Rare Diseases

Bartter Syndrome 

Bartter Syndrome – 7 Interesting Facts Pitfalls Urgent Action Patients require prompt and vigorous IV fluid replacement in situations of physiologic stress (eg, surgical procedures, trauma) where serum electrolyte levels drop rapidly Introduction Classification Types of Bartter Syndrome There are 5 genetic types (Types I–V), based on the affected ion transporters: Type Gene Affected Defect Additional …

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Arthrogryposis Multiplex Congenita 

Arthrogryposis Multiplex Congenita – Introduction Synonyms Types Epidemiology Who Is Most Affected Incidence/Prevalence Associated Conditions Etiology and Pathogenesis Causes History and Physical History Chief Concern (CC) History of Present Illness (HPI) Physical General Physical Skin Extremities Neuro Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Management Management Overview Surgery and Procedures Other Management Complications and Prognosis …

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Aceruloplasminemia

Aceruloplasminemia – What is this disease? Epidemiology – What is the incidence? What causes this condition? What are the symptoms of Aceruloplasminemia? Clinical description Very Frequent (common) symptoms Frequent (common) symptoms Occasional symptoms How is this condition diagnosed? Diagnostic methods Differential diagnosis Differential diagnoses include other forms of later-onset, slowly progressing NBIA including Antenatal diagnosis …

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Adhesive Arachnoiditis 

Adhesive Arachnoiditis – 7 Interesting Facts Description Also Called Definitions Types Epidemiology Etiology and Pathogenesis Causes Pathogenesis History and Physical Clinical Presentation Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Imaging Studies Management Complications Prognosis Prevention and Screening Guidelines and Resources Guidelines United Kingdom Guidelines Review Articles MEDLINE Search Patient Information References General References Used

Glaucomatocyclitic Crisis (Posner Schlossman Syndrome) 

Glaucomatocyclitic Crisis (Posner Schlossman Syndrome)   Description Also Called Definitions Epidemiology Who Is Most Affected Incidence/Prevalence Risk Factors Associated Conditions Etiology and Pathogenesis Causes Pathophysiology History and Physical History Clinical Presentation History of Present Illness (HPI) Physical Overview Slit-lamp Biomicroscopy Intraocular Pressure (IOP) Measurement Gonioscopy Optic Nerve Head and Retinal Nerve Fiber Layer (RNFL) Fundus …

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