- Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. [Journal Article]
- HCHepatol Commun 2018; 2(5):504-514
- Genetic variants in the adenosine triphosphate-binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such...
Genetic variants in the adenosine triphosphate-binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid-associated cholelithiasis, and intrahepatic cholestasis of pregnancy. The aim of this multicenter project was to collect information on onset and progression of this entity in different age groups and to assess the relevance of this disease for the differential diagnosis of chronic liver disease. Clinical and laboratory data of 38 patients (17 males, 21 females, from 29 families) with homozygous or (compound) heterozygous ABCB4 mutations were retrospectively collected. For further analysis, patients were grouped according to the age at clinical diagnosis of ABCB4-associated liver disease into younger age (<18 years) or adult age (≥18 years). All 26 patients diagnosed in childhood presented with pruritus (median age 1 year). Hepatomegaly and splenomegaly were present in 85% and 96% of these patients, respectively, followed by jaundice (62%) and portal hypertension (69%). Initial symptoms preceded diagnosis by 1 year, and 13 patients received a liver transplant (median age 6.9 years). Of note, 9 patients were misdiagnosed as biliary atresia, Alagille syndrome, or PFIC type 1. In the 12 patients with diagnosis in adulthood, the clinical phenotype was generally less severe, including intrahepatic cholestasis of pregnancy, low phospholipid-associated cholelithiasis, or (non)cirrhotic PFIC3. Conclusion: ABCB4 deficiency with onset in younger patients caused a more severe PFIC type 3 phenotype with the need for liver transplantation in half the children. Patients with milder phenotypes are often not diagnosed before adulthood. One third of the children with PFIC type 3 were initially misdiagnosed, indicating the need for better diagnostic tools and medical education. (Hepatology Communications 2018;2:504-514).
- Diagnostic and therapeutic profiles of serum bile acids in women with intrahepatic cholestasis of pregnancy-a pseudo-targeted metabolomics study. [Journal Article]
- CCClin Chim Acta 2018 Apr 27; 483:135-141
- CONCLUSIONS: The profiles of serum bile acids in women with ICP became more clear under the UDCA therapy, and were fully recovered after the delivery.
- Impact of adopting the 2013 World Health Organization criteria for diagnosis of gestational diabetes in a multi-ethnic Asian cohort: a prospective study. [Journal Article]
- BPBMC Pregnancy Childbirth 2018 Mar 21; 18(1):69
- CONCLUSIONS: Adoption of the 2013 WHO criteria, without the 1-h glycaemia measurement, reduced the GDM rate. Lowering the fasting glucose threshold identified women who might benefit from treatment, but raising the 2-h threshold may fail to identify women at increased risk of adverse pregnancy and future metabolic outcomes.
- Jaundice in a pregnant woman. [Case Reports]
- AGActa Gastroenterol Belg 2017 Jul-Sep; 80(3):422-424
- A 34-year-old woman in the 22nd week of gestation presented with generalized pruritis and weight loss since the first trimester of pregnancy. Physical examination revealed cutaneous scratch lesions, ...
A 34-year-old woman in the 22nd week of gestation presented with generalized pruritis and weight loss since the first trimester of pregnancy. Physical examination revealed cutaneous scratch lesions, jaundice, and hepatomegaly. Blood tests revealed cholestasis with elevated direct bilirubinemia. Auto-antibody and viral hepatitis tests were negative. Liver ultrasound was normal. The initial diagnosis was cholestasis of pregnancy. However despite treatment with ursodeoxycholic acid, the patient did not improve. Delivery was by cesarean section at the 26th week of pregnancy for obstetrical reasons. A new liver ultrasound showed a heterogeneous nodular mass. Nuclear magnetic resonance (NMR) of the liver showed an 11-cm mass centered on the hilum, dilated intrahepatic bile ducts, involvement of the hepatic veins, and hilar adenopathy. A liver biopsy revealed fibrolamellar hepatocellular carcinoma (FHC).
- Maternal and neonatal hyponatremia during labor: a case series. [Journal Article]
- JMJ Matern Fetal Neonatal Med 2018 Mar 12; :1-5
- CONCLUSIONS: Psychogenic drinking during labor and preeclampsia may predispose to maternal hyponatremia, resulting in neonatal hyponatremia. Early recognition and treatment can prevent further maternal deterioration and adverse neonatal sequelae.
- Impacts of different methods of conception on the perinatal outcome of intrahepatic cholestasis of pregnancy in twin pregnancies. [Journal Article]
- SRSci Rep 2018 Mar 05; 8(1):3985
- Twin pregnancies have a higher prevalence of intrahepatic cholestasis of pregnancy (ICP) than single pregnancies. It is unknown whether in vitro fertilization-embryo transfer (IVF-ET) influences the ...
Twin pregnancies have a higher prevalence of intrahepatic cholestasis of pregnancy (ICP) than single pregnancies. It is unknown whether in vitro fertilization-embryo transfer (IVF-ET) influences the fetal outcomes in twin pregnancies complicated by ICP. This study aimed to explore the impact of IVF-ET on the perinatal outcomes of ICP in twin pregnancy. Clinical data from 142 twin pregnant women complicated with ICP were retrospectively analyzed, including 51 patients who conceived through IVF-ET (IVF group) and 91 patients with spontaneous conception (SC group). Several biochemical indicators and perinatal outcomes were analyzed. Compared to the SC group, the IVF group had a higher incidence of early-onset ICP (P = 0.015) and more frequent clinical symptoms (P = 0.020), including skin pruritus, skin scratch, and jaundice. Furthermore, the IVF group had higher rates of neonatal asphyxia (IVF vs. SC, 9.80% vs. 1.10%, P = 0.023) and premature delivery (IVF vs. SC, 96.08% vs. 83.52%, P = 0.027) compared to the SC group. The IVF-conceived twin pregnancy group had a higher risk of early-onset ICP and suffered from clinical symptoms and poor perinatal outcomes.
- Risk Factors and Immediate Neonatal Outcome of Multiple Pregnancies in a SCANU of A Tertiary Care Hospital, Bangladesh. [Journal Article]
- MMMymensingh Med J 2018; 27(1):13-17
- Multiple pregnancies are a significant risk factor for maternal and perinatal morbidity due to inherent biological risks. The present study was aimed to determine the risk factors and to evaluate the...
Multiple pregnancies are a significant risk factor for maternal and perinatal morbidity due to inherent biological risks. The present study was aimed to determine the risk factors and to evaluate the immediate neonatal outcome of multiple pregnancies. This descriptive observational study was conducted in the newly established Special Care Neonatal Unit (SCANU) of Mymensingh Medical College Hospital (MMCH), Bangladesh from January 2015 to March 2015. Total 86 newborns of multiple pregnancies who were admitted during the study period were included in the study. Among them 34 pairs were twin, and 6 sets of triplets were present. Among all infants in the study 79.1% were twin and 20.9% were triplet. According to our observation most of the mother aged between 20-29 years (67.5%) and majorities of them were multi-para (62.5%). Preterm delivery occurred in 70.0% cases. 75% newborns were delivered by caesarian section and remaining by vaginal route. The most common risk factors in present study are use of ovulation induction drugs (52.5%) for sub fertility followed by family history of multiple gestations. In 35.0% cases we did not find any cause. Common morbidities of the infants were preterm low birth weight (95.3%), neonatal jaundice (81.3%), RDS (34.8%), perinatal asphyxia (PNA) (17.4%), neonatal sepsis (25.0%) and congenital anomalies (23.2%). Mortality rate of twin was 30% and for triplets it was 50%. Among total study population mortality rate was 30.2%. Main causes of mortality was preterm low birth weight (76%), RDS (57.6%), septicaemia (26%), PNA (19.0%). Morbidities and mortalities in infants of multiple pregnancies are observed much higher than singleton pregnancy. We hope that in light of our findings regarding risk factors like assisted reproduction and their consequences over mother and newborn, periodic reviews will be done in future to reduce the incidence and the unfavourable outcome of multiple pregnancy.
- No. 240-Cytomegalovirus Infection in Pregnancy. [Journal Article]
- JOJ Obstet Gynaecol Can 2018; 40(2):e134-e141
- CONCLUSIONS: The quality of evidence reported in this document has been assessed using the evaluation of evidence criteria in the Report of the Canadian Task Force on Preventive Health Care (Table 1).
- Elevated serum alkaline phosphatase · generalized pruritus · Dx? [Case Reports]
- JFJ Fam Pract 2018; 67(2):E12-E14
- A 34-year-old woman was referred to the hepatology clinic for evaluation of an increased serum alkaline phosphatase (ALP) level. She was gravida 5 and in her 38th week of gestation. Her obstetric his...
A 34-year-old woman was referred to the hepatology clinic for evaluation of an increased serum alkaline phosphatase (ALP) level. She was gravida 5 and in her 38th week of gestation. Her obstetric history was significant for 2 uncomplicated spontaneous term vaginal deliveries resulting in live births and 2 spontaneous abortions. The patient reported generalized pruritus for 2 months prior to the visit. She had no comorbidities and denied any other symptoms. She reported no family history of liver disease or complications during pregnancy in relatives. The patient did not smoke or drink, and had come to our hospital for her prenatal care visits. The physical exam revealed normal vital signs, no jaundice, a gravid uterus, and acanthosis nigricans on the neck and axilla with scattered excoriations on the arms, legs, and abdomen. Her serum ALP level was 1093 U/L (normal: 50-136 U/L). Immediately before this pregnancy, her serum ALP had been normal at 95 U/L, but it had since been increasing with a peak value of 1134 U/L by 37 weeks' gestation. Serum transaminase activities and albumin and bilirubin concentrations were normal, as was her prothrombin time. The rest of her lab tests were also normal, including her fasting serum bile acid concentration, which was 9 mcmol/L (normal: 4.5-19.2 mcmol/L).
New Search Next
- Sero-prevalence and risk factors for hepatitis E virus infection among pregnant women in the Cape Coast Metropolis, Ghana. [Journal Article]
- PlosPLoS One 2018; 13(1):e0191685
- CONCLUSIONS: HEV sero-prevalence among pregnant women in the Cape Coast Metropolis is high enough to deserve more attention than it has received so far. It is therefore important to conduct further research on the potential impact on maternal and neonatal mortality and morbidity in Ghana.