RESUMO
BACKGROUND: The risk of neural tube defects (NTDs) is significantly reduced by supplemental folic acid. NTD risk may be associated with impaired absorption of polyglutamyl folate, the primary form of naturally occurring food folate, and of folic acid in supplements or fortified food. Stable-isotope methods provide the specificity needed to test this hypothesis. OBJECTIVE: We determined whether women who had an NTD-affected pregnancy had a reduced ability compared with control women to absorb polyglutamyl folate relative to folic acid. DESIGN: Healthy, nonpregnant women with a history of an NTD-affected pregnancy (cases; n = 11) and control women (n = 11) were administered an oral dose containing a mixture of [(2)H]pteroylpentaglutamate ([(2)H(2)]PteGlu(5); 233 nmol) and [(13)C]pteroylmonoglutamate ([(13)C(5)]PteGlu(1); 567 nmol) after a 30-d saturation protocol (2 mg unlabeled folic acid/d). Relative extents of absorption were evaluated by urinary excretion of (2)H(2)- and (13)C(5)-labeled folates 48 h postdose. RESULTS: During the first 24 h postdose, cases excreted less (f1.gif" BORDER="0"> +/- SD) [(2)H(2)]PteGlu(5) (21 +/- 12% compared with 37 +/- 19%; P = 0.01) and [(13)C(5)]PteGlu(1) (17 +/- 8% compared with 31 +/- 14%; P = 0.007) than did controls. No significant differences between cases and controls were detected in the percentage of [(2)H(2)]PteGlu(5) or [(13)C(5)]PteGlu(1) excreted during the second 24 h postdose or when the data were averaged over 48 h. However, excretion of the [(2)H(2)]folates tended to be lower in cases than in controls over the 48-h period (33 +/- 13% compared with 45 +/- 26%; P = 0.21). A similar trend (P = 0.29) for lower excretion of [(13)C(5)]folates in cases was also observed (31 +/- 16% compared with 39 +/- 17%). The ratio of urinary [(2)H(2)]folates to [(13)C(5)]folates did not differ significantly between cases and controls. CONCLUSION: These data suggest the need for a larger-scale study using stable-isotope methods to further investigate this hypothesis.
Assuntos
Ácido Fólico/farmacocinética , Absorção Intestinal/fisiologia , Defeitos do Tubo Neural/prevenção & controle , Administração Oral , Adulto , Isótopos de Carbono , Estudos de Casos e Controles , Feminino , Ácido Fólico/administração & dosagem , Ácido Fólico/sangue , Humanos , Ácidos Pteroilpoliglutâmicos/farmacocinética , Ácidos Pteroilpoliglutâmicos/urinaRESUMO
OBJECTIVE: This study was undertaken by several members of the University of Florida Craniofacial Center to assess the results of palatoplasty performed by the method devised by Larisa Y. Frolova, M.D. in 1971. DESIGN: The assessment was based on evaluation of each subject's speech and velopharyngeal function through perceptual measures, nasometry, and video-nasendoscopy. SETTING: The study took place at the National Pediatric Center for Congenital Maxillofacial Pathology, Moscow, Russia, under the auspices and with the cooperation of Dr. Frolova, director of the program. SUBJECTS: One hundred twelve children (40 girls and 72 boys; age range, 4 to 10 years; mean age, 7.5 years) with repaired cleft palate who had undergone palatoplasty 2 to 4 years earlier and had no secondary surgery were randomly selected from the center's clinical files by the staff. Subjects with known conditions that could jeopardize normal speech development were excluded. METHODS: Each subject was assessed for speech and velopharyngeal function with a battery of perceptual measures and videonasendoscopy. RESULTS: The percentage of subjects judged to have normal resonance was 55.5%. An additional 9.5% of the subjects judged to be hyponasal increased the rate of nonhypernasal outcome to 64%. CONCLUSIONS: The Furlow double-Z palatoplasty has had an increasing rate of success (up to 87%), whereas the Frolova technique has a success rate of only 55% to 65%.
Assuntos
Palato Mole/fisiopatologia , Faringe/fisiopatologia , Fala/fisiologia , Criança , Pré-Escolar , Fenda Labial/fisiopatologia , Fenda Labial/cirurgia , Fissura Palatina/fisiopatologia , Fissura Palatina/cirurgia , Endoscopia , Feminino , Humanos , Masculino , Métodos , Nariz , Palato Mole/cirurgia , Período Pós-Operatório , Estudos Retrospectivos , Medida da Produção da Fala/métodos , Medida da Produção da Fala/estatística & dados numéricos , Gravação em Vídeo/métodosRESUMO
OBJECTIVE: In this study, researchers evaluated the otologic and audiologic status of 112 children with repaired cleft lip and palate who had received primary palatal repair by means of Frolova palatoplasty, a surgical technique developed by Dr. Larisa Y. Frolova, founder and director of the National Pediatric Center for Congenital Maxillofacial Pathology, Moscow, Russia. DESIGN: Results of hearing thresholds and tympanograms for these Russian children were compared with data previously reported from a group of 48 children and adults with repaired cleft lip and palate at the University of Florida Craniofacial Center, Gainesville, Florida. RESULTS: There were no substantial differences in hearing thresholds between the two groups, which was surprising in view of the vast differences between middle ear management techniques used in Russia and the United States. CONCLUSIONS: Considering these findings and the growing body of literature favoring a more conservative approach to the management of middle ear effusion in infants with cleft lip and palate, a reexamination of otologic strategies in the United States seems advisable.
Assuntos
Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Audição/fisiologia , Testes de Impedância Acústica/métodos , Testes de Impedância Acústica/estatística & dados numéricos , Adolescente , Adulto , Audiometria/métodos , Audiometria/estatística & dados numéricos , Limiar Auditivo , Criança , Pré-Escolar , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Feminino , Transtornos da Audição/diagnóstico , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/diagnóstico , Federação RussaRESUMO
OBJECTIVE: To evaluate the stature of Russian children with cleft lip and palate (CLP). DESIGN: One hundred twelve Russian children predominantly with repaired unilateral CLP 4 through 10 years of age underwent studies including height measurement, physical examinations, and record review. Children with health concerns that could affect growth were excluded. U.S. growth data from the National Center for Health Statistics (NCHS) and Russian parental heights were used in the absence of Russian growth norms. RESULTS: Based on U.S. norms, the distribution curve for heights for the Russian children was largely confined to the +1 to -1 standard deviation (SD) range. Sixty-two percent of the Russian children had heights below the 50th percentile for American female and male children of the same age. The proportion of children found outside the +1 to -1 SD range approximated the proportion expected statistically for the general population, with 14.4% < -1 SD (16th percentile) and 12% > +1 SD (84th percentile). A total of 3.6% of the children ranked below the third percentile, which is close to the expected 3%. Russian parents' (n = 209) mean heights were 0.5 SD below NCHS's 50th percentile values for adults. CONCLUSION: These results indicate that there is no increased risk of true short stature in 4- to 10-year-old Russian children with repaired CLP.
Assuntos
Estatura , Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Feminino , Humanos , Masculino , Exame Físico , Estudos Prospectivos , Federação RussaRESUMO
Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency of deletions in patients presenting with velopharyngeal insufficiency (VPI) is unknown. We performed fluorescence in situ hybridization for locus D22S75 within the 22q11 region on 23 patients with VPI (age range 5-42 years) followed in the Craniofacial Clinic at the University of Florida. The VPI occurred either as a condition of unknown cause (n=16) or as a condition remaining following primary cleft palate surgery (n=7). Six of sixteen patients with VPI of unknown cause and one of seven with VPI following surgery had a deletion in the region. This study documents a high frequency of 22q11 deletions in those presenting with VPI unrelated to overt cleft palate surgery and suggests that deletion testing should be considered in patients with VPI.