Other joint deformities present to some degree are "trigger finger" deformities found in the middle fingers and thumbs. [disorders.eyes.arizona.edu]

Acronym APUG Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

(Wednesday, May 29th 3:30-5:30 pm) ClinGen Posters and Presentations - ACMG 2019 Gene Disease Validity General Training Presentation Updated February 2018. [clinicalgenome.org]

Epidemiology incidence affects 1 in 10,000 children demographics 4-8 years is most common age of presentation male to female ratio is 5:1 higher incidence in urban areas socioeconomic class higher among lower socioeconomic class latitude higher incidence [orthobullets.com]

• Sepsis

  […] emergencies -- Cyanosis -- Cardiogenic pulmonary oedema -- Cardiogenic shock -- Arrhythmias -- Acute encephalopathic illness -- Convulsive status epilepticus -- Other encephalopathic illness -- Diabetic ketoacidosis -- Acute respiratory distress syndrome -- Sepsis [worldcat.org]

  […] tuberculous (acute) (chronic) (see also Tuberculosis) 016.6 venereal (chronic) 098.37 acute 098.17 Salpingocele 620.4 Salpingo-oophoritis (catarrhal) (purulent) (ruptured) (septic) (suppurative) 614.2 acute 614.0 with abortion - see Abortion, by type, with sepsis [theodora.com]

  […] antigenic ___ occurs annually antigenic ___ occurs every 7-10 years Definition Term spread person-person via aerosols s/s: sudden onset fever, chills, malaise, HA, myalgia, cough, coryza, pharyngitis kids: fever, vomiting, diarrhea, abd pain infants: sepsis [flashcardmachine.com]

• Chills

  […] agent: bacteria - presents in low pressure regions or defects - body attempts to close off with thrombus and bacteria adhere to and proliferate in thrombus - reducing the availability of abx access commonly strep viridans and staph aureus sx: fever, chills [flashcardmachine.com]

• Surgical Procedure

  procedure 998.0 transfusion NEC 999.8 bone marrow 996.85 following abortion 639.5 ectopic or molar pregnancy 639.5 surgical procedure 998.0 transfusion NEC 999.8 bone marrow 996.85 spinal - see also Injury, spinal, by site with spinal bone injury - see [theodora.com]

• Cough

  Definition pertussis tx: -mycins, hospitalize if close contacts should have booster + 14 days of -mycins Term wheezing, coughing, nighttime cough, feeling of chest tightness, SOB brought on by triggers dx via spirometry mild: FEV1 > 80% moderate: 60-80% [flashcardmachine.com]

  0002021 Pyloric stenosis Show HP:0002089 Pulmonary hypoplasia Show HP:0002099 Asthma "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough [manteia.igbmc.fr]

  […] type NEC V74.8 stimulants in athletes V70.3 syphilis V74.5 tetanus V74.8 thyroid disorder V77.0 trachoma V73.6 trypanosomiasis V75.3 tuberculosis, pulmonary V74.1 venereal disease V74.5 viral encephalitis mosquito-borne V73.5 tick-borne V73.5 whooping cough [theodora.com]

• Fracture

  […] around the elbow -- Lower limb injuries -- Pathological fractures -- Further reading -- ch. 22 Urology Congenital urine flow anomalies -- Hydronephrosis/Dilatation -- Pelviureteric junction anomaly (PUJA) -- Vesicoureteric junction anomaly (megaureter [worldcat.org]

  fracture - see Fracture, by site infundibulum cardiac from right ventricle by a partition 746.83 joint (current) (traumatic) - see Dislocation, by site placenta (normally implanted) - see Placenta, separation pubic bone, obstetrical trauma 665.6 retina [theodora.com]

  […] joint space widening (earliest) from less ossification of head measured between teardrop and ossification center irregularity of femoral head ossification decreased size of ossification center sclerotic appearance cresent sign (represents a subchondral fracture [orthobullets.com]

  […] hypermobility syndrome 644 (1) 645 (1) Neuromuscular conditions with orthopaedic concerns 645 (2) 645 (2) 647 (1) 647 (5) 647 (1) 647 (2) Scheuermann disease (kyphosis) 649 (1) 649 (1) 649 (1) 650 (2) Specific paediatric injuries 652 (7) 652 (1) 653 (1) Fractures [kriso.ee]

  Definition Klumpke's palsy tx: surgery to nerves in kids w/ no spontaneous recovery by 6-9 mos, PT Term aka compression fracture. typically in distal radius of young kids. heal in 2-3 weeks with immobilization Definition Term most common birth fracture [flashcardmachine.com]

• Torticollis

  […] infection (osteomyelitis and septic arthritis) -- Transient synovitis vs. septic arthritis -- Lcgg -- Calve -- Pcrthcs disease (often called Perthes disease) -- Slipped upper femoral epiphysis -- Upper limb abnormalities -- Neonatal brachial plexopathy -- Torticollis [worldcat.org]

  […] circle during the swing phase, such as to allow clearance of a longer leg Definition 1. antalgic 2. abductor 3. equinus 4. circumduction Term aka clubfoot - hindfoot equinus + forefoot adduction + varus + midfoot cavus (high arch) r/o hip dysplasia and torticollis [flashcardmachine.com]

  […] exudativum) 695.1 Stewart-Morel syndrome (hyperostosis frontalis interna) 733.3 Sticker's disease (erythema infectiosum) 057.0 Stickler syndrome 759.89 Sticky eye 372.03 Stieda's disease (calcification, knee joint) 726.62 Stiff back 724.8 neck (see also Torticollis [theodora.com]

Treatment Treatment Options: Flexion deformities may be at least partially alleviated by surgery and is especially beneficial for digital function. Pyloric stenosis and cardiac valve disease may respond to surgery. [disorders.eyes.arizona.edu]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Adjunctive therapies for treatment of bone and other involvement may be needed. The variable penetrance and expressivity of Gaucher disease significantly impacts the complexity of patient care and genetic counseling. [ommbid.mhmedical.com]

Diagnosis and Prognosis: There is no treatment for the overall condition. However, surgery can release the traction causing the restricted motion and this is especially helpful in the digits of the hands. There is no apparent effect on longevity. [disorders.eyes.arizona.edu]

[…] result from epiphyseal bone resorption, collapse, and the effect of subsequent repair during the course of disease maternal / passive smoking aggravates Associated conditions associated with ADHD in 33% of cases bone age is delayed in 89% of patients Prognosis [orthobullets.com]

Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9. [clinicalgenome.org]

Definition Klinefelter's tx: testosterone replacement prognosis: higher risk of breast cancer, DM, hypothyroid/parathyroid, SLE, sjogrens, RA Term s/s: open lesion with skin-covered lesion clubfeet, dislocated hips, flaccid paralysis below lesion associated [flashcardmachine.com]

[…] revascularization with subsequent resorption and later collapse creeping substitution provides pathway for remodeling after collapse proposed mechanisms possible association with abnormal clotting factors (Protein S and Protein C deficiencies) controversial etiology [orthobullets.com]

Rough, red plaques without thick scales effect face, neck and upper trunk Definition Term mild, acute, inflammatory eruption of unknown etiology herald patch followed by christmas tree distribution Definition Term contagious and autoinnoculable infection [flashcardmachine.com]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Relevant External Links for NEK9 Genetic Association Database (GAD) NEK9 Human Genome Epidemiology (HuGE) Navigator NEK9 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NEK9 No data available for Genatlas for NEK9 Gene Purification, cloning [genecards.org]

Epidemiology incidence affects 1 in 10,000 children demographics 4-8 years is most common age of presentation male to female ratio is 5:1 higher incidence in urban areas socioeconomic class higher among lower socioeconomic class latitude higher incidence [orthobullets.com]

The product of a world center of excellence in teaching and medical and surgical practice, second edition of a bestseller combines the advantages of a colour atlas with those of a short textbook covering clinical features, epidemiology, investigations [kriso.ee]

[…] involvement rarely at the same stage of disease symmetrical involvement suggests MED (multiple epiphyseal dysplasia) risk factors positive family history low birth weight abnormal birth presentation second hand smoke Asian, Inuit, and Central European decent Pathophysiology [orthobullets.com]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

Clinical Actionability Tools Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known [clinicalgenome.org]