Reference genes for proximal femoral epiphysiolysis expression studies in broilers cartilage.

The use of reference genes is required for relative quantification in gene expression analysis and the stability of these genes can be variable depending on the experimental design. Therefore, it is indispensable to test the reliability of endogenous genes previously to their use. This study evaluated nine candidate reference genes to select the most stable genes to be used as reference in gene expression studies with the femoral cartilage of normal and epiphysiolysis-affected broilers. The femur articular cartilage of 29 male broilers with 35 days of age was collected, frozen and further submitted to RNA extraction and quantitative PCR (qPCR) analysis. The candidate reference genes evaluated were GAPDH, HMBS, HPRT1, MRPS27, MRPS30, RPL30, RPL4, RPL5, and RPLP1. For the gene stability evaluation, three software were used: GeNorm, BestKeeper and NormFinder, and a global ranking was generated using the function RankAggreg. In this study, the RPLP1 and RPL5 were the most reliable endogenous genes being recommended for expression studies with femur cartilage in broilers with epiphysiolysis and possible other femur anomalies.

Post-weaning epiphysiolysis causes distal femur dysplasia and foreshortened hindlimbs in fetuin-A-deficient mice.

Fetuin-A / α2-Heremans-Schmid-glycoprotein (gene name Ahsg) is a systemic inhibitor of ectopic calcification. Due to its high affinity for calcium phosphate, fetuin-A is highly abundant in mineralized bone matrix. Foreshortened femora in fetuin-A-deficient Ahsg-/- mice indicated a role for fetuin-A in bone formation. We studied early postnatal bone development in fetuin-A-deficient mice and discovered that femora from Ahsg-/- mice exhibited severely displaced distal epiphyses and deformed growth plates, similar to the human disease slipped capital femoral epiphysis (SCFE). The growth plate slippage occurred in 70% of Ahsg-/- mice of both sexes around three weeks postnatal. At this time point, mice weaned and rapidly gained weight and mobility. Epiphysis slippage never occurred in wildtype and heterozygous Ahsg+/- mice. Homozygous fetuin-A-deficient Ahsg-/- mice and, to a lesser degree, heterozygous Ahsg+/- mice showed lesions separating the proliferative zone from the hypertrophic zone of the growth plate. The hypertrophic growth plate cartilage in long bones from Ahsg-/- mice was significantly elongated and V-shaped until three weeks of age and thus prior to the slippage. Genome-wide transcriptome analysis of laser-dissected distal femoral growth plates from 13-day-old Ahsg-/- mice revealed a JAK-STAT-mediated inflammatory response including a 550-fold induction of the chemokine Cxcl9. At this stage, vascularization of the elongated growth plates was impaired, which was visualized by immunofluorescence staining. Thus, fetuin-A-deficient mice may serve as a rodent model of growth plate pathologies including SCFE and inflammatory cartilage degradation.

Idiopathic slipped capital femoral epiphysis in Amish children.

BACKGROUND: Of the many studies of slipped capital femoral epiphysis, none have specifically addressed Amish children. The Amish reflect a small gene pool relative to the general white North American population. Additional knowledge of the demographics of this disorder in Amish children may provide genetic insights. The purpose of this study was to review the demographics of slipped capital femoral epiphysis in the Amish population. METHODS: A retrospective review of the cases of twenty-five Amish children with slipped capital femoral epiphysis treated at two institutions was performed. The child's gender, age, weight, height, and body mass index at the time of the diagnosis; duration of symptoms; laterality of the slip; birth weight; family history; and slip severity were recorded. The slip was classified as stable or unstable. Patients who had been included in a previously published multicenter study served as a control group. RESULTS: There were seventeen boys and eight girls with a total of thirty-three slipped capital femoral epiphyses; eight of the slips were bilateral. At the time of the diagnosis, the mean age (and standard deviation) was 13.4 +/- 1.6 years, the mean weight and height were 55.6 +/-12.4 kg and 155.5 +/- 10.2 cm, and the mean body mass index was 23.4 +/- 5.4 kg/m(2). The mean duration of symptoms was 6.6 +/-9.0 months. There were thirty-one stable and two unstable slips with a mean slip angle of 38 degrees +/- 20 degrees . Nine (39%) of twenty-three children for whom the information had been recorded had a positive family history of slipped capital femoral epiphysis, a rate that is higher than the 9% and 14.5% rates reported in two other series (p = 0.002). The Amish children were not as heavy as their non-Amish counterparts (55.6 +/- 12.4 kg compared with 66.4 +/- 17.7 kg, p = 0.0036). CONCLUSIONS: Although the children in this study were moderately heavy, they could not be classified as obese on the basis of weight-for-age or body-mass-index percentiles. The high prevalence of family members with slipped capital femoral epiphysis may reflect either a genetic or environmental component, or an interaction between genetics and environment (for example, work load or common chores requiring particular physical positions) in the Amish population.

[Epiphyseolysis capitis femoris (ECF) in monozygotic twins]. / Epiphyseolysis capitis femoris (ECF) bei eineiigen Zwillingen.

AIM: The frequency of bilateral slipped capital femoral epiphysis (SCFE) is 5-80%. A set of boy twins developed left-sided SCFE within 2 years. We tried to find a relationship between SCFE and HLA typing. METHOD: We obtained the HLA typing and compared it to previously reported cases. RESULTS: By comparing 14 gene loci we made sure that they are identical twins. In our patients as well as in may of previously reported cases of sets of boy twins HLA phenotype A2 were found, while in the sets of girl twins HLA phenotype A11 and B12 were found. CONCLUSIONS: HLA phenotyping is needed in a larger number of SCFE twin cases to evaluate phenotypic patterns for coincidence to provide a basis for the genetic expression of this condition.

A common HLA phenotype in slipped capital femoral epiphysis?

Studies from three different countries have linked the HLA B12 and DR4 antigens with slipped capital femoral epiphysis (SCFE). We questioned whether our patients shared in common either of these antigens. HLA phenotype was determined in 7 patients with SCFE, two of whom were brothers with almost identical haplotypes. The B12 antigen was found in none of our patients and the DR4 in only 3. Neither of the 2 brothers held the DR4 antigen. The commonest antigens (also shared by the 2 brothers) were B35, present in 5 and DR52 in 4 of 7 patients. We conclude that neither the previously described B12 nor the DR4 antigen can reliably serve as genetic markers for SCFE in our region.

Total hip arthroplasty in patients with Down's syndrome.

Hip disease occurs in between 8% and 28% of patients with Down's syndrome, many of whom develop disabling pain. We have carried out total hip replacement in six adult patients (9 hips) with severe arthritis of the hip. The mean follow-up was 7.75 years (2 to 14). At the latest review, all had relief of pain and full hip function. Increasing longevity and a high incidence of hip disease in these patients suggest a greater role for total hip arthroplasty in the future.

Slipped capital femoral epiphysis. A report of 4 cases occurring in one family.

We describe slipped capital femoral epiphysis in 4 members of a black, obese family, who were all first-degree relatives. The aetiology of slipped capital femoral epiphysis is unknown, although it is thought to be multifactorial. Genetic predisposition and environmental factors have been associated with the condition. A familial incidence with at least two cases in the same family has been reported. In epidemiological studies, this incidence ranges from 3% to 35%. Our cases were investigated in an attempt to find a possible aetiological genetic factor. A genetic predisposition with an autosomal dominant pattern of transmission is suggested, although environmental variables must be considered as provocative factors.

Familial slipped capital femoral epiphysis: a report and considerations in management.

BACKGROUND: Familial inheritance of slipped capital femoral epiphysis (SCFE) is known. It has not been described in non-identical twins. A family where the mother and three of five siblings developed SCFE were investigated and managed. METHODS: Anthropometric measurement consisted of height-weight ratios. Serum sex hormone levels and bone Gla Protein was measured. Bone mineral densities were evaluated. RESULTS: The affected siblings had higher bodyweight percentiles. Other investigations were within normal limits. CONCLUSION: The unfavourable height-to-weight ratio was one of the mainstays in developing a management protocol for all siblings. The management protocol developed for the family is discussed.

The HLA phenotype in slipped capital femoral epiphysis.

The HLA genotypes of six patients with acute grade I slipped capital femoral epiphysis as determined by microlymphocytotoxic technique revealed HLA-DR4 as their phenotypes. These results contradict the previously reported HLA-B12 as the phenotype of patients with slipped capital femoral epiphysis.

[Unusual familial case of epiphyseolysis capitis femoris lenta]. / Az epiphyseolysis capitis femoris lenta ritka családi elöfordulása.

A rare case of familial slipped capital femoral epiphysis is discussed. Of total five siblings four were affected. All the cases, except one boy, were treated in the Orthopaedic Department of the Medical University Pécs. The fourth affected child was treated conservatively because of the consecutive osteoarthritis, the other three were treated operatively. The literature is reviewed. The possible etiological factors are discussed emphasizing the role of heredity and it can be concluded that the endocrine constitution predisposing to epiphyseolysis be hereditary.

Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome.

The association of Rubinstein-Taybi syndrome (RTS) and slipped capital femoral epiphysis (SCFE) is described in a girl aged 9 years and 10 months. SCFE has never been reported associated with RTS, neither as an isolated anomaly, nor in a familial pedigree. However, a "stiff gait" is frequently described in RTS patients and, furthermore, obesity is a frequent feature of RTS patients. Some reports in the literature suggest the need for an early diagnosis of SCFE among adolescent relatives of patients with SCFE. Since many SCFEs are asymptomatic and an early diagnosis is essential for a favorable prognosis, we suggest an annual echotomographic or radiological examination of the hips in RTS patients.

Familial slipped capital femoral epiphysis.

In 50 consecutive cases of slipped capital femoral epiphysis (SCFE) from 49 families, the heredity was analyzed by radiographic examination of the first-degree relatives and by interview regarding the second-degree relatives. In four of the 49 families, SCFE was obvious in one or more first-degree relatives; and in another 13 families (14 relatives), radiographic signs of SCFE were found besides the primary case. The familial accumulation was much higher than expected from incidence studies, indicating a hereditary factor in the etiology.

Slipped capital femoral epiphysis in three generations.

A male, his son, and grandson all had a slipped capital femoral epiphysis (physiolysis colli femoris--PCF). The importance of inheritance in PCF is discussed.