Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous ...tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.
ABSTRACT We present a study of the composition of gas and dust in the Large and Small Magellanic Clouds (LMC and SMC) using UV absorption spectroscopy. We measure P ii and Fe ii along 84 spatially ...distributed sightlines toward the MCs using archival Far Ultraviolet Spectroscopic Explorer observations. For 16 of those sightlines, we also measure Si ii, Cr ii, and Zn ii from new Hubble Space Telescope Cosmic Origins Spectrograph observations. We analyze these spectra using a new spectral line analysis technique based on a semi-parametric Voigt profile model. We have combined these measurements with H i and H2 column densities and reference stellar abundances from the literature to derive gas-phase abundances, depletions, and gas-to-dust ratios (GDRs). Of our 84 P and 16 Zn measurements, 80 and 13, respectively, are depleted by more than 0.1 dex, suggesting that P and Zn abundances are not accurate metallicity indicators at and above the metallicity of the SMC. Si, Cr, and Fe are systematically less depleted in the SMC than in the Milky Way (MW) or LMC. The minimum Si depletion in the SMC is consistent with zero. We find GDR ranges of 190-565 in the LMC and 480-2100 in the SMC, which is broadly consistent with GDRs from the literature. These ranges represent actual location to location variation and are evidence of dust destruction and/or growth in the diffuse neutral phase of the interstellar medium. Where they overlap in metallicity, the gas-phase abundances of the MW, LMC, and SMC and damped Ly systems evolve similarly with metallicity.
Black men who have sex with men (MSM) engaged in sex work (BMSM-SW) experience elevated HIV and sexually transmitted infection (STI) prevalence. Further, BMSM-SW have been shown to have higher rates ...of syndemic psychosocial health conditions which contribute to HIV risk behavior and incidence, and poorer care outcomes than other groups of men who have sex with men. However, syndemic perspectives have not been applied to understanding past-year STI burden among BMSM-SW in the U.S. Sexually active Black MSM ≥ 18 years old were recruited from Black Pride events in six U.S. cities (
n
= 4421) between 2014 and 2017. Multivariable logistic regressions assessed correlates of past-year sex work engagement; whether BMSM-SW had higher odds of syndemic conditions; and whether BMSM-SW had higher odds of self-reported, past-year STI diagnoses. Structural equation models assessed relationships between sex work engagement, syndemic conditions, and STI controlled for sociodemographics and number of sexual partners. A total of 254 (5.7%) Black MSM reported past-year sex work, of whom 45.3% were HIV positive. BMSM-SW were significantly more likely to be Hispanic, to report past-year bisexual behavior, and to report annual income < $10,000. In multivariable models, BMSM-SW were significantly more likely to report intimate partner violence, assault victimization, polydrug use, and depression symptoms; they were also more likely to report past-year gonorrhea, chlamydia, and syphilis. Syndemic conditions mediated the relationship between past-year sex work and past-year STI burden, constituting a significant indirect effect. BMSM-SW in the U.S. face severe biopsychosocial health disparities. Interventions developed for BMSM engaged in sex work are lacking. Our results suggest that interventions containing safer sex work education and sex-positive biobehavioral HIV/STI prevention alongside substance use, mental health, employment, and education components will be most effective.
A scalable platform to synthesize ultrathin heavy metals may enable high-efficiency charge-to-spin conversion for next-generation spintronics. Here, we report the synthesis of air-stable, epitaxially ...registered monolayer Pb underneath graphene on SiC (0001) by confinement heteroepitaxy (CHet). Diffraction, spectroscopy, and microscopy reveal that CHet-based Pb intercalation predominantly exhibits a mottled hexagonal superstructure due to an ordered network of Frenkel-Kontorova-like domain walls. The system's air stability enables ex situ spin torque ferromagnetic resonance (ST-FMR) measurements that demonstrate charge-to-spin conversion in graphene/Pb/ferromagnet heterostructures with a 1.5× increase in the effective field ratio compared to control samples.A scalable platform to synthesize ultrathin heavy metals may enable high-efficiency charge-to-spin conversion for next-generation spintronics. Here, we report the synthesis of air-stable, epitaxially registered monolayer Pb underneath graphene on SiC (0001) by confinement heteroepitaxy (CHet). Diffraction, spectroscopy, and microscopy reveal that CHet-based Pb intercalation predominantly exhibits a mottled hexagonal superstructure due to an ordered network of Frenkel-Kontorova-like domain walls. The system's air stability enables ex situ spin torque ferromagnetic resonance (ST-FMR) measurements that demonstrate charge-to-spin conversion in graphene/Pb/ferromagnet heterostructures with a 1.5× increase in the effective field ratio compared to control samples.
Lymphedema is a serious complication of axillary lymph node dissection (ALND) with an incidence rate of 20%. Simplified Lymphatic Microsurgical Preventing Healing Approach (SLYMPHA) is a safe and ...relatively simple method, which decreases incidence of lymphedema dramatically. Our initial study showed an 88% decrease in clinical lymphedema rate. In the initial study, we used arm circumference measurement for the diagnosis of lymphedema and median follow up was 15 months. The aim of this study was to confirm these results after a long-term follow up period and by using bioimpedance spectroscopy (L-Dex) technology in detecting lymphedema.
All patients, undergoing ALND with or without SLYMPHA between January 2014 and November 2020 were included in the study. Patients with no postoperative L-Dex measurements were excluded. A L-Dex score outside the normal range (±10 L-Dex unit) or ≥10 L-Dex unit increase above patient's baseline was considered as lymphedema. The incidence of lymphedema was compared between patients with and without SLYMPHA.
194 patients were included in the study. 57% of cohort underwent SLYMPHA. Mean follow-up time was 47 ± 37 months. Patients, who underwent SLYMPHA, had a significantly lower rate of lymphedema (16% vs 32%; p = 0.01; OR 0.4 0.2–0.8).
SLYMPHA is a safe and relatively simple method, which continued its efficacy after a long-term follow up period. It should be considered as an adjunct procedure to ALND for all patients during initial surgery.
Accessory breast tissue is a rare aberration of normal breast development, that presents most commonly in the axilla. Similar to normal breast tissue, it can undergo physiologic and pathologic ...changes, including malignant transformation. We report a rare case of accessory breast cancer, treated with surgical resection and axillary reverse mapping (ARM), and review current literature focusing on management. We report a 68-year-old female with a history of left breast cancer treated with lumpectomy and axillary dissection, who later developed in-breast recurrence treated with re-lumpectomy and sentinel node biopsy which mapped at the contralateral (right) axilla, but was negative. Two years later screening imaging revealed right axillary tail focal asymmetry with two spiculated masses. Core biopsy showed invasive ductal carcinoma (IDC), and histologic examination of the biopsy could not determine whether this represents a new primary breast cancer or axillary metastasis from the contralateral site. She underwent lumpectomy of the two masses and sentinel node biopsy. During surgery, the masses were identified in the axilla itself, rather than the axillary tail. Final pathology revealed IDC, pT1N0(sn), and extensive ductal carcinoma
(DCIS). Due to positive margins, she underwent re-lumpectomy with ARM. Final pathology revealed residual DCIS with negative new margins. The patient was referred for adjuvant radiotherapy. Accessory axillary breast tissue can be confused with axillary tail tissue. It is necessary for the surgeon to distinguish between them by meticulous physical examination and radiologic evaluation, as resection of axillary breast tissue may warrant reverse lymphatic mapping for lymphedema prevention.
Although transcranial magnetic stimulation (TMS) is a popular tool for both basic research and clinical applications, its actions on nerve cells are only partially understood. We have previously ...predicted, using compartmental modeling, that magnetic stimulation of central nervous system neurons depolarized the soma followed by initiation of an action potential in the initial segment of the axon. The simulations also predict that neurons with low current threshold are more susceptible to magnetic stimulation. Here we tested these theoretical predictions by combining in vitro patch-clamp recordings from rat brain slices with magnetic stimulation and compartmental modeling. In agreement with the modeling, our recordings demonstrate the dependence of magnetic stimulation-triggered action potentials on the type and state of the neuron and its orientation within the magnetic field. Our results suggest that the observed effects of TMS are deeply rooted in the biophysical properties of single neurons in the central nervous system and provide a framework both for interpreting existing TMS data and developing new simulation-based tools and therapies.
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