Search results for "Musculoskeletal"
showing 10 items of 1714 documents
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants
2020
Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven patients from three families presenting heterozygous missense variants in PTPN11 probably responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these seven cases overlap with the SHORT syndrome. The latter is the c…
Serum levels of RANKL and OPG, and the RANKL/OPG ratio in bisphosphonate-related osteonecrosis of the jaw: Are they useful biomarkers for the advance…
2017
We determined whether serum levels of Receptor Activator for Nuclear Factor κ B Ligand (RANKL), Osteoprotegerin (OPG), and the RANKL/OPG ratio could be useful biomarkers for the severity of oral lesions in bisphosphonate-related osteonecrosis of the jaw (BRONJ). A case-control study in which Group 1 consisted of 41 patients with BRONJ due to bisphosphonates, and Group 2 consisted of 44 healthy control cases. The plasma levels of RANKL and OPG were analyzed by an ELISA assay. The OPG/RANKL ratio was also calculated. We determined if the mean serum values differed among the different stages of BRONJ. Serum levels of RANKL were lower in Group 1 than in Group 2 (p =0.01), and serum levels of OP…
Postoperative Patient Education in Physiotherapy after Hip Arthroplasty : Patients' Perspective
2016
The objective of the present study was to explore postoperative patient education in physiotherapy from total hip arthroplasty (THA) patients' perspectives, which has been a little-studied area of research. The usefulness of rehabilitation protocols after THA has been debated over the years, and there are no clear guidelines for physiotherapy after THA METHODS: The data for the present qualitative study were collected from nine patients with THA by using individual interviews at the hospital after surgery. The interviews were audio-recorded and analysed by using a phenomenographic method RESULTS: Four different categories of postoperative patient education in physiotherapy after hip arthrop…
Assessment of construct validity of the Finnish versions of the Disabilities of Arm, Shoulder and Hand Instrument and the Michigan Hand Outcomes Ques…
2020
Abstract Study Design Cross-sectional study. Introduction There is a lack of information on the measurement properties of patient-reported upper extremity instruments and their association to health-related quality of life (HRQoL). Purpose of the Study This study aimed to examine and compare the measurement properties and construct validity of the Disabilities of Arm, Shoulder, and Hand (DASH) Instrument and the Michigan Hand Questionnaire (MHQ) using a heterogeneous sample of patients with hand and wrist problems. Methods Two hundred fifty consecutive patients visiting a general orthopedic outpatient clinic due to various hand/wrist problems were invited to participate in the study. A tota…
A case of naturally evolving gout in an elderly man
2012
Gout is a common disorder in adults that can lead to severe organ decline, disability and impaired quality of life due to the formation of periarticular tophi. We report a case of massive tophaceous gout in a 78-year-old man with a 16-year-long history of untreated disease. The patient gradually became disabled, his renal function deteriorated, and he finally died of sepsis. Our case demonstrates that chronic gout not only affects the joints, but is also associated with organ function decline and can, even nowadays, lead to death. © 2011 Elsevier Ireland Ltd.
Incidence and costs of hip fractures compared to acute myocardial infarction in the Italian population: a 4-year survey
2007
Introduction Few data are available about the incidence and costs of hip fractures in Italy. We aimed to determine the impact of hip fractures vs. acute myocardial infarction (AMI). Methods We studied the national hospitalization database to calculate their incidence and costs in adults aged ≥45 between 1999 and 2002. Results In 2002, there were 86,719 hip fractures with a 10.0% increase over 4 years. We observed a predominance of women (77.1%) and a strong age effect: 92.7% of patients were ≥65 years old and 80% of fractures occurred in women aged ≥75, showing a clear relationship with the incidence of osteoporosis. Hospitalizations due to AMI after 45 years of age in 1999 were only 9% hig…
Bone mineral density in relation to anthropometric properties, physical activity and smoking in 75-year-old men and women
1993
Bone mineral content (BMC, gem−2) and density (BMD, gem−3) were studied in 75-year-old men and women in relation to anthropometric and certain life-style factors. This study covered all the men and women born in 1914 who were residents in the city of Jyvaskyla in 1989 (N=388). A hundred and three men and 188 women participated in bone measurements performed at the calcaneus using a 125I-photon absorption method. BMC was on average 36% and BMD 17% higher in the men than in the women. BMC and BMD associated with body mass in both sexes, and with body fat and use of estrogen in the women. There was a negative correlation between the BMD values and the number of cigarettes smoked over the entir…
Tocilizumab as first treatment option in optic neuropathy secondary to Graves' orbitopathy.
2018
Dysthyroid optic neuropathy (DON) is one of the complications that can affect Graves' orbitopathy (GO) patients. Its prevalence is estimated at less than 5%. It is usually treated with intravenous steroids, radiotherapy or orbital decompression. Tocilizumab has been proposed as a treatment option in cases of GO refractory to steroid treatment, with good clinical results. Our aim is to report the case of a patient with optic neuropathy secondary to GO treated with tocilizumab as primary treatment option.
Echinostoma caproni: Differential tegumental responses to growth in compatible and less compatible hosts
2010
Abstract The topography of the tegument of Echinostoma caproni adults collected from high (mice) and low (rats) compatible hosts was compared by SEM. In the oral (OS) and the ventral sucker (VS) areas, a worm age–host species interaction was found with regard to the density of spines. There was a decrease in the density of spines in the adults collected from mice, whereas an increase occurred in the OS area in worms from rats over time. The tegumentary spines in adults from mice became larger and blunter. Some spines from the VS area in adults from mice at 4 wpi were multipointed. The spines of adults from rats were sharper, not covered by the tegument and no multipointed spines were observ…
Assessment of Lower Limb Load Distribution in Patients Treated with the Ilizarov Method for Tibial Nonunion
2021
BACKGROUND Successful treatment of tibial nonunion should lead to a complete bone union, lack of pain, and pathological mobility of the lower extremity, as well as to the achievement of satisfactory joint mobility and muscle strength, which in turn improves its biomechanics. The objective of this study was to assess the load placed on the lower limbs in patients subjected to treatment with the Ilizarov method due to aseptic tibial nonunion. MATERIAL AND METHODS This research involved 24 participants (average age, 55 years). All were diagnosed with aseptic tibia nonunion and treated with the Ilizarov external fixator between 2000 and 2017. The control group was matched to the treated group i…