「esp」の検索結果

Bulk-query Ensembl BioMart (and other BioMart instances) for cross-database ID mapping, gene/transcript/exon coordinates, and ortholog tables. Use when batch-converting Ensembl IDs to other namespaces (HGNC, RefSeq, UniProt, Entrez), pulling gene coordinate tables for thousands of genes, building ortholog wide-tables across species, or replacing slow Ensembl REST loops with one-shot bulk export. Encodes BioMart's XML query format, R biomaRt vs Python pybiomart trade-off, mart-vs-dataset hierarchy, and the URL endpoint that's BioMart-specific (separate from rest.ensembl.org).

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Treats a ctDNA assay as a molecule-counting experiment at the Poisson edge and builds its analytical-validation case the measurement-science way. Covers the genome-equivalent currency (~330 haploid copies/ng), the lambda = input_GE x VAF sampling ceiling (lambda>=3 for ~95% detection), the error-suppression ladder (raw NGS ~1e-3 -> single-strand UMI ~1e-4/1e-5 -> duplex <1e-7), the CLSI EP17 LoB/LoD/LoD95/LoQ framework, the per-locus-vs-panel-integrated LoD distinction that lets bespoke MRD reach ppm, contrived/SEQC2 reference standards, and honest LoD reporting conditioned on input mass + consensus depth + replicate detection rate. Use when stating or trusting a sensitivity claim, designing a dilution-series validation, deciding how many genome equivalents are needed at a target VAF, choosing a single-locus vs panel-integrated LoD, or auditing a "detects 0.1% VAF" claim.

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Write articles, guides, blog posts, tutorials, newsletter issues, and other long-form content in a distinctive voice derived from supplied examples or brand guidance. Use when the user wants polished written content longer than a paragraph, especially when voice consistency, structure, and credibility matter.

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Operational skill hub for LLM system architecture, evaluation, deployment, and optimization (modern production standards). Links to specialized skills for prompts, RAG, agents, and safety. Integrates recent advances: PEFT/LoRA fine-tuning, hybrid RAG handoff (see dedicated skill), vLLM 24x throughput, multi-layered security (90%+ bypass for single-layer), automated drift detection (18-second response), and CI/CD-aligned evaluation.

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Apply the four published expert-consensus clinical scenarios to manage GI adverse events in complex GLP-1 receptor agonist patients — persistent nausea mid-titration, GERD/heartburn after up-titration, elderly with sarcopenia risk, and insulin-treated elderly with CKD plus diarrhoea. Use when a clinician describes a patient resembling one of these archetypes, or asks "how to manage GLP-1 in an elderly patient with CKD", "patient on liraglutide developed reflux", "sarcopenia worry on semaglutide in 80-year-old", or "persistent nausea on semaglutide despite escalation". Grounded in Gorgojo-Martínez 2023 Table 4.

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Recommends CSII over analog-based basal-bolus MDI for adults with T1DM who have not achieved their A1C goal, provided patient and caregivers are willing and able to use the device. Trigger phrases include 'Patient’s A1C is above target despite MDI' and 'Consider pump for uncontrolled T1DM'.

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Assesses the patient’s ability to troubleshoot insulin pump malfunctions such as occlusion, battery failure, or error messages. Trigger phrases include “Review pump alarm responses” and “Ensure patient knows steps for pump error”.

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This skill guides evaluation of venous thromboembolism (VTE) risk factors in Cushing's syndrome patients to prevent thrombotic complications. Use when assessing a CS patient for thrombotic risk, especially perioperatively; triggers include preoperative assessment, postoperative period (within 4-6 weeks), or presence of CS with additional risk factors such as prior VTE, immobilization, malignancy, or estrogen use.

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Guidance for clinicians managing pregnant individuals with preexisting diabetes mellitus (PDM) who are evaluating daily carbohydrate intake; consider a carbohydrate-restricted diet (<175 g/day) or usual diet (>175 g/day) based on patient factors. Trigger when assessing nutrition in pregnancy for PDM, especially when discussing glycemic targets, weight gain, or fetal growth concerns.

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Evaluates patient’s ability to use CGM trend information (arrows, rate of change) to make insulin dose adjustments. Triggers include reviewing patient’s response to CGM trends and checking if patient adjusts bolus based on glucose direction.

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This skill recommends that all patients with Cushing’s syndrome receive monitoring and adjunctive treatment for cortisol-dependent comorbidities including psychiatric disorders, diabetes, hypertension, hypokalemia, infections, dyslipidemia, osteoporosis, and poor physical fitness. Apply when managing any CS patient to address associated health issues; triggers include confirmed or suspected hypercortisolism, preoperative evaluation, postoperative follow‑up, or persistent hypercortisolism despite treatment.

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This skill suggests pituitary-directed medical treatments (e.g., cabergoline, pasireotide) for patients with Cushing's disease who are not surgical candidates or have persistent disease after transsphenoidal surgery. Use when a CD patient cannot undergo surgery or has residual disease post-TSS; triggers include "not a surgical candidate", "persistent disease after TSS", "ongoing hypercortisolism despite prior surgery".

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Recommends adding intravenous bisphosphonate or denosumab in adults with hypercalcemia of malignancy due to tumors with high calcitriol levels (e.g., lymphoma) who remain severe or symptomatic despite glucocorticoid therapy. Use when managing lymphoma‑related HCM on steroids and considering escalation of antiresorptive therapy.

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Suggests considering mineralocorticoid receptor antagonists when benefits outweigh risks in pregnant or preconception PA patients with uncontrolled hypertension and hypokalemia. Triggered when standard therapy fails and clinicians ask 'Should I consider MRAs despite pregnancy?' or when assessing risk‑benefit of MRA use.

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The skill suggests adding a calcimimetic for hypercalcemia of malignancy due to parathyroid carcinoma that persists after intravenous bisphosphonate or denosumab therapy. It is triggered when a clinician notes refractory HCM despite antiresorptive therapy and considers adding a calcimimetic.

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Recommends denosumab for adults with refractory or recurrent hypercalcemia of malignancy who have persistent or relapsed hypercalcemia despite intravenous bisphosphonate therapy. Triggered when a clinician observes recurrent hypercalcemia after bisphosphonate treatment or considers next‑line agents for HCM.

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Recommends adding intravenous bisphosphonate or denosumab when hypercalcemia due to parathyroid carcinoma is not adequately controlled with a calcimimetic. Consider this adjunct when a clinician notes persistent HCM despite calcimimetic therapy and asks about next-step therapy.

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Recommends mineralocorticoid receptor antagonists for all primary aldosteronism patients to prevent target organ damage, irrespective of blood pressure control or serum potassium levels. Triggered when a clinician encounters a PA patient with well‑controlled BP and normal K and wonders, 'Do I still need to treat with MRA?' or considers stopping therapy.

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Determines whether to perform adrenal venous sampling (AVS) to lateralize aldosterone excess in patients with confirmed primary aldosteronism (PA) who are being evaluated for surgical treatment. Indicated when surgery is feasible and desired by the patient, or when subtype workup is planned for a surgical candidate, especially in those younger than 35 years with spontaneous hypokalemia, marked aldosterone excess, and unilateral adrenal lesions on CT.

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Recommends increasing hydrocortisone dose in pregnant patients with primary adrenal insufficiency based on individual clinical course, especially during the third trimester. Trigger phrases include "fatigue, postural hypotension, weight loss, or hyperglycemia in pregnant PAI patient" and "need for glucocorticoid dose adjustment in third trimester."

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In patients with primary aldosteronism receiving mineralocorticoid receptor antagonist therapy, the guideline recommends titrating the MRA dose upward to raise renin when blood pressure remains uncontrolled and renin is suppressed. Consider this step when hypertension is not at goal despite MRA therapy and plasma renin activity (or direct renin concentration) is low.

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This skill recommends simultaneous measurement of plasma renin and aldosterone in patients with primary adrenal insufficiency (PAI) to determine the presence of mineralocorticoid deficiency. It is triggered when assessing for mineralocorticoid deficiency in PAI, such as in patients with unexplained hyponatremia, hyperkalemia, or salt craving despite glucocorticoid replacement.

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Determines whether to add a mineralocorticoid receptor antagonist (e.g., spironolactone or eplerenone) to glucocorticoid therapy in glucocorticoid-remediable aldosteronism when blood pressure fails to normalize with glucocorticoid alone. Triggered by persistent hypertension or inadequate BP control despite optimized glucocorticoid dosing in GRA patients.

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Recommends spironolactone as first-line mineralocorticoid receptor antagonist for initial medical therapy of primary aldosteronism due to low cost and widespread availability. Use when a clinician queries which MRA to start for a patient with PA requiring medical therapy.

日本語の概要は準備中です。原文の説明を表示しています。