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OBJECTIVE: We aim to detect serum DKK1 level of pediatric patients with OI and to analyze its relationship with the genotype and phenotype of OI patients.
METHODS: A cohort of pediatric OI patients and age-matched healthy children were enrolled. Serum levels of DKK1 and bone turnover biomarkers were measured by enzyme-linked immunosorbent assay. Bone mineral density (BMD) was measured by Dual-energy X-ray absorptiometry. Pathogenic mutations of OI were detected by next-generation sequencing and confirmed by Sanger sequencing.
RESULTS: A total of 62 OI children with mean age of 9.50 (4.86, 12.00) years and 29 healthy children were included in this study. The serum DKK1 concentration in OI children was significantly higher than that in healthy children [5.20 (4.54, 6.32) and 4.08 (3.59, 4.92) ng/mL, P < 0.001]. The serum DKK1 concentration in OI children was negatively correlated with height (r = - 0.282), height Z score (r = - 0.292), ALP concentration (r = - 0.304), lumbar BMD (r = - 0.276), BMD Z score of the lumbar spine and femoral neck (r = - 0.32; r = - 0.27) (all P < 0.05). No significant difference in serum DKK1 concentration was found between OI patients with and without vertebral compression fractures. In patients with spinal deformity (22/62), serum DKK1 concentration was positively correlated with SDI (r = 0.480, P < 0.05). No significant correlation was observed between serum DKK1 concentration and the annual incidence of peripheral fractures, genotype and types of collagen changes in OI children.
CONCLUSIONS: The serum DKK1 level was not only significantly elevated in OI children, but also closely correlated to their skeletal phenotype, suggesting that DKK1 may become a new biomarker and a potential therapeutic target of OI.

BACKGROUND: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by reduced bone density and increased proneness to fractures. It manifests across a varied clinical spectrum of expressions in children and young adults. It is crucial for children with OI to have a multidisciplinary follow-up, including orthopedics, pediatrics, and physical medicine and rehabilitation. Although exercise may have no effect on the disease itself, it might improve the autonomy, self-esteem, and fitness of these children.  Methods: Retrospective cohort analysis of children and young adults aged three or more years old followed-up in a Level III Pediatric Hospital between 1995 and 2020. Demographic and clinical data were obtained from the hospital records and from the caregivers via phone calls. To our knowledge, this is the first national case series published assessing exercise habits in children with this condition.
RESULTS: Among the 21 patients studied, the median age was 14 years, with no gender predominance. Eighteen (86%) practiced regular physical activity, while the remaining three (14%), all of whom were type III OI, were totally dependent. Of the aforementioned 18 children, 12 (67%) considered practicing the same level of physical activity compared to their healthy peers, although most of them needed adaptations. The most reported extracurricular activity was swimming, in 50% of the cases. About 39% engaged in physical activity two times or less per week, and 89% practiced for one hour or less per session.
CONCLUSIONS: Over the years, it has become clear that physical activity is an important part of OI management. While awareness of the importance of exercise already exists, proper planning, follow-up, and monitoring are essential.

Osteogenesis imperfecta is a rare genetic disorder of type 1 collagen which primarily affects children and leads to recurrent bone fractures. In addition, spinal abnormalities can also occur. We report a case of a 13-year-old male with osteogenesis imperfecta type III, associated with severe femur deformity and thoracic kyphoscoliosis, who developed neurological injury after lower extremity surgery. The patient was in a supine position when general anesthesia was administered. The operation lasted for approximately 250 minutes, and anesthesia for 310 minutes, with an estimated blood loss of 600 cc. Apart from a low mean arterial pressure value (45 mm Hg) intraoperatively, the procedure was uneventful. Early postoperatively, he developed spinal paralysis at the level of T4-T7, and an MRI of the spine demonstrated high signal intensity within the spinal cord from level T3 to T7. Subsequently, he was admitted to the pediatric intensive care unit for further assessment and management. Follow-up revealed recovery of paralysis after 12 months.

UNASSIGNED: Osteoblasts are discovered to secrete hormones with endocrine effects on metabolism, and osteocalcin (OC) is the most abundant non-collagenous protein in bone. We investigate the relationship between serum OC levels and glycolipid metabolism and muscle function in children with osteogenesis imperfecta (OI).
UNASSIGNED: A total of 225 children with OI and 80 healthy controls matched in age and gender were included in this single center study. Serum levels of fasting blood glucose (FBG), triglyceride (TG), total cholesterol (TC), low- and high-density lipoprotein cholesterol (LDL-C, HDL-C) were measured by automated analyzers. Serum levels of fasting insulin (FINS) were measured using an automated electrochemiluminescence system. Serum levels of OC and undercarboxylated osteocalcin (ucOC) were measured by enzyme-linked immunosorbent assay. Grip strength and timed-up-and-go (TUG) test were measured. Bone mineral density (BMD) and body composition were measured using dual-energy X-ray absorptiometry.
UNASSIGNED: OI patients had significantly higher body mass index (BMI), FBG, and HOMA-IR, but lower HDL-C levels, lower grip strength and longer TUG than control group (all P<0.05). Serum OC, ucOC levels, and ucOC/OC in OI type III patients were significantly lower than those in OI patients with type I and IV. Serum levels of OC, ucOC, and ucOC/OC were negatively correlated to BMI, FBG, insulin levels, and HOMA-IR (all P<0.05). The ratio of ucOC/OC was positively correlated to grip strength (r=0.512, P=0.036), lean mass percentage (%LM) of the total body and limbs, and negatively correlated to fat mass percentage (%FM) of the total body, %FM and fat mass index (FMI) of the trunk (all P<0.05).
UNASSIGNED: Obesity, glucolipid metabolic abnormalities, and reduced grip strength were common in children with OI. Circulating osteocalcin and ucOC may play an important role in the regulation of glucose metabolism, as well as the muscle function of children with OI.

A clinical case of a patient with neonatal epilepsy at the age of 5 months, with impaired bone formation, early osteoporosis and frequent limb fractures is described. Panel sequencing confirmed by Sanger sequencing revealed two independent hereditary diseases - osteogenesis imperfect type 1, associated with a mutation in the COL1A1 gene (c.2010delT) and benign non-familial infantile seizures associated with a mutation in the PRRT2 gene (c.649dupC). A unique clinical case of a combination of these diseases is presented.
Описан клинический случай пациента с неонатальной эпилепсией в возрасте 5 мес жизни, с нарушением формирования костной ткани, ранним остеопорозом и частыми переломами конечностей. Методами панельного секвенирования и подтверждающего секвенирования по Сэнгеру выявлены две независимые наследственные болезни — несовершенный остеогенез 1-го типа, ассоциированный с мутацией в гене COL1A1 (с.2010delT), и доброкачественные несемейные инфантильные приступы, ассоциированные с мутацией в гене PRRT2 (c.649dupC). Представлен уникальный клинический случай сочетания данных заболеваний.

OBJECTIVE: To evaluate the genotype-phenotype relationship and the effect of treatment on the clinical course of osteogenesis imperfecta (OI).
METHODS: We established a Chinese hospitalized cohort with OI and followed them up for an average of 6 years. All patients were confirmed as having OI using whole-exome sequencing. We analyzed the genotype-phenotype relationship based on different types, pathogenic mechanisms, and gene inheritance patterns of OI. Additionally, we assessed whether there was a difference in treatment efficacy based on genotype.
RESULTS: One hundred sixteen mutations in 6 pathogenic genes (COL1A1, COL1A2, IFITM5, SERPINF1, FKBP10, and WNT1) were identified in 116 patients with type I, III, IV, V, VI, XI, or XV OI. Compared with patients with COL1A1 mutations, patients with COL1A2 mutations were younger at the time of the first fracture, whereas other phenotypes were similar. When 3 groups (helical, haploinsufficiency, and non-collagen I gene mutations) were compared, patients with helical mutations were the shortest and most prone to dentinogenesis imperfecta. Patients with haploinsufficiency mutations were the oldest at the time of the first fracture. Moreover, patients with non-collagen I gene mutations were least susceptible to blue sclerae and had the highest fracture frequency. Furthermore, there were some minor phenotypic differences among non-collagen I gene mutations. Interestingly, pamidronate achieved excellent results in the treatment of patients with OI, and the treatment effect appeared to be unrelated to their genotypes.
CONCLUSIONS: Our findings indicated a genotype-phenotype relationship and a similar effect of pamidronate treatment in patients with OI, which could provide a basis for guiding clinical treatment and predicting OI prognosis.

The purpose of this study is to present the outcomes all patients with osteogenesis imperfecta (OI) who underwent cementless posterior spinal fusion for the treatment of severe spine deformity in our institution.
All patients with OI who underwent surgical correction of their spine deformity in our institution between 2003 and 2020 were enrolled. The collected data included demographics, operative and follow-up findings, medical history, bisphosphonate therapy, HGT protocol, pre- and post-HGT and postoperative scoliosis and kyphosis curve measurements, hospitalization length, complications, and revision surgeries. General treatment strategies included cessation of bisphosphonate therapy around the surgery, 30-day HGT protocol, titanium rods, cementless screw technique, and a high implant density policy.
Eleven consecutive patients with OI who underwent surgery for spine deformity in our institution were identified. The mean age at surgery was 15.6 ± 2.3. Mean follow-up period was 6.6 ± 5.8 years. The mean pre- and postoperative scoliosis curves were 85.4 ± 19.3° and 43.1 ± 12.5°, respectively, representing a 49.5% correction rate. Five patients underwent HGT and achieved a mean correction of 27.6 ± 7.1° (31.6%) preoperatively. Implant density ratio was 1.5 (screw or hook/level). Mean postoperative hospitalization length was 5.9 ± 1.6 days. One patient had deep wound infection which resolved following treatment according to our protocol for surgical site infection, and one patient had skull penetration by one of the halo pins.
Surgical treatment of severe spine deformity in OI patients with cementless posterior spinal fusion is safe and effective after applying a specific preoperative strategy.

OBJECTIVE: Osteogenesis imperfecta (OI) is a genetic disorder that causes skeletal fragility. For the most fragile infants and young children with OI, intravenous (IV) bisphosphonate administration is essential, but IV access attempts often cause fractures. Port-a-caths help prevent these events, but some surgeons are hesitant to insert these devices in these infants due to lack of data on their safety.
METHODS: Retrospective study of pediatric patients with OI who underwent port-a-cath placement from 1999 to 2018; incidence of complications such as infection and thrombosis and need for reoperation or replacement are described.
RESULTS: Port-a-caths were placed in 17 patients with OI (median age, 8 mos [5-23 mos]; median weight, 5.8 kg [3.96-9.08 kg]) and remained in place for a median of 53.5 mos (10-127 mos). One port-a-cath was replaced because of thrombosis. Two port-a-caths were removed because of malfunction, one for skin erosion, and one for infection. In these five cases, replacement was not needed because patients could safely tolerate IV access. Two patients have their port-a-cath in place and the remaining ten patients had theirs removed electively as it was no longer needed.
CONCLUSIONS: Port-a-cath placement in pediatric patients with OI is safe and efficacious for durable central access, enabling reliable IV bisphosphonate delivery and reducing iatrogenic trauma.

Craniocervical abnormalities in osteogenesis imperfecta (OI) such as basilar invagination or cervical kyphosis can cause severe neurological morbidity. These abnormalities may be more frequent in OI type V compared with other OI subtypes of similar disease severity, underlining the importance of screening in this group.
BACKGROUND: Craniocervical abnormalities in osteogenesis imperfecta (OI) can cause severe neurological morbidity. Although radiological cranial base abnormalities in OI have been well described in the literature, there are limited data on these abnormalities in OI type V and their association with clinical sequelae.
METHODS: A retrospective case series on patients with craniocervical abnormalities in OI type V at our institution.
RESULTS: Craniocervical abnormalities were present in 7 of 37 patients with OI type V (19%). For 5 patients (age at last follow-up: 5 to 26 years; 2 females), sufficient information was available for inclusion in the case series. All had genetically confirmed OI type V. Age range at diagnosis of the craniocervical abnormality was 1 day to 18 years. Basilar invagination was present in 3 patients; 2 had cervical kyphosis. Dysplasia of upper cervical vertebrae or base of skull was seen in 3 patients. The severity of the craniocervical abnormality did not clearly correlate with the severity of the OI phenotype. Three patients required surgical intervention (ages 7, 11, and 26 years) due to compression of the spinal cord or brainstem. Craniocervical abnormalities were detected incidentally or on screening in 3 patients, and only 2 had significant positive findings on neurological examination.
CONCLUSIONS: A variety of craniocervical abnormalities are seen in OI type V including dysplasia of the cervical vertebrae. These cases highlight the importance of screening patients with OI type V with lateral skull and cervical spine x-rays throughout childhood and after skeletal maturity.