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Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Function Phosphomannomutase 2 catalyzes the isomerization ...
For most people, recommendations are to reduce blood pressure to less than or equal to somewhere between 140/90 mmHg and 160/100 mmHg. [2] In general, for people with elevated blood pressure, attempting to achieve lower levels of blood pressure than the recommended 140/90 mmHg will create more harm than benefits, [3] in particular for older people. [4]
Preeclampsia superimposed on chronic hypertension occurs when a pregnant woman with chronic hypertension develops signs of pre-eclampsia, typically defined as new onset of proteinuria ≥30 mg/dL (1+ in the dipstick) in at least 2 random urine specimens that were collected ≥4 h apart (but within a 7-day interval) or 0.3 g in a 24-h period. [19]
Secondary hypertension (or, less commonly, inessential hypertension) is a type of hypertension which has a specific and identifiable underlying primary cause. It is much less common than essential hypertension , affecting only 5-10% of hypertensive patients.
Approximately 60 million Americans have chronic hypertension, with 1% of these individuals having an episode of hypertensive urgency. In emergency departments and clinics around the U.S., the prevalence of hypertensive urgency is suspected to be between 3-5%.
Left ventricular hypertrophy. Hypertensive heart disease is the result of structural and functional adaptations [18] leading to left ventricular hypertrophy, [19] [20] [21] diastolic dysfunction, [18] [20] CHF (Congestive Heart Failure), abnormalities of blood flow due to atherosclerotic coronary artery disease [18] and microvascular disease, [10] [19] and cardiac arrhythmias. [19]