Objective To report a case of Hutchinson-Gilford progeria syndrome,and to make a molecular genetic diagnosis.Methods Peripheral blood samples were collected from a 12-month-old child with HutchinsonGilford progeria syndrome,his parents,and 150 unrelated healthy controls.DNA was extracted from these samples,and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequence followed by sequencing.Results The patient presented with scleroderma-like tight skin on the trunk,hair loss and prominent scalp veins for 9 months,whose body height and weight were two standard deviations below the mean.Physical examination showed thin skin and prominent superficial veins over the scalp.The skin over the trunk was tight,hard,shiny and dry with a small number of tiny scales,mottled pigmentation and hypopigmentation,induration and hypertrophy giving a cobblestone-like appearance.The subcutaneous fat was diminished on the lower limbs.Skeletal X-ray examination of the left hand revealed phalangeal acroosteolysis.A known heterozygous mutation c.1824C ＞ T (dbSNP:rs58596362) was detected in the exon 11 of the LMNA gene in the proband,but not in his parents or the 150 unrelated healthy controls.Conclusion The mutation c.1824C ＞T in the LMNA gene may be responsible for Hutchinson-Gilford progeria syndrome in this patient.

Compared to conventional cancer treatment, combination therapy based on well-designed nanoscale platforms may offer an opportunity to eliminate tumors and reduce recurrence and metastasis. In this study, we prepared multifunctional microspheres loading I-labeled hollow copper sulfide nanoparticles and paclitaxel (I-HCuSNPs-MS-PTX) for imaging and therapeutics of W256/B breast tumors in rats. F-fluordeoxyglucose (F-FDG) positron emission tomography/computed tomography (PET/CT) imaging detected that the expansion of the tumor volume was delayed (<0.05) following intra-tumoral (i.t.) injection with I-HCuSNPs-MS-PTX plus near-infrared (NIR) irradiation. The immunohistochemical analysis further confirmed the anti-tumor effect. The single photon emission computed tomography (SPECT)/photoacoustic imaging mediated by I-HCuSNPs-MS-PTX demonstrated that microspheres were mainly distributed in the tumors with a relatively low distribution in other organs. Our results revealed that I-HCuSNPs-MS-PTX offered combined photothermal, chemo- and radio-therapies, eliminating tumors at a relatively low dose, as well as allowing SPECT/CT and photoacoustic imaging monitoring of distribution of the injected agents non-invasively. The copper sulfide-loaded microspheres, I-HCuSNPs-MS-PTX, can serve as a versatile theranostic agent in an orthotopic breast cancer model.