ABSTRACT
As injury to distal tibiofibular syndesmosis is commonly associated with ankle fractures,it calls for timely and correct diagnosis and treatment because it might result in chronic pain and ankle instability.Its severe cases can lead to traumatic arthritis.Stable injury to distal tibiofibular syndesmosis can be treated conservatively,but internal fixation is mostly recommended for severe cases of the injury.Internal fixation with metal screws usually requires a secondary surgery for removal of the implants but application of bioabsorbable screws overcomes this trouble and avoids a secondary surgery and its related complications.This article reviews the advantages of bio-absorbable screws,choice of bioabsorbable materials and screws,therapeutic outcomes and adverse reactions in the treatment of distal tibiofibular syndesmotic injury.
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the clinical value of multicolor melting curve analysis(MMCA) for detecting genetic mutations in G6PD deficiency.</p><p><b>METHODS</b>A total of 402 peripheral blood samples(256 males and 146 females) were collected from suspected patients or their relatives at the Prenatal Diagnosis Center of Liuzhou Maternal and Child Health Hospital between March 2012 and May 2012. The samples were screened by G6PD/6PGD quantitative ratio testing. The reliability of the assay was evaluated by multiplex probe melting curve assay(which can detect 16 G6PD mutations) and DNA sequencing through a double blind study.</p><p><b>RESULTS</b>One hundred seventy cases with G6PD/6PGD ratio < 1.0 and 232 cases with G6PD/6PGD ratio ≥ 1.0 were detected by the enzymological method. DNA sequencing has identified 182 wild type samples, 151 hemizygous mutation samples, 5 female homozygous mutation samples, 54 female heterozygous mutation samples and 10 female double heterozygous mutation samples. Multicolor melting curve analysis has detected 185 wild type samples, 148 hemizygous mutation samples, 5 female homozygous mutation samples, 55 female heterozygous mutation samples and 9 female double heterozygous mutation samples. The specificity and sensitivity of G6PD gene mutation detection by multicolor melting curve analysis were 100%(182/182) and 98.6%(217/220), respectively. The positive predictive value and negative predictive value were 99.5%(216/217) and 98.4%(182/185), respectively, and the Youden's index was 0.986. The concordance rate of the sample detection between the melting curve assay and DNA sequencing was 99.0%(398/402). Twenty-one different genotypes were detected by the multicolor melting curve analysis and 24 different genotypes were detected by DNA sequencing. Four samples containing mutations(c.196T>A or c.406C>T) were not detected by multicolor melting curve analysis, which can be attributed to different technical settings of the two methods.</p><p><b>CONCLUSION</b>Multicolor melting curve analysis for G6PD gene mutation detection is a simple, rapid, sensitive and specific method, which can be used for clinical diagnosis of G6PD deficiency.</p>
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Glucosephosphate Dehydrogenase , Genetics , Mutation , Polymerase Chain Reaction , Methods , Sequence Analysis, DNAABSTRACT
β-thalassemia is one of the most common monogenic genetic disorders in the world,and represents a major public health problem among humans.This review descrihes the latest technical development of molecular diagnosis of β-thalassemia from the perspective of clinical settings.Related techniques including reverse dot blot,minisequencing,real-time PCR,and non-invasive prenatal diagnosis,etc.are discussed regarding their principles,features and trends.