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Biomedical subjects

R Laxova

Publications and source records attributed to R Laxova.

53 records · Page 3Linked to original sources
PubMed1983

Menkes' syndrome with vascular and adrenergic nerve abnormalities.

Using the formaldehyde-induced fluorescence method, we found a peculiar rosary-type swelling of the adrenergic axons in the peripheral nerves, deficiency of the perivascular adrenergic plexuses in the visceral and cerebral arteries, and reduction of noradrenergic fluorescence in the tegmental and hypothalamic regions of a 3-year-old boy who had typical Menkes' syndrome (kinky hair syndrome). The nigrostriated neurons retained moderate intensity of fluorescence compared with those in postmortem (control) brains. Histologically, marked dilatation of the visceral, meningeal and cerebral arteries were noted. Copper deficiency, the cause of this disease, induces failure of central and peripheral noradrenergic neurons and leads to abnormal vasodilatation.

Axons↗
PubMed1982

Congenital generalized fibromatosis. Case report and literature review.

A typical case of congenital generalized fibromatosis (CGF) is presented and the literature on this entity is reviewed. CGF is a rare condition which is probably heritable. It is manifested in infancy. Because of the unusual biological behavior of the fibromata, two clinical courses occur--death, if vital viscera are involved, or regression of the lesions and survival without significant disability. Including the present example, 63 cases have been reported.

Bone Neoplasms↗
PubMed1981

Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs.

We report four patients with idiopathic hydrops fetalis (IHF), two being affected sibs; the latter represent the first reported familial occurrence. A review identified 45 additional cases that seem to represent 1/3 to 2/3 of all cases of hydrops fetalis of nonimmunologic origin (NIHF). Our patients and the other adequately documented cases permit delineation of "idiopathic" fetal hydrops; ie, that form of the condition which is not associated with any detectable fetal or maternal disorders. These fetuses are usually premature, often the product of a gestation complicated by pre-eclampsia, occasional maternal anemia, and most often polyhydramnios. The fetuses have striking edema of most tissues with effusions into serous cavities, but no other specific anatomic abnormalities. They are often hypoproteinemic, but not anemic and do not manifest signs of accelerated hematopoiesis. Results of fetal and maternal immunohematological examination are normal. Fetal mortality rates approach 100% but recent data suggest that salvage rates can be significantly improved with early diagnosis. This requires accurate diagnosis and all factors and conditions known to be associated with other types of NIHF should be excluded. A relationship between fetal hypoalbuminemia and IHF may exist and needs further investigation, IHF is sporadic in most instances; however, recessive inheritance may be indicated by occurrence in two sibs. IHF represents a distinct, frequently unrecognized and relatively common entity in need of further study and increased recognition.

Diagnosis, Differential↗
PubMed1979

Prenatal diagnosis of genetic defects.

A wide discrepancy exists between the number of amniocenteses performed for prenatal diagnosis of genetic abnormalities and the size of the population at risk of having offspring with these abnormalities. A small percentage of the women at risk are being offered amniocentesis. The optimal time for amniocentesis is 14 to 16 weeks of pregnancy. Preliminary ultrasonography is indicated in all instances. Highly specialized biochemical tests may be necessary and should be done at special centralized laboratories. The risk of complications of amniocentesis is 0.5% to 1%.

Adult↗
PubMed1977

An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967.

An etiological survey is presented of all suveryl retarded children living in Hertfordshire, at home and in residential care, born between January 1, 1965, and December 31, 1967. One hundred and forty-six children (87 boys and 59 girls) were ascertained, out of a total population of 46,960, with a prevalence of 1 in 320 or 3.1 per 1,000. Approximately 1/3 (47) had the Down syndrome, 1 per 1,000 population. It was possible to establish a diagnosis in a further 45 cases, which included 1 additional case of autosomal chromosome abnormality and 7 each of autosomal dominant, recessive and X-linked conditions; 17 were associated with presumed multifactorial etiological factors; in 6 the condition was thought to have been caused by an environmental agent. It was not possible to establish a cause in the remaining 54 cases. Recurrence risks of severe mental retardation in cases where it is possible to establish a definite diagnosis are discussed and the potential value, for genetic counseling purposes, of a categorizing such patients into broad symptomatological groups, is suggested.

Dermatoglyphics↗
PubMed1977

A family with syndactyly type II (synpolydactyly).

Syndactyly Type II is reported in eight members of a family in four generations. Affected individuals show two distinctive patterns of variation in the expression of the gene. Distortion of dermatoglyphic patterns is associated with the severe but not the mild manifestation of the malformation. The diagnostic significance of minimal features of the condition is discussed. Linkage data suggest that loci for Syndactyly II and for blood-group antigens ABO, MNSs, P, Rh and Kell are not closely linked.

Adult↗
PubMed1975

A clinical service for prenatal diagnosis.

A centralised clinical prenatal diagnostic service has been established and the results of amniocentesis in 174 patients are discussed. Termination of pregnancy was performed in 3 patients on the basis of cytogenetic abnormalities (47,XXY, 47,XXX, 47,XY 21+): in 2 patients with anencephalic fetuses on the basis of alpha-fetoprotein and ultrasound investigations, and 1 patient with fetal Hurler's syndrome. One mother, aged 45, refused amniocentesis and gave birth to a child with Down syndrome. Amniocentesis was followed by fetal death and abortion in 3 patients, all of whom had repeat amniocentesis. Cytogenetic results were not obtained from cell-culture in 9 out of 155 patients, but it was possible to explain all but 2 of the failures. An unexplained error in fetal sex determination occurred once.

Abortion, Spontaneous↗
PubMedDate not supplied

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).

We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis and inferior olivary nuclei) associated with hypoplasia of the neocerebellum, both cerebellar and cerebral peduncle. All three infants died before six months of age. The clinical features are characterized by severe hypotonia, areflexia, failure to thrive, respiratory insufficiency in all cases, cardiomyopathy and dislocated hips at birth in two of the three siblings. Extensive serum, urinary and leukocyte enzyme assays in the second infant failed to disclose a specific metabolic abnormality. The diagnosis of OPCA was established prior to death by Magnetic Resonance Imaging (MRI) in the youngest infant. Since OPCA represents a heterogeneous group of diseases, correlation of neuropathologic, clinical, genetic and MRI findings at early stages of evolution becomes crucial in the understanding of the nosology of OPCA and its variants.

Female↗