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January 2017 - January 2017
Publications
Publications (126)
Introduction
Bloodstream infections (BSIs) are a major concern in pediatric patients with cancer, especially during episodes of febrile neutropenia (FN). In this study, we aimed to evaluate the incidence of BSI across various pediatric malignancies and identify cancer subtypes associated with a heightened risk of BSI.
Methods
This single-center, r...
Mitochondria contribute to cellular metabolism by providing a specialised milieu for energising cells by incorporating and processing the metabolites. However, heterogeneity in the mitochondria within is only partially elucidated. Mitochondria dynamically alter their morphology and functions during the life of animals, in which cells proliferate an...
Familial neurohypophyseal diabetes insipidus is a rare genetic disease caused by AVP gene variants and is characterized by progressive polyuria and polydipsia in early childhood. Herein, we have reported the clinical symptoms and genetic test results of a Japanese patient with a family history of polyuria and polydipsia for over five generations. T...
Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both no...
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that presents with uncontrolled hyperglycemia during the first 6 months of life. NDM is a rare disease in which gene variants mainly cause β-cell loss or dysfunction (6q24 duplication, KCNJ11, and ABCC8). Although NDM is primarily treated through insulin therapy, it is highly challeng...
X-linked inhibitor of apoptosis protein (XIAP) deficiency is an inborn error of immunity (IEI). Allogeneic hematopoietic cell transplantation (HCT) is currently the only curative therapy available for XIAP deficiency. Granulomatous and lymphocytic interstitial lung disease (GLILD) is a common immune-related lung complication of IEIs. We present a 6...
Turner syndrome (TS) patients with Y chromosome material face an increased risk of gonadal germ cell tumors (GCTs). This case report discusses the challenges in decision-making regarding prophylactic gonadectomy, considering the risk of malignancy and the desire to preserve fertility. We report a case of a 12-year-old female with mosaic TS and Y ch...
Objective:
Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. The aim of this study was to clarify the clinical characteristics in each group.
Design:
Comprehensive...
Background:
This nationwide survey aimed to determine the status of jaundice management in Japan.
Methods:
A questionnaire about bilirubin level measurements and neonatal jaundice treatment was sent to 330 institutions providing neonatal care. The responses were analyzed according to institution level.
Results:
Of 330 institutions, 172 respond...
Objectives:
To determine the clinical features of bilirubin encephalopathy in preterm infants (pBE) in Japan.
Methods:
We performed a retrospective, nationwide questionnaire-based survey. The initial survey determined the number of children with pBE who were born after 2000. Using a structured questionnaire, the second survey clarified the clini...
Purpose:
To investigate blood monocyte counts as a risk factor for retinopathy of prematurity (ROP) treatment.
Design:
Retrospective cohort study.
Methods:
Infants who underwent ROP screening at Shiga University of Medical Science Hospital between January, 2011 and July, 2021 were included in this study. Screening criteria were a gestational a...
Purpose
To investigate the blood neutrophil-to-lymphocyte ratio (NLR) as a risk factor for retinopathy of prematurity (ROP) development or treatment.
Methods
Retrospective cohort study. Infants who underwent ROP screening at Shiga University of Medical Science Hospital and Omihachiman Community Medical Center between April 2010 and December 2021 w...
Background:
Exosomes are nanosized extracellular vesicles, that play important roles in intercellular immune regulation. They have potential therapeutic utility for neonatal diseases including necrotizing enterocolitis. Breast-milk-derived exosomes have recently shown beneficial effects on intestinal damage in vitro and in vivo. However, the chron...
Background:
XE991 (10,10-bis(4-pyridinylmethyl)-9(10H)-anthracenone) is reportedly a potent and selective Kv7 (KCNQ) channel inhibitor. This study aimed to evaluate how XE991 affects nicotinic responses in intracardiac ganglion neurons.
Methods:
We studied how the KCNQ channel inhibitor XE991 could affect nicotinic responses in acutely isolated...
Lysinuric protein intolerance (LPI) (MIM#222700) is a rare autosomal recessive defect in bibasic amino acid transport caused by pathogenic variants in solute carrier family 7 member 7 gene ( SLC7A7). The symptoms begin after weaning from breast milk and include refusal of feeding, vomiting, and consequent failure to thrive. Some metabolic disorders...
Purpose
To investigate changes in the number of preterm infants, low birth weight infants, and infants with fetal growth restriction (FGR) or retinopathy of prematurity (ROP) during the coronavirus disease 2019 (COVID-19) pandemic.
Methods
In this retrospective cross-sectional study, we reviewed the medical records of infants born and admitted to...
Background
Primary cilia are sensory organelles crucial for organ development. The pivotal structure of the primary cilia is a microtubule that is generated via tubulin polymerization reaction that occurs in the basal body. It remains to be elucidated how molecules with distinct physicochemical properties contribute to the formation of the primary...
Purpose
To evaluate the short-term effect on body weight (BW) gain after intravitreal bevacizumab (IVB) for retinopathy of prematurity (ROP).
Methods
This was a retrospective 1:1 matched case-control study. Infants with ROP treated by IVB or photocoagulation (PC) at Shiga University of Medical Science Hospital between April 2010 and December 2019...
The human UDP-glucuronosyltransferases (UGTs) represent an important family of drug-metabolizing enzymes, with UGT1A1 targeting the conjugation and detoxification of many exogenous substances including pharmaceutical drugs. In this study we generated humanized UGT1A1 mice expressing the human UGT1A1 gene in either liver (hUGT1A1HEP) or intestine (h...
The long-term renal prognosis of Henoch-Schönlein purpura nephritis (HSPN) in children and the pathological changes before and after treatment has not yet been clarified, and the optimal treatment for HSPN remains unclear. In Japan, children with HSPN are treated according to the treatment guidelines for childhood immunoglobulin A nephropathy. Our...
Purpose
To evaluate systemic adverse events after screening for retinopathy of prematurity (ROP) performed with mydriatic.
Methods
This was a retrospective case series study. Medical records of consecutive patients who underwent screening for ROP with 0.5% phenylephrine and 0.5% tropicamide eyedrops were retrospectively reviewed. The score of abdo...
Background
Exosomes, which are observed in all human fluid, including serum, are nanosized extracellular vesicles with a mechanism of intercellular communication. Potential clinical applications of exosomes involving neonatal diseases have recently been discussed. However, the state of exosomes in serum during early infancy is unclear.
Methods
We...
Aim
Magnetic resonance imaging (MRI) abnormalities in preterm infants with bilirubin encephalopathy (BE) become less clear as the infants age. We assessed MRI findings in children with preterm BE older than 36 months corrected age (CA).
Method
In a previous questionnaire survey, hospitals were asked to provide head MRI data of patients older than...
It is not fully understood how enzymes are regulated in the tiny reaction field of a cell. Several enzymatic proteins form cytoophidia, a cellular macrostructure to titrate enzymatic activities. Here, we show that the epileptic encephalopathy-associated protein Tbc1d24 forms cytoophidia in neuronal cells both in vitro and in vivo. The Tbc1d24 cytoo...
Introduction:
The aim of this study is to clarify bilirubin parameters and its treatment in preterm infants with bilirubin encephalopathy (pBE).
Methods:
We asked the responders to an earlier nationwide Japanese survey on pBE to provide additional information. pBE was diagnosed based on the criteria used in the nationwide survey. We collected da...
Background
The MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity) syndrome, which is caused by a hemizygous variant in the EIF2S3 gene on chromosome Xp22, is associated with significant morbidity and mortality. Refractory epileptic seizures and glucose dysregulation are characteristic manifest...
Aim
To clarify auditory brainstem response (ABR) in preterm infants with bilirubin encephalopathy and the relationships between ABR and clinical variables.
Method
We retrospectively reviewed the ABR waveforms of 56 preterm infants with BE and graded them as “no response”, “abnormal interwave separation”, or “normal”. Patient backgrounds, the peak...
Organic anion transporting polypeptide (OATP) 1B1 (gene, solute carrier organic anion transporter family member 1B1 [SLCO1B1]) and OATP1B3 (SLCO1B3) serve as transporters for hepatic uptake of important endogenous substances and several commonly prescribed drugs. Inactivation of both proteins together causes Rotor syndrome. How this OATP1B1/1B3 def...
The cardiac plexus, which contains parasympathetic ganglia, plays an important role in regulating cardiac function. Histamine is known to excite intracardiac ganglion neurons, but the underlying mechanism is obscure. In the present study, therefore, the effect of histamine on rat intracardiac ganglion neurons was investigated using perforated patch...
Objectives
To examine the clinical characteristics of bilirubin encephalopathy in preterm infants (pBE) in Japan.
Methods
We performed a two-step nationwide questionnaire survey. The initial survey determined the number of children with pBE. Using a structured questionnaire, the second survey clarified the clinical manifestations and characteristi...
Background:
Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features. Major (epi)genetic causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). However, IGF2, CDKN1C, HMGA2, and PLAG1 mutations infrequently cause SRS. In addition, other impr...
Interstitial lung disease (ILD) is a very common and lethal complication of rheumatoid arthritis (RA), yet its pathogenesis is not well understood, in part due to the lack of adequate animal models. Although collagen-induced arthritis (CIA) is the most widely used animal model for RA, the lung involvement occurring in this model has scarcely been s...
The human UDP‐glucuronosyltransferases (UGTs) represent an important family of drug‐metabolizing enzymes. Among the nine UGT1A proteins, UGT1A1 has been the most extensively studied. UGT1A1 is the sole enzyme responsible for the glucuronidation of bilirubin and is involved in the conjugation of endogenous and many exogenous substances, including ph...
Aim:
This study aimed to investigate the current progression status from screening phase to further investigation phase in the Japanese School Urine mass Screening (SUS) project.
Methods:
This retrospective cohort study on the SUS project across the Shiga Prefecture during 2012-2017 analysed data from school life instruction sheets, which are pr...
Purpose
To evaluate short-term changes in intraocular pressure after intravitreal injection of bevacizumab for retinopathy of prematurity.
Patients and methods
This study was a prospective case-series. Consecutive infants underwent intravitreal injection with bevacizumab for type 1 retinopathy of prematurity at a university hospital. Intraocular p...
Background:
Epidemiological research indicates that iron deficiency (ID) in infancy correlates with long-term cognitive impairment and behavioral disturbances, despite therapy. However, the mechanisms underlying these effects are unknown.
Objective:
We investigated how ID affected postweaning behavior and monoamine concentration in rat brains to...
Aims/Introduction
Glucokinase maturity‐onset diabetes of the young (GCK‐MODY, also known as MODY2) is a benign hyperglycemic condition, which generally does not require medical interventions. The only known exception is increased birth weight and related perinatal complications in unaffected offspring of affected women. Since previous data were obt...
Juvenile animals possess distinct properties that are missing in adults. These properties include capabilities for higher growth, faster wound healing, plasticity and regeneration. However, the molecular mechanisms underlying these juvenile physiological properties are not fully understood. To obtain insight into the distinctiveness of juveniles fr...
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1), which encodes isoform I of phosphoribosyl pyrophos...
Background:
Activated phosphatidylinositol-3-OH kinase-delta (PI3Kδ) syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory infections, lymphoid hyperplasia, and herpesviridae infections due to germline gain-of-function mutations of PIK3CD. Hematopoietic stem cell transplantation (H...
Bilirubin is metabolized in liver by UDP‐glucuronosyltransferase 1A1 (UGT1A1). Genetic polymorphisms associated with the UGT1A1 gene are commonly known to be responsible for increased levels of total serum bilirubin (TSB). Variants in the UGT1A1 gene promoter as well as Single Nucleotide Polymorphisms (SNPs) at both promoter and exons can result in...
BACKGROUND:
In the clinical setting, verapamil is contraindicated in neonates and infants because of the perceived risk of hypotension or bradyarrhythmia. However, it remains unclear whether there is an age-dependent difference in the sensitivity of cardiac L-type Ca²⁺ channel current (ICa,L) to inhibition by verapamil.
METHODS:
Ventricular myocyt...
The combination of persistent pulmonary hypertension of the newborn (PPHN) and transposition of the great arteries (TGA) has serious impacts on treatment and prognosis, often with adverse outcomes. We report the case of a male full-term newborn with TGA with intact ventricular septum and severe PPHN who died 2 h after birth; further, we examined hi...
Anti-myelin oligodendrocyte glycoprotein (MOG) antibodies have been implicated in various demyelinating diseases. Recently, acute disseminated encephalomyelitis (ADEM) followed by optic neuritis (ON) with positive serum anti-MOG antibodies has been reported as a new phenotype of demyelinating diseases. An 8-year-old boy was admitted because of feve...
Objective:
To determine whether a variant of the bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1*6) is a risk factor for prolonged hyperbilirubinemia in preterm infants.
Study design:
UGT1A1 genotypes in 46 Japanese preterm infants (<37 weeks of gestation) were compared with UGT1A1 genotypes in 38 control infants, using polyme...
Background: Diffuse alveolar hemorrhage is considered a rare and acute complication of systemic lupus erythematosus, which occurs even if the patient had been treated with appropriate lupus therapy. Despite high mortality, a therapy for diffuse alveolar hemorrhage has not been established yet. Herein, we report a case of systemic lupus erythematosu...
Background
The incidence of Kawasaki disease has been increasing since it was first reported by Tomisaku Kawsasaki in 1967. Among complications of the condition, the formation of coronary artery aneurysms is the most important. In particular, giant aneurysms with diameters that exceed 8 mm are likely to not regress and result in serious complicatio...
We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compou...
Background
In children, the most significant cause of rhabdomyolysis or muscle breakdown is viral infection. However, there are no reports that norovirus, a gastroenteric virus that commonly infects children, specifically causes rhabdomyolysis. Here, we report the first pediatric case of norovirus-associated rhabdomyolysis.
Case presentation
The p...
Background
The clinical management of intravenous immunoglobulin-resistant Kawasaki disease shock syndrome (KDSS) is obscure. Case characteristicsThree children presented with intravenous immunoglobulin-resistant KDSS complicated with myocarditis. OutcomeAll cases were successfully managed with steroid pulse therapy. MessageSteroid pulse therapy is...
Background:
Activated phosphatidylinositol 3-kinase δ syndrome (APDS) is a recently discovered primary immunodeficiency disease (PID). Excess phosphatidylinositol 3-kinase (PI3K) activity linked to mutations in 2 PI3K genes, PIK3CD and PIK3R1, causes APDS through hyperphosphorylation of AKT, mammalian target of rapamycin (mTOR), and S6.
Objective...
Dysembryoplastic neuroepithelial tumors (DNT) are benign hamartomatous tumors characterized by intractable epilepsy and common localization in the supratentorial cortex, but thalamic involvement in DNT is extremely rare. A 2-year 4-month-old boy presented with intractable epilepsy due to a tumorous lesion in the frontal lobe expanding to the thalam...
Background:
Chemotherapy for malignant neoplasms sometimes induces unconjugated hyperbilirubinemia, resulting in the early cessation of treatment. We evaluated the role of variations in the bilirubin uridine-5-diphosphate (UDP)-glucuronosyltransferase gene (UGT1A1) in unconjugated hyperbilirubinemia development during chemotherapy in pediatric pat...
Background
Resistance to thyroid hormone beta (RTHβ) is a rare and usually dominantly inherited syndrome caused by mutations of the thyroid hormone receptor β gene (THRB). In severe cases, it is rarely challenging to control manifestations using daily therapeutic replacement of thyroid hormone.
Case presentation
The present case study concerns an...
Objective:
We previously reported that biallelic mutations in dual oxidase 2 (DUOX2) cause transient hypothyroidism. Since then, many cases with DUOX2 mutations have been reported. However, the clinical features and prognosis of individuals with DUOX2 defects have not been clarified.
Objective:
We investigated the prognosis of patients with cong...
Background:
Crigler-Najjar syndrome type I (CN-1) and type II (CN-2) are rare hereditary unconjugated hyperbilirubinemia disorders. However, there have been no reports regarding the co-existence of CN-1 and CN-2 in one family. We experienced a case of an Iranian family that included members with either CN-1 or CN-2. Genetic analysis revealed a mut...
Hypomyelination in developing brain is often accompanied by congenital metabolic disorders. Menkes kinky hair disease is an X-linked neurodegenerative disease of impaired copper transport, resulting from a mutation of the Menkes disease gene, a transmembrane copper-transporting p-type ATPase gene (ATP7A). In a macular mutant mouse model, the murine...
Newborns commonly develop physiological hyperbilirubinemia (also known as jaundice). With increased bilirubin levels being observed in breast-fed infants, breast-feeding has been recognized as a contributing factor for the development of neonatal hyperbilirubinemia. Bilirubin undergoes selective metabolism by UDP-glucuronosyltransferase (UGT) 1A1 a...
Non-O157 Shiga toxin-producing Escherichia coli (STEC) strains are increasingly recognized as foodborne pathogens that trigger hemolytic uremic syndrome (HUS). The detection and isolation of these strains is important, but distinguishing their bacteriological profiles is difficult. A 2-year-old girl developed HUS with mild renal involvement 22 days...
This is the first report of symptomatic Meckel diverticulum in a newborn, in which direct compression by a short mesodiverticular band (MDB) caused intestinal obstruction. A short MDB can cause intestinal obstruction due to direct compression. There are two mechanisms by which Meckel diverticulum with MDB can cause intestinal obstruction: internal...
Hereditary unconjugated hyperbilirubinemias; Crigler-Najjar syndrome type I (CN-1), type II (CN-2) and Gilbert syndrome (GS), all result from mutations of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). Often, to distinguish between CN-2 and GS is difficult because borderline of two syndromes is unclear. We analyzed the genotypes and pheno...
Phenylketonuria (PKU) is caused by a defect in phenylalanine hydroxylase (PAH). More than 500 mutations have been reported for the gene encoding PAH. However, approximately 1%-5% of these include large deletions and large duplications that cannot be detected by conventional methods.
In this report we tried to fully characterize a PAH-deficient pati...
AimsTo investigate the molecular and clinical characteristics of the largest series of Japanese patients with glucokinase maturity-onset diabetes of the young (GCK-MODY), and to find any features specific to Asian people.Methods
We enrolled 78 Japanese patients with GCK-MODY from 41 families (55 probands diagnosed at the age of 0–14 years and their...
To evaluate the role of bilirubin UDP-glucuronosyltransferase family 1, polypeptide A1 (UGT1A1) gene variations on prolonged unconjugated hyperbilirubinemia associated with breast milk feeding (breast milk jaundice [BMJ]).
UGT1A1 gene allelic variation was analyzed in 170 Japanese infants with BMJ with polymerase chain reaction-direct sequencing, a...
Plummer's disease is relatively rare in Japan, particularly among children. We encountered a pediatric case of Plummer's disease in which favorable outcomes were obtained after the surgical resection. The patient was a 14-year-old girl who was referred to the pediatric department of our hospital for detailed examination of tachycardia. Blood tests...
In Asians, mutations in the known maturity-onset diabetes of the young (MODY) genes have been identified in only <15% of patients. These results were obtained mostly through studies on adult patients.
To investigate the molecular basis of Japanese patients with pediatric-onset MODY-type diabetes.
Eighty Japanese patients with pediatric-onset MODY-t...
Taga T, Itoh E, Noda Y, Kato H, Maruo Y, Takano T, Ohta S, Takeuchi Y, Kumaki S. Successful unrelated umbilical cord blood cell transplantation without conditioning for a neonate with severe combined immunodeficiency. Pediatr Transplantation 2011: 15: E152–E155. © 2010 John Wiley & Sons A/S.
Abstract: A neonate was diagnosed as having SCID from his...
The case of a 14-year-old girl who developed Epstein-Barr virus-related lymphoproliferative disorder, cytomegalovirus reactivation, and Varicella zoster virus encephalitis during treatment for medulloblastoma is described. The patient was diagnosed with a cerebral medulloblastoma and treated with systemic chemotherapy, intrathecal chemotherapy, and...
Prolonged unconjugated hyperbilirubinemia in infants associated with breast milk feeding is a common pediatric problem known as breast milk jaundice (BMJ). A polymorphic mutation (G71R) of bilirubin UDP-glucuronosyltransferase (UGT1A1) is a known cause of BMJ on the infantile side, but the responsible components of breast milk are not currently kno...
The UDP-glucuronosyltransferases (UGTs) comprise a major excretion pathway for diverse endogenous and exogenous substrates. Relations are reported between polymorphisms of exon 1 of UGT1 and drug side effects or carcinogenesis, but few studies exist of common exon polymorphisms that exert influence throughout UGT1 isoforms. We analysed the polymorp...
Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent ja...
Gilbert syndrome is caused by defects in bilirubin UDP-glucuronosyltransferase (UGT1A1). The most common variation believed to be involved is A(TA)7TAA. Although several polymorphisms have been found to link with A(TA)7TAA, the combined effect of regulatory polymorphisms in the development of Gilbert syndrome remains unclear.
In an analysis of 15 p...
Table S1: Results of multiple regression analyses. Changes in transcriptional activity due to the polymorphisms were analyzed by multiple regression analysis. ACT = A1X1A2X2A3X3 ACT0. Notation: ACT: transcriptional activity; ACT0: transcriptional activity of the wild type vector, that is fixed to 1 in our study; A1, A2 and A3: coefficient of c.-327...
Table S2: Diplotype of Caucasians and Japanese. We detected 14 kinds of diplotypes in our study from four different groups: Japanese random subjects, Japanese patients with Gilbert syndrome having homozygous A(TA)7TAA, normal Caucasians, and Caucasian patients with Gilbert syndrome.
There have been many studies of phase-I drug metabolism (e.g., CYP450s) in personalized medicine research. By contrast, functional genetic variation in the phase-II detoxification pathways is relatively less appreciated. UDP-glucuronosyltransferases (UGTs) comprise a group of catabolic enzymes involved in the detoxification and excretion of drugs....
The aim of this study was to determine whether seizure susceptibility due to antihistamines is provoked in patients with febrile seizures. The study population comprised 14 patients with simple febrile seizures and 35 patients with complex febrile seizures. Detailed clinical manifestations were compared between patients with and without administrat...
Simultaneous presence of hemolytic anemia and bilirubin UDP-glucuronosyltransferase deficiency is a possible cause of misdiagnosis. Seven-year-old and 17-year-old brothers and a 15-year-old sister consecutively suffered from aplastic crises. Although few spherocytes were present, the siblings and their mother had diagnoses of hereditary spherocytos...
Mutations in dual oxidase (DUOX2) have been proposed as a cause of congenital hypothyroidism. Previous reports suggest that biallelic mutations of DUOX2 cause permanent congenital hypothyroidism and that monoallelic mutations cause transient congenital hypothyroidism.
To clarify the inheritance of hypothyroidism, we looked at the DUOX2 gene in pati...
Uridine 5'-diphosphate glucuronosyltransferases (UGTs) are part of a major elimination pathway for endobiotics and xenobiotics. UGT1A9 is a UGT that catalyses the conjugation of endogenous oestrogenic and thyroid hormones, acetaminophen, SN-38 (an active metabolite of irinotecan) and phenols. UGT1A9 is the only isoform that catalyses the glucuronid...
Serum bilirubin level is an essential factor included in the first step in evaluating living liver donor candidates. Our evaluation strategy was examined in living donors with possible Gilbert's syndrome (GS). When donor candidates had hyperbilirubinemia (>1.5 mg/dl), but otherwise normal liver function tests, their genomic DNA was isolated from le...
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