PubMed Health⌕ Search

Biomedical subjects

D Chitayat

Publications and source records attributed to D Chitayat.

At least 163 records · Page 9Linked to original sources
PubMed1987

Computed tomography of the brain in the Smith-Lemli-Opitz syndrome.

Computed tomographic (CT) scans of the brain in a child with Smith-Lemli-Opitz syndrome revealed enlargement of the ventricular system, hypoplasia of the cerebellum, and abnormal thickening of the gray matter, consistent with pachygyria. These findings have been previously noted in autopsies performed on patients with this disorder. We conclude that CT scanning is a valuable tool in the evaluation of children suspected of having the Smith-Lemli-Opitz syndrome.

Brain↗
PubMed1985

Detection and enumeration of monocytes in human blood with peanut agglutinin.

Binding of peanut agglutinin (PNA) to normal human peripheral blood mononuclear cells was analyzed on a cell sorter, and compared to the binding of the monocyte specific monoclonal antibodies Mac-1 and Leu-M3. Each of the reagents labeled 9-11% of the mononuclear cells and similar binding patterns were observed. Of the PNA+ cells, 67% adhered to plastic petri dishes, whereas 76% of Mac-1+ cells were adherent. No competition for binding was observed between PNA and Mac-1 on the one hand, or PNA and Leu-M3 on the other. In double staining experiments, about 10% of the cells, comprising 80% of the monocytes, were PNA+ Leu-M3+. Our results show that PNA can serve for the identification and enumeration of monocytes in human peripheral blood.

Antibodies, Monoclonal↗
PubMed1985

Peculiar odours in newborns and maternal prenatal ingestion of spicy food.

A peculiar odour in an infant may raise the possibility of several important syndromes. Four cases of newborn infants with peculiar smells are described. In two, the sharp odour was identified as cumin, one smelled of fenu-greek and one of curry. All these babies were born to mothers who ingested spicy food prior to delivery. In one case, the foul smelling amniotic fluid led to a spurious suspicion of amniotitis.

Condiments↗
PubMed1985

Pseudohypoaldosteronism in a female infant and her family: diversity of clinical expression and mode of inheritance.

Pseudohypoaldosteronism was diagnosed in an infant that clinically presented severe failure to thrive and vomiting. Evaluation of her extended family revealed many other affected family members with a vast range of clinical expression. The mode of inheritance is most likely autosomal dominant. Salt supplementation during infancy was effective in restoring normal growth, weight gain and serum electrolytes.

Adult↗
PubMedDate not supplied

Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome.

Rhabdomyosarcoma (RMS) is a soft tissue tumor of childhood frequently diagnosed between the first and fifth year of life. Children with the Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth syndrome characterized by exomphalos, macroglossia, and macrosomia, have an increased risk of developing childhood tumors including Wilms tumor, hepatoblastoma, neuroblastoma, and RMS. Although an association between RMS and the BWS is well accepted, only four cases have been reported to date, and of these, three were reported as embryonal RMS. Based on these data, an association between BWS and embryonal RMS has been proposed. We report three additional cases of BWS with RMS and review the clinical data for each patient as well as the pathology of their tumors. All three cases of BWS had histology consistent with alveolar RMS and were diagnosed at 6 weeks and 5 and 13 years of age. In two of these BWS cases, constitutional defects of 11p15 imprinting were demonstrated. Furthermore, cytogenetic analysis of the tumors did not detect the t(2;13) or t(1;13) translocations that generate the PAX3- or PAX7-FKHR fusion proteins common to alveolar RMS. These observations suggest that the development of alveolar RMS tumors in BWS may occur without the chromosomal rearrangement producing the PAX-FKHR fusion protein. In summary, we present three new cases of RMS demonstrating a new association between BWS and an uncommon subtype of alveolar RMS. The absence of the translocations commonly associated with alveolar rhabdomyosarcoma suggests a common 11p15 pathway for alveolar RMS and BWS.

Adolescent↗
PubMedDate not supplied

Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome.

Two male fetuses (18 and 22 weeks gestation) and a 3-month-old male infant (full sibling of the younger fetus) who were diagnosed with Walker-Warburg syndrome (WWS) on the basis of neuropathologic autopsy findings in brain, eyes, and muscle also had micro-orchia and, microscopically, diffuse gonadoblastoid dysplasia in the testes. Both fetuses also had a miniature left ureter and cystic dysplastic left kidney. Testes from control fetuses of 17-24 weeks gestation with normal karyotype and no central nervous system abnormalities (group A, n = 50), a variety of central nervous system abnormalities (group B, n = 50), or an autosomal aneuploidy syndrome with or without central nervous system abnormalities (group C, n = 30) had no diffuse dysplasia, although a single gonadoblastoid seminiferous tubular profile was present in three controls. Testicular morphology was normal in older fetuses and infants with a wide variety of central nervous system malformations (group D, n = 50). We found no evidence of hypogonadotrophic hypogonadism in the three WWS cases to account for the small penis and incompletely descended testes commonly reported in this condition. We concluded that the apparent specificity of the gonadoblastoid testicular dysplasia to WWS suggests that the gene defect directly affects testicular development.

Abnormalities, Multiple↗
PubMedDate not supplied

Tibial hemimelia and tetralogy of Fallot associated with first trimester exposure to amantadine.

Although amantadine hydrochloride has been extensively used for the prevention of influenza A2, few data exist regarding its safety in pregnancy. We report the outcome of a pregnancy during which the mother was treated with amantadine in the first trimester. The infant, born at 29 weeks gestation, has tetralogy of Fallot and tibial hemimelia. Follow-up of the four prospective cases known to date to the Motherisk Program in Toronto did not identify any abnormalities.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

A co-twin fetus papyraceus as a cause of elevated AFP and acetylcholinesterase in the amniotic fluid of the normal co-twin.

An elevated amniotic fluid alpha-fetoprotein (AF-AFP) level together with a positive acetylcholinesterase (AChE) band is strongly predictive of neural tube defect (NTD) in the fetus. We report such results in a pregnancy in which the fetus was found to be normal after termination. Among the placental fragments was found a sac containing a prenatally undetected co-twin fetus papyraceus. We suggest that pregnant women with such laboratory results but lacking sonographic evidence of NTD should have a high-level untrasonographic investigation, as well as a thorough pathologic examination of both placenta and fetus in cases of termination.

Acetylcholinesterase↗