RESUMEN
Protein phosphatase 1 catalytic subunit beta (PPP1CB) is a disease-causing gene of Noonan-like syndrome, which acts via the RAS/MAPK pathway. To date, only 17 patients diagnosed with PPP1CB-related Noonan-like syndrome have been reported around the world, with few reports in Asia. Twelve reported patients are of short stature and only one patient was treated with growth hormone (GH); however, follow-up data is lacking. To the best of our knowledge, this is the first reported patient with complete recombinant human growth hormone (rhGH) treatment follow-up data; the patient has a de novo c.146C>G (p.Pro49Arg) mutation in the PPP1CB gene. The hair pattern of the patient (coarse, curly, slow growing, and fragile) combined with Noonan dysmorphic features, developmental delay, and congenital heart disease, are highly consistent with the typical features observed in Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2). rhGH treatment, administered for 3 years and 8 months, promoted the patient's linear growth. Our findings expand the data regarding the treatment of short stature in patients with NSLH2 caused by PPP1CB mutation. Clinical manifestation, growth and development process, and rhGH therapy effect data will aid in future revision of the relevant diagnosis and treatment guidelines.
Asunto(s)
Hormona de Crecimiento Humana/administración & dosificación , Síndrome del Cabello Anágeno Suelto/tratamiento farmacológico , Síndrome de Noonan/tratamiento farmacológico , Proteína Fosfatasa 1/genética , Adulto , Niño , Preescolar , Femenino , Predisposición Genética a la Enfermedad , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/tratamiento farmacológico , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/patología , Humanos , Síndrome del Cabello Anágeno Suelto/complicaciones , Síndrome del Cabello Anágeno Suelto/genética , Síndrome del Cabello Anágeno Suelto/patología , Masculino , Síndrome de Noonan/complicaciones , Síndrome de Noonan/genética , Síndrome de Noonan/patología , FenotipoRESUMEN
The enzyme-assisted extraction (EAE) of polysaccharides from the fruits of Hericium erinaceus was studied. In this study, response surface methodology and the Box-Behnken design based on single-factor and orthogonal experiments were applied to optimize the EAE conditions. The optimal extraction conditions were as follows: a pH of 5.71, a temperature of 52.03°C and a time of 33.79 min. The optimal extraction conditions resulted in the highest H. erinaceus polysaccharides (HEP) yield, with a value 13.46 ± 0.37%, which represented an increase of 67.72% compared to hot water extraction (HWE). The polysaccharides were characterized by FT-IR, SEM, CD, AFM, and GC. The results showed that HEP was composed of mannose, glucose, xylose, and galactose in a molar ratio of 15.16:5.55:4.21:1. The functional groups of the H. erinaceus polysaccharides extracted by HWE and EAE were fundamentally identical but had apparent conformational changes.