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Biomedical subjects

R Laxova

Publications and source records attributed to R Laxova.

At least 19 recordsLinked to original sources
PubMed1999

Familial ovarian germ cell cancer: report and review.

Ovarian germ cell cancers are rare malignancies accounting for less than 5% of all ovarian cancers. We present a family in which three closely related women were diagnosed with ovarian germ cell malignancies. This family's cancer history prompted a family history investigation of women treated for ovarian germ cell malignancies in the Gynecologic-Oncology Clinic at the University of Wisconsin. One of the eight patients whose family histories were reviewed had an uncle who had been diagnosed with testicular germ cell cancer. A review found six other previously reported families in which more than one relative had been diagnosed with a malignant ovarian germ cell tumor. Additionally, several cases of families with both males and females diagnosed with germ cell cancers have been documented. The low incidence of ovarian germ cell cancers suggests that multiple occurrences in the same family may not be due to chance. Rather, it is possible that a gene conferring susceptibility to ovarian germ cell cancers, and possibly to germ cell tumors in males as well, is present in at least some of these families.

Adolescent↗
PubMed1999

Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission.

We describe two additional instances of atelosteogenesis, type III, in a woman and her son. Clinical and radiographic information concerning these individuals allows further definition of this rare skeletal dysplasia. This is the first documentation of survival to adulthood of an individual with this disorder, of prenatal diagnostic assessment of an affected individual, and of vertical transmission suggestive of autosomal dominant inheritance. The clinical and radiologic phenotype of atelosteogenesis, type III overlaps with that of another skeletal dysplasia, autosomal dominant Larsen syndrome; these most likely represent allelic conditions.

Adult↗
PubMed1999

Testing for cancer susceptibility genes in children.

It is currently estimated that about 5% of all cancers are inherited or associated with a hereditary susceptibility or predisposition. This relatively small proportion has received a great deal of attention and publicity. Primary care physicians and pediatricians are frequently confronted with their patients' desire to know whether they and their children and relatives are at increased risk to develop cancer, whether it is possible to identify those who are, and what can be done in terms of prevention and management. This chapter addresses the complexities of recent cancer genetics information to aid the pediatrician in (1) identifying families at increased risk for inherited cancer susceptibility, and (2) recognizing those patients in the pediatric population who might benefit from presymptomatic gene testing.

Child↗
PubMed1997

Del(10)(q22.3q24.1) associated with juvenile polyposis.

Juvenile polyps are the most frequent gastrointestinal polyps with a malignant potential for which the genetic basis is unknown. Juvenile polyps, with a normal epithelium but hypertrophic lamina propria, are histologically quite distinct from adenomatous polyps which have dysplastic changes in epithelial nuclei. Furthermore, the adenomatous polyposis coli (APC) gene on Chr 5, mutated somatically in adenomatous polyps and mutated in the germline of patients with familial adenomatous polyposis, is not linked to hereditary juvenile polyposis. We provide the first report indicating that a tumor suppressor gene associated with juvenile polyposis may be located at 10q22.3q24.1. Cytogenetic studies of a patient with juvenile polyposis and multiple congenital abnormalities of the head, extremities, and abdomen revealed a de novo interstitial deletion of Chr 10 as the only defect, del(10)(10q22.3q24.1).

Abdomen↗
PubMed1996

Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings.

We describe severe neonatal Kniest dysplasia. Radiological findings in a severe case include short bowed tubular bones with exaggerated metaphyseal flare, moderate platyspondyly with vertical clefts of the vertebral bodies, and characteristically shaped iliac bones. Pathologic findings included a disorganized physeal growth plate, soft crumbly cartilage with a "Swiss-cheese" appearance, and diastase resistant intracytoplasmic inclusions in the resting chondrocytes. Transmission electronmicroscopy showed dilated cisternae of rough endoplasmic reticulum with finely granular material of accumulated protein. Scanning electronmicroscopy documented striking fragmentation and disintegration of collagen fibrils resulting in a web-like pattern and large open cyst-like spaces, and deficiency and disorganization of the collagen fibrils.

Adult↗
PubMed1995

Dubowitz syndrome: long-term follow-up of an original patient.

Dubowitz syndrome is an autosomal recessive disorder of growth retardation, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965]. Little information is available on natural history and adulthood in this disorder. We report on a 30-year-old woman who was one of the first patients to be diagnosed with the condition [Grosse et al., 1971, Z Kinderheilkd 110:175-187]. Microcephaly, short stature, leg length discrepancy, hyperextensible joints, spina bifida occulta, and absence of anterior cruciate ligaments were present. Her facial appearance had been modified by several plastic surgery procedures. Eczema resolved with age, with occasional flareups. Asthma, headaches, and seizures were additional medical findings. Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood. Mild mental retardation was present. At age 30 years she is living independently in her own apartment and working full-time in a nearby sheltered workshop.

Abnormalities, Multiple↗
PubMed1994

De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.

We describe an infant boy with a unique de novo translocation involving chromosomes 1 and 4, resulting in dup(4q) and del(1p). His karyotype was 46,XY,-1,+der(1)t(1;4) (p36.2;q31.2). He had minor anomalies, congenital heart defect, respiratory distress, seizures, and central nervous system abnormalities. He died at age 11 weeks. The patient had manifestations of dup(4q) del(1p), and he was more seriously affected than patients having only one of these. No other patient with an identical chromosomal finding has been reported.

Abnormalities, Multiple↗
PubMed1994

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

BACKGROUND: Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13. The frequency of this disorder is greatly increased in patients with Prader-Willi or Angelman syndrome, both of which involve deletions of chromosome 15q. The P protein is a transmembrane polypeptide that may transport small molecules such as tyrosine, the precursor of melanin. The P gene is located in chromosome segment 15q11-q13. METHODS: We studied the tyrosinase and P genes in three patients with type II oculocutaneous albinism, one of whom also had Prader-Willi syndrome, and in one patient with a milder syndrome known as autosomal recessive ocular albinism. Individual exons of these genes were amplified from the DNA of each patient by the polymerase chain reaction and screened for mutations by simultaneous analyses of single-stranded conformation polymorphisms and heteroduplexes and subsequent DNA sequencing. RESULTS: Mutations of the P gene were identified in all four patients. These included one frame shift, three missense mutations that result in amino acid substitutions, and one mutation that affects RNA splicing. The patient with Prader-Willi syndrome plus albinism had a typical deletion of the paternal chromosome 15, rendering him hemizygous for a maternally inherited mutant allele of the P gene. The child with ocular albinism was heterozygous for two different mutations in the P gene. CONCLUSIONS: Abnormalities of the P gene are associated with a wide range of clinical phenotypes, including type II oculocutaneous albinism, albinism associated with the Prader-Willi syndrome, and at least some cases of autosomal recessive ocular albinism.

Albinism↗
PubMed1994

Fragile X syndrome.

1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked dominant way and affects about 1 in 1000 males and 1 in 2000 females; about 1 in 700 females is a carrier. 3. A characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pinching, soft skin, inconsistent mitral valve prolapse, macroorchidism, mildly shortened stature in adulthood, and characteristic behavior that may resemble autism and attention deficit disorders. Intellectual impairment in affected individuals varies from mild to severe, with a majority of affected males within the moderate range of cognitive disability. Twenty percent of males with the mutation are phenotypically and intellectually unaffected. They ae called transmitting males. 4. Female heterozygotes may be indistinguishable from the general population, or they may have subtle physical signs or both physical and intellectual impairment. 5. Sensory motor integration is the therapy of choice for the learning disabilities in children with fragile X syndrome. The benefits of folic acid supplementation are equivocal. 6. A sensitive and understanding support system for the patient and extended family is an inseparable component of appropriate management of fragile X syndrome. 7. Molecularly the mutation is characterized by varying lengths of DNA fragments consisting of the trinucleotide CGG. It is repeated about 6 to 50 times in the normal population and approximately 51 to 200 times in unaffected individuals with a so-called premuation who are at risk for expansion and transmission to offspring. Individuals with over 200 repeats are usually affected and said to have a full mutation. 8. The physician caring for a family with fragile X syndrome should work with an experienced genetics center, counselor, and a laboratory with expertise.

Adult↗
PubMed1993

Evaluation of the effectiveness of a teratogen information service: a survey of patient and professional satisfaction.

We have evaluated the effectiveness of the Wisconsin Teratogen Project (WTP), a teratogen information service, using two retrospective surveys. We surveyed medical professionals who utilized the WTP and patients who had received teratogen counseling in a clinic setting. The results from the medical professional survey indicated that medical professionals rely on the WTP for accurate and convenient teratogen information. A tendency to rely on the Physician's Desk Reference as an alternative resource was noted, reinforcing the need to encourage professionals to use teratogen information service projects. Major findings and conclusions from the patient survey included: patients found counseling to be most helpful if, whenever possible, numeric risks were provided; recommendations made in the absence of known risk were not considered by patients to be helpful for providing reassurance; overall compliance with recommendations was high but behavioral recommendations seemed to reduce reassurance and increase dissatisfaction with the service for some patients; and pregnant women exposed to low-dose ionizing radiation were more likely to have considered termination of pregnancy prior to referral but were not more likely to terminate following counseling. Our findings suggest that although the WTP is considered an effective service overall, teratogen counselors should give special consideration to patient and counseling characteristics as these can significantly influence the perception of the risk counseling provided. Particular attention should be given to patients with low-dose ionizing radiation exposure, since misperception of its teratogenic risk is extremely common.

Congenital Abnormalities↗
PubMed1992

Head circumference of children with Down syndrome (0-36 months)

This study provides statistically appropriate head circumference reference curves for males and females with Down syndrome (DS) from birth to 36 months of age. A total of 239 males and 182 females from five study populations, yielding a combination of cross-sectional and longitudinal data, were used for the analysis. The method of least squares was used to test the fit of the growth model y = a+bx+c[log(x + 1)], where x is age in months. These standardized curves should provide information of value in the medical, physical, and developmental management of children with DS.

Biometry↗