Search results for " Distal"

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

2021

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, a…

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in fem…

2021

Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals…

P2Y-mediated contractile responses in the longitudinal muscle of mouse distal colon: distinct signaling pathways

2008

Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

2019

ObjectivesA few variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been described, but their frequency and evolution to typical CIDP remain unclear. To determine the frequency and characteristics of the CIDP variants, their possible evolution to typical CIDP, and treatment response.MethodsWe applied a set of diagnostic criteria to 460 patients included in a database of Italian patients with CIDP. Clinical characteristics and treatment response were reviewed for each patient. The Kaplan-Meier curve was used to estimate the progression rate from atypical to typical CIDP.ResultsAt the time of inclusion, 376 (82%) patients had a diagnosis of typical CIDP while 84 …

Residual vein obstruction in patients diagnosed with acute isolated distal deep vein thrombosis associated with active cancer.

2018

After acute proximal deep vein thrombosis (DVT) the thrombotic mass decreases, especially during the first months of anticoagulation. The persistence of residual vein obstruction (RVO) may predict future recurrence in patients with cancer-associated DVT. We aimed to evaluate the proportion of patients with RVO after an episode of cancer associated isolated distal DVT (IDDVT), to identify variables associated with RVO, and to provide initial evidence of its association with recurrent VTE. We performed a post-hoc analysis of a multicenter cohort study of patients with isolated cancer-associated acute IDDVT. We included patients who underwent a control ultrasonography at the end of the anticoa…

Management of Distal Radius Fractures in the Elderly Patients

2015

Distal radius fractures are one of the most common injuries treated by the orthopedic surgeons representing almost 1/6 of the fractures that are treated in the emergency departments and the 75% of all fractures of the upper limb and are second only to hip fractures in elderly population. The age distribution of this kind of injury is typically bimodal with peaks in the young patients (6-25) and in the elderly patients older than 65. In the first case the mechanism of injury is usually a high energy trauma, such as a car accident, whilst in the second one is usually a low energy trauma like a domestic fall. Various classification systems have been proposed for these fractures. The classic ep…

The current state of the art of angle-stable volar plating in the treatment of distal epiphisis fractures

2011

Utilidad de la ecografía Doppler infrapoplítea en pacientes con sospecha de enfermedad tromboembólica venosa

2017

La enfermedad tromboembólica venosa (ETEV) es una enfermedad vascular compleja con una patogénesis multifactorial. Su importancia radica en su alta prevalencia y en la morbimortalidad asociada. Agrupa dos presentaciones clínicas mayores, la más frecuente es la trombosis venosa profunda (TVP) y la más temida por su riesgo de mortalidad es el tromboembolismo pulmonar (TEP). Se identifican principalmente dos localizaciones de TVP en los miembros inferiores (MMII): la trombosis proximal (TP) cuando afecta a las venas profundas del hueco poplíteo y proximales a éste, y la trombosis distal cuando afecta a las venas profundas y musculares de la pantorrilla. La trombosis distal puede darse de forma…

Survival and recurrent venous thromboembolism in patients with first proximal or isolated distal deep vein thrombosis and no pulmonary embolism

2017

Essentials The long-term risk of recurrence and death after distal deep vein thrombosis (DVT) is uncertain. We included subjects with first proximal or isolated distal DVT (IDDVT) and no pulmonary embolism. The risk of symptomatic and asymptomatic recurrence is lower after IDDVT (vs. proximal). IDDVT may be associated with a lower long-term risk of death, especially after unprovoked DVT. SummaryBackground A few studies have focused on the risk of recurrence after first acute isolated distal deep vein thrombosis (IDDVT) compared with proximal DVT (PDVT), whereas the incremental risk of death has never been explored beyond the first 3 years after acute event. Methods Our single-center cohort …

Modular megaprosthesis reconstruction for oncological and non-oncological resection of the elbow joint

2016

Abstract Background Reconstruction of large bone defects around the elbow joint is surgically demanding due to sparse soft tissue coverage, complex biomechanics and the close proximity to neurovascular structures. Modular megaprostheses are established reconstruction tools for the elbow, but only small case series have been reported in the literature. Methods Thirty-six patients who underwent reconstruction of the elbow joint with a modular megaprosthesis were reviewed retrospectively. In 31 patients (86.1%), elbow replacement was performed after resection of a bone tumour, whereas five non-oncological patients (13.9%) underwent surgery because of a previous failed elbow reconstruction. Fun…