Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

Congenital unilateral overgrowth of the upper extremity affecting only the muscle tissue is rare. We describe on the clinical, histopathological, and neuroimaging findings in a 6-year-old girl with a congenital, non-progressive muscle enlargement of the entire left upper limb with an ipsilateral hand deformity. No cutaneous stigmata or additional features were detected. Sanger sequencing for the AKT1, PIK3CA, and PTEN genes identified an activating c.3140A>G, p.H1047R mutation in the PIK3CA gene from the affected muscle DNA. We demonstrate that isolated congenital muscular upper limb overgrowth with aberrant hand muscles is another condition related genetically to the PIK3CA-related overgrowth spectrum.

[Intrarenal arterial doppler ultrasonography in cirrhotic patients with ascites, with and without hepatorenal syndrome]. / Ecotomografía Doppler arterial intrarrenal en pacientes cirróticos con ascitis, con y sin síndrome hepatorrenal.

BACKGROUND: The pathophysiological hallmark of the hepatorenal syndrome (HRS) is renal vasoconstriction. Doppler ultrasonography can be used to assess the vascular resistance in small renal intraparenchymal vessels through analysis of the Doppler waveform by a parameter termed Resistive Index (RI). We postulated that the RI could be important for the diagnosis and prognosis of HRS. AIMS: To assess the RI in cirrhotic patients with ascites, with and without HRS. PATIENTS AND METHODS: We studied 48 cirrhotics with ascites, of whom 12 were with and 36 without HRS and other 23 were normal subjects. We measured the intrarenal arterial RI (Resistive index = Peak systolic velocity - Minimum diastolic velocity/Peak systolic velocity) with color Doppler ultrasonography after visualization of interlobular or arcuate arteries. It was considered abnormal when higher than 0.70. RESULTS: The RI values, mean and SD) were: normal subjects: 0.58 +/- 0.05, cirrhotics with ascites: 0.65 +/- 0.05 and cirrhotics with ascites and HRS: 0.78 +/- 0.11. Patients with HRS had significantly higher values than those without HRS (p < 0.001). The Relative Risk of developing the HRS in patients with a RI > or = 0.70 were 3.32 (CI 95% = 1.79-6.2) CONCLUSIONS: The RI was useful in patients with cirrhosis and ascites for the prognosis of HRS and could suggest diagnosis of HRS with values of 0.78 or higher, if other clinical conditions that produce renal vasoconstriction are excluded.