scholarly journals Osteogenesis imperfecta as a cause of death

2018 ◽  
Vol 21 (1) ◽  
pp. 23-27
Author(s):  
Anastasia A. Malygina ◽  
Tatiana A. Grebennikova ◽  
Anatoly N. Tiulpakov ◽  
Zhanna E. Belaya

Osteogenesis imperfecta (OI) is a rare heterozygous connective tissue disordercaused by mutations in genes that affect collagen components (in most cases mutations in COL1A1 и COL1A2 genes). The current classification system includes 15 types of OI, one of which (type II) is characterized by 100% intrauterine or perinatal mortality. The structure of mortality in other OI types is poorly understood because of the heterogeneity of clinical symptoms and the severity of connective tissue damage. W present a clinical case of type III osteogenesis imperfecta, complicated by generalized osteoporosis with multiple fractures of vertebrae and tubular bones and progressive kyphoscoliosis. Late-initiated treatment led to progression of the disease and led to cardiopulmonary insufficiency and death of the patient. Our clinical case highlights the importance of timely diagnosis, treatment and regular observation in patients with OI.

2020 ◽  
Vol 38 (3) ◽  
pp. 399-405
Author(s):  
Craig R. Soderquist ◽  
Susan Hsiao ◽  
Mahesh M. Mansukhani ◽  
Bachir Alobeid ◽  
Peter H. Green ◽  
...  

2020 ◽  
Vol 42 (2) ◽  
Author(s):  
Nguyen Manh Hung ◽  
Nguyen Van Ha ◽  
Ha Duy Ngo

In this paper, we updated the list of monogenean species from marine fishes of Vietnam. Taxonomic position of monogenean species were arranged according to the current classification system. A total of 220 monogenean species from 152 marine fish species were listed. Distribution, hosts and references of each species were given. In addition, amendations of taxonomic status of taxa were also updated.  


Kinesiology ◽  
2017 ◽  
Vol 49 (1) ◽  
pp. 117-126 ◽  
Author(s):  
Bartosz Molik ◽  
James J. Laskin

The purpose of this exploratory study was to evaluate opinions of elite athletes, coaches and classifiers regarding the International Wheelchair Basketball Federation’s (IWBF) functional classification system. We were also interested in the athletes’ perspective regarding potential changes to the classification system. In addition, we compared the generalized opinions reported by the athletes to those of coaches and classification officers. This survey was administered during the Wheelchair Basketball Gold Cup (Amsterdam, 2006). Seventy-nine athletes, 50 men and 29 women, as well as 12 coaches and 14 classifiers completed the survey. The first part of the survey addressed demographic characteristics of the participants. The second part focused on their opinions regarding the current classification system. Based on the survey responses, athletes reported that the IWBF classification system is generally satisfactory. However, athletes as well as coaches and classification officers did report some specific concerns about this classification system. These concerns included changes in an athlete classification, athlete cheating and communication between classifiers and athletes. Athletes, coaches and classifiers, as the wheelchair basketball’s primary constituent groups, have a vested interest in the evolution of the game and should be included in the evaluation and modifications to the functional classification system. This study has demonstrated that a classification specific survey could provide useful information and insight into the perspectives of these constituent groups.


Vascular ◽  
2021 ◽  
pp. 170853812110076
Author(s):  
Arjun Jayaraj ◽  
Peter Gloviczki ◽  
Audra A Duncan ◽  
Manju Kalra ◽  
Gustavo S Oderich ◽  
...  

Objectives To assess the ability of the current classification system for popliteal entrapment syndrome to accurately capture all patients, and if not, to design an all-inclusive new classification. Methods Retrospective review of all interventions performed for popliteal entrapment syndrome between 1994 and 2013 at our institution was performed. Preoperative imaging and intraoperative findings were used to establish the compressive morphology of popliteal entrapment syndrome. Patients were categorized, when possible, into six types of the current classification system (Rich classification, modified by Levien) and into seven types of a new classification. Results Sixty-seven limbs of 49 patients were operated on for unilateral (31) or bilateral (18) popliteal entrapment syndrome. The current classification system captured the anatomy of only 43 (64%) of 67 limbs with popliteal entrapment syndrome. Compressive morphologies without a defined class included aberrant insertion of the lateral head of gastrocnemius muscle, muscle slip originating from the lateral head of gastrocnemius or hamstrings, hypertrophied hamstring muscle, abnormal fibrous bands, perivascular connective tissue, and prominent lateral femoral condyle. The new classification captured 100% of the limbs with popliteal entrapment syndrome. Conclusions Current classification of popliteal entrapment syndrome is inadequate as more than one-third of the cases reviewed fell outside of the standard classification system. Consideration of a more inclusive new anatomic classification system is warranted.


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