Biomedical subjects

Erawati V Bawle

Publications and source records attributed to Erawati V Bawle.

5 recordsLinked to original sources

PubMed2006

Growth spurt hypocalcemia.

This is a clinical presentation of a healthy 12-year-old African-American male who had symptomatic hypocalcemia during a growth spurt that resolved after reaching a stable height. He had clinical findings consistent with Pseudohypoparathyroidism (PHP) with hypocalcemia, hyperphospatemia, and increased parathyroid hormone (PTH) concentration. We hypothesize that his family might have a hitherto unreported autosomal dominant PHP-Ib that may or may not be linked to the GNAS locus.

Body Height↗

PubMed2005

Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption?

This study examined memory functioning in children and adolescents with 22q11.2 Deletion Syndrome (DS; velocardiofacial syndrome). An overall verbal better than nonverbal memory pattern was evident on the Test of Memory and Learning (TOMAL), with children with 22q11.2 DS performing significantly below their siblings and children with low average IQ but similar to children with autism on facial memory. Children with 22q11 DS also performed significantly below their siblings on tests of verbal working memory. Children with autism performed significantly poorer than the siblings of children with 22q11.2 DS only on their recall of stories. Delayed recall was significantly poorer in children with 22q11.2 DS and children with autism, compared to sibling controls. Although there were no significant group differences on tests of multiple trial verbal or visual learning, a relative weakness was noted with multiple trial visual learning in children with 22q11.2 DS and their siblings, suggesting that an alternative or interactive factor other than the deletion may account for the relatively better verbal compared to nonverbal memory abilities. Deficits in facial memory in children with both 22q11.2 DS and autism suggest disruptions in ventral temporal pathways such as between fusiform gyrus and parahippocampal/hippocampal regions whereas deficits in verbal working memory in children with 22q11.2 DS implicates dorsolateral prefrontal regions, both intimating aberrant white matter pathways.

Adolescent↗

PubMed2004

Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.

Ring chromosomes are thought to be the result of breakage in both arms of a chromosome, with fusion of the points of fracture and loss of the distal fragments. Another mechanism of ring formation is believed to be the simple fusion of chromosome ends with preservation of telomeric and subtelomeric sequences. Ring chromosome 13 was first described in 1968 and its incidence estimated at 1 in 58,000 live births. Severe phenotypes associated with large deletions of 13q have been described as "ring chromosome 13 syndrome." Features of the "ring chromosome 13 syndrome" include mental retardation (often severe), growth retardation, microcephaly, facial dysmorphism, and hand, foot or toe abnormalities. We report on a case of a mother and daughter with r(13) and mild phenotypes. Our patient, IA, had chromosome analysis performed at about 4(1/2) years of age due to some developmental delay. This revealed 46,XX, r(13)(p13q34) karyotype with no loss of any chromosomal band. Her mother, EA, was subsequently found to have the same ring 13. IA's maternal grandmother had a normal karyotype while her maternal grandfather was unavailable for testing. Fluorescence in situ hybridization (FISH) analysis showed loss of a specific subtelomeric 13q region in r(13) in the mother. Clinically, IA had macular hyperpigmentation on the chin and mild delay in speech and fine motor skills. EA, 22 years of age, had mild short stature and borderline mental retardation. To our knowledge, this is the first report of a case of familial transmission of r(13). We compare phenotypes of our cases with those from other reported cases of r(13) and discuss the possible mechanism of formation of this ring chromosome.

Black or African American↗

PubMed2003

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.

A 3-year-old child with microcephaly, facial dysmorphism, growth retardation, and developmental delay was diagnosed with medulloblastoma. Craniospinal irradiation resulted in severe radiation-induced dermatitis and gastroesophagitis, unresponsive to further medical therapy. Colony survival assay on the patient's transformed lymphocytes revealed a high degree of radiosensitivity ex vivo. The presence of radiation sensitivity, both clinically and ex vivo, in association with microcephaly and growth retardation, prompted a diagnostic workup for Nijmegen breakage syndrome. The patient was confirmed to have a compound heterozygote genotype for the common founder mutation of NBS1 675del5 in exon 6, and 1142delC in exon 10. Because irradiation is an important component of therapy for brain tumors, caution should be exercised in cancer patients with associated microcephaly and growth retardation, as they may turn out to have the rare diagnosis of Nijmegen breakage syndrome.

Cerebellar Neoplasms↗

PubMed2002

Evaluation of surgical intervention in familial isolated simple ectopia lentis: younger v. older generations.

BACKGROUND: There continues to be a debate whether surgical management of ectopia lentis in children is an appropriate course to improve visual acuity and prevent further amblyopia over medical and optical management. The long term outcome and postoperative status of three generations of patients in a single family with simple ectopia lentis is presented. SUBJECTS: Nine family members (ages 6-61 years) were evaluated at Children's Hospital of Michigan (CHM) (6 patients) and Kresge Eye Institute (KEI) (3 patients) for primary or secondary visual acuity problems and a family history of simple bilateral ectopia lentis without any systemic manifestations. RESULTS: Three of the four children with ectopia lentis had improved postoperative vision OU and one child was moderately amblyopic following lensectomy with 6 years followup. Of the older generation, one of the three adults had removal of dislocated lenses, with 20/50 amblyopia in one eye and 20/25 vision in the other. The other two adults were treated for end stage glaucoma with poor visual acuity. CONCLUSIONS: For the younger generations of this family, surgical intervention for simple ectopia lentis provided improvement in visual acuity. Without surgery, amblyopia may have occurred in one or both eyes. For the oldest generation of this family, glaucoma and poor vision was the end result. Hopefully, the earlier treatment of the ectopia lentis in these children will result in better vision now and in the long term.

Adolescent↗