Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heterogeneity. Hence, an immense unmet need exists for ...

Objective. Research on how adolescents with type 2 diabetes mellitus (T2DM) understand and use social support is limited. Therefore, we explored how adolescents with T2DM experience and perceive social support. Methods. Adolescents with T2DM were interviewed, and data were qualitatively analyzed using Consensual Qualitative Research methodology. Results. Four themes emerged: ...

ABSTRACT: BACKGROUND: Following gene duplication, retained paralogs undergo functional divergence, which is reflected in changes in DNA sequence and expression patterns. The extent of divergence is influenced by several factors, including protein function. We examine whether an epigenetic modification, trimethylation of histone H3 at lysine 27 (H3K27me3), could be a ...

Using a forensic toxicology database, the authors investigated cases of driving under the influence of drugs (DUID) if methamphetamine (MA) was identified in the blood samples (N = 9,310). The concentrations of MA and amphetamine (AM) in blood were determined after liquid-liquid extraction by gas chromatography-mass spectrometry at limits of ...

In this study, an antisense luciferase-expressing human immunodeficiency virus type 1 (HIV-1) molecular clone was used to infect primary cells. We found that antisense transcription activity from the 3' long terminal repeat (LTR) was significantly more abundant in monocyte-derived cells than in activated T lymphocytes. Moreover, by analyzing antisense transcription ...

Hospital physicians care for most seriously ill patients in the United States. We employed dimensional analysis to describe communication about death and dying in audio-recorded admission encounters between seriously ill patients and hospitalists. Acknowledging or not acknowledging the possibility of dying emerged as a key process. Acknowledgment was rare, and ...

The intrinsic band-gap photoluminescence of semiconducting single-walled carbon nanotubes (SWNTs) makes them promising biological imaging probes in the second near-infrared (NIR-II, 1-1.4 μm) window. Thus far, SWNTs used for biological applications have been a complex mixture of metallic and semiconducting species with random chiralities, preventing simultaneous resonant excitation of all ...

Almost a decade ago Morton and Torgerson indicated that perceived medical benefits could be due to "regression to the mean." Despite this caution, the regression to the mean "effects on the identification of changes in institutional performance do not seem to have been considered previously in any depth" (Jones and ...

Insulin has long been hypothesized to cause sodium retention, potentially of enough magnitude to contribute to hypertension in obesity, metabolic syndrome, and Type II diabetes. There is an abundance of supportive evidence from correlational analyses in humans, acute insulin infusion studies in humans and animals, and chronic insulin infusion studies ...

The authors report a case of hyperekplexia presenting in the neonatal period resistant to clonazepam that responded subsequently to levetiracetam. Hyperekplexia is often misdiagnosed as epilepsy and can be difficult to manage with a particular concern over neonatal apnea and an increased risk of sudden infant death syndrome. The mainstay ...

ABSTRACT: Earlier reports of chromosome 9p-linked frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS) kindreds observed psychosis as a prominent feature in some patients. Since the discovery of chromosome 9 open reading frame 72 (C9orf72) hexanucleotide expansions as a cause of FTD and ALS, research groups and consortia around the ...

Perception involves motor control of sensory organs. However, the dynamics underlying emergence of perception from motor-sensory interactions are not yet known. Two extreme possibilities are as follows: (1) motor and sensory signals interact within an open-loop scheme in which motor signals determine sensory sampling but are not affected by sensory ...

The adeno-associated virus (AAV) genome can be stably integrated into the AAVS1 region of human chromosome 19 (19q13.4-qter) with the assistance of Rep68/78 protein. In the current models of AAV integration in a locus-specific manner, the foreign genes were randomly inserted into the AAVS1 region, which contains several functional genes. ...

PURPOSE: To evaluate the cerebral spinal fluid (CSF) partial volume effect on diffusional kurtosis imaging (DKI) metrics in white matter and cortical gray matter. MATERIALS AND METHODS: Four healthy volunteers participated in this study. Standard DKI and fluid-attenuated inversion recovery (FLAIR) DKI experiments were performed using a twice-refocused-spin-echo diffusion sequence. ...

To improve the quality of reporting of randomized clinical trials (RCTs), international registries for RCTs and guidelines for primary endpoint (PEP) analysis were established. The objectives of this systematic review were to evaluate concordance of PEP between publication and the corresponding registry and to assess the intrapublication consistency in PEP ...

Interleukin-1β (IL-1β) is involved in mood alterations associated with inflammatory illnesses and with stress. The synaptic basis of IL-1β-induced emotional disturbances is still unknown. To address the possible involvement of the endocannabinoid system in IL-1β-induced anxiety, we performed behavioral and neurophysiological studies in mice exposed to stress or to intracerebroventricular ...

To evaluate the relationship of striatal involvement in Huntington disease (HD) to involvement in other brain regions, CAG repeat size, onset age, and other factors. We examined patterns of neuropathologic involvement in 664 HD brains submitted to the Harvard Brain Tissue Resource Center. Brains with concomitant Alzheimer or Parkinson changes ...

Adenoid cystic carcinoma is an uncommon malignant tumor of epithelial origin typically arising from salivary glands. Orbital involvement may occur via direct or perineural spread from a lacrimal gland or sinonasal source. Primary orbital adenoid cystic carcinoma without involvement of the lacrimal gland is rare. The authors report a 53-year-old ...

Curcumin is the principal curcuminoid of the popular Indian spice turmeric and has attracted increasing attention for the treatment of a range of conditions. Research into its potential as a treatment for depression is still in its infancy, although several potential antidepressant mechanisms of action have been identified. Research completed ...

Preeclampsia affects 5-8% of pregnancies and is the leading worldwide cause of maternal and fetal morbidity and mortality. It is known that preeclampsia is associated with shallow trophoblast invasion and inadequate spiral artery remodeling, which are widely believed to lead to placental hypoxia, the putative culprit initiating the cascade of ...

BACKGROUND: Limited evidence from human and animal studies has suggested that vitamin K has a potentially beneficial role in glucose metabolism and insulin resistance. OBJECTIVE: We analyzed the cross-sectional and longitudinal associations between dietary phylloquinone intake and type 2 diabetes in elderly subjects at high cardiovascular risk. DESIGN: Cross-sectional associations ...

Whole-cell patch-clamp recordings and high-resolution 3D morphometric analyses of layer 3 pyramidal neurons in in vitro slices of monkey primary visual cortex (V1) and dorsolateral granular prefrontal cortex (dlPFC) revealed that neurons in these two brain areas possess highly distinctive structural and functional properties. Area V1 pyramidal neurons are much ...

Simultaneous tracking of many thousands of individual particles in live cells is possible now with the advent of high-density superresolution imaging methods. We present an approach to extract local biophysical properties of cell-particle interaction from such newly acquired large collection of data. Because classical methods do not keep the spatial ...

We conducted a qualitative study to understand user perceptions, acceptability and engagement with an interactive SMS reminder system designed to improve treatment adherence for patients with tuberculosis (TB). Patients received daily reminders and were asked to respond after taking their medication. Non-responsive patients were sent up to three reminders a ...

BACKGROUND: In T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL), activating mutations of NOTCH1 are observed in more than 50% of cases, whereas the t(7;9)(q34;q34) involving NOTCH1 at 9q34 and TRB@ at 7q34 is an extremely rare but recurrent translocation. PATIENT: A 41-year-old male with a large mediastinal mass, pleural effusion, and lymphadenopathy ...

BACKGROUND: Alloimmunization to antigens on transfused red blood cells (RBCs) represents a major barrier to chronic transfusion. In extreme cases of multiple alloimmunization, clinicians may be faced with the decision of transfusing incompatible RBCs or risking death from lack of transfusion. The disastrous results of hemolytic transfusion reactions are well ...

A recent study showed that spectral correlation cannot be considered as a reliable method for spot purity of thin-layer chromatography (TLC). The current paper discusses limitations of possible chemometric techniques performed on diode-array detection or multiwavelength densitograms of spots. The primary difference between high-performance liquid chromatography and TLC is the ...

The molecular structures of third-row main group tricarbides C(3)X (X = K-Br) have been studied by quantum chemical methods. It is found that less electronegative elements (K, Ca, Ga, Ge) favor either fan or rhombic structures (resulting from side interactions with either linear or triangular C(3) units), whereas the more ...

BACKGROUND: Lesbian and bisexual women may be at greater risk of breast cancer than heterosexual women during the premenopausal period due to disparities in risk factors. METHODS: With 16 years of prospective data from a large cohort of U.S. women ages 25-58 years, we conducted a breast cancer risk assessment ...

ABSTRACT: BACKGROUND: Experimentally, erythropoietin (EPO) has nephroprotective as well as immunomodulatory properties when administered after ischemic renal injury. We tested the hypothesis that different doses of recombinant human EPO administered to patients after cardiac surgery would minimize kidney lesions and the systemic inflammatory response, thereby decreasing acute kidney injury (AKI) ...

In recent years, studies have shown that reproductive effort decelerates in response to pathogenic infection. If infection substantially reduces a host's residual reproductive value (RRV), however, then an acceleration of effort may instead occur (e.g. terminal investment). Reproductive acceleration would theoretically allow hosts to maintain or exaggerate their sexual signal ...

Toll-like receptor 3 (TLR3) plays a critical role in initiating type I IFN-mediated innate immunity against viral infections. TLR3 recognizes various forms of double stranded (ds) RNA, including viral dsRNA and a synthetic mimic of dsRNA, poly I:C, which has been used extensively as a TLR3 ligand to induce antiviral ...

Background: Prompt entry into care and retention in care are critical for improving outcomes among HIV-infected individuals. This study identified factors associated with HIV-infected adolescents who delayed entry into HIV care (DEC) after diagnosis of HIV or who fail to remain in care afterward (FRC). Methods: We reviewed clinical, demographic, ...

SUMMARY New anti-HCV therapeutics developed recently are more effective and lead to improvements in sustained viral response. However, interferon mono-therapy is still used to a limited extent for fear of adverse effects. We investigated host genetic factors affecting interferon response in patients with chronic hepatitis C. Using a two-step design, ...

Among the criticisms of multiple-choice tests is that-by exposing the correct answer as one of the alternatives-such tests engage recognition processes rather than the productive retrieval processes known to enhance later recall. We tested whether multiple-choice tests could trigger productive retrieval processes-provided the alternatives were made plausible enough to enable ...

The symptoms of Parkinson's disease (PD) are related to changes in the frequency and pattern of activity in the reciprocally connected GABAergic external globus pallidus (GPe) and glutamatergic subthalamic nucleus (STN). In idiopathic and experimental PD, the GPe and STN exhibit hypoactivity and hyperactivity, respectively, and abnormal synchronous rhythmic burst ...

Episodic memory loss is a defining feature of early-stage Alzheimer's disease (AD). A test of episodic-like memory for the rat, the What-Where-Which occasion task (WWWhich), requires the association of object, location, and contextual information to form an integrated memory for an event. The WWWhich task cannot be solved by use ...

Background Intraoperative navigation is an important tool used during endonasal surgery, which typically requires rigid head fixation. Herein we describe a navigational technique using an autoregistration mask without head fixation.Material and Methods Prospective evaluation of a surface autoregistration mask used without rigid head fixation in 12 consecutive endonasal endoscopic skull base procedures ...

BACKGROUND: Peripheral blood stem cells (PBSCs) are the preferred source in autologous transplantation. We assessed prospectively the efficacy of mobilization in pediatric patients and risk factors associated with its failure. STUDY DESIGN AND METHODS: Patients, aged 0 to 17 years, needing a first collection of PBSCs for autologous stem cell ...

Venous thromboembolism (VTE) is a serious and potentially fatal medical condition. Correct diagnosis and early treatment of VTE with anticoagulant drugs are critical steps in preventing further complications and recurrence. Evidence suggests that patients with suspected deep vein thrombosis (DVT) or pulmonary embolism (PE) should be managed with a diagnostic ...

Sorafenib and sunitinib are oral tyrosine kinase inhibitors, commonly used in the treatment of metastatic renal cell carcinoma. Known adverse events associated with tyrosine kinase inhibitors include hypertension and palmarplantar erythrodysesthesia. We report two cases of acute pancreatitis associated with tyrosine kinase inhibitors.

Malaria remains as one of the major killers of humankind and persists to threaten the lives of more than one-third of the world's population. Given that human malaria can now be caused by five species of Plasmodium, i.e., Plasmodium falciparum, Plasmodium vivax, Plasmodium malariae, Plasmodium ovale, and the recent inclusion ...

Gβγ interaction with GlyR is an important determinant in ethanol potentiation of this channel. A small peptide, RQH(C7), can inhibit ethanol potentiation of GlyR currents. Results with RQH(C7) indicate that ethanol mediated potentiation of GlyR is in part by Gβγ activation. Molecular interaction between Gβγ and GlyR could be used ...

Symptomatic atherosclerotic intracranial arterial stenosis is a common etiologic mechanism of ischemic stroke. Patients with intracranial arterial stenosis carry a high risk of recurrent stroke that persists even with aggressive preventive measures.(1) The growing popularity of endovascular interventions for intracranial arterial stenosis, such as percutaneous transluminal angioplasty and stenting (PTAS), ...

ABSTRACT: Mesothelin, a secreted protein, is overexpressed in some cancers, including pancreatic cancer. Rescent studies have shown that overexpression of mesothelin significantly increased tumor cell proliferation, and downregulation of mesothelin inhibited cell proliferation in pancreatic cancer cells, but its exact function and mechanism remains unclear. The aim of the present ...

Nocturia is a prevalent highly bothersome urinary symptom that may significantly detriment the health and wellbeing of sufferers. It is characterized by waking at night to void, each void preceded and followed by sleep, hence leads to fragmentation of sleep and day time tiredness. This may result in reduced productivity ...

BACKGROUND: In the field of nutritional epidemiology, principal component analysis (PCA) has been used to derive patterns, but the robustness of interpretation might be an issue when the sample size is small. The authors proposed the alternative use of confirmatory factor analysis (CFA) to define such patterns. OBJECTIVE: The aim ...

Objectıve We present the extremely rare case of sacral osteomyelitis due to an anterior sacral meningocele (ASM) with fistula to the skin. We also discuss the case's clinical significance and the importance of imaging in diagnosis.Methods A 28-year-old female patient was referred to our clinic due to back and hip pain, erythema, ...

BACKGROUND: Laparoscopic and robotic gastrectomy have been adopted rapidly despite lack of evidence concerning technical safety and controversy regarding additional benefits. This study aimed to compare clinically relevant complications after open, laparoscopic and robotic gastrectomy. METHODS: This was a retrospective analysis of prospectively collected data on surgical complications in patients ...

BACKGROUND AND OBJECTIVE: The aim of this study was to measure melatonin levels in the gingival crevicular fluid and saliva of subjects with healthy periodontal tissues, plaque-induced gingival inflammation, chronic periodontitis and aggressive periodontitis. MATERIAL AND METHODS: A total of 70 subjects were examined and assigned to four groups: healthy ...