ORPHA:1937 Synonym(s): Short stature-locking fingers syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: Antenatal, Neonatal ICD-10: Q87.1 OMIM: 135950 UMLS: C2931545 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Areas of ongoing research that highlight the minimally invasive approach as well as incorporating what we know of the biochemical results of surgery are presented. [books.google.com]

Visual acuity at presentation in the nine affected eyes ranged from 20/20 to count fingers. Vision loss was gradual in both eyes of one patient and was abrupt in onset in seven eyes. [scholars.northwestern.edu]

She presented to the ED again after 2 days and was correctly diagnosed with Ramsay Hunt syndrome. We describe the clinical presentation, diagnostic findings and management of this uncommon but important entity. [cambridge.org]

Editor: Katherine Yao, MD Patient Presentation: Patient is a 17-year-old male athlete who presented with chief complaints of left foot coolness, numbness, and discomfort with activity. [amssm.org]

• Sepsis

  toxic shock syndrome or gram negative sepsis). In these cases the causes are more related to “always on” T-cell activation (stuck accelerator). [sinobiological.com]

  Differential diagnosis [ edit ] Neonatal jaundice may develop in the presence of sepsis, hypoxia, hypoglycemia, hypothyroidism, hypertrophic pyloric stenosis, galactosemia, fructosemia, etc. [en.wikipedia.org]

  In terms of severe sepsis, a previous, randomized, multicentre phase III trial reported that anakinra failed to demonstrate a statistically significant reduction in 28‐day mortality [96]. [onlinelibrary.wiley.com]

  However, when more than 30% BSA sloughing is present, the mortality rate is between 25% and 35%, and may be as high as 50%. [31, 26] Bacteremia and sepsis appear to play a major role in increased mortality. [32] The SCORTEN score (a severity-of-illness [emedicine.medscape.com]

• Short Stature

  ORPHA:1937 Synonym(s): Short stature-locking fingers syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: Antenatal, Neonatal ICD-10: Q87.1 OMIM: 135950 UMLS: C2931545 MeSH: - GARD: - MedDRA: - The documents contained in this web site are [orpha.net]

  Poor feeding and hypotonia in the neonatal period are usually present and physical growth is subnormal resulting in short stature. [disorders.eyes.arizona.edu]

  View Article PubMed Google Scholar MacDermot KD, Patton MA, Williams MJ, Winter RM: Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. J Med Genet. 1989, 26 (6): 382-385. [bmcmedgenet.biomedcentral.com]

• Sneezing

  It generally involves a runny nose, nasal congestion, and sneezing.... [ncbi.nlm.nih.gov]

  Human-to-human transmission of SARS-CoV-2 is through respiratory droplets, which are especially generated when an infected individual (even if asymptomatic) coughs or sneezes. [atm.amegroups.com]

  Transmission of COVID-19 appears to occur primarily through dispersal of droplets generated from the respiratory tract when an infected person talks, coughs, or sneezes. [dovepress.com]

• Acute Coryza

  Recent activity Clear Turn Off Turn On eng strom syndrome (6) OMIM Acute Coryza (1) MeSH Common Cold Common Cold A catarrhal disorder of the upper respiratory tract, which may be viral or a mixed infection. [ncbi.nlm.nih.gov]

• Nasal Congestion

  It generally involves a runny nose, nasal congestion, and sneezing.... [ncbi.nlm.nih.gov]

• Common Cold

  Recent activity Clear Turn Off Turn On eng strom syndrome (6) OMIM Acute Coryza (1) MeSH Common Cold Common Cold A catarrhal disorder of the upper respiratory tract, which may be viral or a mixed infection. [ncbi.nlm.nih.gov]

• Kidney Failure

  Sleep medicine Symptoms Unpleasant feeling in the legs that briefly improves with moving them [2] Complications Daytime sleepiness, low energy, irritability, depressed mood [2] Usual onset More common with older age [3] Risk factors Low iron levels, kidney [en.wikipedia.org]

• Ataxia

  *607585 - ATAXIA-TELANGIECTASIA MUTATED GENE; ATM Cytogenetic locations: 11q22.3 OMIM: 607585 Gene summaries Genetic tests Medical literature Select item 603031 6. *603031 - TOLL-LIKE RECEPTOR 5; TLR5 Cytogenetic locations: 1q41 OMIM: 603031 Gene summaries [ncbi.nlm.nih.gov]

  Type two patients have a greater degree of confusion and ataxia (loss of coordination). [medical-dictionary.thefreedictionary.com]

  The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. [ojrd.biomedcentral.com]

  The rarer manifestations of the syndrome are neurological manifestations (truncal ataxia, monoclonal cramps, severe apnea, dementia) psychiatric disorders, changes in motility of the gastrointestinal tract. [research-journal.org]

  A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand in girls: Rett syndrome: report of 35 cases. Annals of Neurology. 1983, 14: 471-479. [socialstyrelsen.se]

• Cognitive Impairment

  Can silent brain lesions be a target to guide anticoagulation treatment in patients with low-risk atrial fibrillation to reduce cognitive impairment?. J Am Coll Cardiol. 2014;63:2174-5. 6. [revespcardiol.org]

  Gadoth N, Oksenberg A. 2016 Long-Term Cognitive Impairment in Kleine-Levin Syndrome Sleep. 2016 Feb 1;39(2):429-38. doi: 10.5665/sleep.5458. Uguccioni G, Lavault S, Chaumereuil C, Golmard JL, Gagnon JF, Arnulf I.. [kls-support.org.uk]

  During episodes, all patients had hypersomnia, cognitive impairment, and derealization; 66% had megaphagia; 53% reported hypersexuality (principally men); and 53% reported a depressed mood (predominantly women). [klsfoundation.org]

  Many individuals have a severe cognitive impairment. Those with Rett syndrome understand much more, and take in more impressions and experiences, than they can express. [socialstyrelsen.se]

(See Pathophysiology, Etiology, and Workup.) [emedicine.medscape.com]

Specifically for diabetes, this textbook will provide a guide for practitioners to a tailored approach to the treatment. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The effects of a nonsurgical treatment for obstructive sleep apnea. The tongue-retaining device. JAMA. 1982;248(6):705-9. . Meyer-Ewert K, Schäfer H, Kloss W. Treatment of sleep apnea by mandibular protecting device. [revistas.unal.edu.co]

Clinic, diagnostics, treatment. Russian Medical Journal. 2014;10:723–7. Hitrov NA. Pain in the shoulder and periarthritis of the shoulder joint: diagnosis and treatment. Polyclinic. 2015;1:40–6. Solokha OA. [otp-journal.com.ua]

Clinical observations, with special reference to factors influencing prognosis, Rev. Infect. [books.google.it]

In-hospital mortality was reduced in high-risk patients, and prognosis after discharge was the same in both periods. [revespcardiol.org]

The latter develops at a later date after infection (after 20-30 years) and aggravates the prognosis for the patient’s life. [research-journal.org]

Prognosis Waldenström macroglobulinemia is an indolent disorder, and patients survive for a median of approximately 78 months. [emedicine.medscape.com]

Haematological characteristics and risk factors in the classification and prognosis evaluation of COVID-19: a retrospective cohort study. Lancet Haematol. 2020 Sep;7(9):e671-e678. doi: 10.1016/S2352-3026(20)30217-9. Epub 2020 Jul 10. [clinicaltrials.gov]

Secondary piriformis syndrome (pelvic outlet syndrome) - This classification would encompass all other etiologies of piriformis syndrome, with the exclusion of lumbar spinal pathology. [emedicine.medscape.com]

[…] branches of the trigeminal nerve Impairment of taste is present in most patients but it rarely persists beyond the second week of paralysis Hyperacusis or distortion of sound in the ipsilateral may occur with paralysis of the stapedius muscle Bell's Etiology [errolozdalga.com]

Primary osteoarthritis no longer primary: three subsets with distinct etiological, clinical, and therapeutic characteristics. Semin Arthritis Rheum 2009; 39:71-80. Singh G, Miller JD, Lee FH, Pettit D, Russell MW. [mapfre.com]

An assay for circulating antibodies to a major etiologic virus of human non-A, non-B hepatitis, Science, 244, 362, 1989. ‎ [books.google.it]

Epidemiologic studies indicate that rates of GWI vary in different subgroups of GW Veterans. GWI affects Veterans who served in the U.S. [en.wikipedia.org]

COVID-19: Institute of Epidemiology Disease Control and Research; 2020 [Available from: https://www.iedcr.gov.bd/website/index.php/component/content/article/73-ncov-2019. [clinicaltrials.gov]

Epidemiology Waldenström macroglobulinemia is a relatively rare condition, with the 1500 cases diagnosed per year in the United States accounting for approximately 2% of hematologic malignancies. [emedicine.medscape.com]

Table 1 Current epidemiology scenarios of influenza and coronaviruses outbreaks around the world and in some countries (Official World Health Organization data) Full table Despite this concerning epidemiological burden, we share the impression that many [atm.amegroups.com]

Bongard Epidemiology of immediate and early trauma deaths at an urban level I trauma center Am Surg, 64 (1998), pp. 950-954 [10.] J.A. Asensio, S. Chahwan, D. Hanpenter, D. Demetriades, W. Forno, E. [elsevier.es]

Furthermore the results confirm that increased spinal cord excitability plays an important role in the pathophysiology of primary RLS. [ediss.uni-goettingen.de]

(See Pathophysiology, Etiology, and Workup.) [emedicine.medscape.com]

Aim We aim to show if pathophysiological mechanisms in narcolepsy and KLS could be revealed by in vivo measurements and visualization of anatomical biomarkers of brain function. [frontiersin.org]

Also, we searched in ClinicalTrials for ‘COVID-19’ ongoing studies enrolling potential therapeutic drugs related to pathophysiological mechanisms and cytokine storm. [pmj.bmj.com]

Pathophysiologic hypotheses include a hypothalamic dysfunction and abnormalities in the central serotonin and dopamine metabolism. Several clinical symptoms also suggest an underlying autoimmune process. [klsfoundation.org]

الصفحة 78 - Joshi (1982): • if you, the speaker, plan to say anything which may imply for the hearer something that you believe to be false, then provide further information to prevent it. [books.google.com]

Regional Office for Europe (‎ EUR/03/5043701, 2003 )‎ Measles and rubella remain important causes of vaccine-preventable disease and death in the European Region of WHO. [apps.who.int]

Books relating to syndrome X and brief extracts from same to provide context of its use in English literature. 1 Syndrome X : The Complete Nutritional Program to Prevent and ... [educalingo.com]

Endogenously, glucocorticoids are released from the adrenal gland as part of a stress response, suppressing the immune response and preventing inflammation. [endocrineweb.com]

Treatment/interventions There are currently no treatments or preventive measures which can cure the condition or stop its development. [socialstyrelsen.se]