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Coughing is a rare cause of syncope and the role of Tilt Table Test is not clear yet. The aim of this study was to describe the head-up tilt-test (TTT) and the occurrence of syncope with coughing during TTT in a small cohort of patients. A total of 5133 TTT were retrospectively analyzed to identify patients with cough syncope. A total of 9 patients (Male, age 51±14 years) with cough syncope were identified. Patients with cough syncope were compared to 12 age-matched control patients with syncope unrelated to coughing. Patients were made to cough on 3 separate occasions in an attempt to reproduce typical clinical symptoms on TTT. We present here the preliminary results of this ongoing study, as a confirm of dates described in literature., Bollettino della Società Medico Chirurgica di Pavia, Vol 126, N° 3 (2013)

Glucose-6-phosfate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway, leading to antioxidants that protect cells against oxidative damage. This genetic disease is characterized by a wide spectrum of clinical manifestations, both in different people and in the same patient. It seems to be due to the large number of genetic errors that can determine the defect and to the multiplicity of triggers able to inducing the hemolytic anemia tipical of this disease. This is what we present in the following case report, subject normally eating fava beans, who had never associated the ingestion with discomfort., Bollettino della Società Medico Chirurgica di Pavia, Vol 126, N° 3 (2013)

La sincope neuromediata rappresenta la causa più comune di perdita di coscienza nella popolazione generale ed in particolare fra i giovani. Proponiamo il caso di un bambino di otto anni che presentava sincopi recidivanti nel corso delle ore scolastiche e, attraverso l’analisi dei dati ottenuti durante il tilt table test al quale lo abbiamo sottoposto, la descrizione dei meccanismi con cui il sistema nervoso autonomo interviene nella genesi di questo tipo di sincope., Bollettino della Società Medico Chirurgica di Pavia, Vol 124, N° 2 (2011)

L’ecografia del torace non è ancora diffusa quanto quella addominale, nonostante una notevole quantità di studi ne attesti l’importanza. Riportiamo un caso nel quale l’ecografia toracica è stata utile complemento diagnostico alle classiche tecniche di imaging., Bollettino della Società Medico Chirurgica di Pavia, Vol 124, N° 2 (2011)

Psychogenic polydipsia is the act of compulsive water drinking. It is a well-recognized phenomenon that occurs in patients with psychiatric diseases, which, when severe enough, can lead to hyponatremia and characterize Self-Induced Water Intoxication (SIWI). SIWI patients present with various neurological findings such as brain edema, coma, convulsion and death due to secondary severe hyponatremia. Non-neurological symptoms, such as rhabdomyolysis, have been rarely described. In this case we will present a patient who presented with severe hyponatremia secondary to psychogenic polydipsia and rhabdomyolysis., Bollettino della Società Medico Chirurgica di Pavia, Vol 124, N° 1 (2011)

Strongyloidiasis is a human parasitic disease caused by the nematode Strongyloides stercoralis. It is endemic in the tropical and subtropical regions and infects up to one hundred million people in the world. It is widespread also in Europe and ipoendemic areas in Italy exist. The health consequences of S. stercoralis infections range from asymptomatic light infections to chronic symptomatic strongyloidiasis. We report the case of an elderly woman who had never been in tropical regions and presented with weight loss and asthenia., Bollettino della Società Medico Chirurgica di Pavia, Vol 124, N° 1 (2011)

Sclerodermic renal crisis is characterized by hypertension and rapidly progressive renal failure. It occurs in about 10% of patients with diffuse cutaneous scleroderma and is relatively rare in patients with the limited cutaneous variant. In up to a quarter of patients with sclerodermic renal crisis, the diagnosis of systemic sclerosis is made at the time of the renal presentation. The case that follows shows a renal sclerodermic crisis as beginning of systemic sclerosis., Bollettino della Società Medico Chirurgica di Pavia, Vol 123, N° 4 (2010)

Ankylosing spondylitis is an inflammatory disorder of unknown cause that primarily affects the axial skeleton; peripheral joints and extraarticular structures may also be involved. Ankylosing spondylitis can be considered the prototype of a group of disorders, Spondyloarthritis (SpA), which differ from other types of inflammatory arthritis in genetic predisposition, pathogenesis and outcome. SpA often begins in young age as an undifferentiated disease with some features of one or more of the adult variety of spondyloarthitis; these features usually lack criteria for diagnosis. We report the case of a young woman who was diagnosed at the age of 12 with juvenile rheumathoid arthritis because of an acute arthritis involving a knee and both ankles. Hospitalized for low-back pain, weight loss and asthenia the woman presented satisfying New York modified criteria for ankylosing spondylitis., Bollettino della Società Medico Chirurgica di Pavia, Vol 123, N° 4 (2010)

The concept "common presentation of rare diseases" implies that rare diseases are masked by common phenotypic manifestations. This concept applies to both aneurysmal and valvular diseases that can be syndromic and non-syndromic. Syndromic disorders include genetic connective tissue diseases and chromosomal disorders that are diagnosed independently from the aneurysm or valve disease. Non-syndromic diseases, on the other hand, are defined by the presence of aneurysm or valve disease or both. The reasons for suspecting these rare diseases include young age, the absence of risk factors, a positive family history for aortic or valvular disease/event, and extra-cardiovascular traits for syndromes. The probands should receive genetic counseling, genetic testing [single gene in case of precise phenotyping addressing the gene to be tested, or multigene panels, in case of diseases with genetic heterogeneity], post-test counseling, clinical family screening and cascade genetic testing in relatives after the identification of a causative mutation. Segregation studies are essential in case of novel mutations, in particular non-truncation predicting variants. Clinical family screening of syndromic diseases is facilitated by the evaluation of non-cardiovascular traits; this supports early diagnosis and geno-phenotype correlation. Vice versa, family screening studies in non-syndromic aneurysmal and valvular diseases exclusively relies on CV imaging screening of relatives. In this context, conditions such as BAV and related aortopathy are easy to diagnose because BAV is present at birth while aortopathy usually develops during the life course.