PIP: A traditional birth attendant, also known as an indigenous midwife, is the main provider in many developing countries of obstetric services. Due to this unique position, the traditional birth attendant has been considered as possibly the ideal person to deliver family planning services in her local community. This consideration has influenced program policy in many countries and consequently there is information available to aid in the determination of whether to involve traditional birth attendants and, if so, how to best use them. There have been 2 opposing views in response to the involvement of traditional birth attendants. 1 view regards them as potential innovators. She is seen as ideally placed both physically and socially to act as a representative of the family planning program to her patients. The traditional birth attendant is the acknowledged and often prestigous expert on obstetrics matters, including at times traditional methods of birth control. The alternative view is less hopeful for rather than identifying the traditional birth attendant as an innovator it regards her as a firm opponent of innovation, a determined conventionalist. Pro gram experience in India, Pakistan, Indonesia and East Java and experime ntal studies in the Philippines, Malaysia, and Thailand along with anthr opological inquiries generally support the skeptical view but none of the findings imply that the traditional birth attendant should be ignored by the family planning programs. In the intermediate positions of many actual programs, the wisest plan seems to be to ensure that the potential contribution of the traditional birth attendant is neither overlooked nor exaggerated
Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalised connective tissue ageing, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metabolism and lead to severe neurological symptoms. In a patient with cutis laxa, a choreoathetoid movement disorder, dysmorphic features and intellectual disability we performed exome sequencing to elucidate the underlying genetic defect. We identified the amino acid substitution R275W in phosphatidylinositol 4-kinase type IIα, caused by a homozygous missense mutation in the PI4K2A gene. We used lipidomics, complexome profiling and functional studies to measure phosphatidylinositol 4-phosphate synthesis in the patient and evaluated PI4K2A deficient mice to define a novel metabolic disorder. The R275W residue, located on the surface of the protein, is involved in forming electrostatic interactions with the membrane. The catalytic activity of PI4K2A in patient fibroblasts was severely reduced and lipid mass spectrometry showed that particular acyl-chain pools of PI4P and PI(4,5)P2 were decreased. Phosphoinositide lipids play a major role in intracellular signalling and trafficking and regulate the balance between proliferation and apoptosis. Phosphatidylinositol 4-kinases such as PI4K2A mediate the first step in the main metabolic pathway that generates PI4P, PI(4,5)P2 and PI(3,4,5)P3 . Although neurologic involvement is common, cutis laxa has not been reported previously in metabolic defects affecting signalling. Here we describe a patient with a complex neurological phenotype, premature ageing and a mutation in PI4K2A, illustrating the importance of this enzyme in the generation of inositol lipids with particular acylation characteristics.