anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the "hotspot region", which is particularly susceptible to mutation.
METHODS: In this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations.
RESULTS: We identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein.
CONCLUSIONS: Our findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment.
Disclosed is a method, comprising processing measurement specifiers from a plurality of sets of measurement specifiers. The plurality of sets of measurement specifiers comprises at least a first set of measurement specifiers and a second set of measurement specifiers. The method further comprises performing an association step. The association step comprises associating corresponding measurement specifiers of the first set of measurement specifiers to measurement specifiers from a plurality of the other set(s) of measurement specifiers respectively. The association step further comprises assigning to some or all of the measurement specifiers of the sets of measurement specifiers an indication of a corresponding intermediary specifier of a set of intermediary specifiers respectively. The method further comprises a subset-selection step. The subset-selection step comprises for each of a plurality of measurement specifiers to be associated, selecting a subset of the set of intermediary specifiers based on a similarity of the respective measurement specifier and the intermediary specifiers. The method further comprises performing a matching step, wherein the matching step comprises matching at least some of the measurement specifiers to corresponding intermediary specifiers based at least one the subsets of the intermediary specifiers respectively selected for the measurement specifiers. At least some of the measurement specifiers comprise attributes relating to a measurement procedure for generating measurement values specified by the respective measurement specifier. Furthermore, a system is disclosed. The system comprises a data- processing system. The data-processing system is configured for performing an association step, wherein the data-processing system further comprises. Also, corresponding computer program products for the data-processing system are disclosed.
Patients receive SOC treatment which typically includes either electrodesiccation and curettage, surgical resection, or Mohs surgery as agreed upon by patient and provider in the absence of disease progression. Patients complete a standard 1-year follow-up total body skin examination followed by a second survey.
The aim of this project is to educate the fellows and faculty about nutrition. This will be done with a 3-hour nutrition module provided by the Gaples Institute. The Gaples Institute is a non-profit organization advocating natural strategies balanced with conventional medicine. The module will be provided free of charge for this education. There will also be a prevention education conference once every five weeks.

The secondary aim is to affect change in clinical practice among fellows and faculty. With an intensive nutrition education spanned over six months, the goal is to see if investigators can affect change in clinical practice. The nutrition module online will be available to those who participate in the study. The study participants are required to complete the 3-hour nutrition module prior to the six month completion of this study.
Bruxism is a common parafunctional habit defined as clenching and/or grinding of teeth occurring during sleep and/or wakefulness. Although the etiology is not known exactly, there is a consensus that it is multifactorial. Emotional stress is one of the important factors leading to bruxism. It has been shown that a stressful life has an important effect in explaining clenching during the day. In addition to stress, previous studies showing that psychiatric disorders, especially depression and anxiety disorders, accompany TMD and bruxism.

This trial aimed to examine the effects of manual therapy and home exercise treatments on pain, sleep quality, stress level and quality of life in patients with bruxism. In the study thirty bruxists over the age of 18 were included in the research protocol. The patients were randomly divided into Manual Therapy Group (MTG) and Home Exercise Group (HEG). Before treatment (T1) demographic information was obtained from all patients, they were asked to fill out the Pittsburgh Sleep Quality Index (PSQI), Perceived Stress Scale (PSS), Fonseca Anamnestic Index (FAI) and Quality of Life Scale/Short Form-36 (SF-36) and number of trigger points and pain levels were determined at baseline. Manual therapy and home exercises were applied to both groups for 8 weeks and all tests were repeated and re-evaluated at the end of 8 weeks (T2). The normal distribution of the groups was tested with Kolmogorov-Smirnov. Paired Samples t test was used for intra-group comparisons at T1 and T2, and Independent t test was used for inter-group comparisons. The statistical significance level was accepted as p\<0.05.
Dosage adjustment is necessary in patients with moderate hepatic impairment. 

Do not use vardenafil hydrochloride tablets in patients with severe hepatic impairment (Child-Pugh C). Vardenafil has not been evaluated in this patient population. 

A starting dose of 5 mg is recommended in patients with moderate hepatic impairment (Child-Pugh B) and the maximum dose should not exceed 10 mg. In volunteers with moderate hepatic impairment, the Cmax and AUC following a 10 mg vardenafil dose were increased by 130% and 160%, respectively, compared to healthy control subjects. [See Warnings and Precautions (5.8) and Dosage and Administration (2.3).] 

  


In volunteers with mild hepatic impairment (Child-Pugh A), the Cmax and AUC following a 10 mg vardenafil dose were increased by 22% and 17%, respectively, compared to healthy control subjects. No dosage adjustment is necessary in patients with mild hepatic impairment.
A method and system for selecting and producing a customized cosmetic or pharmaceutical formulation is disclosed below. The system can be implemented in an Internet based system or a stand-alone version, such as a Kiosk. An improved method of custom formulation is presented which utilizes the user's preferences and profile, as well as external factors. The customized formulation can be directed to a manufacturing facility for on-demand production. Alternatively, a printout of the formulation can be provided for subsequent use at point-of-sale locations, such as a cosmetics store or a pharmacy. The custom formulation software can also be provided in conjunction with a cosmetics manufacturing kit for use in home or business application.
A system that automates and optimizes the workflows and transportation routes of one or more mobile medical units is provided. The mobile medical units may include mobile phlebotomy units for the onsite collection of medical specimens (e.g., blood). The system may include a plurality of mobile medical units (e.g., medically equipped vans) within a particular city, and a system for receiving and assigning medical workorders to particular mobile units (e.g., based on the mobile unit's location compared to that of the patient, availability, and other criteria). The system also may determine an optimized route to the patient for the mobile unit to follow and may provide additional administrative support to the mobile unit during the entire workflow process. The system also may perform onsite diagnostic tests on medical specimens collected from a patient (e.g., using medical test equipment), may flag abnormal test results, and may communicate the results to a healthcare provider. The system also may effect a particular treatment or prophylaxis for a disease or medical condition of a patient as indicated by the diagnostic test results acquired by a mobile medical unit at the patient's remote location.
Activity-based upper extremity training (AB-UET + scTS) will be administered 5d/week and 1 hour 30 minutes/session. UE tasks will be repeated with and without scTS so that scTS is administered intermittently for the duration of \~ 10 minute/bouts.
BACKGROUND/AIM: This study investigated the clinical impact of resection of pelvic sentinel lymph nodes (PSLNs) in squamous cell vulvar cancer (SCVC).
PATIENTS AND METHODS: Sixty-two groins of 33 patients with SCVC who underwent sentinel lymph node (SLN) resection between 2010 and 2021 at the University Hospital of Cologne, Germany, were analyzed in this retrospective cohort study. The frequency of additionally resectable PSLNs, histological findings, and count rates were analyzed and compared to the findings for inguinal sentinel lymph nodes (ISLNs).
RESULTS: In all patients and in 61 (98%) of the 62 radiolabeled groins, at least one SLN could be resected. Five (8%) of the 62 groins had histologically confirmed lymph node metastases (4/33 patients, 12%). Twenty (33%) of the 62 groins underwent additional PSLN resection. Resection of these PSLNs was feasible without causing an additional burden for the patients. None of the PSLNs showed signs of tumor infiltration. Information on the extent of radioactivity for ISLNs and simultaneously for PSLNs, expressed as count rate of intraoperative measurement with the gamma probe, was available for 20 (32%) groins. In three (15%) of these cases, the highest count rate in a SLN was found in a PSLN and not in an ISLN.
CONCLUSION: Resection of PSLNs is feasible and can be performed without short-term complications. In patients with early SCVC, resection of PSLNs is not necessary, even in those with early infiltration of inguinal lymph nodes. The intraoperative count rate of SLN is not relevant for the decision to perform resection.
INTRODUCTION: It is crucial to utilize combination therapy for immunoglobulin A nephropathy (IgAN) patients to reduce proteinuria and maintain stable kidney function. We demonstrate the safety and efficacy of low-dose spironolactone in the management of IgAN patients.
METHODS: Adult IgAN patients treated with spironolactone were evaluated. Patients were separated into two categories according to whether 24-h proteinuria was reduced by more than 20% after 2 months of spironolactone treatment compared to baseline levels.
RESULTS: Eighty-eight patients were analyzed and 24-h proteinuria decreased from 0.93 g to 0.70 g (p < 0.001) after 2 months of treatment with spironolactone, accompanied by a slight decrease in eGFR from 75.7 to 73.9 mL/min/1.73 m2 (p = 0.033). Intriguingly, 47 patients in the effective mineralocorticoid receptor antagonist (MRA) group showed less endocapillary hypercellularity (p = 0.040). In the ineffective group, 18 patients discontinued MRA treatment because 24-h proteinuria increased from 0.83 g to 1.04 g, while the other 23 patients continued with spironolactone and proteinuria decreased to 0.57 g in the sixth month (p = 0.001). Furthermore, 12 patients with persistent high proteinuria during prednisone therapy were added with spironolactone. 24-proteinuria was dropped from 0.95 g to 0.73 g at the second month and to 0.50 g at the sixth month.
CONCLUSIONS: In our study, we confirmed spironolactone's efficacy in reducing urine protein excretion in IgA nephropathy patients within 2 months of treatment. However, response varied among patients, with those showing endocapillary proliferation (E1) in renal biopsies having poor spironolactone responsiveness. Administering MRAs to patients with eGFR over 30 mL/min did not result in hyperkalemia, indicating the treatment's safety.
Labor analgesia will be maintained using timed-intermittent boluses of local anesthetic with PCEA using the CADD-Solis pump. The bolus rate will be 100 mL/h in the low-rate bolus group.
PURPOSE:To obtain the subject cosmetic having excellent water and oil- repellency, smoothly spreadable on the skin to give excellent feeling to the skin and giving durable make-up by treating powder with a specific perfluoroalkyl epoxy compound. CONSTITUTION:The objective cosmetic contains powder (e.g. titanium oxide, zinc oxide, red iron oxide and yellow iron oxide) treated with a compound of the formula (n is 4-20; l is 0-3). The powder preferably has flaky or spherical form having a size of 0.01-80mum. The treatment of powder is generally carried out preferably by mixing the powder with a solution of the compound of the formula and removing the solvent by filtration or distillation. The solvent is e.g. hexane, ethanol or isopropyl ether.
FIELD: medicine, phytotherapy, pharmacy. SUBSTANCE: invention relates to development of pharmacological agents used for correction of immunodeficiency. Invention proposes an alcoholic complex of the following medicinal plants: snowdon rose roots, flesh-colored schin-leaf flowers, vivaparous knot-weed seeds, major Saint-John's-wort flowers, Siberian cedar nonroasted nuts and medicinal sage leaves taken in the definite ratio of components. The proposed preparation shows the effective immunostimulating effect due to the presence of flavonoids, vitamins and trace elements that results to the rise of blood leukocytes and lymphocytes level and enhancement of body protective strength. EFFECT: enhanced effectiveness of agent. 1 cl, 1 ex
Over the past twenty years a number of studies of acute bronchial asthma have shown that i.v. or nebulized MgS04 may improve symptoms over a course of hours. With respect to dietary supplementation, short term (3 wk) oral Mg has been associated with a significant decrease in symptoms but no significant effect on measurements like FEV1 or bronchial hyperreactivity by methacholine challenge. Although a large number of studies have attempted to address this issue, we believe that major gaps still exist. One of the gaps is in the comparison of large numbers of asthmatics and non-asthmatics, with regard to dietary intake, and a variety of measures of Mg status. We will evaluate baseline Mg intake (diet, tap and bottled drinking water, vitamin-mineral supplements, laxatives, and antacids), and multiple measures of Mg status, such as total and free serum Mg, total erythrocyte Mg, and Mg retention after an IV Mg load in subjects with and without asthma. Furthermore there are no large-scale studies evaluating the effects of Mg supplementation on asthma control and clinical markers, and markers of inflammation. We propose to assess the effects of 6 1/2 months of oral Mg on clinical markers of asthma control (asthma symptom diary, monthly spirometry, asthma quality of life questionnaire (QOL)), indirect biomarkers of inflammation (exhaled nitric oxide and serum eosinophil cationic protein) and bronchial hyperresponsiveness (methacholine challenge)in subjects with mild to moderate persistent asthma. Dietary Mg will be assessed using the 24 hr recall. Our hypotheses are that 1.) subjects with mild to moderate persistent asthma, as defined by National Institutes of Health National Asthma Education and Prevention Program (NIH NAEPP) clinical guidelines will have poorer Mg status than nonasthmatics, and 2.) that marginal Mg intake and status may modulate the severity of asthma. Thus, subjects with asthma who have marginal intake/status and thus relatively lower total and free plasma Mg, lower erythrocyte total Mg, and higher Mg retention will show improvement in the aforementioned clinical and indirect biomarkers. In contrast, Mg supplements will have little effect in subjects with highest intakes and Mg status. We do not anticipate that Mg supplementation will replace conventional treatment, but may complement and decrease the need for conventional medication.
Testing for myocardial ischemia in patients presenting with sustained monomorphic Ventricular Tachycardia(VT) even without evidence of acute myocardial infarction is a tempting strategy that is frequently utilized in clinical practice. Monomorphic VT is mainly caused by re-entry around chronic myocardial scar and active ischemia has no role in its pathogenesis, thus making testing for ischemia futile, at least in theory. This systematic literature review sought to address the usefulness of ischemia testing (mainly coronary angiography) in patients presenting with monomorphic VT through 8 selected studies after evaluating a total of 130 published manuscripts. Particularly, we sought to unveil whether coronary angiography and possibly concomitant revascularization leads to lesser tachycardia recurrence. Our conclusion can be summarized as follows: this approach whether combined with revascularization or not, does not seem to reduce VT recurrence nor does it affect mortality in such patients. Even though most of the published literature points at this direction, validation from randomized controlled trials is imperative.
In some examples, a computing device may receive sensor data associated with a plurality of patient devices that are associated with a plurality of patients. The computing device may further receive caregiver records corresponding at least partially to the sensor data. At least two groups of indicators may be determined from the caregiver records, such a based on a selected subject. Further, the computing device may determine a plurality of clusters from the sensor data. Based on the plurality of clusters and the at least two groups, the computing device may determine an indication of a discrepancy in care for a patient of the plurality of patients. Based on the indication of the discrepancy, the computing device may send at least one of a notification to a caregiver computing device, a notification to a monitoring computing device, or a control signal to one of the patient devices.
AMPYRA can cause seizures. Increased incidence of seizures has been observed at 20 mg twice daily (2 times the maximum recommended dosage) in controlled clinical studies of 9–14 weeks duration with dalfampridine in patients with MS. In open label extension trials in MS patients, the incidence of seizures during treatment with dalfampridine 15 mg twice daily (1.7/100PY) was over 4 times higher than the incidence during treatment with 10 mg twice daily (0.4/100PY). In the post-marketing period seizures have been reported. The majority of seizures occurred at the recommended dose and in patients without a history of seizures, and generally within days to weeks of starting therapy.

AMPYRA has not been evaluated in patients with a history of seizures or with evidence of epileptiform activity on an EEG, as these patients were excluded from clinical trials. The risk of seizures in patients with epileptiform activity on an EEG is unknown, and could be substantially higher than that observed in AMPYRA clinical studies. Permanently discontinue AMPYRA in patients who have a seizure while on treatment. AMPYRA is contraindicated in patients with a history of seizures [see Contraindications (4)] .
This study explored the effect of glutathione assisted continuous renal replacement therapy (CRRT) on peripheral blood receptors in sepsis patients with acute kidney injury. A total of 196 sepsis patients with acute kidney injury were recruited to perform a retrospective cohort study, 98 patients treated with glutathione combined with CRRT were included as the combination group, and then 98 patients treated with CRRT alone were included as the control group during the same period. The outcome was changes in the levels of blood urea nitrogen (BUN), serum creatinine (Scr), peripheral blood receptors, acute physiology and chronic health evaluation (APACHE) II, and sequential organ failure assessment (SOFA) before and after treatment. After treatment, the levels of BUN and Scr in both groups of patients were significantly lower than those before treatment, and the levels in the combination group were lower than those in the control group. After treatment, toll-like receptor (TLR) 4 and TLR2 levels in both groups of patients were lower than those before treatment, and the levels in the combination group were lower than those in the control group. After treatment, the APACHE II and SOFA scores of the two groups were lower than those before treatment, and the scores in the combination group were lower than those in the control group. Glutathione-assisted CRRT can improve the renal function of patients and reduce the immune inflammatory response of sepsis patients with acute kidney injury, which can be widely promoted in the clinic.
Methods of the present invention predict a physiological state of a subject. A composition comprising activity sensors is introduced into a body of a subject. The activity sensors comprise a plurality of reporters susceptible to cleavage when processed by the body during extracellular matrix remodeling. Cleavage may be indicative of enzymatic activity in the extracellular matrix. Signals detected by the activity sensors may be predictive of a physiological state. A sample is collected from the subject, and liberated reporters are detected in the sample. An onset of the physiological state of the subject, which may be a disease characterized by inflammation or atrophy, may be diagnosed based on the liberated reporters detected.
An 8-month-old girl referred from her pediatrician with a diagnosis of neurofibromatosis type 1 (NF1) presented with an enlarged cloudy cornea of the left eye and a swollen left side of the face. Her left eye had intraocular pressure (IOP) of 21 mm Hg, corneal diameter of 16 mm, ectropion uvea, cup:disk ratio of 0.9, axial length of 28.06 mm, and S-shaped upper lid deformity. Uneventful combined trabeculotomy-trabeculectomy with mitomycin C was performed. On postoperative day 1, there was a new total hyphema that persisted for 2 weeks. An anterior chamber washout was performed, revealing the source of bleeding to be a persistent tunica vasculosa lentis along the zonules of the lens. Viscotamponade was performed, and the corneal wounds were closed, with the ocular tension slightly elevated. Bleeding did not recur for the following 5 months, and IOP was controlled until final follow-up.