Low bone mass in a 17-year-old girl in the course of yolk sac tumor treatment – case report

The aim of the paper was to present symptoms and results of biochemical and densitometric examination in a 17-year-old girl. The girl had yolk sac tumor at the age of 12, in course of which she developed secondary osteoporosis

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined. Mutations were found in exons 2, 22, 50 and in introns 13 and 51 of the COL1A1 gene. In COL1A2, one mutation was identified in exon 22. Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation. Also, a single base substitution in I13 (c.904-9 G>T) was associated with the OI type I. The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. Also, a missense mutation in COL1A2 changing Gly→Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. It affected secretion of the heterotrimeric form of procollagen type I. However, no intracellular accumulation of procollagen chains could be detected. Mutation in COL1A2 affected its incorporation into procollagen type I. The results obtained shall help in genetic counseling of OI patients and provide a rational support for making informed, life important decisions by them and their families

Effect of Bisphosphonates on Function and Mobility Among Children with Osteogenesis Imperfecta: A Systematic Review

Osteogenesis imperfecta (OI) is a rare genetic connective tissue disorder that results in bone fragility and deformity. Management is multi‐disciplinary. Although pharmacologic intervention with bisphosphonates (BP) is a standard of care for individuals with severe OI, no consensus or reviews were found that focus on the effects of bisphosphonates on function and mobility. PubMed, CINAHL, Cochrane Library, Web of Science, and PEDro databases were searched for eligible articles for this review. Methodological quality was assessed using the Cochrane Collaboration\u27s tool for risk of bias. Twenty‐six studies (801 children) were reviewed and five showed a low risk of bias. Included studies showed significant variability among clinical protocols for administering BP. Randomized controlled trials did not demonstrate a significant improvement in function and mobility with oral BP administration, while non‐randomized open‐label uncontrolled studies demonstrated that oral and intravenous BP administration objectively improved function and mobility. The most common outcome measure used by the studies included in this review was the Bleck score. Effect sizes (d = 0.28 ‐ 4.5) varied among studies. This systematic review also summarized the apparent confounding variables affecting results of previous studies and provided suggestions to improve the quality of future studies

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%–90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in “lethal regions”. Our results contribute to a better understanding of the clinical and genetic aspects of OI

Systematic review to identify and appraise outcome measures used to evaluate childhood obesity treatment interventions: evidence of purpose, application, validity, reliability and sensitivity

Background: Lack of uniformity in outcome measures used in evaluations of childhood obesity treatment interventions can impede the ability to assess effectiveness and limits comparisons across trials. Objective: To identify and appraise outcome measures to produce a framework of recommended measures for use in evaluations of childhood obesity treatment interventions. Data sources: Eleven electronic databases were searched between August and December 2011, including MEDLINE; MEDLINE In-Process and Other Non-Indexed Citations; EMBASE; PsycINFO; Health Management Information Consortium (HMIC); Allied and Complementary Medicine Database (AMED); Global Health, Maternity and Infant Care (all Ovid); Cumulative Index to Nursing and Allied Health Literature (CINAHL) (EBSCOhost); Science Citation Index (SCI) [Web of Science (WoS)]; and The Cochrane Library (Wiley) - from the date of inception, with no language restrictions. This was supported by review of relevant grey literature and trial databases. Review methods: Two searches were conducted to identify (1) outcome measures and corresponding citations used in published childhood obesity treatment evaluations and (2) manuscripts describing the development and/or evaluation of the outcome measures used in the childhood intervention obesity evaluations. Search 1 search strategy (review of trials) was modelled on elements of a review by Luttikhuis et al. (Oude Luttikhuis H, Baur L, Jansen H, Shrewsbury VA, O'Malley C, Stolk RP, et al. Interventions for treating obesity in children. Cochrane Database Syst Rev 2009;1:CD001872). Search 2 strategy (methodology papers) was built on Terwee et al.'s search filter (Terwee CB, Jansma EP, Riphagen II, de Vet HCW. Development of a methodological PubMed search filter for finding studies on measurement properties of measurement instruments. Qual Life Res 2009;18:1115-23). Eligible papers were appraised for quality initially by the internal project team. This was followed by an external appraisal by expert collaborators in order to agree which outcome measures should be recommended for the Childhood obesity Outcomes Review (CoOR) outcome measures framework. Results: Three hundred and seventy-nine manuscripts describing 180 outcome measures met eligibility criteria. Appraisal of these resulted in the recommendation of 36 measures for the CoOR outcome measures framework. Recommended primary outcome measures were body mass index (BMI) and dual-energy X-ray absorptiometry (DXA). Experts did not advocate any self-reported measures where objective measurement was possible (e.g. physical activity). Physiological outcomes hold potential to be primary outcomes, as they are indicators of cardiovascular health, but without evidence of what constitutes a minimally importance difference they have remained as secondary outcomes (although the corresponding lack of evidence for BMI and DXA is acknowledged). No preference-based quality-of-life measures were identified that would enable economic evaluation via calculation of quality-adjusted life-years. Few measures reported evaluating responsiveness. Limitations Proposed recommended measures are fit for use as outcome measures within studies that evaluate childhood obesity treatment evaluations specifically. These may or may not be suitable for other study designs, and some excluded measures may be more suitable in other study designs. Conclusions: The CoOR outcome measures framework provides clear guidance of recommended primary and secondary outcome measures. This will enhance comparability between treatment evaluations and ensure that appropriate measures are being used. Where possible, future work should focus on modification and evaluation of existing measures rather than development of tools de nova. In addition, it is recommended that a similar outcome measures framework is produced to support evaluation of adult obesity programmes. Funding: The National Institute for Health Research Health Technology Assessment programme

Sociodemographic factors affecting the disease acceptance in the group of women with postmenopausal osteoporosis

ObjectivesAssessment of the disease acceptance level in women with osteoporosis depending on selected sociodemographic factors.Material and MethodsThe study included a group of 198 women, aged M±SD 72.3±8.59 years, diagnosed with postmenopausal osteoporosis and treated in 2 Osteoporosis Treatment Centres in Łódź. A questionnaire survey and Acceptance of Illness Scale (AIS) were applied in the study. Based on the questionnaire, the authors collected sociodemographic data (including age, marital status, place of residence, financial status) which the authors subsequently analyzed using a statistical program.ResultsThe respondents living in the countryside, with primary education and a very difficult financial situation manifested a low disease acceptance level. The authors have shown that postmenopausal osteoporosis acceptance level significantly depends on the age (p = 0.0024), place of residence (p = 0.0044), education (p < 0.001) and affluence (p = 0.0049), however, it is not related to duration of the disease.ConclusionsPostmenopausal osteoporosis acceptance level depended on age, place of residence, education and affluence level, however, it was not related to the disease duration. Psychological aspects, including assessment according to the disease acceptance scale, constitute a factor influencing mental health, therefore they should be included in evaluation of therapy effectiveness in patients chronically treated for osteoporosis

Is acceptance of disease and life satisfaction of women with postmenopausal osteoporosis dependent on BMI?

Cel pracyOcena poziomu akceptacji choroby i satysfakcji z życia kobiet z osteoporozą pomenopauzalną w zależności od wskaźnika masy ciała.MetodaBadaniem objęto grupę 198 kobiet, w wieku 72,31±8,59 lat z rozpoznaną osteoporozą pomenopauzalną w dwóch Poradniach Leczenia Osteoporozy na terenie miasta Łodzi. W pracy wykorzystano kwestionariusz Skali Akceptacji Choroby (AIS), Skali Satysfakcji z Życia (SWLS), skalę oceny bólu (VAS) oraz ankietę własnego autorstwa.WynikiŚrednia w skali AIS wyniosła 25,95±10,2 punktów, co świadczy o średnim poziomie akceptacji oraz adaptacji do choroby badanej grupy. Poziom satysfakcji z życia oceniany w SWLS wyniósł średnio 19,37±7,31 punktów i wskazuje na przeciętne zadowolenie z życia. W grupie badanej najniższą akceptację choroby (24,38±11,3 pkt.) miały osoby z niedowagą. Natomiast najniższą satysfakcję z życia (17,75±7,50 pkt.) wykazały kobiety z otyłością. Badane prezentowały łagodny poziom bólu oceniony w skali VAS (4,87±2,39 pkt.). Ankietowane z prawidłową masą ciała najlepiej oceniały swój stan psychiczny pod względem akceptacji choroby oraz satysfakcji z życia.WnioskiPoziom akceptacji choroby oraz stopień zadowolenia z życia kobiet z osteoporozą pomenopauzalną nie różni się istotnie statystycznie w zależności od wskaźnika masy ciała. Wykazano, że im większa akceptacja choroby, tym większa satysfakcja z życia osób chorych na osteoporozę. Aspekty psychologiczne (kwestionariusz AIS, SWLS) powinny być elementem oceny efektywności terapii u osób przewlekle leczonych z powodu osteoporozy pomenopauzalnej.</jats:sec