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Biomedical subjects

G Mantel

Publications and source records attributed to G Mantel.

7 recordsLinked to original sources

Acute spinal cord injury in pregnancy: an illustrative case and literature review.

Acute trauma is not all that uncommon in pregnancy. It accounts for 15% of non-obstetric maternal deaths. Moreover, about 15% of acute spinal cord injuries involve young women of childbearing age (Gilson et al., 1995). Most of the existing literature on spinal cord injury in pregnancy is concerned with the management of patients with pre-existing lesions; very few articles deal with acute injuries. We report the management of a case of acute spinal cord injury in the third trimester of pregnancy and review the major clinical issues associated with such cases.

Adult↗

Can enquiries into severe acute maternal morbidity act as a surrogate for maternal death enquiries?

OBJECTIVE: To assess whether severe acute maternal morbidity (SAMM, 'near misses') can be used as a surrogate of an analysis of maternal deaths to describe the pattern of severe maternal disease and avoidable factors related to it. DESIGN: Prospective, descriptive study. SETTING: A SAMM and maternal mortality audit was conducted in three clearly defined geographical areas, consisting of rural and urban settings in South Africa. POPULATION: Indigent black African pregnant women. METHOD: Cases of SAMM and maternal deaths were collected in the areas and a comparison was made of the disease profiles and avoidable factors, missed opportunities and substandard care. MAIN OUTCOME MEASURES: The proportion of primary obstetric causes and avoidable factors in women with SAMM and maternal deaths, and the mortality indices of the primary obstetric causes of death and organ system dysfunction. RESULTS: A total of 423 women with SAMM and 128 maternal deaths were collected over two years. Demographic factors were similar between the groups except that significantly more maternal deaths had not attended any antenatal care. The primary obstetric causes of SAMM and maternal death did not correlate. The four most common causes of SAMM were complications of hypertension (27.2%), postpartum haemorrhage (18.0%), antepartum haemorrhage (12.8%) and abortion (11.3%), whereas the four most common causes of maternal death were non-pregnancy related sepsis (26.6%), complications of hypertension (23.4%), pre-existing medical disease (14.1%) and abortion (10.9%). The types of avoidable factors were similar between both groups although administrative factors occurred significantly more frequently in the maternal death group as did poor problem identification and monitoring. CONCLUSION: Review of SAMM gives a different disease pattern to that obtained from maternal death audits. However, in diagnosing inadequacies in the health system, similar information was obtained.

Adult↗

Three novel KCNA1 mutations in episodic ataxia type I families.

Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA.

Amino Acid Substitution↗

The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes.

In medical genetics, several systems are used to classify and code genetic disorders for the purpose of automated registration. In the Netherlands, a genetic diagnosis code system has been developed that links a unique four-digit code to a principal description and all current synonyms. The main goal of this coding system is to enable nationwide uniformity of coding, without losing access to information stored in the past, identified by the ICD/BPA code (the International Classification of Diseases as adapted by the British Paediatric Association) and/or the MIM code (McKusick's classification in Mendelian Inheritance in Man). To this effect, the Dutch diagnosis code is cross-referenced with the 2 pre-existing classification systems. Developments in medical genetics make regular updates of all coding systems necessary. In the Netherlands, new diagnosis codes are assigned centrally to preserve uniformity and distributed periodically to all 8 clinical genetic centers. Diagnosis codes are assigned in numerical order of inclusion, enabling quick and easy updates. It is possible to include subclassifications of disorders according to pattern of inheritance, gene location, and gene mutations and to cover all disorders and disorder subtypes which are not clearly distinguished by the 2 pre-existing classification systems. The architecture of the coding system is suitable for international use. It offers a practical solution for clinical geneticists in need of a coding system suitable for clinical use. The use of the diagnosis code will also facilitate reliable comparison of data and nationwide genetic epidemiological studies.

Congenital Abnormalities↗

The haemodynamic and respiratory effects of intravenous nimodipine used in the treatment of eclampsia.

OBJECTIVE: To establish the antihypertensive properties of intravenous nimodipine used to treat eclamptic patients. To assess the effects of intravenous nimodipine on oxygen delivery and consumption. DESIGN: A prospective observational study. SETTING: The Maternity Centre Obstetric Intensive Care Unit, Groote Schuur Hospital. PARTICIPANTS: Four unselected patients presenting with proteinuric hypertension and seizures. METHODS: Haemodynamic observations were obtained by a radial artery catheter and right heart catheterisation with a pulmonary artery flow directed thermodilution catheter. Observations were obtained prior to and after the administration of nimodipine. RESULTS: A significant reduction in mean arterial pressure occurred in all patients after administration of nimodipine. This was due to a significant reduction in systemic vascular resistance. Neither oxygen delivery to the tissues nor peripheral oxygen consumption changed significantly during nimodipine infusion. No adverse effects related to the use of nimodipine were documented. CONCLUSIONS: Nimodipine is an effective vasodilator. There may be a role for nimodipine as a single agent for the management of eclampsia.

Adult↗