scholarly journals Idiopathic SIADH in young patients: don’t forget the nose

2017 ◽  
Vol 37 (1) ◽  
pp. 76-79
Author(s):  
C. Parrilla ◽  
D. Lucidi ◽  
G. Petrone ◽  
G. Bastanza ◽  
C. Colosimo

Il neuroblastoma olfattivo (ONB) è un raro tumore neuroendocrino dei seni paranasali associato, secondo molti autori, alla produzione di molteplici sostanze biologicamente attive. In questo lavoro descriviamo il caso di un paziente di sesso maschile di 31 anni giunto alla nostra osservazione presentando la sindrome idiopatica da inappropriata secrezione di ormone antidiuretico (SIADH). Durante il work-up diagnostico il paziente è stato sottoposto a TAC del massiccio facciale, che documentava la presenza di un estesioneuroblastoma etmoidale. è stato eseguito un trattamento di chirurgia endoscopica e successiva radioterapia. Subito dopo l’intervento chirurgico i livelli di natremia si sono normalizzati. Cinque anni più tardi il paziente risulta essere libero da malattia. Attualmente in letteratura sono stati pubblicati 17 casi di SIADH associata a ONB. In nove lavori la SIADH idiopatica ha tempestivamente portato alla diagnosi di masse sinusali come nel nostro caso, tuttavia, in molti casi, si è giunti alla diagnosi corretta mesi o anni dopo. Nei giovani pazienti con sindrome idiopatica da inappropriata secrezione di ormone antidiuretico è necessario escludere un tumore maligno neuroendocrino dei seni paranasali.

2021 ◽  
Vol 55 (1) ◽  
pp. 16-21
Author(s):  
Neuza Alves Soares ◽  
Mariana Teixeira Pinto Ferreira Pacheco ◽  
Manuel Joao Rocha Ferreira Rodrigues de Sousa ◽  
Mariana Lopes Matos ◽  
Susana Alexandra Lourenco Ferreira

Abstract Objectives. Pheochromocytoma (PCC) is a neuroendocrine tumor derived from chromaffin tissue more frequently found in the adrenal medulla. Many discoveries over the last decade have significantly improved our understanding of PCC. Methods. We retrospectively reviewed all patients with a histological diagnosis of PCC at the Centro Hospitalar Universitario de Sao Joao, a tertiary and university hospital in Oporto, Portugal, between January 2009 and December 2017. Results. The study group included 33 patients. In most cases the diagnosis was suspected with more than half of patients presenting with hypertension and the third diagnosed during the work-up of an adrenal incidentaloma. About half of the patients was referred for genetic testing and 6 patients had a positive inherited susceptibility genetic pathogenic variant associated with classic cancer predisposition syndromes and also associated with newly described genes. In the incidentaloma group, genetic testing was performed in 3 (9%) patients with only 1 positive result. In the suspected group, 15 (45%) genetic tests were performed. Conclusions. In contrast to other studies, where only a minority of patients with PCC were referred for genetic counselling, in our study 54% of patients was referred for genetic testing. This study suggests that clinicians were correctly recognizing the need to refer young patients and patients with positive family history. However, opportunities for genetic testing are frequently missed due to low referral rates in patients with apparently sporadic PCC, particularly older than 30 years old. It is imperative that all the providers involved in the multidisciplinary care of patients with pheochromocytomas are aware of the genetic disorders associated with these unique tumors.


EP Europace ◽  
2019 ◽  
Vol 21 (11) ◽  
pp. 1710-1716 ◽  
Author(s):  
Johnni Rudbeck-Resdal ◽  
Morten K Christiansen ◽  
Jens B Johansen ◽  
Jens C Nielsen ◽  
Henning Bundgaard ◽  
...  

Abstract Aims To describe aetiologies and temporal trends in young patients with atrioventricular block (AVB). Methods and results We identified all patients in Denmark, receiving their first pacemaker because of AVB before the age of 50 years between 1996 and 2015. Medical records were reviewed and clinical information and diagnostic work-up results were obtained to evaluate the aetiology. We used Poisson regression testing for temporal trends. One thousand and twenty-seven patients were identified, median age at time of implantation was 38 (interquartile range 25–45) years, 584 (56.9%) were male. The aetiologies were complications to cardiac surgery [n = 157 (15.3%)], congenital AVB [n = 93 (9.0%)], cardioinhibitory reflex [n = 52 (5.0%)], congenital heart disease [n = 43 (4.2%)], complication to radiofrequency ablation [n = 35 (3.4%)], cardiomyopathy [n = 31 (3.0%)], endocarditis [n = 18 (1.7%)], muscular dystrophy [n = 14 (1.4%)], ischaemic heart disease [n = 14 (1.4%)], sarcoidosis [n = 11 (1.1%)], borreliosis [n = 9 (0.9%)], hereditary [n = 6 (0.6%)], side-effect to antiarrhythmics [n = 6 (0.6%)], planned His-ablation [n = 5 (0.5%)], complication to alcohol septal ablation [n = 5 (0.5%)], and other known aetiologies [n = 11 (1.1%)]. The aetiology remained unknown in 517 (50.3%) cases. While the number of patients with unknown aetiology increased during the study period (P < 0.001), we observed no significant change in the number of patients with identified aetiology (P = 0.35). Conclusion In a nationwide cohort, the aetiology of AVB was identified in only half the patients younger than 50 years referred for first-time pacemaker implantation. The number of patients with unknown aetiology increased during the study period. These findings indicate need for better insight into aetiologies of AVB and improved diagnostic work-up guidelines.


2017 ◽  
Vol 37 (3) ◽  
pp. 237-241
Author(s):  
M. Rigante ◽  
G. La Rocca ◽  
L. Lauretti ◽  
G.Q. D’Alessandris ◽  
A. Mangiola ◽  
...  

Negli ultimi venti anni la chirurgia endoscopica del basicranio ha osservato continui sviluppi tecnici e tecnologici. L’endoscopia 3D e l’ alta definizione (HD) 4K hanno fornito grandi vantaggi in termini di visualizzazione e di risoluzione spaziale. L’ ultra HD 4K, recentemente introdotta nella pratica clinica, determinerà i prossimi passi soprattutto nella chirurgica endoscopica del basicranio. I pazienti sono stati operati attraverso un approccio transnasale transfenoidale endoscopico, utilizzando un endoscopio Olympus NBI 4K UHD con ottica 4 mm 0 ° Ultra Telescope, lampada allo xeno 300 W (CLV-S400) predisposto per la tecnologia narrow band imaging (NBI) collegato con una videocamera ad un alta qualità unità di controllo (OTV-S400 - VISERA 4K UHD) (Olympus, Tokyo, Giappone). Due schermi, un 31 “Monitor - (LMD-X310S) e quello principale ultra-HD 55” a pollici ottimizzati per la riproduzione immagini UHD (LMD-X550S). In casi selezionati abbiamo usato un sistema di navigazione (Stealthstation S7, Medtronic, Minneapolis, MN, Stati Uniti). Abbiamo valutato 22 adenomi ipofisari (86,3% macroadenomi; 13,7% microadenomi). Il 50% non erano secernenti (NS), 22,8% GH, 18,2% ACTH, 9% PRLsecernenti. 3/22 erano recidive. Nel 91% dei casi abbiamo raggiunto la rimozione totale, mentre nel 9% la resezione subtotale. Un followup medio di 187 giorni, durata media del ricovero era 3,09 ± 0,61 giorni. Tempo chirurgico 128,18 ± 30,74 minuti. Abbiamo avuto solo 1 caso di fistola intraoperatoria a basso flusso senza ulteriori complicazioni nel follow up. Il 100% dei casi non ha richiesto emotrasfusione. La visualizzazione e l’alta risoluzione del campo operatorio hanno fornito una vista dettagliata di tutte le strutture anatomiche e patologie e permesso il miglioramento della sicurezza e l’efficacia della procedura chirurgica. Il tempo operatorio è stato simile a quello dell’endoscopio HD standard 2D e 3D, come la fatica fisica era paragonabile ad altri in termini di ergonomicità e peso.


SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A433-A433
Author(s):  
J Wong ◽  
D Gupta ◽  
A Nadhim

Abstract Introduction Approximately 25% of all strokes are cryptogenic in nature, and about 50% of all young patients with cryptogenic stroke are found to have patent foramen ovale (PFO), which is known to be the most common cause of right-to-left shunting (RTLS). Studies have shown a 2.2-fold increase in right-to-left shunt in patients with OSA and PFO, compared to patients with PFO alone. Hence, increasing the risk of cardio-embolic stroke in such patients. We present a case series of 3 patients with PFO that had embolic stroke at a young age and were found to have comorbid OSA, the likely exacerbating factor of a RTLS. Methods A 38-year old female, a 59-year old male, and a 27-year old female presented with stroke-like symptoms without clear vascular pathology. Upon further work-up, all were found to have PFO with RTLS. Subsequently, these patients were referred for sleep evaluation, and each one was found to severe REM-related OSA with prominent oxygen desaturations. All three patients were started on PAP therapy for control of their OSA. Two out of the 3 patients opted for PFO closure, and the 3rd patient opted for anti-platelet therapy alone. He has had no recurrence of TIA/stroke after 12 years so far. Results These cases illustrate a correlation between right-to-left shunting and severe REM-related OSA, through possible elevation of right-sided pressure due to nocturnal desaturations/hypoxemia. Hence, it is worth consideration that the increased right-sided pressure induced by apneic events in sleep may be a potential exacerbating factor in producing stroke-like symptoms sooner in patients with PFO than in patients with PFO who are without OSA. Conclusion It may be beneficial to assess young patients with stroke due to PFO, for comorbid OSA as a cause of the RTLS. This would help to prevent recurrent stroke in such patients and improve quality of life. Support No financial support.


Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 182
Author(s):  
Maria Lucia Narducci ◽  
Michela Cammarano ◽  
Valeria Novelli ◽  
Antonio Bisignani ◽  
Chiara Pavone ◽  
...  

The diagnosis of structural heart disease in athletes with ventricular arrhythmias (VAs) and an apparently normal heart can be very challenging. Several pieces of evidence demonstrate the importance of an extensive diagnostic work-up in apparently healthy young patients for the characterization of concealed cardiomyopathies. This study shows the various diagnostic levels and tools to help identify which athletes need deeper investigation in order to unmask possible underlying heart disease.


2021 ◽  
Vol 54 (3) ◽  
pp. 205-206
Author(s):  
Tariq Ashraf ◽  
Muhammad Ishaq

The estimated population of congestive heart failure (CHF) patients in Pakistan is 28 millions.1 Besides epidemics of type 2 diabetes mellitus and coronary heart disease, South Asian countries are also be at an increased risk of heart failure at earlier ages than other racial/ethnic groups.2 Heart failure sub classified into three categories: With preserved ejection fraction (LVEF>50%), Mid-range ejection fraction (LVEF41-49%), Reduced ejection fraction (LVEF<40%).3 According to studies in United States of American (USA) and United Kingdom (UK)4,5 heart failure with reduced ejection fraction (HFrEF) prevalence has increased due to ageing population, improved survival from myocardial infarction and high prevalence of co-morbid conditions like diabetes and obesity. With increasing number of young patients (<40 years) with acute myocardial infarction (AMI) 12%6 in our population, prevalence of heart failure with predisposing factors need to be explored. Other than diagnosing and work up of these patients, the most challenging part is the pharmacological treatment by therapeutic agents proven to reduce morbidity and mortality in HRrEF. Registries have shown under-usage of angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), angiotensin receptor-neprilysin inhibitor (ARNI), Beta-blockers and mineralocorticoid receptor antagonists (MRA) in such patients.7 Reason of not acheving the outcomes were due to not attaining the target levels of drugs dosages.8 With recommendations from new guidelines new novel drug therapies i.e. sodium-glucose cotransporter-2 (SGLT2) inhibitors, most debatable questions from the physicians are keeping in view the hemodynamic status and kidney function. Questions coming to the Physicians minds include;9 Should all guideline directed medical therapies be started together or stage wise? Which drugs should be titrated first? How quick can one up-titrate B-blockers and ARNI? At what level of kidney impairment should one stop ACE/ARB/ARNI/SGLT2 inhibitors? When should one refer these patients for cardiac resynchronization therapy device (CRTD) or Heart Transplantation? When should one repeat transesophageal echocardiography (TEE)? Physicians need to have clear answers and stance on the above queries. HFrEF is a major public health concern in our population especially with early onset of ischemic heart disease (IHD). Awareness, education and up to date knowledge regarding early diagnosis, work up and adjustments of drugs in such patients with proper follow up is important to reduce the ever rising morbidity and mortality in our population.   References Sheikh SA. Heart failure in Pakistan: A demographic survey. J Card Fail. 2006;12(8):S157. Martinez-Amezcua P, Haque W, Khera R, Kanaya AM, Sattar N, Lam CS, et al. The upcoming epidemic of heart failure in South Asia. Circ Heart Fail. 2020;13(10):e007218. Yancy CW, Jessup M, Bozkurt B, Butler J, Casey Jr DE, Colvin MM, et al. 2017 ACC/AHA/HFSA focused update of the 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Failure Society of America. J Am Coll Cardiol. 2017;70(6):776-803. Virani SS, Alonso A, Benjamin EJ, Bittencourt MS, Callaway CW, Carson AP, et al. Heart disease and stroke statistics—2020 update: a report from the American Heart Association. Circulation. 2020;141(9):e139-596. Mozaffarian D, Benjamin EJ, Go AS, Arnett DK, Blaha MJ, Cushman M, et al. Heart disease and stroke statistics—2015 update: a report from the American Heart Association. Ccirculation. 2015;131(4):e29-322. Batra MK, Rizvi NH, Sial JA, Saghir T, Karim M. Angiographic Characteristics and in Hospital Outcome of Young Patients, Age Up to 40 Versus More Than 40 Years Undergoing Primary Percutaneous Coronary Intervention. J Pak Med Assoc. 2019;69(9):1308-12. Greene SJ, Butler J, Albert NM, DeVore AD, Sharma PP, Duffy CI, et al. Medical therapy for heart failure with reduced ejection fraction: the CHAMP-HF registry. J Am Coll Cardiol. 2018;72(4):351-66. Konstam MA, Neaton JD, Dickstein K, Drexler H, Komajda M, Martinez FA, et al. Effects of high-dose versus low-dose losartan on clinical outcomes in patients with heart failure (HEAAL study): a randomised, double-blind trial. Lancet. 2009;374(9704):1840-8. Murphy SP, Ibrahim NE, Januzzi JL. Heart failure with reduced ejection fraction: a review. JAMA. 2020;324(5):488-504.


1984 ◽  
Vol 5 (9) ◽  
pp. 273-273
Author(s):  
T. SILBER

An increasing number of pediatricians are following their young patients throughout adolescence. For that reason, I would like to add one more cause of hematuria to the list developed by Kaplan: gonococcal infection. Gonorrhea is the second most common cause of gross hematuria in adults. Recently, our group had the opportunity to describe this same condition in male adolescents. It is important to suspect that gonorrhea may be the cause of macroscopic hematuria in otherwise healthy, sexually active adolescent males who on history or physical examination demonstrate purulent urethral discharge, dysuria, or both. The toxic action of Neisseria gonorrhoeae on the urethral epithelium is sufficient cause to explain the hematuria. A follow-up visit, one week after treatment with 4.8 million units of procaine penicillin and 1 gm of probenecid (or 3 gm of amoxicillin and 1 gm of probenecid) should show resolution of symptoms and clearing of the macrohematuria. Further work-up is needed only if symptoms have not cleared at the time of the test-for-cure visit.


2001 ◽  
Vol 7 (4) ◽  
pp. 148-153
Author(s):  
Alberto Bozzani ◽  
Miriam CJM Sturkenboom ◽  
Miriam CJM Sturkenboom ◽  
Roberto Ravasio ◽  
Alfredo Nicolosi

2013 ◽  
Vol 14 (suppl_1) ◽  
pp. i24-i24
Author(s):  
A Florian ◽  
T Schäufele ◽  
A Ludwig ◽  
S Rösch ◽  
I Wenzelburger ◽  
...  

1996 ◽  
Vol 9 (3) ◽  
pp. 297-300
Author(s):  
A. Blandino ◽  
G. Ascenti ◽  
M. Longo ◽  
I. Pandolfo ◽  
E. Scribano

La sinusite cronica e la poliposi rinosinusale sono estremamente frequenti in pazienti affetti da fibrosi cistica. In questi il coinvolgimento delle cavità paranasali viene frequentemente valutato sulla base del solo esame radiografico diretto, con scarso utilizzo della TC, contrariamente a quanto avviene per lo studio delle alterazioni polmonari. Dopo visita ORL ed endoscopia, 18 giovani pazienti affetti da fibrosi cistica sono stati studiati con TC in coronale dei seni paranasali a bassa dose. In tutti i 18 pazienti la TC ha documentato opacamento dei seni mascellari, con ispessimento mucoso e ristagno di secreti densi. In 5 pazienti asintomatici e con visita ORL negativa, il meato medio è apparso normale mentre nei rimanenti 13, risultati positivi alla visita ORL e con sintomatologia compatibile con patologia flogistica rinosinusale, si è dimostrata costantemente la ostruzione dell'infundibolo (in 10 bilaterale ed in 3 monolaterale). Si è altresì rilevato opacamento dell'etmoide anteriore (9), dell'etmoide posteriore (4), del seno frontale (7) e di quello sfenoidale (4), tessuto patologico con aspetto polipoide nel meato medio (4), poliposi massiva (1). Non abbiamo riscontrato sclerosi ed ispessimento osseo delle pareti sinusali, cisti da ritenzione o mucoceli. Anche in ambito pediatrico la chirurgia endoscopica «funzionale» è indicata quale trattamento della poliposi e delle flogosi croniche o recidivanti ribelli alle comuni terapie farmacologiche. Nei pazienti sintomatici, dopo valutazione endoscopica preliminare, trova giustificazione l'impiego della TC il cui triplice ruolo è di verificare l'esistenza di processi ostruttivi, di valutare l'estensione della patologia e di esplorare con elevata accuratezza le cavità rinosinusali e le strutture limitrofe al fine di ridurre i rischi operatori.


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