A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

We present two siblings with a previously undescribed congenital disorder of glycosylation (CDG). The first child died in utero with severe hydrops fetalis and the second presented following preterm delivery with respiratory insufficiency, generalised edema and a protein-losing enteropathy. Both had a similar pattern of facial dysmorphism and joint contractures. The diagnosis of CDG-I was made following the birth of the second child based on the serum transferrin isoform pattern. CDG-Ia and -Ib were excluded by specific enzyme analysis. Joint contractures are a relatively uncommon finding in CDG, although fetal hydrops (CDG-Ia) and protein-losing enteropathy (CDG-Ib) are well recognized. CDG must be considered in the differential diagnosis of hydrops fetalis, congenital hypoproteinemia and death in early infancy, particularly when associated with dysmorphic features.     

Structural Inequities and Social Networks Impact Hormone Use and Misuse Among Transgender Women in Los Angeles County

In order to reduce gender dysphoria and combat stigma, transgender women often affirm their gender through social and medical transition, which may include cross-sex hormone therapy. This study examined associations between medically monitored hormone use and hormone misuse (non-prescribed hormone use including “fillers”), structural inequities (access to housing, health insurance, and income), and social network dynamics among 271 transgender women in Los Angeles. Hormone use status was coded trichotomously (hormone use, hormone misuse, no hormone use), and robust multinomial logistic regression as well as novel social network analysis was conducted to examine associations. Results demonstrated that younger, African-American/Black transgender women were most likely to engage in hormone misuse compared to transgender women who were older or non-African-American/Black. One-third of the sample reported sex work as a main source of income, and this group was more likely to misuse hormones than those with another primary source of income. Transgender women with access to stable housing and health insurance were most likely to engage in medically monitored hormone use. Social network analysis revealed that transgender women with a greater number of hormone-using network alters were most likely to misuse hormones, but that using the Internet to find transgender friends mitigated this association. Results demonstrate the multifaceted risk profile of transgender women who use and misuse hormones, including that social networks play an important role in hormone usage among transgender women.     

The effects of microenvironment and internal programming on plasma cell survival

Two populations of plasma cells (PCs) are formed after immunization. A short-lived population in the spleen and lymph nodes provides rapid protection. A long-lived population, mainly in the bone marrow, provides lasting immunity. The mechanisms responsible for the differences in PCs life span remain largely unknown. The goal of the current study was to compare the intrinsic survival capacity of isolated short-lived (spleen) versus long-lived (bone marrow) PCs. We approached this question by using a previously established in vitro model that measures PC survival in a supportive stromal environment. Regardless of the tissue source or isolation time point after immunization, the two PC populations showed similar intrinsic ability to survive in vitro. To test differences in the stromal microenvironments, stromal cells from marrow, spleen or lymph nodes were evaluated for ability to support PCs survival. Survival of isolated PC was always greater when co-cultured with marrow stromal cells compared with those from spleen (or lymph node) despite the finding that IL-6, necessary for PC survival in culture, was secreted by all three stromal cell sources. Additionally, low expression of B-cell-activating factor belonging to the tumor necrosis factor-family was detected in all three stromal isolates. In contrast, marrow stromal cells were distinguished by cell-surface phenotype and CXC chemokine ligand (CXCL)12, IL-7 and stem cell factor expression. Although CXCL12 has been suggested as a possible survival factor for PC, addition or neutralization of CXCL12 had minimal effect on PC survival. We conclude the mechanisms regulating PC longevity appear extrinsically driven and marrow favored, but the factors that give marrow stromal cells a unique advantage remain unknown.     

Burden of paediatric invasive pneumococcal disease in Europe, 2005

Within the European Union (EU), documenting the burden of invasive pneumococcal disease (IPD) in infants and children is important for coordinating effective pneumococcal immunization policies. Our objective was to document the burden of IPD in countries of the EU plus Switzerland and Norway. European affiliates of Wyeth Vaccines made available recent epidemiological data on IPD from local disease surveillance programmes, including unpublished sources. Recent literature and websites were also searched to provide as wide a representation as possible. This included OVID and abstracts from a number of international meetings, dating from the year 2000. The reported rates of paediatric IPD per 100000 (age) ranged from a low of 1.7 (<2 years) to 4.2 (2-15 years) in Sweden to a high of 93.5 to 174 (<2 years) to 56.2 (<5 years) in Spain. The percentage of circulating serotypes causing IPD that are covered by 7-valent pneumococcal conjugate vaccine (PCV) IPD serotype coverage ranged from 60% to 80% for European children aged <2 years. Under reporting, differences in reporting methods, antibiotic prescribing and disparities in blood-culturing practices may explain the differences in reported disease incidence. Because of the excellent clinical efficacy of the PCV against IPD, national pneumococcal vaccination programmes in Europe have the potential to prevent much morbidity and mortality.     

Intervention with traditional food as a major source of energy, protein, iron, vitamin C and vitamin A for rural Dalit mothers and young children in Andhra Pradesh, South India

Intakes of energy, protein, iron and vitamin A in India are usually reported as inadequate. Recognizing that traditional food systems are sustainable, high in species variety, and have rich nutrient sources, we compared dietary intakes and nutrient sources of Dalit mothers and their children living in villages with and without an intervention based on improved access to the traditional Dalit food system. 24-hour recalls were conducted with Dalit mothers and their children aged 6-39 months during summer and rainy seasons in 2003. We found that mothers from intervention villages had significantly higher intakes of energy (mean +/- SD: 12,197 +/- 3,515 kJ vs. 11,172 +/- 3,352 kJ; p =0.02) and protein (77.5 +/- 25.1 g vs. 71.1 +/- 25.2 g; p =0.05) in summer, and higher intakes of energy (11,168 +/- 3,335 kJ vs. 10,168 +/- 3,730 kJ; p = 0.04), protein (68.9 +/- 22.6 g vs. 60.4 +/- 23.8 g; p <0.01) and iron (15.8 +/- 6.6 mg vs. 13.7 +/- 9.1 mg; p <0.01) during rainy season. There were no differences in children's intakes between intervention and control villages. In mothers, sorghum contributed 29% of energy, 33% of protein and 53% of iron, and green leafy vegetables contributed 21% of vitamin C and 38% of vitamin A. Our results indicate that traditional food such as sorghum, pulses and green leafy vegetables are major sources of energy, protein, iron, vitamin C and vitamin A, and that mothers from villages with the traditional food intervention had higher intakes of energy, protein and iron.     

Local cultural animal food contributes high levels of nutrients for Arctic Canadian Indigenous adults and children

Food systems of Canadian Arctic Indigenous Peoples contain many species of traditional animal and plant food, but the extent of use today is limited because purchased food displaces much of the traditional species from the diet. Frequency and 24-h dietary interviews of Arctic adults and children were used to investigate these trends. The most frequently consumed Arctic foods were derived from animals and fish. In adults these foods contributed 6-40% of daily energy of adults. Children ate much less, 0.4-15% of energy, and >40% of their total energy was contributed by "sweet" and "fat" food sources. Nevertheless, for adults and children, even a single portion of local animal or fish food resulted in increased (P < 0.05) levels of energy, protein, vitamin D, vitamin E, riboflavin, vitamin B-6, iron, zinc, copper, magnesium, manganese, phosphorus, and potassium; although children had similar results for these nutrients, they did not reach significance for energy, vitamin D, or manganese. Because market foods are the major source of energy in the Arctic, traditional animal-source foods are extremely important to ensure high dietary quality of both adults and children.