The assembly of a spliceosomal small nuclear ribonucleoprotein particle

The U1, U2, U4, U5 and U6 small nuclear ribonucleoprotein particles (snRNPs) are essential elements of the spliceosome, the enzyme that catalyzes the excision of introns and the ligation of exons to form a mature mRNA. Since their discovery over a quarter century ago, the structure, assembly and function of spliceosomal snRNPs have been extensively studied. Accordingly, the functions of splicing snRNPs and the role of various nuclear organelles, such as Cajal bodies (CBs), in their nuclear maturation phase have already been excellently reviewed elsewhere. The aim of this review is, then, to briefly outline the structure of snRNPs and to synthesize new and exciting developments in the snRNP biogenesis pathways

I segni ecografici della cute diabetica: studio preliminare su 120 pazienti

Introduzione La microangiopatia diabetica produce alcune dermatosi e giustifica la loro evoluzione in lesioni ulcerate dal 10,6% al 54,5% dei casi. Abbiamo descritto gli end point ecografici diagnostici della cute diabetica e soprattutto quelli che evidenziano la comparsa dell’ulcerazione. Materiali e Metodi Sono stati sottoposti allo studio 60 uomini e 60 donne, di 48-74 anni, affetti da lesioni cutanee del diabete mellito da oltre 10 anni. I risultati sono stati confrontati con 40 controlli. E’ stata utilizzata una sonda da 10 MHz e sono stati esaminati: lo spessore e l’ecogenicità del derma e dell’ipoderma e la microvascolarizzazione cutanea. Sono stati inoltre eseguiti gli studi analitici. Risultati. I parametri US registrano dai controlli, ai pazienti senza lesioni cutanee, con lesioni e ulcera, una progressiva diminuzione dello spessore e dell’ecogenicità del derma e dell’ipoderma. La microvascolarizzazione è presente al PD quando è presente la microangiopatia cutaneaa ed all’ECD quando su queste insorge l’ulcera. Discussione. I reperti permettono di distinguere l’attività della patologia diabetica cutanea in tre fasi a succesiva gravità clinico-ecografica. Queste offrono al clinico un mezzo strumentale per valutare la recrudescenza o la regressione del danno diabetico cutaneo

La sindrome dell’ovaio policistico: aspetti psicologici ed estetici in uno studio su 82 pazienti

Introduzione. La sindrome dell’ovaio policistico (PCOS) comprende disturbi della riproduzione, sindrome premestruale e danni estetici che possono essere percepiti come diversità e causare disagi psicologici. Scopo. Abbiamo ricercato il disagio e le tecniche sono state correlate per definire un solo end point diagnostico. La gravità clinica dei danni estetici è stata correlata con l’intensità del disagio. Materiali e metodi. Sono state studiate 82 pazienti, di 20-31 anni, affette da PCOS. Sono stati valutati i danni cutanei con la macrofotografia millimetrata, l’obesità con l’indice di massa corporea, il disagio con un colloquio ed i test Rorschach, Machover, Zung, Glass e percezione del sintomo. Risultati. I test hanno evidenziato presenza di ansia nell’84,14 -86,58% dei casi e di depressione nell’84,14% -86,58% dei casi con coartazione affettiva, inibizione, introversione, frustrazione, sintomi psicotici. Le correlazioni tra i test hanno evidenziato alta significatività. Discussione. I test ed il colloquio hanno evidenziato che nelle pazienti i danni possono promuovere idee di persecuzione, tratti paranoidei, sentimenti di devianza e favorire lo sviluppo di fobia sociale. Lo stato di disagio psicologico aumenta con il progredire della gravità clinica dei danni estetici. Conclusioni. Il test sulla percezione del sintomo può essere un endpoint diagnostico del disagio psicofisico nella PCOS. La regressione clinica della patologia dipende dall’interazione sociale della paziente e dalla sua qualità di vita, mentre potrebbe essere utile l’impiego della psicoterapia cognitiva interpersonale

Ultrasonographic bladder measurements can replace urodynamic study for the diagnosis of non-monosymptomatic nocturnal enuresis.

OBJECTIVE: To compare urodynamic (UD) and ultrasonography (US)-based measurements for the diagnosis and follow-up of patients with non-monosymptomatic primary nocturnal enuresis (NMPNE). PATIENTS AND METHODS: The study included 455 enuretic children (282 boys and 173 girls, mean age 9.58 years) with daytime voiding symptoms and with more than one void per night. In healthy children the upper limits for US-measured bladder wall thickness are 3 and 5 mm for a full or empty bladder, respectively. In 419 children the results showed urodynamic signs of an overactive bladder (OAB) and the US-measured bladder wall was thickened. After 6 months of antimuscarinic treatment, we re-assessed the children with US and UD; the relation between UD and US measurements was confirmed. After analysing these data, we considered the use of a new diagnostic assessment for patients with NMPNE. In children with a significant US measurement, i.e. a bladder wall with a thickness of >3 mm (full bladder) and >5 mm (empty bladder), the diagnostic assessment was concluded and therapy was started. We restricted the UD examination exclusively to those patients who either had severe intractable symptoms or did not respond to treatment. This new management was applied to 453 patients with NMPNE. After the first 6 months of therapy all the patients were assessed with a new US study. RESULTS: In all, 343 patients (75.7%) were full-responders, with a normal bladder wall thickness; 82 (18.1%) were partial responders but with no normalization of bladder wall thickness; only 28 (6.2%) were classified as nonresponders with a persistent thickened bladder wall. CONCLUSIONS: We favour a more conservative management: the UD study should be limited to the very few patients who either have severe intractable symptoms or do not respond to treatment. In our experience, the US study, which is not invasive, is useful for the diagnosis and follow-up of NMPNE and it is preferable to the UD study, which is invasive and often traumatic for children

The Role of Dual-Energy CT for the Assessment of Liver Metastasis Response to Treatment: Above the RECIST 1.1 Criteria

Imaging assessment of liver lesions is fundamental to predict therapeutic response and improve patient survival rates. Dual-Energy Computed Tomography (DECT) is an increasingly used technique in the oncologic field with many emerging applications. The assessment of iodine concentration within a liver lesion reflects the biological properties of the tumor and provides additional information to radiologists that is normally invisible to the human eye. The possibility to predict tumor aggressiveness and therapeutic response based on quantitative and reproducible parameters obtainable from DECT images could improve clinical decisions and drive oncologists to choose the best therapy according to metastasis biological features. Moreover, in comparison with standard dimensional criteria, DECT provides further data on the cancer microenvironment, especially for patients treated with antiangiogenic-based drugs, in which tumor shrinkage is a late parameter of response. We investigated the predictive role of DECT in the early assessment of liver metastasis response to treatment in comparison with standard dimensional criteria during antiangiogenetic-based therapy

Learning From Mistakes: Importance of a Multidisciplinary Group, A Case Report

There have been significant advances in the diagnosis and treatment of breast cancer over the past 20 years, due to increased knowledge about the biology and molecular changes in breast cancer. These advances have increased the complexity of treatment decision-making for individual women, and reinforced the need for a team approach to treatment decision-making. We report the case of an 80-year-old woman with a recidive invasive ductal breast carcinoma of high grade. In October 2015, she discovered an indolent breast bulk through self-examination and in the December of the same year, after the routine staging exams, she undergone a quadrantectomy and a limphoadenectomy. In March 2016, the patient was sent to our structure for a cycle of radiation therapy by her oncologist, even though a suspected lesion was seen on the thoracic wall on recent computed tomography scans. Our aim was to show an example about the importance of collaboration and multidisciplinary group in treating cancer

Imaging diagnosis of a rare case of intermittent intestinal pneumatosis: A consequence of ileocecal valve clip dysfunction?

ABSTRACT: Pneumatosis intestinalis is a condition characterized by the presence of gas or air pockets within the walls of the intestines. It can occur in any section of the gastrointestinal tract but it is most commonly found in the colon. Etiology and pathogenesis of PI are not yet fully understood, but several potential factors have been suggested to play a pivotal role in the development of this pathologic condition. Pneumatosis intestinalis seems to arise from a complex interplay between various factors, such as the integrity of the intestinal lining, pressure within the portal vein, the composition of the microbiological flora in the gut. Pneumatosis intestinalis can be caused by a variety of underlying conditions, such as bowel obstruction, intestinal ischemia, infection, inflammatory bowel disease, or certain medications. Symptoms may include abdominal pain, bloating, diarrhea, vomiting, and bloody stools. We present a case report of a 63-year-old male patient who underwent laparoscopic cholecystectomy for symptomatic cholelithiasis with recurrent cholecystitis. Following the surgery, the patient experienced a rapid drop in hemoglobin levels, necessitating an urgency regimen laparoscopic abdominal exploration which revealed Meckel's diverticulitis with active bleeding leading to diverticulectomy. The next day, the patient developed a radiological condition characterized by the co-presence of intermittent pneumatosis intestinalis, Portal pneumatosis and intermittent small bowel obstruction