with an inherited right adrenal malignant pheochromocytoma, with the mother diagnosed with von Hippel-Lindau syndrome. Genetic tests revealed the presence of the VHL c 244 C>G (p. Arg 82 Gly) heterozygote mutation in the mother, as well as in the child. After 6 months from the complete resection of the tumor, the patient is without any clinical symptoms, with normal blood pressure, normal ophthalmoscopy, no tumor markers and no evidence of tumor on cerebral or abdominal MRI. Lifelong complex follow-up is needed, as it is known that at a later age VHL mutation may cause retinal angiomas, cerebellar and spinal hemangioblastomas, relapsed pheocromocytoma, pancreatic and renal cysts, clear cell renal cell carcinoma and endolymphatic sac tumors. 

FEOCHROMOCITOMA – KATECHOLAMINUS PRODUKUOJANTIS NAVIKAS: KLINIKINIS ATVEJIS

2015 ◽  
Vol 21 (4.3) ◽  
pp. 853-856
Author(s):  
Inga Aleknaitė
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Von Hippel Lindau ◽  
Endocrine Neoplasia ◽  
Men 2B

Reikšminiai žodžiai: feochromocitoma, katecholaminus produkuojantis navikas, hipertenzinė krizė. Feochromocitoma yra retas, chromafininių ląstelių kilmės, katecholaminus produkuojantis navikas. Literatūros duomenimis, šių navikų paplitimas bendroje populiacijoje yra 0,3 proc., o tarp sergančių arterine hipertenzija feochromocitoma diagnozuojama 1–5 pacietams tūkstančiui atvejų. Didžioji dalis tumorų randami antinksčių šerdinėje dalyje, o apie 10–20 proc. – kitose lokalizacijoje, daugiausia krūtinės, pilvo ir dubens organų simpatinės nervų sistemos ganglijų išsidėstymo srityse. Apie 17 proc. feochromocitomų yra piktybinės, daugiausia tos, kurios randamos ne antinkstyje, likusios yra gerybinės. Šie tumorai gali būti susiję su dauginėmis endokrininėmis neoplazijomis (angl. multiple endocrine neoplasia MEN2A ir MEN 2B), pirmo tipo neurofibromatoze, von Hippel–Lindau liga, šeiminėmis paragangliomomis. Daugiausia feochromocitomų diagnozuojama ketvirtame– penktame gyvenimo dešimtmetyje, moterims ir vyrams vienodai dažnai. Daugeliu atvejų šio neuroendokrininio turomo kilmė yra neaiški, išskyrus su genetinėmis ligomis susijusius ir paveldėtus atvejus. Klasikinė simptomų triada (galvos skausmas, tachikardija, prakaitavimas) dažniausiai nustatoma kartu su arterine hipertenzija, kuri pusei sergančiųjų būna epizodinė. Retesni atvejai, kai feochromocitoma pasireiškia ortostatine hipotenzija, regėjimo sutrikimais, hiperglikemija, leukocitoze, pavieniais atvejais būdinga kardiomiopatija, kuri išsivysto dėl katecholaminų pertekliaus, panašiai kaip esant streso sukeltai (Takotsubo) kardiomiopatijai, taip pat gali pasireikšti plaučių edema. Feochromocitoma paprastai diagnozuojama nustatant katecholaminų kiekį paros šlapime arba metanefrinų kiekį kraujo plazmoje. Pirmo pasirinkimo gydymas – operacinis, kai pašalinus naviką normotenzija pasiekiama iki 75 proc. pacientų. Negydant feochromocitomos, didėja mirtingumo rizika. Literatūroje aprašomi pavieniai feochromocitomų atvejai, susiję su staigia mirtimi. Dažniausiai mirties priežastis yra sunki epizodinė hipertenzija, hipertenzinė krizė, ūmūs cerebrovaskuliniai įvykiai, tumoro plyšimas ir kraujavimas, ūmus kairiojo skilvelio nepakankamumas, kardiogeninis šokas ir ūmus širdies nepakankamumas. Šiame straipsnyje aptarsime jaunos moters netipinį feochromocitomos pasireiškimo klinikinį atvejį bei literatūros duomenis šia tema.

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.

Pitfalls in the diagnosis and management of Cushing's syndrome

2015 ◽  
Vol 38 (2) ◽  
pp. E4 ◽  
Author(s):  
Vivek Bansal ◽  
Nadine El Asmar ◽  
Warren R. Selman ◽  
Baha M. Arafah
Keyword(s):  
Cushing’S Syndrome ◽  
Cushing’S Disease ◽  
Salivary Cortisol ◽  
Clinical Symptoms ◽  
Cushing's Syndrome ◽  
Cushing's Disease ◽  
Biochemical Tests ◽  
Late Night ◽  
Late Night Salivary Cortisol ◽  
Free Cortisol

Despite many recent advances, the management of patients with Cushing's disease continues to be challenging. Cushing's syndrome is a complex metabolic disorder that is a result of excess glucocorticoids. Excluding the exogenous causes, adrenocorticotropic hormone–secreting pituitary adenomas account for nearly 70% of all cases of Cushing's syndrome. The suspicion, diagnosis, and differential diagnosis require a logical systematic approach with attention paid to key details at each investigational step. A diagnosis of endogenous Cushing's syndrome is usually suspected in patients with clinical symptoms and confirmed by using multiple biochemical tests. Each of the biochemical tests used to establish the diagnosis has limitations that need to be considered for proper interpretation. Although some tests determine the total daily urinary excretion of cortisol, many others rely on measurements of serum cortisol at baseline and after stimulation (e.g., after corticotropin-releasing hormone) or suppression (e.g., dexamethasone) with agents that influence the hypothalamic-pituitary-adrenal axis. Other tests (e.g., measurements of late-night salivary cortisol concentration) rely on alterations in the diurnal rhythm of cortisol secretion. Because more than 90% of the cortisol in the circulation is protein bound, any alteration in the binding proteins (transcortin and albumin) will automatically influence the measured level and confound the interpretation of stimulation and suppression data, which are the basis for establishing the diagnosis of Cushing's syndrome. Although measuring late-night salivary cortisol seems to be an excellent initial test for hypercortisolism, it may be confounded by poor sampling methods and contamination. Measurements of 24-hour urinary free-cortisol excretion could be misleading in the presence of some pathological and physiological conditions. Dexamethasone suppression tests can be affected by illnesses that alter the absorption of the drug (e.g., malabsorption, celiac disease) and by the concurrent use of medications that interfere with its metabolism (e.g., inducers and inhibitors of the P450 enzyme system). In this review, the authors aim to review the pitfalls commonly encountered in the workup of patients suspected to have hypercortisolism. The optimal diagnosis and therapy for patients with Cushing's disease require the thorough and close coordination and involvement of all members of the management team.

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 THE SERO-CONVERSION AND EVALUATION OF RENAL ALTERATIONS IN DOGS INFECTED BY Leishmania (Infantum) chagasi

2013 ◽  
Vol 55 (2) ◽  
pp. 105-112 ◽  
Author(s):  
Georgia Brenda Barros Alves ◽  
Lucilene dos Santos Silva ◽  
Joilson Ferreira Batista ◽  
Ângela Piauilino Campos ◽  
Maria das Graças Prianti ◽  
...  
Keyword(s):  
Visceral Leishmaniasis ◽  
Post Infection ◽  
Serum Proteins ◽  
Clinical Symptoms ◽  
Periodic Acid ◽  
Biochemical Tests ◽  
Serological Tests ◽  
Periodic Acid Schiff ◽  
Infection Period ◽  
Conversion Period

This study investigated the sero-conversion period in which dogs from endemic areas test positive for visceral leishmaniasis (VL) as well as the early post-infection period in which renal alterations are observed. Dogs that were initially negative for Canine Visceral Leishmaniasis (CVL) were clinically evaluated every three months by serological, parasitological and biochemical tests until sero-conversion was confirmed, and six months later a subsequent evaluation was performed. Samples of kidney tissues were processed and stained with Hematoxylin and Eosin (H&E), Periodic Acid Schiff (PAS) and Masson’s trichrome stain and lesions were classified based on the WHO criteria. Of the 40 dogs that initially tested negative for VL, 25 (62.5%) exhibited positive serological tests during the study period. Of these 25 dogs, 15 (60%) tested positive within three months, five (20%) tested positive within six months and five (20%) tested positive within nine months. The dogs exhibited antibody titers between 1:40 and 1:80 and 72% of the dogs exhibited clinical symptoms. The Leishmania antigen was present in the kidneys of recently infected dogs. We found higher levels of total protein and globulin as well as lower levels of albumin in the infected dogs when compared to the control dogs. Additionally, infected dogs presented levels of urea and creatinine that were higher than those of the uninfected dogs. Glomerulonephritis was detected in some of the dogs examined in this study. These data suggest that in Teresina, the sero-conversion for VL occurs quickly and showed that the infected dogs presented abnormal serum proteins, as well as structural and functional alterations in the kidneys during the early post-infection period.

Insulinoma and hypoglycaemia

2011 ◽  
pp. 914-919
Author(s):  
Puja Mehta ◽  
Jeannie F. Todd
Keyword(s):  
Islet Cell ◽  
Multiple Endocrine Neoplasia ◽  
Clinical Syndrome ◽  
Complete Resection ◽  
Pancreatic Islet Cell ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Endocrine Neoplasia ◽  
Calcium Stimulation ◽  
Surgical Cure

Hypoglycaemia is a clinical syndrome with diverse aetiology. Insulinomas, although rare, are the most common functioning pancreatic islet cell tumour and may be part of the multiple endocrine neoplasia type 1 (MEN 1) syndrome. Patients present with symptoms of neuroglycopenia and a catecholamine response. Diagnosis is confirmed by evidence of endogenous hyperinsulinaemic hypoglycaemia. Tumours are localized by ultrasonography, CT and/or intra-arterial calcium stimulation with venous sampling. Most tumours are benign and solitary, making surgical cure possible with complete resection. Medical options, including diazoxide or octreotide, are available for multifocal tumours.

scholarly journals The autoantibody-mediated encephalitides: from clinical observations to molecular pathogenesis

2019 ◽  
Author(s):  
Sudarshini Ramanathan ◽  
Adam Al-Diwani ◽  
Patrick Waters ◽  
Sarosh R. Irani
Keyword(s):  
Cerebrospinal Fluid ◽  
Close Association ◽  
Autoimmune Encephalitis ◽  
Clinical Syndrome ◽  
Clinical Observations ◽  
Improved Outcomes ◽  
Clinical Syndromes ◽  
Specific Autoantibody ◽  
Autoantibody Detection

Abstract The autoimmune encephalitis (AE) syndromes have been characterised by the detection of autoantibodies in serum and/or cerebrospinal fluid which target the extracellular domains of specific neuroglial antigens. The clinical syndromes have phenotypes which are often highly characteristic of their associated antigen-specific autoantibody. For example, the constellation of psychiatric features and the multi-faceted movement disorder observed in patients with NMDAR antibodies are highly distinctive, as are the faciobrachial dystonic seizures observed in close association with LGI1 antibodies. These typically tight correlations may be conferred by the presence of autoantibodies which can directly access and modulate their antigens in vivo. AE remains an under-recognised clinical syndrome but one where early and accurate detection is critical as prompt initiation of immunotherapy is closely associated with improved outcomes. In this review of a rapidly emerging field, we outline molecular observations with translational value. We focus on contemporary methodologies of autoantibody detection, the evolution and distinctive nature of the clinical phenotypes, generalisable therapeutic paradigms, and finally discuss the likely mechanisms of autoimmunity in these patients which may inform future precision therapies.

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