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prolonged neonatal jaundice

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https://www.readbyqxmd.com/read/30086867/central-adrenal-insufficiency-in-children-and-adolescents
#1
REVIEW
Giuseppa Patti, Chiara Guzzeti, Natascia Di Iorgi, Anna Elsa Maria Allegri, Flavia Napoli, Sandro Loche, Mohamad Maghnie
Central adrenal insufficiency (CAI) is a life-threatening condition caused by either pituitary disease (secondary adrenal insufficiency) or impaired hypothalamic function with inadequate CRH production (tertiary adrenal insufficiency). ACTH deficiency may be isolated or, more frequently, occur in conjunction with other pituitary hormone deficiencies and midline defects. Genetic mutations of the TBX19 causing isolated CAI are rare but a number of genes encoding transcription factors involved in hypothalamic-pituitary gland development, as well as other genes including POMC and PC1, are associated with ACTH deficiency...
August 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30022113/pregnancy-outcomes-reported-during-the-13-year-treat-registry-a-descriptive-report
#2
Gary R Lichtenstein, Brian G Feagan, Uma Mahadevan, Bruce A Salzberg, Wayne Langholff, G James Morgan, Michael Safdi, Riikka Nissinen, François Taillard, William J Sandborn, Russell D Cohen
OBJECTIVES: We described pregnancy outcomes in Crohn's disease (CD) patients enrolled in the TREAT Registry who received infliximab before, or during pregnancy and those not treated with infliximab or any biologic agent. METHODS: In the TREAT Registry (1999-2012), pregnancy outcomes were analyzed from maternal and paternal patients exposed to infliximab ≤365 days (gestational exposure), >365 days (pre-gestational exposure) of pregnancy outcome or without infliximab exposure (non-biologic exposed)...
July 19, 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29983436/complications-among-mothers-and-new-born-due-to-delivery-process-in-rupandehi-district-nepal
#3
Shanta Sharma, Indra Dhakal
BACKGROUND: Child birth is a universally celebrated occasion, yet everyday for thousands of women child birth is experienced not as a joyful event as it should be, but as a private hell that may even end in death. The objective of this study is to determine the complications of normal delivery and cesarean section on the mothers and new born. METHODS: A descriptive study was conducted in two selected hospitals of Rupandehi district, Nepal. Data was collected as per pretested structured proforma from 550 respondents who were the mothers and new born delivered normally and through cesarean section randomly till the completion of sample size and analyzed by using SPSS, MANOVA and Chi-square test to determine associations between categorical variables...
July 3, 2018: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/29923088/sialuria-ninth-patient-described-has-a-novel-mutation-in-gne
#4
Noelia Nunez Martinez, Michelle Lipke, Jacqueline Robinson, Bridget Wilcken
Sialuria is a rare autosomal dominant inborn error of metabolism characterized by cytoplasmic accumulation and urinary excretion of gram quantities of free sialic acid due to failure of feedback inhibition of the rate-limiting enzyme in the sialic acid synthesis pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK). To date, eight cases had been published worldwide, all with heterozygous missense variants at the allosteric site, specifically at Arginine 294 (formerly 263) and Arginine 297 (formerly 266) of GNE...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29858850/a-rare-cause-of-neonatal-hypoglycemia-in-two-siblings-tbx19-gene-mutation
#5
REVIEW
Edip Unal, Ruken Yıldırım, Funda Feryal Taş, Suat Tekin, Askin Sen, Yusuf Kenan Haspolat
Congenital isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rarely seen disease characterized by low serum ACTH and cortisol levels accompanied by normal levels of the other anterior pituitary hormones. In these patients, severe hypoglycemia, convulsions, and prolonged cholestatic jaundice are expected findings in the neonatal period. In this paper, we present two siblings with TBX19 gene mutation. The first case was investigated at the age of 2 months for severe hypoglycemia, recurrent convulsions, and prolonged cholestatic jaundice persisting since the neonatal period...
June 2018: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29807952/clinical-and-biochemical-characteristics-of-infants-with-prolonged-neonatal-jaundice
#6
S L Siu, L W Chan, A N Kwong
INTRODUCTION: Protocols for investigating neonatal prolonged jaundice vary and the yield from screening has not been assessed. International guidelines recommend establishing cholestasis before proceeding to investigate the underlying pathology. However, in most hospitals administered by the Hospital Authority, full liver function is checked at the first neonatal jaundice clinic visit. To study the diagnostic yield of this approach, we carried out a retrospective study of all infants referred for prolonged jaundice...
June 2018: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/29686715/knowledge-level-and-determinants-of-neonatal-jaundice-a-cross-sectional-study-in-the-effutu-municipality-of-ghana
#7
Prince Adoba, Richard K D Ephraim, Kate Adomakowaah Kontor, Joseph-Josiah Bentsil, Patrick Adu, Maxwell Anderson, Samuel Asamoah Sakyi, Paul Nsiah
Background: Neonatal jaundice (NNJ) is a major cause of hospital admission during the neonatal period and is associated with significant mortality. This case-control study with cross-sectional design sought to identify the possible factors associated with neonatal jaundice and assess maternal knowledge level of this condition. Methods: One hundred and fifty (150) neonates comprising 100 with clinically evident jaundice and 50 without jaundice were conveniently recruited from the Trauma and Specialist Hospital in the Effutu Municipality...
2018: International Journal of Pediatrics
https://www.readbyqxmd.com/read/29499989/clinical-pathologic-and-genetic-features-of-neonatal-dubin-johnson-syndrome-a-multicenter-study-in-japan
#8
Takao Togawa, Tatsuki Mizuochi, Tokio Sugiura, Hironori Kusano, Ken Tanikawa, Takato Sasaki, Fumio Ichinose, Seiichi Kagimoto, Takahisa Tainaka, Hiroo Uchida, Shinji Saitoh
OBJECTIVE: To clarify the clinical, pathologic, and genetic features of neonatal Dubin-Johnson syndrome. STUDY DESIGN: Ten patients with neonatal Dubin-Johnson syndrome were recruited from 6 pediatric centers in Japan between September 2013 and October 2016. Clinical and laboratory course, macroscopic and microscopic liver findings, and molecular genetic findings concerning ATP-binding cassette subfamily C member 2 (ABCC2) were retrospectively and prospectively examined...
May 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29456119/prevalence-of-uti-among-iranian-infants-with-prolonged-jaundice-and-its-main-causes-a-systematic-review-and-meta-analysis-study
#9
REVIEW
H H Tola, M Ranjbaran, R Omani-Samani, M Sadeghi
INTRODUCTION: An extremely variable and high prevalence of urinary tract infection (UTI) in infants with prolonged jaundice has been reported in Iran. However, there is no research from the area that has attempted to estimate pooled prevalence of UTI from considerably diverse evidence. Therefore, this systematic review and meta-analysis study aimed to estimate the prevalence of UTI in infants with prolonged jaundice who were admitted into clinics or hospitals in Iran. METHODS: A systematic review and meta-analysis was conducted of published articles on UTI prevalence in infants with prolonged jaundice in Iran...
April 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29274129/newborn-screening-for-galactosaemia
#10
REVIEW
Rohollah Lak, Bahareh Yazdizadeh, Majid Davari, Mojtaba Nouhi, Roya Kelishadi
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya-based formula...
December 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29207733/the-association-between-prolonged-jaundice-and-tata-box-dinucleotide-repeats-in-gilbert-s-syndrome
#11
Yadollah Zahed Pasha, Mousa Ahmadpor Kacho, Haleh Akhavan Niaki, Mehdi Tarighati, Ehsan Alaee
Introduction: Jaundice is a common condition during the neonatal period. Prolonged jaundice occurs in a large number of breastfed infants, considering the impact of genetic factors on the incidence of jaundice. Aim: To determine the association between prolonged jaundice and TATA box dinucleotide repeats in Gilbert's Syndrome (GS). Materials and Methods: In this case-control study, the case group consisted of 51 neonates with jaundice, aged more than two weeks with indirect bilirubin level higher than 10 mg/dl...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29122831/fifteen-minute-consultation-liver-disease-in-children
#12
Jake P Mann, Kathy Gallagher, Emer Fitzpatrick, Anil Dhawan
Liver disease in children can present in many ways from the frequently encountered prolonged neonatal jaundice to the comparatively rare acute liver failure. In this article, we will discuss 'red flags' of liver disease, the initial investigations required and when to refer to a specialist liver centre. Across all presentations, the degree of elevation of alanine aminotransferase or aspartate aminotransferase provides only little diagnostic information. Measurement of clotting is vital, and coagulopathy should be followed by a trial of intravenous vitamin K before being repeated...
August 2018: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28976903/the-role-of-cytomegalovirus-in-congenital-and-early-postnatal-infections-in-northeastern-bulgaria
#13
Zhivka D Stoykova, Lilia I Ivanova, Tatina T Todorova
BACKGROUND: Human cytomegalovirus is a ubiquitous, large enveloped DNA β-herpesvirus that, like other herpesviruses, establishes lifelong latency following primary infection. It is the most frequent cause of congenital, neonatal and early postnatal infections with long lasting sequelae. AIM: The aim of the present study was to assess the prevalence of cytomegalovirus among a cohort of newborns and 1-3-month-old children with neurological symptoms, physical retardation, prolonged jaundice, thrombocytopenic purpura and other disabilities...
September 1, 2017: Folia Medica
https://www.readbyqxmd.com/read/28883878/the-report-of-three-rare-cases-of-the-niemann-pick-disease-in-birjand-south-khorasan-eastern-iran
#14
Samaneh Noroozi Asl, Rahim Vakili, Nosrat Ghaemi, Peyman Eshraghi
Niemann-Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants. The neurological involvement is typically proceeded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno-or hepatosplenomegaly in infancy or childhood)...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28823200/probiotics-for-the-management-of-neonatal-hyperbilirubinemia-a-systematic-review-of-randomized-controlled-trials
#15
Janki Deshmukh, Mangesh Deshmukh, Sanjay Patole
BACKGROUND: Neonatal jaundice requiring phototherapy is associated with significant socioeconomic burden including hospital readmission, prolonged hospital stay, and separation of the baby from mother. OBJECTIVES: To assess the efficacy and safety of probiotics in reducing the need for phototherapy and its duration in neonatal hyperbilirubinemia. METHODS: A systematic review of randomized controlled trials (RCTs) of probiotic supplementation for prevention or treatment of jaundice in neonates (any gestation or weight) using the Cochrane methodology...
August 31, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28796996/call-for-caution-neonatal-portal-vein-thrombosis-following-enbucrilate-embolization-of-placental-chorioangioma
#16
Hian Yan Voon, Rafaie Amin, Juan Loong Kok, Kia Sing Tan
We illustrate a case of giant placental chorioangioma presenting at 20 weeks of gestation. Subsequent monitoring revealed enlargement of the lesion, associated with fetal anemia and cardiac failure, prompting in utero intervention. Amnioreduction followed by percutaneous embolization of the tumour with enbucrilate:Lipiodol Ultra-Fluid™ at a dilution of 1:5 was successfully performed. No repeat intervention or additional supportive measures were required throughout pregnancy and the baby was delivered at 36 weeks of gestation, following spontaneous labour...
2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28586151/a-heterozygous-microdeletion-of-20p12-2-3-encompassing-prokr2-and-bmp2-in-a-patient-with-congenital-hypopituitarism-and-growth-hormone-deficiency
#17
Samuel J H Parsons, Neville B Wright, Emma Burkitt-Wright, Mars S Skae, Phillip G Murray
Congenital growth hormone deficiency is a rare disorder with an incidence of approximately 1 in 4,000 live births. Pituitary development is under the control of a multitude of spatiotemporally regulated signaling molecules and transcription factors. Mutations in the genes encoding these molecules can result in hypopituitarism but for the majority of children with congenital hypopituitarism, the aetiology of their disease remains unknown. The proband is a 5-year-old girl who presented with neonatal hypoglycaemia and prolonged jaundice...
August 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28502442/neonatal-cholestasis
#18
REVIEW
Erin Lane, Karen F Murray
Neonatal jaundice is common and usually not concerning when it is secondary to unconjugated hyperbilirubinemia, below the neurotoxic level, and resolves early. Primary care providers should be vigilant, however, about evaluating infants in whom jaundice presents early, is prolonged beyond 2 weeks of life, or presents at high levels. Even in well-appearing infants, fractionated (direct and indirect) bilirubin levels should be obtained in these clinical scenarios to evaluate for potential cholestasis. This review presents an approach to the evaluation of a jaundiced infant and discusses diagnosis and management of several causes of neonatal cholestasis...
June 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/28445302/cholestasis-caused-by-panhypopituitarism-and-acquired-cytomegalovirus-infection-in-a-2-month-old-male-infant-a-case-report
#19
U Chan, Wai-Tao Chan, Wei-Hsin Ting, Che-Sheng Ho, Hsi-Che Liu, Hung-Chang Lee
RATIONALE: Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign. PATIENT CONCERNS: The patient was a 2-month-old male infant who presented with cholestasis, combined with fever and panhypopituitarism...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28443262/a-rare-association-of-central-hypothyroidism-and-adrenal-insufficiency-in-a-boy-with-williams-beuren-syndrome
#20
Devi Dayal, Dinesh Giri, Senthil Senniappan
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age...
March 2017: Annals of Pediatric Endocrinology & Metabolism
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