Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

2012 ◽  
Vol 33 (10) ◽  
pp. 1444-1449 ◽  
Author(s):  
Maria Trinidad Puig-Hervás ◽  
Samia Temtamy ◽  
Mona Aglan ◽  
Maria Valencia ◽  
Víctor Martínez-Glez ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Connective Tissue Disorders ◽  
Phenotypic Spectrum ◽  
Bruck Syndrome

scholarly journals Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

2018 ◽  
Vol 37 (3) ◽  
pp. 276-279
Author(s):  
Suraj Dhaubhadel ◽  
Bimala Baniya ◽  
Hema Joshi ◽  
Ram Hari Chapagain ◽  
Krishna Prasad Paudel
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Femur Fracture ◽  
Bone Fragility ◽  
Rare Disorder ◽  
Arthrogryposis Multiplex Congenita ◽  
Joint Contractures ◽  
New Born ◽  
Bruck Syndrome

Bruck syndrome is a very rare autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. It is considered as a combination of arthrogryposis multiplex congenita and osteogenesis imperfecta, while some consider it as the autosomal recessive variant of osteogenesis imperfecta. According to the genotype, it has been classified into types 1 and 2. To our knowledge, only about 28 patients of this syndrome have been reported so far worldwide with none been reported from Nepal. Here, we present a patient with generalized osteopenia, bilateral femur fracture and congenital joint contractures of distal extremities.

Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

2013 ◽  
Vol 56 (12) ◽  
pp. 669-673 ◽  
Author(s):  
Miriam S. Reuter ◽  
Georg C. Schwabe ◽  
Christian Ehlers ◽  
Christoph Marschall ◽  
André Reis ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Connective Tissue Disorders

Treatment of an asymptomatic penetrating aortic ulcer in a young patient

VASA ◽  
2010 ◽  
Vol 39 (2) ◽  
pp. 175-179
Author(s):  
Hakimi ◽  
Geisbüsch ◽  
Gross ◽  
Hyhlik-Dürr ◽  
Hausser ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Connective Tissue ◽  
Aortic Arch ◽  
Open Surgery ◽  
Open Repair ◽  
Thoracic Endovascular Aortic Repair ◽  
Concomitant Disease ◽  
Connective Tissue Disorders ◽  
Penetrating Aortic Ulcer ◽  
Pathological Analysis

We want to report and discuss the indication for open surgery for an asymptomatic penetrating aortic ulcer (PAU) in the era of thoracic endovascular aortic repair (TEVAR). A 31-year-old female presented with the diagnosis of an aneurysm in the distal aortic arch. With respect to the patient’s young age, the controversial status of connective tissue disorders and in the absence of concomitant disease, open repair was indicated. There was no proof of a mycotic plaque or connective tissue disease in the microbiological-, pathological analysis and at electron-microscopy. The patient was discharged on the thirteenth postoperative day. In spite of good preliminary results of TEVAR in PAU, in selective cases there is still an indication for open surgery.

Evaluation of Antinuclear Antibody in Connective Tissue Disorders

2012 ◽  
Vol 3 (6) ◽  
pp. 19-21
Author(s):  
Dr.Ashish Patela ◽  
◽  
Dr.Dipika Sathvara ◽  
Dr.Himanshu Patel ◽  
Dr.C.Chakrabarti Dr.C.Chakrabarti
Keyword(s):  
Connective Tissue ◽  
Antinuclear Antibody ◽  
Connective Tissue Disorders

Work-related Musculoskeletal Disorders in Emergency Medical Personnel

2020 ◽  
pp. 42-45
Author(s):  
L.M. Karamova ◽  
V.O. Krasovskiy ◽  
D.M. Vagapova ◽  
N.V. Vlasova ◽  
A.S. Khafizova ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Musculoskeletal Disorders ◽  
Disease Incidence ◽  
Medical Personnel ◽  
Incidence Rates ◽  
Connective Tissue Disorders ◽  
Ambulance Personnel ◽  
Occupational Risk Factors ◽  
Emergency Medical ◽  
Emergency Medical Personnel

Relevance. The importance of studying and analyzing contribution of occupational risk factors in musculoskeletal disorders among emergency medical personnel is related to high disease incidence rates and work specifics. The objective of our research envisaged formalization of information obtained for the analysis and assessment of occupational risks of developing musculoskeletal and connective tissue disorders in ambulance personnel. Results. According to professional medical examination results, musculoskeletal and connective tissue disorders ranked second among all diagnosed diseases. The relative risk of developing those disorders was 70% indicating the link between them and transport vibration (category 1) affecting the backbone during long trips in ambulance cars.

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