Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.

INTRODUCTION: Rare variants of Alpha-1 antitrypsin (AAT) deficiency (AATD) have been described by the Spanish registry of patients with AATD. The great majority of these rare variants are Mmalton alleles and many recent case series of them have been identified in the Canary Islands. The objective of this study was to analyze the distribution of Mmalton mutations in a Canarian population previously studied for the most common deficient alleles, namely PI*S (S) and PI*Z (Z), with PI*M (M) being the normal variant. METHODS: A cross-sectional study of 648 patients with allergic asthma was carried out. Mmalton mutation of the SERPINA1 gene was assayed by real-time PCR. RESULTS: Of the 648 patients, 3 (0.46%) were carriers of a Mmalton allele. All of them had low levels of AAT (53.9 mg/dL, 90 mg/dL, and 61 mg/dL, respectively) and were asymptomatic, showing normal lung function, radiological images, and levels of hepatic transaminases. CONCLUSION: In conclusion, although the most frequent AATD genotypes are Z and S alleles, it is important to consider other rare variants, particularly when low AAT serum levels are observed. Although individuals with the Mmalton mutation usually have a heterogenous clinical presentation and very low levels of AAT, all the patients in this study were asymptomatic.

Early Complications in Vertical Expandable Prosthetic Titanium Rib and Magnetically Controlled Growing Rods to Manage Early Onset Scoliosis.

OBJECTIVES: The aim of this study is to examine whether surgical treatment of early onset scoliosis (EOS) with magnetically controlled growing rods (MCGRs) or a vertical expandable prosthetic titanium rib (VEPTR) resulted in fewer short-term (24 months) complications and reoperations. BACKGROUND: EOS is a challenging problem for spine surgeons that has been managed with different growth-friendly instrumentation systems. Although rib-based devices encourage spinal growth via regular lengthening, the high rate of complications and reoperations leads us to use spine-based devices such as MCGRs to mitigate this concern. METHODS: A total of 35 EOS patients were included in the study. Twenty patients were included in the VEPTR group, and 15 patients were included in the MCGR group. Demographic data and 2 years of postoperative complications and reoperations were reviewed retrospectively. As secondary outcomes, radiographic outcomes were reported preoperatively and 1 year after surgery. Indications for this technique and complications were collected from the charts. RESULTS: Demographic data showed no significant differences between the 2 groups. Significant differences were found in the complications rate at 2 years, with 65% complications in the VEPTR group and 13.3% complications in the MCGR group (P < .001). The reoperation rate at 2 years was also significantly higher in the VEPTR group, with 50% versus 13.3% in the MCGR group (P = .0009). As secondary outcomes, radiological parameters such as main curve Cobb angle correction (P = .001) and apical vertebral translation (P = .002) were significantly higher in the MCGR group. Significant differences were also found in sagittal profile parameters; T1-T12 and T1-S1 were significantly higher in the MCGR group (P < .001). CONCLUSIONS: According to our results, VEPTR has significantly higher complication and reoperation rates at 2 years postsurgery compared with MCGR. LEVEL OF EVIDENCE: 4.

Staged instrumentation with magnetically controlled growing rods in early-onset scoliosis: indications and preliminary outcomes.

BACKGROUND: Severe scoliosis, kyphosis, stiffer curves, short trunk height, and poor bone density are known risk factors for instrumentation failure with traditional growing rods or magnetically controlled growing rods (MCGR). To minimize the risk of instrumentation failure in managing complex early-onset scoliosis (EOS) with MCGR, we propose a strategy for staged MCGR insertion. METHODS: We performed a single-center retrospective review of all consecutive MCGR cases with 24 months' minimum follow-up. Inclusion criteria included diagnosis of EOS of any etiology with severe and stiff curves in the coronal or sagittal planes, poor bone density, short trunk height (T1-T12 smaller than 150 mm) or previous instrumentation failure managed with staged MCGR. During the first stage, anchor points and halo-gravity were applied, followed by halo-gravity traction. At a second stage, halo-gravity was removed and MCGR were inserted. Outcome measures included pre- and postoperative radiographic measurements and complications. RESULTS: Seventeen patients with a median age of 7 (range 6-9) years were managed in two stages. Indications for two-stage surgery were short trunk height (T1-T12 height less than 150 mm) in six patients, five poor bone quality, three dislodgement of proximal anchor points in previous instrumentation, and three rigid curves. The rate of unplanned revision surgeries was 11.8%. No infections or traction-related complications were found. CONCLUSIONS: According to our results, the staged MCGR insertion strategy combined with halo-gravity traction to manage complex EOS yielded a relatively low instrumentation failure rate as compared with the rates previously reported in the current literature. To our knowledge, this is the first study reporting the staged strategy for instrumentation with MCGR. LEVEL OF EVIDENCE: IV.