Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria

Two methods, spectrophotometry and HPLC, were compared in the analyses of 3-hydroxy-3-methylglutaryl-CoA lyase (HL) activity in three unrelated Czech patients with 3-hydroxy-3-methylglutaric (HMG) aciduria and their family members. The HL activities in cultured fibroblasts and/or isolated lymphocytes of probands were below the detection limits of the methods used. Both methods were also suitable for recognition of all heterozygotes in affected families. We searched for pathogenic mutations in the HL gene. Molecular analyses revealed that two patients are homozygous for known mutation H233R and R41Q, respectively, whereas the third patient is a compound heterozygote for the mutation H233R and a novel mutation Pro9fs(−1). This study expands the knowledge of the genotypic variability of the HMG aciduria. This revised version was published online in September 2006 with corrections to the Cover Date.     

Rare variants of Cutaneous Leishmaniasis: whitlow, paronychia, and sporotrichoid

Cutaneous Leishmaniasis is endemic in certain areas of Pakistan, with the wet form of the disease being the most prevalent. It has a number of morphological variants, which are dependent on the immune status of the host, the subspecies of the Leishmania, and also, to some extent, on the site of involvement. We describe here a case of Leishmaniasis showing two very rare variants, whitlow and paronychial lesions, occurring concurrently with sporotrichoid spread. The patient responded to intramuscular sodium stibogluconate with resolution of the skin lesions.     

Estrogen receptors in human pulp tissue

OBJECTIVE: The aim of this study was to evaluate the expression of estrogen receptor (ER)-alpha in human pulp tissue. STUDY DESIGN: Tissue samples were collected from 51 teeth extracted for orthodontic reasons or from endodontically treated teeth. Immunohistochemical staining was performed with mouse antihuman ER-alpha 1D5 by using the alkaline phosphatase antialkaline phosphatase technique. Immunohistochemical reactivity was semiquantitatively assessed and graded on an intensity scale of 0 to 3. RESULTS: ERs were found in odontoblasts, endothelial cells, and Schwann cells. By means of statistical analysis, ERs were found to be common in odontoblasts (1.3-1.6) and in endothelial cells (1.0-1.4), whereas in Schwann cells they were somewhat rare (0.7-1.1). Difference in expression of ERs was not found among patients in different age groups. With respect to sex, a difference in reactivity was observed in Schwann cells, which showed higher reactivity in female pulps. CONCLUSION: The results of this study confirm the expression of ER-alpha in the human dental pulp.     

The significance of the size and type of surface of prepared teeth for retention of permanent dentures fixed with zinc-phosphate cement

The purpose of this paper was to establish, in vitro, the impact of different sizes and prepared teeth roughness on the adhesion strength with cast crowns. Twenty human intact premolars were used in the experiment. They were prepared and divided into two groups depending on the fineness of diamond prepared instrumentation. Sizes of prepared teeth were calculated mathematically, while the dentine roughness was measured by a profile meter. The cast crowns were made by a standard method for each group. The crowns were then cemented with a zinc phosphate cement. After seven days, testing of prepared teeth and cast crowns bonding strength was carried out mechanically in an electronic dynamometer. On the basis of the obtained results the relationship between the size and the accomplished roughness with the obtained values of the retention forces is observed. At the constant convergence angle of the stamp the retention is proportional to the stamp size and the roughness profile.     

Single fibers of skeletal muscle as a novel graft for cell transplantation to the heart

OBJECTIVE: Skeletal myoblast transplantation is a promising alternative to treat heart failure. A single fiber, the minimal functional unit of skeletal muscle, retains skeletal myoblasts beneath the basal lamina. When surrounding muscle is injured, myoblasts migrate from the fiber into the damaged area to regenerate muscle. We hypothesized that such isolated fibers could be used as an efficient vehicle to deliver myoblasts into damaged myocardium, resulting in improved cardiac function. METHODS: Living single fibers of rat skeletal muscle were isolated, and their behavior was characterized in vitro. Single fibers were injected into the myocardium (at 4 sites, each receiving a single fiber) of rats in 2 models of heart failure induced either by means of doxorubicin administration or left coronary artery occlusion. RESULTS: Skeletal myoblasts dissociated from an isolated single fiber, proliferated, and differentiated into multinucleated myotubes in vitro. Within 3 days after grafting in vivo, original fibers provided putative myoblasts and disappeared. At 4 weeks, discrete loci consisting of several multinucleated myotubes were observed. Furthermore, single-fiber transplantation significantly improved cardiac function compared with the control treatment in either doxorubicin-treated hearts (maximum dP/dt, 4013.9 +/- 96.1 vs 3603.1 +/- 102.3 mm Hg/s; minimum dP/dt, -2313.7 +/- 75.1 vs. -2057.1 +/- 52.4 mm Hg/s) or ischemic hearts (maximum dP/dt, 3905.6 +/- 103.0 vs 3572.6 +/- 109.7 mm Hg/s; minimum dP/dt, -2336.1 +/- 69.7 vs -2106.4 +/- 74.2 mm Hg/s). CONCLUSION: Single-fiber transplantation acts as a vehicle for delivering putative skeletal myoblasts that appear to differentiate into myotubes within the myocardium. This was associated with improved function of failing hearts, suggesting its efficacy as a novel graft for cellular cardiomyoplasty.     

Popliteal traumatic arteriovenous fistulas

BACKGROUND: The purpose of this report is to analyze the clinical presentation, diagnosis, and outcome of surgical treatment in patients with popliteal arteriovenous fistulas (AVFs) in order to make trauma surgeons aware of the various issues patients with popliteal AVFs might present. METHODS: From 1991 to 2000, 49 patients were treated for traumatic AVF. Among these patients, seven suffered from popliteal AVF of various durations. The patients were men and ranged in age from 17 to 27 years, with a mean age of 22.4 years. The time from injury to admission to our institutions varied from 5 days to 2 years. A diagnosis of popliteal AVF was made after clinical examinations revealed thrill and bruit over the injury sites. The diagnosis was confirmed in four of the patients after they underwent angiography. Patients with long-standing popliteal AVF underwent cardiology examinations to check for signs of heart failure. All patients with popliteal AVF received surgical treatment. Five patients had major blood vessels reconstructed, one patient had a minor blood vessel ligated, and another patient had a minor blood vessel reconstructed. RESULTS: Five of the seven patients experienced no postoperative difficulties. No serious heart failure occurred; however, there were signs of cardiac overload in three of the five patients. The two remaining patients of the seven underwent leg amputations. However, one of the two patients had a gangrenous foot at admission to our institution, and vascular reconstruction on the other patient was unsuccessful. For all seven patients, the average hospital stay in the vascular surgery department was 16.2 days and the follow-up ranged from 2 to 44 months, with a mean of 21.5 months. CONCLUSION: Trauma of the popliteal space requires special attention, since blood vessel injuries in that zone might result in serious complications. Popliteal traumatic AVFs result in a high rate of leg amputation and long-standing fistulas produce cardiac overload. The presence of thrill and bruit over the injury site should alert the examiner to consider the existence of AVF. Angiography is a reliable diagnostic tool, and should be used in all vitally stable patients. Surgical or nonsurgical closure of AVF will prevent local and systemic complications that might be irreversible in long-standing fistulas.     

Effect of polyamines on mesangial cell ecto-5'-nucleotidase and ecto-ATPase activity

Polyamines were found to modulate the activity of several membrane-bound enzymes, participating in cell growth and differentiation. We have studied the effect of polyamines (spermidine, spermine and putrescine) on rat mesangial cell ectoenzymes: 5'-nucleotidase, Mg(2+)-ATPase and Ca(2+)-ATPase. Ecto-5'-nucleotidase activity was significantly increased after 48 h treatment with spermine and spermidine. Mg(2+)-ATPase was increased only after treatment with spermidine; however, Ca(2+)-ATPase was significantly increased after both spermine and spermidine treatment of mesangial cells. Culture of mesangial cells with putrescine did not change the activity of these ectoenzymes. Increased expression of mesangial cell ecto-ATPase and ecto-5'-nucleotidase after spermine and spermidine treatment could result in an increased production of adenosine, a powerful autacoid interesting with respect to a role of mesangial cells in inflammatory processes.