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MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5-1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients' quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary "yes or no" questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients' quality of life and savings for the health care system of about 9 million euros per year.

Background Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases. Objective To search for disease-causing mutations in a large series of Italian patients with HSP. Design Samples of DNA were analyzed by direct sequencing of all exons in SPG4 . Samples from a subset of patients were also analyzed by direct sequencing of all exons in SPG3A, SPG6, SPG10 , and SPG13 . Setting Molecular testing facility in Italy. Patients Sixty unrelated Italian patients with pure (n = 50) and complicated (n = 10) HSP. Main Outcome Measures Mutations in SPG4, SPG3A, SPG6, SPG10 , and SPG13 . Results We identified 12 different mutations, 8 of which were novel, in 13 patients. No mutations of any of the other HSP genes tested were found in 15 patients with sporadic pure HSP who did not have mutations in the SPG4 gene. Conclusions The overall rate of mutation in the SPG4 gene within our sample was 22%, rising to 26% when only patients with pure HSP were considered. The negative result obtained in 15 patients without mutations in SPG4 in whom 4 other genes were analyzed ( SPG3A, SPG6, SPG10 , and SPG13 ) indicate that these genes are not frequently mutated in sporadic pure HSP.

We wish to report here a practical approach to an acute respiratory distress syndrome (ARDS) patient as devised by a group of intensivists with different expertise. The referral scenario is an intensive care unit of a Community Hospital with limited technology, where a young doctor, alone, must deal with this complicate syndrome during the night. The knowledge of pulse oximetry at room air and at 100% oxygen allows to estimate the PaO2 and the cause of hypoxemia, shunt vs. VA/Q maldistribution. The ARDS severity (mild [200PaO2/FiO2≤300], moderate [100PaO2/FiO2≤200] and severe [PaO2/FiO2≤100]) must be immediately assessed. Noninvasive ventilation should be attempted in mild ARDS only. Possible errors due to inappropriate premature intubation are preferable to a delayed intubation. In moderate and severe ARDS tracheal intubation associated with heavy sedation/muscle relaxation allows to fully characterize the patient. A tidal volume of 6 mL/kg predicted body weight is recommended, either in pressure or volume control ventilation. Tailoring tidal volume on residual functional capacity, however, is preferable. Plateau pressure greater than 30 cmH2O is acceptable only if chest wall compliance is decreased. In this case maximal attention must be devoted to the hemodynamics. PEEP from 5 to 10, from 10 to 15 and greater than 15 cmH2O should be set in mild, moderate and severe ARDS, respectively. Prone position should be applied in severe ARDS, if experience is available. In case of unchanged conditions or increased ARDS severity a referral center should be contacted.

Aim: To evaluate the impact of a virtual educational camp (vEC) on glucose control in children and adolescents with type 1 diabetes using a closed-loop control (CLC) system. Materials and Methods: This was a prospective multicentre study of children and adolescents with type 1 diabetes using the Tandem Basal-IQ system. Insulin pumps were upgraded to Control-IQ, and children and their parents participated in a 3-day multidisciplinary vEC. Clinical data, glucose metrics and HbA1c were evaluated over the 12 weeks prior to the Control-IQ update and over the 12 weeks after the vEC. Results: Forty-three children and adolescents (aged 7-16 years) with type 1 diabetes and their families participated in the vEC. The median percentage of time in target range (70-180 mg/dL; TIR) increased from 64% (interquartile range [IQR] 56%-73%) with Basal-IQ to 76% (IQR 71%-81%) with Control-IQ (P&nbsp