Model: FareedKhan/flax-sentence-embeddings_all_datasets_v4_MiniLM-L6_FareedKhan_prime_synthetic_data_2k_10_32
Author: FareedKhan
Pipeline: sentence-similarity
Library: sentence-transformers
Tags: sentence-transformers, safetensors, bert, sentence-similarity, feature-extraction, generated_from_trainer, dataset_size:1814, loss:MatryoshkaLoss, loss:MultipleNegativesRankingLoss, arxiv:1908.10084, arxiv:2205.13147, arxiv:1705.00652, base_model:flax-sentence-embeddings/all_datasets_v4_MiniLM-L6, base_model:finetune:flax-sentence-embeddings/all_datasets_v4_MiniLM-L6, model-index, text-embeddings-inference, endpoints_compatible, region:us
Base models (finetune): id: flax-sentence-embeddings/all_datasets_v4_MiniLM-L6
Card metadata: base_model: flax-sentence-embeddings/all_datasets_v4_MiniLM-L6
library_name: sentence-transformers
metrics: cosine_accuracy@1, cosine_accuracy@3, cosine_accuracy@5, cosine_accuracy@10, cosine_precision@1, cosine_precision@3, cosine_precision@5, cosine_precision@10, cosine_recall@1, cosine_recall@3, cosine_recall@5, cosine_recall@10, cosine_ndcg@10, cosine_mrr@10, cosine_map@100
pipeline_tag: sentence-similarity
tags: sentence-transformers, sentence-similarity, feature-extraction, generated_from_trainer, dataset_size:1814, loss:MatryoshkaLoss, loss:MultipleNegativesRankingLoss
widget: source_sentence: 

Marshall-Smith syndrome is a rare, genetically determined disorder characterized by a specific set of congenital abnormalities, cognitive challenges, and distinctive facial features. The clinical manifestation and severity can vary notably among individuals, highlighting the syndrome's variable expression.

### Genetic Basis:
Marshall-Smith syndrome is caused by a mutation in the NFIX gene located on the X chromosome. This results in reduced or absent NFIX protein expression, leading to the multisystemic complications observed in this syndrome.

### Features of Marshall-Smith Syndrome:

#### Facial Anomalies:
- **Depressed nasal bridge** - a noticeable flattening of the bridge of the nose.
- **Anteverted nostrils** - the nostrils are tilted upward, often giving the nose a wide, open appearance.
- **Retrognathia** - a condition where the jaw is positioned further back than normal, often leading to an inaccurate assessment of short stature.

#### Hearing and Vision:
- **Hearing impairment** - can result from various causes, often requiring hearing aids or cochlear implants for support.
- **Vision problems** - including myopia, astigmatism, and in some cases, optic atrophy leading to vision loss.

#### Other Congenital Abnormalities:
- **Short stature** - growth patterns are often below the normal range due to a combination of genetic and hormonal factors.
- **Generalized hypotonia** - reduced muscle tone, which can affect motor skills and development.
- **Cardiovascular issues** - such as atrial septal defects and pulmonary arterial hypertension that can affect the heart's function.
- **Intellectual disability** - varying in severity, this can significantly impact the patient’s ability to learn and perform daily activities.
- **Bowing of the long bones** - a common skeletal abnormality contributing to the distinctive bone structure.
- **Short distal phalanx of the finger** - shortening of the finger tips, altering the anatomy of the fingers.

### Management and Treatment:
- **Symptomatic treatment** is often the primary approach, focusing on managing specific symptoms such as airway obstruction, respiratory infections, and feeding difficulties.
- **Specialized care** including speech therapy, physical therapy, and occupational therapy can help improve life quality and functional skills.
- **Genetic counseling** is important for family planning
sentences: Please find genes encoding proteins that combine leucine-rich repeat motifs and neurotrophin receptor-like features, interact functionally with receptor-type tyrosine-protein phosphatase pathways, and may influence neuritic modulation., Which novel recombinant fibrinolytics with a direct action have demonstrated an affinity for binding to the FGB gene or protein and are known for their rapid fibrin degradation?, Could you assist in identifying potential conditions associated with overgrowth syndrome in my child? They exhibit ventriculomegaly and experience difficulties with feeding and breathing, suggesting airway abnormalities., source_sentence: 
Based on the provided information, the patient is experiencing a wide range of symptoms that can be categorized into several health issues. Here is a possible breakdown:

1. **Respiratory System**: Symptoms include lower respiratory tract infection, tachycardia, stridor, dyspnea, cardiovascular collapse, and lung edema.

2. **Gastrointestinal System**: Indicated by nausea, vomiting, diarrhea, malnutrition, abdominal pain, bloating, and mouth pain. There are also indications of pulmonary effects on this system.

3. **Cardiovascular System**: Manifests through heart disease (heart attack, fibrillation, angina), heart failure, dyspnea on exertion, and fatigue.

4. **Musculoskeletal System**: Exhibits symptoms of bone pain, osteoarthritis, myalgia (muscle pain), muscle weakness, and joint pain.

5. **Nervous System**: Shows signs of seizures, headache, dizziness, and cognitive changes such as confusion and insomnia.

6. **Endocrine System**: Symptoms include hyperglycemia, hypernatremia, and thyroid disorder (hyperthyroidism).

7. **Skin and Mucous Membranes**: Displays symptoms like acne, flushing
sentences: I'm experiencing prolonged bleeding times with minor cuts and have a family history of liver problems. Can you suggest any long-acting medications that could help, ideally ones with a dosage frequency of more than 24 hours?, Can you list the diseases where abulia appears as a symptom and are associated with the PSEN1 gene, especially those causing a severe decline in semantic knowledge regardless of sensory modality?, Which transporter gene or protein, known to facilitate drug transport and playing a role in bile acid secretion, could elucidate the synergistic effects observed when Carbenicillin is used in combination with other compounds?, source_sentence: 

Based on the provided information, the gene is expressed in various tissues and systems across the body. Here is a summary of the tissues and systems where expression was detected:

1. Nervous System: Dorsal root ganglion, cerebral cortex, central nervous system, spinal cord, neocortex, substantia nigra, amygdala, hypothalamus, hippocampus (Ammon's horn), cingulate cortex, entorhinal cortex, frontal cortex, parietal lobe, occipital lobe, temporal lobe, lateral hypothalamus, amygdala, hippocampus, prefrontal cortex.

2. Endocrine System: Pituitary gland, islet of Langerhans (pancreatic islets).

3. Musculoskeletal System: Muscle tissue (skeletal, smooth), tendon, quadriceps femoris, vastus lateralis, deltoid, biceps brachii, quadriceps, tongue, palpebral conjunctiva, nasal cavity mucosa, gingiva.

4. Digestive System: Stomach, large intestine, small intestine, colon (sigmoid colon), duodenum, jejunum, cerebral cortex (cerebellum), muscle of leg, myocardium, peritoneum (lining of abdominal cavity and organs).

5. Excretory System: Renal glomerulus, nephron tubules, kidney (adult mammalian kidney), urinary bladder, pancreas, adrenal cortex, prostate gland, thyroid gland.

6. Reproductive System: Female reproductive system (uterus, vagina, cervix epithelium, oviduct epithelium), mammary gland.

7. Respiratory System: Bronchioles, bronchus, trachea.

8. Lymphatic System: L
sentences: Which pharmaceutical agents exhibit a synergistic effect with Tiaprofenic acid in the treatment of specific conditions and are additionally efficacious against infections resulting from sensitive gram-negative and select gram-positive bacterial strains?, For our lung cancer molecular mechanism study, please locate genes and proteins that interact with the NGF-induced transcription pathway and regulate cytokine gene expression. These should be linked to lung cancer development and capable of sequence-specific double-stranded DNA binding., What is the name of the skin disorder associated with melanocytic nevi that appears as raised, discolored spots larger than 6mm with uneven edges and has a higher chance of developing into melanoma?, source_sentence: 
MYT1, also known by aliases such as C20orf36, MTF1, MYTI, NZF2, PLPB1, ZC2H2C1, and ZC2HC4A, is a gene located on chromosome 20 with a genomic position from 64102394 to 64242253. It encodes a gene with the name myelin transcription factor 1, classified as a gene/protein with RefSeq ID ENSG00000196132. This protein belongs to a family of neural-specific zinc finger-containing DNA-binding proteins. It binds to the promoter regions of proteolipid proteins in the central nervous system and plays a role in the developing nervous system. MYT1 is predominantly expressed in the pituitary gland, intestine, prefrontal cortex, brain, testis, female reproductive system, adipose tissue, and various parts of the nervous system like
sentences: What type of skin cancer presents with symptoms like fever, general discomfort, muscle pain, and skin rashes?, Identify the gene or protein that is not expressed in the stomach's fundus as well as the biceps brachii muscle., Could you recommend any medications to avoid for a patient with recurrent otitis media and a current ear infection?, source_sentence: 
Atypical hemolytic uremic syndrome (aHUS) with H factor anomaly is a disease characterized by an atypical form of hemolytic uremic syndrome, a severe thrombotic microangiopathy that leads to kidney failure, anemia, and thrombocytopenia. This specific subtype of aHUS is notable for its association with an anomaly in the H factor, potentially involving complement system dysregulation. As such, it falls under the broader category of hemolytic uremic syndrome, a condition marked by differential diagnosis complexity and distinct etiologies. Patients with aHUS often require a nuanced approach to diagnosis and management, emphasizing awareness of its distinct characteristics in comparison with other forms of hemolytic uremic syndrome, ensuring comprehensive and accurate differential diagnosis which might include conditions like thrombotic thrombocytopenic purpura (TTP) or disseminated intravascular coagulation (DIC). The identification and management of aHUS with H factor anomaly necessitates multidisciplinary collaboration and up-to-date knowledge alongside genetic and clinical features specific to this condition.
sentences: Which diseases are associated with anomalies in the CD4 gene or protein, alongside genetic mutations that impact muscle protein synthesis?, Identify genes responsible for encoding TRAF proteins involved in TNF-alpha signaling and interacting with procaspase-8 dimerization., Could you list the diseases related to or subtypes of type 1 atypical hemolytic uremic syndrome for differential diagnosis purposes?
model-index: name: SentenceTransformer based on flax-sentence-embeddings/all_datasets_v4_MiniLM-L6
results: task: type: information-retrieval
name: Information Retrieval
dataset: name: dim 384
type: dim_384
metrics: type: cosine_accuracy@1
value: 0.38613861386138615
name: Cosine Accuracy@1
verified: no, type: cosine_accuracy@3
value: 0.4603960396039604
name: Cosine Accuracy@3
verified: no, type: cosine_accuracy@5
value: 0.4900990099009901
name: Cosine Accuracy@5
verified: no, type: cosine_accuracy@10
value: 0.5148514851485149
name: Cosine Accuracy@10
verified: no, type: cosine_precision@1
value: 0.38613861386138615
name: Cosine Precision@1
verified: no, type: cosine_precision@3
value: 0.15346534653465344
name: Cosine Precision@3
verified: no, type: cosine_precision@5
value: 0.09801980198019801
name: Cosine Precision@5
verified: no, type: cosine_precision@10
value: 0.051485148514851475
name: Cosine Precision@10
verified: no, type: cosine_recall@1
value: 0.38613861386138615
name: Cosine Recall@1
verified: no, type: cosine_recall@3
value: 0.4603960396039604
name: Cosine Recall@3
verified: no, type: cosine_recall@5
value: 0.4900990099009901
name: Cosine Recall@5
verified: no, type: cosine_recall@10
value: 0.5148514851485149
name: Cosine Recall@10
verified: no, type: cosine_ndcg@10
value: 0.4513969702702722
name: Cosine Ndcg@10
verified: no, type: cosine_mrr@10
value: 0.4312018701870188
name: Cosine Mrr@10
verified: no, type: cosine_map@100
value: 0.43826346901869045
name: Cosine Map@100
verified: no
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Created: 2024-09-30 11:22:05