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hypoproteinemia in neonates

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https://www.readbyqxmd.com/read/27594755/congenital-nephrotic-syndrome-finish-type
#1
Lidvana Spahiu, Besart Merovci, Haki Jashari, Arbnore Batalli Këpuska, Blerta Elezi Rugova
INTRODUCTION: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. CASE REPORT: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive...
June 2016: Medical Archives
https://www.readbyqxmd.com/read/25381944/novel-mutations-in-the-slc25a13-gene-in-a-patient-with-niccd-and-severe-manifestations
#2
Hong Wang, Sainan Shu, Chen Chen, Zhihua Huang, DaoWen Wang
Neonatal intrahepatic cholestatic due to citrin deficiency (NICCD) is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and characterized by neonatal/infantile-onset cholestatic hepatitis syndrome associated with conjugated hyperbilirubinemia and multiple aminoacidemias. We report the case of a Chinese female patient with NICCD disease who manifested prominent clinical features. The patient was diagnosed with NICCD based on cholestasis, aminoacidemia, and hypoproteinemia. She exhibited extreme aminoacidemia, coagulation disorders and untypical myocardial damage, which are rare in other NICCD patients genetically confirmed by us...
March 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/24913588/pregnancy-outcomes-and-nutritional-indices-after-3-types-of-bariatric-surgery-performed-at-a-single-institution
#3
COMPARATIVE STUDY
Nancy C Mead, Panagiotis Sakkatos, George C Sakellaropoulos, George L Adonakis, Theodore K Alexandrides, Fotis Kalfarentzos
BACKGROUND: Nutritional status during pregnancy and the effects of nutritional deficiencies on pregnancy outcomes after bariatric surgery is an important issue that warrants further study. The objective of this study was to investigate pregnancy outcomes and nutritional indices after restrictive and malabsorptive procedures. METHODS: We investigated pregnancy outcomes of 113 women who gave birth to 150 children after biliopancreatic diversion (BPD), Roux-en-Y gastric bypass (RYGB), and sleeve gastrectomy (SG) between June 1994 and December 2011...
November 2014: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/24288598/clinical-spectrum-of-propionic-acidaemia
#4
Muhammad Rafique
Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA). Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions. The majority (85%) of the patients exhibited clinical manifestations in the 1st week of life. Regarding clinical features, lethargy, fever, poor feeding, vomiting, dehydration, muscular hypotonia, respiratory symptoms, encephalopathy, disturbance of tone and reflexes, and malnutrition were observed in 51-92% admissions...
2013: Journal of Nutrition and Metabolism
https://www.readbyqxmd.com/read/23796980/retrospective-analysis-of-acute-fatty-liver-of-pregnancy-twenty-eight-cases-and-discussion-of-anesthesia
#5
GuoXia Zhou, XiaoHong Zhang, ShengJin Ge
AIMS: To summarize the clinical features, perioperative management and maternal and neonatal outcomes of patients with acute fatty liver of pregnancy (AFLP) and to discuss the management of anesthesia in these patients. METHODS: This study was a retrospective review over a period of 5 years and 9 months; 28 cases from the Shanghai Public Health Clinical Center were included. Records were reviewed for symptoms, signs, laboratory findings, clinical courses, perioperative management and maternal and neonatal outcomes...
2013: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/21960129/hypoproteinemia-on-the-first-day-of-life-and-adverse-outcome-in-very-preterm-infants-admitted-to-the-neonatal-intensive-care-unit
#6
S Iacobelli, F Bonsante, C Lacoutière, C Ferdynus, J Cottenet, C Binquet, C Quantin, J B Gouyon
OBJECTIVE: We aimed to investigate the relationship between day-1 hypoproteinemia and severe adverse outcome (SAO) in very preterm infants admitted to the neonatal intensive care unit (NICU). STUDY DESIGN: Retrospective study of all patients born from 24 to 31 weeks gestation and cared for in our NICU over an 8-year period. Infants were excluded if the serum protein value on the first day of life was not available. RESULT: A total of 913 patients were included...
July 2012: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/21507300/-slc25a13-gene-analysis-in-neonates-with-intrahepatic-cholestasis-caused-by-citrin-deficiency
#7
Peng-Qiang Wen, Guo-Bing Wang, Zhan-Ling Chen, Dong Cui, Quan Yuan, Ping Song, Shu-Li Chen, Jian-Xiang Liao, Cheng-Rong Li
OBJECTIVE: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing. METHODS: Twenty children diagnosed as NICCD were consented to enroll in this study. PCR assays were performed to amplify the eighteen exons and its flanking sequences of SLC25A13 gene, which were defined as the upstream and downstream 50 bp from starting and ending site of the exons...
April 2011: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/21364842/intestinal-lymphangiectasia-in-adults
#8
Hugh James Freeman, Michael Nimmo
Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogammaglobulinemia, hypoalbuminemia and reduced number of circulating lymphocytes or lymphopenia. Most often, intestinal lymphangiectasia has been recorded in children, often in neonates, usually with other congenital abnormalities but initial definition in adults including the elderly has become increasingly more common...
February 15, 2011: World Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/20686339/effects-of-perfluorooctanoic-acid-pfoa-exposure-to-pregnant-mice-on-reproduction
#9
Doha Yahia, Mahmoud Abd El-Nasser, Manal Abedel-Latif, Chiaki Tsukuba, Midori Yoshida, Itaru Sato, Shuji Tsuda
Perfluorooctanoic acid (PFOA) has similar characteristics to perfluorooctane sulfonate (PFOS) in reproduction toxicity featured by neonatal death. We found that PFOS exposure to mice during pregnancy led to intracranial blood vessel dilatation of fetuses accompanied by severe lung collapse which caused neonatal mortality. Thus, we adopted the corresponding experimental design to PFOS in order to characterize the neonatal death by PFOA. Pregnant ICR mice were given 1, 5 and 10 mg/kg PFOA daily by gavage from gestational day (GD) 0 to 17 and 18 for prenatal and postnatal evaluations, respectively...
August 2010: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/20666940/clinical-diagnosis-and-treatment-of-acute-fatty-liver-of-pregnancy-a-literature-review-and-11-new-cases
#10
REVIEW
Qiang Wei, Li Zhang, Xinghui Liu
AIM: To determine the clinical presentation, biochemical findings, complications, clinical diagnosis and management of patients with acute fatty liver of pregnancy (AFLP). The influence of the mode of delivery on maternal-perinatal mortality is analyzed and two methods of diagnostic imaging are compared. MATERIAL & METHODS: Eleven cases of AFLP identified at the West China Second Hospital of Sichuan University from January 2003 to June 2008 were studied. To provide additional evidence, 342 cases of AFLP were reviewed retrospectively from original articles researched in the China National Knowledge Infrastructure between the same period...
August 2010: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/20376801/-studies-on-the-clinical-manifestation-and-slc25a13-gene-mutation-of-chinese-patients-with-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency
#11
Ya-zhi Xing, Wen-juan Qiu, Jun Ye, Lian-shu Han, Shan-shan Xu, Hui-wen Zhang, Xiao-lan Gao, Yu Wang, Xue-fan Gu
OBJECTIVE: To investigate the clinical and laboratory features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and to characterize the molecular basis and prognosis of this disease. METHODS: Twenty-six patients with NICCD were collected because of idiopathic intrahepatic cholestasis and jaundice. The diagnosis was made by routine laboratory data collection, tandem mass spectrometry (MS-MS) and gas chromatography mass spectrometry (GC-MS) analyses...
April 2010: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/19391083/placental-laser-surgery-for-severe-previable-feto-fetal-transfusion-syndrome-in-triplet-gestation
#12
Julian E De Lia, Dennis Worthington, Margaret H Carr, Menachem H Graupe, Paula J Melone
Information on feto-fetal transfusion syndrome (FFTS) in higher-order multifetal gestation is limited. We report outcomes of 10 triplet pregnancies treated by fetoscopic laser occlusion of the chorioangiopagous vessels (FLOC). The study period was August 1992 to August 2008. Inclusion criteria were gestational age < or =25 weeks and ultrasound confirmation of monochorionicity in at least one twin set and FFTS. Treatment included FLOC, exit amnioreduction, and cerclage when indicated. Hospital records, placental pathology, neonatal course, and long term follow-up of the mother and infants were reviewed...
September 2009: American Journal of Perinatology
https://www.readbyqxmd.com/read/18162705/neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency-in-korean-infants
#13
Jae Sung Ko, Jung Han Song, Sung Sup Park, Jeong Kee Seo
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal cholestasis, three infants had multiple aminoacidemia (involving citrulline, methionine, and arginine) and galactosemia, and thus were diagnosed as having NICCD...
December 2007: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/17650723/-complex-lymphatic-malformations-diagnostic-and-therapeutical-implications
#14
A L Luis, J C López, J L Encinas, O Suárez, L Burgos, M Diaz, C Soto, Z Ros
BACKGROUND: Complex lymphatic malformations (CLM) consist of disturbances of lymphatic system development, most often with a genetic origin and with mixed vascular system involvement: lymphatic, venous and capillary. They affect a large corporal area or are associated to other syndromes or systemic diseases. METHODS: We reviewed 21 patients with CLM treated in our hospital during the last 15 years. We used D2-40 monoclonal antibody (by immunohistochemistry) as lymphatic marker to evaluate the level of lymphatic involvement...
April 2007: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/16613706/-a-difficult-and-complicated-case-study-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency
#15
Yuan-Zong Song, Hu Hao, Miharu Ushikai, Guo-Sheng Liu, Xin Xiao, Takeyori Saheki, Keiko Kobayashi, Zi-Neng Wang
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices. As a mitochondrial solute carrier protein, citrin plays important roles in aerobic glycolysis, gluconeogenesis, urea cycle, and protein and nucleotide syntheses. Therefore citrin deficiency causes various and complicated metabolic disturbances, such as hypoglycemia, hyperlactic acidemia, hyperammonemia, hypoproteinemia, hyperlipidemia, and galactosemia...
April 2006: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/16549777/familial-hypercatabolic-hypoproteinemia-caused-by-deficiency-of-the-neonatal-fc-receptor-fcrn-due-to-a-mutant-beta2-microglobulin-gene
#16
Manzoor A Wani, Lynn D Haynes, Jonghan Kim, C L Bronson, Chaity Chaudhury, Sudhasri Mohanty, Thomas A Waldmann, John M Robinson, Clark L Anderson
Two siblings, products of a consanguineous marriage, were markedly deficient in both albumin and IgG because of rapid degradation of these proteins, suggesting a lack of the neonatal Fc receptor, FcRn. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta(2)-microglobulin (beta(2)m) that binds two ligands, IgG and albumin, and extends the catabolic half-lives of both. Eight relatives of the siblings were moderately IgG-deficient. From sera archived for 35 years, we sequenced the two siblings' genes for the heterodimeric FcRn...
March 28, 2006: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/16202780/complications-associated-with-symptomatic-diagnosis-in-infants-with-cystic-fibrosis
#17
COMPARATIVE STUDY
Frank J Accurso, Marci K Sontag, Jeffrey S Wagener
OBJECTIVE: To determine the complication and hospitalization rates in children with cystic fibrosis (CF) by mode of diagnosis. STUDY DESIGN: Newly diagnosed cases of CF were identified from the Cystic Fibrosis Foundation National Patient Registry for 2000 through 2002. Cases were categorized as symptomatic diagnosis (SYMP; n = 1760), prenatal diagnosis (PRE; n = 66), diagnosis by means of newborn screening (NBS; n = 256), or presentation with meconium ileus (MI; n = 484)...
September 2005: Journal of Pediatrics
https://www.readbyqxmd.com/read/16199199/metabolic-derangements-in-deficiency-of-citrin-a-liver-type-mitochondrial-aspartate-glutamate-carrier
#18
Takeyori Saheki, Keiko Kobayashi, Mikio Iijima, Mitsuaki Moriyama, Masahide Yazaki, Yo-Ichi Takei, Shu-Ichi Ikeda
Citrin, encoded by SLC25A13, is a liver-type mitochondrial aspartate-glutamate carrier (AGC), of which deficiency, in autosomal recessive trait, causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). NICCD patients have jaundice, hypoproteinemia, hypoglycemia, galactosemia, growth retardation, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine. Some of the neonates who have experienced NICCD suffer from severe CTLN2 more than 10 years or several decades later...
October 2005: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/15542392/clinical-heterogeneity-of-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency-case-reports-from-16-patients
#19
COMPARATIVE STUDY
Yusaku Tazawa, Keiko Kobayashi, Daiki Abukawa, Ikuo Nagata, Shunichi Maisawa, Ryo Sumazaki, Toshiyuki Iizuka, Yoshito Hosoda, Manabu Okamoto, Jun Murakami, Shunsaku Kaji, Ayako Tabata, Yao Bang Lu, Osamu Sakamoto, Akira Matsui, Susumu Kanzaki, Goro Takada, Takeyori Saheki, Kazuie Iinuma, Toshihiro Ohura
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia...
November 2004: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/15133273/anemia-with-chronic-renal-disorder-and-disrupted-metabolism-of-erythropoietin-in-icr-derived-glomerulonephritis-icgn-mice
#20
COMPARATIVE STUDY
Misuzu Yamaguchi-Yamada, Noboru Manabe, Kozue Uchio-Yamada, Naotsugu Akashi, Yasufumi Goto, Youhei Miyamoto, Masaya Nagao, Yoshie Yamamoto, Atsuo Ogura, Hajime Miyamoto
The ICR-derived glomerulonephritis (ICGN) mouse, a new inbred mouse strain with a hereditary nephrotic syndrome, is considered to be a good model of human idiopathic nephrotic syndrome and notably exhibits proteinuria and hypoproteinemia from the neonatal stage. In chronic renal disorder (CRD), anemia is a major subsequent symptom (renal anemia). The precise cause of renal anemia remains unclear, primarily owing to the lack of appropriate spontaneous animal models for CRD. To establish adequate animal models for anemia with CRD, we examined the hematological-biochemical properties and histopathological characteristics...
April 2004: Journal of Veterinary Medical Science
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