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Biomedical subjects

R F Ogle

Publications and source records attributed to R F Ogle.

8 recordsLinked to original sources
PubMed2000

Second trimester markers of aneuploidy.

The risks of aneuploidy associated with identification of a sonographic marker in the low risk population is controversial. Prior risk estimates have been derived usually from high risk populations. Screening programmes in the first trimester, second trimester and combined first and second trimester will undoubtedly alter the second trimester scan as a screening tool for aneuploidy. This chapter reviews the current sonographic markers and the difficulties in their application to the general population.

Aneuploidy↗
PubMed1999

Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops.

Smith-Lemli-Opitz syndrome (SLO) is a recognized clinical entity with distinctive anomalies. Recently it has been shown that a specific defect in cholesterol metabolism, 7-dehydroxycholesterol reductase deficiency, causes the multiple abnormalities seen in SLO. There have been two reports of first-trimester nuchal translucency associated with SLO. We report two cases of SLO in the third trimester, one with persisting nuchal oedema and the other presenting with hydrops. These findings may explain a proportion of the perinatal loss associated with this syndrome.

Adult↗
PubMed1999

Fetal scalp cysts--dilemmas in diagnosis.

Detection of fetal scalp cysts may pose diagnostic challenges in terms of differentiating between structures whose origin is ectodermal, so presumed benign, and neuroectodermal, potentially having neurological significance. We describe the first case of a fetal scalp dermoid cyst to be detected antenatally and discuss the concept of sequested meningoceles which may not have neurological consequence but can be associated with other structural abnormalities.

Adult↗
PubMed1998

Novel fetal imaging techniques.

Fetal imaging technology is evolving rapidly, and new techniques are being evaluated to establish their role in the assessment of the fetus. It is essential that these methods of fetal imaging are carefully assessed to ascertain if they provide additional information to assist in the clarification or understanding of fetal disease states that is not already provided by current conventional imaging techniques.

Female↗
PubMed1998

Prenatal screening for Down syndrome.

There are many screening programmes designed to identify pregnancies at increased risk of aneuploidy, in particular Down syndrome. Serum biochemical and ultrasound screening in the first and second trimester may further confuse risk interpretation when used in unselected populations. This article reviews current Down syndrome screening programmes, their advantages and limitations, and possible areas for research.

Adult↗
PubMed1997

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

Deficiency of complex I (reduced nicotinamide adenine dinucleotide dehydrogenase-ubiquinone oxidoreductase) of the mitochondrial respiratory chain may be seen as a pure myopathy or as a neuromuscular disorder at presentation. Efficacy of long- term therapy for these disorders is yet to be established. We report the case of a female patient with complex I deficiency and skeletal myopathy, who has had a sustained clinical response to riboflavin during 3 years of therapy. Molecular studies found no mutations in the putative flavin mononucleotide binding site in the 51 kd subunit of complex I, but a T-to-C transition at nucleotide 3250 in the mitochondrial DNA tRNA(Leu(UUR)) gene was identified. This mutation has been reported in one other family in that five members had fatigue with or without muscle weakness. There were also five cases of unexplained infant deaths in that family and two cases in the family reported here. Riboflavin therapy should be attempted in all patients with complex I deficiency when the clinical presentation is one of isolated skeletal myopathy.

Carnitine↗