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Objective Digital plain radiographs of the full leg are frequently performed examinations of children and young adults. Thus, the objective of this work was to reduce the radiation exposure dependent on specific indications, and to determine objective quality-control criteria to ensure accurate assessment. Materials and methods Institutional review board approval and informed consent of all participants were obtained. In this prospective, randomized controlled, blinded, two-armed single-center study, 288 evaluable patients underwent plain radiography of the full leg with standard and reduced doses. The evaluation of the plain radiographs was conducted using the following criteria: mechanical axis, leg length, and maturation of the epiphyseal plate. Two blinded radiologists evaluated these criteria using a score ranging from 1 (definitely assessable) to 4 (not assessable). If a single criterion had been evaluated with a score of 3 or more points or all criteria with 2 points, the radiograph was scored as “not assessable”. The study was designed as a non-inferiority trial. Results Eleven (3.8 %) examined X-rays were scored as not assessable. The rate of non-assessable radiographs with 33 % reduced dose was significantly not inferior to the rate of non-assessable radiographs with standard dose. The evaluation of the quality criteria was dose independent. Conclusions Full-leg plain radiography in patients with knee malalignment can be performed at 33 % reduced dose without loss of relevant diagnostic information.

Rapid body weight gain in broilers overloads the metabolic system of the organism, resulting in leg abnormalities, which seriously affects animal welfare and industry economics. In this study, broilers with normal and deformed leg bones were examined. Serum biochemical indices showed that the serum calcium to phosphorus ratio was extremely decreased in leg deformed group. In addition, abnormal serum lipid levels suggested a disruption in lipid metabolism. Based on widely targeted metabonomic analysis of serum and cartilage tissues, a total of nine differential metabolites (DMs) significantly associated with leg abnormalities and serum calcium and phosphorus levels were screened, including carnitine C16:0, carnitine C18:1, 3‐hydroxymethyl‐L‐tyrosine, cis‐4‐hydroxy‐D‐proline, cis‐L‐3‐hydroxyproline, trans‐4‐hydroxy‐L‐proline, and so on. Pathway analysis revealed that fatty acid degradation and arachidonic acid metabolism were enriched. Analysis of DMs in these two pathways showed that prostaglandin D2, prostaglandin J2, prostaglandin A2, 15‐keto prostaglandin F2α, and Δ12‐prostaglandin J2 significantly differed between the normal and abnormal groups. It was hypothesized that these important metabolic pathways and metabolites were involved in the metabolic regulation of leg abnormalities. The graphical shows the principal results of this study. Compared to the leg normal broilers, the serum calcium to phosphorus ratio was extremely decreased in the group with deformed leg bones. Additionally, a total of nine differential metabolites significantly associated with leg abnormalities and serum calcium and phosphorus levels were screened, including carnitine C16:0, carnitine C18:1, 3‐hydroxymethyl‐L‐tyrosine, cis‐4‐hydroxy‐D‐proline, cis‐L‐3‐hydroxyproline, trans‐4‐hydroxy‐L‐proline, and so on. The pathway of differential metabolites was enriched, and the top 20 metabolic pathways were enriched in fatty acid degradation and arachidonic acid metabolism. Analysis of differential metabolites in these two pathways showed that prostaglandin D2, prostaglandin J2, prostaglandin A2, 15‐keto prostaglandin F2α, and Δ12‐prostaglandin J2 significantly differed between the normal and abnormal groups. Conclusively, these important metabolic pathways and metabolites were involved in the metabolic regulation of leg abnormalities.

The ill-named “logic of monsters” hypothesis of Pere Alberch - one of the founders of modern evo-devo - emphasized the importance of “internal rules” due to strong developmental constraints, linked teratologies to developmental processes and patterns, and contradicted hypotheses arguing that birth defects are related to a chaotic and random disarray of developmental mechanisms. We test these hypotheses using, for the first time, anatomical network analysis (AnNA) to study and compare the musculoskeletal modularity and integration of both the heads and the fore- and hindlimbs of abnormal cyclopic trisomy 18 and anencephalic human fetuses, and of normal fetal, newborn, and adult humans. Our previous works have shown that superficial gross anatomical analyses of these specimens strongly support the “logic of monsters” hypothesis, in the sense that there is an ‘order’ or ‘logic’ within the gross anatomical patterns observed in both the normal and abnormal individuals. Interestingly, the results of the AnNA done in the present work reveal a somewhat different pattern: at least concerning the musculoskeletal modules obtained in our AnNA, we observe a hybrid between the “logic of monsters” and the “lack of homeostasis” hypotheses. For instance, as predicted by the latter hypothesis, we found a high level of left-right asymmetry in the forelimbs and/or hindlimbs of the abnormal cyclopic trisomy 18 and anencephalic human fetuses. That is, a network analysis of the organization of/connection between the musculoskeletal structures of these fetuses reveals a more “chaotic” pattern than that detected by superficial gross anatomical comparisons. We discuss the broader developmental, evolutionary, and medical implications of these results.

IntroductionMesomelic dysplasias are a group of skeletal disorders characterised by shortness of the middle limb segments (mesomelia). They are divided into 11 different categories. Among those without known molecular basis is mesomelic dysplasia Savarirayan type, characterised by severe shortness of the middle segment of the lower limb.ObjectiveTo identify the molecular cause of mesomelic dysplasia Savarirayan type.Methods and resultsWe performed array comparative genomic hybridisation in three unrelated patients with mesomelic dysplasia Savarirayan type and identified 2 Mb overlapping de novo microdeletions on chromosome 6p22.3. The deletions encompass four known genes: MBOAT1, E2F3, CDKAL1 and SOX4. All patients showed mesomelia of the lower limbs with hypoplastic tibiae and fibulae. We identified a fourth patient with intellectual disability and an overlapping slightly larger do novo deletion also encompassing the flanking gene ID4. Given the fact that the fourth patient had no skeletal abnormalities and none of the genes in the deleted interval are known to be associated with abnormalities in skeletal development, other mutational mechanisms than loss of function of the deleted genes have to be considered. Analysis of the genomic region showed that the deletion removes two regulatory boundaries and brings several potential limb enhancers into close proximity of ID4. Thus, the deletion could result in the aberrant activation and misexpression of ID4 in the limb bud, thereby causing the mesomelic dysplasia.ConclusionsOur data indicate that the distinct deletion 6p22.3 is associated with mesomelic dysplasia Savarirayan type featuring hypoplastic, triangular-shaped tibiae and abnormally shaped or hypoplastic fibulae.

Background Malalignments of the lower extremity are common reasons for orthopedic consultation because it may lead to osteoarthritis in adulthood. An accurate and reliable radiological assessment of lower limb alignment in children and adolescents is essential for clinical decision-making on treatment of limb deformities and for regular control after a surgical intervention. Objective First, does the analysis of full-length standing anteroposterior radiographs show a good intra- and interobserver reliability? Second, which parameter is most susceptible to observer-dependent errors? Third, what is the Standard Error of Measurement (SEM 95% ) of the absolute femoral and tibial length? Methods Two observers evaluated digital radiographs of 144 legs from 36 children and adolescents with pathological valgus alignment before a temporary hemiepiphysiodesis and before implant removal. Parameters included Mechanical Femorotibial Angle (MFA), Mechanical Axis Deviation (MAD), mechanical Lateral Distal Femoral Angle (mLDFA), mechanical Medial Proximal Tibial Angle (mMPTA), mechanical Lateral Proximal Femoral Angle (mLPFA), mechanical Lateral Distal Tibial Angle (mLDTA), Joint Line Convergence Angle (JLCA), femur length, tibial length. Intra- and interobserver reliability (ICC 2,1 ), SEM 95% and proportional errors were calculated. Results The intra- and interobserver reliability for almost all measurements was found to be good to excellent (Intra-ICC 2,1 : 0.849–0.999; Inter-ICC 2,1 : 0.864–0.996). The SEM 95% of both observers was found to be ± 1.39° (MFA), ± 3.31 mm (MAD), ± 1.06° (mLDFA) and ± 1.29° (mMPTA). The proportional error of MAD and MFA is comparable (47.29% vs. 46.33%). The relevant knee joint surface angles show a lower proportional error for mLDFA (42.40%) than for mMPTA (51.60%). JLCA has a proportional error of 138%. Furthermore, the SEM 95% for the absolute values of the femoral and tibial length was 4.53 mm for the femur and 3.12 mm for the tibia. Conclusions In conclusion, a precise malalignment measurement and the knowledge about SEM 95% of the respective parameters are crucial for correct surgical or nonsurgical treatment. The susceptibility to error must be considered when interpreting malalignment analysis and must be considered when planning a surgical intervention. The results of the present study elucidate that MAD and MFA are equally susceptible to observer-dependent errors. This study shows good to excellent intra- and interobserver ICCs for all leg alignment parameters and joint surface angles, except for JLCA. Trial registration : This study was registered with DRKS (German Clinical Trials Register) under the number DRKS00015053. Level of evidence I, Diagnostic Study.

BackgroundOllier’s disease can cause severe length discrepancy of the lower extremities and deformity in children. Osteotomy and limb lengthening with external fixation can correct the limb deformity. This study evaluated (1) whether the duration of external fixation was reduced in patients with Ollier’s disease, and (2) the incidence of complications such as pin tract infection, external fixation loosening, and joint stiffness.MethodsTwo groups were compared with respect to age, angular correction (AC), lengthening gap (LG), distraction index (DI), lengthening length (LL), lengthening length percentage (L%), lengthening index (LI), bone healing index (BHI), and external fixation index (EFI). Group 1 (Ollier’s disease) comprised nine patients undergoing 11 lower limb lengthening procedures using external fixators; group 2 (control, normal lengthened bone) comprised 28 patients undergoing 29 lengthening procedures with external fixators.ResultsIn patients with Ollier’s disease, full correction of the deformity and full restoration of length were achieved in all cases. In the femur, the mean AC (15.97° vs. 6.72°) and DI (1.11 mm/day vs. 0.78 mm/day) were significantly larger, while the LI (9.71 days/cm vs. 13.49 days/cm), BHI (27.00 days/cm vs. 42.09 days/cm), and EFI (37.86 days/cm vs. 56.97 days/cm) were all significantly shorter in group 1 than in group 2 (p < 0.05). In the tibia, the mean AC and L% were larger, while the LG, LI, BHI, and EFI were all shorter in group 1 than in group 2. There was no significant difference between the two groups in the incidence of complications.ConclusionIn children with Ollier’s disease, new bone formation accelerated and the healing speed of the lengthened segments was faster throughout the whole lengthening period with external fixation, and full correction of the deformity and full restoration of length could be achieved.Level of Evidence III

The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow’s milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified.

In this poetic, introspective memoir, Kenny Fries illustrates his intersecting identities as gay, Jewish, and disabled. While learning about the history of his body through medical records and his physical scars, Fries discovers just how deeply the memories and psychic scars run. As he reflects on his relationships with his family, his compassionate doctor, the brother who resented his disability, and the men who taught him to love, he confronts the challenges of his life. Body, Remember is a story about connection, a redemptive and passionate testimony to one man’s search for the sources of identity and difference.

Angular deformities can be treated with corrective osteotomies and application of internal or external fixation. In children, this major intervention can be avoided with temporary hemiepiphysiodesis (i.e., guided growth). Recently, a new device called the eight-Plate Guided Growth System, consisting of a two-hole plate and two screws, was presented as an alternative to the widely used Blount staple to perform temporary hemiepiphysiodesis in children. Forty-three patients (54 physes, 51 limbs) underwent treatment between August 2004 and December 2005 with average follow-up after plate insertion of 2 years 2 months (range, 1 year 6 months to 2 years 6 months). Rate of correction and reversibility of this intervention were calculated. Average age at eight-Plate implantation was 9 years 7 months (age range, 4 years 0 months to 14 years 3 months). eight-Plates were inserted for an average 14.2 months (range, 5.0–27.4 months). No growth disturbance was observed. Mechanical lateral distal femoral angle changed an average 10.00 degrees (range, 1–18 degrees) or 0.65 degrees/month (range, 0.05–1.22 degrees/month). Medial proximal tibial angle changed an average 7.78 degrees (range, 0–14 degrees) or 0.58 degrees/month (range, 0.13–1.67 degrees/month). In the two distal tibial cases, lateral distal tibial angle improved 6 degrees and 10 degrees (average change, 0.44 degrees/month). Mechanical axis deviation improved an average 25.4 mm (range, 0–74 mm) or 1.73 mm/month (range, 0–6.4 mm/month). Ten patients (13 limbs) had more than 10 months of radiographic follow-up after plate removal; ten limbs showed average rebound of 15.7 mm or 1.0 mm/month, indicating the reversibility of this procedure. Four cases failed to achieve correction. The eight-Plate effectively treats angular deformities in growing children and is less likely to extrude spontaneously than the Blount staple. We have not observed growth disturbance or other complications related to this device.

Rhabdomyosarcoma (RMS) is a common soft tissue sarcoma in childhood, however, it is very rare in the neonatal period (0.4–2% of cases). This case depicts a boy, who presented with RMS at two weeks of age, but officially diagnosed at the age of three months. MRI and scintigraphy determined a soft tissue tumor in the soleus muscle, while biopsy confirmed embryonal RMS with high mitotic activity (Ki67 (monoclonal antibodies) ~80%). CWS (Cooperative Weichteilsarkom Studiengruppe)-2012 with I2VA (ifosfamide, vincristine, actinomycin) chemotherapy regimen was administered per protocol. Surgical treatment was performed at age of six months and 18 days. The operation consisted of radical tumor resection and total triceps surae with partial fibula resection. Immediate reconstruction of triceps muscle was accomplished using a vascularized functional musculocutaneous vastus lateralis flap. Functional outcome was measured using the Lower Extremity Functional Scale (LEFS) and the Foot and Ankle Outcome Score (FAOS) with the results of 92.5% and 99% respectively.