The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism

All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the nationwide newborn screening programme, the prompt treatment and the appropriate clinical management of the patients carried out by the Follow-up Centres, and the surveillance of the disease performed by the National Register of infants with congenital hypothyroidism are the components of an integrated approach to the disease which has been successfully established in our country

Comparative Effectiveness of Treatment Strategies for Squamous Cell Carcinoma of the Bladder.

BACKGROUND: While there is established evidence supporting the use of radical cystectomy (RC) and perioperative chemotherapy for muscle-invasive urothelial carcinoma of the bladder, such evidence does not exist for squamous cell carcinoma. OBJECTIVE: We present the largest study to date of patients with squamous cell carcinoma and compare the effectiveness of possible treatment regimens for overall survival. DESIGN, SETTING, AND PARTICIPANTS: The National Cancer Data Base was queried for cases of localized, muscle-invasive pure squamous cell bladder cancer, classified as clinical stage T2/3N0M0. Permutations of surgery (RC), chemotherapy, and external beam radiation were selected. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: A multinomial propensity score method was used to create treatment weights based on clinical characteristics predicting the probability of treatment receipt. These were then applied in weighted Cox proportional hazards models to assess the comparative effectiveness of treatments for overall survival, adjusting for age, TNM clinical stage, Charlson comorbidity index, race, sex, and facility and county level variables. RESULTS AND LIMITATIONS: A total of 828 cases were included, comprising 465 RC alone, 53 neoadjuvant chemotherapy+RC, 48 RC+adjuvant chemotherapy, 72 chemotherapy alone, 88 radiation alone, and 102 chemoradiation cases. On weighted regression, RC treatment with or without perioperative chemotherapy was associated with significantly better overall survival compared to the other treatment modalities; chemotherapy alone, radiation alone, and chemoradiation were associated with a hazard ratio (HR) of death of 2.43 (95% confidence interval [CI] 1.65-3.59), 4.78 (95% CI 3.33-6.86), and 1.61 (95% CI 1.16-2.25), respectively, compared to RC alone (all p CONCLUSIONS: RC with or without perioperative chemotherapy should be considered an upfront therapy for squamous cell carcinoma of the bladder. PATIENT SUMMARY: Using a national database, we compared treatments for muscle-invasive squamous cell bladder cancer. Patients undergoing radical cystectomy with or without chemotherapy had longer survival. Radical cystectomy with or without chemotherapy should be the standard of care for this disease

PERITONEL MESOTHELIOMA IN A CASE OF INGUINAL HERNIA. A REVIEW OF THE LITERATURE

Abstract The peritoneal mesothelioma (PM) is a rare, benign or malignant, primary tumour, arising from the peritoneal membrane. The most frequent histological form is the malignant one with an incidence of 2-2.6 new cases per million per year. The symptomatology is insidious and poses difficult problems in the diagnosis and the treatment. Instrumental diagnostic investigations are useful only in the diagnostic orientation. Only the pathologic examination allows to distinguish a peritoneal carcinomatosis from PM. The prognosis of MPM is pour. An intense multimodal therapy, combining surgery with CT and RT, increases the survival rates in the patients with MPM. It has been proposed that hernia of abdominal wall play a role in the pathogenesis of this tumor. We believe that hypothesis seems unlikely considering the enormous discrepancy between the incidence of hernial pathology and PM

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

Germline mutations in PTPN11—the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2—represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects. Like many autosomal dominant disorders, a significant percentage of NS cases appear to arise from de novo mutations. Here, we investigated the parental origin of de novo PTPN11 lesions and explored the effect of paternal age in NS. By analyzing intronic portions that flank the exonic PTPN11 lesions in 49 sporadic NS cases, we traced the parental origin of mutations in 14 families. Our results showed that all mutations were inherited from the father, despite the fact that no substitution affected a CpG dinucleotide. We also report that advanced paternal age was observed among cohorts of sporadic NS cases with and without PTPN11 mutations and that a significant sex-ratio bias favoring transmission to males was present in subjects with sporadic NS caused by PTPN11 mutations, as well as in families inheriting the disorder