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At least 739 records · Page 41Linked to original sources
PubMed1978

Hyperthermia as a possible teratogenic agent.

Hyperthermia has been shown to be a teratogenic agent in a number of animal species. We have attempted to determine if maternal hyperthermia during early gestation might also be responsible for problems in human development. Eight retrospectively ascertained cases, in which high fever had occurred at four to six weeks' gestation, revealed a similar clinical phenotype in the infants despite the fact that the maternal fever was caused by different infections. The most consistent manifestations were severe mental deficiency, seizures, hypotonia, microphthalmia, midface hypoplasia, and mild impairment of distal limb development. In five patients exposed to hyperthermia at seven to 16 weeks' gestation, predominant features were hypotonia, neurogenic arthrogryposis, and central nervous system dysgenesis. The cause of fever differed in each of these cases; in one, a patient with neurogenic arthrogryposis, the hyperthermia had been induced in a sauna bath. No apparent serious problem in morphogenesis was found following hyperthermia during the latter half of gestation. These findings are similar to those resulting from induced hyperthermia in animals. Further research on the effects of hyperthermia in the developing human being seems warranted.

Abortion, Spontaneous↗
PubMed1987

Vascular pathogenesis of unilateral craniofacial defects.

The term hemifacial microsomia refers to unilateral defects in development of structures derived from the first and second branchial arches. Recently we evaluated three unrelated children who had a similar pattern of unilateral craniofacial defects that was associated with other structural abnormalities having a disruptive vascular pathogenesis. The clinical findings in these patients suggest that one cause of hemifacial microsomia is in utero interruption of blood flow.

Adolescent↗
PubMed1987

Intrauterine herpes simplex virus infections.

Neonatal herpes simplex virus (HSV) infection is usually acquired at birth, although a few infants have had findings suggestive of intrauterine infection. We describe 13 babies who had clinical manifestations of intrauterine HSV infection, including skin lesions and scars at birth (12), chorioretinitis (eight), microcephaly (seven), hydranencephaly (five), and microphthalmia (two). All infants had combinations of these defects. Infection was proved by viral isolation in each case; all isolates were HSV-2. Two infants died during the first week of life; 10 of the surviving infants had severe neurologic sequelae, and one infant was blind. Four mothers experienced an apparent primary genital HSV infection, and one had recurrent infection, at varying times during gestation. The remaining women denied a history of symptoms of genital HSV infection. These findings indicate that intrauterine HSV infection can occur as a consequence of either primary or recurrent maternal infection and has severe consequences for the fetus.

Abnormalities, Multiple↗
PubMed2003

Congenital eye anomalies.

Any part of the eye and its surrounding tissues may be affected by congenital malformation. Anomalies may occur in isolation, in combination, or as part of a systemic malformation syndrome. Early identification is essential to remove potential obstructions to visual development and to identify potential underlying multisystem disease. Recognition of congenital eye anomalies can also improve parental understanding and genetic counseling.

Cataract↗
PubMed1983

Genetics in pediatric ophthalmology.

Genetic factors are becoming increasingly important causes of both congenital and acquired eye disease in the pediatric age group. Referral to an ophthalmologist is important both for global genetic disorders potentially affecting the eye and for eye disorders that may be diagnostic for genetic disease.

Abnormalities, Multiple↗
PubMed1997

Feeding rhythm and ornithine decarboxylase activity in hereditary microphthalmic rats.

The effects of congenital absence of visual input on daily rhythms of feeding behavior and tissue ornithine decarboxylase activity were examined in hereditary blind rats. Food intake of normal and hereditary microphthalmic rats was determined every 3 h over 48 h under a 12 h-12 h light-dark cycle. Normal rats took their daily food mainly during the dark period, with two clear peaks in the evening and morning, but hereditary microphthalmic rats ate continuously, suggesting that the feeding rhythm of the hereditary microphthalmic rats is not entrained by the light-dark cycle due to a lack of their optic nerve. The hepatic and renal ornithine decarboxylase activities in normal rats showed a circadian rhythm with a peak at 2000 hours in the dark period as reported previously. In hereditary blind rats, however, the hepatic and renal enzyme activities were found not to undergo any remarkable diurnal change through the light-dark period. These results mean that the feeding rhythm and hepatic and renal ornithine decarboxylase activity rhythm in hereditary blind rats disappeared.

Animals↗
PubMed1999

Effects of restricted food access on diurnal fluctuation of behaviors and biochemical functions in hereditary microphthalmic rats.

The characteristics in circadian rhythms of spontaneous locomotor activity, and some metabolic properties were examined in microphthalmic mutant rats of the Donryu strain under ad lib or restricted food access conditions. The growth of microphthalmic rats was retarded compared to that of normal-sighted rats from the same strain. Under a 12:12-h light:dark (LD) cycle with free access to food, normal-sighted rats showed basically nocturnal patterns of the locomotor activity rhythms, but most of microphthalmic rats manifested free-running rhythms and a few of them showed arrhythmic. When food access was restricted only for 6 h in the light period of the LD cycle, the normal and hereditary blind rats generated gradually new patterns of the locomotor activities in which the animals showed to be more active in the light period. Plasma glucose concentration in normal rats showed a peak after food consumption, but microphthalmic mutants exhibited no periodic changes of the glucose levels. Responses of the biochemical parameters of protein and mineral metabolism to restricted food access in the mutants did not differ from those in normal rats. These results suggest that microphthalmic mutant rats show the free-running circadian rhythm of locomotor activity due to a complete lack of their optic nerve and visual input to the circadian clock, but the mutants maintained the ability to shift their circadian phase induced by restricted food access similar to that in control rats, and also that the mutants have almost normal properties of biochemical and physiological functions except for glucose metabolism.

Analysis of Variance↗
PubMed1998

Coats' disease and persistent hyperplastic primary vitreous. Role of MR imaging and CT.

Coats' disease is an idiopathic disorder in which telangiectatic and aneurysmal retinal vessels leak a lipoproteinaceous exudate, with consequent bullous retinal detachment. It is a diagnostic challenge, and CT and MR imaging provide valuable information to differentiate it from other pathologies, particularly from retinoblastoma. Typical, advanced Coats' disease shows on CT a denser substance posterior to the vitreous, which on MR is hyperintense on all pulse sequences. Contrast administration on both CT and MR might give slight linear enhancement at the boundary between vitreous and exudation. Persistent hyperplastic primary vitreous (PHPV) is a unilateral disorder in a microphthalmic eye, seen in full-term infants. PHPV rarely is bilateral in patients with Norrie's disease, Warburg syndrome, or patients with retinal dysplasia. Persistent fetal vasculature leads to fibrosis, resulting in elongation of the ciliary processes, retinal detachment, and spontaneous cataracts. The CT appearance in the disorder is quite variable; however, MR imaging may be superior in demonstrating the enhancing retrolental mass and the elongated ciliary processes.

Aneurysm↗
PubMed1998

Anophthalmic socket and orbital implants. Role of CT and MR imaging.

The role of CT and MR imaging examination of orbital implants and the anophthalmic socket is expanding constantly. As the imaging techniques gain refinement and resolution, the list of potential clinical application grows. Frequent clinical-radiologic queries regarding the anophthalmic socket include neuro-radiologic findings with congenital anophthalmia or bilateral microphthalmia, the vascularization or position of an orbital implant following enucleation, or orbital recurrence of tumor following enucleation. Common clinical-radiologic questions regarding orbital implants relate to the associated findings of trauma, infection, bleeding, or recurrence of tumor in relationship to the existing orbital implant.

Anophthalmos↗
PubMedDate not supplied

Ocular colobomata.

Ocular colobomata present diagnostic and therapeutic challenges in patients of all ages, but especially in young children. The "typical" coloboma, caused by defective closure of the fetal fissure, is located in the inferonasal quadrant, and it may affect any part of the globe traversed by the fissure from the iris to the optic nerve. Ocular colobomata are often associated with microphthalmia, and they may be idiopathic or associated with various syndromes. Types and severity of complications vary depending on the location and size of the colobomata. This article reviews the pathogeneses, categorization, genetic bases, differential diagnoses and management of ocular coloboma.

Abnormalities, Multiple↗