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Neonatal Hemosiderosis

Carlo Caffarelli, Francesca Santamaria, Silvia Cesari, Elisa Sciorio, Carlotta Povesi-Dascola, Sergio Bernasconi
Major advances in the conduct of pediatric practice have been reported in the Italian Journal of Pediatrics in 2014. This review highlights developments in allergy, gastroenterology, infectious diseases, neonatology, nutrition, oncology and respiratory tract illnesses. Investigations endorse a need to better educate guardians and improve nutritional management in food allergy. Management of hyperbilirubinemia in neonates and of bronchiolitis have been improved by position statements of scientific societies...
2015: Italian Journal of Pediatrics
L Cruz, R E Schnur, E M Post, H Bodagala, R Ahmed, C Smith, L B Lulis, G E Stahl, A Kushnir
Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis. Most reported cases have been associated with homozygous or compound heterozygous mutations in the RFX6 gene, a transcriptional regulatory factor for pancreatic morphogenesis. Given the limited number of reported cases, the syndrome may be under-recognized. When the particular phenotype of MFS includes a mutation on the RFX6 gene and neonatal diabetes, it has been called Mitchell-Riley syndrome...
December 2014: Journal of Perinatology: Official Journal of the California Perinatal Association
Boris Limme, Ramona Nicolescu, Jean-Paul Misson
Idiopathic pulmonary hemosiderosis (IPH) is a rare complex entity characterized clinically by acute or recurrent episodes of hemoptysis secondary to diffuse alveolar hemorrhage. The radiographic features are variable, including diffuse alveolar-type infiltrates, and interstitial reticular and micronodular patterns. We describe a 3-week-old infant presenting with hemoptysis and moderate respiratory distress. Idiopathic pulmonary hemosiderosis was the first working diagnosis at the Emergency Department and was confirmed, 2 weeks later, by histological studies (bronchoalveolar lavage)...
2014: Case Reports in Pediatrics
Kathleen Ostrom, Raveen Syan, LaToya Barber, Deana Miller, Narayanan Venkatasubramani, Anjani Ravindra, Pooja Jhaveri, Punit Jhaveri, Chandran Alexander, Margot R Nagan, Marissa Hauptman, Amit Grover, Scott E Hadland
No abstract text is available yet for this article.
September 2014: Pediatrics in Review
Jay Kerecman, Anupamjit Mehrotra, Zachary Goodman
BACKGROUND AND OBJECTIVES: Cholestasis affects 50% of extremely low-birth-weight infants. Its etiology remains poorly understood and the extent of liver injury in these infants is unclear. The premature baboon model provides an opportunity to study neonatal liver disease. We characterize hepatic histopathologic changes in this model. METHODS: Archival tissue and data were obtained from the Southwest Foundation for Biomedical Research Primate Center, San Antonio, TX...
August 2013: Journal of Pediatric Gastroenterology and Nutrition
Elliott P Vichinsky
α-Thalassemia mutations affect up to 5% of the world's population. The clinical spectrum ranges from an asymptomatic condition to a fatal in utero disease. Hemoglobin H disease results from mutations of three α-globin genes. Deletional forms result in a relatively mild anemia, whereas nondeletional mutations result in a moderate to severe disease characterized by ineffective erythropoiesis, recurrent transfusions, and growth delay. Hemosiderosis develops secondary to increased iron absorption, as well as transfusion burden...
May 2013: Cold Spring Harbor Perspectives in Medicine
Mohammed Al-Owain, Dilek Colak, Albandary Albakheet, Banan Al-Younes, Zainab Al-Humaidi, Moeen Al-Sayed, Hindi Al-Hindi, Abdulaziz Al-Sugair, Ahmed Al-Muhaideb, Zuhair Rahbeeni, Abdullah Al-Sehli, Fatima Al-Fadhli, Pinar T Ozand, Robert W Taylor, Namik Kaya
Our study describes a novel phenotype in a series of nine Saudi patients with lactic acidosis, from four consanguineous families three of which are related. Detailed genetic studies including linkage, homozygosity mapping and targeted sequencing identified a causative mutation in the BCS1L gene. All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes of Björnstad syndrome, GRACILE syndrome and a syndrome of neonatal tubulopathy, encephalopathy, and liver failure (MIM 606104) leading to isolated mitochondrial respiratory chain complex III deficiency...
September 2013: Journal of Inherited Metabolic Disease
Sohsuke Yamada, Takamitsu Marutani, Masanori Hisaoka, Takashi Tasaki, Atsunori Nabeshima, Mika Shiraishi, Yasuyuki Sasaguri
A male infant born prematurely at 31 weeks of gestation weighed 789 g and had mildly brown-colored oral/tracheal aspirates at delivery. The amniotic fluid was also discolored, and its index was below 5. The patient died of hypoxemic respiratory and cardiac failure 2 hours after birth. The maternal profiles showed placenta previa and intrauterine growth restriction (IUGR) at 22 weeks of gestation, and revealed recurrent episodes of antenatal and substantial vaginal bleeding and oligohydramnios, indicating chronic abruption-oligohydramnios sequence...
August 2012: Pathology International
Angeles Fernandez-Gonzalez, S Alex Mitsialis, Xianlan Liu, Stella Kourembanas
Bronchopulmonary dysplasia (BPD) is characterized by simplified alveolarization and arrested vascular development of the lung with associated evidence of endothelial dysfunction, inflammation, increased oxidative damage, and iron deposition. Heme oxygenase-1 (HO-1) has been reported to be protective in the pathogenesis of diseases of inflammatory and oxidative etiology. Because HO-1 is involved in the response to oxidative stress produced by hyperoxia and is critical for cellular heme and iron homeostasis, it could play a protective role in BPD...
April 15, 2012: American Journal of Physiology. Lung Cellular and Molecular Physiology
Per Levéen, Heike Kotarsky, Matthias Mörgelin, Riitta Karikoski, Eskil Elmér, Vineta Fellman
UNLABELLED: Mitochondrial dysfunction is an important cause for neonatal liver disease. Disruption of genes encoding oxidative phosphorylation (OXPHOS) components usually causes embryonic lethality, and thus few disease models are available. We developed a mouse model for GRACILE syndrome, a neonatal mitochondrial disease with liver and kidney involvement, caused by a homozygous BCS1L mutation (232A>G). This gene encodes a chaperone required for incorporation of Rieske iron-sulfur protein (RISP) into complex III of respiratory chain...
February 2011: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
J R Elfenbein, S Giguère, S K Meyer, L H Javsicas, L L Farina, D N Zimmel, L C Sanchez
BACKGROUND: Hepatic failure is one of the more common complications in foals requiring blood transfusion to treat neonatal isoerythrolysis. Iron intoxication is likely the cause of hepatic injury. OBJECTIVES: To determine the effects of deferoxamine on iron elimination in normal foals. ANIMALS: Thirteen neonatal foals. METHODS: Randomized-controlled trial. At 1-3 days of age, foals received either 3 L of washed packed dam's red blood cells (RBC) or 3 L of saline IV once...
November 2010: Journal of Veterinary Internal Medicine
Marie Cassart, Freddy Efraim Avni, Laurent Guibaud, Marc Molho, Nicky D'Haene, Alain Paupe
OBJECTIVE: To assess the potential role of MR imaging in the diagnosis of fetal liver iron overload. METHODS: We reviewed seven cases of abnormal liver signal in fetuses referred to MR imaging in a context of suspected congenital infection (n = 2), digestive tract anomalies (n = 3) and hydrops fetalis (n = 2). The average GA of the fetuses was 31 weeks. The antenatal diagnoses were compared with histological data (n = 6) and postnatal work-up (n = 1). RESULTS: Magnetic resonance imaging demonstrated unexpected abnormal fetal liver signal suggestive of iron overload in all cases...
February 2011: European Radiology
Elliott Vichinsky
Alpha thalassemia, the most common genetic disorder of hemoglobin synthesis, affects up to 5% of the world's population. It represents a group of conditions with reduced or absent synthesis of one to all four of alpha globin genes. Deletional or nondeletional mutations occur on chromosome 16. Its severity ranges from asymptomatic to fatal in utero. Hemoglobin H disease, a mutation of three alpha globin genes, is more severe than previously recognized. Anemia, hypersplenism, hemosiderosis, growth failure, and osteoporosis are commonly noted as the patient ages...
August 2010: Annals of the New York Academy of Sciences
Erin Neil, Josef Cortez, Aparna Joshi, Erawati V Bawle, Janet Poulik, Mark Zilberman, Mohammad F El-Baba, Beena G Sood
Liver failure in neonates is a rare but often fatal disease. Trisomy 21 is not usually associated with significant infantile liver disease. If present, hepatic dysfunction in an infant with Trisomy 21 is likely to be attributed to transient myeloproliferative disorder with hepatic infiltration by hematopoietic elements and may be associated with secondary hemosiderosis. A less commonly recognized cause of liver failure in neonates with Trisomy 21 is neonatal hemochromatosis (NH); this association has been reported in nine cases of Trisomy 21 in literature...
2010: Italian Journal of Pediatrics
T Y Khong, T J Toering, J J H M Erwich
AIMS: To ascertain the incidence and to review the obstetric and neonatal correlates of placental haemosiderosis. Secondly, to determine if placental haemosiderosis is due to blood contamination during placental handling. METHODS: One hundred consecutive singleton placentas with and 113 consecutive singleton placentas from uncomplicated pregnancies without an indication for pathological examination were stained for iron to detect haemosiderosis in the membranes, chorionic plate and/or basal plate...
February 2010: Pathology
Maryam Monajemzadeh, Hedieh Moradi Tabriz, Fatemeh Mahjoub, Gholamhossein Fallahi, Fatemeh Farahmand
UNLABELLED: We aimed at determining the pattern of liver disease in the Iranian children referred to the Medical Center of Children affiliated with the Tehran University of Medical Sciences. MATERIALS AND METHODS: In a cross-sectional study conducted over 2 years, 425 liver needle biopsies were sent to the pathology laboratory of our center. Slides were prepared from paraffin-embedded blocks, stained by routine H & E and special stains and were then reviewed. The frequency of each disorder, separately and in combination with the age group or gender of the patients was calculated and compared with other similar studies...
January 2009: Indian Journal of Pathology & Microbiology
(no author information available yet)
No abstract text is available yet for this article.
June 9, 2008: U.S. News & World Report
King Chong Chan, Morris Edelman, John E Fantasia
Neonatal hemochromatosis (NH) is a severe disease of fetal or perinatal onset, in which iron deposition occurs within hepatic and extrahepatic sites without involving the reticuloendothelial system. Labial minor salivary gland biopsy has been suggested as a diagnostic adjunct in patients suspected of having NH, as hemosiderin accumulates in acinar epithelial cells. Prior to this salivary gland pathology, a diagnosis of NH was often delayed, rendered only after the usual causes of neonatal liver failure had been excluded...
July 2008: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
Shiro Yoshida, Akihiko Kikuchi, Sorahiro Sunagawa, Kimiyo Takagi, Yoshifumi Ogiso, Tatsuya Yoda, Tomohiko Nakamura
AIM: To clarify the clinical features of pregnancy and neonatal respiratory problems associated with diffuse chorioamniotic hemosiderosis (DCH). METHODS: Sixteen singleton cases of DCH without chorioamnionitis (CAM) were retrospectively analyzed and compared with gestation- and birthweight-matched controls (32 cases of CAM and 32 cases of non-DCH-non-CAM). Maternal symptoms and respiratory problems of the infants were investigated. RESULTS: All 16 cases with DCH resulted in preterm delivery from 23 to 35 weeks' gestation...
December 2007: Journal of Obstetrics and Gynaecology Research
Roy G Soto, Margarida M Soares
Idiopathic pulmonary hemosiderosis is a rare disorder that results in significant anemia and pulmonary compromise. The case of a patient with new onset of disease diagnosed during labor is presented, and after urgent cesarean delivery, both the neonate and the mother survived. The anesthetic implications of a parturient with idiopathic pulmonary hemosiderosis, including monitoring, preoperative evaluation, and perioperative care, are discussed.
September 2005: Journal of Clinical Anesthesia
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