- Inherited bisalbuminemia with growth hormone deficiency. [Letter]
- CCClin Chem Lab Med 2019 Feb 14
- Alagille syndrome: a case report. [Case Reports]
- ABAnn Biol Clin (Paris) 2018 Dec 01; 76(6):675-680
- We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of Alagille syndrome (SAG ; MIM # 118450) was suspected in the presence of major cholestasis, cardiac m…
We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of Alagille syndrome (SAG ; MIM # 118450) was suspected in the presence of major cholestasis, cardiac malformations, suggestive facial dysmorphia, and vertebral and ocular abnormalities. This diagnosis was later confirmed by the detection of a heterozygous pathogenic variant in the gene JAG1, i.e. the gene predominantly responsible for this syndrome with autosomal dominant transmission, which affects about 1 in 30 000 births. The purpose of this presentation is to highlight this relatively unknown syndrome, both from the diagnostic and physiopathological points of view. This clinical case is also an opportunity to discuss pseudo-bisalbuminemia, accidentally discovered in the patient during the exploration of serum proteins by capillary electrophoresis. In total, the medical biologist is directly concerned by the multidisciplinary management of this syndrome, which involves biological perturbances in multiple organs.
- Bisalbuminemia: A Rare Finding on Serum Electrophoresis. [Journal Article]
- IJIndian J Hematol Blood Transfus 2018; 34(3):558-559
- Bisalbuminemia is an uncommon finding that is seen as bifid albumin peak on serum protein electrophoresis. We report here this unusual finding in an adult male diagnosed with multiple myeloma on rout…
Bisalbuminemia is an uncommon finding that is seen as bifid albumin peak on serum protein electrophoresis. We report here this unusual finding in an adult male diagnosed with multiple myeloma on routine workup.
- [Bisalbuminemia: A case report]. [Case Reports]
- RMRev Med Interne 2018; 39(12):950-954
- CONCLUSIONS: The diagnosis of genetic bisalbuminemia is made by first eliminating the usual acquired etiologies: analytical or drug interference, acute pancreatitis and binding of immunoglobulins. Then, after having checked the lipemic index, reviewed the patient's medical history, comorbidities, and treatments, repeating the electrophoresis will help identify the cause of the bisalbuminemia.
- [Bisalbuminemia: A Rare Variant of Albumin]. [Case Reports]
- AMActa Med Port 2017 Apr 28; 30(4):330-333
- CONCLUSIONS: We describe a rare case of hereditary bisalbuminemia in a portuguese family. In general, this condition shows no pathological significance, however it is of interest to the clinicians the knowledge of this analytic change for better orientation of their patients.
- Mutations and polymorphism in bottlenose dolphin (Tursiops truncatus, Montagu 1821) albumin gene: First identification of mutations responsible for inherited bisalbuminemia. [Journal Article]
- RVRes Vet Sci 2017; 114:12-17
- Hereditary bisalbuminemia is an asymptomatic and heterozygous condition in a range of species characterized by the presence of two serum albumin fractions with different electrophoretic mobility resu…
Hereditary bisalbuminemia is an asymptomatic and heterozygous condition in a range of species characterized by the presence of two serum albumin fractions with different electrophoretic mobility resulting in a bicuspid pattern on serum electrophoresis. Bisalbuminemia has been diagnosed by electrophoresis in two bottlenose dolphin (Tursiops truncatus) families, but causative mutations and the inheritance pattern have not been identified. The aims of this work are: to investigate polymorphisms of the bottlenose dolphin albumin gene and to identify mutations causative of bisalbuminemia; to identify the inheritance pattern in two bottlenose dolphin families. Coding regions of the albumin gene were screened for mutations in 15 bottlenose dolphins kept under human care from two distinct families. Eighteen albumin mutations (three synonymous and 15 non-synonymous) were identified. Two non-synonymous variations co-segregated with bisalbuminemic phenotype: p.Phe146Leu in exon 4 and p.Tyr163His in exon 5. The amino acid change in exon 5 was associated with the secondary and/or tertiary structure variation of the protein and has been reported as causative of bisalbuminemia in humans. Pedigree analysis of the dolphin families showed an autosomal codominant inheritance pattern. In this work, the mutations potentially responsible for bisalbuminemia were identified and confirmed the autosomal codominant trait in bottlenose dolphins.
- Bisalbuminemia in a patient with metastatic lung cancer. [Case Reports]
- MCMed Clin (Barc) 2017 02 09; 148(3):145-146
- Detection of hereditary bisalbuminemia in bottlenose dolphins (Tursiops truncatus, Montagu 1821): comparison between capillary zone and agarose gel electrophoresis. [Journal Article]
- BVBMC Vet Res 2016 Aug 20; 12(1):172
- CONCLUSIONS: We report for the first time the presence of hereditary bisalbuminemia in two groups of related bottlenose dolphins identified by means of CZE and we confirm that AGE could fail in the identification of this alteration.
- Bisalbuminemia accompanying bisalbuminuria detected in capillary electrophoresis, not in gel electrophoresis. [Journal Article]
- CCClin Chem Lab Med 2016 Jul 01; 54(7):e191-3
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- [Bisalbuminemia occurring outside usual situations]. [Case Reports]
- RMRev Med Interne 2016; 37(7):505-6