Search results for "abnormal"

Optic nerve hypoplasia and internal carotid artery hypoplasia: a new association

2017

Orthopedic-orthodontic treatment of the patient with Turner's syndrome: Review of the literature and case report.

2018

Aims Turner syndrome (TS) patients have phenotypical variable presentations and they are more susceptible to endocrine, auto-immune, and structural anomalies. Typical clinical characteristics are short stature and premature ovarian insufficiency. Patients with TS show a typical cranial-facial morphology with bi-maxillary bi-retrusion, high-arched palate, micrognathia, and class II malocclusion. Aim of our study is to present the orthopedic-orthodontic treatment approach of a young TS patient and data of stability after 7 years. Methods and results A careful analysis of anamnestic data was performed. After extraoral and intraoral examination, cephalometric measurements and examination of mod…

The new criteria for classification of rheumatoid arthritis: what we need to know for clinical practice.

2011

The new criteria for classification of Rheumatoid Arthritis have been recently released. They incorporate the anti-Citrullinated Protein antibody testing and the other classic criteria in a score system (the diagnosis of definite rheumatoid arthritis is made by a total score ≥6). These criteria try to meet the pressing needs to gain sensitivity in early disease. Symptoms, elevated acute-phase response, serologic abnormality, joint involvement were all considered for scoring after confirming the presence of synovitis in at least 1 joint in the absence of an alternative diagnosis that better explains the synovitis. However, no sensitivity and specificity has been showed. Moreover, Area Under …

Induction of gamma-globin gene transcription by hydroxycarbamide in primary erythroid cell cultures from Lepore patients.

2008

Increased expression of fetal haemoglobin (HbF) may ameliorate the clinical course of beta-thalassemia and sickle cell disease. Some pharmacological agents, such as hydroxycarbamide (HC), can increase fetal haemoglobin synthesis during adult life. Cellular selection and/or molecular mechanisms have been proposed to account for this increase. To explore the mechanism of action of HC we focused on homozygous Hb-Lepore patients that presented with high fetal haemoglobin levels and were good responders to HC treatment "in vivo". We performed primary erythroid cultures from peripheral blood of four homozygous Lepore patients. The increase in HBG (gamma-globin) transcription levels and HbF conten…

The world of twins: an update

2010

In last years, owing to the widespread availability of assisted-reproduction technology, multiple pregnancy rates in Western countries have increased. In twin pregnancies, an increased rate of gestational complications, intrauterine growth restriction (IUGR), preterm birth and severe perinatal conditions is present. These complications are more frequent in monozygotic twins compared to dizygotic twins as well as an increased relative risk of chromosomal abnormalities and congenital malformation. Monochorionic twins are at higher risk for complications, since they share a common placenta where an imbalance in unidirectional arteriovenous anastomoses can lead to twin#x2013;twin transfusion sy…

Bladder Mucosal Graft Vaginoplasty: A Case Report

2018

Abstract Background Female vaginoplasty reconstruction, by choice, is usually performed with adjacent tissue. However in some clinical conditions such as high urogenital confluence sinus, cloacal malformation with extreme vaginal hypoplasia, local tissue may not be available. When vaginal replacement is performed in pediatric patients intestinal segments is preferred to non-operative procedures that require continuative dilations. However mucus production, malignant transformation risk and diversion colitis are important side effects. Technique We present a nouvel technique for vaginoplasty in a female child presenting with an isolated urogenital sinus malformation without virilization. The…

Dropped head as an unusual presenting sign of myasthenia gravis.

2007

Prominent or isolated weakness of cervical extensor muscles is a relatively rare clinical sign. Commonly, this is known as "dropped-head syndrome". This abnormal flexion of the head may occur in a variety of neuromuscular diseases and in a few non-neurological disorders as well. The case we describe concerns a 61-year-old woman with dropped-head syndrome as the unique complaint of myasthenia gravis.

11th European Headache Federation Congress jointly with 31st Congress of the Italian Society for the Study of Headaches : Rome, Italy. 01-03 December…

2017

. Aims of the study were explore the relationship between peripheral chromatic and central visual dysfunction evaluating also the presence of functional receptor impairment in patients with migraine, with and without aura examined interictally.

CRT-723 Is the Sporadic Thoracic Aortic Aneurysm the Result of an Inflammatory Process?

2014

Sporadic thoracic aortic aneurysm (S-TAA) is potentially devastating with severe morbidity and mortality. The histopathologic underlying abnormality of both ascending aortic aneurysm and dissection is medial degeneration, a pathological entity initially described as no inflammatory lesions of smooth

Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental

2015

Resume La microdeletion 22q11.2 est le syndrome microdeletionnel le plus frequent de la population generale. Le phenotype associe des anomalies de l’appareil pharynge embryonnaire a un phenotype neurocomportemental. La presentation clinique du syndrome est extremement variable d’un individu a l’autre, quelle que soit la taille de la deletion, et plus de 180 manifestations ont ete decrites, aucune n’etant pathognomonique. Les symptomes psychiatriques, particulierement de nature psychotique, sont frequents dans la microdeletion 22q11.2 et de nombreux psychiatres sont amenes a rencontrer ces patients. La prise en charge doit tenir compte des particularites du syndrome. L’evaluation de la neuro…