Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence to treatment was evaluated by median Phe levels and percentage of results within the therapeutic target range in two periods. Means for total and core scales scores of PedsQL self- and parent proxy-reports of PKU patients were significantly lower than their respective means for controls. Adequacy of median Phe concentrations and the mean percentage of values in the target range fell substantially from the first year of life to the last year of this study. There was no significant difference in mean total and core scale scores for self- and parent proxy-reports between patients with adequate and those with inadequate median Phe concentrations. The harmful consequences for intellectual capacity caused by poor adherence to dietary treatment could explain the observed decrease in all HRQoL scales, especially in school functioning. Healthcare system and financial difficulties may also have influenced negatively all HRQoL dimensions.

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients.

Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence to treatment was evaluated by median Phe levels and percentage of results within the therapeutic target range in two periods. Means for total and core scales scores of PedsQL self- and parent proxy-reports of PKU patients were significantly lower than their respective means for controls. Adequacy of median Phe concentrations and the mean percentage of values in the target range fell substantially from the first year of life to the last year of this study. There was no significant difference in mean total and core scale scores for self- and parent proxy-reports between patients with adequate and those with inadequate median Phe concentrations. The harmful consequences for intellectual capacity caused by poor adherence to dietary treatment could explain the observed decrease in all HRQoL scales, especially in school functioning. Healthcare system and financial difficulties may also have influenced negatively all HRQoL dimensions.

[Congenital hypothyroidism screening: seasonal variations of TSH levels] / Variação sazonal nos níveis deTSH em testes de rastreamento para hipotireoidismo congênito.

OBJECTIVE: To evaluate the seasonal differences in newborn TSH levels. METHOD: A restrospective study was performed using normal blood TSH measurements collected in a neonatal screening program for congenital hypothyroidism, during the extremes of temperature (summer/winter) in order to verify the seasonal influence on that exam. Blood samples were collected from baby feet on filter paper in health care public institutions in Rio de Janeiro city and TSH were analyzed by immunofluorimetric method. For this study we considered samples with TSH levels less then 20 micro U/ml. The factors age, birth weight and prematurity were all observed.RESULTS: We evaluated 388 measurements: 159 in the summer and 229 in the winter. Newborn and infants aged from 2 days to 3 months were included. The time of collection of the exam was significant in the measurement of TSH and the mean levels of TSH collected in the summer were somewhat higher than those collected in the winter (p = 0,0001), when analyzed by the t-test, even so when the age was taken into account. Using F-test (p=0,0234) we observed differences between TSH levels in age groups. TSH levels in the newborn with 2 to 7 days of age differ significantly from those of higher age. Birth weight and prematurity do not show interference with the TSH measurement.CONCLUSIONS: Newborn and infant TSH levels were significantly higher in the summer than in the winter.

A case of biliptysis.

A 76-year-old white woman with ovarian adenocarcinoma developed massive biliptysis following an unexpected respiratory arrest. The possibility of active right upper quadrant disease had not been entertained until she developed this complication of a biliobronchial fistula. Because this sign had not previously been observed by any of us, it led to a comprehensive review of the topic of biliobronchial fistula.

Autologous fibrin adhesive in mandibular reconstruction with particulate cancellous bone and marrow.

Displacement of bone graft particles during their placement, neck flap closure, and insertion of the freeze-dried mandibular crib housing the graft to the glenoid fossa is a commonly encountered problem during major mandibular reconstruction with autogenous particulate cancellous bone and marrow. Autologous fibrin adhesive proved to be a solution as demonstrated in a series of 33 cases. In addition to adhesive and hemostatic properties, it helped the remodeling process begin about 50% earlier by providing the substratum for migration of mesenchymal cells, accelerating revascularization and migration of fibroblasts, stimulating the growth of both fibroblasts and osteoblasts, and slowing the multiplication of microorganisms. Bony incorporation and remodeling were detected radiographically at the fourth postoperative week compared with the eighth week in bone grafts without autologous fibrin adhesive.

Pseudotumoral hepatic tuberculosis. Atypical presentation and comprehensive review of the literature.

We describe a 40-year-old black North American woman with isolated hepatic tuberculosis and an incidentally elevated alkaline phosphatase. Imaging studies of the liver showed a lesion suggesting primary or metastatic disease, which turned out to be the so-called pseudotumoral form of hepatic tuberculosis. We believe this is the first case recorded in the English language literature of isolated hepatic tuberculosis manifesting first as an incidentally elevated alkaline phosphatase. It seems to be the third documented case in the English literature of a patient with this rare form of tuberculous involvement without systemic manifestations. The patient responded to antituberculous therapy and is healthy 4 years after treatment.