What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors

Speech and Nature: An Introduction to the Study of Traditional Chinese Scholarship

378 p.Thesis (Ph.D.)--University of Illinois at Urbana-Champaign, 2008.An authentic introduction to the scholarship of traditional China must proceed through an uprooting of the ideological obstacles or peculiarly modern biases ordinarily preventing us from understanding writers of the pre-modern past as they understood themselves. As the upshot of the unfolding of modernity, our age is dominated by the systematic rejection (not merely a fateful forgetfulness) of the very possibility---explored in all seriousness throughout China's pre-modern past---of a form of scholarship that attains to permanent features of reality underlying the "external," spatio-temporal "life-world" ( Lebenswelt)1 of experience.This dissertation argues that in order to understand pre-modern scholarship as it understands itself we must first recover what the early-modern Enlightenment abandoned for us---namely a pre-modern understanding of free inquiry (reason) and its ultimate foundations. Given the modern understanding of reason and its foundations, the general problem of "evidence"---as of the "authority" standing over and above inquiry---is often felt to be impervious to reason. If reason cannot penetrate evidence (authority) to its "essence/heart," then reason must rely on some standpoint "external" to evidence from which to judge of evidence: it must rely on either norms or feelings. Here we find the basis for the enduring tension between the conventionalist ("positivist") and the antinomian ("existentialist") impulses of contemporary scholarship. On the one hand, the conventionalist appeal to established norms fails to contain antinomian forces expressing deep-seated dissatisfaction with the positivistic or legalistic elevation of fixed rules to the highest standard of right. On the other hand, antinomian thought fails to illuminate a basis for civil society.If our understanding of "evidence" is to escape both dogmatic conventionalism and nihilistic antinomianism, we must regain access to an inquiry that is not banned from the "interiority" of evidence: is there a civil freedom that does not forsake the possibility of discovering its own foundation as it is in itself?This dissertation responds to the threat of antinomianism, not by appealing to conceptual constructs or reinvented/re-appropriated traditions, but by reading Chinese pre-modern scholarship in search for a pre-modern understanding of the interplay of evidence/authority, reason/free-inquiry, and their ground.1Cf. Edmund Husserl. 1970 [1954]. The Crisis of the European Sciences and Transcendental Phenomenology [ Die Krisis der europaischen Wissenschaften und die transzendentale Phanomenologie ]. Northwestern UP: Evanston; esp. Part III: "The Clarification of the Transcendental Problem and the Related Function of Psychology," §29, 34, 37, 38, 44, 51.U of I OnlyRestricted to the U of I community idenfinitely during batch ingest of legacy ETD

Is Obesity a Risk Factor for Loss of Reduction in Children with Distal Radius Fractures Treated Conservatively?

Background: Obesity in children is a clinical and social burden. The distal radius (DR) is the most common site of fractures in childhood and conservative treatment is widely used. Loss of reduction (LOR) is the major casting complication. The aim of this study is to evaluate obesity as a risk factor for LOR in children with displaced DR fractures (DRF) treated conservatively. Methods: 189 children under 16 years of age were treated conservatively for DRF. Patients were divided into three groups: normal weight (NW), overweight (OW) and obese (OB). The following radiographic criteria were evaluated in all patients: amount of initial translation (IT); quality of initial reduction; Cast (CI), Padding (PI), Canterbury (CaI), Gap (GI) and Three-Points (3PI) indices and the presence of LOR. Results: Statistically significant differences were found between the NW and the OB group for number of LOR (p = 0.002), severity (grade) of initial translation (p = 0.008), quality of initial reduction (p = 0.01) as well as CsI and CaI (p < 0.001). Conclusions: Obese children have a significantly higher rate of LOR compared to NW and OW children. A close follow-up is necessary in this population of patients. Preventive percutaneous pinning could be considered in older obese patients in order to reduce the need for further treatment

Clinical Characteristics and Distribution of Pediatric Fractures at a Tertiary Hospital in Northern France: A 20-Year-Distance Comparative Analysis (1999–2019)

Background and objectives: The epidemiology and distribution of pediatric fractures change over time and are influenced by a multitude of factors including geography, climate, and population characteristics. The aims of our work were to study the distribution of traumatic pediatric orthopedic injuries admitted to the Lille University Hospital (LUH) Pediatric Emergency Department in 1999 and in 2019 and to analyze the epidemiological differences 20 years apart. Materials and methods: This was a retrospective, comparative, monocentric, and epidemiological study involving all children between 0 and 15 years and 3 months of age who consulted the pediatric emergencies of LUH from 1 January 1999 to 31 December 1999 and from 1 January 2019 to 31 December 2019. On admission, the following data were collected: sex, age at the time of injury, month and time of the day the trauma occurred (4:00 a.m to 11:59 a.m, 12:00 p.m. to 19:59 p.m, and 20:00 p.m to 3:59 a.m.), mechanism of injury, laterality (right or left), anatomical location, type of injury, and whether the fracture was closed or open. The type of treatment (orthopedic or surgical) was collected from the medical records. Results: A total of 939 children were included in 1999 compared with 781 in 2019 (21% decrease); the average age of children with fractures was significantly higher in 1999 (8.81 years) than in 2019 (7.19 years). This difference was explained by the majority involvement of older children (10–15 years) in 1999 (43% of fractures in 1999 versus 25% of fractures in 2019). Conversely, small children (1–5 years) had significantly more fractures in 2019 (36%) than in 1999 (24%). Conclusions: Overall, the types and sites of fractures did not change over the studied time despite a change in the population and mechanism of injury. This suggested that the reflexes of breaking a fall still tended to implicate and damage the same bone segments. Finally, the proportion of fractures managed surgically versus orthopedically has not evolved since 1999. Exploring this is a possible area of further research that would complement our study

Results of the Italian Pediatric Orthopedics Society juvenile flexible flatfoot survey

To collect and analyze current diagnosis and treatment options of symptomatic flexible flatfoot (FFF), as well as to identify treatment expectations, among the members of the Italian Pediatric Orthopedics Society (SITOP)

Results of the Italian Pediatric Orthopedics Society juvenile flexible flatfoot survey: diagnosis and treatment options

To collect and analyze current diagnosis and treatment options of symptomatic flexible flatfoot (FFF), as well as to identify treatment expectations, among the members of the Italian Pediatric Orthopedics Society (SITOP)