ß-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report.

We identified a novel mutation in the SUPT5H gene in a Chinese female who presented with a ß-thalassemia trait. The substitution of c.193C > T (p.Arg65*) leads to a premature stop codon on residue 65 and could be associated with haploinsufficiency. This variant was inherited from the mother who also had the asymptomatic phenotype of ß-thalassemia trait. Our case further supports the role of SUPT5H as a potential ß-globin chain production-modulating gene.

[Clinical experience about manipulative reduction of the radialis and ulnar fractures].

OBJECTIVE: To observe the clinical efficacy about manipulative reduction of the radialis and ulnar fractures. METHODS: From June 2005 to June 2009, 85 patients with radialis and ulnar fractures, 50 males and 35 females, ranging in age from 1 to 20 years with an average of 10.8 years, were treated with manipulative reduction and external fixation by small splint. There were 53 cases of direct violence, 30 cases of transmission violence, 2 cases of reversing violence; and there were 6 cases of comminuted fracture, 8 cases of spiral fracture, 21 cases of oblique fracture, 50 cases of serrated or transverse fracture. The clinical effects were analyzed according to Anderson criterion. RESULTS: Forty-two cases obtained anatomical reduction and 35 cases obtained nearly anatomical reduction and 8 cases occurred re-displacement. Eight cases of re-displacement were re-fixed after manipulative reduction, 2 cases obtained anatomical reduction and 4 cases obtained nearly anatomical reduction; 2 cases unsuccessfully were diverted to open reduction and internal fixation. All the fractures obtained clinically healing with average of 42 days (ranged from 28 to 80 days). All patients were followed up from 3 to 10 months with an average of 7.5 months. According to Anderson criterion, 77 case got excellent result, 5 good, 3 fair. CONCLUSION: Manipulation and external fixation by small splint for the treatment of radialis and ulnar fractures, have advantage of less trauma, forceful fixation, quick healing, cheap cost, which can obtain satisfactorily clinical effects.

[Comparison study of small splint fixation and plaster slab fixation for the treatment of distal radius fractures].

OBJECTIVE: To study the advantage of fir bark splint for the treatmet of distal radius fracture. METHODS: From January 2006 to June 2008, 80 cases were randomly divided into two groups and treated by fir bark splint fixation or plaster fixation. There were 40 cases in the fir bark splint group, including 18 males and 22 females with an average age of 45.2 years ranging from 20 to 66 years. There were 40 cases in the plaster group, including 19 males and 21 females with an average age of 44.1 years ranging from 23 to 65 years. Four weeks after manipulative reduction and external fixation, the fixtion effect, function recovery, bone mineral density of secondly metacarpus were obsearved by X-ray film, and the clinical effect were evaluated according to healing time ahead of schedule. RESULTS: As compared between the two groups, the fixation effect of the fir bark splint group was better than that of the plaster group (Z = -2.844, P = 0.004 < 0.05); the function recovery of the fir bark splint group was better than that of the plaster group (Z = -3.196, P = 0.001 < 0.05); the bone mineral density of secondly metacarpus of the fir bark splint group were better than that of plaster group (t = 4.56, P < 0.001); the curative effect of fir bark splint group was better than that of the plaster group (Z = -2.601, P = 0.009 < 0.05). CONCLUSION: Fir bark splint could effectively keep fixation stability and promote fracture healing as well as function recovery.