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08:15 EDT 23rd June 2018 | BioPortfolio

The US National Library of Medicine and National Institutes of Health manage PubMed.gov which comprises of more than 21 million records, papers, reports for biomedical literature, including MEDLINE, life science and medical journals, articles, reviews, reports and  books.  BioPortfolio aims to publish relevant information on published papers, clinical trials and news associated with users selected topics.

For example view all recent relevant publications on Epigenetics and associated publications and clincial trials.

Showing PubMed Articles 1–25 of 1,000,000+

DeSanto-Shinawi Syndrome: First Case in South America.

Pathogenic variants in are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic fac...

A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient.

Keutel syndrome is caused by mutations in the matrix gamma-carboxyglutamic acid () gene (OMIM 154870) and is inherited in an autosomal recessive fashion. It is characterized by brachydactyly, pulmonary artery stenosis, a distinctive facial phenotype, and cartilage calcification. To date, only 36 cases have been reported worldwide. We describe clinical and molecular findings of the first Brazilian patient with Keutel syndrome. Keutel syndrome was suspected based on clinical and morphological evaluation, so w...

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of , who presented with EA and a proximal deletion phenotype. This finding suggests that loss i...

Hepatic Pseudolymphoma with Fluorodeoxyglucose Uptake on Positron Emission Tomography.

A 69-year-old woman with chronic hepatitis B was admitted to our hospital with a hepatic tumor. The levels of 2 tumor markers, carcinoembryonic antigen and carbohydrate antigen 19-9, were slightly elevated; however, the α-fetoprotein and protein levels induced by vitamin K antagonist II were within the normal limits. Abdominal ultrasonography showed a well-defined peripheral hypoechoic mass that was isoechoic and homogeneous on the inside. Computed tomography showed a poorly enhanced tumor of 13 mm in diam...

Autoimmune Ascites Responding to Mycophenolate Mofetil: A Case Report.

Ascites is an abnormal accumulation of fluid within the peritoneal cavity. The most common cause of ascites in the United States population is portal hypertension secondary to cirrhosis, accounting for about 80% of the cases. Other etiologies include malignancy, heart failure, tuberculosis, and pancreatic disease. After an extensive literature review, it is to our best knowledge that there have been no cases reported on autoimmune ascites. We present an interesting case of ascites in a 67-year-old Caucasian...

Hypothermia-Related Acute Pancreatitis.

Acute pancreatitis (AP) is an inflammatory disease presenting from mild localized inflammation to severe infected necrotic pancreatic tissue. In the literature, there are a few cases of hypothermia-induced AP. However, the association between hypothermia and AP is still a myth. Generally, mortality from acute pancreatitis is nearly 3-6%. Here, we present a 40-year-old chronic alcoholic female who presented with acute pancreatitis induced by transient hypothermia. A 40-year-old chronic alcoholic female was h...

: A Startling Discovery during Screening Colonoscopy.

Intestinal parasitic infections are a major public health issue across the world and particularly in rural and urban areas of tropical and subtropical countries. Those at increased risk include inhabitants of poor and disadvantaged regions, which are more likely to have inadequate environmental sanitation, insufficient water supply, greater contact rates with reservoirs of infection, limited health literacy, and socioeconomic disparities. Of the intestinal nematodes (roundworms) that parasitize the human ga...

Rare Incidence of Acute Liver Injury with Potassium Para-Aminobenzoate Introduction.

Acute liver injury is an alarming condition, as it may lead to a devastating outcome. Of the many causes of acute liver injury, review of medications is crucial to identifying the cause of the injury. Some commonly used medications may unpredictably be the underlying cause of liver injury. We present a case of Peyronie's disease treated with potassium para-aminobenzoate that developed acute liver injury. After starting the new treatment, the patient complained of right upper quadrant pain. He was found to h...

Esophageal Large-Cell Neuroendocrine Carcinoma with Inconsistent Response to Treatment in the Primary and Metastatic Lesions.

Esophageal large-cell neuroendocrine carcinoma (NEC) is a rare malignant tumor that is characterized by high-grade malignancy and a poor prognosis. However, the rarity of esophageal NEC has prevented the development of an established treatment, and no reports have described a discrepancy in the effectiveness of cisplatin plus irinotecan between primary and metastatic lesions. A 43-year-old Japanese man was referred to our hospital with refractory epigastralgia. A previous gastrointestinal endoscopy had reve...

Mitochondria and Mood: Mitochondrial Dysfunction as a Key Player in the Manifestation of Depression.

Human and animal studies suggest an intriguing link between mitochondrial diseases and depression. Although depression has historically been linked to alterations in monoaminergic pharmacology and adult hippocampal neurogenesis, new data increasingly implicate broader forms of dampened plasticity, including plasticity within the cell. Mitochondria are the cellular powerhouse of eukaryotic cells, and they also regulate brain function through oxidative stress and apoptosis. In this paper, we make the case tha...

Commentary: Locus Coeruleus Ablation Exacerbates Cognitive Deficits, Neuropathology, and Lethality in P301S Tau Transgenic Mice.

Cerebellar Kainate Receptor-Mediated Facilitation of Glutamate Release Requires Ca-Calmodulin and PKA.

We elucidated the mechanisms underlying the kainate receptor (KAR)-mediated facilitatory modulation of synaptic transmission in the cerebellum. In cerebellar slices, KA (3 μM) increased the amplitude of evoked excitatory postsynaptic currents (eEPSCs) at synapses between axon terminals of parallel fibers (PF) and Purkinje neurons. KA-mediated facilitation was antagonized by NBQX under condition where AMPA receptors were previously antagonized. Inhibition of protein kinase A (PKA) suppressed the effect of K...

Physical Biology of Axonal Damage.

Excessive physical impacts to the head have direct implications on the structural integrity at the axonal level. Increasing evidence suggests that tau, an intrinsically disordered protein that stabilizes axonal microtubules, plays a critical role in the physical biology of axonal injury. However, the precise mechanisms of axonal damage remain incompletely understood. Here we propose a biophysical model of the axon to correlate the dynamic behavior of individual tau proteins under external physical forces to...

Abnormal Serotonin Levels During Perinatal Development Lead to Behavioral Deficits in Adulthood.

Serotonin (5-HT) is one of the best-studied modulatory neurotransmitters with ubiquitous presynaptic release and postsynaptic reception. 5-HT has been implicated in a wide variety of brain functions, ranging from autonomic regulation, sensory perception, feeding and motor function to emotional regulation and cognition. The role of this neuromodulator in neuropsychiatric diseases is unquestionable with important neuropsychiatric medications, e.g., most antidepressants, targeting this system. Importantly, 5-H...

Training in Temporal Information Processing Ameliorates Phonetic Identification.

Many studies revealed a link between temporal information processing (TIP) in a millisecond range and speech perception. Previous studies indicated a dysfunction in TIP accompanied by deficient phonemic hearing in children with specific language impairment (SLI). In this study we concentrate in SLI on phonetic identification, using the voice-onset-time (VOT) phenomenon in which TIP is built-in. VOT is crucial for speech perception, as stop consonants (like /t/ vs. /d/) may be distinguished by an acoustic di...

Comparison of Four Control Methods for a Five-Choice Assistive Technology.

Severe motor impairments can affect the ability to communicate. The ability to see has a decisive influence on the augmentative and alternative communication (AAC) systems available to the user. To better understand the initial impressions users have of AAC systems we asked naïve healthy participants to compare two visual (a visual P300 brain-computer interface (BCI) and an eye-tracker) and two non-visual systems (an auditory and a tactile P300 BCI). Eleven healthy participants performed 20 selections in a...

Inhibiting Basal Ganglia Regions Reduces Syllable Sequencing Errors in Parkinson's Disease: A Computer Simulation Study.

Parkinson's disease affects many motor processes including speech. Besides drug treatment, deep brain stimulation (DBS) in the subthalamic nucleus (STN) and globus pallidus internus (GPi) has developed as an effective therapy. We present a neural model that simulates a syllable repetition task and evaluate its performance when varying the level of dopamine in the striatum, and the level of activity reduction in the STN or GPi. The Neural Engineering Framework (NEF) is used to build a model of syllable seq...

Toward Shared Working Space of Human and Robotic Agents Through Dipole Flow Field for Dependable Path Planning.

Recent industrial developments in autonomous systems, or agents, which assume that humans and the agents share the same space or even work in close proximity, open for new challenges in robotics, especially in motion planning and control. In these settings, the control system should be able to provide these agents a reliable path following control when they are working in a group or in collaboration with one or several humans in complex and dynamic environments. In such scenarios, these agents are not only ...

Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo.

Porphyria cutanea tarda (PCT) is a cutaneous porphyria that presents later in life with cutaneous findings in sun-exposed sites. We report a complex case of PCT in a 67-year-old woman with an unusual constellation of cutaneous findings: scleroderma, acquired ichthyosis, and nonscarring alopecia. Possible triggers for her PCT include tamoxifen treatment for breast cancer and carrier status of the hemochromatosis gene. High-dose chloroquine was used to successfully achieve clinical remission and normalize her...

Chronic Prurigo: An Unusual Presentation of Hodgkin Lymphoma.

Prurigo nodularis is a condition of unknown origin defined by papulonodular eruption and intense pruritus. Hodgkin lymphoma often presents nonspecific initial symptoms. An association between systemic malignancy and cutaneous manifestations has long been documented. We report a case of prurigo nodularis as a first presentation of Hodgkin lymphoma.

Efficacy and Tolerability of Topical Green Tea Extract (Polyphenon E) Application in a "Therapy-Resistant" Plantar Wart.

Plantar warts account for 30% of all cutaneous warts. These lesions could be very painful, especially if the lesion is located over pressure sites such as the metatarsal head. Plantar wart treatment remains a challenging therapeutic problem. A 67-year-old immunocompetent nonsmoking man presented with a large mosaic plantar wart on his right foot. The lesion had been present for 5 years. Several cryotherapy sessions (a total of 6 procedures) had been performed with no success. The lesion was therefore treate...

Basal Cell Carcinoma Mimicking Desmoplastic Trichoepithelioma: A Case with Correlation of Dermoscopy and Histology.

Basal cell carcinoma (BCC) is the most common cancer in humans worldwide. Many highly specific dermoscopic criteria for BCC are well established in the literature. On the contrary, other malignant or benign skin tumors may mimic BCC by exhibiting similar or even the same dermoscopic features and therefore obscuring the diagnosis of BCC in certain situations. We herein report a case of BCC with dermoscopic features of both BCC and desmoplastic trichoepithelioma (DT). We would like to remind of the often negl...

Nevus Lipomatosis Cutaneous Superficialis: A Single-Center Case Series of 5 Patients.

Nevus lipomatosis cutaneous superficialis (NLCS) is a rare hamartoma of mature adipose tissue characterized by solitary or multiple, soft, skin-colored or yellowish lobules that may coalesce to give rise to plaques with a cerebriform surface. There are two clinical types: (1) multiple lesions that are usually presented in a segmental distribution and (2) a solitary papule or nodule.

Bullous Pemphigoid Associated with Adalimumab Therapy in a Patient with Ulcerative Colitis.

Bullous pemphigoid (BP) is a blistering autoimmune disease mainly observed in elderly patients. Several triggers are known for this autoimmune disease and some drugs are known to be a cause of BP. However, there are only few case reports on the induction of BP under adalimumab therapy. Other autoimmune diseases, such as lupus erythematosus, are also known to occur under TNF inhibition. Here, we report on an 81-year-old patient who received adalimumab for ulcerative colitis and subsequently developed BP. Oth...

Methotrexate-Associated Lymphoproliferative Disorder: Dermoscopic Features.

Methotrexate-related lymphoproliferative disorder (MTX-LPD) is a rare disorder caused by long-term MTX therapy for autoimmune diseases. There has been no report of the dermoscopic features of MTX-LPD to date. A 64-year-old female presented with a slightly elevated indurated erythematous plaque with scales on her right thigh. The patient had been treated for rheumatic arthritis with MTX and prednisolone for more than 15 years, and 18 mg/week MTX without prednisolone had been administered in the last year. De...


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