Presentation
Textbook of Pediatric Rheumatology examines the full spectrum of rheumatologic diseases and non-rheumatologic musculoskeletal disorders in children and adolescents, detailing the presentation, differential diagnosis, course, management, and prognosis [books.google.com]
ST segment elevation in a patient presenting with renal colic pain. Saudi J Kidney Dis Transpl 2011;22:998-1002 How to cite this URL: Al Aseri Z, Suriya OM, Hassan HA. ST segment elevation in a patient presenting with renal colic pain. [sjkdt.org]
An initial painless swelling of the proximal interphalangeal joints, with eventual development of pain and deformity is the typical clinical presentation. [radiopaedia.org]
Patients with neuroacanthocytosis also may present with dementia and chorea, yet the acanthocyte hallmark pathology helps differentiate this disease. [emedicine.medscape.com]
Entire Body System
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Swelling
No similar swelling was noted in other fingers or toes. X-ray showed a soft-tissue swelling over radial aspect of PIP joint of both ring fingers. The blood investigation was normal. [jpgmonline.com]
The evolution of joint swelling is insidious; it seems to be more prone to symmetrical development, but it is often predominant in 1 or a few joints 3. [synapse.koreamed.org]
Clinical manifestations may be quite mild, consisting of local pain, tenderness, swelling and decreased range of motion. Radiographically there are changes similar to Legg-Calve-Perthes disease. [dynamicchiropractic.com]
[…] following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3314Disease definitionThiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling [malacards.org]
His symptoms began aged 14 years with swelling but no pain or disability of his distal interphalangeal (DIP) and proximal interphalangeal (PIP) finger joints. [ard.bmj.com]
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Fatigue
Skeletal muscle fatigue: cellular mecha-nisms. Physiol Rev 88: 287–332. 連結: Andrea I.M., Peter V.B., Margaret A.P. et al. (1992). [airitilibrary.com]
Skeletal muscle fatigue: cellular mecha-nisms. Physiol Rev 88: 287–332. Andrea I.M., Peter V.B., Margaret A.P. et al. (1992). [ndltd.ncl.edu.tw]
In some individuals the disease is totally asymptomatic; others may experience fatigue, defective posture, aching pain aggravated by physical exertion and tenderness to palpation. An increase in the thoracic kyphosis is a common finding. [dynamicchiropractic.com]
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Falling
Men fall ill significantly more often as a result of conflicts in the area of ‘occupation and profession’, women in the area of ‘love, sex and reproduction’ (p 0.001). [karger.com]
Others There are other families that do not fall neatly into any of these classifications. That described by Oski is one such (Oski et al, 1969). Also, Jarvis et al 2001. [ucl.ac.uk]
Children involved in motor vehicle accidents, contact sports, and falls from a height can sustain hand trauma in the setting of head, cervical spine, wrist, elbow, or shoulder girdle injuries, such as clavicular fractures. [musculoskeletalkey.com]
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Short Finger
[…] the wide portion of a long bone 0000944 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Broad phalanx Wide digital bones 0006009 Short phalanx of finger Short finger bones 0009803 Showing of [rarediseases.info.nih.gov]
Radiography of the hands revealed cone-shaped phalangeal epiphyses in 5 probands and one proband had short fingers in one study. [disorders.eyes.arizona.edu]
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Inflammation
[…] dominant hereditary disease with strong penetrance, resulting in an equal sex distribution, 4 and also as sporadic cases showing a threefold male dominance. 2 Histological investigation has shown aseptic necrosis of the bone with normal vessels and no inflammation [ard.bmj.com]
Gastrointestinal
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Nausea
[…] be reported. [1] A 34- year- old male with a history of renal stones presented in the emergency department of the King Khalid University Hospital, Riyadh, Saudi Arabia, because of severe left loin pain that was radiating to the left testis, and mild nausea [sjkdt.org]
Cardiovascular
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Heart Disease
Stay on top of the latest advances in molecular imaging, intravascular ultrasound, cardiovascular regeneration and tissue engineering, device therapy for advanced heart failure, atrial fibrillation management, structural heart disease, Chagasic heart [books.google.com]
But I think that getting in touch with these powerful hidden emotions and becoming aware of their contribution to heart disease is critical to healing and protecting the heart .” – Heartbreak and Heart Disease (1999). [heartmdinstitute.com]
disease alongside teaching duties in survival analysis and statistics in epidemiology. [phpc.cam.ac.uk]
187395 Teratocarcinoma-Derived Growth Factor 1; TDGF1 OMIM:166950 Teratoma, Ovarian OMIM:273120 Teratoma, Pineal OMIM:300244 Terminal Osseous Dysplasia; TOD OMIM:273150 Testes, Rudimentary OMIM:615542 Testicular Anomalies with or without Congenital Heart [informatics.jax.org]
There was no history of smoking, alcohol abuse, or use of illicit drugs, including cocaine, or family history of heart disease or any previous hospitalization for cardiac or any other problem. [sjkdt.org]
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Heart Failure
Stay on top of the latest advances in molecular imaging, intravascular ultrasound, cardiovascular regeneration and tissue engineering, device therapy for advanced heart failure, atrial fibrillation management, structural heart disease, Chagasic heart [books.google.com]
The short-term use of standard medications for heart failure due to systolic dysfunction is recommended by experts. References Kurowski V, Kaiser A, von Hof K, et al. [wikiecho.org]
The sudden release of stress hormones in response to severe emotional stress literally stuns the heart, and can cause symptoms like chest pain, shortness of breath and even heart failure. [heartmdinstitute.com]
Musculoskeletal
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Brachydactyly
Symptoms and clinical features of the condition may include: 1 Clinical Features of Thiemann disease, familial form : Abnormality of the metaphysis Brachydactyly Limitation of joint mobility Abnormality of epiphysis morphology Aseptic necrosis • • • Back [familydiagnosis.com]
HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB Is also known as brachydactyly with hypertension, brachydactyly, type e, with short stature and hypertension, bilginturan syndrome;bilginturan brachydactyly; bilginturan syndrome; brachydactyly type e, with [mendelian.co]
Showing of 8 80%-99% of people have these symptoms Abnormality of epiphysis morphology Abnormal shape of end part of bone 0005930 Aseptic necrosis Death of bone due to decreased blood supply 0010885 30%-79% of people have these symptoms Brachydactyly [rarediseases.info.nih.gov]
188150 Thumb Deformity and Alopecia OMIM:274200 Thumb, Distal Hyperextensibility of OMIM:274205 Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness OMIM:314100 Thumbs, Congenital Clasped OMIM:188201 Thumbs, Stiff, with Brachydactyly [informatics.jax.org]
Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly [bioreference.net]
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Arthritis
Tap into detailed discussions of recent advances in the field, new research on the immunologic mechanisms of inflammatory disease, and new developments on biologic treatments for arthritis in ten new chapters. [books.google.com]
Gout, Seronegative arthropathies Septic arthritis, Paget's disease, Avascular necrosis, Thiemann's disease Osteochondrosis affecting the hands, Obesity, Previous fractures and trauma Perthes disease, Congenital dislocation of the hip Activities which [doknotes.wikidot.com]
The clinical symptoms usually appear in adolescence or puberty and may be confused with juvenile rheumatoid arthritis. [journals.lww.com]
In addition, all arthropathies involving the PIP joints should be considered and especially juvenile chronic arthritis and juvenile rheumatoid arthritis. Because of the benign course of PDD, most patients do not require therapy. [synapse.koreamed.org]
Influence of life-style choices on locomotor disability, arthritis and cardiovascular disease in older women: prospective cohort study. Age Ageing 2013. Lawlor DA, Kim LG, Carson C, Whincup P, Ebrahim S. [phpc.cam.ac.uk]
Neurologic
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Excitement
Chloride conductance in the transverse tubular system of rat skeletal muscle fibres: importance in excitation contraction coupling and fatigue. J Physiol 586(3): 875–887. 連結: Dutzler R., Campbell E.B., Cadene M., et al. (2002). [airitilibrary.com]
Chloride conductance in the transverse tubular system of rat skeletal muscle fibres: importance in excitation contraction coupling and fatigue. J Physiol 586(3): 875–887. Dutzler R., Campbell E.B., Cadene M., et al. (2002). [ndltd.ncl.edu.tw]
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Chorea
A reversible adult chorea can also develop in association with lupus erythematosus or thyrotoxicosis. Reversible adult chorea has an abrupt onset and gradually disappears within weeks or months. [emedicine.medscape.com]
The mechanism of acanthocytosis in chorea-acanthocytosis is unknown. [medtextfree.wordpress.com]
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Cognitive Impairment
Many conditions must be considered when diagnosing Huntington dementia, as follows: Genetic disorders Genetic disorders to consider in the differential of an adult patient who has cognitive impairment with chorea include dentatorubropallidoluysian and [emedicine.medscape.com]
Onset
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Onset in Adolescence
[…] in adolescence or adult life.22 Chorea-acanthocytosis is characterized by progressive orofacial dyskineses with tics, limb chorea, lip and tongue biting; neurogenic muscle hypotonia and atrophy; absent or diminished reflexes; and increased serum creatine [medtextfree.wordpress.com]
Workup
Materials and Methods Patients and Controls MSK patients followed up at the nephrology divisions of the university hospitals in Padova and Verona were renal stone formers whose MSK was diagnosed during the workup for recurrent calcium nephrolithiasis [cjasn.asnjournals.org]
A workup for suspected child abuse or benign neglect may be indicated if the history places a child in a high-risk environment or home alone. [musculoskeletalkey.com]
Treatment
Lindsley discuss recent developments in diagnosis, treatment, genetics, immunology, imaging, and more. [books.google.com]
Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]
Furthermore, some patients want to undergo treatment to rectify the deformity's appearance. Topical treatment with corticosteroids is ineffective. Intralesional injections of steroids often provide good results 11. [synapse.koreamed.org]
Treatment and prognosis Treatment is usually conservative, although in severe disease arthrodeses or arthroplasties may be needed. History and etymology The condition was first reported by a German physician H Thiemann in 1909 6,8. [radiopaedia.org]
Specifically, acute leukemia patients are often colonized with MRE, probably due to the impaired CR as a result of intensive antibiotic treatments these patients receive. [oatd.org]
Prognosis
Textbook of Pediatric Rheumatology examines the full spectrum of rheumatologic diseases and non-rheumatologic musculoskeletal disorders in children and adolescents, detailing the presentation, differential diagnosis, course, management, and prognosis [books.google.com]
Treatment and prognosis Treatment is usually conservative, although in severe disease arthrodeses or arthroplasties may be needed. History and etymology The condition was first reported by a German physician H Thiemann in 1909 6,8. [radiopaedia.org]
[…] course; a follow up of seven patients presenting in adolescence found only two had continuing long term symptoms, and radiographs after growth plate closure showed normal phalangeal dimensions without arthrosis in four patients. 6 Trauma may worsen the prognosis [ard.bmj.com]
Four-year recurrence rate and prognosis of the apical ballooning syndrome. J Am Coll Cardiol 2007; 50:448. [wikiecho.org]
THERAPY, COURSE, AND PROGNOSIS The majority of hydrocytosis patients suffer from significant lifelong anemia. [medtextfree.wordpress.com]
Etiology
Thiemann disease (also called familial osteoarthropathy of the fingers or osteonecrosis of the base of phalanx ) is a non-inflammatory disorder of unknown etiology and refers to osteonecrosis of the epiphyses of the phalanges which leads to deformity [radiopaedia.org]
The etiology of Freiberg's infraction is felt to be due to the wearing of high heeled shoes at an early age. Keinbock's disease is a peculiar affliction of the carpal lunate. [dynamicchiropractic.com]
The etiology of these disorders of cation permeability is unknown. [medtextfree.wordpress.com]
This phenomenon is not confined only to ischemic injury, and various other etiological factors have been described in relation to ST segment elevation. [sjkdt.org]
We have enrolled the biggest MSK population on a national level and conducted a mutation analysis on the genes that we identified as likely candidates for the disease's etiology. [cjasn.asnjournals.org]
Epidemiology
Research Interests Co-Module Organiser for Statistics in Epidemiology by distance-learning (LSHTM) Selected Publications Kim LG, Caplin B, Cleary F, Hull SA, Griffiths K, Wheeler DC, Nitsch D. [phpc.cam.ac.uk]
The ossific nucleus of each carpal bone is cloaked in a cartilaginous cover during development, which is thought to provide a unique shelter from injury. 11, 72 This observation is supported by epidemiologic studies of scaphoid fractures that highlight [musculoskeletalkey.com]
Pathophysiology
[…] intellectual disability, short stature, microcephaly and Dent disease: a case report Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus & Denise Horn BMC Medical Genomics (2019) Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology [nature.com]
Hereditary stomatocytosis (also known as hereditary hydrocytosis, or overhydrated stomatocytosis) refers to a heterogeneous group of autosomal dominant hemolytic anemias caused by altered sodium permeability of the RBC membrane. [3] The major pathophysiologic [mjdrdypu.org]
Ellory JC, Gibson JS, Stewart GW: Pathophysiology of abnormal cell volume in human red cells. Contrib Nephrol 123:220, 1998. 45. [medtextfree.wordpress.com]
Physiology and Pathophysiology of CLC-1: Mechanisms of a Chloride Channel Disease, Myotonia. J Biomed Biotechnol 685328. 連結: Timothy M.M. (2008). Differential diagnosis of myotonic disorder. Muscle Nerve 37: 293–299. [airitilibrary.com]
Physiology and Pathophysiology of CLC-1: Mechanisms of a Chloride Channel Disease, Myotonia. J Biomed Biotechnol 685328. Timothy M.M. (2008). Differential diagnosis of myotonic disorder. Muscle Nerve 37: 293–299. [ndltd.ncl.edu.tw]
Prevention
A prompt diagnosis would prevent unnecessary investigations, reassure the patient and avert inappropriate treatment. [synapse.koreamed.org]
I believe the ability to feel emotions deeply, to cry during times of intense sadness and heartbreak are essential in the prevention of heart disease. Like crying, laughing can also be a tremendous remedy for our hearts. [heartmdinstitute.com]
In these polytrauma cases, treatment decision making may be driven by a need for earlier stabilization to allow the child the ability to use crutches or prevent fracture displacement during rehabilitation of other injuries. [musculoskeletalkey.com]
Data regarding anticoagulation therapy in order to prevent thromboembolism are sparse. [wikiecho.org]
Aspirin and dipyridamole in the prevention of acute coronary thrombosis complicating coronary angioplasty. Circulation 1987 ;76: 125 - 134 33. Lembo NJ, Black AJR, Roubin GS, et al. [nejm.org]