Presentation
JP Medical Ltd, ٣١/٠٣/٢٠١٢ - 548 من الصفحات The ninth edition of Ocular Differential Diagnosis is a practical manual to help practitioners make a quick diagnosis based on presentation and symptoms. [books.google.com]
[…] if the condition was present at the time of inpatient admission. [icd.codes]
Half of the present patients had cephalic presentation while the other half showed one of the considered risk presentations (breeched, transverse, or other position). [jped.elsevier.es]
Corneal abnormalities such as opacities or sclerocornea may be present. [disorders.eyes.arizona.edu]
Entire Body System
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Physician
There are many physicians who do not have a desk computer or do not History feel at ease in using one. [books.google.com]
Examination of a newborn's fontanels offers the physician a window into the infant's developing brain and general state of health. [aafp.org]
Avoidance of drug intake without consulting physician in the first trimester of pregnancy. Prevention of intrauterine infections and promotion of sexual hygiene. Efficient antenatal care. Promotion of therapeutic abortion after prenatal diagnosis [slideshare.net]
As limb-lengthening procedures pioneered by the Russian physician Ilizarov have become more widely used, clinicians may encounter patients with atypical postoperative long bone changes. 29, 53 Studies have shown impressive gains in limb length in patients [radiologykey.com]
[…] of beta-blocker therapy or angiotensin II receptor antagonist like losartan as potential therapies to limit the risk of further vessel dilatation or dissection in Marfan syndrome and Loeys-Dietz syndrome. 100, 101 An accurate diagnosis can guide the physician [nature.com]
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Inflammation
10-CM Diagnosis Code Z91.81 History of falling 2016 2017 2018 2019 Billable/Specific Code POA Exempt Applicable To At risk for falling Personal history of thrombophlebitis History of thrombophlebitis; History of thrombophlebitis (blood clot and vein inflammation [icd10data.com]
In the bone marrow, this may manifest as premature egress of blast cells (as in transient leukemia inflammation) or incomplete repair (as in myelofibrosis and binding of autoantibodies to cell nuclei), resulting in malignant transformation and leukemia [radiologykey.com]
Musculoskeletal
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Muscle Weakness
weakness Gower sign Pseudohypertrophy of calves Cardiomyopathy Rett Syndrome *X-linked dominant Defect in MECP2 Develop normally then regress Microcephaly Hand-wringing Seizures Autistic Features Incontinentia Pigmenti *X-linked Dominant Mostly females [quizlet.com]
Muscle cramps, muscle weakness, easy fatigability. Myoglobinuria with strenuous exercise. [kumc.edu]
In addition to pain in the extremities (the most common symptom), other diagnostic clinical features include a waddling gate, easy fatigability, and muscle weakness. [nature.com]
[…] white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros AR TYR, OCA2, TYRP1, or SLC45A2, MC1R Multiple OCULOPHARYNGEAL MUSCULAR DYSTROPHY Progressive blepharoptosis beginning most often in the 5th decade of life, facial muscle [eyewiki.aao.org]
Weakness, Atrial Fibrilation, Hypertriglyceridaemia Muscle-eye-brain Disease Muscle-eye-brain Like Disease Muscular Dystrophy, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Emery-Dreifuss Muscular Dystrophy, Limb Girdle, Type 1A, Myotilinopathy [sequencing.com]
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Lordosis
[…] associated with malignant hyperthermia Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck that increases with age, webbing of the knees and elbows that develops before adolescence, multiple joint contractures, and lumbar lordosis [emedicine.medscape.com]
Ocular - Corneal clouding - Retinal degeneration - Glaucoma Cardiac - Valvular lesions - Heart failure Abdomen - Hepatomegaly - Splenomegaly - Umbilical and inguinal hernias Skeletal - Thickened skull - Broad ribs - Claw hand - Thoracic kyphosis - Lumbar lordosis [brainscape.com]
Psychiatrical
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Suggestibility
Further reading suggestions appear after each diagnostic description. [books.google.com]
SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism). [genedx.com]
Recur- rence in sibs suggests the possibility of auto- somal-recessive inheritance, or of a domi- nant mutation with parental mosaicism. 0 1995 Wiley-Liss, Inc. [documents.mx]
Abstract Purpose: To create a practical desk reference for clinicians focused on the differential diagnosis of individuals presenting with features that suggest an inherited disorder of connective tissue. [nature.com]
A case series involving three boys with SED tarda and growth failure suggested an association with the nephrotic syndrome. [radiologykey.com]
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Compulsive Disorder
O–Ob [ edit ] O Doherty syndrome O Donnell Pappas syndrome Obesophobia Obsessive–compulsive disorder (OCD) Obsessive–compulsive personality disorder Obstructive asymmetric septal hypertrophy Obstructive sleep apnea Oc [ edit ] Occ–Och [ edit ] Occipital [en.wikipedia.org]
Neurologic
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Hyperalgesia
Oneirophobia Onychocryptosis Onychogryphosis Onycholysis Onychomadesis Onychomatricoma Onychomycosis Onychonychia hypoplastic distal phalanges Onychophosis Onychotrichodysplasia and neutropenia Op [ edit ] Opi-Ops [ edit ] Opioid dependence Opioid-induced hyperalgesia [en.wikipedia.org]
Treatment
Treatment Treatment Options: None other than rehabilitation. [disorders.eyes.arizona.edu]
Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 1995; 6:368-71 9. Hadi HA, Strickland RT. [books.google.de]
[…] imperforate anus Genital organs Undescended testis (if treated) Hypospadias Indeterminate sex Urinary system Cystic kidney Absent kidney Ectopic kidney Double ureter/collecting system Vesico-ureteric reflux Musculo-skeletal system Talipes (requiring treatment [ww2.health.wa.gov.au]
Treatment: Remove fructose from diet. Galactosemia Carbohydrate Metabolism Defect Autosomal Recessive. [kumc.edu]
OPPG is characterized by congenital or infancy-onset blindness and extremely severe childhood-onset osteoporosis (lumbar spine Z-score often Few data are available on the treatment of osteoporosis in OPPG, however some beneficial response to bisphosphonates [iofbonehealth.org]
Prognosis
Osteogenesis Imperfecta Prognosis The prognosis for this condition varies greatly depending on the severity of symptoms. For children with mild symptoms, life expectancy is not impacted. [rainbowkids.com]
[…] tract (ambiguous genitalia and other serious malformations of the external genitalia, agenesis, hypoplasia and cystic renal dysplasia) congenital malformations of the central nervous system, cleft palate, congenital heart defects etc. growth retardation Prognosis [atlases.muni.cz]
Pulmonary hypoplasia is common which, together with kidney and liver disease, is responsible for the poor prognosis of most infants. [disorders.eyes.arizona.edu]
Thompson EM, Young ID, Hall CM, Pembrey ME (1987): Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 24:390405. 18: 394-398. [documents.mx]
[…] widely spaced nipples - Lung hypoplasia - Coarctation of the aorta with biscuspid aortic valve - Renal abnormalities - Increased risk of hypertension - Lymphedema of the hands and/or feet - Wide carrying angle - Streak gonads with infertility What is the prognosis [brainscape.com]
Etiology
It is possible that environmental factors have contributed in the etiology of AMC in these cases. [jped.elsevier.es]
Etiology, pathogenesis incidence: 1 : 10 000 – 1 : 40 000 carriers (heterozygotes): up to every 30th individual in the population deficit of one of the enzymes for the cholesterol synthesis leads to its deficiency (disorders of cell membranes construction [atlases.muni.cz]
Increasing public awreness about the risk factors and etiological factors of congenital anomalies and their preventive measures. [slideshare.net]
The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). [reference.md]
[…] chronic hypoxia-- cor pulmonale Feeding problems Airway obstruction Retinal detachement HEARING LOSS (what makes it Stickler Syndrome--AD) RAPSN gene IUGR Arthrogryposis Pulmonary hypoplasia Expressionless face CNS anomalies Polyhydramnios Uncertain etiology [quizlet.com]
Pathophysiology
Proteins - Phenylketonuria - Tyrosemia - Homocystinuria - Organic acid disorders - Urea cycle disorders Lipids - Fatty acid oxidation defects Organelle disorders - Congenital disorders of glycosylation - Mucopolysaccharidoses What is the underlying pathophysiology [brainscape.com]
Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al. [nature.com]
Prevention
Prospective genetic counseling: o It is for true prevention of disease o It aims at preventing or reducing heterozygous marriage by screening procedures and explaining the risk of affected children. Retrospective genetic counseling: o It is done [slideshare.net]
Infection in the bones is a concern for children with osteogenesis imperfecta, and doctors prescribe antibiotics to treat or prevent infections. [rainbowkids.com]
The management of potentially preventable complications (joint dislocation, osteoarthritis, and scoliosis) is fundamental to ensure the quality of life of the patients. [jped.elsevier.es]
Classical homocystinuria: vascular risk and its prevention. J Inherit Metab Dis 2003; 26 : 259–265. 64. Salo AM, Cox H, Farndon P, et al. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. [nature.com]