Search results for "Rome"
showing 10 items of 12914 documents
The role of innate and lymphoid IL-22-producing cells in the immunopathology of primary Sjögren's syndrome
2014
In primary Sjögren's syndrome (pSS) a complex of interconnections between epithelial barrier, innate and adaptive immunity occurs. IL-22 is a pleiotropic cytokine that in pSS may be placed at the intersection of the adaptive and innate branches of immunity. Some evidence suggests that, in pSS, IL-22 may play a prominent pro-inflammatory role driving the early phase of tissue and systemic inflammation and participating in the self-perpetuation of disease. Despite contradictory data in literature about the role of NK cells in pSS, recent data also suggest an important contribution of this subset of cells of the innate immune system in the development and perpetuation of inflammation. Here, we…
Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.
2021
Abstract Background The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovarian cysts with autonomous Hyperestrogenic stimulation. After menarche, the majority of patients with ovarian GNAS mutation have menstrual disturbances and infertility. Objectives We wanted to focus on the fertility of MAS females and propose an appropriate management, by a detailed case report and an exhaustive review of the literature on fertility and pregnancy in MAS females. Results We present the case of a 29-year-old MAS female, who…
Arthroscopic approach for treating a pigmented villonodular sinovitis of TMJ. A case report
2017
The present report describes the case of a 29-year-old man referred to our service for TMJ pain and progressive reduction of the mouth opening. Differential diagnostics included rheumatologic diseases, monoarthritis and intraarticular lumps. In this line, a face CT scan and a MRI of TMJ were carried out in order to ensure a proper diagnosis. These tests showed a solid lesion into the joint cavity. In view of that, we decided to perform a diagnostic and therapeutic arthroscopy of TMJ. Histopathological studies confirmed the diagnosis of pigmented villonodular synovitis. The main aim of this report is to describe this rare syndrome with the goal of proposing suitable treatments. Moreover, we …
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.
1983
We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The…
Significant interaction between high-dose methotrexate and high-dose piperacillin-tazobactam causing reversible neurotoxicity and renal failure in an…
2020
Introduction Pharmacokinetic interaction of high-dose methotrexate (MTX) and other concomitantly administered renally secreted medicinal products may lead to insufficient methotrexate serum level decrease and significant MTX toxicity. Case report We report the case of an 18-year-old male patient treated with high-dose MTX for an osteosarcoma and with high-dose piperacillin-tazobactam at the same time. MTX serum levels were severely elevated 24 hours after the MTX infusion and did not decrease in accordance with the specific calcium folinate rescue protocol. The patient experienced renal failure accompanied by neurological symptoms, most consistent with MTX-related renal and CNS toxicity. Ma…
Stippled epiphyses in fetal alcohol syndrome.
1990
We report on punctate epiphyseal calcifications (stippled epiphyses) in the fetal alcohol syndrome and present the differential diagnosis of chondrodysplasia punctata. A literature survey shows that epiphyseal calcifications accompanying alcoholic embryopathy are regularly located in the lower limbs and rarely found in the upper extremities.
The "critical zones" of entrapment of the nerves of the lower limb.
1991
The author has studied, in a group of 40 dissections on cadavers of individuals of different ages, the main “critical zones” of entrapment of some terminal branches of the lumbo-sacral plexus, which include canals (fibrous, osteo-fibrous, fibro-muscular), intervals (intermuscular, fibro-muscular, musculo-ligamentous), rings (fibrous or fibro-muscular) and foramina. They provide the topographical anatomical basis for possible compressive phenomena of the nerves of the lower limb.
FGFR2mutation in 46,XY sex reversal with craniosynostosis
2015
Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…
Maxillary bone lesions in McCune-Albright syndrome:a case report
2011
Abstract Objectives In this study, we report on the clinical maxillary manifestations of a patient affected by McCune-Albright syndrome and the implications for orthodontic therapy. Materials and methods A male, 8-year-old patient was examined at the Department of Orthodontics of the University of L’Aquila for a problem of anterior open-bite. In the clinical examination, a small swelling of the left hemi-maxilla was seen in the area corresponding to the root apex of 16 and under the tooth buds of 14 and 15. In a panoramic radiograph, a radio-opaque area was detected in this zone. From the computer tomography examination, a bone lesion was identified. Results Identification of this bone lesi…
Spinal anaesthesia in a patient with post-spine surgery dural ectasia.
2013
Dural sac ectasia is a very infrequent anatomical abnormality, usually caused by connective tissue diseases, as Marfan syndrome. Very few cases have been described being a consequence of a previous spine surgical procedure. We describe the case of an elderly patient who should be operated on twice due to sub-occlusive colon disease. Surgery was performed under spinal anaesthesia. A dural sac ectasia was suspected after the first procedure and the abdominal X-ray was reviewed. The characteristics of the anatomical alteration and the course of both anaesthetic procedures were described. X-ray and CT images were provided.