Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.

OBJECTIVE: To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation. STUDY DESIGN: Both siblings were clinically characterized and homozygosity mapping and sequencing of candidate genes were applied. The contribution of nonsense-mediated messenger RNA (mRNA) decay to the expression of mutant mRNA in fibroblasts of a healthy carrier and a control was studied by pyrosequencing. RESULTS: We identified the first homozygous SALL1 mutation, c.3160C > T (p.R1054*), in 2 female siblings presenting with multiple congenital anomalies, central nervous system defects, cortical blindness, and absence of psychomotor development (ie, a novel recognizable, autosomal recessive MCA-MR). The mutant SALL1 transcript partially undergoes nonsense-mediated mRNA decay and is present at 43% of the normal transcript level in the fibroblasts of a healthy carrier. CONCLUSION: Previously heterozygous SALL1 mutations and deletions have been associated with dominantly inherited anal-renal-radial-ear developmental anomalies. We identified an allelic recessive SALL1-related MCA-MR. Our findings imply that quantity and quality of SALL1 transcript are important for SALL1 function and determine phenotype, and mode of inheritance, of allelic SALL1-related disorders. This novel MCA-MR emphasizes SALL1 function as critical for normal central nervous system development and warrants a detailed neurologic investigation in all individuals with SALL1 mutations.

The influence of advanced age in bone healing after intramedullary limb lengthening.

BACKGROUND: Distraction osteogenesis with an intramedullary motorized nail is a well-established method to treat leg length discrepancy (LLD). The complex process of bone consolidation is affected by age, location, comorbidities, smoking and gender. The purpose of this case series was to investigate influencing factors in bone regeneration after intramedullary callus distraction. HYPOTHESIS: Advanced age influences the outcome of intramedullary limb lengthening. PATIENTS AND METHODS: This retrospective analysis included 19 patients after intramedullary telescopic nailing (PRECICE) on the lower limb with a mean age of 43 years. Bone healing was assessed by distraction and healing parameters such as distraction-consolidation time (DCT), distraction index (DI), healing index (HI), lengthening index (LI), and consolidation index (CI). RESULTS: Confounding factors such as smoking, previous operations on the treated bone, but also the occurrence of complications, and the number of revision surgeries are independent of the patients' age. Younger patients showed a shorter distraction distance, a lower DCT, a lower DI, a higher HI, and a higher CI than older patients. The complication rate requiring nail exchange was higher among the younger patients. Bony healing was observed in all age groups treated with a telescopic nail regardless of age. CONCLUSION: Advanced age did not influence bone healing or complication rate in intramedullary lengthening. However, the conclusion is limited by the small patient number. LEVEL OF EVIDENCE: IV; Case control study.

A Comparison of Dynamic Hip Screw and Two Cannulated Screws in the Treatment of Undisplaced Intracapsular Neck Fractures-Two-Year Follow-Up of 453 Patients.

One of the most common fractures is that of the intracapsular femoral neck; however, the optimal implant for head-preserving treatment remains controversial. The aim of the study was to compare the outcomes of treating undisplaced intracapsular femoral neck fractures with either the dynamic hip screw (DHS) or the double cannulated screw fixation (CSFN). This retrospective cohort study analysed the data of 453 patients, with a mean age of 76.9 years, whose intracapsular fractures were treated with the DHS or CSFN between 2005 and 2013. The analysis focused on the rates of revision surgeries and complications; however, the impact of confounding exogenous factors, such as smoking and alcohol, were also considered. No significant difference was observed between the revision rates of DHS and CSFN (15.0% vs. 13.1%; p = 0.565). According to the complication rate, the advantage in favour of the CSFN was not significant (20.5% vs. 13.1%, p = 0.038). The use of the DHS was associated with a 13 min longer surgery (p < 0.0001) and a one day longer hospitalization (p = 0.242). Excessive consumption of alcohol was associated with an increased incidence of avascular necrosis (18.6% vs. 8.7%, p = 0.035). The choice of implant showed no significant impact on rates of revision surgery and complications. In terms of socioeconomic factors, the fixation with two cannulated screws was more favourable, making it the more cost-effective and less stressful method.