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neonatal cholestasis syndrome

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https://www.readbyqxmd.com/read/28583322/ocular-findings-in-patients-with-cholestatic-disorders-of-infancy-a-single-centre-experience
#1
Hanaa El-Karaksy, Dalia Hamed, Hanan Fouad, Engy Mogahed, Heba Helmy, Fotouh Hasanain
BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision...
June 2, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/28506343/-current-status-of-research-on-infantile-cholestatic-liver-disease-in-china-a-visualization-analysis
#2
Qiong Liao, Chao-Min Wan, Yu Zhu, Xiao-Yan Yang, Min Shu
OBJECTIVE: To investigate the current status of research on infantile cholestatic liver disease in China and future research trends. METHODS: A co-word analysis was performed in October 2016. Document retrieval and screening were performed in the Chinese databases CNKI and Wanfang Data using "cholestasis" and "infant" as key words. Excel 2010 was used to establish a co-occurrence matrix of high-frequency key words, and Ucinet 6.0 and Netdraw were used to develop a visualized network of these high-frequency key words...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28465853/novel-heterozygous-mutations-in-jag1-and-notch2-genes-in-a-neonatal-patient-with-alagille-syndrome
#3
Alisa Brennan, Anil Kesavan
Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28028560/pathophysiology-prevention-treatment-and-outcomes-of-intestinal-failure-associated-liver-disease
#4
REVIEW
Noora H Al-Shahwani, David L Sigalet
BACKGROUND: Intestinal failure-associated liver disease (IFALD) remains a serious problem in the treatment of infants with nutritional problems and short bowel syndrome. METHODS: A review of the recent literature from 2010 to 2016, concentrating on articles related to the pathophysiology of IFALD and to outcomes of novel nutritional and pharmacological therapies for neonatal cholestasis in the post-surgical neonate. RESULTS: The pathophysiology of IFALD relates to an increase sensitivity of the neonatal liver to cholestasis in the non-fed state; prolonged cholestasis almost inevitably results in liver damage which will progress from fibrosis to cirrhosis...
April 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28003725/neonatal-cholestasis-as-initial-presentation-of-portosystemic-shunt-a-case-report
#5
Güzide Doğan, Fatih Düzgün, Serdar Tarhan, Yeliz Çağan Appak, Erhun Kasırga
Congenital intrahepatic portosystemic shunts are rare in children. Portosystemic venous malformations are characterized by extreme clinical variability. We report a full-term 33-day-old male infant presenting with neonatal jaundice. On physical examination, he had generalized icterus and the liver was palpable 3.5 cm below the right costal margin. He had no other symptoms. Laboratory tests showed AST 632 U/L, ALT 198 U/L, total bilirubin 12.1 mg/dL, conjugated bilirubin 10.2 mg/dL, alkaline phosphatase 753 U/L, GGT 47 U/L and glucose 67 U/L...
December 2016: Journal of Clinical and Experimental Hepatology
https://www.readbyqxmd.com/read/27890981/neonatal-cholestasis-single-centre-experience-in-central-india
#6
Mayank Jain, Sagar Adkar, Chandrashekhar Waghmare, Jenisha Jain, Shikhar Jain, Kamna Jain, Gouri Rao Passi, Rashmi Shad Vinay, M K Soni
BACKGROUND: Neonatal cholestasis syndrome (NCS) is a major cause of morbidity and mortality in infants. The disorder has rarely been studied in centers from Central India. OBJECTIVES: To study the prevalence, clinical presentation and etiology of NCS at a tertiary referral center in Central India. MATERIALS AND METHODS: The study was carried out at a tertiary referral center in Central India. The study is a descriptive study. The records of all patients with suspected NCS treated in the Department of Pediatrics from 2007-2012 were analyzed...
October 2016: Indian Journal of Community Medicine
https://www.readbyqxmd.com/read/27843908/anterior-chamber-pathology-in-alagille-syndrome
#7
Derek K Ho, Alex V Levin, William V Anninger, David A Piccoli, Ralph C Eagle
BACKGROUND: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome. METHODS: Gross and histologic preparations of four eyes of two patients. RESULTS: Posterior embryotoxon is seen in both cases, with iris processes extending to the embryotoxon in case 1...
October 2016: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27749550/evaluating-the-effectiveness-and-safety-of-ursodeoxycholic-acid-in-treatment-of-intrahepatic-cholestasis-of-pregnancy-a-meta-analysis-a-prisma-compliant-study
#8
REVIEW
Xiang Kong, Yan Kong, Fangyuan Zhang, Tingting Wang, Jin Yan
BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) is a specific pregnancy-related disorder without standard medical therapies. Ursodeoxycholic acid (UDCA) is the most used medicine, but the efficacy and safety of UDCA remain uncertain. Several meta-analyses had been made to assess the effects of UDCA in ICP. However, the samples were not large enough to convince obstetricians to use UDCA. We conducted a meta-analysis to evaluate the effects and safety of UDCA in patients with ICP, which included only randomized controlled trials (RCTs)...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27630751/cytomegalovirus-may-mimic-the-presentation-of-intrahepatic-cholestasis-and-hemolysis-elevated-liver-enzymes-and-low-platelets-in-immunosuppressed-pregnant-women
#9
Gurleen Wander, Francesa Neuberger, Mandish K Dhanjal, Catherine Nelson-Piercy, May Ching Soh
Most published cases of cytomegalovirus infection in pregnancy relate to congenital abnormalities in neonates infected in early pregnancy, while the mother remains asymptomatic. We describe a diagnostically challenging case of an immunosuppressed woman with scleroderma who developed deranged liver function tests attributed to intrahepatic cholestasis of pregnancy and haemolysis, elevated liver enzymes and low platelets syndrome but was ultimately found to have disseminated cytomegalovirus. Cytomegalovirus can present in a myriad of ways...
September 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27614462/angioid-streaks-in-aagenaes-syndrome
#10
Viara Shoumnalieva-Ivanova, Ivan Tanev, Yani Zdravkov, Simeon Monov, Russka Shumnalieva
Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age and severe chronic lymphoedema, mainly affecting the lower extremities. The condition is autosomal recessively inherited, and the gene is located on chromosome 15q. The locus, LCS1, was mapped to a 6.6 cM region on chromosome 15. Angioid streaks are visible irregular crack-like dehiscences in bruch's membrane that are associated with atrophic degeneration of the overlying retinal pigment epithelium...
September 10, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27566421/progress-in-pediatrics-in-2015-choices-in-allergy-endocrinology-gastroenterology-genetics-haematology-infectious-diseases-neonatology-nephrology-neurology-nutrition-oncology-and-pulmonology
#11
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Virginia Mirra, Sergio Bernasconi
This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...
August 27, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27543379/risk-factors-for-necrotizing-enterocolitis-in-neonates-a-retrospective-case-control-study
#12
Qi Lu, Shupeng Cheng, Min Zhou, Jialin Yu
BACKGROUND: Necrotizing enterocolitis (NEC) in neonates is devastating, and risk-factor identification is crucial. This study aimed to evaluate risk factors for NEC in different gestational age (GA) groups. METHODS: Risk factors associated with NEC were investigated using a retrospective case-control design. Patients with Bell's Stage NEC≥II were divided into three groups based on GA: I, <34 weeks; II, ≥34 weeks but <37 weeks; III, ≥37 weeks. Each case was paired with two GA- and weight-matched controls...
April 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27530281/an-unusual-presentation-of-kabuki-syndrome-with-orbital-cysts-microphthalmia-and-cholestasis-with-bile-duct-paucity
#13
Nina Bögershausen, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, Bernd Wollnik
Kabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either KMT2D or KDM6A. We describe a 14-year-old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and neonatal cholestasis with bile duct paucity, in addition to the typical clinical features of KS. We identified the novel KMT2D mutation c...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27448789/mutations-in-tfam-encoding-mitochondrial-transcription-factor-a-cause-neonatal-liver-failure-associated-with-mtdna-depletion
#14
Ashlee R Stiles, Mariella T Simon, Alexander Stover, Shaya Eftekharian, Negar Khanlou, Hanlin L Wang, Shino Magaki, Hane Lee, Kate Partynski, Nagmeh Dorrani, Richard Chang, Julian A Martinez-Agosto, Jose E Abdenur
In humans, mitochondrial DNA (mtDNA) depletion syndromes are a group of genetically and clinically heterogeneous autosomal recessive disorders that arise as a consequence of defects in mtDNA replication or nucleotide synthesis. Clinical manifestations are variable and include myopathic, encephalomyopathic, neurogastrointestinal or hepatocerebral phenotypes. Through clinical exome sequencing, we identified a homozygous missense variant (c.533C>T; p.Pro178Leu) in mitochondrial transcription factor A (TFAM) segregating in a consanguineous kindred of Colombian-Basque descent in which two siblings presented with IUGR, elevated transaminases, conjugated hyperbilirubinemia and hypoglycemia with progression to liver failure and death in early infancy...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27386973/pituitary-stalk-interruption-syndrome-cause-clinical-manifestations-diagnosis-and-management
#15
Antonis Voutetakis, Amalia Sertedaki, Catherine Dacou-Voutetakis
PURPOSE OF REVIEW: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset. In this review, recent advances with respect to the cause of PSIS, clinical characteristics leading to earlier diagnosis, and management are outlined. RECENT FINDINGS: Diagnosis of PSIS is often delayed probably because clinical findings such as neonatal hypoglycemia, cholestasis, and/or micropenis as well as decreasing growth velocity are not appropriately and timely validated...
August 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27257052/histamine-is-correlated-with-liver-fibrosis-in-biliary-atresia
#16
Kejun Zhou, Guoxiang Xie, Jie Wen, Jun Wang, Weihua Pan, Ying Zhou, Yongtao Xiao, Yang Wang, Wei Jia, Wei Cai
BACKGROUND AND AIMS: Biliary atresia (BA) is a severe neonatal cholestasis disease that is caused by obstruction of extra bile ducts. Liver fibrosis progresses dramatically in BA, and the underlying molecular mechanism is largely unknown. METHODS: Amino acids and biogenic amines were quantified by targeted metabolomic methods in livers of 52 infants with BA and 16 infants with neonatal hepatitis syndrome (NHS). Normal adjacent nontumor liver tissues from 5 hepatoblastoma infants were used as controls...
August 2016: Digestive and Liver Disease
https://www.readbyqxmd.com/read/27250337/visceral-symptoms-as-a-key-diagnostic-sign-for-the-early-infantile-form-of-niemann-pick-disease-type-c-in-a-russian-patient-a-case-report
#17
A V Degtyareva, S V Mikhailova, E Y Zakharova, E L Tumanova, A A Puchkova
BACKGROUND: Niemann-Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann-Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over varied periods of time. The incidence and epidemiology of Niemann-Pick disease type C in Russia have not been characterized...
June 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27148679/an-emerging-recognizable-facial-phenotype-in-association-with-mutations-in-gli-similar-3-glis3
#18
Paul Dimitri, Elisa De Franco, Abdelhadi M Habeb, Fatih Gurbuz, Khairya Moussa, Doris Taha, Jerry K H Wales, Jacob Hogue, Anne Slavotinek, Ambika Shetty, Meena Balasubramanian
Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by enlarged kidneys and multiple small cysts with deficient cortico-medullary junction differentiation and normal kidney function...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26914089/arthrogryposis-renal-tubular-dysfunction-cholestasis-syndrome-a-cause-of-neonatal-cholestasis-case-report
#19
EDITORIAL
Ozkan Ilhan, Esra A Ozer, Senem A Ozdemir, Sinem Akbay, Seyma Memur, Berat Kanar, Mustafa M Tatli
Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome...
February 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/26858187/molecular-genetic-dissection-and-neonatal-infantile-intrahepatic-cholestasis-using-targeted-next-generation-sequencing
#20
Takao Togawa, Tokio Sugiura, Koichi Ito, Takeshi Endo, Kohei Aoyama, Kei Ohashi, Yutaka Negishi, Toyoichiro Kudo, Reiko Ito, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Shigeo Kure, Shinji Saitoh
OBJECTIVES: To ascertain a molecular genetic diagnosis for subjects with neonatal/infantile intrahepatic cholestasis (NIIC) by the use of next-generation sequencing (NGS) and to perform a genotype-phenotype correlation. STUDY DESIGN: We recruited Japanese subjects with NIIC who had no definitive molecular genetic diagnosis. We developed a diagnostic custom panel of 18 genes, and the amplicon library was sequenced via NGS. We then compared clinical data between the molecular genetically confirmed subjects with NIIC...
April 2016: Journal of Pediatrics
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