Landscape Review of Mail-in Self-Collection, Programs for Sexually Transmitted Infections.

BACKGROUND: Mail-in self-collection of samples with centralized reference laboratory sexually transmitted infection (STI) testing has been shown to be feasible with equivalent performance. Commercial, fee-for-service mail-in testing Web sites seem to be popular. These sites are currently unregulated by the US Food and Drug Administration. METHODS: To compile a list of US organizations offering mail-in testing for STIs/HIV, the phrases "mail-in STI testing" and "home STI testing" were entered into search engines. Supplementary information was collected by organization email or "Contact Us" submission. RESULTS: Information was collected from 20 programs in the United States offering STI mail-in, self-collection testing services. Five programs (25%) were free to consumers. Six organizations (30%) only offered prefixed kits (STIs tested could not be selected). Half of the organizations provided extragenital testing, 2 (10%) did not provide extragenital testing, and the 8 others (40%) did not clarify. Three organizations (15%) used their own laboratory, 11 (55%) did not provide laboratory information. One commercial laboratory provided services to 5 organizations. CONCLUSIONS: Mail-in self-collection services are ubiquitous and exist in all states except 2; STI testing public health programs that offer testing at no cost to the consumer are only in 46% of states. Mail-in testing is likely a permanent fixture in sexual health services and will be an important component of a hybrid approach that complements that of static clinic services.

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

We developed a next-generation sequencing (NGS) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in 40 patients. Several novel mutations were discovered. Patient 1 had a novel mutation in ACTB. Her dysmorphic feature was mild for Baraitser-Winter syndrome. Patient 2 had a truncating mutation of DYRK1A. She lacked microcephaly, which was previously assumed to be a constant feature of DYRK1A loss of function. Patient 3 had a novel mutation in GABRD gene. She showed Rett syndrome like features. Patient 4 was diagnosed with Noonan syndrome with PTPN11 mutation. He showed complete agenesis of corpus callosum. We have discussed these novel findings.

c-MYC overexpression with loss of Ink4a/Arf transforms bone marrow stromal cells into osteosarcoma accompanied by loss of adipogenesis.

The development of cancer is due to the growth and proliferation of transformed normal cells. Recent evidence suggests that the nature of oncogenic stress and the state of the cell of origin critically affect both tumorigenic activity and tumor histological type. However, this mechanistic relationship in mesenchymal tumors is currently largely unexplored. To clarify these issues, we established a mouse osteosarcoma (OS) model through overexpression of c-MYC in bone marrow stromal cells (BMSCs) derived from Ink4a/Arf (-/-) mice. Single-cell cloning revealed that c-MYC-expressing BMSCs are composed of two distinctly different clones: highly tumorigenic cells, similar to bipotent-committed osteochondral progenitor cells, and low-tumorigenic tripotent cells, similar to mesenchymal stem cells (MSCs). It is noteworthy that both bipotent and tripotent cells were capable of generating histologically similar, lethal OS, suggesting that both committed progenitor cells and MSCs can become OS cells of origin. Shifting mesenchymal differentiation by depleting PPARγ in tripotent MSC-like cells and overexpressing PPARγ in bipotent cells affected cell proliferation and tumorigenic activity. Our findings indicate that differentiation potential has a key role in OS tumorigenic activity, and that the suppression of adipogenic ability is a critical factor for the development of OS.

Molecular cloning of ubiquitin-activating enzyme (E1) from Xenopus laevis.

The Xenopus homologue to the ubiquitin-activating enzyme (E1) from a Xenopus ovary is described. The deduced amino acid sequence is highly homologous to E1 from other species.

Localization of HPC-1/syntaxin 1 in developing rat cerebellar cortex.

In adult rat cerebellum, HPC-1/syntaxin 1 is detected at high density on the plasma membrane of the non-synaptic region of parallel fibers in addition to the synaptic terminal membranes and the synaptic vesicles (Koh, S., Yamamoto, A., Inoue, A., Inoue, Y., Akagawa, Y., Kawamura, Y., Kawamoto, Y., and Tashiro, Y. (1993). J. Neurocytology 22: 995-1005). To assess the possibility that HPC-1/syntaxin 1 participates in the morphogenesis of the nervous system, we examined changes in the localization of HPC-1/syntaxin 1 during postnatal development of the molecular layer of the rat cerebellum. HPC-1/syntaxin 1 appeared in the granule cells in the outer granule cell layer in 3-days-old rat cerebellum when the formation of synapses and the appearance of a synaptic vesicle protein, synaptophysin, had not yet been observed in the molecular layer. At this stage, the granule cells began to form parallel fibers. Confocal laser microscopy and immuno-electron microscopy showed that HPC-1/syntaxin 1 was localized on the extruding plasma membrane of the granule cells to form parallel fibers. In 8-days-old rats, synapses formed between the parallel fibers and the developing dendrites of Purkinje cells, and the HPC-1 immunoreactivity appeared on the axons of parallel fibers and on the synapses. In 21-days-old rats, the HPC-1/syntaxin is involved in the formation of the molecular layer, especially in the axonal growth of the parallel fibers.

[Treatment of arteriovenous fistula in the skull base; a case of von Recklinghausen's disease].

We presented a case of neurofibromatosis associated with intractable arteriovenous fistula of the internal carotid artery in the skull base. A 41-year-old man presenting dyspnea and neck swelling was treated with balloon occlusion for arteriovenous fistula. This was followed by its total removal. At operation, we found that arteriovenous fistula was formed by the invasion of the internal carotid arterial wall of a neurofibroma in the skull base, which had been induced by neurofibromatosis. This is a rare case corresponding to vascular neurofibromatosis in the internal carotid artery.

Fibronectin in severe sepsis.

Fibronectin was given in the form of cryoprecipitate of human plasma to patients with severe surgical sepsis in a double blind, prospective and randomized clinical study. Of the 19 patients assigned to the control group receiving no fibronectin, only eight (42 per cent) survived. Of the 12 patients given the cryoprecipitate, nine survived (75 per cent) (p less than 0.05). In the control group, initial serum fibronectin levels were depressed to 121 micrograms per milliliter (normal = 313). The mean values in the blank plasma controls did not increase after 24 hours, with a mean of 122. In contrast, the group treated with cryoprecipitate increased serum fibronectin values after 24 hours to 216 micrograms per milliliter, up from initial values of 161 micrograms per milliliters. Improvements in pulmonary function, serum bilirubin and serum creatinine values were also noted, but the changes fell short of statistical significance. Fibronectin appears to benefit patients in severe surgical sepsis in this study of a relatively small number of patients.

Intrapartum fetomaternal bleeding in Rh-negative women.

In a series of 1206 consecutive Rh-negative women who delivered Rh-positive infants, fetal erythrocytes were found in the maternal blood of 175 (14.5%) during the postpartum period. In 12 (1.0%) there was evidence of a larger fetomaternal hamorrhage than would be neutralized by a single 300-microgram dose of Rh-immune globulin. Except for manual removal of the placenta, no correlation was found between large fetomaternal hemorrhages and obstetric manipulations, complications, or surgery. Thus, the authors believe that all Rh-negative patients should be screened post partum to ascertain the adequacy of Rh-immune globulin prophylaxis.