Anthropometrics of Polish children with osteogenesis imperfecta: a single-centre retrospective cohort study

Jakubowska-Pietkiewicz, Elżbieta; Maćkowska, A.; Nowicki, J.; Woźniak, E.; Jakub, Nowicki

doi:10.1186/s12887-022-03621-7

Cited by 3 publications

(3 citation statements)

References 19 publications

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“…The height z -score of the present cohort is in line with literature data, showing a very low stature in OI type III, a low stature in OI type IV, and a slightly low stature in OI type I ( 1 , 10 , 19 , 20 ), even if a study reported lower z -scores ( 10 ). Weight showed a similar trend ( 19 , 21 ), as well as BMI ( 22 ), albeit these features were less evaluated in the OI literature.…”

Section: Discussionmentioning

confidence: 92%

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

Mordenti,

Boarini,

Banchelli

et al. 2024

Front. Endocrinol.

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IntroductionThe present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to inform appropriate management in clinical practice.MethodsA total of 568 subjects (from 446 unrelated Italian families) affected by osteogenesis imperfecta who received outpatient care at Istituto Ortopedico Rizzoli from 2006 to 2021 were considered in the present study.ResultsSkeletal and extraskeletal features were analyzed showing a lower height (mean z-scores equal to -1.54 for male patients and -1.47 for female patients) compared with the general Italian population. Half of the patient population showed one or more deformities, and most of the patients had suffered a relatively low number of fractures (<10). An alteration in the sclera color was identified in 447 patients. Similarly, several extraskeletal features, like deafness, dental abnormalities, and cardiac problems, were investigated. Additionally, inheritance and genetic background were evaluated, showing that most of the patients have a positive family history and the majority of pathogenic variants detected were on collagen genes, as per literature.ConclusionThis study supports the definition of a clear picture of the heterogeneous clinical manifestations leading to variable severity in terms of skeletal and extra-skeletal traits and of the genetic background of an Italian population of osteogenesis imperfecta patients. In this perspective, this clearly highlights the crucial role of standardized and structured collection of high-quality data in disease registries particularly in rare disease scenarios, helping clinicians in disease monitoring and follow-up to improve clinical practice.

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Section: Discussionmentioning

confidence: 92%

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

Mordenti,

Boarini,

Banchelli

et al. 2024

Front. Endocrinol.

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“…Although family history strongly supports the diagnosis of OI, the types of OI may vary between siblings. Between 85 and 90% of cases are inherited in an autosomal dominant manner and are caused by COL1A1 and COL1A2 mutations, leading to quantitative or qualitative defects in type 1 collagen (28)(29)(30)(31) . The above-mentioned type of mutation was confirmed in patients who underwent genetic screening.…”

Section: Discussionmentioning

confidence: 99%

“…Impaired alveolar maturation at a later stage of the child's development may be a complication of pneumonia. Authors of many publications emphasise that spirometry to assess lung function should be recommended from an early age in patients with OI (28,30) . It is noteworthy that the majority of neonates with OI were born at term and with normal weight.…”

Section: Discussionmentioning

confidence: 99%

Assessment of the health status and pharmacological treatment of neonates with osteogenesis imperfecta – 20-year single-centre observations

Jakubowska-Pietkiewicz,

Górczewska,

Nowicki

et al. 2023

Pediatr Med Rodz

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Introduction and objective: Osteogenesis imperfecta is a heritable bone dysplasia resulting in reduced bone mineral density. Fractures of long bones, which are the dominant symptom of osteogenesis imperfecta, can be diagnosed already in foetal life. Multiple fractures are associated with severe pain, which may cause deterioration of the newborn’s general condition, respiratory and circulatory disorders, and reduced general motor activity. The aim of the study was to summarise the experience resulting from many years of care and treatment of neonates with osteogenesis imperfecta types II and III. Materials and methods: The study included 53 newborns with osteogenesis imperfecta hospitalised at the Department of Paediatrics, Newborn Pathology and Bone Metabolic Diseases in the years 2001–2021. All children underwent a babygram and an assessment of their health status, including calcium and phosphorus metabolism parameters. Results: In 67.3% of cases, the mother was informed before delivery that she would give birth to a sick child. The general condition of the newborns was moderately severe to severe in 43.4%. Physical examination revealed abnormal body proportions related to previous fractures in 98.1% of patients, including long bones of limbs. More than 10 fresh bone fractures were diagnosed in 34% of children. Conclusions: Prenatal diagnosis of osteogenesis imperfecta indicates its severe course (multiple fractures) in the neonatal period. Therefore, it requires care in a specialised centre that will provide safe, symptomatic pharmacological treatment (bisphosphonates) to reduce both pain and the risk of further bone fractures.

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Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study

De Amicis,

Bertoli,

Bruno

et al. 2024

Orphanet J Rare Dis

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Background Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, cardiovascular, and gastrointestinal complications, especially in adulthood. All aspects that could benefit from dietary intervention. The aim of this study was to evaluate the effects of a 6-months restricted Mediterranean Diet (rMD) on nutritional status in adult patients affected by OI. We carried out a 6-months longitudinal pilot study. 14 adults (median age: 35 years; 7 women; 7 OI type III) where recruited in 2019 among the members of As.It.O.I., the Italian Association of Osteogenesis Imperfecta. As.It.O.I. All the evaluations were performed at the University of Milan, Italy. The rMD provided a reduction of 30% from daily total energy expenditure. 45% of calories derived from carbohydrates, 35% from fat and 0.7–1.0 g/kg of body weight from proteins. Comparisons of continuous variables after 6 months of intervention were performed by the paired t-test. All P-values were two-tailed, and p < 0.05 was considered significant. Results Patients showed significant improvement in anthropometric measurements (BMI = 30.5 vs 28.1 kg/cm2, p < 0.001; Body Fat % = 32.9 vs 29.9, p = 0.006; Waist circumferences = 83.6 vs 79.6 cm; p < 0.001; Arm Fat Area = 29.8 vs 23.07 cm2; p < 0.011) and energy expenditure (REE/kg = 27.2 vs 29.2 kcal/kg, p < 0.001). Glucose and lipid profiles improved (Δglycemia = − 8.6 ± 7.3 mg/dL, p = 0.003; ΔTC = − 14.6 ± 20.1 mg/dL, p = 0.036; ΔLDL = − 12.0 ± 12.1 mg/dL, p = 0.009). Adherence to the MD significantly increased, moving from a moderate to a strong adherence and reporting an increased consumption of white meat, legumes, fish, nuts, fruits and vegetables. Conclusion A rMD was effective in improving nutritional status and dietary quality in adults with OI. These results underscores the need to raise awareness of nutrition as part of the multidisciplinary treatment of this disease.

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Anthropometrics of Polish children with osteogenesis imperfecta: a single-centre retrospective cohort study

Cited by 3 publications

References 19 publications

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

Assessment of the health status and pharmacological treatment of neonates with osteogenesis imperfecta – 20-year single-centre observations

Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study

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