outcome of childhood onset full house nephropathy

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May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness

May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical and laboratory signs, such as sensorineural hearing loss, cataract, nephritis, and polymorphonuclear Döhle-like bodies. Mutations in the MYH9 gene encoding for the nonmuscle myosin heavy chain IIA (NMMHC-IIA) have been identified in all these syndromes. To understand the role of the MYH9 mutations, we report the molecular defects in 12 new cases, which together with our previous works represent a cohort of 19 families. Since no genotype-phenotype correlation was established, we performed an accurate clinical and biochemical re-evaluation of patients. In addition to macrothrombocytopenia, an abnormal distribution of NMMHC-IIA within leukocytes was observed in all individuals, including those without Döhle-like bodies. Selective, high-tone hearing deficiency and cataract was diagnosed in 83% and 23%, respectively, of patients initially referred as having May-Hegglin anomaly or Sebastian syndrome. Kidney abnormalities, such as hematuria and proteinuria, affected not only patients referred as Fechtner syndrome and Epstein syndrome but also those referred as May-Hegglin anomaly and Sebastian syndrome. These findings allowed us to conclude that May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but rather a single disorder with a continuous clinical spectrum varying from mild macrothrombocytopenia with leukocyte inclusions to a severe form complicated by hearing loss, cataracts, and renal failure. For this new nosologic entity, we propose the term "MHY9-related disease," which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects

Multicentre Italian study of SARS-CoV-2 infection in children and adolescents, preliminary data as at 10 April 2020

Data on features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in children and adolescents are scarce. We report preliminary results of an Italian multicentre study comprising 168 laboratory-confirmed paediatric cases (median: 2.3 years, range: 1 day-17.7 years, 55.9% males), of which 67.9% were hospitalised and 19.6% had comorbidities. Fever was the most common symptom, gastrointestinal manifestations were frequent; two children required intensive care, five had seizures, 49 received experimental treatments and all recovered

Shiga Toxin Producing Escherichia coli-Hemolytic Uremic Syndrome Mimicking Acute Severe Ulcerative Colitis in a Child With Bloody Diarrhea

No abstract availabl

Case histories

L’inquinamento ambientale pone problemi di natura economica, sociale, politica e giuridica che spesso conducono a conflitti etici (e.g. “Salute o Lavoro?”), apparentemente irrisolvibili. Uno dei principali contributi alla soluzione di questi problemi può essere fornito dallo sviluppo scientifico e tecnologico finalizzato al contenimento dei rischi determinati dall’inquinamento ambientale. La presente nota, inserita nell’ambito del programma del convegno RemTech 2015 sul contributo della Geotecnica negli interventi sui siti contaminati, si propone di illustrare sinteticamente alcuni esempi di impiego degli strumenti tecnologici e scientifici forniti dall’Ingegneria Geotecnica per la soluzione di questa tipologia di problematiche

Case histories

L’inquinamento ambientale pone problemi di natura economica, sociale, politica e giuridica che spesso conducono a conflitti etici (e.g. “Salute o Lavoro?”), apparentemente irrisolvibili. Uno dei principali contributi alla soluzione di questi problemi può essere fornito dallo sviluppo scientifico e tecnologico finalizzato al contenimento dei rischi determinati dall’inquinamento ambientale. La presente nota, inserita nell’ambito del programma del convegno RemTech 2015 sul contributo della Geotecnica negli interventi sui siti contaminati, si propone di illustrare sinteticamente alcuni esempi di impiego degli strumenti tecnologici e scientifici forniti dall’Ingegneria Geotecnica per la soluzione di questa tipologia di problematiche