L’elastofibroma dorsi: descrizione di un caso clinico e analisi della letteratura

L’elastofibroma dorsi (ED) è una rara neoformazione benigna della parete toracica situata quasi sempre in sede infrascapolare, profondamente al piano muscolare. Prevale nettamente nelle donne in età avanzata ed è spesso bilaterale. È ancora discusso se debba essere considerata una neoplasia vera oppure una semplice risposta proliferativa del tessuto connettivo a sollecitazioni meccaniche ripetute. Data la sua rarità, nonostante abbia caratteristiche piuttosto peculiari, non è sempre facile distinguerlo da altri tumori maligni e benigni dei tessuti molli e tali incertezze possono ripercuotersi negativamente sulle scelte terapeutiche. Viene descritto il caso clinico di una donna di 51 anni che da alcuni mesi presentava una tumefazione infrascapolare destra associata a dolore e sensazione di scatto durante l’esecuzione di alcuni movimenti del braccio. All’esame clinico ed ecotomografico la lesione era compatibile con un comune lipoma profondo del dorso, mentre il successivo riscontro intraoperatorio faceva propendere per un sarcoma a partenza dal piano costale. L’intervento è consistito comunque nella semplice exeresi della neoformazione con rispetto delle strutture apparentemente infiltrate. Il successivo esame istologico risultava dimostrativo per ED. Concludendo, in presenza di una tumefazione con sede infrascapolare l’ED deve essere sempre considerato tra le possibili diagnosi differenziali, soprattutto nei pazienti di sesso femminile ed in età avanzata. Trattandosi di una neoformazione benigna, l’indicazione chirurgica subentra solo nei casi sintomatici o con tumefazioni voluminose

De Garengeot hernia with acute appendicitis

Aim. The presence of the appendix within a femoral hernia sac is a rare condition known as De Garengeot hernia. We report a case of De Garengeot hernia with concomitant appendicitis and a brief review of the literature on the pathogenesis, diagnosis and treatment of this uncommon condition. Case report. A 33 year-old woman was admitted to our Surgical Unit with acute-onset pain and swelling in the right groin region. Clinical signs and ultrasound imaging suggested the presence of a strangulated femoral hernia and the patient was operated on in emergency setting. An inflamed appendix was discovered within the hernia sac. Appendectomy via McBurney incision and prosthetic repair of the femoral ring were performed. The postoperative course was uneventful and at the 2 week and 1 year follow-up no signs of wound infection and no hernia recurrence were found. Conclusion. Since clinical signs are non-specific and radiological findings may often be misinterpreted, appendicitis within a femoral hernia sac is often an incidental finding during an emergency operation for strangulated femoral hernia. Appendectomy-associated hernia repair may be performed with or without prosthesis depending on the extent of surgical field contamination

Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?

<p>Abstract</p> <p>Background</p> <p>Diagnosis of multiple endocrine neoplasia type 1 (MEN1) is commonly based on clinical criteria, and confirmed by genetic testing. In patients without known MEN1-related germline mutations, the possibility of a casual association between two or more endocrine tumors cannot be excluded and subsequent management may be difficult to plan. We describe a very uncommon case of functioning glucagonoma associated with primary hyperparathyroidism (pHPT) in which genetic testing failed to detect germline mutations of <it>MEN-1</it> and other known genes responsible for MEN1.</p> <p>Case presentation</p> <p>The patient, a 65-year old woman, had been suffering for more than 1 year from weakness, progressive weight loss, angular cheilitis, glossitis and, more recently, skin rashes on the perineum, perioral skin and groin folds. After multidisciplinary investigations, functioning glucagonoma and asymptomatic pHPT were diagnosed and, since family history was negative, sporadic MEN1 was suspected. However, genetic testing revealed neither <it>MEN-1</it> nor other gene mutations responsible for rarer cases of MEN1 (<it>CDKN1B</it>/p27 and other cyclin-dependent kinase inhibitor genes <it>CDKN1A</it>/p15, <it>CDKN2C</it>/p18, <it>CDKN2B</it>/p21). The patient underwent distal splenopancreatectomy and at the 4-month follow-up she showed complete remission of symptoms. Six months later, a thyroid nodule, suspected to be a malignant neoplasia, and two hyperfunctioning parathyroid glands were detected respectively by ultrasound with fine needle aspiration cytology and ^99mTc-sestamibi scan with SPECT acquisition. Total thyroidectomy was performed, whereas selective parathyroidectomy was preferred to a more extensive procedure because the diagnosis of MEN1 was not supported by genetic analysis and intraoperative intact parathyroid hormone had revealed “adenoma-like” kinetics after the second parathyroid resection. Thirty-nine and 25 months after respectively the first and the second operation, the patient is well and shows no signs or symptoms of recurrence.</p> <p>Conclusions</p> <p>Despite well-defined diagnostic criteria and guidelines, diagnosis of MEN1 can still be challenging. When diagnosis is doubtful, appropriate management may be difficult to establish.</p

A Fecal MicroRNA Signature by Small RNA Sequencing Accurately Distinguishes Colorectal Cancers: Results From a Multicenter Study

Background &amp; aims: Fecal tests currently used for colorectal cancer (CRC) screening show limited accuracy in detecting early tumors or precancerous lesions. In this respect, we comprehensively evaluated stool microRNA (miRNA) profiles as biomarkers for non-invasive CRC diagnosis. Methods: A total of 1,273 small RNA sequencing experiments were performed in multiple biospecimens. In a cross-sectional study, miRNA profiles were investigated in fecal samples from an Italian and a Czech cohort (155 CRC, 87 adenomas, 96 other intestinal diseases, 141 colonoscopy-negative controls). A predictive miRNA signature for cancer detection was defined by a machine learning strategy and tested in additional fecal samples from 141 CRC and 80 healthy volunteers. miRNA profiles were compared with those of 132 tumor/adenoma paired with adjacent mucosa, 210 plasma extracellular vesicles samples, and 185 fecal immunochemical tests (FIT) leftover samples. Results: Twenty-five miRNAs showed altered levels in stool of CRC patients in both cohorts (adj. P&lt;.05). A five-miRNA signature, including miR-149-3p, miR-607-5p, miR-1246, miR-4488, and miR-6777-5p, distinguished patients from controls (AUC=0.86, 95% CI=0.79-0.94) and was validated in an independent cohort (AUC=0.96, 95% CI=0.92-1.00). The signature classified controls from low-/high-stage tumors, and advanced adenomas (AUC=0.82, 95% CI=0.71-0.97). Tissue miRNA profiles mirrored those of stool samples, while fecal profiles of different gastrointestinal diseases highlighted miRNAs specifically dysregulated in CRC. miRNA profiles in FIT leftover samples showed good correlation with those of stool collected in preservative buffer and their alterations can be detected in adenoma or CRC patients. Conclusions: Our comprehensive fecal miRNome analysis identified a signature accurately discriminating cancer aimed at improving a non-invasive diagnosis and screening strategies

Rationale, design, and baseline characteristics in Evaluation of LIXisenatide in Acute Coronary Syndrome, a long-term cardiovascular end point trial of lixisenatide versus placebo

BACKGROUND: Cardiovascular (CV) disease is the leading cause of morbidity and mortality in patients with type 2 diabetes mellitus (T2DM). Furthermore, patients with T2DM and acute coronary syndrome (ACS) have a particularly high risk of CV events. The glucagon-like peptide 1 receptor agonist, lixisenatide, improves glycemia, but its effects on CV events have not been thoroughly evaluated. METHODS: ELIXA (www.clinicaltrials.gov no. NCT01147250) is a randomized, double-blind, placebo-controlled, parallel-group, multicenter study of lixisenatide in patients with T2DM and a recent ACS event. The primary aim is to evaluate the effects of lixisenatide on CV morbidity and mortality in a population at high CV risk. The primary efficacy end point is a composite of time to CV death, nonfatal myocardial infarction, nonfatal stroke, or hospitalization for unstable angina. Data are systematically collected for safety outcomes, including hypoglycemia, pancreatitis, and malignancy. RESULTS: Enrollment began in July 2010 and ended in August 2013; 6,068 patients from 49 countries were randomized. Of these, 69% are men and 75% are white; at baseline, the mean ± SD age was 60.3 ± 9.7 years, body mass index was 30.2 ± 5.7 kg/m(2), and duration of T2DM was 9.3 ± 8.2 years. The qualifying ACS was a myocardial infarction in 83% and unstable angina in 17%. The study will continue until the positive adjudication of the protocol-specified number of primary CV events. CONCLUSION: ELIXA will be the first trial to report the safety and efficacy of a glucagon-like peptide 1 receptor agonist in people with T2DM and high CV event risk