Presentation
PowerPoint Presentation: THANK YOU [authorstream.com]
Ocular manifestations : patients usually present with marked decrease in vision. [ijem.in]
A 27-year-old male had initially presented with a painless, right ... 4 A case of plastic bronchitis. [biomedsearch.com]
The documents contained in this web site are presented for information purposes only. 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]
Entire Body System
- Broad Thumb
[…] and spinal cord involvement and lactate elevation (LBSL) Leukoencephalopathy with dystonia and motor neuropathy Megalencephalic leukoencephalopathy with subcortical cysts (MLC) Cystic leukoencephalopathy without megalencephaly Stapes ankylosis with broad [csirnotes.com]
Eyes
- Excessive Tearing
tearing AR TAT #276600 USHER SYNDROME retinitis pigmentosa, cataracts AR 11 genes, majority of cases due to MYO7A, USH2A Multiple DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE VACTERL [eyewiki.aao.org]
- Blurred Vision
DEFICIENCY Pigmentary retinopathy AR HADHA #609016 LEBER CONGENITAL AMAUROSIS Pigmentary retinopathy, photophobia, cataract, nystagmus, eye poking, diminished electroretinogram AD, AR Numerous Multiple LEBER HEREDITARY OPTIC NEUROPATHY Progressive blurred [eyewiki.aao.org]
Face, Head & Neck
- Round Face
Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. [mendelian.co]
Workup
The workup revealed elevated immunoglobulins and histologically normal lacrimal and salivary glands, but there was deposition of amyloid in the conjunctival stroma. The differential diagnosis of the dry eye is discussed. [ncbi.nlm.nih.gov]
It is a significant clinical entity, diagnosing & understanding its pathophysiology can save the patient from spurious medical workups & the anxiety of a suspected neoplasm. The number of its authentic cases in the literature is small. [biomedsearch.com]
Microbiology
- Streptococcus Pneumoniae
pneumonia PowerPoint Presentation: Viral Pathogens Adenovirus Enterovirus Epstein-Barr virus and herpes zoster virus (less common) Measles and rubella viruses Allergic Seasonal pollens Environmental exposure Clinical manifestation:: Clinical manifestation [authorstream.com]
Treatment
Management and treatment Artificial tears are the first treatment option, needed to avoid corneal sequelae. The documents contained in this web site are presented for information purposes only. [orpha.net]
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]
Prognosis
PMID: 16915903 Prognosis Arya SK, Chaudhuri Z, Jain R, Nahar R, Sood S Cornea 2004 Aug;23(6):632-4. PMID: 15257005 [ncbi.nlm.nih.gov]
Intravitreal injection of bevacizumab (Avastin) has been reported as a supportive measure in aggressive posterior retinopathy of prematurity Prognosis :: Prognosis : Most premature infants with ROP recover with no lasting visual problems. [authorstream.com]
Prognosis for vision is poor. F. [clinicalgate.com]
We systematically reviewed the literature to assess the use of BNP and NT-proBNP in the diagnosis, prognosis, and treatment for HF. [biomedsearch.com]
Etiology
Duijsens H M - - 2014 Rosai-Dorman disease (RDD) is a rare disorder of proliferative histiocytes with an unknown etiology. It is also known as sinus histiocytosis with massive lymphadenopathy. [biomedsearch.com]
[…] gene encodes a 547-amino acid protein named ALADIN (for alacrima-achalasia-adrenal insufficiency-neurologic disorder), which belongs to the family of regulatory proteins that play an important role in regulating intracellular protein transport. [1] Etiologies [emedicine.medscape.com]
Etiological diagnosis of primary adrenal insufficiency using an original flowchart of immune and biochemical markers. J Clin Endocrinol Metab 83: 3163, 1998. CAS PubMed Google Scholar Sotsiou F, Bottazzo GF, Doniach D. [link.springer.com]
[…] often involves multiple major salivary glands. 1, 2 Isolated unilateral major salivary gland aplasia is a rare entity with only a few cases reported in the literature to date. 4, 8 – 10 The aplasia is likely due to arrest in organogenesis, but the exact etiology [ajnr.org]
Epidemiology
Summary Epidemiology Prevalence is unknown. Genetic counseling Transmission is usually autosomal recessive, but dominant transmission has also been described. [orpha.net]
Epidemiology Frequency United States Alacrima is uncommon. International Alacrima is uncommon. Mortality/Morbidity Corneal sequelae are the most feared complication of alacrima. Age Onset of alacrima occurs in infancy. [emedicine.medscape.com]
Oremus Mark M Department of Clinical Epidemiology and Biostatistics, McMaster University, 1280 Main Street West, MIP Suite 309A, Hamilton, ON, L8S 4K1, - - 2014 B-type natriuretic peptide (BNP) and N-terminal proBNP (NT-proBNP) levels are increased in [biomedsearch.com]
Pathophysiology
Pathophysiology :: Pathophysiology : Excessive oxygen therapy causes hyperoxic, causes retinal vasoconstriction and irreversible capillary endothelial cell destruction. [authorstream.com]
Pathophysiology Alacrima is usually inherited in an autosomal recessive fashion, but dominant pedigrees have been described. [emedicine.medscape.com]
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335: 1870, 2005. CrossRef Google Scholar 9. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. [link.springer.com]
It is a significant clinical entity, diagnosing & understanding its pathophysiology can save the patient from spurious medical workups & the anxiety of a suspected neoplasm. The number of its authentic cases in the literature is small. [biomedsearch.com]
[…] triazolo[4,5-d]pyrimidine compounds WO2001039781A1 ( en ) 1999-12-01 2001-06-07 Astrazeneca Ab Pharmaceutical combinations Non-Patent Citations (9) * Cited by examiner, † Cited by third party Title Abbracchio and Burnstock, " Purinergic Signalling: Pathophysiological [patents.google.com]
Prevention
0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [medicbind.com]
Management and intervention: Management and intervention Goals of Treatment: Relieve symptoms and resolution of infection Rule out more serious infections (e.g., uveitis) Prevent complications Prevent spread of infection to others Non-pharmacologic Interventions [authorstream.com]
The eyes should be well lubricated during anesthesia to prevent corneal abrasions. Alacrima can refer to a disorder in association with achalasia, addisonism, hyperuricemia, and ectodermal dysplasia. [accessanesthesiology.mhmedical.com]
Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. [books.google.es]
while preventing or treating target thrombi. [patents.google.com]