97 research outputs found
The emerging complexity of Open Science: assessing Intelligent Data Openness in Genomic Anthropology and Human Genomics
No full textIn recent decades, the scientific community has become aware of the importance of science being effectively open in order to speed up scientific and technological progress. In this context, the achievement of a robust, effective and responsible form of data sharing is now widely acknowledged as a fundamental part of the research process. The production and resolution of human genomic data has steadily increased in recent years, mainly due to technological advances and decreasing costs of DNA genotyping and sequencing. There is, however, a downside to this process due to the huge increase in the complexity of the data and related metadata. This means it is advisable to go beyond traditional forms of sharing analysis, which have focused on data availability only. Here we present a pilot study that aims to complement a survey on the availability of data related to peer-reviewed publications with an analysis of their findability, accessibility, useability and assessability (according to the “intelligent data openness” scheme). Sharing rates in genomic anthropology (73.0%) were found to be higher than human genomics (32.4%), but lower than closely related research fields (from 96.8% to 79.2% for paleogenetics and evolutionary genetics, respectively). We discuss the privacy and methodological issues that could be linked to this finding. Comparisons of sharing rates across a wide range of disciplines has suggested that the idea of human genomics as a forerunner for the open data movement should be questioned. Finally, both in genomic anthropology and human genomics, findability and useability were found to be compliant with the expectations of an intelligent data openness, whereas only a minor part of studies met the need to make the data completely assessable
The practice of anal dilations following anorectal reconstruction in patients with anorectal malformations : an international survey
No full textPurpose The objective of this study was to investigate the current practices of anal dilations after anorectal reconstruction for anorectal malformations (ARMs) in different centers. Materials and Methods An online survey, consisting of 27 questions about the practice of anal dilations, was launched in March 2015 among 54 pediatric surgeons with expertise in colorectal surgery. The survey was divided into three sections. The first section included questions regarding the country of origin, the role in the department, the average number of ARM cases treated per year, and the surgical approach used to repair ARMs. The second section was accessible only for surgeons who perform anal dilations and enquired about their modality of performing anal dilations-their attitude toward complications such as rectal prolapse, bleeding, or perineal dehiscence occurring during dilations-and about the incidence of rectal prolapse and/or anal stenosis, which required surgical repair, in their series of patients with ARMs. The third section was accessible only for surgeons who do not perform anal dilations and enquired the incidence of rectal prolapse and/or anal stenosis that required surgical repair in their series of patients with ARMs. Results A total of 36 pediatric surgeons from 20 countries completed the survey. All participants performed anal dilations. Twenty-five (70%) surgeons performed the first dilation 14 days after anorectal reconstruction; 30 (83%) surgeons performed it in the outpatient clinic; 34 (94%) surgeons used metal dilators and 30 (83%) surgeons lubricated the dilator with an anesthetic/steroid-free ointment; 21 (59%) surgeons tailored the first dilator size to the specific anatomical features of each patient; 27 (75%) surgeons used 1-mm-diameter increments in the dilator size and 22 (61%) surgeons increased the size weekly; 16 (45%) surgeons followed up with the patients weekly until the proper dilator size was reached. This was determined according to Peña's protocol by 25 (70%) surgeons: 23(64%) surgeons initially performed dilations twice daily; 24(66%) surgeons tapered the frequency of dilations once the desired caliber was reached. No general agreement exists in the management of complications such as rectal prolapse, bleeding, or perineal dehiscence occurring during dilations. Incidence of rectal prolapse and anal stenosis was reported less than 5%, respectively, by 25(70%) and 29(81%) respondents. Conclusion Anal dilations for ARM are performed worldwide according to different modalities. Prospective and randomized clinical trials could be useful to establish a standardized protocol
Appendicitis in a 14-month-old infant with respiratory symptoms
No full textAlthough appendicitis is the condition that most commonly requires emergent abdominal surgery in the paediatric population, less than 2% of the disease occurs in infants and it is even more uncommon in neonates. In this report, we describe a rare case of a 14-month-old child presenting with abdominal pain first diagnosed with upper respiratory tract infection and then admitted to our Paediatric Surgery Department with a final diagnosis of acute appendicitis. A particular attention has to be kept on children presenting with an upper respiratory tract infection since symptoms can mask abdominal signs. Due to high morbidity and mortality rate related to a delayed diagnosis, appendicitis always has to be considered as a possible diagnosis, in order to ensure a prompt treatment
Surgical treatment of toraco-abdominal teratoma diagnosed in utero, approached with mini-invasive technique: A case report
No full textThoracic tumours of childhood arise either in the mediastinum, or from the chest wall and rarely from the lung parenchyma. Mediastinal teratoma occur in the anterior mediastinum and are usually very large at presentation; initial treatment is under discussion, but it appears that surgical excision and histological examination are the treatments of choice and it will determine whether the lesion is benign or malignant. The authors report a case of thoracic-abdominal teratoma, diagnosed in utero, and treated successfully with thoracoscopy and laparoscopy. No complication was described in short follow up, and the child was discharged in day 8 th postoperative day. Histology showed mature teratoma. Follow-up at one year: no evidence of recurrence. Due to the rarity of multifocal teratoma in newborns, author believe that mini-invasive technique was useful to stage histological the mass, giving the opportunity to plans a second stage in treatment of the patient. Day of hospitalization resulted shorter in both surgical approaches, and discomfort less for the thoracic approach. This staging must be anyway planned, in the way of prenatal counselling and in the perinatal period, with the team involved in the procedure, that include anaesthetists, oncology staff, obstetricians, neonatologists and pediatric surgeons. It is mandatory in cases like the one reported that a multisciplinary team manage the patients and expert surgeons, especially in minimal invasive surgery, make the adequate plans
OFFERTA IMPRENDITORIALE ALLA COMMITTENZA PUBBLICA
No full textedito dall'Istituto di Edilizia e Unioncamere delle Marche Ancona 198
ASPETTI STRUTTURALI E LINEE EVOLUTIVE DELLE IMPRESE DI COSTRUZIONI
No full textedito dall'Istituto di Edilizia e Unioncamere delle Marche, Ancona 198
A Single-Center Experience with Very Low Birth Weight Infants and Focal Intestinal Perforation : Comparison of Primary Anastomosis versus Stoma Opening
No full textIntroduction We present a single-center experience with very low birth weight (VLBW) infants with focal intestinal perforation (FIP), comparing the results of primary anastomosis (PA) and stoma opening (SO). Materials and Methods Clinical records of VLBW infants with FIP who underwent surgery between 2006 and 2015 were reviewed. Patients were divided into two groups according to the procedure performed: limited bowel resection and PA or SO. Patients with gastric perforation or patients who underwent clip and drop were excluded. Information regarding birth weight (BW), gestational age (GA), weight at surgery (WS), number of abdominal reoperations, duration of parenteral nutrition (PN), and demise was recorded. Results In this study, 40 patients were included: 22 in PA group and 18 in SO group. BW was 865 g in PA and 778 in SO ( p -value: 0.2). GA was 26.1 weeks in PA and 25.6 in SO ( p -value: 0.3). WS was 1,014 g in PA and 842 in SO ( p -value: 0.09). Duration of surgery was 115 minutes in PA and 122 in SO ( p -value: 0.67). Five patients (23%) belonging to PA group developed complications and required SO. Five patients (23%) demised in PA group and six (33%) in SO ( p -value: 0.2). Seventeen abdominal reoperations were performed in PA group and 22 in SO group ( p -value: 0.08). Conclusion Both procedures appear to be safe. When possible, PA should be performed as it reduces the number of abdominal reinterventions
Anorectal malformations with good prognosis: Variables affecting the functional outcome
No full textBackgroud/Purpose The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis. Methods Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery. Results 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p = 0.0029 and p = 0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, p = 0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p = 0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p = 0.014). Conclusions Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients
Ectopic thymus presenting as neck mass in a neonate : a case report
No full textNeck masses are rare in newborns and can represent a big challenge for the paediatric surgeons. Different histological types are reported in the recent literature; while 80% of neck masses are benign, the pediatric surgeon is often called upon to assist in the evaluation, diagnosis and treatment. A two-month old baby was evaluated for an asymptomatic left sided cervical mass, presented at birth, which slowly increased in size. A magnetic resonance imaging scan was performed, with evidence of capsulated solid neck mass, lateral to the sternocleidomastoid muscle, not including the major vassel structures of the neck. The patient underwent surgical excision in the criteria to define the histology of the mass. A well capsulated mass was detected at surgery. At histology, an ectopic cervical thymus tissue was reported. The ectopic cervical thymus is an uncommon entity with only 91 cases reported; only nine occurred in infants, two in the neonatal period. According to the authors, in case of enlarging solid neck mass with unclear imaging or clinical data, complete surgical resection is the only and safe procedure to perform
Static and Moving Frontiers: The Genetic Landscape of Southern African Bantu-Speaking Populations
No full textA consensus on Bantu-speaking populations being genetically similar has emerged in the last few years, but the demographic scenarios associated with their dispersal are still a matter of debate. The frontier model proposed by archeologists postulates different degrees of interaction among incoming agropastoralist and resident foraging groups in the presence of "static" and "moving" frontiers. By combining mitochondrial DNA and Y chromosome data collected from several southern African populations, we show that Bantu-speaking populations from regions characterized by a moving frontier developing after a long-term static frontier have larger hunter-gatherer contributions than groups from areas where a static frontier was not followed by further spatial expansion. Differences in the female and male components suggest that the process of assimilation of the long-term resident groups into agropastoralist societies was gender biased. Our results show that the diffusion of Bantu languages and culture in Southern Africa was a process more complex than previously described and suggest that the admixture dynamics between farmers and foragers played an important role in shaping the current patterns of genetic diversity
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