Effect of the Sharrard procedure on hip instability in children with Down syndrome: a retrospective study.

Purpose: The aim of this study was to retrospectively analyze the effect of the Sharrard procedure on hip instability in children with Down syndrome (DS), as measured by the migration index.

Methods: In total, 17 children (21 hips) were included from six hospitals in the Netherlands between 2003 and 2019. The primary outcome, hip instability, was assessed with the Reimers' migration index on preoperative and postoperative plain anteroposterior pelvic radiographs.

Satisfaction and pain levels after proximal femoral valgus osteotomy according to Schanz in patients with cerebral palsy and hip dislocation.

Outcome after Schanz osteotomy in the treatment of chronic hip dislocation in children with cerebral palsy was evaluated. Medical charts and questionnaires were used to assess pain, functional outcome and satisfaction. A total of 24 children, with a mean age of 13.

PLS3 mutations in X-linked osteoporosis with fractures.

Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties of PLS3 were supported by in vivo analyses in zebrafish. Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found.

Bone mineral density in developing children with osteogenesis imperfecta: a longitudinal study with 9 years of follow-up.

Background And Purpose: Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue caused by a defect in collagen type I synthesis. For bone, this includes fragility, low bone mass, and progressive skeletal deformities, which can result in various degrees of short stature. The purpose of this study was to investigate development of bone mineral density in children with OI.

Spinal cord transection before scoliosis correction in myelomeningocele may improve bladder function.

Aims: In patients with myelomeningocele (MMC) and coexistent scoliosis, a spinal cord transection (SC-transection) is sometimes performed before scoliosis correction to prevent traction on the myelum after stretching the spinal column. Performing a SC-transection may have positive effects on bladder function, especially in case of refractory detrusor-sphincter dyssynergia. This study investigates the effects of SC-transection on lower and upper urinary tract outcomes.

Results of Pavlik harness treatment in children with dislocated hips between the age of six and twenty-four months.

Background: We retrospectively studied the outcome of Pavlik harness treatment in late-diagnosed hip dislocation in infants between 6 and 24 months of age (Graf type 3 and 4 or dislocated hips on radiographs) treated in our hospital between 1984 and 2004. The Pavlik harness was progressively applied to improve both flexion and abduction of the dislocated hip. In case of persistent adduction contracture, an abduction splint was added temporarily to improve the abduction.

Transinguinal sonographic determination of the position of the femoral head after reposition and follow-up in a spica cast.

Background: Transinguinal sonography can be used to demonstrate the position of the femoral head after reduction of a dislocated hip.

Objective: To determine whether transinguinal sonography can replace radiography and CT in the follow-up after reduction of a hip dislocation?

Materials And Methods: Thirty-three children with 39 dislocated hips were followed up with sonography after reduction and immobilization in a spica cast. In cases of an abnormal position a CT scan was advised.

Prevalence of vertebral pars defects (spondylolysis) in a population with osteogenesis imperfecta.

Study Design: We performed a retrospective study of spinal roentgenograms of a large cohort of patients suffering from osteogenesis imperfecta.

Objective: To determine the prevalence of vertebral pars defects (spondylolysis) in patients with osteogenesis imperfecta.

Summary Of Background Data: Patients suffering from osteogenesis imperfecta are known to be prone to pathologic fractures.

Physical training in children with osteogenesis imperfecta.

Objective: To study the effects of a physical training program on exercise capacity, muscle force, and subjective fatigue levels in patients with mild to moderate forms of osteogenesis imperfecta (OI).

Study Design: Thirty-four children with OI type I or IV were randomly assigned to either a 12-week graded exercise program or care as usual for 3 months. Exercise capacity and muscle force were studied; subjective fatigue, perceived competence, and health-related quality of life were secondary outcomes.

Quality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): a 2-year randomized placebo-controlled trial.

Unlabelled: In this double-blind randomised placebo-controlled trial it was investigated during a two-year follow-up whether oral bisphosphonates (Olpadronate 10 mg/m2/day) influence quality of life in children with osteogenesis imperfecta (OI). Thirty-four children with OI (classified according to Sillence criteria), aged 3 to 18 years of age, with a restricted level of ambulation were included. Randomisation was performed using a list of computer generated random numbers to allocate patients to receive Olpadronate or placebo.

Spinal decompensation in neuromuscular disease.

Study Design: In this retrospective radiography study, we analyzed curve shape and direction in scoliosis secondary to neuromuscular disease.

Objective: To determine if in different types of neuromuscular scoliosis a predominant curve pattern can be found and if similarities with idiopathic scoliosis exist.

Summary Of Background Data: To the authors' knowledge, systematic analysis of curve patterns in patients with neuromuscular scoliosis has not been performed in a group of this size and composition.

Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I.

Objective: To evaluate cardiopulmonary function, muscle strength, and cardiopulmonary fitness (VO 2 peak) in patients with osteogenesis imperfecta (OI).

Study Design: In 17 patients with OI type I (mean age 13.3 +/- 3.

Osteogenesis imperfecta in childhood: impairment and disability. A prospective study with 4-year follow-up.

Objectives: To study (1). changes in anthropometrics, joint range of motion (ROM), muscle strength, functional ability, caregiver assistance, and level of ambulation in children with osteogenesis imperfecta (OI) and (2). the prediction of clinical characteristics at the level of ambulation at follow-up and the prediction of clinical characteristics on progression or regression at the level of ambulation over time.

Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study.

Background: Non-randomised studies have suggested beneficial effects of bisphosphonates in osteogenesis imperfecta. We assessed the effects of oral olpadronate in children with this disorder in a randomised double-blind placebo-controlled trial.

Methods: 34 children recruited from the Dutch national centre for osteogenesis imperfecta were randomly assigned olpadronate (10 mg/m2 daily; n=16) or placebo (n=18) for 2 years.

The interaction between Sillence type and BMD in osteogenesis imperfecta.

Clinical studies with bisphosphonates in children with osteogenesis imperfecta (OI) show an increase in BMD and a decrease in fracture rate. Bone strength in children with OI is not only influenced by changes in BMD but also by changes in collagen I structure of the organic bone matrix. Therefore, we studied the interaction between these two factors in a cross-sectional, single center study including 54 children.

Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.

The hallmark of fibrotic processes is an excessive accumulation of collagen. The deposited collagen shows an increase in pyridinoline cross-links, which are derived from hydroxylated lysine residues within the telopeptides. This change in cross-linking is related to irreversible accumulation of collagen in fibrotic tissues.

Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones.

We studied the relationship between the age of reaching motor milestones, especially anti-gravity activities, and the age of development of pathological spinal curvatures in children with osteogenesis imperfecta (OI). We hypothesized that earlier achievement of anti-gravity motor milestones predicts a later development of pathological spinal curvatures. Ninety-six children participated in this retrospective study.

Ultrasound in the management of the position of the femoral head during treatment in a spica cast after reduction of hip dislocation in developmental dysplasia of the hip.

In this prospective study of 18 hips we compared the efficacy of ultrasound with CT in determining the position of the femoral head in a spica cast after closed or open reduction in children with developmental dysplasia of the hip. Ultrasound was performed through the perineal opening of the cast. With a transinguinal approach, the superior ramus of the pubis, the acetabulum, the femoral head and the femoral neck can be depicted in one plane.

Osteogenesis imperfecta in childhood: prognosis for walking.

Objectives: We studied the predicted value of disease-related characteristics for the ability of children with osteogenesis imperfecta (OI) to walk.

Study Design: The severity of OI was classified according to Sillence. The parents were asked to report the age at which the child achieved motor milestones, the fracture incidence, and the age and localization of the first surgical intervention.

Osteogenesis imperfecta: profiles of motor development as assessed by a postal questionnaire.

Unlabelled: This study was performed to achieve more detailed information regarding the age and sequence in the development of motor milestones in the different types of osteogenesis imperfecta (OI). The parents of 98 patients with a diagnosis of OI were sent a questionnaire regarding the age at which patients achieved motor milestones. All patients were attending the outpatient clinic for children with OI at the Wilhelmina Children's Hospital.

Pyridinium cross-links in bone of patients with osteogenesis imperfecta: evidence of a normal intrafibrillar collagen packing.

The brittleness of bone in patients with osteogenesis imperfecta (OI) has been attributed to an aberrant collagen network. However, the role of collagen in the loss of tissue integrity has not been well established. To gain an insight into the biochemistry and structure of the collagen network, the cross-links hydroxylysylpyridinoline (HP) and lysylpyridinoline (LP) and the level of triple helical hydroxylysine (Hyl) were determined in bone of OI patients (types I, III, and IV) as well as controls.

Long-term follow-up of conservatively treated popliteal cysts in children.

This study was undertaken to determine the long-term outcome of conservatively treated popliteal cysts in children. It was based on a review of 20 cysts, none of which were initially treated surgically. The records of children with popliteal cysts between 1986 and 1992 were studied, and a group of patients without other diseases or other physical abnormality in the knee region was selected.

Complications of the Bailey-Dubow elongating nail in osteogenesis imperfecta: 34 children with 110 nails.

The Bailey-Dubow nail, inserted in the femur or tibia of 34 children with osteogenesis imperfecta (OI), was studied retrospectively. Comparing the various groups of OI, no significant difference was found. Location of the nail (tibia or femur) did not influence the complication rate significantly.

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

Bruck syndrome is characterized by the presence of osteoporosis, joint contractures, fragile bones, and short stature. We report that lysine residues within the telopeptides of collagen type I in bone are underhydroxylated, leading to aberrant crosslinking, but that the lysine residues in the triple helix are normally modified. In contrast to bone, cartilage and ligament show unaltered telopeptide hydroxylation as evidenced by normal patterns of crosslinking.

Osteogenesis imperfecta in childhood: treatment strategies.

Osteogenesis imperfecta (OI) is a skeletal disorder of remarkable clinical variability characterized by bone fragility, osteopenia, variable degrees of short stature, and progressive skeletal deformities. Additional clinical manifestations such as blue sclerae, dentinogenesis imperfecta, joint laxity, and maturity onset deafness are described in the literature. OI occurs in about 1 in 20,000 births and is caused by quantitative and qualitative defects in the synthesis of collagen I.