Effect of Successive Single-gestation Pregnancies on the Course of Maternal Human Immunodeficiency Virus Disease and Perinatal Transmission

Objective: This study was undertaken to examine the effect of successive pregnancies over a 3-year period on the course of maternal human immunodeficiency virus (HIV) infection and the rate of perinatal transmission of HIV

The seas unite: maritime cooperation in the Asia Pacific Region

This monograph includes the discussion papers presented at the Second meeting of the CSCAP Maritime Cooperation Working Group held in Kuala Lumpur 16-17 April 1996. These papers confirmed that maritime issues, and the maritime environment generally, are a rich source of ideas and initiatives for developing the habit of cooperation and dialogue between Asia Pacific countries. Our choice of title for the proceedings of the second meeting, The Seas Unite: Maritime Cooperation in the Asia Pacific Region, reflects the progress made by CSCAP Maritime Cooperation Working Group in defining issues and identifying key areas for further action. The papers presented to the meeting enabled the Working Group to identify a comprehensive way ahead covering a wide range of initiatives that could provide the basis for a possible regional agreement on maritime cooperation, education and training, and the management of regional seas. These initiatives are described in more detail in the last chapter of this book. Preceding chapters cover areas such as regional naval cooperation, shipping and marine safety, marine scientific research and environmental issues, and the resolution of marine resource and boundary disputes. The CSCAP Maritime Cooperation Working Groups is dealing with issues which are of growing common concern to regional countries. They have immense potential value as a basis for preventive diplomacy and confidence building in the region. This potential has been recognised by the ASEAN Regional Forum but, while progress is being made, there is still a long way to go in implementing practical measures to overcome the tensions and unresolved problems of jurisdiction and sovereignty that exist in the maritime environment of the Asia Pacific region

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene and the resulting TPP1 enzyme deficiency. CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2-4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death. Atypical phenotypes are characterized by later onset and, in some instances, longer life expectancies. Early diagnosis is important to optimize clinical care and improve outcomes; however, currently, delays in diagnosis are common due to low disease awareness, nonspecific clinical presentation, and limited access to diagnostic testing in some regions. In May 2015, international experts met to recommend best laboratory practices for early diagnosis of CLN2 disease. When clinical signs suggest an NCL, TPP1 enzyme activity should be among the first tests performed (together with the palmitoyl-protein thioesterase enzyme activity assay to rule out CLN1 disease). However, reaching an initial suspicion of an NCL or CLN2 disease can be challenging; thus, use of an epilepsy gene panel for investigation of unexplained seizures in the late-infantile/childhood ages is encouraged. To confirm clinical suspicion of CLN2 disease, the recommended gold standard for laboratory diagnosis is demonstration of deficient TPP1 enzyme activity (in leukocytes, fibroblasts, or dried blood spots) and the identification of causative mutations in each allele of the TPP1/CLN2 gene. When it is not possible to perform both analyses, either demonstration of a) deficient TPP1 enzyme activity in leukocytes or fibroblasts, or b) detection of two pathogenic mutations in trans is diagnostic for CLN2 disease