4 results on '"Torrez DM"'
Search Results
2. Growth hormone therapy improves growth in children with cystic fibrosis related liver disease.
- Author
-
Stalvey MS, Torrez DM, Hillan J, Gonzalez-Peralta RP, Haafiz A, and Rosenbloom AL
- Subjects
- Child, Preschool, Cystic Fibrosis drug therapy, Female, Follow-Up Studies, Growth Disorders etiology, Human Growth Hormone pharmacology, Humans, Infant, Liver Diseases drug therapy, Male, Treatment Outcome, Child Development drug effects, Cystic Fibrosis complications, Growth Disorders drug therapy, Human Growth Hormone therapeutic use, Liver Diseases complications
- Abstract
Growth impairment in cystic fibrosis (CF) is worsened by liver disease. Children with CF have serum levels of insulin-like growth factor-I (IGF-I) that are lower than expected for their normal growth hormone (GH) production. In children with CF-related liver disease (CFLD), response to endogenous GH is further reduced. We present our experience with two young children with CFLD given recombinant human GH (rhGH). The first patient was a 5 year-old female with CFLD and poor growth who responded well for 1 1/2 years to rhGH therapy during her initial course and without a significant increase in serum IGF-I, but with a substantial increase in IGF-I concentration when the GH dose was increased. The second patient was a 5 month-old male with advanced liver disease who had transient improved growth and liver function following rhGH. These patients suggest that rhGH is safe and may be effective in children with CFLD.
- Published
- 2008
- Full Text
- View/download PDF
3. Interpretation of the polysomnogram in children.
- Author
-
Wagner MH and Torrez DM
- Subjects
- Arousal physiology, Carbon Dioxide blood, Cerebral Cortex physiopathology, Child, Diagnosis, Differential, Humans, Nocturnal Myoclonus Syndrome physiopathology, Oxygen blood, Parasomnias physiopathology, Pulmonary Gas Exchange physiology, Seizures physiopathology, Sleep Apnea, Central diagnosis, Sleep Apnea, Central physiopathology, Sleep Apnea, Obstructive physiopathology, Sleep Stages physiology, Nocturnal Myoclonus Syndrome diagnosis, Parasomnias diagnosis, Polysomnography, Seizures diagnosis, Sleep Apnea, Obstructive diagnosis
- Abstract
Polysomnography (PSG) is a useful tool for the diagnosis of sleep disorders in children. This multichannel study obtains information about sleep architecture, respiratory effort, movements during sleep, respiratory events, and gas exchange to facilitate the evaluation of children who have disrupted sleep or suspected SDB. Children should be studied in a sleep laboratory equipped for and staffed with personnel comfortable with and experienced in the performance of PSG in children. The scoring and interpretation of PSG differs in children and adults. The pediatric PSG should be interpreted by a pediatric professional knowledgeable in normal development and sleep disorders in children.
- Published
- 2007
- Full Text
- View/download PDF
4. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.
- Author
-
Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, Johnson D, Abundo GP, Willcockson J, Downs CA, Thompson DA, Musarella MA, Gupta N, Othman MI, Torrez DM, Herman SB, Wong DJ, Higashi M, and Boehnke M
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Chromosomes, Human, Pair 1 genetics, Cytoskeletal Proteins, DNA analysis, DNA Primers chemistry, Female, Genetic Linkage, Genotype, Glaucoma, Open-Angle pathology, Humans, Lod Score, Male, Middle Aged, Pedigree, Point Mutation genetics, Retrospective Studies, Eye Proteins genetics, Glaucoma, Open-Angle genetics, Glycoproteins genetics, Trabecular Meshwork pathology
- Abstract
Objective: This study aimed to update a large kindred with juvenile-onset primary open-angle glaucoma (POAG) first described in 1940 and to identify the underlying genetic cause of the disease., Design: Molecular genetic study of a single kindred, including clinical examination, retrospective review of clinical and family history records, linkage analysis, and mutation screening., Participants: The retrospective review included 957 members of a single large family. The linkage study included 40 members of 1 branch of the family in which juvenile-onset POAG is segregating in an autosomal-dominant pattern. Mutation screening included 15 at-risk family members with juvenile-onset POAG, probands of 40 families with adult-onset POAG, probands of 11 additional unrelated juvenile-onset POAG families, and 43 unrelated normal control subjects., Intervention: Clinical and family history records were obtained, ophthalmologic examinations were performed, and blood samples were drawn for use in genotyping., Main Outcome Measures: Allele sizes of microsatellite repeat genetic markers from the vicinity of the GLC1A glaucoma gene on chromosome 1q were assigned based on size fractionation of DNA fragments generated by polymerase chain reaction (PCR). Linkage was established by the method of lod scores. Mutations were identified by determination of the DNA sequence of PCR products amplified from the trabecular meshwork inducible glucocorticoid response (TIGR) gene. Glaucoma status for purposes of linkage and mutation analysis was based on a combination of ophthalmologic examination, clinical records, family history, and previously published information. For some individuals reported in the pedigree, but not included in the genotyping studies, less information was available as presented in the text and tables., Results: Autosomal-dominant POAG was confirmed or reported for 78 members of an 8-generation family. Linkage analysis showed significant evidence for linkage of juvenile-onset POAG in one branch of the family to D1S452 (maximum lod score of 6.42 at a recombination fraction of 0.00) and other markers in the vicinity of the GLC1A gene on chromosome 1q. Screening of the TIGR gene identified a mutation that results in substitution of asparagine for isoleucine at codon 477 near the carboxyterminal end of the protein., Conclusions: The authors' findings strongly suggest that the juvenile-onset POAG locus in this family is the GLC1A locus and that the underlying cause of the disease is the IIe477Asn TIGR mutation that cosegregates with juvenile-onset POAG in one branch of this large family. Lack of samples from deceased individuals prevented the authors from determining whether reported adult-onset cases in this family could also be attributed to the IIe477Asn TIGR mutation. Absence of the IIe477Asn TIGR mutation from other juvenile- and adult-onset POAG families implies that this TIGR mutation is not a common cause of glaucoma.
- Published
- 1998
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.