Experience of 170 cases of ductal carcinoma in ' (DCIS)

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Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

ABSTRACT: BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. METHODS: Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. RESULTS: We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. CONCLUSIONS: This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management

Holistic Approach for Improved Safety Including a Proposal of New Virtual Test Conditions of Small Electric Vehicles

In the next 20 years the share of small electric vehicles (SEVs) will increase especially in urban areas. SEVs show distinctive design differences compared to traditional vehicles. Thus the consequences of impacts of SEVs with vulnerable road users (VRUs) and other vehicles will be different from traditional collisions. No assessment concerning vehicle safety is defined for vehicles within European L7e category currently. Focus of the elaborated methodology is to define appropriate test scenarios for this vehicle category to be used within a virtual tool chain. A virtual tool chain has to be defined for the realization of a guideline of virtual certification. The derivation and development of new test conditions for SEVs are described and are the main focus of this work. As key methodology a prospective methodical analysis under consideration of future aspects like pre-crash safety systems is applied. The studies show that certain collision types will be reduced in numbers and in average collision severity. Based on the evaluation following tests are proposed. Frontal: oblique (30°), test speed 35 km/h, 1,300kg Mobile Progressive Deformable Barrier (MPDB); Side: 90°, Advanced European Mobile Deformable Barrier (AE-MDB), barrier speed 40 km/h; Pedestrian safety: seven pedestrian impact locations, 2 speed ranges, four different percentiles. The proposed virtual testing procedure has to be based on well validated models and tools, which can be assumed to be available in the future. The focus of the presented work is on SEVs in L7e category, for which no specific, urban area relevant safety regulations are available. Overall occupant and VRU safety of future SEVs will increase significantly, if additionally to the standard crash tests the elaborated tests from the European Union (EU) initiative SafeEV are applied for the design of safety measures within L7e vehicle class

Transaxillary robotic-assisted thyroid surgery: Technique and results of a preliminary experience on the da Vinci Xi platform

Background: Robotic thyroidectomy by transaxillary approach (RATS) is regarded as a feasible and safe alternative procedure in selected patients with benign disease or thyroid cancer of low risk, facilitating thyroidectomy with respect to conventional endoscopic approach and offering improved cosmetic results. The Da Vinci Xi surgical system (Intuitive Surgical, Sunnyvale, CA, USA) presents technical advantages over its previous generations, including overhead docking, more compact robotic arms, extended range of motion, and ability for camera to be docked in any arm. This construct supports dissection in smaller spaces with less arm interference and improved view. We present an initial experience of RATS on DVSS Xi in an academic Centre in Italy. Methods: We conducted a prospective observational study, involving patients with thyroid disease and treated between April 2016 and January 2018. A modified thyroidectomy retractor (Modena retractor, CEATEC Medizintechnik, Germany) was used to lift a musculocutaneous flap and operate gasless. Instrument placement was recorded for each procedure. Each procedure description was broken down into three phases, creation of working space, machine docking with instrument positioning and endoscopic operating technique. Duration of cases was recorded. Patients selected were young women, BMI < 30, thyroid nodule < 5 cm, cytology TIR2 to TIR4 (TIR4:only nodules < 1 cm diameter). Results: Twelve RATS were performed within the learning curve for the robotic technique, 10 lobectomies and 2 total thyroidectomies. No patients required reintervention. Mean duration of surgery was 198.9 min for lobectomy and 210 for thyroidectomy. The same surgical team performed all procedures. No patients presented surgery-related complications, mean stay was 3 days. Decrease in operating time was observed after 8 cases along with more precise preparation of working space. Four arms were used in the first 10 procedures then only three. No recurrent laryngeal nerve dysfunction, no seroma or haematoma were recorded. One patient had transient hypocalcaemia after total thyroidectomy. Conclusions: Since the early phases of a preliminary experience RATS appeared a safe alternative to open thyroidectomy. Uptake of technique was quick on Xi platform with few technical tweaks over techniques described for Si machines. Careful patient selection is crucial. Trial registration: Retrospectively registered on 20 july 2018. Trial registration number: researchregistry4272. The Research Registry: https://www.researchregistry.com/browse-the-registry#home/registrationdetails/5b517f08dbc2045aefd7f9b4

Correlation between fetal movement revealed in actography and fetal-neonatal well-being: observational study on 3,805 pregnancies followed in a Northern Italy tertiary care hospital.

PURPOSE OF INVESTIGATION: To evaluate the correlation between fetal movement revealed in cardiotocography and fetal-neonatal well-being as well as to assess the value of cardiotocography in our clinical practice. METHODS: Retrospective analysis of 3,805 pregnancies followed at Parma General Hospital. Exclusion criteria were cesarean section, preterm delivery, and stillbirth. We analyzed the predictive power of actography during the dilating and expulsive phases of labor by establishing a correlation between number of fetal movements and our neonatal indexes of well being, i.e., cardiotocographic score, Apgar index and neonatal pH value. Statistical tests used were Fisher's test, chi-square test (X2), Pearson correlation and Spearman Rho; p value was considered significant if it was less than 0.05. RESULTS: We considered 2,389 vaginal deliveries. Analyzing the correlation between fetal movement and cardiotocographic score in the two different phases of labor, the comparison among subpopulations identified by different cardiotocograph scores revealed no statistical difference. CONCLUSION: Cardiotocography is reconfirmed as a good instrument to evaluate neonatal outcome, while actigraphy cannot be used alone to define fetal well-being, mainly due to the inability to standardize assessment of the actographic study