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Biomedical subjects

D Chitayat

Publications and source records attributed to D Chitayat.

At least 127 records · Page 7Linked to original sources
PubMed1992

Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination.

Four patients with classical maple syrup urine disease were treated for up to 5885 days per patient with a relaxed protocol allowing branched-chain amino acid levels in plasma to rise about 5 times the normal mean value. The patients have had satisfactory development and lifestyle. They spent 318 days in hospital during 19,937 aggregate treatment days. Plasma levels of leucine and the corresponding 2-oxo acid were shown to be elevated disproportionately relative to the other branched-chain metabolites. Levels of isoleucine and valine were lower than those of leucine apparently because of runout into alternative metabolite pools, namely the R metabolites for isoleucine and the hydroxyacid for valine. The chronic accumulation of branched-chain 2-oxo acid(s) in our patients was associated with chronic dysmyelinating changes in CNS visible by imaging. Another patient with a thiamine-responsive variant of maple syrup urine disease had five acute crises incurring 29 days in hospital in a total of 6910 treatment days. However, she did not have chronic metabolic dyshomeostasis (her average plasma amino acid values were normal) and she had no evidence of dysmyelination. A relaxed treatment protocol for patients with maple syrup urine disease may benefit them in quality of life, but it apparently exacts a cost in metabolic control and CNS pathology.

Adolescent↗
PubMed1992

Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.

Monozygotic male twins born to nonconsanguineous parents had dysmorphic facial features, microcephaly, migrational brain disorder, and congenital intracerebral calcification. They excreted excessive amounts of 3-hydroxyisobutyric acid, a metabolite of valine, and had evidence of impaired oxidative metabolism and metabolic acidosis. The level of 3-hydroxyisobutyrate in stored samples of midtrimester amniotic fluid was found to be high. The association of 3-hydroxyisobutyric aciduria with brain dysgenesis is a newly recognized mendelian disorder; its recurrence in a family at risk is potentially avoidable by prenatal diagnosis.

Amniotic Fluid↗
PubMed1991

Mucolipidosis type IV: clinical manifestations and natural history.

The clinical manifestations and psychomotor development of five patients with mucolipidosis IV (MLIV) from three Ashkenazi-Jewish families are reported. The presenting symptoms were hypotonia, developmental delay, corneal clouding, and puffy eyelids. Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLIV.

Adolescent↗
PubMed1991

Syndrome of mental retardation and distal arthrogryposis in sibs.

Two sisters presented with a syndrome of characteristic facial anomalies and distal arthrogryposis. The older sister is now 4 years old and is severely mentally retarded. Her sister died of respiratory failure due to hypoplastic lungs shortly after birth. The occurrence of this potentially lethal syndrome in 2 sisters with unaffected parents suggests autosomal recessive inheritance.

Arthrogryposis↗
PubMed1991

Robin sequence with facial and digital anomalies in two half-brothers by the same mother.

Two half-brothers by the same mother presented with the Robin sequence and facial and digital anomalies. The mother has a normal face and mild hyperopia without abnormality on radiographs of the hands, feet, and pelvis. The older son is 4 years and the younger is 6 months old. Both have normal psychomotor development. To the best of our knowledge this familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome. The occurrence of the syndrome in 2 half-brothers by the same unaffected mother suggests X-linked recessive inheritance.

Child, Preschool↗
PubMed1991

Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment.

We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23----q27. Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds, strabismus, depressed nasal bridge, long philtrum, small mouth, tetralogy of Fallot, and sacral dimple. Her phenotype is compared with that of previously reported cases of duplication 4q. An increased activity of the enzyme aspartylglucosaminidase (AGA) in cultured fibroblasts was demonstrated. This suggests possible assignment of the AGA gene to the chromosomal segment 4q23----4q27.

Aspartylglucosylaminase↗
PubMed1991

Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome?

A term newborn male with severe hypotonia and contractures was found to have dense bilateral cataracts. He died at age 3 days of respiratory failure. Amino acidopathies and disorders of peroxisome function were excluded, and results of serologic studies and placental histopathology, specifically seeking evidence of intrauterine infection, were normal. Autopsy showed changes in the skeletal muscles consistent with congenital muscular dystrophy and a small focal anomaly of the cerebral cortex. These findings either represent a new syndrome or raise further questions about broadening the spectrum of known congenital muscular dystrophy syndromes with associated eye and brain anomalies.

Brain↗
PubMed1991

Optimal positioning of endotracheal tubes for ventilation of preterm infants.

Accurate knowledge of upper-airway dimensions is required to prevent malpositioning of endotracheal tubes in preterm infants. We measured vocal cord-carina, oral-carina, and nasal-carina distances in situ at autopsy of two groups of infants (less than 1000 and greater than or equal to 1000 g). In all 24 infants, crown-heel length, crown-rump length, and occipitofrontal circumference were better than weight in predicting upper-airway dimensions. Flexion of the neck decreased and extension increased both nasal-carina and oral-carina distances. Lateral rotation produced no significant changes. The postmortem data were not different from nasal-carina distances measured radiologically in 40 living, nasally intubated and ventilated infants, confirming the clinical validity of our findings. Regression equations were derived to predict optimal endotracheal tube lengths based on the external measurements of crown-rump length and crown-heel length.

Body Height↗
PubMed1990

Midfacial hypoplasia associated with long-term intubation for bronchopulmonary dysplasia.

Six preterm infants with bronchopulmonary dysplasia were nasotracheally intubated for 68 to 243 days. Gestational age at birth ranged from 24 to 35 weeks. Endotracheal tube size was changed to account for growth and varied from 2.5 to 4.0 mm. These infants developed features of midfacial hypoplasia, namely, depressed nasal bridge, small-tipped nose, long philtrum, underdeveloped malar areas, and carplike mouth. These features have not been associated with long-term intubation in premature infants. We suggest that features of prolonged nasotracheal intubation, such as direct compression by the tube and the method of tube fixation, decreased air flow through the developing nares and sinuses and reduced faciomuscular activity, resulting in the observed midfacial hypoplasia. The degree to which growth corrects these deformations is unknown.

Bronchopulmonary Dysplasia↗
PubMed1990

Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome?

We report on two brothers with renal hypophosphatemia, intracerebral calcifications, minor facial anomalies, and short distal phalanges. The children presented with recurrent dental abscesses; one had premature closure of the anterior fontanelle. Biochemical findings included hypophosphatemia and elevated serum alkaline phosphatase with normocalcemia. Blood levels of parathyroid hormone, 1,25(OH)2 and 25(OH) vitamin D levels were normal; TRP (the fractional tubular reabsorption of PO4) and TmP/GFR (the tubular maximum rate of PO4 reabsorption in relation to GFR) were low. Both parents had a normal serum phosphate and brain CT scan without evidence of calcifications. This apparently new syndrome of renal hypophosphatemia associated with intracerebral calcifications appears to be inherited as either an autosomal recessive or an X-linked trait.

Brain↗
PubMed1990

Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.

We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectodermal disorder appears to be a nonspecific manifestation of chromosome mosaicism.

Chromosomes, Human, Pair 18↗
PubMed1990

Neuroblastoma in a child with Wiedemann-Beckwith syndrome.

We report on a patient with Wiedemann-Beckwith syndrome (WBS) who developed abdominal neuroblastoma. Although WBS patients are known to have a higher incidence of embryonal tumors, this is only the 4th known case of neuroblastoma associated with this syndrome. Chromosomes on peripheral lymphocytes and tumor cells were normal. Children with WBS should be screened for a variety of embryonal neoplasms, not only Wilms tumor.

Abdominal Neoplasms↗
PubMed1990

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome.

We report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann-Beckwith syndrome (WBS). Both had hypoglycemia neonatally and gradually developed coarse facial changes, umbilical hernia, and macroglossia. Renal sonography done after the macroglossia developed showed large kidneys in both. The placentas were carefully examined in both cases but findings described as typical of WBS were only found in one. The clinical evolution of these infants suggests that some WBS manifestations may have their onset postnatally in some cases. We postulate that the cellular hyperplasia and hypertrophy characteristic of WBS may be caused by persistent rests of embryonal cells that secrete paracrine and/or endocrine growth factors.

Beckwith-Wiedemann Syndrome↗
PubMed1990

Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.

A brother and a sister presented with a malformation syndrome consisting of facial anomalies, distal arthrogryposis with camptodactyly of fingers and "hammer toes," severe mental retardation, and hypopituitarism. The girl is now 6 1/2 years old and exhibits severe mental retardation. She has abnormal secretion of growth hormone and responded to growth hormone therapy. Her brother was born with the same facial manifestations, distal contractures, and hypopituitarism. He died unexpectedly at age 3 months of no apparent cause. The occurrence of the syndrome in 2 sibs of different sex suggests autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1990

Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome?

We report on a girl with Robinow syndrome and pulmonary atresia with ventricular septal defect (VSD). Seven cases of Robinow syndrome with congenital heart defect (CHD) have now been described, 5 of whom had stenosis or atresia of the pulmonic valve. This suggests that CHD, especially right ventricular outlow obstruction, may be a component manifestation of this syndrome in some cases. Since early recognition of this type of heart lesion can minimize morbidity by facilitating optimal surgical therapy, thorough cardiac evaluation of all patients with Robinow syndrome seems warranted.

Abnormalities, Multiple↗
PubMed1990

Detection and enumeration of colonic mucosal cells in amniotic fluid using a colon epithelial-specific monoclonal antibody.

Since its introduction, prenatal diagnosis of chromosomal and metabolic disorder by midtrimester amniocentesis has relied upon the use of a mixture of fetal cells obtained from amniotic fluid. Little knowledge has been gained in the sorting of these cells for diagnosis of tissue-specific disorders. In an attempt to determine the contribution of fetal colonic mucosal cells to the overall amniocyte population, we used the colonic epithelial-specific monoclonal antibody (MC-Ab) 7E12H12, IgM isotype. Specimens of the small intestine, colon, buccal mucosa, kidney, urinary bladder, and umbilical cord were obtained from electively aborted normal fetuses of 12-28 weeks' gestation. All of these specimens were examined with 7E12H12 by the immunoperoxidase technique. The MC-Ab reacted with the colonic epithelial cells but not with any of the other tissues. In addition, 40 amniotic fluid samples obtained from women between 16 and 18 weeks of gestation, who underwent amniocentesis because of advanced maternal age, were tested using a fluorescent activated cell sorter. Among the amniotic fluid specimens examined, 18.4 +/- 10.3 per cent cells reacted with 7E12H12. Double immunofluorescence studies revealed that all Mc-Ab-stained cells contained secretory component, confirming that they were epithelial in origin. All fetuses whose amniotic fluid was analysed had normal karyotypes and amniotic fluid alpha-fetoprotein levels that were also normal. This study demonstrates that cell-specific Mc-Ab can be used to detect colon cells in the amniotic fluid and that colon cells contribute significant numbers in the mixture of amniotic fluid cells.(ABSTRACT TRUNCATED AT 250 WORDS)

Amniotic Fluid↗
PubMed1989

Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.

We describe a 16-month-old girl with Joubert's syndrome (JS), congenital ocular fibrosis, and histidinemia. Abnormal respiration, ptosis, and minimal eye movements were observed in the neonatal period. Intraoperative examination of the eyes later demonstrated severely restricted eye movements and abnormal insertions and fibrosis of the extraocular muscles. Computed tomography of the head revealed absence of the corpus callosum and brain stem. Histidine levels were elevated in the blood, urine, and cerebrospinal fluid. The patient was ataxic and developmentally delayed. To our knowledge, the association of JS with congenital ocular fibrosis has not previously been described. This report indicates that jerky eye movements are not an invariable finding in JS.

Ataxia↗