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At least 919 records · Page 51Linked to original sources
PubMed2005

Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously.

PURPOSE: To report a rare case of a patient with two germline mutations arising de novo resulting in bilateral retinoblastoma and hypochondroplasia. DESIGN: A brief review about retinoblastoma and hypochondroplasia; a case report with genetic mutational analysis results. CASE REPORT: We report a patient manifesting the clinical features of both bilateral retinoblastoma and hypochondroplasia. Genetic analysis revealed two germline mutations, a seven base-pair deletion in exon 12 (G70313-703129del) in one allele of the retinoblastoma gene (RB1) and the N540K (C1620C > A) mutation in one allele of the fibroblast growth factor 3 (FGFR3) gene, a frequent mutation in hypochondroplasia. Neither parent has a personal or family history of cancer or ocular tumors. Only the patient's mother is short in stature, and her genetic analysis revealed no FGFR3 mutations. CONCLUSIONS: Although the probability of both germline mutations occurring in a single individual is exceedingly low, the etiology and mechanism are unknown in this patient. To the best of our knowledge, this is the first report of two clinically distinct heritable germline mutations arising de novo in an individual.

Female↗
PubMed2000

Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.

In hereditary retinoblastoma, different epidemiological studies have indicated a preferential paternal transmission of mutant retinoblastoma alleles to offspring, suggesting the occurrence of a meiotic drive. To investigate this mechanism, we analyzed sperm samples from six individuals from five unrelated families affected with hereditary retinoblastoma. Single-sperm typing techniques were performed for each sample by study of two informative short tandem repeats located either in or close to the retinoblastoma gene (RB1). The segregation probability of mutant RB1 alleles in sperm samples was assessed by use of the SPERMSEG program, which includes experimental parameters, recombination fractions between the markers, and segregation parameters. A total of 2,952 single sperm from the six donors were analyzed. We detected a significant segregation distortion in the data as a whole (P=.0099) and a significant heterogeneity in the segregation rate across donors (.0092). Further analysis shows that this result can be explained by segregation distortion in favor of the normal allele in one donor only and that it does not provide evidence of a significant segregation distortion in the other donors. The segregation distortion favoring the mutant RB1 allele does not seem to occur during spermatogenesis, and, thus, meiotic drive may result either from various mechanisms, including a fertilization advantage or a better mobility in sperm bearing a mutant RB1 gene, or from the existence of a defectively imprinted gene located on the human X chromosome.

Adult↗
PubMed2002

A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.

We have identified a splice-site mutation (IVS6+1G-->T) in the RB1 gene, in two unrelated families with incomplete-penetrance retinoblastoma. Analysis of RNA from white blood cells showed that this mutation causes skipping of exon 6. Although this deletion results in a frameshift, most carriers of the mutation did not develop retinoblastoma. Interestingly, the relative abundance of the resultant nonsense messenger RNA varies between members of the same family and is either similar to or considerably lower than the transcript level of the normal allele. Moreover, variation of relative transcript levels is associated with both the sex of the parent that transmitted the mutant allele and phenotypic expression: All eight carriers with similar abundance of nonsense and normal transcript have received the mutant allele from their mother, and only one of them has developed retinoblastoma; by contrast, all eight carriers with reduced abundance of the nonsense transcript have received the mutant allele from their father, and all but two them have retinoblastoma. After treatment with cycloheximide, the relative abundance of transcripts from paternally inherited mutant alleles was partly restored, thus indicating that posttranscriptional mechanisms, rather than transcriptional silencing, are responsible for low levels of mutant messenger RNA. Our data suggest that a specific RB1 mutation can be associated with differential penetrance, on the basis of the sex of the transmitting parent.

Amino Acid Sequence↗
PubMed2001

Case-control study of parental age, parity and socioeconomic level in relation to childhood cancers.

BACKGROUND: Parental ages, parity, and social class have been found in some studies to be associated with particular childhood cancers. Further investigation is warranted because of conflicting findings, biases, and the need to test specific hypotheses. METHODS: A case-control study was conducted (England and Wales, ages 0-14 years). Cases were ascertained from the National Registry of Childhood Tumours, and were born and diagnosed during 1968-1986. Birth record controls were matched 1:1 to cases on date of birth, sex and area. Information on variables of interest for both groups came from birth records. In all, 10 162 pairs could contribute to matched analyses. RESULTS: The odds ratio (OR) for retinoblastoma resulting from assumed new germ cell mutations among children of fathers aged > or =45 years was 3.0 (95% CI : 0.2-41.7). The risk of childhood acute lymphoblastic leukaemia (ALL) was significantly higher among children of older mothers and fathers, and significant trends with increasing mothers' (P < 0.001) and fathers' (P = 0.002) ages were found. There was a strong and significant protective effect of increasing parity on risk of childhood ALL. The adjusted OR for parity of > or =5 (versus 0) was 0.5 (95% CI : 0.3-0.8). Children in more deprived communities had a lower risk of ALL; but this was not significant after confounders were allowed for. There was no significant effect of social class based on parental occupation on ALL risk, but the numbers were small in those analyses. CONCLUSIONS: The associations between ALL and parental ages did not disappear when children with Down syndrome were excluded, suggesting an additional explanation beyond known links. The strong ALL association with parity may be because of an unknown environmental risk factor.

Adolescent↗
PubMed1998

Difficult tracheal intubation in patients with retinoblastoma caused by 13q deficiency.

Anesthetic management of retinoblastoma patients is unremarkable in most cases. Patients are most often babies and laryngoscopic procedures for intubation are usually easy. However, we recently experienced two cases with retinoblastoma with whom tracheal intubation was accomplished with difficulty. We report the two cases with a review of all 5-year records of retinoblastoma (rbl) in our institution. The cases we experienced recently were all patients with rbl with deletion of the long arm of thirteenth chromosome (13q-). In the 5-year review, the incidence of the difficult intubation was significantly higher (P < 0.05) in rbl with 13q- (4/11) than in rbl without 13q- (0/147). In our experience macroglossia was noted for the difficulty in the intubation. We assume that some patients with rbl will be cases of difficult intubation even to cannot ventilate-cannot intubate level when the results of their chromosomal analysis show a deletion on the thirteenth chromosome.

Anesthesia↗
PubMed1998

Expanded superficial temporalis fascial flap for orbital reconstruction in a postirradiated orbit: a patient report.

The temporalis musculofascial flap can be pre-expanded to increase its area prior to transfer. The large size of the preexpanded flap enabled orbital reconstruction to be carried out in a postirradiated orbit in a three-year-old girl. The flap was split, transferred in two parts, and covered with a buccal mucosal graft. A prosthetic shell was satisfactorily fitted postoperatively.

Child, Preschool↗
PubMed1999

Orbital development after enucleation in early childhood.

PURPOSE: To identify growth retardation in the orbits of children who have undergone enucleation and orbital implantation. METHODS: Children who underwent unilateral enucleation for retinoblastoma were examined. Any patient who had received external beam radiation or chemotherapy was excluded. Follow-up time was 5.5 to 10 years (mean, 8.33 years). Several linear measurements were made on the enucleated orbit and the fellow orbit. These measurements were compared using the paired Student t test and multivariate analysis of variance. RESULTS: There was no statistically significant difference in any of the measured orbital dimensions between the enucleated and fellow orbits. CONCLUSIONS: Enucleation in children, when combined with a large orbital implant, does not cause orbital growth retardation.

Child↗
PubMed2002

Swallowed ocular prostheses: report of three cases in children with retinoblastoma.

PURPOSE: To report 3 instances of 2 children who swallowed their ocular prostheses. METHODS: A 30-month-old boy whose eye had been enucleated for retinoblastoma swallowed his ocular prosthesis on 2 different occasions, and a 32-month-old boy whose eye had also been enucleated for retinoblastoma swallowed his ocular prosthesis once. RESULTS: In the second child, an abdominal radiograph was obtained, but the swallowed prosthesis was not apparent, and radiographic imaging of the recovered prosthesis failed to demonstrate an identifiable object. In each case, the prosthesis was recovered in the child's stool without incident several weeks later. Neither child had physical complications as a result of the swallowing events. CONCLUSIONS: We report 3 instances in which a child fitted for an ocular prosthesis after enucleation swallowed his prosthesis and had no untoward effects. The failure of imaging to detect the prostheses in the second child is attributed to the radiolucent nature of materials used in the manufacture of the prosthesis. Each of the children was having life stresses in addition to his medical treatment that may have accounted for his behavior.

Child, Preschool↗
PubMed1979

Immersion ultrasonography: simultaneous A-scan and B-scan.

In eyes with opaque media, ophthalmic ultrasound provides a unique source of information that can dramatically affect the course of patient management. In addition, when an ocular abnormality can be visualized, ultrasonography provides information that supplements and complements other diagnostic testing. It provides documentation and differentiation of abnormal states, such as vitreous hemorrhage and intraocular tumor, as well as differentiation of orbital tumors from inflammatory causes of exophthalmos. Additional capabilities of ultrasound are biometric determinations for calculation of intraocular lens implant powers and drug-effectiveness studies. Maximal information is derived from ultrasonography when A-scan and B-scan techniques are employed simultaneously. Flexibility of electronics, variable-frequency transducers, and the use of several different manual scanning patterns aid in detection and interpretation of results. The immersion system of ultrasonography provides these features optimally.

Carcinoma↗
PubMed1979

Contact B-scan ultrasonography: a practical approach.

The Bronson-Turner ultrasonoscope is an extremely practical, simple ultrasound device for the clinician. Used with real time, gray scale, and three-dimensional thinking, this unit has gained wide acceptance. It is designed primarily for clinical diagnostic ocular examination; with experience, it can be used for orbital interpretation as well. Axial length measurement with this instrument is only approximate.

Eye Diseases↗
PubMed1997

Advances in treatment of retinal angiomas.

Retinal angiomas are benign vascular hamartomatous lesions with important systemic and visual implications. Early diagnosis and treatment of retinal angiomas with an appropriate systemic workup for associated systemic diseases can prevent visual loss and morbidity and mortality. Tumors less than 3 mm in diameter usually can be ablated with laser photocoagulation. Cryotherapy should be reserved for eyes in which media opacities prohibit use of the laser or the tumor is located in an area of shallow serous detachment or in the extreme peripheral retina. Macular puckers or tractional macular detachments caused by retinal angiomas can be treated effectively by pars plana vitrectomy combined with photocoagulation or cryotherapy to the retinal angioma. Penetrating diathermy is a useful alternative therapy for large tumors but is fraught with risks of hemorrhage and inadvertent retinal breaks with or without vitreous loss or retinal detachment. We have found proton-beam irradiation to be an efficacious and safe treatment for large retinal angiomas (> 3 mm) and for cases complicated by exudative retinal detachments or for tumors involving the optic nerve. We believe this new, noninvasive therapy is a significant advance in the treatment of complicated retinal angiomas or for those tumors that have failed to respond to conventional measures.

Combined Modality Therapy↗