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.

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.

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.

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites.

Background And Objective: Severe alpha1 antitrypsin deficiency has been clearly associated with pulmonary emphysema, but its relationship with bronchial asthma remains controversial. Some deficient alpha 1 antitrypsin (AAT) genotypes seem to be associated with asthma development. The objective of this study was to analyze the distribution of AAT genotypes in asthmatic patients allergic to house dust mites (HDM), and to asses a possible association between these genotypes and severe asthma.