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Biomedical subjects

B Bliss

Publications and source records attributed to B Bliss.

8 recordsLinked to original sources

Long-term sequelae of hearing impairment in congenital hypothyroidism.

Hearing loss and its functional consequences were evaluated retrospectively in children with congenital hypothyroidism. From a cohort of 101 children followed longitudinally to evaluate newborn screening, 75 with previous hearing tests were studied. Fifteen (20%) were found to have hearing problems. Of these, nine had unilateral or sensorineural loss mostly at high frequencies, five had a conductive loss, and one had both problems. Hearing impaired children differed from children with normal hearing in age of treatment onset (22 vs 14 days) but not disease severity or duration. A comparison of language and auditory processing skills at ages 3, 5, and 7 years revealed that early speech was delayed in hearing impaired children, whereas deficits persisted in later receptive language and auditory discrimination skills. Comparing hearing impaired children and children with normal hearing with matched control subjects at grade 3 showed that hearing impaired children were poorer readers because of less adequate phonologic processing skills.

Child↗

Ototoxicity of carboplatin: comparing animal and clinical models at the Hospital for Sick Children.

Carboplatin was introduced to the paediatric population as an alternative chemotherapeutic agent in the management of various malignant neoplasms, including sarcomas of the head and neck, in the hope that it would have fewer side effects than pre-existing agents. While many investigators have considered the ototoxicity of this drug only incidentally, others have presumed it to be of negligible importance. A recent animal model of its use has demonstrated damage to the inner hair cells of the cochlea, particularly at the basal turn, with a corresponding high incidence of hearing loss. Similarly, 11 of 22 patients who received this agent at the Hospital for Sick Children over the past 2 years demonstrated a sensorineural hearing loss in the 4 to 12 kHz range. This complication occurred as early as after the first dose and was generally progressively worse with subsequent doses. Consequently, we recommend careful audiologic monitoring of children receiving this agent.

Adolescent↗

Characteristics of a DNA probe (pa3'HVR) when used for paternity testing.

DNA probes that detect polymorphic loci in the human genome are finding widespread application in many areas of genetic testing. Paternity testing represents one area for the application of probe technology; this report presents data obtained in a paternity testing program with a probe (pa3'HVR) derived from a locus (D16S85) approximately 8 kilobases (kb) downstream from the alpha globin gene complex on chromosome 16. The pa3'HVR probe used under stringent conditions of hybridization detects a highly polymorphic locus in chromosomal DNA digested with Pvu 2 restriction endonuclease. Alleles at the D16S85 locus were grouped into 58 size bins differing from one another by 100 base pairs in the black and white populations. The most common alleles detected in whites fell into the 2.3-kb group with a collective frequency of 0.1849. In blacks, the most common allele group is 2.0 kb with a collective frequency of 0.1333. The probe was used for restriction fragment length polymorphism mapping in conjunction with standard paternity testing techniques in 100 paternity cases. Thirty direct exclusions were encountered in the 100 cases with standard testing methods, versus 27 exclusions with the pa3'HVR probe alone. Four exclusions detected with standard methods were not detected with the probe and one exclusion detected with the probe was missed by standard testing. The probability of excluding a falsely accused man by use of the pa3'HVR probe was approximately 90 percent. In cases where exclusions were not encountered, the data obtained with the pa3'HVR probe increased the paternity index calculated from standard testing by about 16-fold.2+ informative for paternity testing.

Alleles↗