RESUMO
We report the first histidine-containing self-assembling tripeptide devoid of capping groups that forms a thermoreversible hydrogel under physiological conditions and catalyses hydrolysis of an ester, providing a minimalist building block for functional soft materials.
RESUMO
A term Caucasian male infant, born to a healthy non-related couple, was noted at birth to have bilateral edema and bluish discoloration of the lower eyelids. On physical examination, the eye globes were not visualized and hypertelorism was noted. Radiological imaging revealed large bilateral orbital cysts, microphthalmos, and severe optic nerve hypoplasia. Histological study of the excised orbital masses showed cysts lined by primitive, immature retinal tissue which contained neuroglial elements and scattered dysplastic rosettes. Chromosome analysis revealed an apparent balanced reciprocal translocation between the long arm of chromosome 3 and 5, i.e. 46, XY, t (3; 5) (q27; q11.2). Chromosome studies in parents were normal. To our knowledge, the association of this balanced translocation and microphthalmos with cyst has not been previously described in the English literature.
Assuntos
Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 5/genética , Coloboma/genética , Cistos/genética , Microftalmia/genética , Nervo Óptico/anormalidades , Doenças Orbitárias/genética , Translocação Genética , Coloboma/diagnóstico , Cistos/diagnóstico , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Microftalmia/diagnóstico , Nervo Óptico/patologia , Doenças Orbitárias/diagnósticoRESUMO
Appropriate referrals reduce healthcare costs and enhance patient satisfaction. We evaluated the subspecialty referral pattern of a managed care general pediatric office over a 4-month period. Three-hundred-forty-six referrals (267 meeting inclusion criteria) to 24 subspecialties were generated during 4,219 office visits, with five subspecialties receiving 59% of the referrals. The main objective of each referral was management (100), diagnostic assistance (75), special procedure (63), or a combination (29). Patients kept less than half of the referral appointments, with the highest (80%) and lowest (28%) compliance rates observed in cardiology and ophthalmology, respectively. Appointments made within four weeks of the referral were more likely to be kept than those with greater lag time (P = 0.001). The subspecialists prepared written, post-consultation responses to the referring physician in 73% of cases. Presumptive and post-consultation diagnoses were congruent in 78% of those cases in which both diagnoses were noted. Overall, the managed care format enabled our practice to track referral outcomes. The subspecialists' written responses also allowed for an educational exchange between physicians. Compliance with referral appointments is a substantial problem that needs to be addressed.
