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Diseases » Sandhoff Disease » Diagnosis
 

Diagnosis of Sandhoff Disease

Sandhoff Disease Diagnosis: Book Excerpts

Diagnostic Tests for Sandhoff Disease: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Sandhoff Disease.


Arterial Pulse Variants: Differential Overview
(Field Guide to Bedside Diagnosis)

Phenomena

❑ Irregularly irregular pulse

❑ Asymmetric pulses

❑ Bounding pulse

❑ Bisferiens pulse

❑ Bigeminal pulse

❑ Pulsus alternans

❑ Pulsus paradoxus

❑ Thready pulse

❑ Pulsus parvus et tardus

❑ Narrow pulse pressure

Diagnostic Approach

Examine the pulse using the method of trisection: apply pressure until the pulse is maximal, and then vary pressure while concentrating on phases of the pulse.

Early Chinese medicine based diagnosis primarily on careful examination of the pulse. There were six sets of pulses, each connected with a specific part of the body and each believed to register even the subtlest physiological changes within it. The principal pulses were Fu, a light-flowing pulse like a piece of wood floating on water; Ch’en, a deeply impressed pulse like a stone thrown into water; Ch’ih, a pulse with three beats to one cycle of respiration; and Shu, a pulse with six beats to one cycle of respiration.

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007

Jugular Pulse Variants: Differential Overview
(Field Guide to Bedside Diagnosis)

Phenomena

❑ Elevated jugular venous pressure

❑ Low jugular venous pressure

❑ Kussmaul sign

❑ Giant a waves

❑ Cannon a waves

❑ Prominent v wave

❑ Flutter waves

❑ Precipitous x descent

❑ Prominent y descent

❑ Slow y descent

Diagnostic Approach

Tangential light and the patient at a 30 to 45 degree angle facilitate observation of the meniscus of the undulating internal jugular pulse. Uncertainty may be reduced by light pressure over the base of the neck, which will obliterate the jugular but not carotid pulse. The sternomanubrial angle is by convention 5 cm vertically above the mid-right atrium, and the jugular venous pressure (JVP) is measured vertically above this landmark.

The a wave is the dominant waveform, caused by right atrial contraction, preceding the carotid impulse. It is absent in atrial fibrillation. The c wave is simultaneous with the carotid pulse, caused by bulging of the tricuspid into the right atrium. It is not usually visible. The v wave occurs during systole until the tricuspid valve opens, and is due to passive increase in right ventricle pressure with filling in late systole and early diastole. The x descent is caused by right atrial relaxation and downward displacement of the tricuspid valve during ventricular systole. The y descent results from the opening of the tricuspid valve and rapid inflow of blood into the right ventricle.

Engorged veins over the thoracic outlet may be caused by retrosternal goiter or superior venal cava obstruction. Unilateral JVD may be due to supraclavicular occlusion caused by enlarged lymph nodes, thrombosis, or subclavian neoplasm.

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007

Pneumonia Variants: Differential Overview
(Field Guide to Bedside Diagnosis)

❑ Streptococcus pneumoniae

❑ Mycoplasma pneumoniae

❑ Haemophilus influenzae

❑ Chlamydia pneumoniae

❑ Influenza virus

❑ Staphylococcus aureus

❑ Mycobacterium tuberculosis

❑ Legionella pneumophila

❑ Klebsiella pneumoniae

❑ Pneumocystis carinii

❑ Chlamydia psittaci

❑ Severe Acute Respiratory Syndrome (SARS)

❑ Hantavirus

Diagnostic Approach

Although the current consensus recommendations call for the use of broad spectrum empiric antibiotics without determining the cause of the pneumonia, clinical findings combined with low-tech bedside diagnostics, such as sputum Gram stain, can be surprisingly informative. As an example, in smokers with chronic bronchitis consider H. influenzae, S. pneumoniae, and
B. catarrhalis.

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007


 » Next page: Signs of Sandhoff Disease

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