Large-scale sequencing to identify disease causing variants in X-linked mental retardation

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey et al. (2009)
Nature Genetics 41: 535–543     

A study of the effect of nasal modes of ventilation on the incidence of gastro-oesophageal reflux in preterm neonates

Background

Nasal modes of respiratory support cause variable amounts of gastric dilatation which may increase gastro-oesophageal reflux (GER) in preterms. To compare the incidence of GER in nasally ventilated, preterm babies with controls (babies not on ventilation). Type of study: A prospective, observational comparative study.

Method

Twenty-three preterm babies of gestational age 28–36 weeks and weight ranging between 1,000 g and < 2,500 g on either nasal continuous positive airway pressure (nCPAP) or nasal intermittent positive pressure venti-lation (nIPPV) were assessed for GER. They were compared with controls not on ventilation some of who were test babies when off ventilation (subgroup A) and some were unrelated babies not on ventilator but matched for gestational age and weight with test babies (subgroup B). All babies were subjected to continuous, oesophageal pH monitoring with dual sensor (upper and lower oesophageal) catheters. Reflux index (RI) was calculated as the percentage of study time the lower oesophageal pH was < 4. Primary outcome was the RI in the test and controls groups. Secondary outcome was the temporal relation of the reflux with symptoms if any. Numerical data were shown as mean with standard deviation and statistical comparisons were done using the χ²-test, Fischer test, and t-test wherever applicable.

Results

The RI was higher in ventilated babies as compared to the control group, particularly in the subgroup A, where test babies formed their own controls. Grade IV reflux (7 cases) was seen only in the ventilated babies. There was no difference in the incidence of GER in babies on nCPAP as compared with nIPPV. Grade IV reflux could not be reliably predicted by RI alone. No definite temporal relation between episodes of reflux and symptoms could be determined in this study.

Conclusion

There is an increase in GER in preterms on nasal modes of ventilation. A combination of upper (pharyngeal) and lower oesophageal sensors are preferred to a single lower oesophageal sensor when assessing GER by oesophageal pHmetry in neonates.     

Herbal Medicines Used by Bapedi Traditional Healers to Treat Reproductive Ailments in the Limpopo Province,South Africa

The current study focussed on documenting the ethnobotanical knowledge of herbal medicines used by the Bapedi traditional healers to treat reproductive ailments in the Limpopo Province, South Africa. Fifty one healers from 17 municipalities covering Capricorn, Sekhukhune and Waterberg districts of the Limpopo Province were interviewed between January and July 2011. Semi-structured interviews, observations and guided field surveys with the healers were employed. Thirty-six medicinal plant species belonging to 35 genera and 20 families were documented. The most used species were Zanthoxylum humile (25.5%), Catha edulis (21.6%), Ozoroa sphaerocarpa (15.7%), Hypoxis hemerocallidea (13.7%), Hypoxis obtusa (11.7%), Gomphocarpus fruticosus subsp. fruticosus and Gymnosporia senegalensis (9.8% each). The dominant growth forms among the reported medicinal plants were herbs (39%), followed by shrubs and trees with 33% and 28%, respectively. The preferred plant parts were roots (63.9%), followed by bark (13.9%), whole plant (11.1%), tubers (8.3%), bulbs (5.6%), fruits, leaves, stems and twigs (2.8% each). The majority of the species were used to treat gender specific reproductive ailments; while a minority were used for treating reproductive ailments of both genders. Twenty-two species (61.1%) are supported by reports of similar uses in other countries or have proven biological activity. This study illustrates that Bapedi traditional healers possess remarkable knowledge on medicinal plants used for treating and managing reproductive ailments.