Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study

BACKGROUND: It has been previously postulated that high phenylalanine (Phe) might disturb intracerebral dopamine production, which is the main regulator of prolactin secretion in the pituitary gland. Previously, various associations between Phe and hyperprolactinemia were revealed in studies performed in phenylketonuria (PKU) children and adolescents. The aim of the present study was to clarify whether any relation between serum phenylalanine and prolactin levels can be found in adult PKU patients. PATIENTS AND METHODS: We conducted a cross-sectional, monocentric study including 158 adult patients (male n = 68, female n = 90) with PKU. All patients were diagnosed during newborn screening and were treated since birth. Serum Phe, tyrosine (Tyr), prolactin (PRL), and thyroid-stimulating hormone (TSH) levels were measured, and Phe/Tyr ratio was calculated. Males and females were analyzed separately because the serum prolactin level is gender-dependent. RESULTS: No significant correlations were found between serum phenylalanine, tyrosine, or the Phe/Tyr ratio and serum prolactin level either in the male or in the female group. CONCLUSIONS: In treated adult PKU patients, the serum prolactin level may not be significantly influenced by Phe or Tyr serum levels

S100B concentration in colostrums of Burkinabe and Sicilian women

The aim of this study is to determine the S100B concentration in colostrums of 51 Burkinabe and 30 Sicilian women, still living in their countries, and in case of a difference to search for its explanations, considering also ethnic differences

Erythrocyte membrane acetylcholinesterase, Na+,K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia

Background: Classical galactosaemia is commonly presented by high blood galactose ( Gal) and galactose-1-phosphate (Gal-1-P) levels followed by mental retardation, seizures, etc. dependent on the mutation of the patients. Aim: To evaluate Gal and Gal-1-P in the blood of patients and to correlate their levels with their erythrocyte membrane acetylcholinesterase (AChE), Na+, K+- ATPase and Mg2+-ATPase activities. Methods: Blood was obtained from nine patients on poor diet ( group B) followed by a 30-d strict diet ( group A) and controls ( group C) in order to evaluate Gal and Gal-1-P in Guthrie cards and to correlate their concentrations with the above enzyme activities, which were measured spectrophotometrically. Results: With the patients on a “loose” diet, AChE, Na+, K+-ATPase and Mg2+- ATPase activities were found to be decreased, as compared with those on strict diet and controls. Significantly ( p<0.01) inverse correlation coefficients of the enzyme activities were found with Gal-1-P levels. Conclusion: ( a) AChE, Na+, K+- ATPase and Mg2+- ATPase activities were determined to be decreased in poorly controlled patients with classical galactosaemia. (b) The enzyme activities were inversely correlated with the Gal-1-P blood levels. ( c) Since Na+, K+- ATPase in the erythrocyte membranes is the isomer of Na+, K+- ATPase distributed in many tissues and in the brain, evaluation of the enzyme activity in the erythrocytes could be a useful peripheral marker of Gal-1-P toxicity

8-Hydroxy-2-desoxyguanosine serum concentrations as a marker of DNA damage in patients with classical galactosaemia

Background: Classical galactosaemia is caused by a deficiency of galactose-1-phosphate uridyl transferase, resulting in high galactose (Ga1), galactose-1-phosphate (Gal-1-P) and galactitol blood levels. Galactose/lactose restriction intake is the only treatment. 8-hydroxy-2-desoxyguanosine (8-OHdG) is a marker of oxidized DNA damage. Aim: Since galactosaemia outcome is closely related to restriction of Gal intake, we aimed to evaluate correlations between Gal-1-P, total antioxidant status (TAS) and 8-OHdG blood levels in galactosaemic patients on poor or strict diet. Methods: Venous blood samples were obtained from galactosaemic patients (n = 11) on poor diet (group A) and after 30 d on strict diet (group B). Twenty-eight healthy children were the controls. Gal-1-P and TAS were evaluated in their blood spectrophotometrically and 8-OHdG with an immunoassay. Results: TAS was significantly decreased (905 +/- 112 mu mol/l) in patients on a “loose diet” (group A) as compared to those when restored to their diet (group B) (1340 +/- 112 mu mol/l, p < 0.001) and controls (1558 +/- 115 mu mol/l, p < 0.001). As expected, Gal-1-P levels were remarkably increased in group A. 8-OHdG level was twofold higher (0.259/0.03 ng/ml) in group A than that of group B (0.11 +/- 0.04 ng/ml) and threefold higher than that of the controls (0.089/0.02 ng/ml). TAS and Gal-1-P inversely correlated to 8-OHdG (r = -0.802, p < 0.001), whereas Gal-1-P positively correlated to 8-OHdG (r = 0.820, p < 0.001) in all the groups. Conclusion: a) Low TAS and high Gal-1-P levels are implicated with high 8-OHdG blood levels in galactosaemic patients; b) 8-OHdG may be a sensitive biomarker of DNA damage in patients with classical galactosaemia

Effects of isotretinoin therapy on lipoprotein (a) serum levels

Background Increases in plasma concentrations of lipids, triglycerides, and liver enzymes have been reported in patients on isotretinoin therapy. Lipoprotein (a). (Lp (a)), a cholesterol-rich plasma lipoprotein, influences the clotting system and is related to premature coronary heart disease and stroke. Methods Blood (7 mt) was obtained from 30 patients with cystic acne before and 30 days after the initiation of oral isotretinoin (0.5 mg/kg/day). Results An increase in liver enzymes and lipids, except high density lipoprotein, was found in our patients at the end of the study. The mean Lp (a) levels (initial value, 25.91+/-3.17 mg/dl) were statistically reduced (p < 0.0001) at the end of treatment (14.80+/-2.35 mg/dL). Conclusions It is suggested that isotretinoin could be used as an Lp (a) lowering agent in the future