anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
This project investigates the clinical manifestations and molecular genetic defects of Smith-Magenis Syndrome (SMS), a rare (1/15,000 1/25,000) clinically recognizable yet often under diagnosed multiple congenital anomaly/intellectual disability (MCA/ID) syndrome (OMIM #182290). The syndrome is characterized by a distinct pattern of minor craniofacial and skeletal anomalies, expressive speech/language delays, psychomotor and growth retardation, and a striking neurobehavioral phenotype that includes a circadian sleep disorder. The majority of cases (\~90%) are due to de novo interstitial deletion of chromosome 17p11.2 that includes the RAI1 (retinoic acid induced 1) gene; however, heterozygous RAI1 mutations account for about 10% of cases. While clinical variability exists, haploinsufficiency of RAI1 (by deletion or mutation) is believed to be responsible for most of the common features that characterize the syndrome.

Individuals with confirmed or clinically suspected SMS, their parents, and/or unaffected siblings will be enrolled in this comprehensive longitudinal natural history study. An NIH interdisciplinary SMS Research Team (SMS-RT) of clinical and basic science researchers, in collaboration with extramural investigators, will conduct comprehensive clinical and molecular analyses to delineate the physiological, developmental (cognitive), behavioral, biochemical, and cellular processes that characterize the syndrome. The protocol aims to: characterize the phenotypic variability, natural history and underlying pathophysiology of SMS; delineate the neurobehavioral phenotype with respect to sleep disturbance, cognition, mood and maladaptive behaviors and sensory processing dysfunction; investigate the physiologic and functional aspects specifically underlying delays in speech/language and motor development; explore genotype/phenotype correlations to identify gene(s) or modifiers that contribute to phenotypic variability; determine potential intervention and therapeutic strategies likely to improve outcome; and evaluate the psychosocial impact of SMS on the family system. Offsite enrollment of two pediatric comparison groups to participate in the Home Assessment of Sleep (HAS) are also enrolled: 1) unaffected siblings/control group; and 2) a DD/ID-comparison group of children with developmental/intellectual disabilities associated with sleep disturbances.
The comparator patient group received individual therapy as motivational interviewing (MI) for 5 hourly sessions over 5 weeks, a total of five hours. The patients in the experimental group did not receive this.
The high prevalence of obesity has become a pressing global public health problem and there exists a strong association between increased BMI and mortality at a BMI of 25 kg/m2 or higher. The prevalence of obesity is higher among middle-aged adults than among younger groups and the combination of aging and obesity exacerbate systemic inflammation. Increased inflammatory cytokines such as interleukin 6 and tumor necrosis factor alpha (TNFα) are hallmarks of obesity, and promote the secretion of hepatic C-reactive protein (CRP) which further induces systematic inflammation. The neuropeptide oxytocin has been shown to have anti-obesity and anti-inflammation effects, and also suppress sweet-tasting carbohydrate consumption in mammals. Previously, we have shown that the Japanese herbal medicine Kamikihito (KKT), which is used to treat neuropsychological stress disorders in Japan, functions as an oxytocin receptors agonist. In the present study, we further investigated the effect of KKT on body weight (BW), food intake, inflammation, and sweet preferences in middle-aged obese mice. KKT oral administration for 12 days decreased the expression of pro-inflammatory cytokines in the liver, and the plasma CRP and TNFα levels in obese mice. The effect of KKT administration was found to be different between male and female mice. In the absence of sucrose, KKT administration decreased food intake only in male mice. However, while having access to a 30% sucrose solution, both BW and food intake was decreased by KKT administration in male and female mice; but sucrose intake was decreased in female mice alone. In addition, KKT administration decreased sucrose intake in oxytocin deficient lean mice, but not in the WT lean mice. The present study demonstrates that KKT ameliorates chronic inflammation, which is strongly associated with aging and obesity, and decreases food intake in male mice as well as sucrose intake in female mice; in an oxytocin receptor dependent manner.
Septorhinoplasty will be performed. At the termination of the procedure, prior to closure, fibrin sealant will be applied by the surgical assistant to the surgical site. Approximately 0.5 cc to 2 cc of tissue sealant will be applied. After closure, tape and cast will be applied and left in place for one week.
A randomized double-blind placebo controlled trial comparing the effect of a combined ketorolac and lidocaine paracervical block with a standard lidocaine paracervical block on procedure related pain with office hysteroscopies. Primary Objective: To study the effect of a combined ketorolac and lidocaine paracervical block on procedure related pain with office hysteroscopy. Secondary Objectives: To study the effect of a combined ketorolac and lidocaine paracervical block on patient satisfaction and post procedure pain. To assess for major adverse events with the use of a combined ketorolac and lidocaine paracervical block for office hysteroscopy when compared with a standard lidocaine paracervical block. Primary Endpoint: Pain on a 100 mm visual analogue scale during cervical dilation. Secondary Endpoints: Pain on a 100 mm visual analogue scale during the paracervical block, during the office hysteroscopy, immediately after the hysteroscopy, and 30 minutes after the procedure. Other secondary endpoints include patient satisfaction, frequency of procedure termination, and adverse events. Patients assigned female at birth, booked for office hysteroscopy at Mount Sinai Hospital faculty practice associates. Patients scheduled for office hysteroscopy through seeing a Gynecologist at either 5 E 98th Street Faculty Practice Associates or 1176 5th Avenue Gynecology Practice. 5 E 98th Street primarily cares for privately insured patients, while 1176 5th Avenue cares for a mix of privately insured as well as patients insured with Medicaid. Regardless of recruitment site, all office hysteroscopies will be performed at the 5 E 98th Street facility. A randomized controlled trial designed to investigate if ketorolac added to a paracervical block reduces procedure related pain. Patient will be randomized to a standard paracervical block versus a paracervical block with ketorolac added. The study will be conducted over two years. Patients will be followed for the duration of the two-year study period.
Myoclonus is a relatively rare involuntary movement that is often observed in palliative care settings and that can cause patient distress. The purpose of this study is to investigate the occurrence of myoclonus and countermeasures against it in terminally ill patients with cancer diagnosed by palliative care specialists at Komaki City Hospital, Japan. We retrospectively reviewed patients with terminal cancer who received palliative care consultations between January 2018 and May 2019 and who were diagnosed with myoclonus by palliative care specialists, using electronic medical records. Patient demographics, time from onset of myoclonus to death, daily opioid use, countermeasures, and outcome of myoclonus were assessed. Of 360 patients examined during this period, 45 (12.5%) were diagnosed with myoclonus. Median age was 71 (range, 43-88) years; median time from onset of myoclonus to death was 8 days (range, 0-56); opioid usage was present in 39 patients (morphine, oxycodone, and fentanyl: n = 6, 21, and 12, respectively); and median oral morphine equivalent at onset of myoclonus was 60 mg (range, 12-336 mg). Myoclonus treatment was administered to 21 patients (opioid dose reduction, opioid switching, and others: n = 14, 3, and 4, respectively). Myoclonus is a common complication in patients with terminal cancer.
Brain iron deposition is correlated with minimal hepatic encephalopathy (MHE). This study aimed to investigate the pattern of altered iron distribution, using quantitative susceptibility mapping (QSM), and to clarify the relationship between iron deposition and neurocognitive changes in MHE. We enrolled 32 cirrhotic patients without MHE (NHE), 21 cirrhotic patients with MHE, and 24 healthy controls, and used the Psychometric Hepatic Encephalopathy Score (PHES) to assess neurocognitive function. All participants underwent magnetic resonance scans with a gradient-echo sequence reconstructing for QSM. We performed voxel-wise and region-of-interest (ROI)-wise analyses to investigate the QSM difference across three groups and to examine the relationship between susceptibility value and PHES. MHE patients exhibited increased susceptibility value in widespread brain areas (family-wise error (FWE)-corrected P < 0.05), which was located mainly in cognition-related regions (such as the prefrontal lobe, precuneus, inferior parietal lobule, insula, thalamus, and superior longitudinal fasciculus), sensorimotor regions (such as the precentral/postcentral gyrus, superior parietal lobule, and posterior corona radiata), visual regions (such as the occipital cortex and posterior thalamic radiation), and auditory regions (such as the temporal lobe). NHE patients also followed a trend of increasing susceptibility in the scattered brain regions, but which did not reach statistical significance (FWE-corrected P > 0.05). We observed negative correlations between cirrhotic patients' PHES and regional susceptibility values (FWE-corrected P < 0.05). Brain iron accumulation (measured using QSM) contributes to cognitive impairments in MHE patients. QSM could provide new insights into the pathogenesis of MHE and facilitate monitoring disease development.
Patients of cancer, after their primary treatment are subsequently called for follow up visits to assess the disease status. This has two important implications from the point of view of resource management. One, patients often have to travel long distances to report to the hospital and have to take care of other logistics such as their accommodation, local travel and food. Further often the patient travels with 1-2 attendants which adds to the logistic burden. Also, these patients of follow up also contribute to the load on existing hospital services. Many authors have speculated that follow-up visits generate anxiety about possible disease recurrence. On the other hand, many others have suggested that although there may be a transient increase in anxiety, patients are ultimately reassured by this practice. Hence, there is no firm evidence for the practice and the need for follow up in oncology care.
After the tDCS outcome recorded immediately after tDCS treatment, participants will be categorized into responders and non-responders based on the percentage of change in the total SRS score (primary outcome). Participants that show reductions of at least 10% in the total SRS scores as compared to baseline scores will be considered responders.
This condition will integrate the standard of care and CBT4CBT interventions. The CBT4CBT is an 8-session (module) system for teaching with one module on the basics of buprenorphine and the other modules on the seven CBT core skills tailored around issues related to buprenorphine and OUD and other SUDs: (1) Introduction to functional analysis of substance use; (2) strategies for recognizing and coping with craving; (3) refusal skills and assertiveness; (4) training in problem-solving skills; (5) strategies for recognizing and changing thoughts; (6) decision-making skills; (7) how to use CBT skills to reduce HIV/ HCV risk. Each module takes 30 minutes to complete and has a format, which includes on-screen narration, animation, quizzes, and interactive exercises to teach and model effective use of skills. Modules end with a practice exercise.
OBJECTIVES: To investigate the pathological interplay between immunity and the visual processing system (VPS) in thyroid eye disease (TED).
METHODS: A total of 24 active patients (AP), 26 inactive patients (IP) of TED, and 27 healthy controls (HCs) were enrolled. Orbital magnetic resonance imaging (MRI) and resting-state functional MRI (rs-fMRI) were conducted for each participant. Multiple MRI parameters of the intraorbital optic nerve (ON) were assessed. The amplitude of low-frequency fluctuations (ALFF) and regional homogeneity (ReHo) were calculated. Correlation analyses were carried out on the above parameters and clinical characteristics.
RESULTS: Visual functioning scores differentiated between the AP and IP groups. The ON subarachnoid space and ON sheath diameter were significantly higher in AP than in IP. Six vision-related brain regions were identified in TED patients compared with HCs, including right calcarine (CAL.R), right cuneus (CUN.R), left postcentral gyrus (PoCG.L), right middle temporal gyrus (MTG.R), left superior frontal gyrus (SFG.L), and left caudate (CAU.L). The brain activity of MTG.R, SFG.L, and CAU.L differentiated between the AP and IP groups. The correlation analysis revealed a close association among the vision-related brain regions, MRI parameters of ON, and clinical characteristics in AP and IP, respectively.
CONCLUSIONS: Combined orbital and brain neuroimaging revealed abnormalities of the VPS in TED, which had a close correlation with immune statuses. Vision-related brain regions in TED might be possibly altered by peripheral immunity via a direct or indirect approach.
CLINICAL RELEVANCE STATEMENT: The discovery of this study explained the disparity of visual dysfunction in TED patients with different immune statuses. With the uncovered neuroimaging markers, early detection and intervention of visual dysfunction could be achieved and potentially benefit TED patients.
KEY POINTS: • Patients with different immune statuses of thyroid eye disease varied in the presentation of visual dysfunction. • The combined orbital and brain neuroimaging study identified six altered vision-related brain regions, which had a significant correlation with the MRI parameters of the intraorbital optic nerve and immunological characteristics. • Peripheral immunity might possibly give rise to alterations in the central nervous system part of the visual processing system via a direct or indirect approach.
Dairy animals have been milked since prehistory. Because these dairy animals are often kept in confined areas the teat areas of these animals are often contaminated with bacteria. This invention is concerned with a process for sanitizing these contaminated teat areas by treating these areas with a solution of Chloramine T. The preferred solutions for sanitizing the teat areas have concentrations of from about 0.005 to about 1 weight percent. Treating solutions for use in this invention may further incorporate a coloring agents, wetting agent, surfactants, healing agents, dyes, thickening agents, skin conditioning agents, softeners etc. The process of this invention is fast acting and is effective against a wide spectrum of bacteria. After treatment the teat area of the dairy animal being milked is bacteria free and hence bacterial contamination of the milk, and Mastitis infections are eliminated.
Patients with HER2 mutation receive Pyrotinib Maleate 400mg PO QD on days 1-28. 28 days as one cycle. Courses repeat every 2 cycles in the absence of disease progression or unacceptable toxicity.
The present invention relates to a medicine for treating cardiovascular and cerebrovascular diseases, and hypertension. The medicine is compounded from 10 to 60 parts by weight of silkworm chrysalis, 10 to 60 parts by weight of pueraria root and 5 to 30 parts by weight of borneol. The preparing method comprises the steps of soaking silkworm chrysalis by ethanol for sterilization, pulverizing and filtering the sterilized liquid, freezing and drying the filtered liquid to obtain powder, extracting ethanol water solution three times by pueraria root, filtering the extraction liquid and volatilizing ethanol, spray-drying the extraction liquid to obtain powder, and mixing and pulverizing dry silkworm chrysalis powder, dry pueraria root powder and borneol into 120 meshes. The medicine can be used for treating cerebral thrombosis caused by ischemia, hypoxia and platelet adhesion reaction, coronary heart disease, hypertension and other diseases of blood circulation disorder. The medicine has the advantages of rapid effect taking, no toxic or side effect and possible long-term taking. The medicine prepared with the method has the advantages of high instant dissolvability, undestroyed effective component and high effective component content.
There is international recognition for the need of introducing improvement in chronic illness care. However, primary care physicians face a host of challenges for providing the best possible care to their patients. One of these problems is the lack of proper administrative systems. There is evidence indicating that tailored out reach facilitation is an effective means to improve practice performance. Traditionally, the approach to care for chronically ill patients revolved mostly around the treatment of a specific chronic condition in an ad hoc basis. It is more common in family medicine for the patient to have several chronic conditions. There is also evidence showing that better health outcomes are obtained when the patients' life circumstances, desires and expectations are taken into consideration. Various models of chronic illness care have emerged that are patient center while attempting to be comprehensive. Our approach, following the Australian model, seeks to introduce systems/administrative innovations at the practice level, intended also to increase the involvement of patients with multiple chronic conditions on its own care, throw tailored out reach facilitation and care planning tools for physicians, in order to improve chronic illness management in primary care settings.
PURPOSE: Transverse deficiency (TD) and symbrachydactyly may be difficult to distinguish due to shared phenotypes and a lack of pathognomonic features. The 2020 Oberg-Manske-Tonkin classification update modified these anomalies to include "with ectodermal elements" for symbrachydactyly and "without ectodermal elements" for TD as a defining differentiating characteristic. The purpose of this investigation was to characterize ectodermal elements and the level of deficiency and to examine whether ectodermal elements versus the level of deficiency was a greater determining factor for Congenital Upper Limb Differences (CoULD) surgeons making the diagnosis.
METHODS: This was a retrospective review of 254 extremities from the CoULD registry with a diagnosis of symbrachydactyly or TD by pediatric hand surgeons. Ectodermal elements and the level of deficiency were characterized. A review of the registry radiographs and photographs was used to classify the diagnosis and compare it with the diagnosis given by the pediatric hand surgeons. The presence/absence of nubbins versus the level of deficiency as the determining factor to differentiate the pediatric hand surgeons' diagnosis of symbrachydactyly (with nubbins) versus TD (without nubbins) was analyzed.
RESULTS: Based on radiographs and photographs of the 254 extremities, 66% had nubbins on the distal end of the limb; of the limbs with nubbins, nails were present on 51%. The level of deficiency was amelia/humeral (n = 9), <1/3 transverse forearm (n = 23), 1/3 to 2/3 transverse forearm (n = 27), 2/3 to full forearm TD (n = 38), and metacarpal/phalangeal (n = 103). The presence of nubbins was associated with a four times higher likelihood of a pediatric hand surgeon's diagnosis of symbrachydactyly. However, a distal deficiency is associated with a 20-times higher likelihood of a diagnosis of symbrachydactyly than a proximal deficiency.
CONCLUSIONS: Although both the level of deficiency and ectodermal elements are important, the level of deficiency was a greater determining factor for a diagnosis of symbrachydactyly versus TD. Our results suggest that the level of deficiency and nubbins should both be described to help provide greater clarity in the diagnosis of symbrachydactyly versus TD.
TYPE OF STUDY/LEVEL OF EVIDENCE: Diagnostic IV.
FIELD: organic chemistry, chemical technology, pharmacy. SUBSTANCE: invention relates to cyanoiminoquinoxaline derivatives of the formula (II)   wherein X and Y each independently each of other means oxygen atom or NCN under condition that at least one of X and Y means NCN; each of R 1 , R 2 , R 3 , R 4  independently each of other means hydrogen, halogen atom, nitro-group, optionally substituted with heterocyclic group; R 5  means hydrogen atom. Invention describes also methods for preparing compounds used in synthesis of intermediate compounds and pharmaceutical composition based on claimed compounds. Proposed compounds are useful as prophylactic or therapeutic agent in treatment of diseases caused by hyperexcitation of glutamate receptors. EFFECT: improved preparing method, valuable medicinal properties of compounds. 23 cl, 2 tbl, 14 ex
PURPOSE: Ischemic retinopathy is the major cause of vision-threatening conditions. Inflammation plays an important role in the pathogenesis of ischemic retinopathy. Formyl peptide receptor 1 (FPR1) has been reported to be implicated in the regulation of inflammatory disorders. However, the role of FPR1 in the progression of ischemic retinal injury has not been fully explained.
METHODS: The activation of FPR1 was measured by real-time PCR and western blotting in the retina of OIR. The effect of FPR1 on the expression of inflammatory cytokines and relevant pro-angiogenic factors was assessed between wild-type and FPR1-deficiency OIR mice. The impact of FPR1 on retinal angiogenesis was evaluated through quantifying retinal vaso-obliteration and neovascularization between FPR1+/+ and FPR1-/- OIR mice. At last, the neuronal effect of FPR1 on the ischemic retina was investigated by ERG between wild-type and FPR1-deficient OIR mice.
RESULTS: The expression of FPR1 significantly increased in the retina of OIR. Furthermore, FPR1 deficiency downregulated pro-inflammatory and pro-angiogenic factors. Ablation of FPR1 suppressed the retinal pathological neovascularization and promoted reparative revascularization, ultimately improving retinal neural function after ischemic injury.
CONCLUSION: In ischemic retinopathy, FPR1 aggravates inflammation and inhibits reparative angiogenesis to exacerbate neuronal dysfunction.
The group lifestyle program used in the IDOLc study is adapted from the first 6 months of the Look AHEAD program and will include 19 group sessions offered over a six month period. Each of 2 groups will contain up to 15 patients with type 2 diabetes and will last 1-1.5 hours. The program curriculum focuses on nutrition, activity, and behavioral topics and incorporates the use of meal replacements for the first 4-16 weeks to enhance weight loss success. The program fosters the development of knowledge and lifestyle skills to change diet and exercise habits through use of goal setting, problem solving, stimulus control and other behavioral techniques that have resulted in weight loss, weight maintenance and improved glycemic control.