MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. No consistent correlations have been identified between the 27 different MYH9 mutations identified so far and the variable clinical evolution of the disease. We have evaluated 108 consecutive MYH9-RD patients belonging to 50 unrelated pedigrees. The risk of noncongenital manifestations associated with different genotypes was estimated over time by event-free survival analysis. We demonstrated that all subjects with mutations in the motor domain of NMMHC-IIA present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. We also evaluated the clinical course of patients with mutations in the four most frequently affected residues of NMMHC-IIA (responsible for 70% of MYH9-RD cases). We concluded that mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures. These findings are relevant not only to patients' clinical management but also to the elucidation of the pathogenesis of the disease.

ObjectiveWe illustrate the magnetic resonance imaging (MRI) features of endometriosis.BackgroundEndometriosis is a chronic gynaecological condition affecting women of reproductive age and may cause pelvic pain and infertility. It is characterized by the growth of functional ectopic endometrial glands and stroma outside the uterus and includes three different manifestations: ovarian endometriomas, peritoneal implants, deep pelvic endometriosis. The primary locations are in the pelvis; extrapelvic endometriosis may rarely occur. Diagnosis requires a combination of clinical history, invasive and non-invasive techniques. The definitive diagnosis is based on laparoscopy with histological confirmation. Diagnostic imaging is necessary for treatment planning. MRI is as a second-line technique after ultrasound. The MRI appearance of endometriotic lesions is variable and depends on the quantity and age of haemorrhage, the amount of endometrial cells, stroma, smooth muscle proliferation and fibrosis. The purpose of surgery is to achieve complete resection of all endometriotic lesions in the same operation.ConclusionOwing to the possibility to perform a complete assessment of all pelvic compartments at one time, MRI represents the best imaging technique for preoperative staging of endometriosis, in order to choose the more appropriate surgical approach and to plan a multidisciplinary team work.Teaching Points • Endometriosis includes ovarian endometriomas, peritoneal implants and deep pelvic endometriosis. • MRI is a second-line imaging technique after US. • Deep pelvic endometriosis is associated with chronic pelvic pain and infertility. • Endometriosis is characterized by considerable diagnostic delay. • MRI is the best imaging technique for preoperative staging of endometriosis.

Native arteriovenous fistula (AVF) is the vascular access of choice for hemodialysis patients. Compared with grafts and central venous catheters, AVFs last longer and are associated with fewer complications. The widespread use of the Doppler ultrasound (DUS) has increased the number of patients who are eligible for AVF by facilitating the identification of vessels that are suitable for fistula construction (preoperative vascular mapping). DUS can also extend native AVF survival by improving the early detection of complications (post-operative surveillance). It is the only imaging modality that furnishes both morphological and functional data on the native vascular access, and it is also the only imaging tool that can be used directly by the surgeon, an indisputable advantage. This review examines the numerous roles played by DUS in the construction and postoperative follow-up of AVFs, including preoperative vascular mapping, AVF maturation, and surveillance.Keywords Doppler ultrasound (DUS) Á Arteriovenous fistula (AVF) Á Preoperative vascular mapping Á Access flow volume measurement Á AVF monitoring and surveillance Riassunto La FAV confezionata con vasi nativi rappresenta l'accesso vascolare di scelta per il paziente emodializzato in quanto, a parità di flusso, presenta minore incidenza di complicanze e più lunga sopravvivenza rispetto alle protesi ed ai cateteri venosi centrali. L'avvento del DUS nell'armamentario di chi si occupa di chirurgia degli accessi vascolari ha, da un lato, aumentato il numero di pazienti in cui si riesce a confezionare una FAV con vasi nativi (grazie all'individuazione di vasi idonei all'intervento mediante il mapping pre-chirurgico), e, dall'altro, ha migliorato la sopravvivenza delle FAV grazie alla diagnosi precoce (monitoraggio post-operatorio) delle complicanze dell'accesso vascolare. L'eco-color-Doppler è l'unica tecnica in grado di dare informazioni sia morfologiche che di funzionalità (flusso) dell'accesso vascolare; inoltre, è l'unica tecnica (tra quelle di diagnostica per immagini) direttamente gestibile dal chirurgo e ciò rappresenta sicuramente un valore aggiunto. Questa review fornisce una panoramica sulle possibili applicazioni del DUS nell'ambito del confezionamento e del follow-up delle FAV, con particolare riferimento al mapping pre-chirurgico, alla maturazione della FAV e al monitoraggio/sorveglianza della FAV.

Heavy metals are extensively used in agriculture and industrial applications such as production of pesticides, batteries, alloys, and textile dyes. Prolonged, intensive or excessive exposure can induce related systemic disorders. Kidney is a target organ in heavy metal toxicity for its capacity to filter, reabsorb and concentrate divalent ions. The extent and the expression of renal damage depends on the species of metals, the dose, and the time of exposure. Almost always acute kidney impairment differs from chronic renal failure in its mechanism and in the magnitude of the outcomes. As a result, clinical features and treatment algorithm are also different. Heavy metals in plasma exist in an ionized form, that is toxic and leads to acute toxicity and a bound, inert form when metal is conjugated with metallothionein and are then delivered to the liver and possible causing the kidney chronic damage. Treatment regimens include chelation therapy, supportive care, decontamination procedures and renal replacement therapies. This review adds specific considerations to kidney impairment due to the most common heavy metal exposures and its treatment.

As the importance of pelvic venous disorders (PeVD) has been increasingly recognized, progress in the field has been limited by the lack of a valid and reliable classification instrument. Misleading historical nomenclature, such as the May-Thurner, pelvic congestion, and nutcracker syndromes, often fails to recognize the interrelationship of many pelvic symptoms and their underlying pathophysiology. Based on a perceived need, the American Vein and Lymphatic Society convened an international, multidisciplinary panel charged with the development of a discriminative classification instrument for PeVD. This instrument, the Symptoms-Varices-Pathophysiology ("SVP") classification for PeVD, includes three domainsdSymptoms (S), Varices (V), and Pathophysiology (P), with the pathophysiology domain encompassing the Anatomic (A), Hemodynamic (H), and Etiologic (E) features of the patient's disease. An individual patient's classification is designated as SVP A,H,E . For patients with pelvic origin lower extremity signs or symptoms, the SVP instrument is complementary to and should be used in conjunction with the Clinical-Etiologic-Anatomic-Physiologic (CEAP) classification. The SVP instrument accurately defines the diverse patient populations with PeVD, an important step in improving clinical decision making, developing disease-specific outcome measures and identifying homogenous patient populations for clinical trials.