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Copyright of Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna is the property of Medical Communications Sp. z o.o. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Wprowadzenie: Wrodzona łamliwość kości (osteogenesis imperfecta – OI) jest rzadką chorobą kości. Etiologia jej obejmuje defekt genów odpowiedzialnych za produkcję kolagenu typu I lub mutacji genów białek zaangażowanych w jego potranslacyjną obróbkę. Pacjenci doświadczają nawracających złamań kości długich i kręgów oraz trudności funkcjonalnych innych narządów. Cel: Ocena postaw rodziców wobec pacjentów pediatrycznych z rozpoznaniem OI. Materiał i metody: Przebadano 102 osoby (51 rodziców pacjentów z wrodzoną łamliwością kości oraz 51 opiekunów dzieci z rozpoznaniem nieprawidłowości gospodarki wapniowo-fosforanowej). Zastosowano Skalę Postaw Rodzicielskich M. Plopy oraz autorską ankietę socjometryczną. Wyniki: Wykazano brak istotnych statystycznie różnic w ocenie nasilenia postaw rodziców wobec dzieci z OI (wrodzoną łamliwością kości) oraz z NG Ca-P (nieprawidłowościami gospodarki wapniowo-fosforanowej). Opiekunów charakteryzuje wysoki poziom akceptacji, przeciętne nasilenie wymagań, autonomii i ochrony oraz mała niekonsekwencja wobec chorych dzieci. Wnioski: Rodzice dzieci z OI mają potencjał tworzenia dobrych warunków do rozwoju swoich chorych dzieci, a pozytywne postawy są korzystnym czynnikiem sprzyjającym prawidłowej adaptacji dzieci do życia.

Copyright of Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna is the property of Medical Communications Sp. z o.o. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna is the property of Medical Communications Sp. z o.o. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Acta Universitatis Lodziensis. Folia Psychologica is the property of Wydawnictwo Uniwersytetu Lodzkiego and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Osteogenesis imperfecta is a connective tissue disease manifested by abnormalities within organs and structures rich in collagen. Typically, symptoms arise from the osteoarticular system. Excessive brittleness of the bones causes multiple fractures. Among patients with hearing loss, osteogenesis imperfecta manifests as changes to the stapes: the legs are broken and the footplate is immobilized and thickened. Changes to the malleus and incus are rarely reported. This location is associated with difficult conditions during surgery, difficult access to the ossicles. This research presents the characteristics and hearing results of patients who have undergone ossiculoplasty as a treatment of hearing loss in osteogenesis imperfecta. Two case reports present massively altered conditions within the middle ear in patients with type III osteogenesis imperfecta -- the most severe among live births, who have undergone multiple surgeries due to hearing loss, resulting in a moderate improvement in hearing. [ABSTRACT FROM AUTHOR]

Background: Osteogenesis imperfecta is a congenital disorder underlain by an inherited deficiency of a connective tissue component. Different clinical symptoms related to various collagen mutations make it possible to distinguish several types of osteogenesis imperfecta. The most common four symptoms are defects of the osteoarticular system, sclera, skin, and hearing loss. Case report: We report the case of a 60 year-old patient who was referred to the Institute of Physiology and Pathology of Hearing with bilateral progressive hearing loss, which she had first noted about 35 years ago. Based on clinical findings, the patient was diagnosed with osteogenesis imperfecta. She had a history of multiple bone fractures, short stature, and minor teeth malformations. No genetic test results were available for this patient. Based on results of an examination and the character of the hearing loss, the patient was referred for surgical treatment: explorative tympanotomy with bilateral reconstruction in stages. Both surgeries revealed fixation of the stapes and a thickened stapes footplate. Stapedotomies were performed in each ear. Follow-up after surgeries included pure tone audiometries. Results: Surgical intervention resulted in closure or reduction of the air-bone gap on both sides, demonstrating effectiveness of the treatment. Conclusions: In osteogenesis imperfecta hearing loss is a common comorbidity of anomalies in the osteoarticular system. A thickened and fixated stapes footplate can contribute to conductive component of hearing loss. Exploratory tympanotomy with stapedotomy is the method of choice in such cases. It allows the air-bone gap to be reduced and a subjective improvement of hearing, to reach, as this report demonstrates. [ABSTRACT FROM AUTHOR]

Osteogenesis imperfecta is a rare, genetically conditioned disease of connective tissue. Clinical symptoms of disease come from abnormal structure or inadequate amount of collagen in bone tissue. The most common causes of osteogenesis imperfecta are mutations in COL1A1 and COL1A2 genes, encoding collagen type I. Nevertheless, we know other mutations in genes encoding proteins, which participate in biosynthesis of collagen and this mutations condition also prevalence of symptoms of osteogenesis imperfecta. Based on clinical symptoms and changes in collagen-containing tissues, as well as on inheritance pattern, in 1979 the disease was divided into 4 major types, which was described by Sillence. Along with the progress of the knowledge on osteogenesis imperfecta and of genetic diagnostic methods, next OI types have been described in the recent years. Clinically they are included into basic forms of OI proposed by Sillence, however they are caused by mutations in other genes so called non-collagen genes. Mutations of these genes are responsible for the occurrence of about 10% of the OI cases. The remaining majority of cases are caused by mutations in collagen genes, COL1A1 and COL1A2. Currently classification of ostegenesis imperfecta comprises 15 types. [ABSTRACT FROM AUTHOR]

Recent investigations revealed that the "brittle bone" phenotype in osteogenesis imperfecta (OI) is caused not only by dominant mutations in collagen type I genes, but also by recessively inherited mutations in genes responsible for the post-translational processing of type I procollagen as well as for bone formation. The phenotype of patients with mutations in noncollagen genes overlaps with very severe type III and lethal type II OI caused by mutations in collagen genes. Mutations in genes that encode proteins involved in collagen prolyl 3-hydroxylation (P3H1/CRTAP/CyPB) eliminated Pro986 hydroxylation and caused an increase in modification of collagen helix by prolyl 4-hydroxylase and lysyl hydroxylase. However, the importance of these disturbances in the disease pathomechanism is not known. Loss of complex proteins' function as collagen chaperones may dominate the disease mechanism. The latest findings added to the spectrum of OI-causing and collagen-influencing factors other chaperones (HSP47 and FKBP65) and protein BMP-1, which emphasizes the complexity of collagen folding and secretion as well as their importance in bone formation. Furthermore, mutations in genes encoding transcription factor SP7/Osterix and pigment epithelium-derived factor (PEDF) constitute a novel mechanism for OI, which is independent of changes in biosynthesis and processing of collagen. [ABSTRACT FROM AUTHOR]