Low back complaints worse, but not more frequent in subjects with congenital lumbosacral malformations: a study on 5000 recruits.

The authors studied the plain radiographs and medical records of 5000 military recruits, mean age 19.1 years (range: 18 to 22), screened in a Turkish Military Hospital in the period November 2008-October 2009. They focused on the incidence of congenital lumbosacral malformations, such as spina bifida occulta and transitional vertebra, trying to find a correlation with subsequent low back complaints. Only 80 out of 748 subjects (10.7%) with low back complaints had one or more malformations, versus 744 out of 4252 subjects (17.5%) without low back complaints. This pleaded against a correlation between malformations and low back disorders. Also the literature is completely divided as to this problem, which means that there is probably no correlation at all. Interestingly, the 80 subjects with low back complaints and malformation estimated their pain level at +/- 4.6 on a Visual Analog Scale for pain, while the 668 with low back complaints but without malformation estimated their pain level at only +/- 2.2 (p = 0.007). At least two other studies led to the same conclusion. This paradox might be due to the fact that congenital malformations concentrate all external stress on the adjacent levels.

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.

BACKGROUND: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by increased bone fragility and deformities. Although most patients with OI have heterozygous mutations in COL1A1 or COL1A2, 17 genes have been reported to cause OI, most of which are autosomal recessive (AR) inherited, during the last years. The aim of this study is to determine the mutation spectrum in Turkish OI cohort and to investigate the genotype-phenotype correlation. METHODS: 150 patients from 140 Turkish families with OI phenotype were included in this study. Mutations in OI-related genes were identified using targeted gene panel, MLPA analysis for COL1A1 and whole exome sequencing. 113 patients who had OI disease-causing variants were followed for 1-20 years. RESULTS: OI disease-causing variants were detected in 117 families, of which 62.4% in COL1A1/A2, 35.9% in AR-related genes. A heterozygous variant in IFITM5 and a hemizygous in MBTPS2 were also described, one in each patient. Eighteen biallelic variants (13 novel) were identified in nine genes (FKBP10, P3H1, SERPINF1, TMEM38B, WNT1, BMP1, CRTAP, FAM46A, MESD) among which FKBP10, P3H1 and SERPINF1 were most common. The most severe phenotypes were in patients with FKBP10, SERPINF1, CRTAP, FAM46A and MESD variants. P3H1 patients had moderate, while BMP1 had the mild phenotype. Clinical phenotypes were variable in patients with WNT1 and TMEM38B mutations. We also found mutations in ten genes (PLS3, LRP5, ANO5, SLC34A1, EFEMP2, PRDM5, GORAB, OCRL1, TNFRSF11B, DPH1) associated with diseases presenting clinical features which overlap OI, in eleven families. CONCLUSION: We identified disease-causing mutations in 83.6% in a large Turkish pediatric OI cohort. 40 novel variants were described. Clinical features and long-term follow-up findings of AR inherited OI types and especially very rare biallelic variants were presented for the first time. Unlike previously reported studies, the mutations that we found in P3H1 were all missense, causing a moderate phenotype.

The effects of residual hip deformity on coronal alignment of the lower extremity in patients with unilateral slipped capital femoral epiphysis.

PURPOSE: The aim of our explorative study was to compare the differences in the coronal alignments of the hip, knee and ankle on the slip side and non-slip sides in patients with slipped capital femoral epiphysis (SCFE). METHODS: The study group consisted of 28 patients. On the full-length standing radiographs, measurements of articulo-trochanteric distance (ATD), neck-shaft angle (NSA), femoral offset, hip-knee-ankle axis, femur-tibial angle, mechanical axis deviation ratio (MAD-r), anatomical medial proximal femoral angle (aMPFA), mechanical lateral proximal femoral angle (mLPFA), anatomical lateral distal femoral angle (aLDFA), mechanical lateral distal femoral angle (mLDFA), knee joint line congruency angle, mechanical medial proximal tibial angle (mMPTA), mechanical lateral distal tibial angle (mLDTA), ankle joint line orientation angle (AJOA), and leg length discrepancy (LLD) were performed. The data from the slip side were compared with those from the non-slip side. RESULTS: At skeletal maturity, there were significant differences between the slip side and non-slip side in ATD (p <0.001), NSA (p <0.001), MAD-r (p <0.001), aMPFA (p <0.001), aLDFA (p = 0.03), mLDFA (p = 0.04), mLDTA (p = 0.02), AJOA (p <0.001) and LLD (p<0.001). CONCLUSION: Residual deformity in the proximal femur after epiphyseal slip and premature epiphysiodesis could cause changes in the coronal alignment of the lower extremity. We can add lower extremity alignment examination to follow-up protocol to rule out secondary problems in patients with SCFE. LEVEL OF EVIDENCE: Level III, retrospective comparative study.

Mothers' knowledge of young child development in a developing country.

BACKGROUND: Although interventions on child development target supporting mothers' relationships with their children, little is known about maternal knowledge of child development in developing countries. The purpose of this study was to determine maternal knowledge about child development in Turkey. METHODS: The Caregiver Knowledge of Child Development Inventory (CKCDI) developed for this study consisted of questions on when children begin to demonstrate developmental skills and when caregivers should provide opportunities for developmental stimulation. RESULTS: In total, 1200 mothers of children aged

Thioether excretion of workers exposed to bitumen fumes.

The excretion of thioethers was determined in the urine of workers involved in road paving operations and in the preparation of asphalt mixing in an asphalt plant. An occupationally nonexposed group served as control. From the results it was observed that there was no significant difference in urinary thioether levels between the exposed and nonexposed groups, however, smokers of both exposed groups had significantly higher urinary thioether levels than the nonexposed smoking workers. These results suggested that higher urinary thioether excretion could be only due to a difference in smoking behaviour. There were also significant differences in urinary thioether levels between the exposed smoking and nonsmoking workers. The authors suggest that these workers have a low mutagenic/carcinogenic risk and smoking is responsible for the majority of thioether excretion, as has been found by other investigators.

Urinary thioether excretion in nurses at an oncologic department.

The excretion of thioethers was determined in urine of nurses who were handling cytotoxic drugs. An occupationally non-exposed group served as control. The results showed a significant difference in urinary thioether excretion between the exposed and control persons (P less than 0.05). In both groups, however, higher thioether excretion was found in smokers; both exposed smoking nurses and smoking controls had significantly higher urinary thioether levels than the non-smoking exposed and control persons. The results suggested a synergistic effect of smoking with exposure to cytostatic drugs: thioether excretion of urine from exposed smokers was significantly higher than that of control smokers (P less than 0.05). There was no difference in urinary thioether levels between the non-smoking exposed and control persons (P greater than 0.05). In conclusion, smoking nurses handling cytostatic drugs, have a greater risk than non-smoking colleagues and protective intervention methods should be used by smoking as well as non-smoking hospital employees.