Merge pull request #74 from monarch-initiative/claude/fix-fibromyalgia-yaml-ZY1pg

Fix Fibromyalgia YAML schema validation errors

Author: dragon-ai-agent

kb/disorders/Fibromyalgia.yaml

@@ -95,6 +95,37 @@ pathophysiology:
     supports: SUPPORT
     snippet: "These data support the view that HPA axis function is perturbed in patients with FM."
     explanation: Concludes that HPA axis perturbations are a characteristic feature of fibromyalgia pathophysiology.
+- name: Small Fiber Pathology
+  description: >
+    Structural and functional abnormalities of thinly myelinated Aδ and
+    unmyelinated C-fibers affecting approximately 50% of patients.
+    Reduced intraepidermal nerve fiber density (IENFD) with proximal
+    predominant pattern contributes ongoing peripheral nociceptive input.
+  cell_types:
+  - preferred_term: Peripheral Sensory Neurons
+    term:
+      id: CL:0000101
+      label: sensory neuron
+  evidence:
+  - reference: PMID:39062116
+    supports: SUPPORT
+    snippet: "These include central sensitization, associated with an increase in the release of both excitatory and inhibitory neurotransmitters; peripheral sensitization, involving alterations in peripheral nociceptor signaling; and inflammatory and immune mechanisms that develop concurrently with the aforementioned processes."
+    explanation: Establishes peripheral sensitization involving nociceptor signaling as one of three key pathophysiological processes in fibromyalgia.
+- name: Genetic Susceptibility
+  description: >
+    Multiple genetic variants affect neurotransmitter systems, pain processing,
+    and sensory signaling. CNS-enriched heritability with neural gene prioritization
+    establishes genetic predisposition to altered pain perception and modulation.
+  biological_processes:
+  - preferred_term: Pain Perception
+    term:
+      id: GO:0019233
+      label: sensory perception of pain
+  evidence:
+  - reference: PMID:21905019
+    supports: SUPPORT
+    snippet: "Evidence of association in the replication cohort was observed for TAAR1, RGS4, CNR1, and GRIA4."
+    explanation: Large-scale genetic study identifies TAAR1, RGS4, CNR1, and GRIA4 as genes with evidence of association with fibromyalgia in replication cohort.
 phenotypes:
 - name: Chronic Widespread Pain
   category: Musculoskeletal
@@ -201,11 +232,6 @@ phenotypes:
     term:
       id: HP:0007328
       label: Impaired pain sensation
-  evidence:
-  - reference: PMID:39062116
-    supports: SUPPORT
-    snippet: "Central sensitization (CS), amplified pain processing within the central nervous system, is widely accepted as a core mechanism in FM pathophysiology."
-    explanation: Central sensitization leads to amplified pain processing resulting in hypersensitivity to normally non-painful stimuli.
 - name: Joint Stiffness
   category: Musculoskeletal
   frequency: FREQUENT
@@ -226,8 +252,8 @@ phenotypes:
   phenotype_term:
     preferred_term: Autonomic Dysfunction
     term:
-      id: HP:0002459
-      label: Dysautonomia
+      id: HP:0012332
+      label: Abnormal autonomic nervous system physiology
 biochemical:
 - name: Substance P
   presence: Elevated
@@ -237,45 +263,6 @@ biochemical:
     supports: SUPPORT
     snippet: "CSF SP levels were 3-fold higher in FMS patients than in normal controls (P < 0.001)"
     explanation: Documents dramatic elevation of substance P in cerebrospinal fluid of fibromyalgia patients.
-- name: Small Fiber Pathology
-  description: >
-    Structural and functional abnormalities of thinly myelinated Aδ and 
-    unmyelinated C-fibers affecting approximately 50% of patients.
-    Reduced intraepidermal nerve fiber density (IENFD) with proximal 
-    predominant pattern contributes ongoing peripheral nociceptive input.
-  cell_types:
-  - preferred_term: Peripheral Sensory Neurons
-    term:
-      id: CL:0000099
-      label: sensory neuron
-  evidence:
-  - reference: PMID:39062116
-    supports: SUPPORT
-    snippet: "These include central sensitization, associated with an increase in the release of both excitatory and inhibitory neurotransmitters; peripheral sensitization, involving alterations in peripheral nociceptor signaling; and inflammatory and immune mechanisms that develop concurrently with the aforementioned processes."
-    explanation: Establishes peripheral sensitization involving nociceptor signaling as one of three key pathophysiological processes in fibromyalgia.
-  - reference: PMID:39062116
-    supports: SUPPORT
-    snippet: "Whether ongoing peripheral nociceptor input is required to initiate and sustain CS in established FM remains controversial, despite evidence of subtle inflammation, muscle or metabolic abnormalities, and small-fiber pathology."
-    explanation: Acknowledges small-fiber pathology as documented peripheral abnormality that may contribute to central sensitization maintenance.
-- name: Genetic Susceptibility
-  description: >
-    Multiple genetic variants affect neurotransmitter systems, pain processing,
-    and sensory signaling. CNS-enriched heritability with neural gene prioritization
-    establishes genetic predisposition to altered pain perception and modulation.
-  biological_processes:
-  - preferred_term: Pain Perception
-    term:
-      id: GO:0019233
-      label: sensory perception of pain
-  evidence:
-  - reference: PMID:21905019
-    supports: SUPPORT
-    snippet: "Evidence of association in the replication cohort was observed for TAAR1, RGS4, CNR1, and GRIA4."
-    explanation: Large-scale genetic study identifies TAAR1, RGS4, CNR1, and GRIA4 as genes with evidence of association with fibromyalgia in replication cohort.
-  - reference: PMID:21905019
-    supports: SUPPORT
-    snippet: "The analgesic properties of the CB-1 cannabinoid receptor have been well-documented"
-    explanation: CNR1 gene encodes CB-1 cannabinoid receptor with documented analgesic properties, supporting potential role in fibromyalgia pain modulation.
 - name: Glutamate
   presence: Elevated
   context: Insula levels on MRS
@@ -372,22 +359,22 @@ treatments:
   treatment_term:
     preferred_term: psychotherapy
     term:
-      id: MAXO:0000016
-      label: psychotherapy
+      id: MAXO:0000077
+      label: behavioral counseling
 - name: Sleep Hygiene Education
   description: Behavioral interventions to improve sleep quality and reduce non-restorative sleep patterns.
   treatment_term:
     preferred_term: patient education
     term:
-      id: MAXO:0000072
-      label: patient education
+      id: MAXO:0000077
+      label: behavioral counseling
 - name: Mindfulness-Based Stress Reduction
   description: Meditation and mindfulness practices for pain management and stress reduction.
   treatment_term:
     preferred_term: behavioral intervention
     term:
-      id: MAXO:0010070
-      label: behavioral intervention
+      id: MAXO:0000010
+      label: cognitive and behavioral intervention
 - name: Aquatic Therapy
   description: Water-based exercise therapy for low-impact conditioning and pain relief.
   treatment_term:

references_cache/PMID_39062116.md

@@ -0,0 +1,28 @@
+---
+reference_id: "PMID:39062116"
+title: "Fibromyalgia: A Review of the Pathophysiological Mechanisms and Multidisciplinary Treatment Strategies."
+authors:
+- Siracusa R
+- Paola RD
+- Cuzzocrea S
+- Impellizzeri D
+journal: Biomedicines
+year: '2024'
+doi: 10.3390/biomedicines12071543
+content_type: abstract_only
+---
+
+# Fibromyalgia: A Review of the Pathophysiological Mechanisms and Multidisciplinary Treatment Strategies.
+**Authors:** Siracusa R, Paola RD, Cuzzocrea S, Impellizzeri D
+**Journal:** Biomedicines (2024)
+**DOI:** [10.3390/biomedicines12071543](https://doi.org/10.3390/biomedicines12071543)
+
+## Content
+
+Fibromyalgia is a syndrome characterized by chronic widespread musculoskeletal pain, which may or may not be associated with muscle or joint stiffness, accompanied by other symptoms such as fatigue, sleep disturbances, anxiety, and depression. It is a highly prevalent condition globally, being considered the third most common musculoskeletal disorder, following lower back pain and osteoarthritis. It is more prevalent in women than in men, and although it can occur at any age, it is more common between the ages of thirty and thirty-five. Although the pathophysiology and etiopathogenesis remain largely unknown, three underlying processes in fibromyalgia have been investigated. These include central sensitization, associated with an increase in the release of both excitatory and inhibitory neurotransmitters; peripheral sensitization, involving alterations in peripheral nociceptor signaling; and inflammatory and immune mechanisms that develop concurrently with the aforementioned processes. Furthermore, it has been determined that genetic, endocrine, psychological, and sleep disorders may influence the development of this pathology. The accurate diagnosis of fibromyalgia remains challenging as it lacks specific diagnostic biomarkers, which are still under investigation. The complexity associated with this pathology makes it difficult to establish a single effective treatment. Therefore, treatment is multidisciplinary, involving both pharmacological and non-pharmacological interventions aimed at alleviating symptoms. The non-pharmacological treatments outlined in this review are primarily related to physiotherapy interventions. The effectiveness of physical exercise, both on land and in water, as well as the application of electrotherapy combined with transcranial therapy and manual therapy has been highlighted.
+
+Keywords: fibromyalgia; physical exercise; physiopathology; quality of life.
+
+DOI: 10.3390/biomedicines12071543
+PMCID: PMC11275111
+PMID: 39062116