Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020639 (hypoproteinemia)
 1,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

When administered in sufficient amounts, normal saline and Lactated Ringer's Solution are equally effective in maintaining adequate circulatory volumes despite severe blood loss and resultant hypoproteinemia. Arterial pH is maintained within normal limits when either solution is used for resuscitation provided the circulatory volume has been re-expanded to adequate levels for good tissue perfusion and support of aerobic metabolism. The pH of the infused solutions has no effect on blood pH under these circumstances. Fourteen splenectomized dogs were subjected to continuous hemorrhage and simultaneous replacement with either normal saline or Lactated Ringer's Solution. The cumulative replacement volume ratio necessary for equilibration after 61% RBC depletion was 7:1 crystalloid to the whole "undiluted" blood shed, in both groups. Indicators of pulmonary-circulatory physiology remained stable within normal limits. Arterial pH did not exhibit significant changes from normal values after resuscitation with NS or LRS. The group infused with LRS exhibited no change in arterial pH, 7.40 plus or minus .07 initial and 7.40 plus or minus .09 final; in the group with NS replacement a slight decrease from control was noted, 7.40 plus or minus .07 initial and 7.36 plus or minus .06 final. These differences, however, are not statistically significant. Of the 14 subjects, 13 were long-term survivors. The one death was associated with a technical mishap shortly after completion of the experiment. Because banked blood imposes a "net" alkaline metabolic load (sodium citrate), patients expected to be transfused with large volumes of stored blood might be better resuscited with normal salin than with Ringer's Lactate Soultions, to minimize or avert the otherwise resultant metabolic alkalosis.
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PMID:Dilutional re-expansion with crystalloid after massive hemorrahage: saline versus balanced electrolyte solution for maintenance of normal blood volume and arterial pH. 23 99

Infantile liver failure syndrome type 1 (ILFS1) is a Mendelian disease due to biallelic mutations in the cytoplasmic leucyl-tRNA synthetase gene (LARS). This study aimed to report the clinical and molecular features of the first non-caucasian ILFS1 patient, providing reliable evidences for the definite diagnosis of ILFS1. The 2 years and 9 months old male patient was referred to the hospital with hepatosplenomegaly over 1 year. At age 17 months, he was found to have hepatosplenomegaly and anemia. Since then, he had been managed in different hospitals. The laboratory tests showed liver dysfunction, hypoproteinemia, coagulopathy and anemia, along with histologically-confirmed cirrhosis and fatty liver; however, the etiology remained undetermined. The subsequent SLC25A13 mutation analysis by means of prevalent mutation screening and Sanger sequencing only revealed a paternally-inherited mutation c.1658G>A, and no aberrant SLC25A13 transcripts could be detected from the maternal allele on cDNA cloning analysis, ruling out the possibility of citrin deficiency. Further target exome high-throughout sequencing of genes relevant to genetic liver diseases detected a paternal c.2133_2135del (p.L712del) and a maternal c.1183G>A (p.D395N) mutation in LARS gene. This finding was then confirmed by Sanger sequencing, and ILFS1 was thus definitely diagnosed. The child has been followed up till age 4 years, and his condition became stabilized.
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PMID:[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1]. 2877 68