Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP. Case presentation We present a 3.2 years old girl referred with a 12 months history of breast and pubic hair development, and vaginal discharge. Hyperphenylalaninemia had been identified by newborn screening and PKU subsequently confirmed by plasma amino acid and genetic analysis. Early dietary control of plasma phenylalanine had been excellent afterwards, resulting in phenylalanine concentrations consistently within the recommended range. Clinical scenario, hormonal assessment and imaging were in keeping with true idiopathic central precocious puberty. Treatment with long lasting gonadotropin-releasing hormone analogue led to regression of secondary sexual characteristics. Conclusion We describe for the first time CPP in a girl affected with PKU but with persistently well controlled blood phenylalanine concentrations. This finding is in contrast to a previous report which suggested persistently high phenylalaninemia levels as potential trigger for CPP in PKU patients. Our report, together with the lack of evidence in published cohort studies of children with PKU, strongly suggests this rare association is coincidental and independent of the presence of severe hyperphenylalaninemia.</p

Textured insoles affect the plantar pressure distribution while elite rowers perform on an indoor rowing machine

Introduction: During rowing, foot positioning on the foot stretcher is critical to optimise muscle force transmission and boat propulsion. Following the beneficial effects of textured insoles on gait and balance, this study aims at investigating whether passive stimulation of foot mechanoreceptors induced by these insoles may contribute to improving foot loading pattern and symmetry during indoor rowing. Methods: Eleven elite rowers were assessed during controlled training on a standard rowing machine while wearing control, low-density or high-density textured insoles. Plantar pressure and knee and trunk kinematics were measured; performance data were recorded from the machine. Insole effect on kinematic parameters, peak and average values of foot force, contact area and position of centre of pressure was assessed with ANOVA and Bonferroni correction for pair-wise comparisons. Results: A main effect was observed for force and contact area, with the high-density insoles providing greatest values (P0.190), even though symmetry was higher with high-density insoles. Kinematics (P = 0.800) and rowing performance were not affected by insole type; a consistent though not statistically significant increase in mean travelled distance was observed for denser insoles (P>0.21). Conclusion: The high-density textured insoles affected foot loading distribution during indoor rowing. Rowers applied greater foot force and over a greater foot stretcher area with the high-density than the low-density and control insoles. These findings and the methodology applied may be relevant for the understanding and monitoring of rowing performance. © 2017 Vieira et al

Analysis of clinical profiles, deformities, and plantar pressure patterns in diabetic foot syndrome

Diabetic foot syndrome refers to heterogeneous clinical and biomechanical profiles, which render predictive models unsatisfactory. A valuable contribution may derive from identification and descriptive analysis of well-defined subgroups of patients. Clinics, biology, function, gait analysis, and plantar pressure variables were assessed in 78 patients with diabetes. In 15 of them, the 3D architecture of the foot bones was characterized by using weight-bearing CT. Patients were grouped by diabetes type (T1, T2), presence (DN) or absence (DNN) of neuropathy, and obesity. Glycated hemoglobin (HbA1c) and plantar lesions were monitored during a 48-month follow-up. Statistical analysis showed significant differences between the groups for at least one clinical (combined neuropathy score, disease duration, HbA1c), biological (age, BMI), functional (joint mobility, foot alignment), or biomechanical (regional peak pressure, pressure-time integral, cadence, velocity) variable. Twelve patients ulcerated during follow-up (22 lesions in total), distributed in all groups but not in the DNN T2 non-obese group. These showed biomechanical alterations, not always occurring at the site of lesion, and HbA1c and neuropathy scores higher than the expected range. Three of them, who also had weight-bearing CT analysis, showed &gt;40% of architecture parameters outside the 95%CI. Appropriate grouping and profiling of patients based on multi-instrumental clinical and biomechanical analysis may help improve prediction modelling and management of diabetic foot syndrome