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Sample records for failure neonatal hemochromatosis

  1. A Rare Cause of Neonatal Liver Failure: Neonatal Hemochromatosis

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    Uluca Ü et al.

    2013-09-01

    Full Text Available Neonatal hemochromatosis (NH is a severe rare liver disease in neonatal period associated with ekstrahepatic siderosis. This disease is characterized by hepatocellular insufficiency that presented with jaundice, hypoglycemia, hypoalbuminemia, low fibrinogen levels, thrombocytopenia, anemia, direct and indirect hyperbilirubinemia from the first days of life. Herein we reported a case with Rh incompatibility whose jaundice was noted at the first day of life and referred to our hospital for exchange transfusion, but thereafter diagnosed as NH and reviewed the literature in the view point of the latest developments related to the topic.

  2. Reversible retinal edema in an infant with neonatal hemochromatosis and liver failure.

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    Maldonado, Ramiro S; Freedman, Sharon F; Cotten, C Michael; Ferranti, Jeffrey M; Toth, Cynthia A

    2011-02-01

    We present a case of bilateral severe retinal edema with subretinal fluid in an infant diagnosed with neonatal hemochromatosis and liver failure. A macular cherry-red spot in each eye mimicked the clinical appearance of many metabolic storage diseases. Both the clinical retinal appearance and the anatomic abnormalities observed on spectral domain optical coherence tomography resolved after successful liver transplant.

  3. Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21 - a case report

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    Poulik Janet

    2010-05-01

    Full Text Available Abstract 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. NH is a rare, severe liver disease of intra-uterine onset that is characterized by neonatal liver failure and hepatic and extrahepatic iron accumulation that spares the reticuloendothelial system. NH is the most frequently recognized cause of liver failure in neonates and the commonest indication for neonatal liver transplantation. Although porto-pulmonary hypertension (PPH has been reported as a complication of liver failure in adults and older children, this has not been reported in neonates with liver failure of any etiology. This is probably due to the rarity of liver failure in newborns, delayed diagnosis and high mortality. The importance of recognizing PPH is that it is reversible with liver transplantation but at the same time increases the risk of post-operative mortality. Therefore, early diagnosis of PPH is critical so that early intervention can improve the chances of successful liver transplantation. We report for the first time the association of liver failure with porto-pulmonary hypertension secondary to NH in an infant with Trisomy 21.

  4. [Neonatal hemochromatosis: Another entity that is no longer orphan. Advances in the diagnosis and management of the main cause of neonatal acute liver failure].

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    Molera Busoms, C; Quintero Bernabeu, J; Martín de Carpi, J

    2015-09-01

    Neonatal hemochromatosis is the most common cause of acute liver failure in the neonatal period. It is associated with high morbidity and mortality due to iron overload in hepatic and extra-hepatic tissues. New evidence has emerged during the last few years as regards its alloimmune etiology, which have had an important repercussion on the diagnosis, treatment and prognosis of these patients. Treatment with immunoglobulins and exchange transfusions has radically changed the prognosis without liver transplant. Another great success has been the preventive use of immunoglobulin in pregnant women with a past history of neonatal hemochromatosis, thus decreasing the rate of disease recurrence up to 70%. This new paradigm has led to an entity with a poor prognosis becoming a curable disease if diagnosed and treated early. Nevertheless, a large widespread ignorance of the disease persists, with medical implications that result in significant health problems, due to the delayed referral of these patients to specialized centers. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  5. Is exchange transfusion a possible treatment for neonatal hemochromatosis?

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    Timpani, Giuseppina; Foti, Francesca; Nicolò, Antonino; Nicotina, Pier Antonio; Nicastro, Emanuele; Iorio, Raffaele

    2007-11-01

    Neonatal hemochromatosis is a rare congenital disorder of the liver associated to a poor prognosis. Liver transplantation is often required, since no effective medical treatment has been found. Despite mounting evidence of an alloimmune etiology of this condition, exchange transfusion has never been proposed as a specific treatment for neonatal hemochromatosis. Here we describe two siblings affected by neonatal hemochromatosis. The first, a female, died at 18 days of severe coagulopathy and acute renal failure, diagnosed as affected by neonatal hemochromatosis only when the second sibling was suspected as being affected by the same disease. The second child showed a rapidly worsening coagulopathy which was treated with two exchange transfusions, followed by rapid clinical and laboratory improvement, before reaching a definite diagnosis of neonatal hemochromatosis. He is healthy at present after a follow-up of 12 months. Although exchange transfusion has never been considered as treatment for neonatal hemochromatosis, this case suggests that it could be a feasible treatment option for children affected by this disease, as for other alloimmune conditions.

  6. Prenatal diagnosis of neonatal hemochromatosis: it is possible?

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    Helena Isabel Lopes

    2015-06-01

    Full Text Available Introduction: Neonatal Hemochromatosis is a rare liver disease of intrauterine onset, defined by neonatal liver failure associated with extrahepatic siderosis. Gestational alloimmune liver disease has been established as the cause of fetal liver injury. At present, there is no effective approach to prenatal diagnosis. Case Report: A 23-year-old pregnant woman presented at 32 weeks of gestation with oligohydramnios and hyperechogenic liver focus on ultrasound. The premature newborn developed multisystem organ failure and died at the second day of life despite aggressive support care. The autopsy allowed the diagnosis of Neonatal Hemochromatosis. Conclusion: The ultrasound identification of hyperechogenic nodular focus on fetal liver may be suggestive of Neonatal Hemochromatosis. Further investigations are needed to identify the specific alloimmune complex in maternal blood. Establishment of the diagnosis in an affected fetus or newborn may have a major impact for the prognosis of disease and for the outcome of future pregnancies.

  7. Hemochromatosis

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    Onur Albayrak

    2009-08-01

    Full Text Available Hemochromatosis is the most common form of iron overload disease. Iron builds up in the body’s organs and damages them. Hemochromatosis is presented with arthropathy, cirrhosis of the liver, melanoderma, heart failure, diabetes mellitus and other endocrine deficiencies. There are two type of this disease. Primary hemochromatosis is known as an inherited disease. Herediter hemochromatosis is caused by the mutations of HFE gene. The most common mutations are H63D (Histidine- Aspartat and C282Y (Cysteine-Tyrosine on the gene. Secondary hemochromatosis is caused by anemia, alcoholism, and some of the other disorders. [Archives Medical Review Journal 2009; 18(4.000: 268-275

  8. Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls

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    Tsai, Andy; Paltiel, Harriet J.; Sena, Laureen M. [Children' s Hospital Boston and Harvard Medical School, Department of Radiology, Boston, MA (United States); Kim, Heung Bae; Fishman, Steven J. [Children' s Hospital Boston and Harvard Medical School, Department of Surgery, Boston, MA (United States); Alomari, Ahmad I. [Children' s Hospital Boston and Harvard Medical School, Department of Radiology, Boston, MA (United States); Children' s Hospital Boston, Division of Vascular and Interventional Radiology, Boston, MA (United States)

    2009-08-15

    Neonatal hemochromatosis is a rare metabolic disorder characterized by excessive iron deposition within the liver leading to hepatic failure and portal hypertension. We describe the clinical course and imaging findings in three infants with neonatal hemochromatosis associated with patent ductus venosus. We paid special attention to the diagnostic challenges encountered in these patients in order to emphasize some of the potential diagnostic pitfalls. We conducted a comprehensive search of our radiology database of the last 10 years (1999-2008) for the keywords ''neonatal hemochromatosis.'' Medical records and imaging studies of various modalities were reviewed. Three neonates were found to have neonatal hemochromatosis; all of them were associated with patent ductus venosus. Two of these patients were referred to our tertiary center for embolization of an inaccurately diagnosed hepatic vascular malformation. Two patients underwent successful liver transplantation and one died shortly after referral. The awareness and inclusion of neonatal hemochromatosis in the differential diagnosis of newborns with liver failure and patent ductus venosus has critical treatment implications. (orig.)

  9. Hemochromatosis

    Science.gov (United States)

    ... general Mediterranean population from Tarragona, Spain. Annals of Hematology. 2010;89(8):767–773. 4. Whitington PF, ... www. cdc. gov/ ncbddd/hemochromatosis/training/pdf/ hemochromatosis_course.pdf. Updated September 23, 2010. Accessed December 19, ...

  10. Hemochromatosis

    Science.gov (United States)

    ... Liver Disease & NASH Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Biliary Atresia Cirrhosis Hemochromatosis Hepatitis A through E (Viral Hepatitis) Hepatitis ...

  11. Diagnosis of neonatal hemochromatosis with MR imaging and duplex Doppler sonography

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    Oddone, M.; Toma, P. [Dept. of Radiology, G. Gaslini Children' s Research Hospital, Genoa (Italy); Bellini, C.; Bonacci, W.; Bartocci, M.; Serra, G. [Department of Pediatrics, Neonatal Intensive Care Unit, University of Genoa, G. Gaslini Children' s Research Hospital, Largo G. Gaslini, 5, I-16147 Genoa (Italy)

    1999-07-01

    Neonatal hemochromatosis is a rare congenital disorder which affects both fetuses and newborns. It is characterized by hepatocellular failure, often appearing on the first day of life in the form of coagulopathy, hypoalbuminemia, hypoglycemia, and jaundice. Most of the affected infants die early in life, and definitive diagnosis has often been made only by post-mortem evaluation. With the help of MRI, plus increasing awareness of the disorder, diagnosis is now often made early, even in utero. Duplex Doppler sonography does not provide information on siderosis but shows abnormalities in the liver or blood-flow patterns associated with liver disease. (orig.)

  12. [Hemochromatosis].

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    Oppl, B; Zwerina, J

    2015-09-01

    Hereditary hemochromatosis is a frequent autosomal recessive iron storage disease in northern and western Europe. The classical clinical triad of liver cirrhosis, hyperpigmentation and diabetes is nowadays rare, most probably because of early recognition. The homozygous C282Y mutation in the HFE gene is responsible for most cases of hereditary hemochromatosis, although other much rarer mutations in other genes have been recently identified. Progressive iron overload not only causes liver cirrhosis but also triggers development of a characteristic arthropathy. Bony swelling with intermittent arthritis of the second and third metacarpophalangeal joints is typical as well as occurrence of chondrocalcinosis in wrists and knee joints. The therapy of choice is excess iron removal by phlebotomy. Treatment usually prevents or even reverses liver damage but does not alter the course of hemochromatosis arthropathy.

  13. Hemochromatosis

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    ... A Life After Diagnosis Support for Chronic Illness Corporate Partnerships Interview with Kristen Hanks Liver Lowdown July ... including an enlarged liver, cirrhosis, cancer, and liver failure damage to the pancreas, possibly causing diabetes heart ...

  14. Hemochromatosis

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    ... Who Is At Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Anemia Arrhythmia Blood Transfusion Heart Failure Thalassemias Send a link to NHLBI to someone by ...

  15. HEMOCHROMATOSIS

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    Frijo jose

    2011-11-01

    Full Text Available 36 year old male with no history of blood transfusion in the past, presented with features of left heart failure and presyncope. He had sparse facial, axillary and pubic hair, hyperpigmentation of skin, palms, palate and history of impotence.

  16. Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis

    DEFF Research Database (Denmark)

    Møller, Daniel Vega; Pecini, Redi; Gustafsson, Finn;

    2010-01-01

    It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the p......It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role...

  17. Liver transplantation for neonatal hemochromatosis: analysis of the UNOS database.

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    Sheflin-Findling, Shari; Annunziato, Rachel A; Chu, Jaime; Arvelakis, Antonios; Mahon, Danielle; Arnon, Ronen

    2015-03-01

    NH is the most common identifiable cause of ALF in the neonate. LT is the definitive treatment for neonates with NH who have failed medical therapy. Our aim was to determine the outcomes of LT in infants with NH. Patients (less than one yr of age) with NH who were listed for LT and patients who underwent LT between 1994 and 2013 were identified from the UNOS database for analysis. Risk factors for death and graft loss were analyzed by multivariate logistic regression. Thirty-eight infants with NH with a total of 43 transplants were identified. One- and five-yr patient and graft survival were 84.2%, 81.6%, 71.1%, and 68.4%, respectively. The outcomes for NH were not significantly different when compared to the same age-matched recipients with other causes of ALF. There were no statistically significant risk factors identified for graft loss or death. Ninety infants with NH were listed for LT. Reasons for removal included transplanted (49%), death (27%), too sick to transplant (7%), and improved status (13%). LT for infants with NH has a high rate of graft loss and death; however, outcomes are comparable to the same age-matched recipients with other causes of ALF.

  18. Hereditary Hemochromatosis (HFE genotypes in heart failure: Relation to etiology and prognosis

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    Torp-Pedersen Christian

    2010-07-01

    Full Text Available Abstract Background It is believed that hereditary hemochromatosis (HH might play a role in cardiac disease (heart failure (HF and ischemia. Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic significance of HFE genotypes. Methods We studied 667 HF patients (72.7% men with depressed systolic function, enrolled in a multicentre trial with a follow-up period of up to 5 years. All were genotyped for the known HFE variants C282Y, H63D and S65C. Results The genotype and allele frequencies in the HF group were similar to the frequencies determined in the general Danish population. In multivariable analysis mortality was not predicted by C282Y-carrier status (HR 1.2, 95% CI: 0.8-1.7; H63D-carrier status (HR 1.0, 95% CI: 0.7-1.3; nor S65C-carrier status (HR 1.2, 95% CI: 0.7-2.0. We identified 27 (4.1% homozygous or compound heterozygous carriers of HFE variants. None of these carriers had a clinical presentation suggesting hemochromatosis, but hemoglobin and ferritin levels were higher than in the rest of the cohort. Furthermore, a trend towards reduced mortality was seen in this group in univariate analyses (HR 0.4, 95% CI: 0.2-0.9, p = 0.03, but not in multivariate (HR 0.5, 95% CI: 0.2-1.2. Conclusion HFE genotypes do not seem to be a significant contributor to the etiology of heart failure in Denmark. HFE variants do not affect mortality in HF.

  19. Acute Renal Failure in the Neonate.

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    Khan, Owais A; Hageman, Joseph R; Clardy, Christopher

    2015-10-01

    Acute renal failure (ARF) in a neonate is a serious condition that impacts 8% to 24% of hospitalized neonates. There is a need for prompt evaluation and treatment to avoid additional complications. In this review, a neonate was found to have renal failure associated with renal vein thrombosis. There are varying etiologies of ARF. Causes of ARF are typically divided into three subsets: pre-renal, renal or intrinsic, and post-renal. Treatment of ARF varies based on the cause. Renal vein thrombosis is an interesting cause of renal or intrinsic ARF and can be serious, often leading to a need for dialysis.

  20. Maternal drugs and neonatal renal failure

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    M Sahay

    2014-01-01

    Full Text Available Maternal use of drugs during pregnancy may cause irreversible renal failure in the newborn. This report highlights the adverse effect of telmisartan during the last trimester of pregnancy. The neonate presented with oliguric renal failure and the renal histology showed proximal tubular dysgenesis.

  1. Acute renal failure in premature neonates

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    Doronjski Aleksandra

    2009-01-01

    Full Text Available Background/Aim. Hemodynamic stress is the leading cause of acute renal failure (ARF in premature neonates. Incidence of ARF in this population is between 8 and 24%. The aim of this study was to determine the frequency of presence of ARF in premature neonates, as well as its impact on their survival. Methods. A retrospective study of 114 premature neonates [(gestational age, GA less than 37 gestation weeks (gw] admitted to the Intensive Care Unit (ICU at the Pediatric Clinic, Institute of Child and Youth Healthcare of Vojvodina in 2007 was conducted. Serum creatinine, urea and bilirubine were determined on the 3rd day of life in 65 newborns who met inclusion criteria. ARF was diagnosed in 16 newborns (n=16/65; 25%. Results. The premature neonates with ARF had significantly lower GA [<28 gw - 8/16 (50% vs. 5/49 (10%; p < 0.05], birth weight (BW (1 265 g vs. 1615 g; p < 0.05 and systolic blood pressure (43.37 mm Hg vs. 52.7 mmHg; p < 0.05 than ones without ARF. Non-olyguric ARF was diagnosed in 62% of newborns with ARF (n=10/16, while the rest had the olyguric type (n = 6/16; 38%. Twenty-five percent of premature neonates with ARF (n = 4/16 died in contrast to 10% of premature neonates without ARF (n = 5/49. ARF was treated conservatively in all but 3 cases when peritoneal dialysis was performed. Renal function has recovered completely in all of the survivors. In order to determine their predictivity in relation to ARF, following parameters were analyzed: GA, BW < 1 500 g, presence of concomitant sepsis and intracranial hemorrhage grade III/IV. BW < 1 500 g demonstrated the highest sensitivity (se 0.75, while GA < 28 gw, sepsis and intracranial hemorrhage grade III/IV showed high specificity (sp = 0.90, 0.89 0.88, respectively. Conclusion. Acute renal failure frequently occurs in population of premature neonates and requires meticulous fluid and electrolyte balance, especially in the case of low birth weight and extreme immaturity.

  2. Acute renal failure: Nephrosonographic findings in asphyxiated neonates

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    Mohd. Ashraf

    2011-01-01

    Full Text Available To determine the incidence of acute renal failure (ARF and nephrosonographic findings among asphyxiated neonates, and to correlate this with uric acid levels and the severity of hypoxic encephalopathy, we studied 80 full-term appropriate-for-date singleton neonates with perinatal asphyxia, and 30 healthy full-term neonates as controls from March 2006 to February 2007. A detailed history, thorough clinical examination along with investigations, including urine examination, 24-h urine collection, ultrasonography of abdomen and cranium, serum electrolytes, blood urea nitrogen, serum creatinine, and serum uric acid were obtained. ARF developed in 45% (36/80 of the asphyxiated neonates. Forty-eight (60% neonates showed significant elevation of blood urea and 41 (51.3% neonates had significant elevation of serum creatinine than the control group (P < 0.001. Sixty-two (77.5% neonates developed significant elevation of serum uric acid levels, and nephrosonography revealed hyperechogenicity in all of them, while only two among the healthy neonates showed the raised uric acid levels (P < 0.001. Nonoliguric renal failure was seen 28/36 (77.8% of the neonates with ARF, whereas eight (22.2% neonates had oliguric renal failure. Eight (27.8% patients among ARF patients maintained abnormal biochemical parameters after 2 weeks, and of whom four patients died after variable lengths of time with a mortality rate of 11.11%. Kidneys are the most common organs involved in perinatal asphyxia, and uric acid might be a causative factor for failure in addition to hypoxic insult. Routine use of kidney function test, along with abdominal ultrasonography form an important screening tool to detect any additional morbidity in these patients.

  3. Non-HFE hemochromatosis

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    Santos, Paulo Caleb Júnior de Lima; Dinardo, Carla Luana; Cançado, Rodolfo Delfini; Schettert, Isolmar Tadeu; Krieger, José Eduardo; Pereira, Alexandre Costa

    2012-01-01

    Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV, type 2Ajuvenile HH), hepcidin (HAMP, type 2B juvenile HH), transferrin receptor 2 (TFR2, type 3 HH) and ferroportin (SLC40A1, type 4 HH). The aim of this review is to explore molecular, clinical and management aspects of non-HFE hemochromatosis. PMID:23049448

  4. Non-HFE hemochromatosis

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    Paulo Caleb Júnior de Lima Santos

    2012-01-01

    Full Text Available Hereditary hemochromatosis (HH is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV, type 2Ajuvenile HH, hepcidin (HAMP, type 2B juvenile HH, transferrin receptor 2 (TFR2, type 3 HH and ferroportin (SLC40A1, type 4 HH. The aim of this review is to explore molecular, clinical and management aspects of non-HFE hemochromatosis.

  5. Diabetes in HFE Hemochromatosis

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    James C. Barton

    2017-01-01

    Full Text Available Diabetes in whites of European descent with hemochromatosis was first attributed to pancreatic siderosis. Later observations revealed that the pathogenesis of diabetes in HFE hemochromatosis is multifactorial and its clinical manifestations are heterogeneous. Increased type 2 diabetes risk in HFE hemochromatosis is associated with one or more factors, including abnormal iron homeostasis and iron overload, decreased insulin secretion, cirrhosis, diabetes in first-degree relatives, increased body mass index, insulin resistance, and metabolic syndrome. In p.C282Y homozygotes, serum ferritin, usually elevated at hemochromatosis diagnosis, largely reflects body iron stores but not diabetes risk. In persons with diabetes type 2 without hemochromatosis diagnoses, serum ferritin levels are higher than those of persons without diabetes, but most values are within the reference range. Phlebotomy therapy to achieve iron depletion does not improve diabetes control in all persons with HFE hemochromatosis. The prevalence of type 2 diabetes diagnosed today in whites of European descent with and without HFE hemochromatosis is similar. Routine iron phenotyping or HFE genotyping of patients with type 2 diabetes is not recommended. Herein, we review diabetes in HFE hemochromatosis and the role of iron in diabetes pathogenesis in whites of European descent with and without HFE hemochromatosis.

  6. Failure to thrive, hyponatremia, and hyperkalemia in a neonate.

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    Sopfe, Jenna; Simmons, Jill H

    2013-05-01

    CME EDUCATIONAL OBJECTIVES: 1.Describe the varying clinical presentations of pseudohypoaldosteronism in the neonatal period.2.Review the physiology of aldosterone production and pathophysiology of pseudohypoaldosteronism.3.Identify treatment options for pseudohypoaldosteronism when identified in the neonatal period. Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance caused by defects in sodium transport in the distal tubule of the kidney. It presents in the neonate with life-threatening dehydration due to salt wasting, accompanied by hyperkalemia, acidosis, and, frequently, failure to thrive. Patients with PHA1 are often initially diagnosed with congenital adrenal hyperplasia, but their electrolyte abnormalities are resistant to treatment with glucocorticoids and mineralocorticoids. In these patients, an astute clinician will broaden his or her differential, resulting in life-saving treatment.

  7. Learning about Hereditary Hemochromatosis

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    ... and Its Implications Meeting A 1997 ELSI Report Learning About Hereditary Hemochromatosis What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. Iron Overload ...

  8. Heart and heart-liver transplantation in patients with hemochromatosis.

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    Robinson, Monique R; Al-Kindi, Sadeer G; Oliveira, Guilherme H

    2017-10-01

    Hemochromatosis predisposes to dilated or restrictive cardiomyopathy which can progress to end-stage heart failure, requiring the use of advanced heart therapies including heart (HT) and heart liver (HLT) transplantation. Little is known about the characteristics and outcomes of these patients. We queried the United Network for Organ Sharing (UNOS) registry for all patients listed for HT or HLT for a diagnosis of 'hemochromatosis' between 1987 and 2014. Waitlist and post-transplantation outcomes were compared between patients with hemochromatosis (HT vs HLT) and other etiologies. Of the 81,356 adults listed for heart transplantation, 23 patients with hemochromatosis were identified (16 listed for HLT; and 7 listed for HT). Compared with other etiologies, HC patients were younger (39 vs 51years, p<0.0001), and more likely to need inotropes (56.5% vs 25.6%, p=0.003) and mechanical ventilation (13% vs 3.4%, p=0.041). Cumulative hazards of waitlist mortality or delisting were higher in hemochromatosis patients than for other etiologies of heart failure (p<0.001). There were 4 HT and 4 HLT during the study period. Post-transplantation, patients with HC had a 1- and 2-year cumulative survival of 88% and 75%, respectively. Both HT and HLT are viable options for patients with hemochromatosis. Patients with hemochromatosis are younger with increased wait-list mortality compared with other etiologies. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Molecular basis of HFE-hemochromatosis

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    Maja eVujic Spasic

    2014-03-01

    Full Text Available Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH. The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-hemochromatosis as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorption from the diet and iron deposition in tissues causing multiple organ damage and failure. This review focuses on the molecular actions of the HFE/Hfe and hepcidin in maintaining systemic iron homeostasis and approaches undertaken so far to combat iron overload in HFE/Hfe-HH. In the light of the recent investigations, novel roles of extra-hepatocytic Hfe are discussed raising a question to the relevance of the multipurpose functions of Hfe for the understanding of HH associated pathologies.

  10. Neonate With Severe Heart Failure Related to Vein of Galen Malformation

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    Meng-Yu Chen

    2010-08-01

    Full Text Available We report a full-term female neonate who presented with respiratory distress and severe heart failure soon after birth. Heart failure secondary to perinatal infection was initially suspected. Subsequent echocardiography revealed aortic runoff, which led to consideration of an intracranial vascular abnormality. Ultrasound and magnetic resonance imaging of the brain confirmed a diagnosis of vein of Galen aneurismal malformation (VGAM. Endovascular coil embolization of the vascular anomaly was performed, resulting in improvement of heart failure. VGAM should be considered in the differential diagnosis of neonatal congestive heart failure with a structurally normal heart. Urgent endovascular embolization and aggressive medical treatment of heart failure improve prognosis in neonatal VGAM.

  11. HFE-associated hereditary hemochromatosis

    NARCIS (Netherlands)

    Eijkelkamp, EJ; Yapp, TR; Powell, LW

    2000-01-01

    Hereditary hemochromatosis is a common inherited disorder of the iron metabolism Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis

  12. The Microcirculation Is Unchanged in Neonates with Severe Respiratory Failure after the Initiation of ECMO Treatment

    NARCIS (Netherlands)

    A.P.C. Top (Anke); E.A.B. Buijs (Erik ); M. van Dijk (Monique); D. Tibboel (Dick); C. Ince (Can)

    2012-01-01

    textabstractPurpose. Venoarterial extracorporeal membrane oxygenation (VA-ECMO) is known to improve cardiorespiratory function and outcome in neonates with severe respiratory failure. We tested the hypothesis that VA-ECMO therapy improves the microcircu- lation in neonates with severe respiratory fa

  13. [Morbidity and mortality of acute renal failure in neonatal period (author's transl)].

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    Simón, J; Mendizábal, S; Zamora, I; Roques, V; Orive, B

    1979-04-01

    A retrospective study of 35 newborn with acute renal failure is presented. The main causes of renal failure were neonatal hypoxia by asfixia or hemorrhagic shock (eight), congenital malformations (two) and hypertonic dehydration (25). Mortality rate was 22% including two neonates with severe congenital malformations. Sepsis was considered as the main complicating factor and often as inducer of renal failure. It was present on 55% of cases and on 75% of the deceased newborn. Cerebral injury was frequent but a follow-up study is necessary to establish the rate of neurologic sequelae. Early diagnosis and treatment of renal failure will decrease complications with improvement in prognosis. Etiological analysis of neonatal renal failure shows the need of a better health education of people and also medical control of pregnancy and perinatal period.

  14. Effects of tolvaptan on congestive heart failure complicated with chylothorax in a neonate.

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    Sato, Nikiko; Sugiura, Tokio; Nagasaki, Rika; Suzuki, Kazutaka; Ito, Koichi; Kato, Takenori; Inukai, Sachiko; Saitoh, Shinji

    2015-10-01

    Tolvaptan is an oral vasopressin type 2 receptor antagonist that can be used for heart failure patients with hyponatremia or symptomatic congestion. Although the effects of tolvaptan in adults have been well documented, only limited information is available in children. The case of a neonate with congestive heart failure complicated with chylothorax after palliative surgery for transposition of the great arteries treated with tolvaptan is reported. Slow up-titration to 0.1 mg/kg successfully increased urine output and improved refractory congestive heart failure without hypernatremia. Subsequently, bodyweight and chylothorax decreased gradually. Moreover, the use of tolvaptan reduced the dosage of furosemide. Tolvaptan could be an alternative drug for neonates with congestive heart failure. Further large studies are needed to confirm the efficacy and identify the appropriate dose of tolvaptan in neonates.

  15. Prediction of extubation failure for neonates with respiratory distress syndrome using the MIMIC-II Clinical Database

    NARCIS (Netherlands)

    Mikhno, A.; Ennett, C.M.

    2012-01-01

    Extubation failure (EF) is an ongoing problem in the neonatal intensive care unit (NICU). Nearly 25% of neonates fail their first extubation attempt, requiring re-intubations that are associated with riskfactors and financial costs. We identified 179 mechanically ventilated neonatal patients that we

  16. Diagnosis and management of hereditary hemochromatosis.

    Science.gov (United States)

    Salgia, Reena J; Brown, Kimberly

    2015-02-01

    Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. Hemochromatosis is associated with iron overload, and can initially be recognized through laboratory testing for serum ferritin and transferrin saturation. Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease. The main pathway resulting in iron overload is through altered hepcidin levels. Treatment of patients with the clinical phenotype of hereditary hemochromatosis is commonly through phlebotomy for removal of excess iron stores. This article highlights the current information and data regarding the diagnosis and management of hemochromatosis.

  17. [Cilioretinal artery occlusion in hemochromatosis].

    Science.gov (United States)

    Peral, M J; Reche, A; Crespo, M J; Carpio, R; Gutierrez, O; Espino, A; Toledano, N

    2015-05-01

    We report a case of a 31 year-old woman with a sudden visual loss due to a cilioretinal artery occlusion. The physical examinination showed hepatomegaly. Serum iron and ferritin and transferrin saturation were unusually high. The doppler scan of carotid arteries showed no relevant signs of atheromatous disease. Dilated cardiomiopaty was revealed in the B-scan with subendocardial calcium deposits. Genetic tests were positive for hemochromatosis. Subendocardial calcification due to hemochromatosis could be the embolic source in our patient. This embolic ocular disease is the first presentation of hemochromatosis in this patient. Copyright © 2012 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  18. Successful Treatment of Corticosteroid with Antiviral Therapy for a Neonatal Liver Failure with Disseminated Herpes Simplex Virus Infection

    OpenAIRE

    Shinji Maeba; Shunji Hasegawa; Maiko Shimomura; Takuya Ichimura; Kazumasa Takahashi; Masashi Motoyama; Shinnosuke Fukunaga; Yoshinori Ito; Takashi Ichiyama; Shouichi Ohga

    2015-01-01

    Background - Herpes simplex virus (HSV) infection carries one of the poorest outcomes of neonatal liver failure (NLF). Neonates with disseminated HSV infection can develop hemophagocytic lymphohistiocytosis (HLH), and occasionally need orthotopic liver transplantation. Early interventions may be critical for the cure of NLF. Case Report - We describe herewith a 6-day-old neonate with fulminant hepatic failure due to disseminated HSV-1 infection, who successfully responded to high-dose cor...

  19. Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency.

    Science.gov (United States)

    Olivier, François; Wieckowska, Anna; Piedboeuf, Bruno; Alvarez, Fernando

    2015-11-01

    Unexpected severe cholestasis is part of the presentation in some neonates with hemolytic anemia but is usually self-resolving. Here we report the case of a neonate with pyruvate kinase deficiency (PKD) who presented severe hemolytic anemia at birth, characterized by a rapidly progressive and severe cholestasis with normal γ-glutamyl transpeptidase level associated with hepatic failure. After an extensive investigation to rule out contributing conditions explaining the severity of this patient's clinical presentation, PKD has remained the sole identified etiology. The patient abruptly died of sepsis at 3 months of age before a planned splenectomy and ongoing evaluation for liver transplantation. To the best of our knowledge, only a few similar cases of severe neonatal presentation of PKD complicated with severe hepatic failure and cholestasis have been reported.

  20. Severe acute haemorrhagic liver failure in a neonate with a favourable spontaneous outcome

    Energy Technology Data Exchange (ETDEWEB)

    Cavet, Madeleine; Balu, Marie; Garel, Catherine; Ducou le Pointe, Hubert [Universite Pierre et Marie Curie Paris VI, Service de Radiologie, Hopital d' enfants Armand-Trousseau, Paris (France); Mitanchez, Delphine; Alexandre, Marie [Universite Pierre et Marie Curie Paris VI, Service de Neonatologie, Hopital d' enfants Armand-Trousseau, Paris (France); Renolleau, Sylvain [Universite Pierre et Marie Curie Paris VI, Service de Reanimation, Hopital d' enfants Armand-Trousseau, Paris (France); Pariente, Daniele [Hopital de Bicetre, Service de Radiologie Pediatrique, Paris (France)

    2008-10-15

    Acute liver failure in neonates is rare and is frequently associated with an unfavourable outcome. There is no curative treatment other than liver transplantation. Screening for viral, metabolic, toxic or vascular disease is essential to assess the prognosis and to guide specific treatment. Hepatic haemorrhage in neonates is often associated with bacterial infection, trauma and coagulopathies. We present a unique case of neonatal acute liver failure and multifocal massive haemorrhagic intrahepatic lesions of traumatic origin, documented by US and MRI. The patient made a spontaneous recovery. Clinical, biological and imaging outcome was excellent despite the apparent severity of the initial features. The only possible aetiology was a difficult caesarean delivery for mild fetal macrosomia. (orig.)

  1. Urosepsis and postrenal acute renal failure in a neonate following circumcision with Plastibell device.

    Science.gov (United States)

    Kalyanaraman, Meena; McQueen, Derrick; Sykes, Joseph; Phatak, Tej; Malik, Farhaan; Raghava, Preethi S

    2015-04-01

    Plastibell is one of the three most common devices used for neonatal circumcision in the United States, with a complication rate as low as 1.8%. The Plastibell circumcision device is commonly used under local anesthesia for religious circumcision in male neonates, because of cosmetic reasons and ease of use. Occasionally, instead of falling off, the device may get buried under the skin along the shaft of the penis, thereby obstructing the normal flow of urine. Furthermore, the foreskin of neonates is highly vascularized, and hence, hemorrhage and infection are possible when the skin is cut. Necrosis of penile skin, followed by urethral obstruction and renal failure, is a serious surgical mishap requiring immediate corrective surgery and medical attention. We report a case of fulminant urosepsis, acute renal failure, and pyelonephritis in a 4-day-old male neonate secondary to impaction of a Plastibell circumcision device. Immediate medical management was initiated with fluid resuscitation and mechanical ventilation; thereby correcting life threatening complications. Pediatricians and Emergency Department physicians should be cognizant of the complications from Plastibell circumcision device in order to institute appropriate and timely management in neonates.

  2. The Microcirculation Is Unchanged in Neonates with Severe Respiratory Failure after the Initiation of ECMO Treatment

    Directory of Open Access Journals (Sweden)

    Anke P. C. Top

    2012-01-01

    Full Text Available Purpose. Venoarterial extracorporeal membrane oxygenation (VA-ECMO is known to improve cardiorespiratory function and outcome in neonates with severe respiratory failure. We tested the hypothesis that VA-ECMO therapy improves the microcirculation in neonates with severe respiratory failure. Methods. This single-center prospective observational pilot study took place in an intensive care unit of a level III university children’s hospital. Twenty-one-term neonates, who received VA-ECMO treatment, were included. The microcirculation was assessed in the buccal mucosa, using Orthogonal Polarization Spectral imaging, within 24 hours before (T1 and within the first 24 hours after initiation of ECMO treatment (T2. Data were compared to data of a ventilated control group (=7. Results. At baseline (T1, median functional capillary density (FCD, microvascular flow index (MFI, and heterogeneity index (HI did not differ between the ECMO group and the control group. At T2 the median FCD was lower in the control group (median [range]: 2.4 [1.4–4.2] versus 4.3 [2.8–7.4] cm/cm2; P value <0.001. For MFI and HI there were no differences at T2 between the two groups. Conclusion. The perfusion of the microcirculation does not change after initiation of VA-ECMO treatment in neonates with severe respiratory failure.

  3. The Myths and Realities of Hemochromatosis

    Directory of Open Access Journals (Sweden)

    Melanie D Beaton

    2007-01-01

    Full Text Available Hemochromatosis is a common genetic condition and yet there are still a number of misperceptions surrounding the diagnosis and management of this condition. Hemochromatosis affects both men and women. Typical patients do not have alcoholism or viral hepatitis, and often have normal liver enzymes. Clinical expression is highly variable. Genetic testing is widely available and particularly useful in family studies. Hemochromatosis can be readily diagnosed and treated. The purpose of the present review is to address the medical myths and misconceptions of hemochromatosis.

  4. How Is Hemochromatosis Treated?

    Science.gov (United States)

    ... Who Is At Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Anemia Arrhythmia Blood Transfusion Heart Failure Thalassemias Send a link to NHLBI to someone by ...

  5. Living with Hemochromatosis

    Science.gov (United States)

    ... Who Is At Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Anemia Arrhythmia Blood Transfusion Heart Failure Thalassemias Send a link to NHLBI to someone by ...

  6. What Causes Hemochromatosis?

    Science.gov (United States)

    ... Who Is At Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Anemia Arrhythmia Blood Transfusion Heart Failure Thalassemias Send a link to NHLBI to someone by ...

  7. Neonatal Diesel Exhaust Particulate Exposure Does Not Predispose Mice to Adult Cardiac Hypertrophy or Heart Failure.

    Science.gov (United States)

    Liu, Yonggang; Weldy, Chad S; Chin, Michael T

    2016-11-24

    Background: We have previously reported that in utero and early life exposure to diesel exhaust particulates predisposes mice to adult heart failure, and that in utero exposure alone is sufficient to confer this predisposition. This follow up study addresses whether neonatal exposure alone can also confer this predisposition. Methods: Newborn male C57BL/6 mice were exposed to diesel exhaust (DE) particulates immediately after birth until weaning at 21 days of age, whereupon they were transferred to filtered air (FA) conditions. At the age of 12 weeks, transverse aortic constriction (TAC) was performed followed by weekly echocardiography for three weeks. After the last echocardiogram, mice were euthanized for organ harvest, gravimetry and histology. Results: Neonatal exposure to DE particulates did not increase susceptibility to cardiac hypertrophy or heart failure after TAC when compared to FA exposed controls (ventricular weight/body weight ratio 7.505 vs. 7.517 mg/g, p = Not Significant (NS)). The left ventricular ejection fraction after TAC was similar between groups at one week, two weeks, and three weeks after procedure. Histological analysis showed no difference in the degree of cardiac hypertrophy or fibrosis. Conclusions: Neonatal exposure to DE particulates does not predispose mice to TAC-induced cardiac hypertrophy and heart failure in adulthood, in contrast to previously published results showing susceptibility due to in utero exposure.

  8. Is genetic screening for hemochromatosis worthwhile?

    NARCIS (Netherlands)

    Njajou, OT; Alizadeh, BZ; van Duijn, CM

    2004-01-01

    Hereditary hemochromatosis is an iron overload disorder and is the most common recessive disease in Caucasians. About 80% of hemochromatosis patients are homozygous for the C282Y mutation in the HFE gene. Since iron accumulation can be prevented by phlebotomy, there is increasing interest in screeni

  9. Hemochromatosis mutations in the general population

    DEFF Research Database (Denmark)

    Andersen, Rolf Vaern; Tybjaerg-Hansen, Anne; Appleyard, Merete

    2004-01-01

    The progression rate of iron overload in hereditary hemochromatosis in individuals in the general population is unknown. We therefore examined in the general population iron overload progression rate in C282Y homozygotes. Using a cohort study of the Danish general population, The Copenhagen City...... saturation and ferritin levels increased slightly in male and female C282Y homozygotes. None of the C282Y homozygotes developed clinically overt hemochromatosis. In conclusion, individuals in the general population with C282Y homozygosity at most demonstrate modest increases in transferrin saturation...... and ferritin levels, and clinically overt hemochromatosis is rare. Therefore, C282Y homozygotes identified during population screening, and not because of clinically overt hemochromatosis, at most need to be screened for manifestations of hemochromatosis every 10 to 20 years....

  10. Predictors of mortality in out born neonates with acute renal failure; an experience of a single center.

    Science.gov (United States)

    Kapoor, Kapil; Jajoo, Mamta; Dabas, Vikas

    2013-06-01

    To evaluate the incidence, etiology, outcome, and predictors of mortality in neonates with Acute Renal Failure (ARF) in an out born Neonatal Intensive Care Unit (NICU) of India. A retrospective analysis of case records of out born neonates, who had ARF at admission or developed ARF during NICU stay, from January to December 2011 (one year) was done. Out of the total 456 neonates admitted during the study period, 44 (9.6%) neonates with ARF (32 males, 12 females) were studied. Their mean gestational age, weight, and age at admission was 34.7±3.9 weeks, 2100±630 grams, and 2.1±6.3 respectively. Causes of ARF were pre-renal in 22 (50%), intrinsic renal failure in 16 (36.3%), and post-renal in six (13.6%). Oliguria was present in 29 neonates. Neonatal sepsis was the commonest cause of ARF, followed by perinatal asphyxia, respiratory distress syndrome, and genitourinary anomalies. ARF was present at admission in 37 neonates. The mortality rate was 15.9% (7/44). Thirty-seven (84%) were discharged with complete recovery of renal functions and followed for six months. Shock, oliguria, need for mechanical ventilation, and presence of disseminated intravascular coagulopathy (DIC) emerged as predictors of mortality in neonates with ARF. The incidence and mortality rate of neonatal ARF were 9.6% and 15.9% respectively in our out born NICU. Neonatal sepsis was the commonest cause of ARF followed by perinatal asphyxia. Shock, oliguria, need for mechanical ventilation, and presence of DIC were associated with poor outcome.

  11. Is neonatal head circumference related to caesarean section for failure to progress?

    Science.gov (United States)

    de Vries, Bradley; Bryce, Bianca; Zandanova, Tatiana; Ting, Jason; Kelly, Patrick; Phipps, Hala; Hyett, Jon A

    2016-12-01

    There is global concern about rising caesarean section rates. Identification of risk factors could lead to preventative measures. To describe the association between neonatal head circumference and (i) caesarean section for failure to progress, (ii) intrapartum caesarean section overall. This was a retrospective cohort study of 11 687 singleton live births with cephalic presentation, attempted vaginal birth and at least 37 completed weeks gestation from January 2005 to June 2009. Neonatal head circumference was grouped into quartiles and multiple logistic regressions performed. The rates of caesarean section for failure to progress were 4.1, 6.4, 8.8 and 14.3% in successive head circumference quartiles. Rates of intrapartum caesarean section overall were 8.7, 12.1, 15.8 and 21.5%. The odds ratios for caesarean section for failure to progress were: 1.00, 1.33 (95% CI 1.02- 1.73), 1.54 (1.18-2.02) and 1.93 (1.44-2.57) for successive head circumference quartiles after adjusting for multiple demographic and clinical factors. The adjusted odds ratios for intrapartum caesarean section for any indication were: 1.00, 1.52 (95% CI 1.24-1.87), 1.99 (1.62-2.46) and 2.38 (1.89-3.00), respectively. There is a strong positive relationship between head circumference quartile and both caesarean section for failure to progress and caesarean for any indication. If this finding is confirmed using ultrasound measurements, there is potential for head circumference to be incorporated into predictive models for intrapartum caesarean section with a view to offering interventions to reduce the risk of caesarean section. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  12. Placental Inflammatory Changes and Bacterial Infection in Premature Neonates with Respiratory Failure

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2012-01-01

    Full Text Available Objective: to reveal a relationship of placental inflammatory changes to bacterial infection in premature neonates with respiratory failure. Material and methods. Bronchoalveolar aspirate was bacteriologically studied in 157 premature neonates with respiratory distress syndrome (NRDS; the total and differential leukocyte counts were measured in their peripheral blood. The levels of the cytokines IL-1^3, IL-4, IL-6, and TNF-a were studied in different biological fluids of mothers and their babies; the placentas were also morphologically examined. Results. An analysis of bacterial cultures from the tracheobronchial tree revealed no growth of bacterial microflora in 61.8% of cases, Enterococcus faecalis and Staphylococcus epidermidis were isolated in 6.4 and 8.3% of the infants, respectively; Staphylococcus haemolyticus, Staphylococcus capitis, Enterobacter agglomerans, and hemolytic group A Streptococcus were seen in 1.9% each; moreover, 1.3% of the newborn infants were found to have Bacillus spp., Staphylococcus aureus, Escherichia coli, Acinetobacter spp., and Serratia marcescens. Other microorganisms and a microbial association were encountered in 8.9% of cases. Placental morphological examination revealed different inflammatory changes concurrent with chronic and acute placental insufficiency. The investigation demonstrated that the maternal peripheral plasma levels of IL-1^, IL-4, IL-6, and TNF-a were within the physiological range at the end of the first period of delivery. The amniotic fluid displayed elevated IL-6 and TNF-a concentrations and normal IL-4 and IL-1e levels, suggesting that there was an intrauterine inflammatory process. Conclusion. Premature birth is associated with various placental inflammatory changes, which causes intrauterine stimulation of macrophages in the chorionic villi. Specific immune defense mechanisms that prevent the development of a fetal infectious process, i.e. the maternal infectious process, may induce

  13. Acute liver failure in a term neonate after repeated paracetamol administration

    Directory of Open Access Journals (Sweden)

    Fabio Bucaretchi

    2014-03-01

    Full Text Available Objective: Severe hepatotoxicity caused by paracetamol is rare in neonates. We report a case of paracetamol-induced acute liver failure in a term neonate. Case description: A 26-day-old boy was admitted with intestinal bleeding, shock signs, slight liver enlargement, coagulopathy, metabolic acidosis (pH=7.21; bicarbonate: 7.1mEq/L, hypoglycemia (18mg/dL, increased serum aminotransferase activity (AST=4,039IU/L; ALT=1,087IU/L and hyperbilirubinemia (total: 9.57mg/dL; direct: 6.18mg/dL after receiving oral paracetamol (10mg/kg/dose every 4 hours for three consecutive days (total dose around 180mg/kg; serum concentration 36-48 hours after the last dose of 77µg/ mL. Apart from supportive measures, the patient was successfully treated with intravenous N-acetylcysteine infusion during 11 consecutive days, and was discharged on day 34. The follow-up revealed full recovery of clinical and of laboratory findings of hepatic function. Comments: The paracetamol pharmacokinetics and pharmacodynamics in neonates and infants differ substantially from those in older children and adults. Despite the reduced rates of metabolism by the P-450 CYP2E1 enzyme system and the increased ability to synthesize glutathione - which provides greater resistance after overdoses -, it is possible to produce hepatotoxic metabolites (N-acetyl-p-benzoquinone that cause hepatocellular damage, if glutathione sources are depleted. Paracetamol clearance is reduced and the half-life of elimination is prolonged. Therefore, a particular dosing regimen should be followed due to the toxicity risk of cumulative doses. This report highlights the risk for severe hepatotoxicity in neonates after paracetamol multiple doses for more than two to three days.

  14. Hemochromatosis Patients as Voluntary Blood Donors

    Directory of Open Access Journals (Sweden)

    Tara E Power

    2004-01-01

    Full Text Available The present study was designed to investigate hemochromatosis patients' suitability as blood donors as well as their perceptions and experience with the current public donation system. Participants were gathered from a list of current hemochromatosis patients (n=120 and members of the Canadian Hemochromatosis Society (n=1000. Of the 1120 surveys mailed out to these groups, 801 surveys were returned completed. The sample respondents had a mean age of 57.44 years (SD=12.73; range 19 to 87 years, and 57% were men. It was found that 20% (160 of the respondents have donated blood since their diagnosis; however, only 12% of the respondents indicated that they use voluntary blood donation as a means of maintaining their iron levels. Forty per cent of the respondents indicated that they had been refused from voluntary donation. Despite the fact that in May 2001 the Canadian Blood Services, in collaboration with the Canadian Hemochromatosis Society, began a promotion campaign to encourage hemochromatosis patients to become voluntary blood donors, the present study found that 15% of the respondents reported having been refused from the voluntary blood donation service due to the diagnosis of hemochromatosis. With respect to quality of life, it was found that individuals who donate blood were generally healthier with respect to physical functioning and bodily pain, however, these findings may indicate that hemochromatosis patients who are healthier are better able to donate at public blood banks, rather than that voluntary blood donation has an effect on the donors' physical functioning over phlebotomy clinic users. These study findings suggest that although there may be other medical factors limiting individuals from donating, hemochromatosis patients are interested in being voluntary blood donors and this potential resource is currently under-used.

  15. A Diagnostic Approach to Hemochromatosis

    Directory of Open Access Journals (Sweden)

    Anthony S Tavill

    2006-01-01

    Full Text Available In the present clinical review, a diagnostic approach to hemochromatosis is discussed from the perspective of two clinicians with extensive experience in this area. The introduction of genetic testing and large-scale population screening studies have broadened our understanding of the clinical expression of disease and the utility of biochemical iron tests for the detection of disease and for the assessment of disease severity. Liver biopsy has become more of a prognostic test than a diagnostic test. The authors offer a stepwise, diagnostic algorithm based on current evidence-based data, that they regard as most cost-effective. An early diagnosis can lead to phlebotomy therapy to prevent the development of cirrhosis.

  16. Endocrine dysfunction in hereditary hemochromatosis.

    Science.gov (United States)

    Pelusi, C; Gasparini, D I; Bianchi, N; Pasquali, R

    2016-08-01

    Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading and may be triggered by environmental and lifestyle factors. Despite the last decades discovery of genetic and phenotype diversity of HH, early studies showed a frequent involvement of the endocrine glands where diabetes and hypogonadism are the most common encountered endocrinopathies. The pathogenesis of diabetes is still relatively unclear, but the main mechanisms include the loss of insulin secretory capacity and insulin resistance secondary to liver damage. The presence of obesity and/or genetic predisposition may represent addictive risk factor for the development of this metabolic disease. Although old cases of primary gonad involvement are described, hypogonadism is mainly secondary to selective deposition of iron on the gonadotropin-producing cells of the pituitary gland, leading to hormonal impaired secretion. Cases of hypopituitarism or selected tropin defects, and abnormalities of adrenal, thyroid and parathyroid glands, even if rare, are reported. The prevalence of individual gland dysfunction varies enormously within studies for several bias due to small numbers of and selected cases analyzed, mixed genotypes and missing data on medical history. Moreover, in the last few years early screening and awareness of the disease among physicians have allowed hemochromatosis to be diagnosed in most cases at early stages when patients have no symptoms. Therefore, the clinical presentation of this disease has changed significantly and the recognized common complications are encountered less frequently. This review summarizes the current knowledge on HH-associated endocrinopathies.

  17. Eligibility and Exclusion of Hemochromatosis Patients as Voluntary Blood Donors

    Directory of Open Access Journals (Sweden)

    M Levstik

    1998-01-01

    Full Text Available BACKGROUND: Hereditary hemochromatosis patients are excluded in many countries as voluntary blood donors. In 1991, changes in the Canadian Red Cross policy allowed healthy hemochromatosis patients to become voluntary donors.

  18. Hemochromatosis

    Science.gov (United States)

    ... a result of: Other blood disorders, such as thalassemia or certain anemias . Too many blood transfusions over ... Read More Alcohol use disorder Diabetes Hepatomegaly Metabolism Thalassemia Review Date 3/16/2016 Updated by: Todd ...

  19. Clinical and pathological analysis of 20 cases of hemochromatosis

    Directory of Open Access Journals (Sweden)

    Li LIANG

    2011-01-01

    Full Text Available Objective To investigate the clinical and pathological characteristics of hemochromatosis(HC,and provide references for HC diagnosis and treatment.Methods Liver specimens were obtained via needle biopsy from 20 cases of HC.Histological specimens were stained with haematoxylin eosin.Pathological changes of liver tissues were analyzed together with the clinical data.Results Ten cases of hereditary hemochromatosis(HHC and 10 cases of secondary hemochromatosis(SHC were randomly selected.Fatigue(18/20,hepatomegalia(18/20 and splenomegalia(17/20were the common clinical manifestations.The 20 HC cases characterized by iron overload and fibrosis may be divided into HHC type(17 cases and non-HHC type(3 cases according to the region of iron deposition.All the 10 cases of HHC showed HHC type,while 7 of the 10 SHC cases showed HHC type,and the other 3 SHC cases showed non-HHC type.Steatosis,eosinophile granulocyte infiltration and vacuolus nucleus were also observed frequently in the liver tissues of HC,and their distribution coincided with the region of iron deposition.Statistically,fibrosis was significantly associated with iron deposition and serum iron in HHC patients(P < 0.05,but not associated with steatosis and duration of HHC.Additionally,fibrosis was not associated with iron deposition,serum iron,steatosis and duration of SHC in SHC patients.Conclusions The final diagnosis of HC depends mainly on histological changes in liver tissues.Meanwhile,it is necessary to distinguish HHC from SHC according to case history and biochemical detection.HHC might be a metabolic disease with multi-organ damage due to the disruption of homeostasis by iron overload.To avoid multi-organ failure,patients with HHC should be diagnosed and treated as early as possible.

  20. Neonatal Death and Heart Failure in Mouse with Transgenic HSP60 Expression

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    Tsung-Hsien Chen

    2015-01-01

    Full Text Available Mitochondrial heat shock proteins, such as HSP60, are chaperones responsible for the folding, transport, and quality control of mitochondrial matrix proteins and are essential for maintaining life. Both prosurvival and proapoptotic roles have been proposed for HSP60, and HSP60 is reportedly involved in the initiation of autoimmune, metabolic, and cardiovascular diseases. The role of HSP60 in pathogenesis of these diseases remains unclear, partly because of the lack of mouse models expressing HSP60. In this study we generated HSP60 conditional transgenic mice suitable for investigating in vivo outcomes by expressing HSP60 at the targeted organ in disease models. Ubiquitous HSP60 induction in the embryonic stage caused neonatal death in mice at postnatal day 1. A high incidence of atrial septal defects was observed in HSP60-expressing mice, with increased apoptosis and myocyte degeneration that possibly contributed to massive hemorrhage and sponge-like cardiac muscles. Our results showed that neonatal heart failure through HSP60 induction likely involves developmental defects and excessive apoptosis. The conditional HSP60 mouse model is useful for studying crucial biological questions concerning HSP60.

  1. Safety and Effectiveness of Bubble Continuous Positive Airway Pressure in Neonates With Respiratory Distress and Its Failure Factors

    Directory of Open Access Journals (Sweden)

    Ajay Sethi

    2015-09-01

    Conclusion: Bubble Continuous Positive Airway Pressure is safe, efficacious and easy to use in preterm and term neonates with mild to moderate respiratory distress. The major failure factors in our study were sepsis, recurrent apnea, and shock. The survival rate in our study was 60%. [Natl J Med Res 2015; 5(3.000: 202-206

  2. Whole Blood Polymerase Chain Reaction in a Neonate with Disseminated Herpes Simplex Virus Infection and Liver Failure

    Directory of Open Access Journals (Sweden)

    Jennifer A. Scoble

    2013-10-01

    Full Text Available A late preterm neonate born by cesarean section with intact membranes presented at 9 days of life with shock and liver failure. Surface cultures were negative but whole blood polymerase chain reaction was positive for herpes simplex virus type 2, underscoring the value of this test in early diagnosis of perinatally acquired disseminated herpes simplex virus infection without skin lesions.

  3. Evidence-based clinical practice guideline: inhaled nitric oxide for neonates with acute hypoxic respiratory failure.

    Science.gov (United States)

    DiBlasi, Robert M; Myers, Timothy R; Hess, Dean R

    2010-12-01

    Inhaled nitric oxide (INO) is a colorless, odorless gas that is also a potent pulmonary vasodilator. When given via the inhaled route it is a selective pulmonary vasodilator. INO is approved by the United States Food and Drug Administration (FDA) for the treatment of term and near-term neonates with hypoxemic respiratory failure associated with clinical or echocardiographic evidence of pulmonary arterial hypertension. A systematic review of the literature was conducted with the intention of making recommendations related to the clinical use of INO for its FDA-approved indication. Specifically, we wrote these evidence-based clinical practice guidelines to address the following questions: (1) What is the evidence for labeled use? (2) What are the specific indications for INO for neonates with acute hypoxemic respiratory failure? (3) Does the use of INO impact oxygenation, mortality, or utilization of extracorporeal membrane oxygenation (ECMO)? (4) Does INO affect long-term outcomes? (5) Is INO cost-effective therapy? (6) How is the appropriate dosing regimen and dose response to INO established? (7) How is the dose of INO titrated and weaned? (8) Which INO delivery system should be used? (9) How should INO be implemented with different respiratory support devices? (10) What adverse effects of INO should be monitored, and at what frequency? (11) What physiologic parameters should be monitored during INO? (12) Is scavenging of gases necessary to protect the caregivers? Using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) scoring system, 22 recommendations are developed for the use of INO in newborns.

  4. Hemochromatosis: the new blood donor.

    Science.gov (United States)

    Leitman, Susan F

    2013-01-01

    Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in the HFE gene is a common inherited iron overload disorder in whites of northern European descent. Hepcidin deficiency, the hallmark of the disorder, leads to dysregulated intestinal iron absorption and progressive iron deposition in the liver, heart, skin, endocrine glands, and joints. Survival is normal if organ damage is prevented by early institution of phlebotomy therapy. HH arthropathy is the symptom most affecting quality of life and can be debilitating. Genotype screening in large population studies has shown that the clinical penetrance of C282Y homozygosity is highly variable and can be very low, with up to 50% of women and 20% of men showing a silent phenotype. Targeted population screening for the HFE C282Y mutation is not recommended at present, but might be reconsidered as a cost-effective approach to management if counseling and care were better organized and standardized. Referral of patients to the blood center for phlebotomy therapy and use of HH donor blood for transfusion standardizes treatment, minimizes treatment costs, and may benefit society as a whole. Physician practices should be amended such that HH subjects are more frequently referred to the blood center for therapy.

  5. Population screening in hereditary hemochromatosis.

    Science.gov (United States)

    Motulsky, A G; Beutler, E

    2000-01-01

    Hemochromatosis is a common autosomal recessive condition found in the homozygous state in 1/200-1/400 people of northern-, central-, and western-European origin. It causes increased iron storage, which may lead to liver cirrhosis, liver cancer, heart disease, arthritis, and diabetes in many but not all affected adults, with a higher frequency in males. The condition is easily treated by repeated venesections without side effects but is frequently overlooked. Population screening of adults using iron indices alone or combined with DNA testing has therefore been recommended, but a consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs. There was also concern that DNA screening results might be used for discrimination in insurance and occupational settings. Screening family members of patients with evidence of definite iron loading, however, is accepted by all observers. Because serious complications may be overlooked, a more aggressive stance toward case detection in the adult population has been advocated by some observers, realizing that unnecessary treatment might occur. Because additional information regarding the spectrum of clinical disease in homozygotes in now accumulating, a consensus conference in the near future is suggested to consider appropriate policies.

  6. Is Serum Hepcidin Causative in Hemochromatosis? Novel Analysis from a Liver Transplant with Hemochromatosis

    Directory of Open Access Journals (Sweden)

    Paul C Adams

    2008-01-01

    Full Text Available BACKGROUND: Hepcidin is a circulating hepatic hormone that regulates iron balance. It has been speculated that hepcidin insufficiency or dysregulation may be the primary defect in genetic hemochromatosis.

  7. Treatment Failure of Nosocomial Pertussis Infection in a Very-Low-Birth-Weight Neonate

    Science.gov (United States)

    Bonacorsi, Stéphane; Farnoux, Caroline; Bidet, Philippe; Caro, Valérie; Aizenfisz, Sophie; Benhayoun, Mounir; Aujard, Yannick; Guiso, Nicole; Bingen, Edouard

    2006-01-01

    We describe a case of nosocomial maternal transmission of Bordetella pertussis to a very-low-birth-weight (VLBW) neonate in whom treatment was unsuccessful. This case underscores the need for rapid and sensitive PCR diagnosis in VLBW neonates and in parents with clinical signs of pertussis and suggests that standard treatment may not be appropriate for VLBW neonates. PMID:17021121

  8. Non-coding keratin variants associate with liver fibrosis progression in patients with hemochromatosis.

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    Pavel Strnad

    Full Text Available BACKGROUND: Keratins 8 and 18 (K8/K18 are intermediate filament proteins that protect the liver from various forms of injury. Exonic K8/K18 variants associate with adverse outcome in acute liver failure and with liver fibrosis progression in patients with chronic hepatitis C infection or primary biliary cirrhosis. Given the association of K8/K18 variants with end-stage liver disease and progression in several chronic liver disorders, we studied the importance of keratin variants in patients with hemochromatosis. METHODS: The entire K8/K18 exonic regions were analyzed in 162 hemochromatosis patients carrying homozygous C282Y HFE (hemochromatosis gene mutations. 234 liver-healthy subjects were used as controls. Exonic regions were PCR-amplified and analyzed using denaturing high-performance liquid chromatography and DNA sequencing. Previously-generated transgenic mice overexpressing K8 G62C were studied for their susceptibility to iron overload. Susceptibility to iron toxicity of primary hepatocytes that express K8 wild-type and G62C was also assessed. RESULTS: We identified amino-acid-altering keratin heterozygous variants in 10 of 162 hemochromatosis patients (6.2% and non-coding heterozygous variants in 6 additional patients (3.7%. Two novel K8 variants (Q169E/R275W were found. K8 R341H was the most common amino-acid altering variant (4 patients, and exclusively associated with an intronic KRT8 IVS7+10delC deletion. Intronic, but not amino-acid-altering variants associated with the development of liver fibrosis. In mice, or ex vivo, the K8 G62C variant did not affect iron-accumulation in response to iron-rich diet or the extent of iron-induced hepatocellular injury. CONCLUSION: In patients with hemochromatosis, intronic but not exonic K8/K18 variants associate with liver fibrosis development.

  9. A genetic epidemiologic study of hemochromatosis

    NARCIS (Netherlands)

    O.T. Njajou (Omer)

    2002-01-01

    textabstractThe goal of genetic epidemiology is to study the genetic etiology of diseases. There were t\\vo main aims for the present thesis. The first aim was to study the effects of the hemochromatosis gene (HFE) mutations on serum iron levels and disease associated conditions. Secondly, we aimed a

  10. Dietary advice in HFE-hemochromatosis

    NARCIS (Netherlands)

    Doorn, van G.M.; Gosselink, I.M.G.

    2012-01-01

    This report aims to provide dietary advice which is based on what is known so far about the effect of a diet, particularly on iron overload in HFE-hemochromatosis. The reason that the recommendations in principle apply only to the group of individuals with HFE-gene mutations and are focused on the m

  11. Acute Renal Failure in the Neonatal Period in the Eastern Anatolia Region

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    Mehmet MUTLU

    2012-09-01

    Full Text Available OBJECTIVE: To evaluate the clinical and laboratory characteristics of acute kidney injury (AKI in newborns followed up in our neonatal intensive care unit (NICU. MATERIAL and METHODS: This prospective study was performed in 59 newborns referred to our NICU through the completion of previously prepared forms. The Mann-Whitney U test and Student t-test were used for statistical analysis. Ethical committee approval was obtained for the study. RESULTS: Eight hundred eighteen newborns were followed up in our NICU during the study period, 59 of whom (7.2% were diagnosed as AKI. In terms of type of renal failure, 80% of the cases had prerenal AKI, 17% had renal AKI and 3% had postrenal AKI. Eighty-three percent of cases with prerenal AKI had dehydration secondary to breast-feeding malnutrition. Thirty percent of cases with renal AKI had prolonged prerenal AKI. The clinical course of AKI was oliguric/unuric in 43 cases. Mortality rate was 1.7%. CONCLUSION: These results show that the most important cause of AKI in our region is inadequate breast-feeding. We think that this problem can be signifi cantly reduced by mothers receiving adequate training regarding breast-feeding and its importance during pregnancy and after delivery, and that babies should be discharged once the physician is sure that they are breast-fed adequately by their mothers.

  12. Epidemiology and diagnostic testing for hemochromatosis and iron overload.

    Science.gov (United States)

    Adams, P C

    2015-05-01

    Hemochromatosis is the most common genetic disease in northern European populations. Body iron stores progressively increase in most patients, which can lead to cirrhosis of the liver, hepatocellular carcinoma, heart failure, arthritis, and pigmentation. Simple blood tests such as the serum ferritin and transferrin saturation are useful to suggest the diagnosis which can be confirmed in most cases with a simple genetic test for the C282Y mutation of the HFE gene. However, these blood tests are often misinterpreted and there are rare patients with iron overload without HFE mutations. A diagnostic approach is presented based on a large referral practice and a population-based study (HEIRS) which screened for iron overload in 101,168 participants.

  13. Plesiomonas shigelloides Septic Shock Leading to Death of Postsplenectomy Patient with Pyruvate Kinase Deficiency and Hemochromatosis

    Science.gov (United States)

    2016-01-01

    Although Plesiomonas shigelloides, a water-borne bacterium of the Enterobacteriaceae family, usually causes self-limiting gastroenteritis with diarrhea, several cases of sepsis have been reported. We report the case of a 43-year-old male patient with hemochromatosis, pyruvate kinase deficiency, and asplenia via splenectomy who developed septic shock caused by P. shigelloides complicated by respiratory failure, renal failure, liver failure, and disseminated intravascular coagulation. Early aggressive antimicrobial therapy and resuscitation measures were unsuccessful and the patient passed away. We kindly suggest clinicians to implement early diagnosis of septic shock, empirical coverage with antibiotics, and prompt volume resuscitation based on the high mortality rate of P. shigelloides bacteremia. PMID:27610253

  14. Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).

    Science.gov (United States)

    Bardou-Jacquet, Edouard; Brissot, Pierre

    2014-08-01

    The management and understanding of hereditary hemochromatosis have evolved with recent advances in iron biology and the associated discovery of numerous genes involved in iron metabolism. HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity. Rare forms of hereditary hemochromatosis include type 2 (A and B, juvenile hemochromatosis caused by HJV and HAMP mutation), type 3 (related to TFR2 mutation), and type 4 (A and B, ferroportin disease). The diagnostic evaluation relies on comprehension of the involved pathophysiologic defect, and careful characterization of the phenotype, which gives clues to guide appropriate genetic testing.

  15. Successful Treatment of Corticosteroid with Antiviral Therapy for a Neonatal Liver Failure with Disseminated Herpes Simplex Virus Infection.

    Science.gov (United States)

    Maeba, Shinji; Hasegawa, Shunji; Shimomura, Maiko; Ichimura, Takuya; Takahashi, Kazumasa; Motoyama, Masashi; Fukunaga, Shinnosuke; Ito, Yoshinori; Ichiyama, Takashi; Ohga, Shouichi

    2015-10-01

    Background Herpes simplex virus (HSV) infection carries one of the poorest outcomes of neonatal liver failure (NLF). Neonates with disseminated HSV infection can develop hemophagocytic lymphohistiocytosis (HLH), and occasionally need orthotopic liver transplantation. Early interventions may be critical for the cure of NLF. Case Report We describe herewith a 6-day-old neonate with fulminant hepatic failure due to disseminated HSV-1 infection, who successfully responded to high-dose corticosteroid therapy 72 hours after the onset of disease. Preceding acyclovir, gamma globulin, and exchange blood transfusion therapies failed to control the disease. Methylprednisolone pulse therapy led to a drastic improvement of liver function and cytokine storms, and prevented the disease progression to HLH. Sustained levels of plasma and cerebrospinal fluid HSV DNA declined after prolonged acyclovir therapy. Bilateral lesions of the periventricular white matter areas, assessed by magnetic resonance imaging, disappeared at 3 months of age. The infant showed normal growth and development at 4 years of age. Conclusion Early anti-hypercytokinemia therapy using corticosteroid, and prolonged antiviral therapy might only provide the transplantation-free cure of NLF with HSV dissemination.

  16. Successful Treatment of Corticosteroid with Antiviral Therapy for a Neonatal Liver Failure with Disseminated Herpes Simplex Virus Infection

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    Shinji Maeba

    2015-10-01

    Full Text Available Background - Herpes simplex virus (HSV infection carries one of the poorest outcomes of neonatal liver failure (NLF. Neonates with disseminated HSV infection can develop hemophagocytic lymphohistiocytosis (HLH, and occasionally need orthotopic liver transplantation. Early interventions may be critical for the cure of NLF. Case Report - We describe herewith a 6-day-old neonate with fulminant hepatic failure due to disseminated HSV-1 infection, who successfully responded to high-dose corticosteroid therapy 72 hours after the onset of disease. Preceding acyclovir, gamma globulin, and exchange blood transfusion therapies failed to control the disease. Methylprednisolone pulse therapy led to a drastic improvement of liver function and cytokine storms, and prevented the disease progression to HLH. Sustained levels of plasma and cerebrospinal fluid HSV DNA declined after prolonged acyclovir therapy. Bilateral lesions of the periventricular white matter areas, assessed by magnetic resonance imaging, disappeared at 3 months of age. The infant showed normal growth and development at 4 years of age. Conclusion - Early anti-hypercytokinemia therapy using corticosteroid, and prolonged antiviral therapy might only provide the transplantation-free cure of NLF with HSV dissemination.

  17. Genetics of iron storage and hemochromatosis.

    Science.gov (United States)

    Beutler, E; Felitti, V; Gelbart, T; Ho, N

    2001-04-01

    The regulation of total body iron is important to all organisms. In mammals, the iron content of the body is controlled almost entirely through regulation of absorption. The precise mechanism by which iron is absorbed and the manner in which the absorption is regulated is unknown, but a number of different proteins that are involved either in the transport process itself or its regulation have been identified. These include HFE, a class 1 HLA molecule involved in hereditary hemochromatosis, the divalent metal transporter (DMT-1), hephaestin, the transferrin receptor, and mobilferrin. Iron overload occurs in a number of hereditary disorders including atransferrinemia, aceruloplasminemia, X-linked hereditary sideroblastic anemia, thalassemia major, congenital dyserythropoietic anemia, and various red cell enzyme deficiencies. In Europeans, most cases of hereditary hemochromatosis are due to mutations of the HFE gene. There are two major mutations of this gene c.845G-->A (C282Y) and c.187C-->G (H63D). These mutations have extraordinarily high prevalence in northern Europe and approximately five in a thousand Europeans are homozygous for the 845A mutation. The penetrance of even the homozygous state for the 845A mutation is very low and that for the compound heterozygote 845A/187G, which is also associated with hemochromatosis, is even lower. The reason for the markedly variable penetrance that exists in this disorder remains unknown.

  18. Hypoparathyroidism and Subclinical Hypothyroidism with Secondary Hemochromatosis

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    Hyung Ki Jeong

    2014-03-01

    Full Text Available Hemochromatosis is an inherited genetic disorder of iron metabolism which can also occur as a secondary result of iron-overload. It leads to organ damage such as cardiomyopathy, liver cirrhosis, hypogonadism, and diabetes. This paper discusses a case of secondary hemochromatosis associated with repeated transfusions, presenting as asymptomatic hypoparathyroidism and subclinical hypothyroidism with multiple organ involvement. The 29-year-old female, who had severe aplastic anemia, received multiple transfusions totaling approximately 1,400 units of red blood cells over 15 years. During her routine laboratory examination, hypocalcemia was detected with decreased intact parathyroid hormone and increased thyroid stimulating hormone. Serum ferritin, iron, and total iron binding capacity had increased to 27,583.03 ng/mL, 291 µg/dL, and 389 µg/dL, respectively. She had unusually bronze skin and computed tomography revealed iron deposition in the thyroid, liver, and heart. Multiorgan involvement as seen in this case is rare in hemochromatosis associated with secondary transfusions. To the best of the author's knowledge, this is the first case report in Korea of hypoparathyroidism and subclinical hypothyroidism due to iron deposition in the parathyroid and thyroid gland.

  19. Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.

    Science.gov (United States)

    Bardou-Jacquet, Edouard; Ben Ali, Zeineb; Beaumont-Epinette, Marie-Pascale; Loreal, Olivier; Jouanolle, Anne-Marie; Brissot, Pierre

    2014-04-01

    Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new types of hemochromatosis. To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease). The diagnosis relies on the comprehension of the involved physiological defect that can now be explored by biological and imaging tools, which allow non-invasive assessment of iron metabolism. A multidisciplinary approach is essential to support the physicians in the diagnosis and management of those rare diseases.

  20. Triagem auditiva neonatal: ocorrência de falhas, perdas auditivas e indicadores de riscos Neonatal Hearing Screening: failures, hearing loss and risk indicators

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    Raquel Mari Onoda

    2011-12-01

    Full Text Available Verificar o índice de falha, de perda auditiva e sua associação com variáveis demográficas e indicadores de risco para deficiência auditiva em recém-nascidos submetidos ao Programa de Triagem Auditiva Neonatal em um hospital secundário. MATERIAL E MÉTODO: Estudo transversal e retrospectivo com 1570 neonatos submetidos às várias etapas do Programa de Triagem Auditiva Neonatal. Inicialmente, foram realizados testes de emissões otoacústicas (ILO Echocheck e pesquisa do Reflexo Cócleo-palpebral. Depois, foram analisadas características demográficas e clínicas dos neonatos, índice de falha na triagem, ocorrência de perda auditiva e sua associação com variáveis demográficas e indicadores de risco. RESULTADOS: Apresentaram falha nas primeiras etapas do Programa 26 (1,7% neonatos, que foram encaminhados para avaliação diagnóstica. Destes, 16 (61,5% não compareceram, dois (7,7% apresentaram resultados normais e oito (30,8% tiveram diagnóstico de alteração auditiva. O índice de falha na triagem foi 1,7% e a frequência de alterações auditivas 0,5%. CONCLUSÕES: Os neonatos pré-termo de muito baixo peso apresentaram maiores índices de falha na triagem e maior ocorrência de alterações auditivas. Os fatores associados à falha na triagem e às alterações auditivas foram semelhantes aos descritos na literatura.To check the rate of failure, hearing loss and its association with demographic variables and risk indicators for hearing loss in newborns submitted to the Newborn Hearing Screening in a secondary hospital. MATERIALS AND METHODS: Cross-sectional and retrospective study, involving 1,570 newborns submitted to the different stages of the Newborn Hearing Screening Program. Initially, we carried out otoacoustic emission tests (ILO Echocheck and the cochlear-eyelid reflex. Afterwards, we analyzed the demographic and clinical characteristics of the newborns, screening rate of failure, hearing loss and its association

  1. Magnetic resonance imaging of hemochromatosis arthropathy

    Energy Technology Data Exchange (ETDEWEB)

    Eustace, S. [Dept. of Radiology, Deaconess Hospital and Harvard Medical School, Boston, MA (United States); Buff, B. [Dept. of Radiology, Deaconess Hospital and Harvard Medical School, Boston, MA (United States); McCarthy, C. [The Inst. of Radiological Sciences, Mater Hospital, Dublin (Ireland); MacMathuana, P. [The Inst. of Radiological Sciences, Mater Hospital, Dublin (Ireland); Gilligan, P. [The Inst. of Radiological Sciences, Mater Hospital, Dublin (Ireland); Ennis, J.T. [The Inst. of Radiological Sciences, Mater Hospital, Dublin (Ireland)

    1994-10-01

    This study was undertaken to compare plain film radiography and magnetic resonance imaging in the assessment of hemochromatosis arthropathy of the knees of ten patients with a biopsy-proven diagnosis. Both modalities enabled visualisation of bony degenerative changes; magnetic resonance imaging enabled additional visualization of deformity of both cartilage and menisci. Magnetic resonance imaging failed reliably to confirm the presence of intra-articular iron in the patients studied. No correlation was observed between synovial fluid magnetic resonance signal values, corresponding serum ferritin levels, or the severity of the observed degenerative changes. (orig.)

  2. Occult celiac disease prevents penetrance of hemochromatosis

    Institute of Scientific and Technical Information of China (English)

    Andreas Geier; Siegfried Matern; Carsten Gartung; Igor Theurl; Guenter Weiss; Frank Lammert; Christoph G. Dietrich; Ralf Weiskirchen; Heinz Zoller; Benita Hermanns

    2005-01-01

    AIM: To report a patient with C282Y homozygocity, depleted body iron and intestinal atrophy caused by celiac disease (CD) who experienced resolution of the enteropathy with subsequent normalization of iron metabolism upon glutenfree diet.METHODS: To obtain information on the tissue distribution and quantitative expression of proteins involved in duodenal iron trafficking, we determined the expression of divalent-metal transporter 1 (DMT1), ferroportin 1 (FP1) and transferrin receptor (TfR1) by means of immunohistochemistry and real-time PCR in duodenal biopsies of this patient.RESULTS: Whereas in hereditary hemochromatosis patients without CD, DMT1 expression was up-regulated leading to excessive uptake of iron, we identified a significant reduction in protein and mRNA expression of DMT1 as acompensatory mechanism in this patient with HH and CD.CONCLUSION: Occult CD may compensate tot increased DMT1 expression in a specific subset of individuals withhomozygous C282Y mutations in the hemochromatosis(HFE) gene, thus contributing to the low penetrance of HH.

  3. Protective role of calreticulin in HFE hemochromatosis.

    Science.gov (United States)

    Pinto, Jorge P; Ramos, Pedro; de Almeida, Sérgio F; Oliveira, Susana; Breda, Laura; Michalak, Marek; Porto, Graça; Rivella, Stefano; de Sousa, Maria

    2008-01-01

    HFE gene mutations are associated with over 80% of cases of hereditary hemochromatosis (HH), an iron-overload disease in which the liver is the most frequently affected organ. Research on HFE has traditionally focused on its interaction with the transferrin receptor. More recent studies have suggested a more complex function for this nonclassical MHC-I protein. The aim of this study was to examine how HFE and its two most common mutations affect the expression of selected genes in a hepatocyte-like cell line. Gene expression was analyzed in HepG2 cells overexpressing wild-type and mutant HFE. The effect of HFE in iron import and oxidative stress levels was assessed. Unfolded protein response (UPR)-activated gene expression was analyzed in peripheral blood mononuclear cells from characterized HH patients. C282Y HFE down-regulated hepcidin and enhanced calreticulin mRNA expression. Calreticulin levels correlated with intracellular iron increase and were associated with protection from oxidative stress. In C282Y(+/+) patients calreticulin levels correlated with the expression of the UPR marker BiP and showed a negative association with the number of hereditary hemochromatosis clinical manifestations. The data show that expression of C282Y HFE triggers a stress-protective response in HepG2 cells and suggest a role for calreticulin as a modifier of the clinical expression of HH.

  4. Dysmetabolic Hyperferritinemia: All Iron Overload Is Not Hemochromatosis

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    Jasbir Makker

    2015-01-01

    Full Text Available Disturbances in iron metabolism can be genetic or acquired and accordingly manifest as primary or secondary iron overload state. Organ damage may result from iron overload and manifest clinically as cirrhosis, diabetes mellitus, arthritis, endocrine abnormalities and cardiomyopathy. Hemochromatosis inherited as an autosomal recessive disorder is the most common genetic iron overload disorder. Expert societies recommend screening of asymptomatic and symptomatic individuals with hemochromatosis by obtaining transferrin saturation (calculated as serum iron/total iron binding capacity × 100. Further testing for the hemochromatosis gene is recommended if transferrin saturation is >45% with or without hyperferritinemia. However, management of individuals with low or normal transferrin saturation is not clear. In patients with features of iron overload and high serum ferritin levels, low or normal transferrin saturation should alert the physician to other - primary as well as secondary - causes of iron overload besides hemochromatosis. We present here a possible approach to patients with hyperferritinemia but normal transferrin saturation.

  5. Dysmetabolic hyperferritinemia: all iron overload is not hemochromatosis.

    Science.gov (United States)

    Makker, Jasbir; Hanif, Ahmad; Bajantri, Bharat; Chilimuri, Sridhar

    2015-01-01

    Disturbances in iron metabolism can be genetic or acquired and accordingly manifest as primary or secondary iron overload state. Organ damage may result from iron overload and manifest clinically as cirrhosis, diabetes mellitus, arthritis, endocrine abnormalities and cardiomyopathy. Hemochromatosis inherited as an autosomal recessive disorder is the most common genetic iron overload disorder. Expert societies recommend screening of asymptomatic and symptomatic individuals with hemochromatosis by obtaining transferrin saturation (calculated as serum iron/total iron binding capacity × 100). Further testing for the hemochromatosis gene is recommended if transferrin saturation is >45% with or without hyperferritinemia. However, management of individuals with low or normal transferrin saturation is not clear. In patients with features of iron overload and high serum ferritin levels, low or normal transferrin saturation should alert the physician to other - primary as well as secondary - causes of iron overload besides hemochromatosis. We present here a possible approach to patients with hyperferritinemia but normal transferrin saturation.

  6. The Development of Hemochromatosis after Treatment for Celiac Sprue

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    Mang Ma

    1994-01-01

    Full Text Available Celiac sprue is a chronic disease characterized by maldigestion and malabsorption. Whereas many diseases have been reported in association with celiac sprue, hemochromatosis has not. A 62-year-old man with celiac sprue and a history of iron deficiency and osteopenic bone disease who developed hemochromatosis is reported. Liver biopsy showed portal tract fibrosis, early nodule formation and increased hepatic iron storage. The patient developed hemochromatosis with hepatic injury two years after his transferrin saturation became elevated and 10 years after he had been placed on gluten-free diet. Lifelong iron accumulation was prevented by chronic malabsorption of iron but hemochromatosis became manifest when his celiac sprue was treated.

  7. Serum and urinary insulin-like growth factor-1 and tumor necrosis factor in neonates with and without acute renal failure.

    Science.gov (United States)

    Kornhauser, Carlos; Dubey, Luis-Antonio; Garay, M-Eugenia; Pérez-Luque, Elva-Leticia; Malacara, Juan-Manuel; Vargas-Origel, Arturo

    2002-05-01

    Acute renal failure (ARF) in neonates may occur after renal ischemia. Growth factors participate in the tubular regeneration process. Insulin-like growth factor-1 (IGF-1) is produced in the kidney during the recovery phase of ARF. Tumor necrosis factor-alpha (TNFalpha) may play a role in renal apoptosis. We examined serum and urinary IGF-1 and TNFalpha in neonates with or without ARF after asphyxia, in order to assess their possible use as markers of renal damage and recovery. We studied 20 full-term asphyxiated neonates, 10 with ARF and 10 without ARF, and compared them with 13 normal newborns for 7 days after birth. Blood urea, creatinine, pH, base deficit, and serum and urine IGF-1 and TNFalpha were assessed. Neonates with ARF had more-severe acidosis than patients without ARF. All patients had lower serum IGF-1 values immediately after birth than control children. Serum IGF-1 remained low in the ARF patients. The initial urinary IGF-1 was higher in all patients compared with control newborns, and remained elevated for the rest of the study only in the ARF neonates. Serum and urinary TNFalpha concentrations were similar for all healthy and diseased neonates. Measurement of serum and urinary IGF-1 levels in ARF neonates might be of additional value for clinical assessment of ARF.

  8. Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

    Science.gov (United States)

    McLaren, Gordon D; Gordeuk, Victor R

    2009-01-01

    Hemochromatosis comprises a group of inherited disorders resulting from mutations of genes involved in regulating iron metabolism. The multicenter, multi-ethnic Hemochromatosis and Iron Overload Screening (HEIRS) Study screened approximately 100,000 participants in the US and Canada, testing for HFE mutations, serum ferritin and transferrin saturation. As in other studies, HFE C282Y homozygosity was common in Caucasians but rare in other ethnic groups, and there was a marked heterogeneity of disease expression in C282Y homozygotes. Nevertheless, this genotype was often associated with elevations of serum ferritin and transferrin saturation and with iron stores of more than four grams in men but not in women. If liver biopsy was performed, in some cases because of evidence of hepatic dysfunction, fibrosis or cirrhosis was often found. Combined elevations of serum ferritin and transferrin saturation were observed in non-C282Y homozygotes of all ethnic groups, most prominently Asians, but not often with iron stores of more than four grams. Future studies to discover modifier genes that affect phenotypic expression in C282Y hemochromatosis should help identify patients who are at greatest risk of developing iron overload and who may benefit from continued monitoring of iron status to detect progressive iron loading.

  9. Hemochromatosis heterozygotes may constitute a radiation-sensitive subpopulation.

    Energy Technology Data Exchange (ETDEWEB)

    Stevens, R G.(GEORGE A GRANT INC); Morris, James E.(BATTELLE (PACIFIC NW LAB)); Anderson, Larry E.(BATTELLE (PACIFIC NW LAB))

    1999-12-01

    A primary mechanism of radiation-induced DNA damage is by generation of free radicals. Chronically increased oxidative stress from elevated body iron may increase radiation sensitivity by decreasing cellular oxygen radical scavenging capability. Hemochromatosis heterozygotes have elevated body iron. Low-level radiation sensitization by iron may be particularly pertinent for risk of breast cancer. Since ten percent of the population appears to be heterozygous for the hemochromatosis gene, a radiosensitizing effect would have pervasive implications.

  10. [Iron chelate treatment of hereditary sideroblastic anemia complicated by hemochromatosis].

    Science.gov (United States)

    Kremp, L; Girot, R; Alliot, S; Najean, Y; Douchain, F; Hongre, J F

    1983-01-01

    In a child with sideroblastic anemia complicated with hemochromatosis, iron overload was successfully treated with slow subcutaneous perfusion of deferoxamine. A 28 month-treatment resulted in the inversion of iron balance, which became negative, and the normalization of serum ferritin and abdominal CT scan. These results indicate that deferoxamine perfusion 12/24 hrs is able to restrict or even to remove the iron overload, previously responsible for hemochromatosis, a factor of mortality in this disease.

  11. The management of neonatal acute and chronic renal failure: A review.

    Science.gov (United States)

    Coulthard, Malcolm G

    2016-11-01

    Most babies with chronic renal failure are identified antenatally, and over half that are treated with peritoneal dialysis receive kidney transplants before school age. Most infants that develop acute renal failure have hypotension following cardiac surgery, or multiple organ failure. Sometimes the falls in glomerular filtration and urine output are physiological and reversible, and sometimes due to kidney injury, but (illogically) it is now common to define them all as having 'acute kidney injury'. Contrary to widespread opinion, careful interpretation of the plasma creatinine concentrations can provide sensitive evidence of early acute renal failure. Conservative management frequently leads to under-nutrition or fluid overload. Acute peritoneal dialysis is often technically fraught in very small patients, and haemotherapies have been limited by vascular access and anticoagulation requirements, the need to blood-prime circuits, and serious limitations in regulating fluid removal. Newer devices, including the Nidus, have been specifically designed to reduce these difficulties.

  12. Biliary excretion of iron and ferritin in idiopathic hemochromatosis

    Energy Technology Data Exchange (ETDEWEB)

    Hultcrantz, R.; Angelin, B.; Bjoern-Rasmussen, E.E.; Ewerth, S.; Einarsson, K.

    1989-06-01

    The role of biliary excretion of iron and ferritin in iron overload was studied and evaluated. Ten patients with idiopathic hemochromatosis and two groups of controls (14 gallstone patients and 16 healthy subjects) were included. Liver tissue (obtained by percutaneous or operative biopsy) was investigated with light microscopy and transmission electron microscopy in combination with x-ray microanalysis. Fasting bile samples were obtained through duodenal aspiration or at cholecystectomy. Iron was determined in liver tissue and bile using atomic absorption spectroscopy, and ferritin was determined in serum and bile with a radioimmunoassay technique. All patients with hemochromatosis had iron-positive staining as seen in light microscopy. Electron microscopy showed iron-containing proteins in the lysosomes and cytosol of liver parenchymal cells, and this observation was supported by x-ray microanalysis. Hepatic iron concentration was increased about eightfold in the patients with hemochromatosis (p less than 0.001). Biliary iron concentration, expressed per millimole of bile acid, was increased about twofold (p less than 0.05) and biliary ferritin concentration about fivefold (p less than 0.001) in hemochromatosis. Four of the patients with hemochromatosis were reexamined after completed treatment with venesection; this resulted in normalized biliary concentrations of iron and ferritin. We conclude that biliary secretion of ferritin occurs in humans and that both iron and ferritin excretion are enhanced in hepatic iron overload. The apparently limited capacity of biliary iron excretion may be of importance for the hepatic iron accumulation in hemochromatosis.

  13. An unfortunate case of acquired hemochromatosis: a case report review of the clinical presentation, diagnosis, management, and prognosis

    Directory of Open Access Journals (Sweden)

    Tariq A

    2016-12-01

    Full Text Available Anam Tariq,1 Kevin Westra,2 Arben Santo3 1Department of Internal Medicine, Pinnacle Health Internal Medicine, 2Department of Gastroenterology, Harrisburg Gastroenterology, Harrisburg, PA, 3Department of Pathology, Virginia College of Osteopathic Medicine-Virginia Tech, Blacksburg, VA, USA Background: While blood transfusions are commonly used for prophylaxis and treatment for acute chest syndromes and strokes in sickle cell patients, accumulation of excess iron resulting in secondary hemochromatosis remains a rare disease. Chelation is the mainstay for preventing and treating iron overload to deter potential end-organ damages; it is rare when therapy fails. Case report: A 52-year-old African American woman with chronic anemia secondary to sickle cell anemia and history of multiple blood transfusions presented with elevated serum ferritin (8000 ng/mL and bilirubin (16.8 mg/dL. She had no previous personal or family history of liver disease. A magnetic resonance cholangiopancreatography (MRCP and a liver biopsy confirmed the secondary hemochromatosis with marked fibrosis and 4+ iron deposits, but since she was therapeutically on deferasirox, her treatment regimen involved only closer monitoring. Her hemochromatosis led to readmission within a year for rapid progression of cardiac and hepatic failure. Conclusion: Since chronically transfused sickle cell patients are at a significantly higher risk of mortality due to the secondary hemochromatosis and end-stage organ damage, knowledge of prophylactic iron chelation is important. Minimizing unnecessary transfusions should be strongly emphasized to reduce the sequelae as iron burden remains a threat. The effectiveness of iron-chelating therapy is best monitored via periodic magnetic resonance imaging, liver transaminases, bilirubin, creatinine, ferritin, and cardiac function tests. Despite the prophylactic treatment and quarterly blood work, in this case the initial presentation did not correlate with

  14. Red cell concentrates of hemochromatosis patients comply with the storage guidelines for transfusion purposes.

    NARCIS (Netherlands)

    Luten, M.; Roerdinkholder-Stoelwinder, B.; Rombout-Sestrienkova, E.; Grip, W.J. de; Bos, H.J.; Bosman, G.J.C.G.M.

    2008-01-01

    BACKGROUND: Therapeutic phlebotomy is the preferred treatment for iron overload associated with hemochromatosis. In the Netherlands, red blood cell concentrates (RCCs) from hemochromatosis patients are not used for transfusion purposes. In this study, their storage performance was compared with that

  15. Red cell concentrates of hemochromatosis patients comply with the storage guidelines for transfusion purposes.

    NARCIS (Netherlands)

    Luten, M.; Roerdinkholder-Stoelwinder, B.; Rombout-Sestrienkova, E.; Grip, W.J. de; Bos, H.J.; Bosman, G.J.C.G.M.

    2008-01-01

    BACKGROUND: Therapeutic phlebotomy is the preferred treatment for iron overload associated with hemochromatosis. In the Netherlands, red blood cell concentrates (RCCs) from hemochromatosis patients are not used for transfusion purposes. In this study, their storage performance was compared with that

  16. Two successful neonatal extracorporeal membrane oxygenation treatment for severe heart failure after cardiac surgery

    Institute of Scientific and Technical Information of China (English)

    TAN Lin-hua; DU Li-zhong; HE Xiao-jun; SUN Mei-yue; ZHANG Ze-wei; LIN Ru

    2009-01-01

    @@ Extracorporeal membrane oxygenation(ECMO)can play an important role by providing short-term circulatory support to enable myocardial recovery in patients with life-threatening heart failure.Currently,over 4000 children who received ECMO for cardiac support have been reported to the Extracorporeal Life Support Registry,with the majority of patients placed on ECMO following cardiac surgery.

  17. Considerations in the management of hypoxemic respiratory failure and persistent pulmonary hypertension in term and late preterm neonates.

    Science.gov (United States)

    Lakshminrusimha, S; Konduri, G G; Steinhorn, R H

    2016-06-01

    Recent advances in our understanding of neonatal pulmonary circulation and the underlying pathophysiology of hypoxemic respiratory failure (HRF)/persistent pulmonary hypertension of the newborn (PPHN) have resulted in more effective management strategies. Results from animal studies demonstrate that low alveolar oxygen tension (PAO2) causes hypoxic pulmonary vasoconstriction, whereas an increase in oxygen tension to normoxic levels (preductal arterial partial pressure of oxygen (PaO2) between 60 and 80 mm Hg and/or preductal peripheral capillary oxygen saturation between 90% and 97%) results in effective pulmonary vasodilation. Hyperoxia (preductal PaO2 >80 mm Hg) does not cause further pulmonary vasodilation, and oxygen toxicity may occur when high concentrations of inspired oxygen are used. It is therefore important to avoid both hypoxemia and hyperoxemia in the management of PPHN. In addition to oxygen supplementation, therapeutic strategies used to manage HRF/PPHN in term and late preterm neonates may include lung recruitment with optimal mean airway pressure and surfactant, inhaled and intravenous vasodilators and 'inodilators'. Clinical evidence suggests that administration of surfactant or inhaled nitric oxide (iNO) therapy at a lower acuity of illness can decrease the risk of extracorporeal membrane oxygenation/death, progression of HRF and duration of hospital stay. Milrinone may be beneficial as an inodilator and may have specific benefits following prolonged exposure to iNO plus oxygen owing to inhibition of phosphodiesterase (PDE)-3A. Additionally, sildenafil, and, in selected cases, hydrocortisone may be appropriate options after hyperoxia and oxidative stress owing to their effects on PDE-5 activity and expression. Continued investigation into these and other interventions is needed to optimize treatment and improve outcomes.

  18. ABO blood group is associated with response to inhaled nitric oxide in neonates with respiratory failure.

    Directory of Open Access Journals (Sweden)

    George T El-Ferzli

    Full Text Available BACKGROUND: Inhaled nitric oxide (iNO reduces death or need for extracorporeal membrane oxygenation (ECMO in infants with persistent pulmonary hypertension of the newborn (PPHN. However, the response to iNO is variable and only 50-60% of infants demonstrate a response to iNO. It is not known why only some infants respond to iNO. Adults and children with blood groups B or AB do not respond as well to iNO as those with blood groups O/A. METHODS/PRINCIPAL FINDINGS: To determine if blood group was associated with iNO response in newborn infants, a retrospective medical record review was done of infants admitted to a regional NICU from 2002-9 with a diagnosis of PPHN. Data were collected during the first twelve hours post-initiation of treatment. Of 86 infants diagnosed with PPHN, 23 infants had blood group A [18 received iNO], 21 had group B [18 with iNO], 40 had group O [36 with iNO], and 2 had group AB [both received iNO]. Change in PaO(2/FiO(2 was less in infants with blood group A, of whom less than half were responders (ΔPaO(2/FiO(2>20% at 12 h versus 90% of infants with either O or B. Race, sex, birth weight, gestational age, Apgar scores at 1 and 5 minutes, and baseline PaO(2/FiO(2 were similar among groups. Outcomes including need for ECMO, death, length of ventilatory support, length of iNO use, and hospital stay were statistically not different by blood groups. CONCLUSIONS/SIGNIFICANCE: Our results indicate that blood group influences iNO response in neonates. We hypothesize that either there is genetic linkage of the ABO gene locus with vasoregulatory genes, or that blood group antigens directly affect vascular reactivity.

  19. Hereditary hemochromatosis in an Indian origin: A rare case report

    Directory of Open Access Journals (Sweden)

    R L Geetha

    2015-01-01

    Full Text Available Hereditary hemochromatosis (HH is manifested as an iron overload in different organs due to homozygosity of a single autosomal mutation. If untreated it leads to conditions such as liver cirrhosis, type 1 diabetes mellitus, hypogonadotropic hypogonadism, cardiomyopathy, arthritis, and bronze coloring of the skin. Hemochromatosis affects as many as 1 in every 200 people in the United States, but in India the reports of genetic study are rare and virtually unexplored. It is also possible that in India clinical hemochromatosis could be masked by iron deficiency. Patients with HH may be either asymptomatic or symptomatic. When symptomatic, there is a wide range of symptoms and a high index of suspicion based on the symptoms is necessary to diagnose the entity. We report an interesting and rare case of HH in a 35-year-old male of Indian origin, who presented with icterus and fever of acute onset with negative HFE genetic mutations.

  20. Prenatal exposure to methyldopa leading to hypertensive crisis and cardiac failure in a neonate.

    Science.gov (United States)

    Su, Jennifer A; Tang, William; Rivero, Niurka; Bar-Cohen, Yaniv

    2014-05-01

    A 2-week-old infant with normal intracardiac anatomy presented to the emergency department in a hypertensive crisis with acute cardiac failure. Despite extensive evaluation, no underlying disease was found. The patient's hypertension and cardiac dysfunction resolved after 1 week of supportive care in the PICU, and she was discharged within 2 weeks of presentation. The patient's history revealed transplacental exposure to the α-adrenergic agonist methyldopa for 10 weeks before delivery. Her age at presentation and the self-limited nature of cardiac sequelae with complete resolution of cardiac dysfunction suggest withdrawal effects from this exposure. Whereas the rebound hypertensive effects of α-adrenergic agonists are well established in the adult population, this report shows an unusual adverse outcome of in utero exposure to methyldopa.

  1. Radiological features of the visceral and skeletal involvement of hemochromatosis

    Energy Technology Data Exchange (ETDEWEB)

    Jaeger, H.J.; Mehring, U.M.; Goetz, G.F.; Mathias, K.D. [Department of Diagnostic Radiology, City Hospital Dortmund, Beurhausstrasse 40, D-44 137 Dortmund (Germany); Neise, M. [Department of Medicine, St. Johannes Hospital, An der Abtei 7-11, D-47 166 Duisburg (Germany); Erlemann, R. [Department of Diagnostic Radiology, St. Johannes Hospital, An der Abtei 7-11, D-47 166 Duisburg (Germany); Kapp, H.J. [Department of Diagnostic Radiology, Center for Rheumatology, Rheingaustrasse, D-65 388 Schlangenbad (Germany)

    1997-10-01

    Hemochromatosis is a multisystem disorder produced by the excessive accumulation of iron in visceral organs and the musculoskeletal system. Clinically the disease may be silent, but characteristic radiological features may point to the diagnosis. The increased iron stores in the organs involved, especially in the liver and pancreas, result in an increased attenuation at unenhanced CT and an decreased signal intensity at MR imaging. Hemochromatosis arthropathy includes degenerative osteoarthritis and chondrocalcinosis. The distribution of the arthropathy is distinctive, but not unique, frequently affecting the second and third metacarpophalangeal joints of the hand. (orig.). With 15 figs., 4 tabs.

  2. Predictors of mortality in out born neonates with acute renal failure; an experience of a single center

    National Research Council Canada - National Science Library

    Kapoor, Kapil; Jajoo, Mamta; Dabas, Vikas

    2013-01-01

    ...) in an out born Neonatal Intensive Care Unit (NICU) of India. A retrospective analysis of case records of out born neonates, who had ARF at admission or developed ARF during NICU stay, from January to December 2011 (one year) was done...

  3. Depletion of PHF14, a novel histone-binding protein gene, causes neonatal lethality in mice due to respiratory failure

    Institute of Scientific and Technical Information of China (English)

    Qin Huang; Lin Zhang; Yiguo Wang; Chenyi Zhang; Shuhua Zhou; Guang Yang; Zhongqiang Li

    2013-01-01

    The plant homeodomain (PHD) finger is identified in many chromatin-binding proteins,and functions as a ‘reader' that recognizes specific epigenetic marks on histone tails,bridging transcription factors and their associated complexes to chromatin,and regulating gene expression.PHD finger-containing proteins perform many biological functions and are involved in many human diseases including cancer.PHF14 is predicted to code for a protein with multiple PHD fingers.However,its function is unidentified.The aim of this study is to characterize PHF14 and investigate its biological significance by employing multiple approaches including mouse gene-targeting knockout,and molecular cloning and characterization.Three transcripts of PHF14 in human cell lines were identified by reverse transcriptase polymerase chain reaction.Two isoforms of PHF14 (PHF14α and PHF14β) were cloned in this study.It was found that PHF14 was ubiquitously expressed in mouse tissues and human cell lines.PHF14α,the major isoform of PHF14,was localized in the nucleus and also bound to chromatin during cell division.Interestingly,co-immunoprecipitation results suggested that PHF14α bound to histones via its PHD fingers.Strikingly,genetargeting knockout of PHF14 in mice resulted in a neonatal lethality due to respiratory failure.Pathological analysis revealed severe disorders of tissue and cell structures in multiple organs,particularly in the lungs.These results indicated that PHF14 might be an epigenetic regulator and play an important role in the development of multiple organs in mouse.

  4. R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis.

    Science.gov (United States)

    Henninger, B; Rauch, S; Zoller, H; Plaikner, M; Jaschke, W; Kremser, C

    2017-04-01

    To evaluate pancreatic iron in patients with human hemochromatosis protein associated hereditary hemochromatosis (HHC) using R2* relaxometry. 81 patients (58 male, 23 female; median age 49.5, range 10-81 years) with HHC were retrospectively studied. All underwent 1.5T magnetic resonance imaging (MRI) of the abdomen. A fat-saturated multi-gradient echo sequence with 12 echoes (TR=200ms; TE-initial 0.99ms; Delta-TE 1.41ms; 12 echoes; flip-angle: 20°) was used for the R2* quantification of the liver and the pancreas. Parameter maps were analyzed using regions of interest (3 in the liver and 2 in the pancreas) and R2* values were correlated. 59/81 patients had a liver R2*≥70 1/s of which 10/59 patients had a pancreas R2*≥50 1/s. No patient presented with a liver R2*pancreas R2*≥50 1/s. All patients with pancreas R2* values≥50 1/s had liver R2* values≥70 1/s. ROC analysis resulted in a threshold of 209.4 1/s for liver R2* values to identify HFE positive patients with pancreas R2* values≥50 1/s with a median specificity of 78.87% and a median sensitivity of 90%. In patients with HHC R2* relaxometry of the pancreas should be performed when liver iron overload is present and can be omitted in cases with no sign of hepatic iron. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Does bilirubin protect against hemochromatosis gene (HFE) related mortality?

    NARCIS (Netherlands)

    Alizadeh, Behrooz Z.; Njajou, Omer T.; Houwing-Duistermaat, Jeanine J.; de Jong, Gerard; Vergeer, Jeannette M.; Hofman, Albert; Pols, Huibert A.P.; van Duijn, Cornelia M.

    2004-01-01

    Serum bilirubin is an important antioxidant that is found at increased levels in hereditary hemochromatosis patients. We hypothesized that increased levels of serum bilirubin may play a protective role against oxidative stress induced by iron overload in carriers of mutations in the hereditary hemoc

  6. Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible?

    Science.gov (United States)

    Barron, R; Grace, N D; Sherwood, G; Powell, L W

    1989-04-01

    Idiopathic hemochromatosis is a hereditary disease that is associated with human leucocytic antigens A3, B7, and B14. A genetic association between human leucocytic antigen-linked hemochromatosis and idiopathic refractory sideroblastic anemia has been suggested that may predispose some patients with idiopathic refractory sideroblastic anemia to develop gross iron overload. Study of the family of a patient with idiopathic refractory sideroblastic anemia and hemochromatosis revealed that 2 of 5 first-degree relatives had significant elevations of serum ferritin, and a shared human leucocytic antigen haplotype, supporting the concept that patients with idiopathic refractory sideroblastic anemia and significant iron overload have at least one allele for hemochromatosis.

  7. Hereditary Hemochromatosis Restores the Virulence of Plague Vaccine Strains

    Science.gov (United States)

    Quenee, Lauriane E.; Hermanas, Timothy M.; Ciletti, Nancy; Louvel, Helene; Miller, Nathan C.; Elli, Derek; Blaylock, Bill; Mitchell, Anthony; Schroeder, Jay; Krausz, Thomas; Kanabrocki, Joseph; Schneewind, Olaf

    2012-01-01

    Nonpigmented Yersinia pestis (pgm) strains are defective in scavenging host iron and have been used in live-attenuated vaccines to combat plague epidemics. Recently, a Y. pestis pgm strain was isolated from a researcher with hereditary hemochromatosis who died from laboratory-acquired plague. We used hemojuvelin-knockout (Hjv−/−) mice to examine whether iron-storage disease restores the virulence defects of nonpigmented Y. pestis. Unlike wild-type mice, Hjv−/− mice developed lethal plague when challenged with Y. pestis pgm strains. Immunization of Hjv−/− mice with a subunit vaccine that blocks Y. pestis type III secretion generated protection against plague. Thus, individuals with hereditary hemochromatosis may be protected with subunit vaccines but should not be exposed to live-attenuated plague vaccines. PMID:22896664

  8. Bloodletting therapy in hemochromatosis: Does it affect trace element homeostasis?

    Science.gov (United States)

    Bolann, Bjørn J; Distante, Sonia; Mørkrid, Lars; Ulvik, Rune J

    2015-01-01

    Hemochromatosis is the most common hereditary disorder in the Nordic population, if left untreated it can result in severe parenchymal iron accumulation. Bloodletting is mainstay treatment. Iron and trace elements partially share cellular uptake and transport mechanisms, and the aim of the present study was to see if bloodletting for hemochromatosis affects trace elements homeostasis. We recruited patients referred for diagnosis and treatment of hemochromatosis, four women and 22 men 23-68 years of age. Thirteen were C282Y homozygote, one was C282Y heterozygote, three were H63D homozygote, seven were compound heterozygote and two had none of the mutations above. Iron and liver function tests were performed; serum levels of trace elements were measured using inductively coupled plasma mass spectrometry. Results before the start of treatment and after normalization of iron parameters were compared. On completion of the bloodlettings the following average serum concentrations increased: Co from 5.6 to 11.5 nmol/L, serum Cu 16.2-17.6 μmol/L, Ni increased from 50.0 to 52.6 nmol/L and Sb from 13.2 to 16.3 nmol/L. Average serum Mn concentration declined from 30.2 to 28.3 nmol/L. All changes were statistically significant (by paired t-test). B, Ba, Cs, Mo, Se, Sr and Zn were not significantly changed. We conclude that bloodlettings in hemochromatosis lead to changes in trace element metabolism, including increased absorption of potentially toxic elements.

  9. A liver fibrosis cocktail? Psoriasis, methotrexate and genetic hemochromatosis

    Directory of Open Access Journals (Sweden)

    Morley Nick

    2005-11-01

    Full Text Available Abstract Background Pathologists are often faced with the dilemma of whether to recommend continuation of methotrexate therapy for psoriasis within the context of an existing pro-fibrogenic risk factor, in this instance, patients with genetic hemochromatosis. Case presentations We describe our experience with two male psoriatic patients (A and B on long term methotrexate therapy (cumulative dose A = 1.56 gms and B = 7.88 gms with hetero- (A and homozygous (B genetic hemochromatosis. These patients liver function were monitored with routine biochemical profiling; apart from mild perivenular fibrosis in one patient (B, significant liver fibrosis was not identified in either patient with multiple interval percutaneous liver biopsies; in the latter instance this patient (B had an additional risk factor of partiality to alcohol. Conclusion We conclude that methotrexate therapy is relatively safe in patients with genetic hemochromatosis, with no other risk factor, but caution that the risk of fibrosis be monitored, preferably by non-invasive techniques, or by liver biopsy.

  10. Identification of priorities for medication safety in the neonatal intensive care unit via failure mode and effect analysis

    Directory of Open Access Journals (Sweden)

    Ali Vafaee Najar

    2016-06-01

    Conclusion: FMEA is an effective proactive risk-assessment tool, used to help multidisciplinary teams to understand the healthcare process and identify the possible errors. In addition, it helps prioritize remedial interventions for patients and enhance the safety of drug prescription in neonates.

  11. Adrenal function of neonates with respiratory failure%呼吸衰竭新生儿肾上腺皮质功能状态分析

    Institute of Scientific and Technical Information of China (English)

    沈云琳; 黄绮薇; 张宇鸣; 张育才; 田国力

    2009-01-01

    目的 研究呼吸衰竭新生儿(新生儿呼吸窘迫综合征、肺炎和重症湿肺)肾上腺皮质功能变化、肾上腺皮质功能不全(AI)的发生率及其与病情的关系.方法 研究对象为人住我院的呼吸衰竭新生儿55例(其中早产儿33例,足月儿22例),分别检测清晨血清基础皮质醇和促肾上腺皮质激素(ACTH)浓度,及小剂量ACTH刺激试验30 min后血清皮质醇峰值.血清皮质醇峰值浓度<200 μg/L为合并AI.结果 呼吸衰竭早产儿基础皮质醇浓度较足月儿高[(139.2±85.4)μg/L vs(92.1±75.0)μg/L,P=0.040 7],而小剂量ACTH刺激试验前后皮质醇差值及ACTH浓度则较足月儿低[(122.3±56.4)μg/L vs(198.2±77.9)μg/L,P=0.000 1;(5.22±2.40)ng/L vs(8.66±5.41)ng/L.P=0.008 4].呼吸衰竭新生儿合并AJ的发生率为20.0%(11/55),其中早产儿组为21.2%(7/33),足月儿组为18.2%(4/22).需机械通气呼吸衰竭新生儿AI的发生率(29.4%)高于非机械通气新生儿(4.8%).AI新生儿中无死亡病例.结论 呼吸衰竭早产儿肾上腺皮质和垂体功能较足月儿差.呼吸衰竭新生儿合并AJ的发生率较高.需机械通气的呼吸衰竭新生儿AJ的发生率高于机械通气者.未发现AJ与病死率相关.小剂量ACTH刺激试验可较好地评估新生儿肾上腺皮质功能.%Objective To observe the adrenal function in neonates with respiratory failure(neonatal respiratory distress syndrome,pneumonia and severe wet lung),the incidence of adrenal insufficiency,and the relationships between adrenal function and lung diseases.Methods Fifty-five cases of neonates(the preterm group of 33 cases,the term group of 22 cases)were enrolled the study.Serum cortisol values and plasma adrenocorticotropic hormone(ACTH)concentration were detected in the morning.Peak serum cortisol values were detected after 30 minutes low-dose(1 μg/1.73 m2)ACTH stimulation test.Adrenal insufficiency was defined as the peak serum cortisol values < 200 μg/L.Results The mean

  12. Gallium-67 scintigraphy in patients with hemochromatosis treated by deferoxamine

    Energy Technology Data Exchange (ETDEWEB)

    Nagamachi, Shigeki; Hoshi, Hiroaki; Jinnouchi, Seishi; Ono, Seiji; Watanabe, Katsushi

    1988-05-01

    Gallium scintigraphy was performed as an aid for determining the presence or absence of malignant neoplasm in two patients with hemochromatosis treated by deferoxamine. However, gallium scan images could not be obtained. So gallium scintigraphy was performed once more to investigate the cause of low activity. Both patients had heavy urinary excretion of gallium in the first 24 hrs after the injection, and activity was very low on the day of examination. This phenomenon may be attributed to the effect of deferoxamine which is highly bound to the gallium.

  13. Concomitant presentation of collagenous sprue and HFE hemochromatosis.

    Science.gov (United States)

    Parisian, Keely R; Plesec, Thomas P; Fairbanks, Kyrsten D; Tavill, Anthony S; Shen, Bo

    2011-08-01

    Collagenous sprue (CS) is a progressive malabsorptive disorder characterized by collagen deposition beneath the basement membrane of small bowel epithelium in refractory celiac sprue. CS is a pathologically distinct entity from celiac disease, despite a similar clinical presentation. The etiology of CS is unclear, although there are speculations that CS and celiac disease may share similar pathogenetic pathways. On the other hand, HFE hemochromatosis (HH) is a distinct disease entity. Celiac disease and HH are common HLA-associated genetic disorders in Northern European populations. There are a few case reports linking celiac disease and HH. We present a patient diagnosed with concurrent CS and HH.

  14. Incidência de insuficiência renal aguda na Unidade de Terapia Intensiva Neonatal de um hospital paulista Incidencia de insuficiencia renal crónica aguda en la Unidad de Cuidados Intensivos Neonatal de un hospital de Sao Paulo Incidence of acute renal failure in the Neonatal Intensive Care Unit of a hospital in São Paulo

    Directory of Open Access Journals (Sweden)

    Renato Ribeiro Nogueira Ferraz

    2009-01-01

    .OBJECTIVES: To describe the incidence of acute renal failure (ARF in the neonatal intensive care unit (NICU of a hospital in São Paulo and to verify the use of the "risk of renal failure, injury to the kidney, failure of kidney function, loss of kidney function and end-stage renal failure (RIFLE" classification for the allocation of the neonates. METHODS: Review of medical records of neonates from April 4 to April 25, 2008. RESULTS: Of the 19 admissions in the NICU, 10% were diagnosed as ARF according to the RIFLE classification. The neonates diagnosed with ARF were referred to the dialysis service. CONCLUSION: Although this study had a very small sample size, the findings indicate that ARF represents 10% of the primary diagnosis among our sample of neonates admitted to the NICU. Large and longer studies are necessary to evaluate the incidence of ARF in the NICU.

  15. High liver FDG uptake on PET/CT in patient with lymphoma diagnosed with hereditary hemochromatosis.

    Science.gov (United States)

    Infante, Jose R; Moreno, Manuel; Rayo, Juan I; Serrano, Justo; Dominguez, Maria L; Garcia, Lucia

    2015-06-01

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs. We present a 64-year-old white man with non-Hodgkin lymphoma treated with high-dose chemotherapy and stem cell transplant that was subsequently diagnosed with hereditary hemochromatosis. F-FDG PET/CT was performed as routine follow-up and showed a pathological finding of homogeneous increased liver glucose metabolism. Increased FDG avidity in the liver suggested the presence of damage caused by hemochromatosis.

  16. Hereditary hemochromatosis and risk of ischemic heart disease

    DEFF Research Database (Denmark)

    Ellervik, Christina; Tybjaerg-Hansen, Anne; Grande, Peer;

    2005-01-01

    BACKGROUND: We tested the hypothesis that the hereditary hemochromatosis genotypes C282Y/C282Y, C282Y/H63D, or C282Y/wild-type are risk factors for ischemic heart disease (IHD) and myocardial infarction (MI). METHODS AND RESULTS: We performed a prospective study of 9178 individuals from the Danish...... risk of IHD or MI in prospective studies, overall or stratified by gender. We had 90% power to detect a hazard ratio for IHD of 3.4 for C282Y/C282Y, 1.9 for C282Y/H63D, and 1.3 for C282Y/wild-type versus wild-type/wild-type. Furthermore, these genotypes were not associated with increased risk of IHD...... or MI in case-control studies, overall or stratified by gender. We had 90% power to detect an odds ratio for IHD of 3.6 for C282Y/C282Y, 1.8 for C282Y/H63D, and 1.3 for C282Y/wild-type versus wild-type/wild-type. CONCLUSIONS: In these studies, hereditary hemochromatosis C282Y/C282Y, C282Y/H63D, and C282...

  17. Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity.

    Science.gov (United States)

    Papanikolaou, G; Politou, M; Terpos, E; Fourlemadis, S; Sakellaropoulos, N; Loukopoulos, D

    2000-04-01

    Hereditary hemochromatosis (HH) is common among Caucasians; reported disease frequencies vary from 0.3 to 0.8%. Identification of a candidate HFE gene in 1996 was soon followed by the description of two ancestral mutations, i.e., c.845G-->A (C282Y) and c.187C-->G (H63D). To these was recently added the mutation S65C, which may represent a simple polymorphism. The incidence of HH in Greece is unknown but clinical cases are rare. Also unknown is the carrier frequency of the two mutant alleles. A first estimate of the latter is given in the present report. It is based on data from the genetic analysis of 10 unrelated patients of Greek origin who were referred to our center for genotyping and 158 unselected male blood donors. The allele frequencies for the C282Y and H63D mutations were 0.003 and 0.145, respectively. The C282Y allele was detected in 50% of HH patients. This is considerably lower than the frequencies reported for HH patients in the U.S.A. (82%) and France (91 %) and closer to that reported in Italy (64%). Five patients did not carry any known HFE mutation; three may represent cases of juvenile hemochromatosis, given their early onset with iron overload, hypogonadism, and heart disease. We suggest that genetic heterogeneity is more prominent in Southern Europe. It is also possible that the penetrance of the responsible genes is different across the Mediterranean.

  18. Complicated Candida parapsilosis peritonitis on peritoneal dialysis in a neonate with renal failure because of bilateral adrenal abscesses.

    Science.gov (United States)

    Cheng, I; Chen, Yi-Lin; Lin, Cheng-Hui; Jow, Guey-Mei; Mu, Shu-Chi

    2011-10-01

    We present a full-term female infant with a difficult delivery course complicated with Escherichia coli sepsis and bilateral adrenal abscesses. She developed renal failure and received peritoneal dialysis. Peritonitis of Candida parapsilosis developed later. The infant was successfully treated with hemofiltration and a combination of antifungal agents.

  19. Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene.

    Science.gov (United States)

    Koyama, Chizu; Hayashi, Hisao; Wakusawa, Shinya; Ueno, Toshio; Yano, Motoyoshi; Katano, Yoshiaki; Goto, Hidemi; Kidokoro, Ryuichi

    2005-10-01

    Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G > C [D249H]), and the second and third patients from the same family were homozygous for another novel mutation (934C > T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.

  20. Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.

    Science.gov (United States)

    Farrell, Colin P; Parker, Charles J; Phillips, John D

    2015-08-01

    Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not. As an alternative to conventional genetic testing we propose diagnostic use of whole exome sequencing for characterization of non-HFE hemochromatosis. To illustrate the effectiveness of whole exome sequencing as a diagnostic tool, we present the case of an 18-year-old female with a probable case of juvenile hemochromatosis, who was referred for specialty care after testing negative for commonly occurring HFE variants. Whole exome sequencing offered complete coverage of target genes and is a fast, cost effective diagnostic tool for characterization of non-HFE hemochromatosis.

  1. A 4.5-megabase YAC contig and physical map over the hemochromatosis gene region

    Energy Technology Data Exchange (ETDEWEB)

    Burt, M.J.; Smit, D.J.; Pyper, W.R.; Powell, L.W.; Jazwinska, E.C. [Univ. of Queensland, Brisbane (Australia)

    1996-04-15

    We have constructed a yeast artificial chromosome (YAC) contig over the candidate hemochromatosis gene region. This contig comprises hemochromatosis gene region. This contig comprises 16 YACs from the CEPH, Washington University, and ICI YAC libraries and covers 4.5 Mb at 6p21.3-6p22. The complete contig has been restriction mapped, enabling the precise relationship between the YACs to be determined and the mapping of a total of 12 STSs. Nine of these are highly polymorphic STSs that are closely linked to hemochromatosis; this series includes D6S265 and D6S1260, which comprise the most proximal and distal markers linked to HC. This is the first YAC contig that spans the hemochromatosis candidate region, and it provides valuable resource material for the cloning of this and other genes in the region distal to the MHC class I complex. 33 refs., 1 fig., 1 tab.

  2. Synchrotron X-ray microscopy and spectroscopy analysis of iron in hemochromatosis liver and intestines

    Energy Technology Data Exchange (ETDEWEB)

    Ko, J .Y. Peter; Sham, Tsun-Kong; Chakrabarti, Subrata; Adams, Paul C.; (UWO)

    2009-12-01

    Hemochromatosis is a genetic disorder that causes body to store excess iron in organs such as heart or liver. Distribution of iron, as well as copper, zinc and calcium, and chemical identity of iron in hemochromatosis liver and intestine were investigated by X-ray microprobe experiments, which consist of X-ray microscopy and micro-X-ray absorption fine structure. Our results show that iron concentration in hemochromatosis liver tissue is high, while much less Fe is found in intestinal tissue. Moreover, chemical identity of Fe in hemochromatosis liver can be identified. X-ray microprobe experiments allows for examining elemental distribution at an excellent spatial resolution. Moreover, chemical identity of element of interest can be obtained.

  3. Synchrotron X-ray microscopy and spectroscopy analysis of iron in hemochromatosis liver and intestines

    Science.gov (United States)

    Ko, J. Y. Peter; Sham, Tsun-Kong; Chakrabarti, Subrata; Adams, Paul C.

    2009-11-01

    Hemochromatosis is a genetic disorder that causes body to store excess iron in organs such as heart or liver. Distribution of iron, as well as copper, zinc and calcium, and chemical identity of iron in hemochromatosis liver and intestine were investigated by X-ray microprobe experiments, which consist of X-ray microscopy and micro-X-ray absorption fine structure. Our results show that iron concentration in hemochromatosis liver tissue is high, while much less Fe is found in intestinal tissue. Moreover, chemical identity of Fe in hemochromatosis liver can be identified. X-ray microprobe experiments allows for examining elemental distribution at an excellent spatial resolution. Moreover, chemical identity of element of interest can be obtained.

  4. Screening for Iron Overload: Lessons from the HEmochromatosis and IRon Overload Screening (HEIRS Study

    Directory of Open Access Journals (Sweden)

    Paul C Adams

    2009-01-01

    Full Text Available BACKGROUND: The HEmochromatosis and IRon Overload Screening (HEIRS Study provided data on a racially, ethnically and geographically diverse cohort of participants in North America screened from primary care populations.

  5. Preliminary investigation of bottlenose dolphins (Tursiops truncatus) for hfe gene-related hemochromatosis.

    Science.gov (United States)

    Phillips, Brianne E; Venn-Watson, Stephanie; Archer, Linda L; Nollens, Hendrik H; Wellehan, James F X

    2014-10-01

    Hemochromatosis (iron storage disease) has been reported in diverse mammals including bottlenose dolphins (Tursiops truncatus). The primary cause of excessive iron storage in humans is hereditary hemochromatosis. Most human hereditary hemochromatosis cases (up to 90%) are caused by a point mutation in the hfe gene, resulting in a C282Y substitution leading to iron accumulation. To evaluate the possibility of a hereditary hemochromatosis-like genetic predisposition in dolphins, we sequenced the bottlenose dolphin hfe gene, using reverse transcriptase-PCR and hfe primers designed from the dolphin genome, from liver of affected and healthy control dolphins. Sample size included two case animals and five control animals. Although isotype diversity was evident, no coding differences were identified in the hfe gene between any of the animals examined. Because our sample size was small, we cannot exclude the possibility that hemochromatosis in dolphins is due to a coding mutation in the hfe gene. Other potential causes of hemochromatosis, including mutations in different genes, diet, primary liver disease, and insulin resistance, should be evaluated.

  6. Management of human factors engineering-associated hemochromatosis: A 2015 update.

    Science.gov (United States)

    Sivakumar, Menaka; Powell, Lawrie W

    2016-03-18

    This review focuses on the management of iron metabolism and iron overload experienced in the hereditary condition, human factors engineering (HFE)-associated hemochromatosis. Hemochromatosis refers to a group of genetic diseases that result in iron overload; the major one globally is HFE-associated hemochromatosis. The evolution in understanding of the most common form of hereditary hemochromatosis, being the substation of cysteine to a tyrosine at position 282 in the HFE gene, has been extensively studied Novel mutations in both HFE and non-HFE genes have been indicated in this disease which hold significance in its application for the Asia-Pacific region. In conditions with iron overload, the storage of excess iron in various body tissues leads to complications and toxic damage. The most common presenting complaint for this disease is malaise, lethargy and other non-specific symptoms. In order to diagnose hereditary hemochromatosis, there are biochemical, imaging and genetic testing options. Currently, cascade screening of affected families is preferred over population-level screening. The mainstay of treatment is venesection and the appropriate approach to treatment has been consolidated over the years. Recently, the indications for venesection therapy of hemochromatosis have been challenged and are the subject of ongoing research.

  7. Management of human factors engineering-associated hemochromatosis: A 2015 update

    Institute of Scientific and Technical Information of China (English)

    Menaka; Sivakumar; Lawrie; W; Powell

    2016-01-01

    This review focuses on the management of iron metabolism and iron overload experienced in the hereditary condition, human factors engineering(HFE)-associated hemochromatosis. Hemochromatosis refers to a group of genetic diseases that result in iron overload; the major one globally is HFE-associated hemochromatosis. The evolution in understanding of the most common form of hereditary hemochromatosis, being the substation of cysteine to a tyrosine at position 282 in the HFE gene, has been extensively studied Novel mutations in both HFE and non-HFE genes have been indicated in this disease which hold significance in its application for the Asia-Pacific region. In conditions with iron overload, the storage of excess iron in various body tissues leads to complications and toxic damage. The most common presenting complaint for this disease is malaise, lethargy and other non-specific symptoms. In order to diagnose hereditary hemochromatosis, there are biochemical, imaging and genetic testing options. Currently, cascade screening of affected families is preferred over population-level screening. The mainstay of treatment is venesection and the appropriate approach to treatment has been consolidated over the years. Recently, the indications for venesection therapy of hemochromatosis have been challenged and are the subject of ongoing research.

  8. Amyloidosis, hemochromatosis, and atherosclerosis in a roseate flamingo (Phoenicopterus ruber).

    Science.gov (United States)

    Brayton, C

    1992-06-16

    An aged male roseate flamingo, in a private collection in the British Virgin Islands, was found acutely "down." After four days of supportive therapy, the flamingo succumbed. At necropsy gross lesions included emaciation; collapsed and thickened, yellow abdominal air sac; dark red liver, partially covered by friable yellow material; and a raised, intimal plaque in the aorta near the iliac trifurcation. Histologic examination revealed severe, diffuse, pyogranulomatous air sacculitis with associated locally extensive pleuroperitonitis/perihepatitis. Pansystemic, predominantly periarteriolar distribution of amyloid deposition was evident, as was massive intrahepatocellular accumulation of iron pigment (hemachromatosis/hemosiderosis). A locally extensive, nonobstructive, fibroatheromatous plaque was present in the distal aorta. Amyloidosis, hemochromatosis/hemosiderosis, and atherosclerosis have been recognized in Phoenicopteriformes and other marine or aquatic birds. Their pathogenesis and pathogenicity remain a matter of debate.

  9. Evidence for non-HFE linked hemochromatosis in Asian Indians

    Directory of Open Access Journals (Sweden)

    Panigrahi I

    2006-12-01

    Full Text Available BACKGROUND: Hereditary hemochromatosis is commonly due to two HFE1 (Histone Family E1 gene mutations - H63D and C282Y. Mutations in the Asian Indians are less well studied. AIMS: The aim of this preliminary study was to find out the prevalence of HFE gene mutations in nonviral liver cirrhosis patients. SETTINGS AND DESIGN: Unexplained liver cirrhosis cases with transferrin saturation> 45%, attending the gastroenterology clinic in the years 2004 and 2005 were subjects of the prospective study. Asymptomatic individuals with negative family history of hemolytic anemia or liver disease served as controls. MATERIALS AND METHODS: The clinical presentation was recorded in the patients. Transferrin saturation was estimated by standard colorimetric technique. The two common mutations in HFE1 gene and Y250X mutation of TFR (transferrin receptor gene were studied by polymerase chain reaction based methods. RESULTS: A majority of the cases were sporadic, but family history was positive in four patients. In one family with multiple affected members, there was clear evidence of autosomal dominant inheritance. Seven out of 31 (22.6% of unexplained cirrhosis cases were positive for mutations. One was homozygous for H63D. In healthy controls, prevalence was 8.1% (6/74. None of the patients or controls was positive for C282Y mutation of HFE1 or Y250X of TFR gene. CONCLUSIONS: Thus, in a number of cases of hemochromatosis in Indians, a gene with dominant inheritance may be involved in causation of the phenotype. The prevalence of HFE mutations in Indians is comparable to that reported from neighboring countries. It is worth studying other mutations in HFE gene and other iron overload genes in cryptogenic cirrhosis cases.

  10. Function of the hemochromatosis protein HFE: Lessons from animal models

    Institute of Scientific and Technical Information of China (English)

    Kostas Pantopoulos

    2008-01-01

    Hereditary hemochromatosis (HH) is caused by chronic hyperabsorption of dietary iron. Progressive accumulation of excess iron within tissue parenchymal cells may lead to severe organ damage. The most prevalent type of HH is linked to mutations in the HFE gene, encoding an atypical major histocompatibility complex class Ⅰ molecule. Shortly after its discovery in 1996, the hemochromatosis protein HFE was shown to physically interact with transferrin receptor 1 (TfR1)and impair the uptake of transferrin-bound iron in cells. However, these findings provided no clue why /-/FE mutations associate with systemic iron overload.It was later established that all forms of HH result from misregulation of hepcidin expression. This liverderived circulating peptide hormone controls iron efflux from duodenal enterocytes and reticuloendothelial macrophages by promoting the degradation of the iron exporter ferroportin. Recent studies with animal models of HH uncover a crucial role of HFE as a hepatocyte iron sensor and upstream regulator of helpcidin. Thus,hepatocyte HFE is indispensable for signaling to hepcidin, presumably as a constituent of a larger ironsensing complex. A working model postulates that the signaling activity of HFE is silenced when the protein is bound to TfR1. An increase in the iron saturation of plasma transferrin leads to displacement of TfR1 from HFE and assembly of the putative iron-sensing complex.In this way, iron uptake by the hepatocyte is translated into upregulation of hepcidin, reinforcing the concept that the liver is the major regulatory site for systemic iron homeostasis, and not merely an iron storage depot.

  11. Hemochromatosis (HFE gene mutations in Brazilian chronic hemodialysis patients

    Directory of Open Access Journals (Sweden)

    F.V. Perícole

    2005-09-01

    Full Text Available Patients with chronic renal insufficiency (CRI have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the association of hemochromatosis with treatment for anemia among patients with CRI has not been well described. We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individuals with CRI undergoing hemodialysis. The analysis of the effects of HFE mutations on iron metabolism and anemia with biochemical parameters was possible in 118 patients of this study (hemoglobin, hematocrit, ferritin levels, transferrin saturation, and serum iron. A C282Y heterozygous mutation was found in 7/201 (3.4% and H63D homozygous and heterozygous mutation were found in 2/201 (1.0% and 46/201 (22.9%, respectively. The allelic frequencies of the HFE mutations (0.017 for C282Y mutation and 0.124 for H63D mutation did not differ between patients with CRI and healthy controls. Regarding the biochemical parameters, no differences were observed between HFE heterozygous and mutation-negative patients, although ferritin levels were not higher among patients with the H63D mutation (P = 0.08. From what we observed in our study, C282Y/H63D HFE gene mutations are not related to degrees of anemia or iron stores in CRI patients receiving intravenous iron supplementation (P > 0.10. Nevertheless, the present data suggest that the H63D mutation may have an important function as a modulating factor of iron overload in these patients.

  12. Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis : The HEmochromatosis FAmily Study

    NARCIS (Netherlands)

    Jacobs, Esther M. G.; Hendriks, Jan C. M.; van Deursen, Cees Th. B. M.; Kreeftenberg, Herman G.; de Vries, Richard A.; Marx, Joannes J. M.; Stalenhoef, Anton F. H.; Verbeek, Andre L. M.; Swinkels, Dorine W.

    2009-01-01

    Background/Aims: In families of patients with clinically detected hereditary hemochromatosis (HH) early screening has been suggested to prevent morbidity and mortality. Here, we aim to identify determinants for iron overload in first-degree family members of C282Y homozygous probands with clinically

  13. Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis: the HEmochromatosis FAmily Study.

    NARCIS (Netherlands)

    Jacobs, E.M.G.; Hendriks, J.C.M.; Deursen, C.T. van; Kreeftenberg, H.G.; Vries, R.A. de; Marx, J.J.M.; Stalenhoef, A.F.H.; Verbeek, A.L.M.; Swinkels, D.W.

    2009-01-01

    BACKGROUND/AIMS: In families of patients with clinically detected hereditary hemochromatosis (HH) early screening has been suggested to prevent morbidity and mortality. Here, we aim to identify determinants for iron overload in first-degree family members of C282Y homozygous probands with clinically

  14. Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis : The HEmochromatosis FAmily Study

    NARCIS (Netherlands)

    Jacobs, Esther M. G.; Hendriks, Jan C. M.; van Deursen, Cees Th. B. M.; Kreeftenberg, Herman G.; de Vries, Richard A.; Marx, Joannes J. M.; Stalenhoef, Anton F. H.; Verbeek, Andre L. M.; Swinkels, Dorine W.

    Background/Aims: In families of patients with clinically detected hereditary hemochromatosis (HH) early screening has been suggested to prevent morbidity and mortality. Here, we aim to identify determinants for iron overload in first-degree family members of C282Y homozygous probands with clinically

  15. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

    Science.gov (United States)

    Stiles, Ashlee R; Simon, Mariella T; Stover, Alexander; Eftekharian, Shaya; Khanlou, Negar; Wang, Hanlin L; Magaki, Shino; Lee, Hane; Partynski, Kate; Dorrani, Nagmeh; Chang, Richard; Martinez-Agosto, Julian A; Abdenur, Jose E

    2016-09-01

    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. Results of the liver biopsy in the proband revealed cirrhosis, micro- and macrovesicular steatosis, cholestasis and mitochondrial pleomorphism. Electron microscopy of muscle revealed abnormal mitochondrial morphology and distribution while enzyme histochemistry was underwhelming. Electron transport chain testing in muscle showed increased citrate synthase activity suggesting mitochondrial proliferation, while respiratory chain activities were at the lower end of normal. mtDNA content was reduced in liver and muscle (11% and 21% of normal controls respectively). While Tfam mRNA expression was upregulated in primary fibroblasts, Tfam protein level was significantly reduced. Furthermore, functional investigations of the mitochondria revealed reduced basal respiration and spare respiratory capacity, decreased mtDNA copy number and markedly reduced nucleoids. TFAM is essential for transcription, replication and packaging of mtDNA into nucleoids. Tfam knockout mice display embryonic lethality secondary to severe mtDNA depletion. In this report, for the first time, we associate a homozygous variant in TFAM with a novel mtDNA depletion syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Association of mutations in the hemochromatosis gene with shorter life expectancy

    DEFF Research Database (Denmark)

    Bathum, L; Christiansen, L; Nybo, H;

    2001-01-01

    BACKGROUND: To investigate whether the frequency of carriers of mutations in the HFE gene associated with hereditary hemochromatosis diminishes with age as an indication that HFE mutations are associated with increased mortality. It is of value in the debate concerning screening for hereditary...... hemochromatosis to determine the significance of heterozygosity. METHODS: Genotyping for mutations in exons 2 and 4 of the HFE gene using denaturing gradient gel electrophoresis in 1784 participants aged 45 to 100 years from 4 population-based studies: all 183 centenarians from the Danish Centenarian Study, 601...... heterozygotes for the C282Y mutation-the mutation most often associated with hereditary hemochromatosis-was found. This was significant for the whole population (P=.005) and for women (P=.004) but not for men (P=.26). A group of 599 participants was screened for mutations in exon 2, and there was no variation...

  17. Urinary excretion of biomarkers of oxidatively damaged DNA and RNA in hereditary hemochromatosis

    DEFF Research Database (Denmark)

    Broedbaek, Kasper; Poulsen, Henrik E; Weimann, Allan

    2009-01-01

    to measure the urinary excretion of oxidatively generated 8-oxo-7,8-dihydroguanine and related 2'-deoxyribonucleoside and ribonucleoside derivatives in hereditary hemochromatosis patients, and we investigated the effect of treatment on the levels of these modifications. The study was carried out......, and after phlebotomy treatment the excretion of the RNA oxidation product 8-oxoGuo returned to control values and the excretion of the DNA product 8-oxo-7,8-dihydro-2'-deoxyguanosine was reduced by 30%. In patients with hereditary hemochromatosis oxidative stress on nucleic acids is an important feature...

  18. Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening

    OpenAIRE

    Barton, James C.; Acton, Ronald T; Leiendecker-Foster, Catherine; Lovato, Laura; Adams, Paul C; Eckfeldt, John H.; Mclaren, Christine E.; Reiss, Jacob A.; McLaren, Gordon D; Reboussin, David M.; Gordeuk, Victor R.; Speechley, Mark R; Press, Richard D.; Dawkins, Fitzroy W.

    2008-01-01

    There are few descriptions of young adults with self-reported hemochromatosis or iron overload (H/IO). We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25–29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements; and HFE C282Y and H63D genotypes. We used denaturing high-pressure liquid chromatography and sequencing to detect mutations in HJV, TFR2, HAMP, SLC40A1,...

  19. Hip arthropathy in a patient with primary hemochromatosis: MR imaging findings with pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Papakonstantinou, Olympia [Veterans Affairs Medical Center, University of California, Department of Radiology, San Diego (United States); University Hospital of Heraklion, Department of Radiology, Heraklion, Crete (Greece); Mohana-Borges, Aurea V.R.; Campell, Loretta; Trudell, Debra; Resnick, Donald [Veterans Affairs Medical Center, University of California, Department of Radiology, San Diego (United States); Haghighi, Parviz [Veterans Affairs Medical Center, University of California, Department of Pathology, San Diego, California (United States)

    2005-03-01

    Arthropathy is a major clinical manifestation in primary hemochromatosis, typically affecting the metacarpophalangeal joints. Hip arthropathy is not uncommon, with radiologic features resembling osteoarthritis or calcium pyrophosphate dihydrate (CPPD) crystal deposition disease. We describe the MR imaging findings of the hip in a patient with severe hip arthropathy and primary hemochromatosis and correlate them with the histopathologic findings. MR imaging showed severe degenerative changes, with large subchondral cysts and subchondral sclerosis in the femoral head and acetabulum. There was conspicuous correlation between MR imaging and pathologic findings of the resected femoral head. However, MR imaging failed to reveal intra-articular iron. (orig.)

  20. Recent advances in hemochromatosis: a 2015 update : a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia.

    Science.gov (United States)

    Ekanayake, Dilum; Roddick, Clinton; Powell, Lawrie W

    2015-04-01

    This review focuses on iron metabolism, the genetics of hemochromatosis, current treatment protocols and various screening methods. Even though the most common form of hereditary hemochromatosis, C282Y gene mutations in the HFE gene, has been extensively studied, novel mutations in both HFE and non-HFE genes have been implicated in this disease. These have important implications for the Asia-Pacific region. In overload, deposition of iron in various body tissues leads to toxic damage. Patients commonly present with non-specific symptoms of malaise and lethargy. Biochemical, imaging and genetic testing can be carried out to confirm diagnosis. Venesection forms the mainstay of treatment and at present cascade screening of affected families is recommended over population-level screening.

  1. Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilbert's syndrome.

    Science.gov (United States)

    Wang, Xianbo; Liu, Yanmin; Chang, Yujuan; Liu, Huimin; Wang, Peng

    2014-09-28

    Gilbert's syndrome and hereditary hemochromatosis predominantly affect Caucasians with a low incidence in Asians. Here we report the case of a 16-year-old Chinese boy, who was admitted with hepatalgia, jaundice, hyperpigmentation, and splenomegaly to our hospital. After excluding chronic hepatitis, autoimmune disorders, and alcohol or drug injury, genetic analyses of the patient and his parents revealed simultaneous manifestations of Gilbert's syndrome and hereditary hemochromatosis, though his parents did not develop related symptoms. The presented case indicates that diagnoses of Gilbert's syndrome and hereditary hemochromatosis should be taken into consideration when chronic hepatitis is suspected without a clear etiology.

  2. Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic review

    NARCIS (Netherlands)

    Moretti, D.; Doorn, van G.M.; Swinkels, D.W.; Boonstra, A.

    2013-01-01

    Background: Hereditary hemochromatosis (HH) leads to iron loading because of a disturbance in the negative-feedback mechanism between dietary iron absorption and iron status. The management of HH is achieved by repeated phlebotomies. Objective: We investigated whether HH patients would benefit from

  3. Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic review

    NARCIS (Netherlands)

    Moretti, D.; Doorn, van G.M.; Swinkels, D.W.; Boonstra, A.

    2013-01-01

    Background: Hereditary hemochromatosis (HH) leads to iron loading because of a disturbance in the negative-feedback mechanism between dietary iron absorption and iron status. The management of HH is achieved by repeated phlebotomies. Objective: We investigated whether HH patients would benefit from

  4. Restriction mapping of a YAC contig in the hemochromatosis gene region

    Energy Technology Data Exchange (ETDEWEB)

    Burt, M.J.; Smit, D.J.; Pyper, W.R. [Univ. of Queensland, Brisbane (Australia)

    1994-09-01

    Hemochromatosis is a common inherited disorder of iron metabolism that can lead to cirrhosis, hepatocellular carcinoma, cardiomyopathy, diabetes and anthropathy. We have mapped the hemochromatosis gene to within 1 cM of HLA-A and the microsatellite D6S105, and our allele association studies have shown that D6S105 is the marker most closely associated with the hemochromatosis gene. We are currently constructing a YAC contig and restriction map of this region as part of a positional cloning strategy to identify the hemochromatosis gene. YACs containing HLA-A or D6S105 were selected, and fluorescent-in-situ-hybridization (FISH) was performed to confirm chromosomal location and exclude chimerism. YAC DNA was digested with a panel of rare cutters, separated by pulsed field gel electrophoresis, Southern blotted and probed with the vector arms to create restriction maps. YAC insert terminal ends were isolated using vectorette methodology. A contig extending 600 kb centromeric and 350 kb telomeric of HLA-A has been established. HLA-A, HLA-F and the microsatellite D6S265 have been positioned on this map. The contig does not yet overlap any D6S105 positive YACs but the telomeric end of the contig has been sequenced and is being used to identify additional YACs to bridge this interval. Restriction mapping of three D6S105 YACs has shown the presence of several CpG islands in this region. As these CpG islands are in close proximity to D6S105, they are being used to isolate coding sequences to determine whether any of these mark the position of the hemochromatosis gene.

  5. Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin.

    Science.gov (United States)

    Pietrangelo, Antonello

    2015-10-01

    The discovery of hepcidin in 2000 and the subsequent unprecedented explosion of research and discoveries in the iron field have dramatically changed our understanding of human disorders of iron metabolism. Today, hereditary hemochromatosis, the paradigmatic iron-loading disorder, is recognized as an endocrine disease due to the genetic loss of hepcidin, the iron hormone produced by the liver. This syndrome is due to unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs. It is caused by mutations that affect any of the proteins that help hepcidin to monitor serum iron, including HFE and, in rarer instances, transferrin-receptor 2 and hemojuvelin, or make its receptor ferroportin, resistant to the hormone. In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis; complete organ disease develops in a minority, due to alcohol abuse or concurrent genetic modifiers that are now being identified. HFE gene testing can be used to diagnose hemochromatosis in symptomatic patients, but analyses of liver histology and full gene sequencing are required to identify patients with rare, non-HFE forms of the disease. Due to the central pathogenic role of hepcidin, it is anticipated that nongenetic causes of hepcidin loss (eg, end-stage liver disease) can cause acquired forms of hemochromatosis. The mainstay of hemochromatosis management is still removal of iron by phlebotomy, first introduced in 1950s, but identification of hepcidin has not only shed new light on the pathogenesis of the disease and the approach to diagnosis, but etiologic therapeutic applications from these advances are now foreseen.

  6. 探究双管鼻塞式CPAP对新生儿呼吸衰竭的治疗效果观察%To explore two pipe blocked nose type CPAP therapeutic effect observation of neonatal respiratory failure

    Institute of Scientific and Technical Information of China (English)

    陈鹏

    2014-01-01

    ObjectiveTo explore the double tube block type CPAP therapeutic effect observation of neonatal respiratory failure.MethodsFrom April 2013 to January 2014, the selection of our new pediatric in 46 patients with respiratory failure of nasal congestion using double tube CPAP treatment, observation of treatment before and after 24 h of blood gas index.Results The patients with neonatal respiratory failure after two pipe blocked nose type CPAP treatment before and after the blood gas index, pH, PaO2, SaO2 were signiifcantly increased (P < 0.05), and PaCO2 dropped signiifcantly (P < 0.05), the more close to normal.ConclusionDouble tube nasal CPAP type has a good effect in the treatment of neonatal respiratory failure, is worth further promotion in the clinical practice.%目的:探究双管闭塞式CPAP对新生儿呼吸衰竭的治疗效果观察。方法从2013年4月到2014年1月,选取我院新生儿科的46例呼吸衰竭患者使用双管鼻塞式CPAP进行治疗,观察治疗前和治疗24h后的血气指标状况。结果新生儿呼吸衰竭患者在经过双管鼻塞式CPAP治疗前后的血气指标比较,pH、PaO2以及SaO2均有明显升高(P<0.05), PaCO2显著下降(P<0.05),更接近正常水平。结论双管鼻塞式CPAP在新生儿呼吸衰竭的治疗中疗效显著,结构简单方便,治疗价格低廉,值得临床进一步推广。

  7. Increased risk of death from iron overload among 422 treated probands with HFE hemochromatosis and serum levels of ferritin greater than 1000 μg/L at diagnosis.

    Science.gov (United States)

    Barton, James C; Barton, J Clayborn; Acton, Ronald T; So, Jeffrey; Chan, Susanne; Adams, Paul C

    2012-04-01

    We investigated the risk of death from iron overload among treated hemochromatosis probands who were homozygous for HFE C282Y and had serum levels of ferritin greater than 1000 μg/L at diagnosis. We compared serum levels of ferritin at diagnosis and other conditions with the rate of iron overload-associated death using data from 2 cohorts of probands with hemochromatosis who were homozygous for HFE C282Y (an Alabama cohort, n = 294, 63.9% men and an Ontario cohort, n = 128, 68.8% men). We defined iron overload-associated causes of death as cirrhosis (including hepatic failure and primary liver cancer) caused by iron deposition and cardiomyopathy caused by myocardial siderosis. All probands received phlebotomy and other appropriate therapy. The mean survival times after diagnosis were 13.2 ± 7.3 y and 12.5 ± 8.3 y in Alabama and Ontario probands, respectively. Serum levels of ferritin greater than 1000 μg/L at diagnosis were observed in 30.1% and 47.7% of Alabama and Ontario probands, respectively. In logistic regressions of serum ferritin greater than 1000 μg/L, there were significant positive associations with male sex and cirrhosis in Alabama probands and with age, male sex, increased levels of alanine and aspartate aminotransferases, and cirrhosis in Ontario probands. Of probands with serum levels of ferritin greater than 1000 μg/L at diagnosis, 17.9% of those from Alabama and 14.8% of those from Ontario died of iron overload. Among probands with serum levels of ferritin greater than 1000 μg/L, the relative risk of iron overload-associated death was 5.4 for the Alabama group (95% confidence interval [CI], 2.2-13.1; P = .0002) and 4.9 for the Ontario group (95% CI, 1.1-22.0; P = .0359). In hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin greater than 1000 μg/L at diagnosis were positively associated with male sex and cirrhosis. Even with treatment, the relative risk of death from iron overload was 5-fold greater in probands with

  8. What Are the Signs and Symptoms of Hemochromatosis?

    Science.gov (United States)

    ... Who Is At Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Anemia Arrhythmia Blood Transfusion Heart Failure Thalassemias Send a link to NHLBI to someone by ...

  9. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

    Science.gov (United States)

    Callebaut, Isabelle; Joubrel, Rozenn; Pissard, Serge; Kannengiesser, Caroline; Gérolami, Victoria; Ged, Cécile; Cadet, Estelle; Cartault, François; Ka, Chandran; Gourlaouen, Isabelle; Gourhant, Lénaick; Oudin, Claire; Goossens, Michel; Grandchamp, Bernard; De Verneuil, Hubert; Rochette, Jacques; Férec, Claude; Le Gac, Gérald

    2014-09-01

    Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1). SLC40A1 mutations fall into two functional categories (loss- versus gain-of-function) underlying two distinct clinical entities (hemochromatosis type 4A versus type 4B). However, the vast majority of SLC40A1 mutations are rare missense variations, with only a few showing strong evidence of causality. The present study reports the results of an integrated approach collecting genetic and phenotypic data from 44 suspected hemochromatosis type 4 patients, with comprehensive structural and functional annotations. Causality was demonstrated for 10 missense variants, showing a clear dichotomy between the two hemochromatosis type 4 subtypes. Two subgroups of loss-of-function mutations were distinguished: one impairing cell-surface expression and one altering only iron egress. Additionally, a new gain-of-function mutation was identified, and the degradation of ferroportin on hepcidin binding was shown to probably depend on the integrity of a large extracellular loop outside of the hepcidin-binding domain. Eight further missense variations, on the other hand, were shown to have no discernible effects at either protein or RNA level; these were found in apparently isolated patients and were associated with a less severe phenotype. The present findings illustrate the importance of combining in silico and biochemical approaches to fully distinguish pathogenic SLC40A1 mutations from benign variants. This has profound implications for patient management.

  10. Model of reticuloendothelial iron metabolism in humans: Abnormal behavior in idiopathic hemochromatosis and in inflammation

    Energy Technology Data Exchange (ETDEWEB)

    Fillet, G.; Beguin, Y.; Baldelli, L. (Univ. of Liege (Belgium))

    1989-08-01

    Iron transport in the reticuloendothelial (RE) system plays a central role in iron metabolism, but its regulation has not been characterized physiologically in vivo in humans. In particular, why serum iron is elevated and RE cells are much less iron-loaded than parenchymal cells in idiopathic hemochromatosis is not known. The processing of erythrocyte iron by the RE system was studied after intravenous (IV) injection of 59Fe heat-damaged RBCs (HDRBCs) and 55Fe transferrin in normal subjects and in patients with iron deficiency, idiopathic hemochromatosis, inflammation, marrow aplasia, or hyperplastic erythropoiesis. Early release of 59Fe by the RE system was calculated from the plasma iron turnover and the 59Fe plasma reappearance curve. Late release was calculated from the ratio of 59Fe/55Fe RBC utilization in 2 weeks. The partitioning of iron between the early (release from heme catabolism) and late (release from RE stores) phases depended on the size of RE iron stores, as illustrated by the inverse relationship observed between early release and plasma ferritin (P less than .001). There was a strong correlation between early release and the rate of change of serum iron levels during the first three hours in normal subjects (r = .85, P less than .001). Inflammation produced a blockade of the early release phase, whereas in idiopathic hemochromatosis early release was considerably increased as compared with subjects with similar iron stores. Based on these results, we describe a model of RE iron metabolism in humans. We conclude that the RE system appears to determine the diurnal fluctuations in serum iron levels through variations in the immediate output of heme iron. In idiopathic hemochromatosis, a defect of the RE cell in withholding iron freed from hemoglobin could be responsible for the high serum iron levels and low RE iron stores.

  11. Analysis of hemochromatosis gene mutations in 52 consecutive patients with polycythemia vera.

    Science.gov (United States)

    Franchini, Massimo; de Matteis, Giovanna; Federici, Francesca; Solero, Pietro; Veneri, Dino

    2004-01-01

    A literature review reports increased erythrocyte indices [hemoglobin concentration, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin (MCH), MCH concentration] in subjects with hereditary hemochromatosis (HH). We, therefore, screened 52 consecutive patients with polycythemia vera for 12 HH gene mutations, comparing iron status and red cell parameters between patients positive or negative for HH gene mutations. Our results support the evidence that there is no association between these two conditions.

  12. Neonatal anemia.

    Science.gov (United States)

    Aher, Sanjay; Malwatkar, Kedar; Kadam, Sandeep

    2008-08-01

    Neonatal anemia and the need for red blood cell (RBC) transfusions are very common in neonatal intensive care units. Neonatal anemia can be due to blood loss, decreased RBC production, or increased destruction of erythrocytes. Physiologic anemia of the newborn and anemia of prematurity are the two most common causes of anemia in neonates. Phlebotomy losses result in much of the anemia seen in extremely low birthweight infants (ELBW). Accepting a lower threshold level for transfusion in ELBW infants can prevent these infants being exposed to multiple donors.

  13. Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.

    Science.gov (United States)

    Kucinskas, Laimutis; Juzenas, Simonas; Sventoraityte, Jurgita; Cedaviciute, Ruta; Vitkauskiene, Astra; Kalibatas, Vytenis; Kondrackiene, Jurate; Kupcinskas, Limas

    2012-04-01

    HFE-hemochromatosis is a common autosomal recessive disease caused by HFE gene mutations and characterized as iron overload and failure of different organs. The aim of this study was to determine the prevalence of C282Y (c.845 G>A), H63D (c.187 C>G), and S65C (c.193A>T) alleles of HFE gene in the Lithuanian population. One thousand and eleven healthy blood donors of Lithuanian nationality were examined in four different ethnic Lithuanian regions to determine HFE gene alleles and genotype frequencies. The samples of DNA were analyzed for the presence of restriction fragment length polymorphism and validated by DNA sequencing. Among 1,011 blood donors tested, the frequency of C282Y, H63D, and S65C alleles were 2.6%, 15.9%, and 1.9%, respectively. One third of the tested subjects (n = 336) had at least one of the C282Y or H63D HFE gene mutations. The screening of Lithuanian blood donors has detected 13 (1.3%) subjects with a genotype C282Y/C282Y or C282Y/H63D responsible for the development of HFE-hemochromatosis. The prevalence of C282Y mutation was significantly higher among the inhabitants of Zemaitija (Somogitia) at the Baltic Sea area (5.9%) in comparison to the regions of continental part of Lithuania (2.4% in Dzukija, 2.3% in Aukstaitija, and 2% in Suvalkija, p Vikings along the Baltic Sea coast. The first epidemiological investigation of HFE gene mutations in ethnic Lithuanians showed that the frequencies of H63D, C282Y, and S65C of HFE gene alleles are similar to the other North-Eastern Europeans, especially in the Baltic region (Estonia, Latvia), Poland, and part of Russia (Moscow region).

  14. Observation and Nursing of Two Patients with Hemochromatosis%2例血色病患者的观察与护理体会

    Institute of Scientific and Technical Information of China (English)

    梅瑜

    2015-01-01

    ABSTRACT:Objective:To summarize the nursing experience and the countermeasures of patients with hemochromatosis. Methods: Two patients who were diagnosed with hemochromatosis and treated in our hospital were implemented with meticulous nursing, mainly including the observation of the patients’ vital signs, psychological nursing, the observation of the state-variation of patients and diet nursing. Results:The two patients were all recovered well, with their diseases under control, their heart failure symptoms alleviated, emotional stability and cooperation with our treatment. Conclusion:Meticulous nursing should be carried out with patients during the course of treatment so as to speed up the recovery of their disease.%目的:总结血色病患者的护理经验及对策。方法对我院收治的2例血色病患者给予周到精心的护理,主要包括观察患者的生命体征、心理护理、观察病情变化以及饮食护理等。结果2例患者均恢复良好,病情得以控制,心衰症状减轻,情绪稳定,配合治疗。结论针对血色病患者在治疗的过程中应配以严密的护理措施,从而加快疾病的恢复。

  15. Reducing TMPRSS6 ameliorates hemochromatosis and β-thalassemia in mice.

    Science.gov (United States)

    Guo, Shuling; Casu, Carla; Gardenghi, Sara; Booten, Sheri; Aghajan, Mariam; Peralta, Raechel; Watt, Andy; Freier, Sue; Monia, Brett P; Rivella, Stefano

    2013-04-01

    β-Thalassemia and HFE-related hemochromatosis are 2 of the most frequently inherited disorders worldwide. Both disorders are characterized by low levels of hepcidin (HAMP), the hormone that regulates iron absorption. As a consequence, patients affected by these disorders exhibit iron overload, which is the main cause of morbidity and mortality. HAMP expression is controlled by activation of the SMAD1,5,8/SMAD4 complex. TMPRSS6 is a serine protease that reduces SMAD activation and blocks HAMP expression. We identified second generation antisense oligonucleotides (ASOs) targeting mouse Tmprss6. ASO treatment in mice affected by hemochromatosis (Hfe(-/-)) significantly decreased serum iron, transferrin saturation and liver iron accumulation. Furthermore, ASO treatment of mice affected by β-thalassemia (HBB(th3/+) mice, referred to hereafter as th3/+ mice) decreased the formation of insoluble membrane-bound globins, ROS, and apoptosis, and improved anemia. These animals also exhibited lower erythropoietin levels, a significant amelioration of ineffective erythropoiesis (IE) and splenomegaly, and an increase in total hemoglobin levels. These data suggest that ASOs targeting Tmprss6 could be beneficial in individuals with hemochromatosis, β-thalassemia, and related disorders.

  16. Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis.

    Science.gov (United States)

    Yun, Seongseok; Vincelette, Nicole D

    2015-07-01

    Iron is an essential component of erythropoiesis and its metabolism is tightly regulated by a variety of internal and external cues including iron storage, tissue hypoxia, inflammation and degree of erythropoiesis. There has been remarkable improvement in our understanding of the molecular mechanisms of iron metabolism past decades. The classical model of iron metabolism with iron response element/iron response protein (IRE/IRP) is now extended to include hepcidin model. Endogenous and exogenous signals funnel down to hepcidin via wide range of signaling pathways including Janus Kinase/Signal Transducer and Activator of Transcription 3 (JAK/STAT3), Bone Morphogenetic Protein/Hemojuvelin/Mothers Against Decapentaplegic Homolog (BMP/HJV/SMAD), and Von Hippel Lindau/Hypoxia-inducible factor/Erythropoietin (VHL/HIF/EPO), then relay to ferroportin, which directly regulates intra- and extracellular iron levels. The successful molecular delineation of iron metabolism further enhanced our understanding of common genetic and acquired disorder, hemochromatosis. The majority of the hereditary hemochromatosis (HH) patients are now shown to have mutations in the genes coding either upstream or downstream proteins of hepcidin, resulting in iron overload. The update on hepcidin centered mechanisms of iron metabolism and their clinical perspective in hemochromatosis will be discussed in this review.

  17. 机械通气治疗新生儿呼吸衰竭43例的临床观察%Clinical Analysis of Mechanical Ventilation in 43 Neonates with Respiratory Failure

    Institute of Scientific and Technical Information of China (English)

    吴琪; 武荣; 金桂红; 熊言佳; 周海燕

    2011-01-01

    Objective To investigate the effects mechanical ventilation on neonatal respiratory failure. Methods The mechanical ventilation were performed in 43 neonates with respiratory failure, in which there were 11 cases of severe asphyxia, 17 cases of pneumonia,5 cases of intracranial hemorrhages ,8 cases of hyaline membrane disease, 10 cases of meconium aspiration syndrome (MAS) ,1 case of severe hypoxic-ischemic encephalopathy,1 case of frequent apnea,4 cases of congenital heart disease,3 cases of septicaemia with circulatory failure. The mechanical ventilation mode and parameters were adjusted according to the characteristics and conditions of specific diseases. Results The successful rescue were carried out in 32 of 43 neonates(74.4% ) ,8 cases gave up( 18.6% ) ,and 3 cases died. There were 11 cases of ventilator-associated pneumonia,8 cases with positive results in the culture of trachea secretion. In the 8 abandoned cases( most from economic reason) were MAS or low birth weight new born that could be very possibly cured. Conclusion The skillful operation of mechanical, proper setting of mode and parameter, timely and proper use of mechanical ventilation, low PEEP and PIP,short ventilation duration, strict aseptic technique and infection prevention should significantly improve the survival rate of neonates with respiratory failure.%目的 观察机械通气治疗新生儿呼吸衰竭的效果.方法 对43例符合新生儿呼吸衰竭的患儿给予机械通气,重度窒息11例,肺炎17例,颅内出血5例,肺透明膜病8例,胎粪吸入综合症10例,重度缺氧缺血脑病1例,频繁呼吸暂停1例,先天性心脏病4例,败血症伴循环衰竭3例.根据具体疾病的特点和病情变化选择合适的通气模式和参数.结果 抢救成功32例(74.4%),放弃8例(18.6%),死亡3例(6.98%).机械通气并发呼吸机相关性肺炎11例.8例次气管分泌物培养阳性.放弃的8例中,其中4例(因经济等原因)系MAS、低出生体重儿

  18. Predicting C282Y Homozygote Genotype for Hemochromatosis Using Serum Ferritin and Transferrin Saturation Values from 44,809 Participants of the HEIRS Study

    Directory of Open Access Journals (Sweden)

    Andrew Lim

    2014-01-01

    Full Text Available INTRODUCTION: The simultaneous interpretation of serum ferritin level and transferrin saturation has been used as a clinical guide to diagnose genetic hemochromatosis. The Hemochromatosis and Iron Overload Screening (HEIRS Study screened 101,168 North American participants for serum ferritin level and transferrin saturation, and C282Y genotyping for the HFE gene.

  19. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis.

    Science.gov (United States)

    Hattori, Ai; Wakusawa, Shinnya; Hayashi, Hisao; Harashima, Ai; Sanae, Fujiko; Kawanaka, Miwa; Yamada, Gohtaro; Yano, Motoyashi; Yoshioka, Kenntaro

    2003-06-01

    The majority of Caucasian patients with hemochromatosis are homozygous for C282Y mutation of the HFE gene. In contrast to its high prevalence in Caucasians, hemochromatosis is a rare disorder in Japan. This may be due to the low prevalence of the C282Y mutation of the HFE gene in Japanese. Recent reports suggest that the mutations of transferrin receptor 2 (TfR2) gene may be involved in non-HFE hemochromatosis. Therefore, we investigated the TfR2 gene of 6 sporadic and 5 familiar cases of Japanese hemochromatosis. Three siblings in one family were found to be homozygous for an AVAQ 594-597 deletion. All three had severe iron deposits in the hepatocytes and bile ducts, but none was affected by diabetes mellitus. This mutation was not detected in 100 control individuals. Further study was undertaken to investigate whether the large deletion of the TfR2 gene is the mutation responsible for some of the Japanese hemochromatosis cases.

  20. Visão atual da hemocromatose hereditária Current approach to hereditary hemochromatosis

    Directory of Open Access Journals (Sweden)

    Rodolfo Delfini Cançado

    2010-01-01

    Full Text Available A hemocromatose hereditária (HH está relacionada a diversos distúrbios do metabolismo do ferro que ocasionam sua sobrecarga tecidual. A HH clássica está associada às mutações do gene HFE (homozigose para C282Y ou duplo heterozigose para C282Y/H63D, sendo encontrada quase exclusivamente em descendentes do norte Europeu. A hemocromatose hereditária, quando não relacionada ao gene HFE, é causada por mutações de outros genes, recentemente identificados, envolvidos no metabolismo do ferro. Hepcedina é o hormônio regulador do ferro que inibe a ferroportina, proteína exportadora de ferro dos enterócitos e dos macrófagos; um defeito na expressão do gene da hepcedina ou na sua função costuma ser a causa da maioria dos tipos de hemocromatose hereditária. Os alvos acometidos pela HH são órgãos e tecidos - fígado, coração, pâncreas, articulações e pele -, sendo a cirrose e o diabetes melito os sinais tardios da doença em pacientes com expressivo aumento da concentração hepática de ferro. Pacientes com diagnóstico estabelecido de hemocromatose hereditária e sobrecarga de ferro devem ser tratados com flebotomia para a obtenção de depleção do ferro do organismo; em seguida, com flebotomia de manutenção. As causas mais frequentes de morte por hemocromatose hereditária são câncer hepático, cirrose, miocardiopatia e diabete; entretanto, pacientes submetidos à depleção do ferro de maneira satisfatória e antes do desenvolvimento da cirrose ou da diabete podem ter sobrevida normal.Hereditary hemochromatosis refers to several inherited disorders of the iron metabolism that lead to tissue iron overload. Classical hereditary hemochromatosis is associated with mutations of the HFE gene (C282Y homozygotes or C282Y/H63D compound heterozygotes and is almost exclusively found in populations of northern European descent. Non-HFE-associated hereditary hemochromatosis is caused by mutations in other recently identified genes

  1. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

    Science.gov (United States)

    Leslie, Nancy; Wang, Xinjian; Peng, Yanyan; Valencia, C Alexander; Khuchua, Zaza; Hata, Jessica; Witte, David; Huang, Taosheng; Bove, Kevin E

    2016-03-01

    Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and mitochondrial DNA genes miscode for complex I subunits or assembly factors. ACAD9 is an acyl-CoA dehydrogenase with a novel function in assembly of complex I; biallelic mutations cause progressive encephalomyopathy, recurrent Reye syndrome, and fatal cardiomyopathy. We describe the first autopsy in fatal neonatal lethal lactic acidosis due to mutations in ACAD9 that reduced complex I activity. We identified mitochondrial hyperplasia in cardiac myocytes, diaphragm muscle, and liver and renal tubules in formalin-fixed, paraffin-embedded tissue using immunohistochemistry for mitochondrial antigens. Whole-exome sequencing revealed compound heterozygous variants in the ACAD9 gene: c.187G>T (p.E63*) and c.941T>C (p.L314P). The nonsense mutation causes late infantile lethality; the missense variant is novel. Autopsy-derived fibroblasts had reduced complex I activity (53% of control) with normal activity in complexes II to IV, similar to reported cases of ACAD9 deficiency.

  2. Effect of high-frequency oscillatory ventilation for treatment of respiratory failure in neonates%高频振荡通气治疗新生儿呼吸衰竭疗效观察

    Institute of Scientific and Technical Information of China (English)

    邱其周; 肖毅; 刘仁红; 杨梦雅; 史学凯; 吴时光

    2013-01-01

    目的 探讨高频振荡通气(HFOV)治疗新生儿呼吸衰竭的疗效及安全性.方法 分析HFOV和常频机械通气(CMV)对45例呼吸衰竭新生儿的治疗效果,对比分析两种通气方式对患儿的肺通气氧合功能及并发症的差异.结果 两组患儿二氧化碳分压(PaCO2)、吸入氧浓度(FiO2)、氧合指数(OI)、动脉/肺泡氧分压比值(PaO2/PAO2)在机械通气0h比较,差异无统计学意义(P>0.05);HFOV组治疗后1、6、12、24、48 h PaCO2、FiO2、OI低于CMV组,PaO2/PAO2高于CMV组,差异有统计学意义(P<0.05或P<0.01);HFOV组气胸、慢性肺部疾病的发生率低于CMV组(P<0.05),两组颅内出血的发生率差异无统计学意义(P >0.05).结论 HFOV治疗新生儿呼吸衰竭安全、有效,并能更好、更快地改善呼吸衰竭患儿的肺通气氧合功能.%Objective To investigate the efficacy and safety of high-frequency oscillatory ventilation (HFOV) for treatment of respiratory failure in neonates.Methods The clinical effect for the treatment of respiratory failure was retrospectively evaluated in 22 neonates with HFOV and 23 neonates with conventional mechanical ventilation (CMV)by comparing the oxygenate function and complications.Results There were no statistical differences before treatment in the PaCO2,FiO2,OI,and PaO2/PAO2between two groups (P >0.05).PaCO2,FiO2,and OI were lower and PaO2/PAO2 was higher at 1,6,12,24,and 48 h after treatment in HFOV group compared to those in CMV group (P <0.05).The incidence of pneumothorax and chronic lung disease was lower in HFOV group compared to that in CMV group (P < 0.05).There were no statistical differences in the incidence of intracranial hemorrhage between two groups (P > 0.05).Conclusions HFOV may be relatively safe and effective for the treatment of respiratory failure in neonates.

  3. Tirosinemia neonatal Neonatal tyrosinemia

    Directory of Open Access Journals (Sweden)

    Rafael J. Manotas Cabarcas

    1995-04-01

    Full Text Available Mediante la técnica de Udenfriend y Cooper, se midieron los niveles de tirosina en la sangre del cordón de 26 prematuros y 31 niños de término, con el fin de comparar las concentraciones según la edad gestacional y detectar la presencia de la tirosinemia neonatal. Se encontró un caso de esta entidad en un niño de 31 semanas de edad gestacional, lo cual correspondió al 3.8% de los prematuros y al 1.8% del grupo total. La concentración de tirosina en el paciente fue de 53 JJ.M. El promedio de las concentraciones en los prematuros menores de 32 semanas fue de 16.8 :t 6.3 JJ.M; el de los niños entre 33 y 36 semanas fue de 19.3 :t 7.6 JJ.M y el de los niños de término, de 17.2 :t 9.4 JJ.M. Las pruebas estadísticas no mostraron tendencias ni diferencias significativas entre estas concentraciones. El promedio ponderado para el grupo total fue 17.7 :t 7.3 JJ.M. Se recomienda establecer programas de tamizaje para detectar este problema porque puede presentar repercusiones neurológicas posteriores.

    By means of the Udenfriend-Cooper technique, levels of tyrosine were measured in the cord blood of 26 preterm and 31 term Infants; the objective was to compare tyrosine concentrations according to gestational age and to detect the presence of neonatal tyrosinemia. A case of this disease was found In an Infant with 31 weeks of gestational age; this case represented 3.8% of preterm Infants and 1.8% of the total group. Average tyrosine concentration according to age was as follows: 16.8: ± 6.3  µM in Infants under 32 weeks of gestational age; 19.3: ±: 7.6 µM In those between 33 and 36 weeks and 17.2 : ±: 9.4 µM In the term Infants

  4. Neonatal trauma

    Energy Technology Data Exchange (ETDEWEB)

    Sorantin, Erich [Division of Pediatric Radiology, Department of Radiology, Medical University Graz, Auenbruggerplatz 9, A8036 Graz (Austria)]. E-mail: erich.sorantin@meduni-graz.at; Brader, Peter [Division of Pediatric Radiology, Department of Radiology, Medical University Graz, Auenbruggerplatz 9, A8036 Graz (Austria); Thimary, Felix [Division of Pediatric Radiology, Department of Radiology, Medical University Graz, Auenbruggerplatz 9, A8036 Graz (Austria)

    2006-11-15

    A variety of traumatic lesions can occur during the neonatal period. Some of those lesions are clearly birth injuries due to delivery and others are caused by necessary procedures during intensive care in critically ill neonates. As usual patient history must be known and knowledge about the typical complications is necessary in order to select the appropriate imaging modality and thus enabling correct interpretation of those investigations by the radiologist. The purpose of this article is to present typical neonatal injuries, describe the underlying pathomechanisms and aetiology as well as the imaging findings.

  5. Predictors of failure of awake regional anesthesia for neonatal hernia repair: data from the General Anesthesia compared to Spinal anesthesia (GAS) study: comparing apnoea and neurodevelopmental outcomes

    Science.gov (United States)

    Frawley, Geoff; Bell, Graham; Disma, Nicola; Withington, Davinia E.; de Graaff, Jurgen C.; Morton, Neil S.; McCann, Mary Ellen; Arnup, Sarah J.; Bagshaw, Oliver; Wolfler, Andrea; Bellinger, David; Davidson, Andrew J.

    2015-01-01

    Background Awake regional anesthesia (RA) is a viable alternative to general anesthesia (GA) for infants undergoing lower abdominal surgery. Benefits include lower incidence of postoperative apnea and avoidance of anesthetic agents that may increase neuroapoptosis and worsen neurocognitive outcomes. The General Anesthesia compared to Spinal anesthesia (GAS) study compares neurodevelopmental outcomes following awake RA or GA in otherwise healthy infants. Our aim was to describe success and failure rates of RA in this study and report factors associated with failure. Methods This was a nested cohort study within a prospective randomized, controlled, observer blind, equivalence trial. Seven hundred twenty two infants ≤ 60 weeks postmenstrual age, scheduled for herniorrhaphy under anesthesia were randomly assigned to receive RA (spinal, caudal epidural or combined spinal caudal anesthetic) or GA with sevoflurane. The data of 339 infants, where spinal or combined spinal caudal anesthetic was attempted, was analyzed. Possible predictors of failure were assessed including: patient factors, technique, experience of site and anesthetist and type of local anesthetic. Results RA was sufficient for the completion of surgery in 83.2% of patients. Spinal anesthesia was successful in 86.9% of cases and combined spinal caudal anesthetic in 76.1%. Thirty four patients required conversion to GA and an additional 23 (6.8%) required brief sedation. Bloody tap on the first attempt at lumbar puncture was the only risk factor significantly associated with block failure (OR = 2.46). Conclusions The failure rate of spinal anesthesia was low. Variability in application of combined spinal caudal anesthetic limited attempts to compare the success of this technique to spinal alone. PMID:26001028

  6. Predictors of Failure of Awake Regional Anesthesia for Neonatal Hernia Repair: Data from the General Anesthesia Compared to Spinal Anesthesia Study--Comparing Apnea and Neurodevelopmental Outcomes.

    Science.gov (United States)

    Frawley, Geoff; Bell, Graham; Disma, Nicola; Withington, Davinia E; de Graaff, Jurgen C; Morton, Neil S; McCann, Mary Ellen; Arnup, Sarah J; Bagshaw, Oliver; Wolfler, Andrea; Bellinger, David; Davidson, Andrew J

    2015-07-01

    Awake regional anesthesia (RA) is a viable alternative to general anesthesia (GA) for infants undergoing lower abdominal surgery. Benefits include lower incidence of postoperative apnea and avoidance of anesthetic agents that may increase neuroapoptosis and worsen neurocognitive outcomes. The General Anesthesia compared to Spinal anesthesia study compares neurodevelopmental outcomes after awake RA or GA in otherwise healthy infants. The aim of the study is to describe success and failure rates of RA and report factors associated with failure. This was a nested cohort study within a prospective, randomized, controlled, observer-blind, equivalence trial. Seven hundred twenty-two infants 60 weeks or less postmenstrual age scheduled for herniorrhaphy under anesthesia were randomly assigned to receive RA (spinal, caudal epidural, or combined spinal caudal anesthetic) or GA with sevoflurane. The data of 339 infants, where spinal or combined spinal caudal anesthetic was attempted, were analyzed. Possible predictors of failure were assessed including patient factors, technique, experience of site and anesthetist, and type of local anesthetic. RA was sufficient for the completion of surgery in 83.2% of patients. Spinal anesthesia was successful in 86.9% of cases and combined spinal caudal anesthetic in 76.1%. Thirty-four patients required conversion to GA, and an additional 23 patients (6.8%) required brief sedation. Bloody tap on the first attempt at lumbar puncture was the only risk factor significantly associated with block failure (odds ratio = 2.46). The failure rate of spinal anesthesia was low. Variability in application of combined spinal caudal anesthetic limited attempts to compare the success of this technique to spinal alone.

  7. 新生儿呼吸衰竭时气体交换障碍及临床评估%The clinical evaluation of gas exchange impairment in neonatal respiratory failure

    Institute of Scientific and Technical Information of China (English)

    王丹华; 万伟琳; 赵时敏

    2001-01-01

    目的探讨新生儿呼吸衰竭时发生气体交换障碍的机制。方法采用血气分析、动脉/肺泡氧分压比值(PaO2/PAO2)、肺分流分数(Qs/QT)、动脉氧分压与吸入氧浓度之比(PaO2/FiO2)、肺泡-动脉氧分压差(A-aDO2)、呼吸指数(RI)等多项指标,对1993~1997年在我科NICU应用呼吸机治疗的53例呼吸衰竭新生儿进行监测。结果轻度呼吸衰竭组(n=21)PaO2/PAO2比值>0.22,Qs/Qr为(11±3)%,PaO2/FiO2比值为(183±113),A-aDO2为(22.9±6.8)kPa,RI(2.5±0.8);重度呼吸衰竭组(n=32)PaO2/PAO2比值≤0.22,Qs/QT为(24±6)%,PaO2/FiO2比值为(82±30),A-aDO2为(49.3±17.8),RI为(7.6±3.4);两组间有非常显著性差异(P<0.001)。不同病因所致的呼吸衰竭其各项指标不同,以胎粪吸入组Qs/QT及A-aDO2最大,分别为(32±3)%和(69.8±12.2)kPa,PaO2/FiO2最低(77±39),RI最高(9.2±2.9)。治愈组(n=38)Qs/QT为(17±8)%,而死亡组(n=10)Qs/QT高达(24±6)%。结论应用这些指标对呼吸衰竭的新生儿进行临床评估,对认识病因、判断病情、指导治疗和估计预后有重要意义%Objective To study the clinical evaluation of gas exchange impairment in neonatal respiratory failure.Methods Blood gas, PaO2/PAO2, Qs/QT, PaO2/FiO2, A-aDO2 and RI of 53 newborn infants with respiratory failure in NICU of PUMCH from Jan. 1993 to Dec. 1997 were measured. Results These infants were divided into two groups according to PaO2/PAO2: moderate and severe respiratory failure. Qs/QT(11±3)%, PaO2/FiO2(183±113), A-aDO2(22.9±6.8)kPa, RI(2.5 ±0.8) in 21 neonates with moderate respiratory failure; Qs/QT(24±6)%, PaO2/FiO2 (82±30), A-aDO2 (49.3 ± 17.8)kPa,RI(7.6 ±3.4) in 32 neonates with severe respiratory failure(P<0.001). These results in respiratory failure caused by different pathogenesis were different. In meconium aspiration and pneumothorax group there were the highestQs/QT(32±3)% ,A-aDO2 (69.8 ± 12.2)kPa,RI(9.2 ±2.9)and the

  8. Correlation of liver density by magnetic resonance imaging and hepatic iron levels. A noninvasive means to exclude homozygous hemochromatosis.

    Science.gov (United States)

    Lawrence, S P; Caminer, S J; Yavorski, R T; Borosky, B D; Rak, K M; Merenich, J A; McDermott, M T; McNally, P R

    1996-09-01

    The diagnosis of hemochromatosis requires liver biopsy and the quantification of hepatic iron. Magnetic resonance imaging (MRI) of the liver shows a characteristic decrease in tissue signal intensity in iron overload states, but its role in the diagnosis of hemochromatosis has not been fully delineated. Forty-three patients (31 men and 12 women) were referred for the evaluation of hemochromatosis based upon a fasting transferrin saturation > 55% and/or a serum ferritin > 400 ng/ml in males or > 300 ng/ml in females. Each patient prospectively underwent MRI of the liver prior to percutaneous liver biopsy and quantitative hepatic iron determination. Homozygous hemochromatosis was diagnosed in 10 patients based upon an hepatic iron/age index > or = 2. MRI was performed with a 1.5 Tesla system using standard spin-echo sequences (T1; TR = 300-500 ms, TE = 13-17 ms, PD; TR = 2,000-2,600 ms, TE = 30 ms). Signal intensity values were blindly determined for regions of interest in liver and skeletal muscle at T1 and proton density. Ratios of liver to muscle (LM) for T1 and proton density (PD) calculated from these values showed a significant correlation with quantitative iron by multiple regression analysis. The LMPD ratio provided the best correlation with hepatic iron (r = -0.6946; p 0.5 had hepatic iron/age indices of < 2.0, thereby excluding homozygous hemochromatosis. These results suggest that LMPD ratios derived from MRI of the liver can accurately predict hepatic iron content. These ratios can be clinically useful in the evaluation of hemochromatosis among patients who either refuse or have contraindications to liver biopsy.

  9. Neonatal Jaundice

    DEFF Research Database (Denmark)

    Maimburg, Rikke Damkjær; Væth, Michael; Schendel, Diana

    2008-01-01

    .7]). No associations were found between infantile autism and low Apgar scores, acidosis or hypoglycaemia. Our findings suggest that hyperbilirubinaemia and neurological abnormalities in the neonatal period are important factors to consider when studying causes of infantile autism....

  10. Neonatal Death

    Science.gov (United States)

    ... a premature baby include pneumonia (a lung infection), sepsis (a blood infection) and meningitis (an infection in the fluid around the brain and spinal cord). What birth defects most often cause neonatal death? The most common birth defects that cause ...

  11. Deferasirox in patients with iron overload secondary to hereditary hemochromatosis: results of a 1-yr Phase 2 study.

    Science.gov (United States)

    Cançado, Rodolfo; Melo, Murilo R; de Moraes Bastos, Roberto; Santos, Paulo C J L; Guerra-Shinohara, Elivira M; Chiattone, Carlos; Ballas, Samir K

    2015-12-01

    This open-label, prospective, phase 2 study evaluated the safety and efficacy of deferasirox (10 ± 5 mg/kg/d) in patients with hereditary hemochromatosis (HH) and iron overload refractory to or intolerant of phlebotomy. Ten patients were enrolled and all completed the 12-month treatment period. There were significant decreases from baseline to end of study (i.e., 12 months) in median serum ferritin (P deferasirox was well tolerated and effective in reducing iron burden in patients with hereditary hemochromatosis and could be a safe alternative to phlebotomy in selected patients.

  12. Do All Hemochromatosis Patients Have the Same Origin? A Pilot Study of Mitochondrial DNA and Y-DNA

    Directory of Open Access Journals (Sweden)

    Caitlin J Symonette

    2011-01-01

    Full Text Available BACKGROUND: Mitochondrial DNA (mtDNA and Y-DNA analysis have been widely used to predict ancestral origin. Genetic anthropologists predict that human civilizations may have originated in central Africa one to two million years previously. Primary iron overload is not a common diagnosis among indigenous people of northern Africa, but hereditary hemochromatosis is present in approximately one in 200 people in northern Europe. MtDNA analysis has the potential to determine whether contemporary hemochromatosis patients have an ancient ancestral linkage.

  13. Hipótesis profesional de la Hemocromatosis Hemochromatosis, An occupational hypothesis

    Directory of Open Access Journals (Sweden)

    Juan José Sánchez Ayala

    2010-06-01

    Full Text Available Introducción: Presentamos dos casos de soldadores con diagnóstico de hemocromatosis en los cuales no se ha encontrado una causa específica de la misma. Los estudios genéticos para hemocromatosis hereditaria fueron negativos y no existían aportes externos de hierro, transfusiones, ni enfermedades que se han relacionado con las causas de hemocromatosis secundaria, salvo en uno de ellos con enolismo, aunque sin hepatopatía subyacente. Objetivos: Estudiar y discutir una posible causa profesional para dicha enfermedad, que estaría provocada por la inhalación crónica de partículas de hierro en el trabajo, que serían captadas por los macrófagos alveolares y transportadas hacia la sangre y tejidos. Material y métodos: Revisión bibliográfica. Resultados: Existen datos que sugieren que es posible dicho origen profesional.Introduction: We present two cases of welders with a hemochromatosis disease for which no specific etiology has been found. Studies of genetics for inherited hemochromatosis were negative.Neither external or transfusional supplies of iron, nor others hemochromatosis related diseases were found, except for alcoholism, without any hepatic disease, in one of the subjects. Objectives: To study and to discuss a possible occupational origin of the disease, which could possibly be caused at the wokplace by the chronic inhalation of iron particles, taken in by the alveolars macrophages and then transferred to the blood and organs. Material and methods: Bibliographic review. Results: After the bibliographic review, some data were found suggesting a possible occupational origin.

  14. Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

    Directory of Open Access Journals (Sweden)

    Höblinger A

    2009-04-01

    Full Text Available Abstract Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.

  15. HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping

    DEFF Research Database (Denmark)

    Koefoed, P; Dalhoff, K; Dissing, J

    2002-01-01

    Analysis of the common C282Y and H63D mutations in the HFE gene is widely used to diagnose hereditary hemochromatosis (HH). The aim of this study was to evaluate the efficiency with which different hospitals and general practitioners select patients for HH genotype and to determine the distribution...... of HFE mutations in such patients. Nine hundred unrelated patients from Danish hospitals and general practitioners (group A) and 69 consecutive patients from a specialized liver unit (group B) were examined for HFE substitutions using multiplex real-time polymerase chain reaction. In group A we found 13...

  16. Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.

    Science.gov (United States)

    Rivard, Sylvain R; Lanzara, Carmela; Grimard, Doria; Carella, Massimo; Simard, Hervey; Ficarella, Romina; Simard, Raynald; D'Adamo, Adamo Pio; Férec, Claude; Camaschella, Clara; Mura, Cathrine; Roetto, Antonella; De Braekeleer, Marc; Bechner, Lucien; Gasparini, Paolo

    2003-08-01

    Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder that causes iron overload. In the French Canadian region of Saguenay Lac-Saint-Jean the worldwide largest cohort of JH cases has been identified. Here, we report the mapping of this large cohort of cases to the HFE2 locus on chromosome 1q. A maximum multipoint location score of 7.02 was observed with marker D1S2344. A common ancestral haplotype, showing the presence of a founder effect, was identified. The analysis of recombinants allowed us to confirm the JH candidate region.

  17. Mild hypoxemia during initial reperfusion alleviates the severity of secondary energy failure and protects brain in neonatal mice with hypoxic-ischemic injury.

    Science.gov (United States)

    Niatsetskaya, Zoya V; Charlagorla, Pradeep; Matsukevich, Dzmitry A; Sosunov, Sergey A; Mayurasakorn, Korapat; Ratner, Veniamin I; Polin, Richard A; Starkov, Anatoly A; Ten, Vadim S

    2012-02-01

    Reperfusion triggers an oxidative stress. We hypothesized that mild hypoxemia in reperfusion attenuates oxidative brain injury following hypoxia-ischemia (HI). In neonatal HI-mice, the reperfusion was initiated by reoxygenation with room air (RA) followed by the exposure to 100%, 21%, 18%, 15% oxygen for 60 minutes. Systemic oxygen saturation (SaO(2)), cerebral blood flow (CBF), brain mitochondrial respiration and permeability transition pore (mPTP) opening, markers of oxidative injury, and cerebral infarcts were assessed. Compared with RA-littermates, HI-mice exposed to 18% oxygen exhibited significantly decreased infarct volume, oxidative injury in the brain mitochondria and tissue. This was coupled with improved mitochondrial tolerance to mPTP opening. Oxygen saturation maintained during reperfusion at 85% to 95% was associated (r=0.57) with the best neurologic outcome. Exposure to 100% or 15% oxygen significantly exacerbated brain injury and oxidative stress. Compared with RA-mice, hyperoxia dramatically increased reperfusion CBF, but exposure to 15% oxygen significantly reduced CBF to values observed during the HI-insult. Mild hypoxemia during initial reperfusion alleviates the severity of HI-brain injury by limiting the reperfusion-driven oxidative stress to the mitochondria and mPTP opening. This suggests that at the initial stage of reperfusion, a slightly decreased systemic oxygenation (SaO(2) 85% to 95%) may be beneficial for infants with birth asphyxia.

  18. Neonatal neurosonography

    Energy Technology Data Exchange (ETDEWEB)

    Riccabona, Michael, E-mail: michael.riccabona@klinikum-graz.at

    2014-09-15

    Paediatric and particularly neonatal neurosonography still remains a mainstay of imaging the neonatal brain. It can be performed at the bedside without any need for sedation or specific monitoring. There are a number of neurologic conditions that significantly influence morbidity and mortality in neonates and infants related to the brain and the spinal cord; most of them can be addressed by ultrasonography (US). However, with the introduction of first CT and then MRI, neonatal neurosonography is increasingly considered just a basic first line technique that offers only orienting information and does not deliver much relevant information. This is partially caused by inferior US performance – either by restricted availability of modern equipment or by lack of specialized expertise in performing and reading neurosonographic scans. This essay tries to highlight the value and potential of US in the neonatal brain and briefly touching also on the spinal cord imaging. The common pathologies and their US appearance as well as typical indication and applications of neurosonography are listed. The review aims at encouraging paediatric radiologists to reorient there imaging algorithms and skills towards the potential of modern neurosonography, particularly in the view of efficacy, considering growing economic pressure, and the low invasiveness as well as the good availability of US that can easily be repeated any time at the bedside.

  19. Neonatal pain.

    Science.gov (United States)

    Walker, Suellen M

    2014-01-01

    Effective management of procedural and postoperative pain in neonates is required to minimize acute physiological and behavioral distress and may also improve acute and long-term outcomes. Painful stimuli activate nociceptive pathways, from the periphery to the cortex, in neonates and behavioral responses form the basis for validated pain assessment tools. However, there is an increasing awareness of the need to not only reduce acute behavioral responses to pain in neonates, but also to protect the developing nervous system from persistent sensitization of pain pathways and potential damaging effects of altered neural activity on central nervous system development. Analgesic requirements are influenced by age-related changes in both pharmacokinetic and pharmacodynamic response, and increasing data are available to guide safe and effective dosing with opioids and paracetamol. Regional analgesic techniques provide effective perioperative analgesia, but higher complication rates in neonates emphasize the importance of monitoring and choice of the most appropriate drug and dose. There have been significant improvements in the understanding and management of neonatal pain, but additional research evidence will further reduce the need to extrapolate data from older age groups. Translation into improved clinical care will continue to depend on an integrated approach to implementation that encompasses assessment and titration against individual response, education and training, and audit and feedback.

  20. Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal).

    Science.gov (United States)

    Spínola, Carla; Brehm, António; Spínola, Hélder

    2011-01-01

    Hereditary HFE Hemochromatosis is an inherited disorder of iron metabolism that results from mutations in the HFE gene. Almost all patients with hereditary hemochromatosis show a C282Y mutation in homozygosity or in compound heterozygosity with H63D. Also, the mutation S65C has been shown to be associated to a milder iron overload. Since allele and genotype frequencies of these three variants of the HFE gene vary between populations, the determination of their prevalence in Madeira Island will clarify the population susceptibility to hereditary hemochromatosis. One hundred and fifty-four samples from Madeira Island were genotyped for the three most common HFE gene mutations, H63D, C282Y, and S65C, by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results have shown a prevalence of 20.5%, 0.33%, and 1% for H63D, C282Y, and S65C, respectively. Accordingly to our estimates, both genotypes associated to hereditary hemochromatosis, C282Y homozygotes and C282/H63D compound heterozygotes, could be present in Madeira Island population in 1,648 individuals, which represents 0.65% of the total population.

  1. Recent advance in the molecular genetics of Wilson disease and hereditary hemochromatosis.

    Science.gov (United States)

    Lv, Tingxia; Li, Xiaojin; Zhang, Wei; Zhao, Xinyan; Ou, Xiaojuan; Huang, Jian

    2016-10-01

    Metabolic liver diseases such as Wilson disease (WD) and hereditary hemochromatosis (HH) possess complicated pathogenesis and typical hereditary characteristics with the hallmarks of a deficiency in metal metabolism. Mutations in genes encoding ATPase, Cu + transporting, beta polypeptide (ATP7B) and hemochromatosis (HFE) or several non-HFE genes are considered to be causative for WD and HH, respectively. Although the identification of novel mutations in ATP7B for WD and HFE or the non-HFE genes for HH has increased, especially with the application of whole genome sequencing technology in recent years, the biological function of the identified mutations, as well as genotype-phenotype correlations remain to be explored. Further analysis of the causative gene mutation would be critical to clarify the mechanisms underlying specific disease phenotypes. In this review, we therefore summarize the recent advances in the molecular genetics of WD and HH including the updated mutation spectrums and the correlation between genotype and phenotype, with an emphasis on biological functional studies of the individual mutations identified in WD and HH. The weakness of the current functional studies and analysis for the clinical association of the individual mutation was also discussed. These works are essential for the understanding of the association between genotypes and phenotypes of these inherited metabolic liver diseases.

  2. Imaging iron in skin and liver: Non-invasive tools for hemochromatosis therapy

    Science.gov (United States)

    Pinheiro, T.; Fleming, R.; Gonçalves, A.; Neres, M.; Alves, L. C.; Silva, J. N.; Filipe, P.; Silva, R.

    2009-06-01

    Hemochromatosis is a hereditary disease that causes an inappropriate intestinal absorption of Fe resulting in its accumulation in multiple organs, such as liver, heart and skin. Fe metabolism indicators in the circulation do not provide reliable indication of organ overload as they can be influenced by other clinical conditions. Assessing metabolism organs such as liver requires invasive procedures which is not adequate to patient's serial observations. Our aim was establishing cross sectional and longitudinal information on the amount of Fe that deposited in skin and liver during a life period, how iron is cleared out by therapy intervention and study the relationship of these changes between the two organs using non-invasive methods. Results on skin Fe deposition were evaluated by nuclear microscopy techniques and liver Fe concentrations determined by quantitative magnetic resonance imaging. Skin and liver Fe concentrations were correlated. Though Fe deposits in the two organs were differently associated with blood Fe metabolism conventional markers. Fe serial variations in skin and liver highlighted the value of assessing Fe organ deposits for estimating hemochromatosis evolution and therapy efficacy.

  3. Imaging iron in skin and liver: Non-invasive tools for hemochromatosis therapy

    Energy Technology Data Exchange (ETDEWEB)

    Pinheiro, T. [Instituto Tecnologico e Nuclear and Centro de Fisica Nuclear/UL, E.N. 10, 2685-953 Sacavem (Portugal)], E-mail: murmur@itn.pt; Fleming, R. [Servico Imunohemoterapia, Hospital de Santa Maria, Lisboa (Portugal); Goncalves, A. [Servico de Imagiologia Geral, Hospital de Santa Maria, Lisboa (Portugal); Neres, M.; Alves, L.C. [Instituto Tecnologico e Nuclear and Centro de Fisica Nuclear/UL, E.N. 10, 2685-953 Sacavem (Portugal); Silva, J.N.; Filipe, P.; Silva, R. [Clinica Universitaria de Dermatologia, Hospital de Santa Maria and Faculdade de Medicina/UL, Lisboa (Portugal)

    2009-06-15

    Hemochromatosis is a hereditary disease that causes an inappropriate intestinal absorption of Fe resulting in its accumulation in multiple organs, such as liver, heart and skin. Fe metabolism indicators in the circulation do not provide reliable indication of organ overload as they can be influenced by other clinical conditions. Assessing metabolism organs such as liver requires invasive procedures which is not adequate to patient's serial observations. Our aim was establishing cross sectional and longitudinal information on the amount of Fe that deposited in skin and liver during a life period, how iron is cleared out by therapy intervention and study the relationship of these changes between the two organs using non-invasive methods. Results on skin Fe deposition were evaluated by nuclear microscopy techniques and liver Fe concentrations determined by quantitative magnetic resonance imaging. Skin and liver Fe concentrations were correlated. Though Fe deposits in the two organs were differently associated with blood Fe metabolism conventional markers. Fe serial variations in skin and liver highlighted the value of assessing Fe organ deposits for estimating hemochromatosis evolution and therapy efficacy.

  4. RADIOACTIVE IRON ABSORPTION IN CLINICAL CONDITIONS: NORMAL, PREGNANCY, ANEMIA, AND HEMOCHROMATOSIS.

    Science.gov (United States)

    Balfour, W M; Hahn, P F; Bale, W F; Pommerenke, W T; Whipple, G H

    1942-07-01

    Radio iron is a tool which makes iron absorption studies quite accurate in dogs and reasonably satisfactory in human beings. This method is vastly superior to others previously used. Normal human pregnancy without significant anemia may show active radio iron absorption-16 to 27 per cent of iron intake. The pregnant woman as a rule shows 2 to 10 times the normal absorption of radio iron. Diseased states in which iron stores are known to be very abundant-pernicious anemia, hemochromatosis, familial icterus, and Mediterranean anemia -show very little absorption, probably less than normal. This is in spite of a severe anemia in all conditions except hemochromatosis. Chronic infections in spite of anemia show no utilization of radio iron, whether it may be absorbed or not. Leukemia shows little utilization of radio iron in red cells in spite of absorption (autopsy), probably because of white cells choking the red marrow. Polycythemia shows very low values for iron absorption as do normal persons. Two pregnant women showed only normal iron absorption. We believe that reserve stores of iron in the body, rather than anemia, control iron absorption. This control is exerted upon the gastro-intestinal mucosa which can refuse or accept iron under various conditions.

  5. Clinical epidemiological characteristics of neonatal respiratory failure in Children's Hospital of Hebei Province%河北省儿童医院新生儿呼吸衰竭的临床流行病学特点

    Institute of Scientific and Technical Information of China (English)

    郭艳梅; 刘翠青

    2012-01-01

    目的 探讨本院新生儿重症监护病房中新生儿呼吸衰竭(neonatal respiratory failure,NRF)的发生及治疗情况. 方法 对2008年1月1日至12月31日间本院NICU诊断的626例NRF患儿进行回顾性资料收集及统计分析,了解NRF的发生、救治状况、病死高危因素及疾病负担,并采用卡方检验与其他研究结果进行比较. 结果 在连续12个月间,NRF患儿626例,占本院同期新生儿重症监护病房收治患儿的38.9%(626/1608),总的院内病死率为22.5%(141/626),其中放弃治疗的比例占95.0%(134/141),病死率较2004年至2005年(37.2%,113/304)有所下降,且低于同期全国性研究(24.7%,1683/6864).肺炎/败血症(34.8%,218/626)、新生儿呼吸窘迫综合征(31.6%,198/626)、胎粪吸入综合征(10.7%,67/626)等是NRF的首要原发疾病,肺炎/败血症(5.4%,34/626)、颅内出血(4.6%,29/626)、持续性肺动脉高压(3.2%,20/626)等是主要院内并发症.本院NRF患儿的肺表面活性物质应用率显著提高,由2004年至2005年的14.1%(43/304)上升至23.6%(149/626),接近国内平均水平(26.8%,1840/6864).70.2%(139/198)的新生儿呼吸窘迫综合征患儿接受了肺表面活性物质治疗,12.1%(24/198)应用了气管插管-肺表面活性物质-拔管使用持续气道正压通气技术.2.7%(17/626)的患儿接受了一氧化氮吸入治疗.经鼻持续气道正压通气使用率由2004年至2005年的47.1%(143/304)上升至76.5%(479/626),常频通气由72.7%(221/304)下降至49.8%(312/626),高频通气由0.7%(2/304)上升至10.5%(66/626),各种辅助通气构成变化与全国性研究结果一致.治愈和好转出院的480例患儿中,住院总天数平均为(15.1±4.0)d,住院总费用为(12752±5148)元. 结论 本院NRF的治疗规模、技术水平及救治手段均有很大发展,肺表面活性物质、经鼻持续气道正压通气和高频通气的使用率均有明显提高.新生儿呼吸衰

  6. Ictericia Neonatal

    OpenAIRE

    Blanco de la Fuente, María Isabel

    2014-01-01

    El motivo que ha llevado a la realización de este trabajo fin de grado sobre el tema de la ICTERICIA NEONATAL se debe a la elevada frecuencia de su aparición en la población. Un porcentaje elevado de RN la padecen al nacer siendo, en la mayor parte de los casos, un proceso fisiológico resuelto con facilidad debido a una inmadurez del sistema hepático y a una hiperproducción de bilirrubina. La ictericia neonatal es la pigmentación de color amarillo de la piel y mucosas en ...

  7. Clinical pharmacology of carbapenems in neonates.

    Science.gov (United States)

    Pacifici, Gian Maria; Allegaert, Karel

    2014-04-01

    Carbapenems are an effective tool to treat complicated bacterial infections. This review aims to summarize the available information on carbapenems in neonates to guide clinicians on drug choice and indications in neonates. Moreover, identification of knowledge gaps may stimulate researchers to design studies to further improve pharmacotherapy in neonates. To do so, a bibliographic search [infant/newborn and meropenem, imipenem, panipenem, ertapenem, doripenem or imipenem] was performed (PubMed, EMBASE) and public clinical trial registries (clinicaltrials.gov, EU registry) were searched to summarize the available information. Carbapenem clearance in neonates is low. Variability relates to maturation (weight, age) and renal function (creatinine clearance), while observations in neonates with renal failure are absent. Pharmacodynamics are almost exclusively limited to meropenem, and the available information will further increase (NeoMero-1-2, necrotizing enterocolitis, meningitis). Finally, there are also some ongoing doripenem pharmacokinetics (PK) studies in neonates. It was concluded that observations on carbapenems in neonates are limited, but studies (NeoMero, doripenem) are ongoing. Until this information becomes available, off label prescription of meropenem seems to be the most reasonable choice when a carbapenem is appropriate. Knowledge gaps relate to PK in neonates with renal failure and to the potential benefit of prolonged compared to short duration of infusion.

  8. Neonatal hematology.

    Science.gov (United States)

    Diaz-Miron, Jose; Miller, Jacob; Vogel, Adam M

    2013-11-01

    Neonatal hematology is a complex and dynamic process in the pediatric population. Surgeons frequently encounter hematologic issues regarding hemostasis, inflammation, and wound healing. This publication provides a surgeon-directed review of hematopoiesis in the newborn, as well as an overview of the current understanding of their hemostatic profile under normal and pathologic conditions. © 2013 Published by Elsevier Inc.

  9. Neonatal Kraniefraktur

    DEFF Research Database (Denmark)

    Johannesen, Katrine Marie Harries; Stantchev, Hristo

    2015-01-01

    During the latest decades the incidence of birth traumas has decreased significantly. Even so the traumas still contribute to an increased mortality and morbidity. We present a case of spontaneous neonatal skull fracture following a normal vaginal delivery. Abnormal facial structure was seen...

  10. Redox therapy in neonatal sepsis: reasons, targets, strategy, and agents.

    Science.gov (United States)

    Bajčetić, Milica; Spasić, Snežana; Spasojević, Ivan

    2014-09-01

    Neonatal sepsis is one of the most fulminating conditions in neonatal intensive care units. Antipathogen and supportive care are administered routinely, but do not deliver satisfactory results. In addition, the efforts to treat neonatal sepsis with anti-inflammatory agents have generally shown to be futile. The accumulating data imply that intracellular redox changes intertwined into neonatal sepsis redox cycle represent the main cause of dysfunction of mitochondria and cells in neonatal sepsis. Our aim here is to support the new philosophy in neonatal sepsis treatment, which involves the integration of mechanisms that are responsible for cellular dysfunction and organ failure, the recognition of the most important targets, and the selection of safe agents that can stop the neonatal sepsis redox cycle by hitting the hot spots. Redox-active agents that could be beneficial for neonatal sepsis treatment according to these criteria include lactoferrin, interleukin 10, zinc and selenium supplements, ibuprofen, edaravone, and pentoxifylline.

  11. [Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report].

    Science.gov (United States)

    Granatowska, Dorota; Walas, Wojciech; Jakuszewska, Elzbieta; Masełko, Jacek; Zembala-Nozyńska, Ewa; Smigiel, Robert

    2006-01-01

    A patient with severe persistent pulmonary hypertension of the newborn (PPHN) due to alveolar capillary dysplasia, congenital (ACD), is presented. In the treatment, apart from standard methods, high frequency oscillatory ventilation (HFOV), inhaled nitric oxide and activated C protein have been applied. In spite of treatment the patient died and post-mortem diagnosis was based on lung histopathology examination. ACD occurs very rarely and is a congenital disease. Diagnosis is by pulmonary tissue histopathology examination. Pathological structure of the lungs leads to severe dysfunction of gas exchange as well as increasing pulmonary hypertension. No effective treatment is known and all so far described cases have ended up with death. The described case and literature data lead the authors to the following conclusions: 1. in case of PPHN resistant to treatment, ACD diagnosis should be taken into consideration, 2. histopathological examination determines the diagnosis, 3. limited capabilities of diagnosis are the reason for applying non-standard and expensive treatment methods which so far are doomed to failure, 4. in case of a patient with severe, persistent pulmonary hypertension and unclear aetiology, not reacting to nitrous oxide treatment, a diagnostic lung biopsy should be considered.

  12. 遗传性血色病分子机制的研究进展%Molecular mechanism of hereditary hemochromatosis

    Institute of Scientific and Technical Information of China (English)

    张莉; 徐明彤

    2008-01-01

    Hereditary hemochromatosis should be defined as a hereditary iron loading disorder.It is caused by a genetically determined failure to prevent unneeded iron from entering the circulatory pool and characterized by progressive parenchymal iron overload with potential for muhiorgan damage and diseases.The metabolism and transportation of iron are controlled by hepcidin-ferroportin axis.Mutations of HFE,TfR2,HJV and HAMP can influence the level of hepcidin.Ferroportin disease is different from the other types though it also has iron overloading.Genetic mutations of different related genes may have different phenotypes.%遗传性血色病是由于基因变异引起铁代谢异常,进而造成多器官铁沉积.目前认为铁代谢转运主要由hepcidin-转铁蛋白(FPN)轴控制,血色病蛋白编码基因(HFE)、FPN受体2(TfR2)、血幼素(HJV)、HAMP(hepcidin的编码基因)基因突变都可以影响hepcidin水平.FPN突变也可引起铁超负荷,但机制有所不同.各调节蛋白的基因突变可引起不同的疾病表型.

  13. Neonatal infectious diseases: evaluation of neonatal sepsis.

    Science.gov (United States)

    Camacho-Gonzalez, Andres; Spearman, Paul W; Stoll, Barbara J

    2013-04-01

    Neonatal sepsis remains a feared cause of morbidity and mortality in the neonatal period. Maternal, neonatal, and environmental factors are associated with risk of infection, and a combination of prevention strategies, judicious neonatal evaluation, and early initiation of therapy are required to prevent adverse outcomes. This article reviews recent trends in epidemiology and provides an update on risk factors, diagnostic methods, and management of neonatal sepsis. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Neonatal Kraniefraktur

    DEFF Research Database (Denmark)

    Johannesen, Katrine Marie Harries; Stantchev, Hristo

    2015-01-01

    During the latest decades the incidence of birth traumas has decreased significantly. Even so the traumas still contribute to an increased mortality and morbidity. We present a case of spontaneous neonatal skull fracture following a normal vaginal delivery. Abnormal facial structure was seen......, and the fracture was identified with an MRI. The fractures healed without neurosurgical intervention. Case reports show that even in uncomplicated vaginal deliveries skull fractures can be seen and should be suspected in children with facial abnormalities....

  15. Hemochromatosis: Niche Construction and the Genetic Domino Effect in the European Neolithic.

    Science.gov (United States)

    McCullough, John M; Heath, Kathleen M; Smith, Alexis M

    2015-01-01

    Hereditary hemochromatosis is caused by a potentially lethal recessive gene (HFE, C282Y allele) that increases iron absorption and reaches polymorphic levels in northern European populations. Because persons carrying the allele absorb iron more readily than do noncarriers, it has often been suggested that HFE is an adaptation to anemia. We hypothesize positive selection for HFE began during or after the European Neolithic with the adoption of an iron-deficient high-grain and dairying diet and consequent anemia, a finding confirmed in Neolithic and later European skeletons. HFE frequency compared with rate of lactase persistence in Eurasia yields a positive linear correlation coefficient of 0.86. We suggest this is just one of many mutations that became common after the adoption of agriculture.

  16. Molecular and clinical aspects of iron homeostasis: From anemia to hemochromatosis.

    Science.gov (United States)

    Nairz, Manfred; Weiss, Günter

    2006-08-01

    The discovery in recent years of a plethora of new genes whose products are implicated in iron homeostasis has led to rapid expansion of our knowledge in the field of iron metabolism and its underlying complex regulation in both health and disease. Abnormalities of iron metabolism are among the most common disorders encountered in practical medicine and may have significant negative impact on physical condition and life expectancy. Basic insights into the principles of iron homeostasis and the pathophysiological and clinical consequences of iron overload, iron deficiency and misdistribution are thus of crucial importance in modern medicine. This review summarizes our current understanding of human iron metabolism and focuses on the clinically relevant features of hereditary and secondary hemochromatosis, iron deficiency anemia, anemia of chronic disease and anemia of critical illness. The interconnections between iron metabolism and immunity are also addressed, in as much as they may affect the risk and course of infections and malignancies.

  17. Population genetics of hereditary hemochromatosis in Saguenay Lac-Saint-Jean (Quebec, Canada).

    Science.gov (United States)

    de Braekeleer, M; Vigneault, A; Simard, H

    1992-01-01

    Hereditary hemochromatosis (HH) is an autosomal recessive disorder that has a high prevalence in Caucasian populations. Based on HLA typing in 18 families, the gene frequency was estimated 0.12. The homozygote frequency was 0.014 and the heterozygote frequency was 0.21 in Saguenay Lac-Saint-Jean (SLSJ), a geographically isolated region of northeastern Quebec. The genealogical reconstruction showed that 15 of the 57 obligate carriers of the HH gene could be traced back to a unique ancestor in the 18th century. The mean coefficients of inbreeding and kinship were 17 and 15 times, respectively, higher in the HH group than in three control groups. The values of both coefficients were much higher than those found in other HH populations and in most of the other recessive disorders prevalent in SLSJ.

  18. Seizures in Preterm Neonates: A Multicenter Observational Cohort Study.

    Science.gov (United States)

    Glass, Hannah C; Shellhaas, Renée A; Tsuchida, Tammy N; Chang, Taeun; Wusthoff, Courtney J; Chu, Catherine J; Cilio, M Roberta; Bonifacio, Sonia L; Massey, Shavonne L; Abend, Nicholas S; Soul, Janet S

    2017-07-01

    The purpose of this study was to characterize seizures among preterm neonates enrolled in the Neonatal Seizure Registry, a prospective cohort of consecutive neonates with seizures at seven pediatric centers that follow the American Clinical Neurophysiology Society's neonatal electroencephalography monitoring guideline. Of 611 enrolled neonates with seizures, 92 (15%) were born preterm. Seizure characteristics were evaluated by gestational age at birth for extremely preterm (preterm (28 to preterm (32 to preterm neonates. Hypothermia therapy was utilized in 15 moderate to late preterm subjects with encephalopathy. The presence of subclinical seizures, monotherapy treatment failure, and distribution of seizure burden (including status epilepticus) was similar in preterm and term neonates. However, exclusively subclinical seizures occurred more often in preterm than term neonates (24% vs 14%). Phenobarbital was the most common initial medication for all gestational age groups, and failure to respond to an initial loading dose was 63% in both preterm and term neonates. Mortality was similar among the three preterm gestational age groups; however, preterm mortality was more than twice that of term infants (35% vs 15%). Subclinical seizures were more common and mortality was higher for preterm than term neonates. These data underscore the importance of electroencephalographic monitoring and the potential for improved management in preterm neonates. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Neonatal Listeriosis

    Directory of Open Access Journals (Sweden)

    Shih-Yu Chen

    2007-01-01

    Full Text Available In Western developed countries, Listeria monocytogenes is not an uncommon pathogen in neonates. However, neonatal listeriosis has rarely been reported in Taiwan. We describe two cases collected from a single medical institute between 1990 and 2005. Case 1 was a male premature baby weighing 1558 g with a gestational age of 31 weeks whose mother had fever with chills 3 days prior to delivery. Generalized maculopapular rash was found after delivery and subtle seizure developed. Both blood and cerebrospinal fluid culture collected on the 1st day yielded L. monocytogenes. In addition, he had ventriculitis complicated with hydrocephalus. Neurologic development was normal over 1 year of follow-up after ventriculoperitoneal shunt operation. Case 2 was a 28-weeks' gestation male premature baby weighing 1180 g. Endotracheal intubation and ventilator support were provided after delivery due to respiratory distress. Blood culture yielded L. monocyto-genes. Cerebrospinal fluid showed pleocytosis but the culture was negative. Brain ultrasonography showed ventriculitis. Sudden deterioration with cyanosis and bradycardia developed on the 8th day and he died on the same day. Neonatal listeriosis is uncommon in Taiwan, but has significant mortality and morbidity. Early diagnosis of perinatal infection relies on high index of suspicion in perinatal health care professionals. [J Formos Med Assoc 2007;106(2:161-164

  20. Clinical Effect of High - frequency Oscillatory Ventilation in the Adjuvant Treatment of Neonatal Respiratory Failure%高频振荡通气辅助治疗新生儿呼吸衰竭的临床效果研究

    Institute of Scientific and Technical Information of China (English)

    张莉; 郑肖瑾; 张耀

    2015-01-01

    目的:探究高频振荡通气辅助治疗新生儿呼吸衰竭的临床效果。方法选取海口市妇幼保健院2011年6月—2014年12月收治的新生儿呼吸衰竭患儿96例,按入院顺序分为观察组和对照组,每组48例。观察组患儿给予高频振荡呼吸机进行辅助治疗,对照组患儿给予常规婴儿型呼吸机进行辅助治疗。比较两组患儿临床效果及并发症发生情况,治疗前后动脉血氧分压(PaO2)、动脉血二氧化碳分压(PaCO2)、氧合指数(PaO2/ FiO2)、PaO2/ PaCO2。结果观察组患儿临床效果优于对照组( u =2.758,P =0.006)。两组患儿治疗前 PaO2、PaCO2、PaO2/ FiO2、PaO2/PaCO2比较,差异无统计学意义(P ﹥0.05);观察组患儿治疗48 h 后 PaO2、PaO2/ PaCO2高于对照组,PaCO2、PaO2/FiO2低于对照组(P ﹤0.05)。观察组患儿气胸、慢性肺疾病、颅内出血发生率低于对照组(P ﹤0.05)。结论高频振荡通气辅助治疗新生儿呼吸衰竭患儿的临床效果确切,能有效改善患儿氧合情况,且并发症较少。%Objective To investigate the clinical effect of high - frequency oscillatory ventilation in the adjuvant treatment of neonatal respiratory failure. Methods A total of 96 children with neonatal respiratory failure were selected in the Maternal and Child Care Service Center of Haikou from June 2011 to December 2014,and they were divided into control group and observation group according to visiting sequence,each of 48 cases. Children of control group were given routine baby - type breathing machine for adjuvant treatment,while children of observation group were given high - frequency oscillatory ventilation. Clinical effect and incidence of complications,PaO2 ,PaCO2 ,PaO2 / FiO2 and PaO2 / PaCO2 before and after treatment were compared between the two groups. Results The clinical effect of observation group was statistically significantly better than that of control group

  1. Absorption of manganese and iron in a mouse model of hemochromatosis.

    Directory of Open Access Journals (Sweden)

    Jonghan Kim

    Full Text Available Hereditary hemochromatosis, an iron overload disease associated with excessive intestinal iron absorption, is commonly caused by loss of HFE gene function. Both iron and manganese absorption are regulated by iron status, but the relationships between the transport pathways of these metals and how they are affected by HFE-associated hemochromatosis remain poorly understood. Loss of HFE function is known to alter the intestinal expression of DMT1 (divalent metal transporter-1 and Fpn (ferroportin, transporters that have been implicated in absorption of both iron and manganese. Although the influence of HFE deficiency on dietary iron absorption has been characterized, potential effects on manganese metabolism have yet to be explored. To investigate the role of HFE in manganese absorption, we characterized the uptake and distribution of the metal in Hfe (-/- knockout mice after intravenous, intragastric, and intranasal administration of (54Mn. These values were compared to intravenous and intragastric administration of (59Fe. Intestinal absorption of (59Fe was increased and clearance of injected (59Fe was also increased in Hfe(-/- mice compared to controls. Hfe (-/- mice displayed greater intestinal absorption of (54Mn compared to wild-type Hfe(+/+ control mice. After intravenous injection, the distribution of (59Fe to heart and liver was greater in Hfe (-/- mice but no remarkable differences were observed for (54Mn. Although olfactory absorption of (54Mn into blood was unchanged in Hfe (-/- mice, higher levels of intranasally-instilled (54Mn were associated with Hfe(-/- brain compared to controls. These results show that manganese transport and metabolism can be modified by HFE deficiency.

  2. An unhappy triad: Hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-A case report

    Institute of Scientific and Technical Information of China (English)

    Martina T Mogl; Andreas Pascher; Sabine J Presser; Michael Schwabe; Peter Neuhaus; Natascha C Nuessler

    2007-01-01

    Liver fibrosis and cirrhosis are predisposing factors for the development of hepatocellular carcinoma (HCC). Hemosiderosis has also been described to trigger carcinogenesis. A significant iron overload, as found in hereditary hemochromatosis (HHC), is a risk factor for HCC and may also promote the symptoms of porphyria cutanea tarda (PCT). A 68-year old male patient presented to our clinic with a suspected HCC,elevated alpha-fetoprotein but normal liver function tests. He reported a 25 year-old history of vitiligo upon exposure to sunlight. The patient underwent an extended left hemihepatectomy, and the recovery was uneventful, with the exception of a persistent hyperbilirubinemia. Perfusion problems and extrahepatic cholestasis were ruled out by CT-scan with angiography and MR-cholangiopancreatography. However, MRI showed an iron overload. Histology confirmed the HCC (pT3, pN0, G3, R0) and revealed a portal fibrosis and hemosiderosis. Based on the skin lesions we suspected a PCT that was confirmed by laboratory tests showing elevated porphyrin, uroporphyrin, coproporphyrin and porphobilinogen. Concurrently, molecular diagnostics revealed homozygosity for the C282Y mutation within the hemochromatosis HFE gene. After phlebotomy and normalization of liver function tests the patient was discharged. This is the first case ever showing the unusual combination of HCC in a fibrotic liver with HHC and PCT. This diagnosis not only warrants oncological follow-up but also symptomatic therapy to normalize iron metabolism and thereby improve liver function and alleviate the symptoms of HHC and PCT. Thus progression of fibrosis may be prevented and liver regeneration supported.

  3. Incidence of cardiac arrhythmias in asymptomatic hereditary hemochromatosis subjects with C282Y homozygosity.

    Science.gov (United States)

    Shizukuda, Yukitaka; Tripodi, Dorothy J; Zalos, Gloria; Bolan, Charles D; Yau, Yu-Ying; Leitman, Susan F; Waclawiw, Myron A; Rosing, Douglas R

    2012-03-15

    It is not well known whether systemic iron overload per se in hereditary hemochromatosis (HH) is associated with cardiac arrhythmias before other signs and symptoms of cardiovascular disease occur. In the present study, we examined the incidence of cardiac arrhythmia in cardiac asymptomatic subjects with HH (New York Heart Association functional class I) and compared it to that in age- and gender-matched normal volunteers. The 42 subjects with HH and the 19 normal control subjects were recruited through the National Heart, Lung, and Blood Institute-sponsored "Heart Study of Hemochromatosis." They completed 48-hour Holter electrocardiography ambulatory monitoring at the baseline evaluation. The subjects with HH were classified as newly diagnosed (group A) and chronically treated (group B) subjects. All subjects with HH had C282Y homozygosity, and the normal volunteers lacked any HFE gene mutations known to cause HH. Although statistically insignificant, the incidence of ventricular and supraventricular ectopy tended to be greater in the combined HH groups than in the controls. Supraventricular ectopy was more frequently noted in group B compared to in the controls (ectopy rate per hour 11.1 ± 29.9 vs 1.5 ± 3.5, p arrhythmias was not significantly reduced after 6 months of intensive iron removal therapy in the group A subjects. No life-threatening arrhythmias were observed in our subjects with HH. In conclusion, our data suggest that the incidence of cardiac arrhythmias is, at most, marginally increased in asymptomatic subjects with HH. A larger clinical study is warranted to further clarify our observation.

  4. Neonatal pulmonary artery thrombosis

    Directory of Open Access Journals (Sweden)

    Mangesh Jadhav

    2012-01-01

    Full Text Available Pulmonary artery thrombosis in neonates is a rare entity. We describe two neonates with this diagnosis; their presentation, evaluation, and management. These cases highlight the importance of this differential diagnosis when evaluating the cyanotic neonate.

  5. Neonatal circumcision.

    Science.gov (United States)

    Lerman, S E; Liao, J C

    2001-12-01

    The merits of neonatal circumcision continue to be debated hotly. Some argue that circumcision is a "uniquely American medical enigma." Most of the world's male population remains uncircumcised; however, most boys born in the United States continue to undergo neonatal circumcision. Review of existing literature supports that most children who are uncircumcised do well from a medical standpoint and, thus, the question of whether US health care practitioners are subjecting neonates to an unnecessary surgical procedure remains. The medical benefits of circumcision are multiple, but most are small. The clearest medical benefit of circumcision is the relative reduction in the risk for a UTI, especially in early infancy. Although this risk [figure: see text] is real, the absolute numbers are small (risk ranges from 1 in 100 to 1 in 1000), and one investigator has estimated that it may take approximately 80 neonatal circumcisions to prevent one UTI. In the case of a patient with known urologic abnormalities that predispose to UTI, neonatal circumcision has a clearer role in terms of medical benefit to the patient. Most of the other medical benefits of circumcision probably can be realized without circumcision as long as access to clean water and proper penile hygiene are achieved. Proper penile hygiene should all but eliminate the risk for foreskin-related medical problems that will require circumcision. Moreover, proper hygiene and access to clean water has been shown to reduce the rate of development of squamous cell carcinoma of the penis in the uncircumcised population. Proper techniques on the care of the foreskin are illustrated in the American Academy of Pediatrics pamphlet titled "How to care for the uncircumcised penis." Regarding the relationship between STDs and circumcision, patient education and the practice of low-risk sexual behavior make a far greater impact than does routine circumcision in hopes of reducing the spread of HIV and other STDs. Nevertheless

  6. Therapeutic Depletion of Iron Stores Is Not Associated with a Reduced Hemoglobin Mass in a Hemochromatosis Patient

    Science.gov (United States)

    Wrobel, Nina; Pottgiesser, Torben; Birkner, Philipp; Deibert, Peter; Ahlgrim, Christoph

    2016-01-01

    Introduction Hereditary hemochromatosis features a dysregulated iron absorption leading to iron overload and organ damage. The regulation of total hemoglobin mass during depletion of iron deposits by therapeutic phlebotomy has not been studied. Case Presentation The initial ferritin level of the 52-year-old male subject was 1,276 μg/l. Despite successful depletion of iron stores (ferritinmin: 53 μg/l) through phlebotomies, total hemoglobin mass stabilized at the pretherapy level. However, regeneration of total hemoglobin mass was accelerated (up to 10.8 g/day). Conclusion In this hemochromatosis patient, the total hemoglobin mass was not altered in the long term, but regeneration was accelerated, possibly due to elevated body iron content. PMID:27721733

  7. Effect of olfactory manganese exposure on anxiety-related behavior in a mouse model of iron overload hemochromatosis

    OpenAIRE

    Ye, Qi; Kim, Jonghan

    2015-01-01

    Manganese in excess promotes unstable emotional behavior. Our previous study showed that olfactory manganese uptake into the brain is altered in Hfe−/− mice, a model of iron overload hemochromatosis, suggesting that Hfe deficiency could modify the neurotoxicity of airborne manganese. We determined anxiety-related behavior and monoaminergic protein expression after repeated intranasal instillation of MnCl2 to Hfe−/− mice. Compared with manganese-instilled wild-type mice, Hfe−/− mice showed dec...

  8. A Case Study of Hemochromatosis and Conflicting Point Shear Wave Measurements in the Assessment of Liver Fibrosis.

    Science.gov (United States)

    Cohen, Tal; Barr, Richard G

    2017-01-09

    There are multiple factors that affect the shear wave speed in the assessment of liver stiffness. In this case report, we present a case of hemochromatosis that has elevated liver stiffness suggestive of significant fibrosis or cirrhosis; however on liver biopsy, no fibrosis was identified. This article will discuss the possibility that liver iron deposition may affect SWE measurements of the liver, leading to inaccurate assessment of liver fibrosis. In these cases, a liver biopsy may be required for accurate liver assessment.

  9. Hereditary Hemochromatosis

    Science.gov (United States)

    ... Situations Pets and Animals myhealthfinder Food and Nutrition Healthy Food Choices Weight Loss and Diet Plans Nutrients and Nutritional Info Sugar and Sugar Substitutes Exercise and Fitness Exercise Basics Sports Safety Injury Rehabilitation Emotional Well- ...

  10. Increased duodenal DMT-1 expression and unchanged HFE mRNA levels in HFE-associated hereditary hemochromatosis and iron deficiency.

    Science.gov (United States)

    Byrnes, V; Barrett, S; Ryan, E; Kelleher, T; O'Keane, C; Coughlan, B; Crowe, J

    2002-01-01

    HFE-associated hereditary hemochromatosis is characterized by imbalances of iron homeostasis and alterations in intestinal iron absorption. The identification of the HFE gene and the apical iron transporter divalent metal transporter-1, DMT-1, provide a direct method to address the mechanisms of iron overload in this disease. The aim of this study was to evaluate the regulation of duodenal HFE and DMT-1 gene expression in HFE-associated hereditary hemochromatosis. Small bowel biopsies and serum iron indices were obtained from a total of 33 patients. The study population comprised 13 patients with hereditary hemochromatosis (C282Y homozygous), 10 patients with iron deficiency anemia, and 10 apparently healthy controls, all of whom were genotyped for the two common mutations in the HFE gene (C282Y and H63D). Total RNA was isolated from tissue and amplified via RT-PCR for HFE, DMT-1, and the internal control GAPDH. DMT-1 protein expression was additionally assessed by immunohistochemistry. Levels of HFE mRNA did not differ significantly between patient groups (P = 0.09), specifically between C282Y homozygotes and iron deficiency anemic patients, when compared to controls (P = 0.09, P = 0.9, respectively). In contrast, DMT-1 mRNA levels were at least twofold greater in patients with hereditary hemochromatosis and iron deficiency anemia when compared to controls (P = 0.02, P = 0.01, respectively). Heightened DMT-1 protein expression correlated with mRNA levels in all patients. Loss of HFE function in hereditary hemochromatosis is not derived from inhibition of its gene expression. DMT-1 expression in C282Y homozygote subjects is consistent with the hypothesis of a "paradoxical" duodenal iron deficiency in hereditary hemochromatosis. The observed twofold upregulation of the DMT-1 is consistent with the slow but steady increase in body iron stores observed in those presenting with clinical features of hereditary hemochromatosis.

  11. A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England.

    Science.gov (United States)

    Willis, G; Jennings, B A; Goodman, E; Fellows, I W; Wimperis, J Z

    1997-08-01

    We have examined normal individuals and all the patients currently being treated for hemochromatosis at the Norfolk and Norwich hospital for mutations in the HLA-H gene. We found a gene frequency in 200 normal subjects for teh 845A (C282Y) allele of 0.085, corresponding to a carrier frequency of 17% which is among the highest reported anywhere in the world. The frequency for the less penetrant 187G (H63D) allele was 0.16 among 58 of the normal subjects, which corresponds to a carrier frequency of 32%. All 18 hemochromatosis patients were homozygous for the 845A allele which is not significantly different from other reports in our subset of 12 unrelated patients. These findings present a snapshot of a relatively stable population containing a predicted 3,500 individuals homozygous for the 845A allele but not diagnosed with hemochromatosis. This population will be an excellent model for studies on the penetrance of the 845A homozygous genotype and population screening.

  12. Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

    Energy Technology Data Exchange (ETDEWEB)

    Yaouanq, J.; Perichon, M.; Treut, A.L.; Kahloun, A.E.; Mauvieux, V.; Blayau, M.; Jouanolle, A.M.; Chauvel, B.; Le Gall, J.Y.; David, V. (Faculte de Medicine, Rennes (France)) (and others)

    1994-02-01

    The hemochromatosis gene (HFE) maps to 6p21.3 and is less than 1 cM from the HLA class I gene; however, the precise physical location of the gene has remained elusive and controversial. The unambiguous identification of a crossover event within hemochromatosis families is very difficult; it is particularly hampered by the variability of the phenotypic expression as well as by the sex- and age-related penetrance of the disease. For these considerations, traditional linkage analysis could prove of limited value in further refining the extrapolated physical position of HFE. The authors therefore embarked upon a linkage-disequilibrium analysis of HFE and normal chromosomes for the Brittany population. In this report, 66 hemochromatosis families yielding 151 hemochromatosis chromosomes and 182 normal chromosomes were RFLP-typed with a battery of probes, including two newly derived polymorphic markers from the 6.7 and HLA-F loci located 150 and 250 kb telomeric to HLA-A, respectively. The results suggest a strong peak of existing linkage disequilibrium focused within the i82-to-6.7 interval (approximately 250 kb). The zone of linkage disequilibrium is flanked by the i97 locus, positioned 30 kb proximal to i82, and the HLA-F gene, found 250 kb distal to HLA-A, markers of which display no significant association with HFE. These data support the possibility that HFE resides within the 400-kb expanse of DNA between i97 and HLA-F. Alternatively, the very tight association of HLA-A3 and allele 1 of the 6.7 locus, both of which are comprised by the major ancestral or founder HFE haplotype in Brittany, supports the possibility that the disease gene may reside immediately telomeric to the 6.7 locus within the linkage-disequilibrium zone. Additionally, hemochromatosis haplotypes possessing HLA-A11 and the low-frequency HLA-F polymorphism (allele 2) are supportive of a separate founder chromosome containing a second, independently arising mutant allele. 69 refs., 1 fig., 5 tabs.

  13. Carnitine in neonatal nutrition.

    Science.gov (United States)

    Borum, P R

    1995-11-01

    Experimental evidence from several investigators suggests that carnitine is a conditionally essential nutrient for neonates. If carnitine is a conditionally essential nutrient for the neonate, most neonates on total parenteral nutrition in the United States are not receiving adequate nutritional support. The metabolic functions of carnitine are varied and important in several aspects of neonatal physiology. All neonates receiving breast milk receive dietary carnitine and most neonates receiving enteral infant formulas receive dietary carnitine at a level similar to that of the breast-fed neonate. However, most neonates on total parenteral nutrition receive no dietary carnitine. Investigators have been testing the working hypothesis that carnitine is a conditionally essential nutrient for the neonate for many years. This review discusses (1) data supporting the hypothesis, (2) reasons why it has not been either proved or disproved by now, and (3) the author's view of a prudent approach to dietary carnitine supplementation of neonates.

  14. Neonatal lupus.

    Science.gov (United States)

    Robles, David T; Jaramillo, Lorena; Hornung, Robin L

    2006-12-10

    An otherwise healthy 5-week-old infant with erythematous plaques predominantly on the face and scalp presented to our dermatology clinic. The mother had been diagnosed with lupus erythematosus 2 years earlier but her disease was quiescent. Neonatal lupus is a rare condition associated with transplacental transfer of IgG anti-SSA/Ro and anti-SSB/La antibodies from the mother to the fetus. Active connective tissue disease in the mother does not have to be present and in fact is often absent. Although the cutaneous, hematologic and hepatic manifestations are transient, the potential for permanent heart block makes it necessary for this to be carefully ruled out. As in this case, the dermatologist may be the one to make the diagnosis and should be aware of the clinical presentation, work-up, and management of this important disease.

  15. A common deletion at D6S265 in the hemochromatosis gene region

    Energy Technology Data Exchange (ETDEWEB)

    Pyper, W.R.; Burt, M.J.; Powell, L.W. [Queensland Institute of Medical Research and Department of Medicine, Brisbane (Australia)] [and others

    1994-09-01

    Positional cloning of the hemochromatosis (HC) gene on chromosome 6p has utilized a number of highly polymorphic microsatellite markers. While the putative HC gene has been localized within 1 cM of HLA-A, definition of the genetic limits of the HC locus has been controversial. Isolation and characterization of additional markers within this region will enable construction of a physical map upon which the HC gene can located. D6S265 is one such microsatellite, physically mapped within 120 kb centromeric of HLA-A. Recombinant and linkage analysis of this dinucleotide repeat in 24 Australian families segregating for HC positioned D6S265 within 1 cM of the HC gene, while allele association analysis showed allele 1 to be significantly increased in HC patients ({chi}{sup 2}=41.4, p<0.001, RR=5.75). In 6 of the 24 HC families, a D6265 locus deletion was found to segregate with HLA-A25 and HLA-A26 alleles. The D6S265 locus deletion was not associated with expression of HC. This study enables us to exclude candidate HC genes from the deleted region involving D6S265, and gives further support for an area of instability in the HLA class I region.

  16. [Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].

    Science.gov (United States)

    Yuanfeng, Li; Hongxing, Zhang; Haitao, Zhang; Xiaobo, Peng; Lili, Bai; Fuchu, He; Zewu, Qiu; Gangqiao, Zhou

    2014-11-01

    Hereditary hemochromatosis (HHC) is a rare autosomal recessive disorder. We recruited a consanguineous Chinese family including the proband with HHC and other four members without HHC. Using whole-exome sequencing, we identified two homozygous mutations (c.G18C [p.Q6H] and c.GC962_963AA [p.C321X]) in the hemojuvelin gene (HJV) in the proband with HHC. No mutation was found in other four previously identified HHC related genes, HAMP, TFR2, FPN and HFE. The functional impact of p.Q6H mutation is weak whereas p.C321X, a premature termination mutation, results in a truncated HJV protein, which lacks the glycosylphosphatidylinositol (GPI) anchor domain. In addition to the mutations in HJV, other 12 homozygous mutations were identified in this patient. However, none of these mutations showed strong damaging impact and the mutated genes are not related to iron metabolism. Our in-house data further demonstrated that p.C321X is absent in the general Chinese population, suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with HHC. Accordingly, all of the four members without HHC from the same family carried wild-type alleles or heterozygous mutations, but not the homozygous mutation in this site. Thus, we found for the first time that the homozygous mutation p.C321X in HJV can result in HHC, which will help genetic diagnosis and prenatal counseling for HHC.

  17. Properties of donated red blood cell components from patients with hereditary hemochromatosis.

    Science.gov (United States)

    Sut, Caroline; Hamzeh-Cognasse, Hind; Laradi, Sandrine; Bost, Vincent; Aubrège, Christine; Acquart, Sophie; Vignal, Martine; Boutahar, Nadia; Arthaud, Charles Antoine; Ange Eyraud, Marie; Pozzetto, Bruno; Tiberghien, Pierre; Garraud, Olivier; Cognasse, Fabrice

    2017-01-01

    Red blood cells (RBCs) contain large amounts of iron, and periodic therapeutic phlebotomy is thus the main treatment for hereditary hemochromatosis (HH). However, the donation of therapeutic phlebotomy products from asymptomatic patients for transfusion purposes remains controversial. In this study, we compared the quality of RBCs obtained from HH patients with those of non-HH RBCs, within the allowed 42-day storage period. RBCs were obtained from HH patient donors and random regular blood donors by whole blood collection. RBCs were stored for up to 42 days, according to national regulations and standard blood bank conditions in France. The following variables were assessed: hematologic and biochemical results, RBC membrane and soluble inflammatory markers, and the proinflammatory potential of HH RBC supernatant toward endothelial cells in an in vitro model. There were no major differences between the two groups in terms of biophysical, biochemical, or soluble immunomodulatory factors. However, we observed small but significant differences in changes in RBC membrane proteins during storage, including increased phosphatidylserine expression and decreased hemolysis in HH compared with normal RBCs. However, there were no differences in terms of bioactivity of soluble immunomodulatory factors in the RBC supernatant during storage between HH and control donors, as determined by their effects on endothelial cells in vitro. These in vitro studies suggest that RBCs from HH patients appear, while exhibiting subtle differences, to be suitable for transfusion purposes according to currently accepted criteria. © 2016 AABB.

  18. Hereditary hemochromatosis: perspectives of public health, medical genetics, and primary care.

    Science.gov (United States)

    Imperatore, Giuseppina; Pinsky, Linda E; Motulsky, Arno; Reyes, Michele; Bradley, Linda A; Burke, Wylie

    2003-01-01

    Hereditary hemochromatosis (HHC) is a condition characterized by excess iron in body tissues, resulting in complications such as cirrhosis, cardiomyopathy, diabetes, and arthritis. These complications usually manifest during adulthood. Two methods of screening for the detection of early stage of HHC are available: serum iron measures and molecular testing to detect mutations in the gene. These phenotypic and genotypic screening tests are of particular interest because a simple treatment-periodic phlebotomy-can be used to prevent iron accumulation and clinical complications. HHC might represent the first adult-onset genetic disorder for which universal population-based screening would be appropriate. Therefore, HHC has been proposed as a paradigm for the introduction of adult genetic diseases into clinical and public health practice. However, universal screening for HHC has not been recommended because of the uncertainty about the natural history of the iron overload or HHC and, in particular, uncertainty about the prevalence of asymptomatic iron overload and the likelihood that it will progress to clinical complications. If universal screening is not appropriate based on current data, what other measures might reduce the disease burden of iron overload? New studies provide more systematic information about the penetrance of the C282Y mutation and shed further light on the natural history of the disorder. The authors review these data and consider their implications for public health, medical genetics, and primary care.

  19. Structural basis of urea-induced unfolding: Unraveling the folding pathway of hemochromatosis factor E.

    Science.gov (United States)

    Khan, Parvez; Prakash, Amresh; Haque, Md Anzarul; Islam, Asimul; Hassan, Md Imtaiyaz; Ahmad, Faizan

    2016-10-01

    Hereditary hemochromatosis factor E (HFE) is a type 1 transmembrane protein, and acts as a negative regulator of iron-uptake. The equilibrium unfolding and conformational stability of the HFE protein was examined in the presence of urea. The folding and unfolding transitions were monitored with the help of circular dichroism (CD), intrinsic fluorescence and absorption spectroscopy. Analysis of transition curves revealed that the folding of HFE is not a two-state process. However, it involved stable intermediates. Transition curves (plot of fluorescence (F346) and CD signal at 222nm (θ222) versus [Urea], the molar urea concentration) revealed a biphasic transition with midpoint (Cm) values at 2.88M and 4.95M urea. Whereas, absorption analysis shows one two-state transition centered at 2.96M. To estimate the protein stability, denaturation curves were analyzed for Gibbs free energy change in the absence of urea (ΔGD(0)) associated with the equilibrium of denaturation exist between native state↔denatured state. The intermediate state was further characterized by hydrophobic probe, 1-anilinonaphthalene-8-sulfonic acid (ANS-binding). For seeing the effect of urea on the structure and dynamics of HFE, molecular dynamics simulation for 60ns was also performed. A clear correspondence was established between the in vitro and in silico studies.

  20. Neonatal noninvasive ventilation techniques: do we really need to intubate?

    Science.gov (United States)

    DiBlasi, Robert M

    2011-09-01

    The current trend for supporting neonates with respiratory distress syndrome is nasal continuous positive airway pressure (CPAP). Nearly half of all neonates who are supported with CPAP will still develop respiratory failure that requires potentially injurious endotracheal intubation and invasive ventilation. Thus, the role of any neonatal clinician is to minimize invasive ventilation whenever possible, to avoid the multitude of complications that can arise when using this form of therapy. Noninvasive ventilation (NIV) is a form of respiratory assistance that provides greater respiratory support than does CPAP and may prevent intubation in a larger fraction of neonates who would otherwise fail CPAP. With the inception of nasal airway interfaces, clinicians have ushered in many different forms of NIV in neonates, often with very little experimental data to guide management. This review will explore in detail all of the different forms of neonatal NIV that are currently focused within an area of intense clinical investigation.

  1. High mortality among children with gastroschisis after the neonatal period

    DEFF Research Database (Denmark)

    Risby, Kirsten; Husby, Steffen; Qvist, Niels

    2017-01-01

    BACKGROUND: During the last decades neonatal outcomes for children born with gastroschisis have improved significantly. Survival rates >90% have been reported. Early prenatal diagnosis and increased survival enforce the need for valid data for long-term outcome in the pre- and postnatal counseling...... of parents with a child with gastroschisis. METHODS: Long-term follow-up on all newborns with gastroschisis at Odense University Hospital (OUH) from January 1 1997-December 31 2009. Follow-up included neonatal chart review for neonatal background factors, including whether a GORE(®)DUALMESH was used...... the neonatal period and four died after the neonatal period. Parenteral nutrition (PN) induced liver failure and suspected adhesive small bowel obstruction were the causes of deaths after the neonatal period. Overall mortality was high in the "complex" group compared to the simple group (3/7 (42.9%) vs 4/64 (6...

  2. Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study

    OpenAIRE

    Barton, JC; Acton, RT; Lovato, L; Speechley, MR; McLaren, CE; Harris, EL; Reboussin, DM; Adams, PC; Dawkins, FW; Gordeuk, VR; Walker, AP; Dixon, D.; Ferguson, S; Jones, R.; McKnight, J

    2006-01-01

    We compared initial screening transferrin saturation (TfSat) and serum ferritin (SF) phenotypes and HFE C282Y and H63D genotypes of 645 Native American and 43,453 white Hemochromatosis and Iron Overload Screening Study participants who did not report a previous diagnosis of hemochromatosis or iron overload. Elevated measurements were defined as TfSat >50% in men and >45% in women and SF>300 ng/ml in men and >200 ng/ml in women. Mean TfSat was 31% in Native American men and 32% in white men (p...

  3. Splenic hemochromatosis incidentally found on Tc-99m MDP bone scan in a chronic myelogenous leukemia patient who received bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Byeong Cheol; Seo, Ji Hyoung; Bae, Jin Ho; Jeong, Sin Young; Lee, Jae Tae; Lee, Kyu Bo [School of Medicine, Kyungpook National Univ., Daegu (Korea, Republic of)

    2004-02-01

    Tc-99m MDP bone scan was performed to evaluate a generalized bone pain in a 24-year-old male chronic myelogenous leukemia patient who received bone marrow transplantation at 7 months ago. The patient had received large amounts of blood transfusion for managing symptoms related to anemia. Bone scan revealed substantial splenic tracer uptake. Magnetic resonance image and laboratory evidence of hemochromatosis suggests that the presence of large quantities of iron in the spleen of this patient may have been responsible for the splenic uptake of the bone scanning agent. The authors report a c ase of splenic hemochromatosis incidentally found on Tc-99m MDP bone scan.

  4. Effect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with HFE C282Y homozygosity

    Directory of Open Access Journals (Sweden)

    Barton Ellen H

    2006-03-01

    Full Text Available Abstract Background In age-matched cohorts of screening study participants recruited from primary care clinics, mean serum transferrin saturation values were significantly lower and mean serum ferritin concentrations were significantly higher in Native Americans than in whites. Twenty-eight percent of 80 Alabama white hemochromatosis probands with HFE C282Y homozygosity previously reported having Native American ancestry, but the possible effect of this ancestry on hemochromatosis phenotypes was unknown. Methods We compiled observations in these 80 probands and used univariate and multivariate methods to analyze associations of age, sex, Native American ancestry (as a dichotomous variable, report of ethanol consumption (as a dichotomous variable, percentage transferrin saturation and loge serum ferritin concentration at diagnosis, quantities of iron removed by phlebotomy to achieve iron depletion, and quantities of excess iron removed by phlebotomy. Results In a univariate analysis in which probands were grouped by sex, there were no significant differences in reports of ethanol consumption, transferrin saturation, loge serum ferritin concentration, quantities of iron removed to achieve iron depletion, and quantities of excess iron removed by phlebotomy in probands who reported Native American ancestry than in those who did not. In multivariate analyses, transferrin saturation (as a dependent variable was not significantly associated with any of the available variables, including reports of Native American ancestry and ethanol consumption. The independent variable quantities of excess iron removed by phlebotomy was significantly associated with loge serum ferritin used as a dependent variable (p e serum ferritin was the only independent variable significantly associated with quantities of excess iron removed by phlebotomy used as a dependent variable (p Conclusion We conclude that the iron-related phenotypes of hemochromatosis probands with HFE

  5. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.

    Science.gov (United States)

    Pronicka, Ewa; Węglewska-Jurkiewicz, Anna; Taybert, Joanna; Pronicki, Maciej; Szymańska-Dębińska, Tamara; Karkucińska-Więckowska, Agnieszka; Jakóbkiewicz-Banecka, Joanna; Kowalski, Paweł; Piekutowska-Abramczuk, Dorota; Pajdowska, Magdalena; Socha, Piotr; Sykut-Cegielska, Jolanta; Węgrzyn, Grzegorz

    2011-02-01

    Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four affected patients (14% of the studied group), two homozygotes, one compound heterozygote, and one heterozygote, with DGUOK mutation found on only one allele, were identified. Three known pathogenic mutations in the DGUOK gene were detected, c.3G>A (p.Met1Ile), c.494A>T (p.Glu165Val), and c.766_767insGATT (p.Phe256X), and one novel molecular variant of unknown pathogenicity, c.813_814insTTT (p.Asn271_Thr272insPhe). Profound mitochondrial DNA depletion was confirmed in available specimens of the liver (4%, 15%, and 10% of the normal value) and in the muscle (4%, 23%, 45%, and 6%, respectively). The patients were born with low weights for gestational age and they presented adaptation trouble during the first days of life. Subsequently, liver failure developed, leading to death at the ages of 18, 6, 5.5, and 2.25 months, respectively. Mild neurological involvement was observed in all children (hypotonia, psychomotor retardation, and ptosis). Hypoglycemia (hypoketotic) and lactic acidosis were the constant laboratory findings. Elevated transferrin saturation, high ferritin, and alpha-fetoprotein levels resembled, in two cases, a neonatal hemochromatosis. Liver histopathology showed severe hepatic damage ranging from micronodular formation and cirrhosis to the total loss of liver architecture with diffuse fibrosis and neocholangiolar proliferation. Pancreatic islet cell hyperplasia with numerous confluent giant islets was found in both autopsied infants. Analysis of the natural history of the disease in our patients and the literature data led us to the following observations: (i) islet cell hyperplasia (and hyperinsulinism) may contribute to MDS-associated hypoglycemia; (ii

  6. Emerging Piglet Models of Neonatal Short Bowel Syndrome.

    Science.gov (United States)

    Lim, David W; Turner, Justine M; Wales, Paul W

    2015-08-01

    Short bowel syndrome (SBS) is a growing problem in the human neonatal population. In infants, SBS is the leading cause of intestinal failure, the state of being unable to absorb sufficient nutrients for growth and development. Neonates with SBS are dependent on long-term parenteral nutrition therapy, but many succumb to the complications of sepsis and liver disease. Research in neonatal SBS is challenged by the ethical limits of studying sick human neonates and the heterogeneous nature of the disease process. Outcomes in SBS vary depending on residual intestinal anatomy, intestinal length, patient age, and exposure to nutrition therapies. The neonatal piglet serves as an appropriate translational model of the human neonate because of similarities in gastrointestinal ontogeny, physiological maturity, and adaptive processes. Re-creating the disease process in a piglet model presents a unique opportunity for researchers to discover novel insights and therapies in SBS. Emerging piglet models of neonatal SBS now represent the entire spectrum of disease seen in human infants. This review aims to contextualize these emerging piglet models within the context of SBS as a heterogeneous disease. We first explore the factors that account for SBS heterogeneity and then explore the suitability of the neonatal piglet as an appropriate translational animal model. We then examine differences between the emerging piglet models of neonatal SBS and how these differences affect their translational potential to human neonates with SBS.

  7. Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

    DEFF Research Database (Denmark)

    Ygland, Emil; Taroni, Franco; Gellera, Cinzia

    2014-01-01

    BACKGROUND: Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA). METHODS: We identified three Swedish FRDA patients with an FXN p.R165P missense mutation and compared their clinical features with six......, and were more independent in activities of daily living. One p.R165P mutation carrier developed psychosis. Frataxin levels were higher than in homozygous trinucleotide expansion patients. One patient with homozygous trinucleotide repeat expansions and comorbid hemochromatosis had more severe FRDA symptoms...

  8. Frequency of the Hemochromatosis Gene (HFE Variants in a Jordanian Arab Population and in Diabetics from the Same Region

    Directory of Open Access Journals (Sweden)

    Asem Alkhateeb

    2009-01-01

    Full Text Available Hereditary HFE-linked hemochromatosis is a frequent recessive disorder among individuals of northern European ancestry. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately may lead to organ damage and death. Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload. In this study we performed mutation analysis to identify allele frequency of the three variants of HFE gene in Jordanian Arab population, to assess deviations of these frequencies from those detected elsewhere, and to determine if there is an increased frequency of these variants in a diabetic population (Type 2 diabetes from the same area. DNA was extracted from blood samples of 440 individuals attending King Abdullah University Hospital for ambulatory services. We used polymerase chain reaction (PCR to amplify exons 2 and 4 of the HFE gene then restriction fragment length polymorphism (RFLP method to detect the variants. There were neither homozygous nor heterozygous for C282Y variant. For the H63D variant, 0.68% were homozygous and 21.1% were heterozygous. For the S65C variant, there were no homozygous and 0.23% were heterozygous. Allelic frequencies were, 0%, 11.25%, and 0.11% for C282Y, H63D, and S65C, respectively. Our samples were subdivided into two categories of type 2 diabetic (89 cases and controls (blood donors, 204 cases and compared with regard to the H63D variant. Both groups did not have homozygous H63D variant. H63D heterozygous in diabetics were 23.60% and in blood donor controls 22.55%. Allelic frequency of the mutant H63D allele was 11.80% in diabetics and 11.27% for the blood donor controls. This is the first study to show the frequency of the three hemochromatosis gene variants in Jordan with the interesting

  9. Does rapidly progressive iron overload in a young girl with sideroblastic anemia also signify the presence of hereditary hemochromatosis?

    Science.gov (United States)

    Scimeca, P G; Weinblatt, M E; Kahn, E; Kochen, J A

    1994-01-01

    A severely anemic 3-year-old girl with refractory sideroblastic anemia and fulminant, fatal hemochromatosis is described. The patient had transfusion-dependent anemia with clinical cardiac, liver, and endocrine dysfunction that resulted from iron loading. The patient was minimally transfused, and deferoxamine chelation was started at age 34 months. Despite treatment, the patient died at age 46 months as a result of severe iron overload. Sideroblastic anemia and iron overload in childhood are reviewed, and a pathophysiologic mechanism for the patient's clinical course is postulated.

  10. Routine neonatal circumcision?

    OpenAIRE

    Tran, P. T.; Giacomantonio, M.

    1996-01-01

    Routine neonatal circumcision is still a controversial procedure. This article attempts to clarify some of the advantages and disadvantages of neonatal circumcision. The increased rate of penile cancer among uncircumcised men appears to justify the procedure, but that alone is not sufficient justification. The final decision on neonatal circumcision should be made by parents with balanced counsel from attending physicians.

  11. SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis

    Directory of Open Access Journals (Sweden)

    Vulpe Chris D

    2008-03-01

    Full Text Available Abstract Background We report our experience of selecting tag SNPs in 35 genes involved in iron metabolism in a cohort study seeking to discover genetic modifiers of hereditary hemochromatosis. Methods We combined our own and publicly available resequencing data with HapMap to maximise our coverage to select 384 SNPs in candidate genes suitable for typing on the Illumina platform. Results Validation/design scores above 0.6 were not strongly correlated with SNP performance as estimated by Gentrain score. We contrasted results from two tag SNP selection algorithms, LDselect and Tagger. Varying r2 from 0.5 to 1.0 produced a near linear correlation with the number of tag SNPs required. We examined the pattern of linkage disequilibrium of three levels of resequencing coverage for the transferrin gene and found HapMap phase 1 tag SNPs capture 45% of the ≥ 3% MAF SNPs found in SeattleSNPs where there is nearly complete resequencing. Resequencing can reveal adjacent SNPs (within 60 bp which may affect assay performance. We report the number of SNPs present within the region of six of our larger candidate genes, for different versions of stock genotyping assays. Conclusion A candidate gene approach should seek to maximise coverage, and this can be improved by adding to HapMap data any available sequencing data. Tag SNP software must be fast and flexible to data changes, since tag SNP selection involves iteration as investigators seek to satisfy the competing demands of coverage within and between populations, and typability on the technology platform chosen.

  12. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

    Directory of Open Access Journals (Sweden)

    Ka Chandran

    2005-06-01

    Full Text Available Abstract Background Hereditary hemochromatosis (HH is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE, and of its main mutation (C282Y, has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. Methods We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. Results In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p -5, meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p Conclusion This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients.

  13. Neonatal varicella pneumonia, surfactant replacement therapy

    Directory of Open Access Journals (Sweden)

    Mousa Ahmadpour-kacho

    2015-12-01

    Full Text Available Background: Chickenpox is a very contagious viral disease that caused by varicella-zoster virus, which appears in the first week of life secondary to transplacental transmission of infection from the affected mother. When mother catches the disease five days before and up to two days after the delivery, the chance of varicella in neonate in first week of life is 17%. A generalized papulovesicular lesion is the most common clinical feature. Respiratory involvement may lead to giant cell pneumonia and respiratory failure. The mortality rate is up to 30% in the case of no treatment, often due to pneumonia. Treatment includes hospitalization, isolation and administration of intravenous acyclovir. The aim of this case report is to introduce the exogenous surfactant replacement therapy after intubation and mechanical ventilation for respiratory failure in neonatal chickenpox pneumonia and respiratory distress. Case Presentation: A seven-day-old neonate boy was admitted to the Neonatal Intensive Care Unit at Amirkola Children’s Hospital, Babol, north of Iran, with generalized papulovesicular lesions and respiratory distress. His mother has had a history of Varicella 4 days before delivery. He was isolated and given supportive care, intravenous acyclovir and antibiotics. On the second day, he was intubated and connected to mechanical ventilator due to severe pneumonia and respiratory failure. Because of sever pulmonary involvement evidenced by Chest X-Ray and high ventilators set-up requirement, intratracheal surfactant was administered in two doses separated by 12 hours. He was discharged after 14 days without any complication with good general condition. Conclusion: Exogenous surfactant replacement therapy can be useful as an adjunctive therapy for the treatment of respiratory failure due to neonatal chickenpox.

  14. Neonatal Venous Thromboembolism

    Directory of Open Access Journals (Sweden)

    Kristina M. Haley

    2017-06-01

    Full Text Available Neonates are the pediatric population at highest risk for development of venous thromboembolism (VTE, and the incidence of VTE in the neonatal population is increasing. This is especially true in the critically ill population. Several large studies indicate that the incidence of neonatal VTE is up almost threefold in the last two decades. Central lines, fluid fluctuations, sepsis, liver dysfunction, and inflammation contribute to the risk profile for VTE development in ill neonates. In addition, the neonatal hemostatic system is different from that of older children and adults. Platelet function, pro- and anticoagulant proteins concentrations, and fibrinolytic pathway protein concentrations are developmentally regulated and generate a hemostatic homeostasis that is unique to the neonatal time period. The clinical picture of a critically ill neonate combined with the physiologically distinct neonatal hemostatic system easily fulfills the criteria for Virchow’s triad with venous stasis, hypercoagulability, and endothelial injury and puts the neonatal patient at risk for VTE development. The presentation of a VTE in a neonate is similar to that of older children or adults and is dependent upon location of the VTE. Ultrasound is the most common diagnostic tool employed in identifying neonatal VTE, but relatively small vessels of the neonate as well as frequent low pulse pressure can make ultrasound less reliable. The diagnosis of a thrombophilic disorder in the neonatal population is unlikely to change management or outcome, and the role of thrombophilia testing in this population requires further study. Treatment of neonatal VTE is aimed at reducing VTE-associated morbidity and mortality. Recommendations for treating, though, cannot be extrapolated from guidelines for older children or adults. Neonates are at risk for bleeding complications, particularly younger neonates with more fragile intracranial vessels. Developmental alterations in the

  15. Psychosocial impact of genetic testing for hemochromatosis in the HEIRS Study: a comparison of participants recruited in Canada and in the United States.

    Science.gov (United States)

    Power, Tara E; Adams, Paul C; Barton, James C; Acton, Ronald T; Howe, Edmund; Palla, Shana; Walker, Ann P; Anderson, Roger; Harrison, Barbara

    2007-01-01

    The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 participants recruited from primary-care clinics in Canada and the United States. The present study investigated differences in the psychological effects of genetic screening for hemochromatosis (HFE mutation analysis) in participants from each country. Study participants comprised a subset of 2,654 individuals who donated blood for HFE mutation analysis. The initial screening and 1-month post-result questionnaires included measures of General Health, Mental Health (SF-36), and a measure of the percentage of individuals who experienced at least one example of worry in response to the genetic testing. Participants reported similar changes in general health and mental health, regardless of mutation result, or country. Although a significantly lower percentage of Canadian participants than U.S. participants indicated at least one negative emotional response to the genetic testing, greater than 50% of C282Y homozygote participants (the gene mutation most strongly associated with hemochromatosis) from both countries experienced such in response to testing. Thus, although not serious enough to affect individuals' mental or physical health, there was evidence of at least one element of negative emotional response to the genetic testing. These findings suggest that population screening for common HFE mutations associated with hemochromatosis risk has similar psychological effects on Canadian and U.S. individuals, although fewer Canadians may experience a negative response to such testing.

  16. Neuroimagem na degeneração hepatocerebral induzida por hemocromatose Neuroimage findings in hepatocerebral degeneration induced by hemochromatosis

    Directory of Open Access Journals (Sweden)

    Antonio Luiz dos Santos Werneck

    1997-09-01

    Full Text Available São demonstradas alterações transitórias bipalidais caracterizadas por hiperintensidade na sequência T1 da ressonância nuclear magnética, que ocorreram em um paciente com degeneração hepatocerebral adquirida provocada por hemocromatose. Em função de acrescentar-se a este sinal a visibilização de imagem de hiperintensidade bitalâmica na seqüência T2, discute-se a hipótese destes sinais serem unicamente secundários à degeneração hepatocerebral ou, ainda, se teriam sido também originados pela própria hemocromatose.Transitory changes are shown through T1 - weighted MRI bipallidal hyperintensity in a patient with acquired hepatocerebral degeneration induced by hemochromatosis. In addition we discuss about the possibility of this image associated with thalamic hyperintensity on T2 - weighted also seen in this case, was just secondary to hepatocerebral degeneration, or if they could be caused by hemochromatosis itself.

  17. SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis.

    Science.gov (United States)

    Jenkitkasemwong, Supak; Wang, Chia-Yu; Coffey, Richard; Zhang, Wei; Chan, Alan; Biel, Thomas; Kim, Jae-Sung; Hojyo, Shintaro; Fukada, Toshiyuki; Knutson, Mitchell D

    2015-07-01

    Nearly all forms of hereditary hemochromatosis are characterized by pathological iron accumulation in the liver, pancreas, and heart. These tissues preferentially load iron because they take up non-transferrin-bound iron (NTBI), which appears in the plasma during iron overload. Yet, how tissues take up NTBI is largely unknown. We report that ablation of Slc39a14, the gene coding for solute carrier SLC39A14 (also called ZIP14), in mice markedly reduced the uptake of plasma NTBI by the liver and pancreas. To test the role of SLC39A14 in tissue iron loading, we crossed Slc39a14(-/-) mice with Hfe(-/-) and Hfe2(-/-) mice, animal models of type 1 and type 2 (juvenile) hemochromatosis, respectively. Slc39a14 deficiency in hemochromatotic mice greatly diminished iron loading of the liver and prevented iron deposition in hepatocytes and pancreatic acinar cells. The data suggest that inhibition of SLC39A14 may mitigate hepatic and pancreatic iron loading and associated pathologies in iron overload disorders.

  18. Immunological Defects in Neonatal Sepsis and Potential Therapeutic Approaches

    Science.gov (United States)

    Raymond, Steven L.; Stortz, Julie A.; Mira, Juan C.; Larson, Shawn D.; Wynn, James L.; Moldawer, Lyle L.

    2017-01-01

    Despite advances in critical care medicine, neonatal sepsis remains a major cause of morbidity and mortality worldwide, with the greatest risk affecting very low birth weight, preterm neonates. The presentation of neonatal sepsis varies markedly from its presentation in adults, and there is no clear consensus definition of neonatal sepsis. Previous work has demonstrated that when neonates become septic, death can occur rapidly over a matter of hours or days and is generally associated with inflammation, organ injury, and respiratory failure. Studies of the transcriptomic response by neonates to infection and sepsis have led to unique insights into the early proinflammatory and host protective responses to sepsis. Paradoxically, this early inflammatory response in neonates, although lethal, is clearly less robust relative to children and adults. Similarly, the expression of genes involved in host protective immunity, particularly neutrophil function, is also markedly deficient. As a result, neonates have both a diminished inflammatory and protective immune response to infection which may explain their increased risk to infection, and their reduced ability to clear infections. Such studies imply that novel approaches unique to the neonate will be required for the development of both diagnostics and therapeutics in this high at-risk population. PMID:28224121

  19. SERUM FERRITIN CONCENTRATION IS NOT A RELIABLE BIOMARKER OF IRON OVERLOAD DISORDER PROGRESSION OR HEMOCHROMATOSIS IN THE SUMATRAN RHINOCEROS (DICERORHINUS SUMATRENSIS).

    Science.gov (United States)

    Roth, Terri L; Reinhart, Paul R; Kroll, Jennifer L

    2017-09-01

    The aim of this study was to determine if ferritin is a reliable biomarker of iron overload disorder (IOD) progression and hemochromatosis in the Sumatran rhinoceros (Dicerorhinus sumatrensis) by developing a species-specific ferritin assay and testing historically banked samples collected from rhinos that did and did not die of hemochromatosis. Ferritin extracted from Sumatran rhino liver tissue was used to generate antibodies for the Enzyme Immunoassay. Historically banked Sumatran rhino serum samples (n = 298) obtained from six rhinos in US zoos (n = 290); five rhinos at the Sumatran Rhino Conservation Centre in Sungai Dusun, Malaysia (n = 5); and two rhinos in Sabah, Malaysia (n = 3) were analyzed for ferritin concentrations. Across all US zoo samples, serum ferritin concentrations ranged from 348 to 7,071 ng/ml, with individual means ranging from 1,267 (n = 25) to 2,604 ng/ml (n = 36). The ferritin profiles were dynamic, and all rhinos exhibited spikes in ferritin above baseline during the sampling period. The rhino with the highest mean ferritin concentration did not die of hemochromatosis and exhibited only mild hemosiderosis postmortem. A reproductive female exhibited decreases and increases in serum ferritin concurrent with pregnant and nonpregnant states, respectively. Mean (±SD) serum ferritin concentration for Sumatran rhinos in Malaysia was high (4,904 ± 4,828 ng/ml) compared to that for US zoo rhinos (1,835 ± 495 ng/ml). However, those in Sabah had lower ferritin concentrations (1,025 ± 52.7 ng/ml) compared to those in Sungai Dusun (6,456 ± 4,941 ng/ml). In conclusion, Sumatran rhino serum ferritin concentrations are dynamic, and increases often are not associated with illness or hemochromatosis. Neither a specific pattern nor the individual's overall mean ferritin concentration can be used to accurately assess IOD progression or diagnose hemochromatosis in this rhino species.

  20. Localization of the hemochromatosis gene close to D6S105

    Energy Technology Data Exchange (ETDEWEB)

    Jazwinska, E.C.; Lee, S.C.; Webb, S.I.; Halliday, J.W.; Powell, L.W. (Queensland Institute of Medical Research, Brisbane (Australia))

    1993-08-01

    The hemochromatosis (HC) gene is known to be linked to HLA-A (6p21.3); however, its precise location has been difficult to determine because of a lack of additional highly polymorphic markers for this region. The recent identification of short tandem repeat sequences (microsatellites) has now provided this area with a number of markers with similar polymorphic index to the HLA serological polymorphisms. Using four microsatellites - D6S105, D6S109, D6S89, and F13A - together with the HLA class I loci HLA-A and HLA-B in 13 large pedigrees clearly segregating for HC, the authors have been able to refine the location of the HC gene. They identified no recombination between HC and HLA-A or D6S105, and two-point analyses placed the HC gene within one centimorgan (cM) of HLA-A and D6S105. The markers HLA-B, D6S109, D6S89, and F13A were separated from the HC locus by recombination, defining the centromeric and telomeric limits for the HC gene as HLA-B and D5S109, respectively. A multipoint map constructed using HLA-B, HLA-A, and D6S109 indicates that the HC gene is located in a region less than 1 cM proximal to HLA-A and less than 1 cM telomeric of HLA-A. These pedigree data indicate an association between HC and specific alleles at HLA-A and D6S105 (i.e., HLA-A3 and D6S105 allele 8). To determine the significance of these allelic associations, the authors have analyzed the allele's frequency in 82 unrelated HC patients and 82 unrelated healthy controls. D6S105 allele 8 was present in 93% of patients and only 21% of controls ([chi][sup 2] = 86.46; P < .0001). The approximate relative risk for this allele was 48.4 HLA-A3 was present in 62% of patients and 26% of controls ([chi][sup 2] = 22.28; P<.001). Approximate relative risk for A3 was 4.8. They conclude that the microsatellite marker D6S105 is the closest marker to the HC gene reported to date. 26 refs., 1 fig., 3 tabs.

  1. 循证护理在机械通气治疗新生儿呼吸衰竭中的应用效果%Application of Evidence-based Nursing to Mechanical Ventilation in the Treatment for Neonatal Respiratory Failure

    Institute of Scientific and Technical Information of China (English)

    陈英; 张谷雨; 黄丽; 王春香

    2014-01-01

    目的:探讨循证护理措施在机械通气治疗新生儿呼吸衰竭中的应用效果。方法:给予51例患儿机械通气治疗,其中25例采用双水平气道正压通气(BIPAP)模式,26例采用同步间歇指令通气(SIMV)+压力控制通气(PCV)模式。治疗期间给予循证护理,即采用循证护理-循证支持-循证评价-循证应用步骤。观察机械通气治疗前、治疗24小时动脉血气分析变化。结果:治疗24小时后,新生儿PaCO2、PO2、PH明显改善(P<0.05)。结论:在采用机械通气治疗新生儿呼吸衰竭的同时给予循证护理,可明显改善动脉血气相关指标。%Objective:To survey the roles of evidence-based nursing (EBN) played in the treatment for neona-tal respiratory failure by mechanical ventilation. Methods:All 51 cases were treated by mechanical ventilation, a-mong them, 25 cases adopted the mode of bi-level airway positive airway pressure (BIPAP), 26 cases the modes of synchronized intermittent mandatory ventilation (SIMV) and pressure controlled ventilation (PCV). During therapeu-tic period, they were given with EBN, that is, EBN-evidence-based support-evidence-based evaluation-evi-dence-based application steps. The changes of arterial blood gas (ABG) analysis and clinical effects were observed before treating and in 24 hours after treating. Results:In 24 hours after treating, neonatal PaCO2, PO2 and PH were notably improved (P<0.05). Conclusion:EBN is given to the neonate suffering from respiratory failure treated by mechanical ventilation, it could obviously improve the results of ABG and obtain satisfactory effects.

  2. Neonatal septic arthritis.

    Science.gov (United States)

    Halder, D; Seng, Q B; Malik, A S; Choo, K E

    1996-09-01

    Neonatal septic arthritis has always been considered as separate from its counterpart in older children. The condition is uncommon but serious. Affected neonates usually survive, but with permanent skeletal deformities. Ten cases of neonatal septic arthritis were diagnosed between January 1989 and December 1993 in the neonatal intensive care units of two referral hospitals in the state of Kelantan, Malaysia. All except one neonate was born prematurely. The mean age of presentation was 15.6 days. Joint swelling (10/10), increased warmth (7/10) and erythema of the overlying skin (7/10) were the common presenting signs. Vague constitutional symptoms preceded the definitive signs of septic arthritis in all cases. The total white cell counts were raised with shift to the left. The knee (60%) was not commonly affected, followed by the hip (13%) and ankle (13%). Three neonates had multiple joint involvement. Coexistence of arthritis with osteomyelitis was observed in seven neonates. The commonest organism isolated was methicillin resistant Staphylococcus aureus (9/10). Needle aspiration was performed in nine neonates and one had incision with drainage. Follow up data was available for five neonates and two of these had skeletal morbidity. Early diagnosis by frequent examination of the joints, prompt treatment and control of nosocomial infection are important for management.

  3. Enterotoxemia in neonatal calves.

    Science.gov (United States)

    Fleming, S

    1985-11-01

    The incidence, bacterial characteristics, disease syndromes, diagnosis, treatment, and prevention of enterotoxemia of neonatal calves caused by Clostridium perfringens (Types A, B, C, D, and E) are reviewed.

  4. Neonatal extracorporeal membrane oxygenation: A case report and current state in Mainland China

    Directory of Open Access Journals (Sweden)

    Jianguo Zhou

    2016-01-01

    Full Text Available We report the first successful treatment of extracorporeal membrane oxygenation (ECMO in a neonate with Group B streptococcus (GBS sepsis and cardiorespiratory failure, and further conduct a literature review in the experience of neonatal ECMO utility in Mainland China. A term neonate with cardiorespiratory failure secondary to GBS sepsis was put on venous-arterial ECMO at 23 h of age. After 273 h of ECMO running, the patient was saved and without major complications. The comprehensive literature review demonstrated that there were 22 neonates received ECMO previously in Mainland China, 14 of 22 of the patients are cases with congenital heart defects. The overall survival rate was 41% (9/22. Neonatal ECMO was underdeveloped in Mainland, China. Moreover, it does provide a chance of survival for neonates who have a grave prognosis by conventional treatment.

  5. 遗传性血色病的分子机制%The molecular mechanism of hereditary hemochromatosis

    Institute of Scientific and Technical Information of China (English)

    张红红; 刘洪珍

    2008-01-01

    近年来,铁代谢及其调节机制的研究取得了一系列突破性进展,有力地促进了遗传性血色病(hereditary hemochromatosis,HH)的分子机制的研究.本文综述了HH分子机制的最新研究,并从Hepcidin对铁代谢的调节角度探索、分析了其其它可能的机制,针对目前研究面临的困难、缺陷和不足提出了一些建议.

  6. Dietary iron intake and serum ferritin concentration in 213 patients homozygous for the HFEC282Y hemochromatosis mutation.

    Science.gov (United States)

    Gordeuk, Victor R; Lovato, Laura; Barton, James; Vitolins, Mara; McLaren, Gordon; Acton, Ronald; McLaren, Christine; Harris, Emily; Speechley, Mark; Eckfeldt, John H; Diaz, Sharmin; Sholinsky, Phyliss; Adams, Paul

    2012-06-01

    HFEC282Y homozygotes have an increased risk for developing increased iron stores and related disorders. It is controversial whether dietary iron restrictions should be recommended to such individuals. To determine whether dietary iron content influences iron stores in HFEC282Y homozygotes as assessed by serum ferritin concentration. Serum ferritin concentration was measured and a dietary iron questionnaire was completed as part of the evaluation of 213 HFEC282Y homozygotes who were identified through screening of >100,000 primary care patients at five HEmochromatosis and IRon Overload Screening (HEIRS) Study Field Centers in the United States and Canada. No significant relationships between serum ferritin concentration and dietary heme iron content, dietary nonheme iron content or reports of supplemental iron use were found. These results do not support recommending dietary heme or nonheme iron restrictions for HFEC282Y homozygotes diagnosed through screening in North America.

  7. Effect of olfactory manganese exposure on anxiety-related behavior in a mouse model of iron overload hemochromatosis.

    Science.gov (United States)

    Ye, Qi; Kim, Jonghan

    2015-07-01

    Manganese in excess promotes unstable emotional behavior. Our previous study showed that olfactory manganese uptake into the brain is altered in Hfe(-/-) mice, a model of iron overload hemochromatosis, suggesting that Hfe deficiency could modify the neurotoxicity of airborne manganese. We determined anxiety-related behavior and monoaminergic protein expression after repeated intranasal instillation of MnCl2 to Hfe(-/-) mice. Compared with manganese-instilled wild-type mice, Hfe(-/-) mice showed decreased manganese accumulation in the cerebellum. Hfe(-/-) mice also exhibited increased anxiety with decreased exploratory activity and elevated dopamine D1 receptor and norepinephrine transporter in the striatum. Moreover, Hfe deficiency attenuated manganese-associated impulsivity and modified the effect of manganese on the expression of tyrosine hydroxylase, vesicular monoamine transporter and serotonin transporter. Together, our data indicate that loss of HFE function alters manganese-associated emotional behavior and further suggest that HFE could be a potential molecular target to alleviate affective disorders induced by manganese inhalation.

  8. Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First-Degree Relatives

    Directory of Open Access Journals (Sweden)

    James C. Barton

    2015-01-01

    Full Text Available We performed a retrospective study of autoimmune conditions (ACs in 235 hemochromatosis probands at diagnosis by analyzing age, sex, ACs, history of first-degree family members with ACs (FH, diabetes, heavy ethanol consumption, elevated serum ALT/AST, nonalcoholic fatty liver disease, viral hepatitis, cirrhosis, iron removed to achieve iron depletion (QFe, and positivity for human leukocyte antigen (HLA haplotypes A∗01, B∗08; A∗02, B∗44; A∗03, B∗07; A∗03, B∗14; and A∗29, B∗44. There were 138 men (58.7%. Median followup was 19.6 y. One or more of 19 ACs were diagnosed in each of 35 probands (14.9%. Prevalences of Hashimoto’s thyroiditis, rheumatoid arthritis, and ankylosing spondylitis were 8.1% (95% CI: [5.1, 12.5], 1.7% [0.6, 4.6], and 0.0085 [0.0015, 0.0337], respectively. Eighteen probands (7.7% had a FH. Eight probands with ACs had 9 family members with ACs. In a logistic regression, ACs were less likely in men (odds ratio (OR 0.3 [0.1, 0.6] and more likely in probands with a FH (OR 4.1 [1.4, 11.8]. Overall ACs risk was not significantly associated with QFe or HLA haplotypes. Estimated survival of probands with and without ACs did not differ significantly. We conclude that ACs are common in hemochromatosis probands, especially women and probands with a FH.

  9. Effects of hemochromatosis and transferrin gene mutations on iron dyshomeostasis, liver dysfunction and on the risk of Alzheimer's disease.

    Science.gov (United States)

    Giambattistelli, Federica; Bucossi, Serena; Salustri, Carlo; Panetta, Valentina; Mariani, Stefania; Siotto, Mariacristina; Ventriglia, Mariacarla; Vernieri, Fabrizio; Dell'acqua, Maria Luisa; Cassetta, Emanuele; Rossini, Paolo Maria; Squitti, Rosanna

    2012-08-01

    It is now accepted that transition metals, such as iron and copper, are involved in the pathogenesis of the Alzheimer's disease (AD) through their participation in toxic oxidative phenomena. In this context, hemochromatosis (Hfe) and transferrin (Tf) genes are of particular importance, since they play a key role in iron homeostasis. Also, signs of liver distress which accompany metal dysmetabolisms have been shown to be linked to AD. In order to investigate whether and how all these factors are interconnected, in this study we have explored the relationship of the gene variants of Hfe H63D and C282Y and of Tf C2 with serum markers of iron status (iron, ferritin, TF, TF-saturation, ceruloplasmin -CP-, CP and TF serum concentrations (CP/TF) ratio), and of liver function (albumin, transaminases, prothrombin time-prothrombin time (PT)) in a sample of 160 AD patients and 79 healthy elderly controls. Albumin resulted in lower, PT longer and AST/ALT higher ratios in AD patients than in controls, indicating a distress of the liver. Also TF was lower and ferritin higher in AD. Multiple logistic regression backward analyses, performed to evaluate the effects of our biochemical variables upon the probability of developing AD, revealed that a one-unit TF serum-decrease increases the probability of AD by 80%, a one-unit albumin serum-decrease reduces this probability by 20%, and a one-unit increase of AST/ALT ratio generates a 4-fold probability increase. Patients who were carriers of the H63D mutation showed higher levels of iron, lower levels of TF and CP and higher CP/TF ratios, a panel resembling hemochromatosis. This picture was found neither in H63D non-carrier patients, nor in healthy controls. Our results suggest the existence of a link between Hfe mutations and iron abnormalities that increases the probability of developing AD when accompanied by a distress of the liver.

  10. Advances in the study of juvenile hemochromatosis%幼年血色病的研究进展

    Institute of Scientific and Technical Information of China (English)

    郭雪梅; 周荣富; 欧阳建

    2010-01-01

    幼年血色病是一种常染色体隐性遗传病,以组织铁超载和不可逆的脏器损害为特征.发病主要与血幼素(HJV)基因和铁调素基因突变有关,两种基因突变类型引起的疾病表型有差异,且在合并HFE突变的遗传性血色素沉着症中起修饰作用.肝脏分泌的铁调素是体内铁代谢的主要调节者.近年发现HJV介导的骨形态蛋白(BMP)信号通路是调节铁调素表达和铁代谢的一个重要机制.HJV功能缺乏导致肝细胞BMP信号减弱,引起铁调素表达降低,不能有效调节铁代谢.%Juvenile hemochromatosis is an autosomal recessive disease characterized by progressive tissue iron overload which leads to irreversible organ damage and even death.This disease is mainly caused by mutations in two genes:hemojuvelin gene and hepcidin gene.Different mutations have different phenotype.The two genes may act as modifying genes in HFE hemochromatosis.Hepcidin secreted by liver plays a central role in the regulation of iron homeostasis.HJV can act as a bone morphogenetic protein(BMP)co-receptor which is required for HJV to regulate hepcidin expression and iron homeostasis.Recent researches suggest that the bone morphogenetic protein(BMP)signaling pathway mediated by HJV is a significant mechanism for HJV to regulate hepcidin expression and iron homeostasis.HJV mutant impaires BMP signaling which results in hepcidin expression decrease and abnormal iron metabolism.

  11. Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First-Degree Relatives.

    Science.gov (United States)

    Barton, James C; Barton, J Clayborn

    2015-01-01

    We performed a retrospective study of autoimmune conditions (ACs) in 235 hemochromatosis probands at diagnosis by analyzing age, sex, ACs, history of first-degree family members with ACs (FH), diabetes, heavy ethanol consumption, elevated serum ALT/AST, nonalcoholic fatty liver disease, viral hepatitis, cirrhosis, iron removed to achieve iron depletion (QFe), and positivity for human leukocyte antigen (HLA) haplotypes A (∗) 01, B (∗) 08; A (∗) 02, B (∗) 44; A (∗) 03, B (∗) 07; A (∗) 03, B (∗) 14; and A (∗) 29, B (∗) 44. There were 138 men (58.7%). Median followup was 19.6 y. One or more of 19 ACs were diagnosed in each of 35 probands (14.9%). Prevalences of Hashimoto's thyroiditis, rheumatoid arthritis, and ankylosing spondylitis were 8.1% (95% CI: [5.1, 12.5]), 1.7% [0.6, 4.6], and 0.0085 [0.0015, 0.0337], respectively. Eighteen probands (7.7%) had a FH. Eight probands with ACs had 9 family members with ACs. In a logistic regression, ACs were less likely in men (odds ratio (OR) 0.3 [0.1, 0.6]) and more likely in probands with a FH (OR 4.1 [1.4, 11.8]). Overall ACs risk was not significantly associated with QFe or HLA haplotypes. Estimated survival of probands with and without ACs did not differ significantly. We conclude that ACs are common in hemochromatosis probands, especially women and probands with a FH.

  12. Hereditary hemochromatosis: Generation of a transcription map within a refined and extended map of the HLA class I region

    Energy Technology Data Exchange (ETDEWEB)

    Totaro, A.; Grifa, A.; Gasparini, P. [and others

    1996-02-01

    Hereditary hemochromatosis, a common severe inherited disease, maps to the short arm of chromosome 6 close to the HLA-A locus. Recently, linkage data on Italian and French populations confirmed this location, while a similar analysis on Australian and British populations located the gene closer to D6S105, a marker residing telomeric of HLA-A. To increase our knowledge on the region of highest linkage disequilibrium in our population and possibly to identify the disease gene, a 1.2-Mb detailed physical and transcription map was generated, spanning the HLA class I region. Thirty-eight unique cDNA fragments, retrieved following the hybridization of immobilized YACs to primary pools of cDNAs prepared from RNA of fetal brain, adult brain, liver, placenta, and the CaCo{sub 2} cell line, were characterized. All cDNA fragments were positioned in a refined and extended map of the human major histocompatibility complex spanning from HLA-E to approximately 500 kb telomeric of HLA-F. The localization of known genes was refined, and a new gene from the RNA helicase superfamily was identified. Overall, 14 transcription units in addition to the HLA genes have been detected and integrated in the map. Thirteen cDNA fragments show no similarity with known sequences and could be candidates for the disease. Their characterization and assessment for involvement in hemochromatosis are still under investigation. Seven new polymorphisms, some tightly linked to the disease, were also identified and localized. 29 refs., 2 figs., 3 tabs.

  13. [Predictive factors of response to erytrhocytapheresis in patients with biochemical iron overload with or without hereditary hemochromatosis type 1].

    Science.gov (United States)

    Parra Salinas, Ingrid; Montes Limon, Anel; Recasens Flores, Valle; Fernandez-Mosteirin, Nuria; Garcia-Erce, Jose Antonio

    2014-03-04

    Progressive increase of iron stores leads to the development of varied diseases, some of them irreversible. Until now, phlebotomy has been the cornerstone in the treatment of iron overload. Nevertheless, each erytrhocytapheresis procedure removes more than twice the volume of red cells and iron than phlebotomy, allowing to achieve iron depletion in shorter time. Our aim was to describe clinical features and analytical tests parameters of patients with iron overload, to analyze global and subsets results, to suggest predictive factors of response and to evaluate security of the procedure. Descriptive, longitudinal and prospective study of 663 procedures corresponding to 35 patients (December 2002 to October 2011). Response was defined as a serum ferritine value lower than 50 ng/mL during two months. Statistical analysis was done with SPSS(®) v 17.0 and the minimum level of statistical significance was defined as p-value < 0,05. Seventy-seven percent of patients reached response with 11 (interquartile range 1-42) erytrhocytapheresis procedures and at 11 (1-108) months. Eighty-seven point five percent of patients who did not achieve response had their ferritine values reduced in more than 50%. The decrease of all iron metabolism parameters was statistically significant. Statistically significant predictive factors of response to erytrhocytapheresis were: patients younger than 60 years-old, hereditary hemochromatosis cases, and patients who had received treatment with phlebotomies prior to erytrhocytapheresis. Erytrhocytapheresis is a secure and effective procedure for iron depletion in patients with iron overload, especially in high risk hereditary hemochromatosis cases that do not respond to phlebotomies. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  14. Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE.

    Science.gov (United States)

    West, A P; Bennett, M J; Sellers, V M; Andrews, N C; Enns, C A; Bjorkman, P J

    2000-12-08

    The transferrin receptor (TfR) interacts with two proteins important for iron metabolism, transferrin (Tf) and HFE, the protein mutated in hereditary hemochromatosis. A second receptor for Tf, TfR2, was recently identified and found to be functional for iron uptake in transfected cells (Kawabata, H., Germain, R. S., Vuong, P. T., Nakamaki, T., Said, J. W., and Koeffler, H. P. (2000) J. Biol. Chem. 275, 16618-16625). TfR2 has a pattern of expression and regulation that is distinct from TfR, and mutations in TfR2 have been recognized as the cause of a non-HFE linked form of hemochromatosis (Camaschella, C., Roetto, A., Cali, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., and Gasparini, P. (2000) Nat. Genet. 25, 14-15). To investigate the relationship between TfR, TfR2, Tf, and HFE, we performed a series of binding experiments using soluble forms of these proteins. We find no detectable binding between TfR2 and HFE by co-immunoprecipitation or using a surface plasmon resonance-based assay. The affinity of TfR2 for iron-loaded Tf was determined to be 27 nm, 25-fold lower than the affinity of TfR for Tf. These results imply that HFE regulates Tf-mediated iron uptake only from the classical TfR and that TfR2 does not compete for HFE binding in cells expressing both forms of TfR.

  15. Fetal and neonatal thyrotoxicosis

    Directory of Open Access Journals (Sweden)

    Chandar Mohan Batra

    2013-01-01

    Full Text Available Fetal thyrotoxicosis is a rare disease occurring in 1 out of 70 pregnancies with Grave′s disease or in 1 out of 4000-50,000 deliveries. The mortality is 12-20%, usually from heart failure, but other complications are tracheal compression, infections and thrombocytopenia. It results from transfer of thyroid stimulating immunoglobulins from mother to fetus through the placenta. This transplacental transfer begins around 20 th week of pregnancy and reaches its maximum by 30 th week. These autoantibodies bind to the fetal thyroid stimulating hormone (TSH receptors and increase the secretion of the thyroid hormones. The mother has an active autoimmune thyroid disease or has been treated for it in the past. She may be absolutely euthyroid due to past treatment by drugs, surgery or radioiodine ablation, but still have active TSH receptor stimulating autoantibodies, which can cause fetal thyrotoxicosis. The other features of this disease are fetal tachycardia, fetal goiter and history of spontaneous abortions and findings of goiter, ascites, craniosyntosis, fetal growth retardation, maceration and hydrops at fetal autopsy. If untreated, this disease can result in intrauterine death. The treatment for this disease consists of giving carbimazole to the mother, which is transferred through the placenta to the fetus. The dose of carbimazole is titrated with the fetal heart rate. If the mother becomes hypothyroid due to carbimazole, thyroxine is added taking advantage of the fact that very little of thyroxine is transferred across the placenta. Neonatal thyrotoxicosis patients are very sick and require emergency treatment. The goal of the treatment is to normalize thyroid functions as quickly as possible, to avoid iatrogenic hypothyroidism while providing management and supportive therapy for the infant′s specific signs and symptoms.

  16. Disseminated Neonatal Herpes Caused by Herpes Simplex Virus Types 1 and 2

    Science.gov (United States)

    Martic, Jelena; Stanojevic, Maja; Jankovic, Sasa; Nedeljkovic, Jasminka; Nikolic, Ljubica; Pasic, Srdjan; Jankovic, Borisav; Jovanovic, Tanja

    2007-01-01

    Disseminated neonatal herpes simplex virus (HSV) infection is characterized by progressive multiple organ failure and high mortality rates. It can result from infection with either HSV-1 or HSV-2. We report a case of disseminated neonatal herpes that was caused by HSV-1 and HSV-2. PMID:17479897

  17. Congenital hypopituitarism and renal failure

    Directory of Open Access Journals (Sweden)

    Gaurav Atreja

    2011-01-01

    Full Text Available Congenital hypopituitarism is potentially fatal in the newborn period but treatable if the diagnosis is made early. We report a neonate who presented with hypothermia and severe hypoglycemia. He also had undescended testis and micropenis. Initial screening revealed panhypopituitarism, which was corrected promptly. He developed renal failure due to initial cardiovascular compromise related to hypotension but recovered quickly with standard management. Magnetic resonance imaging revealed absent stalk of anterior pituitary.

  18. Complications in neonatal surgery.

    Science.gov (United States)

    Escobar, Mauricio A; Caty, Michael G

    2016-12-01

    Neonatal surgery is recognized as an independent discipline in general surgery, requiring the expertise of pediatric surgeons to optimize outcomes in infants with surgical conditions. Survival following neonatal surgery has improved dramatically in the past 60 years. Improvements in pediatric surgical outcomes are in part attributable to improved understanding of neonatal physiology, specialized pediatric anesthesia, neonatal critical care including sophisticated cardiopulmonary support, utilization of parenteral nutrition and adjustments in fluid management, refinement of surgical technique, and advances in surgical technology including minimally invasive options. Nevertheless, short and long-term complications following neonatal surgery continue to have profound and sometimes lasting effects on individual patients, families, and society. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Causes of Acute Intranatal and Postnatal Hypoxia in Neonatal Infants

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2012-01-01

    Full Text Available Objective: to study the causes of acute intranatal hypoxia and reveal a relationship of placental changes to respiratory failure (RF in newborn infants. Subjects and methods. The investigation included 252 neonates with the complicated course of an early neonatal period. Their gestational age was 26 weeks to 40 weeks, birth weight varied from 850 g to 4100 g. 95.3% of the newborn infants were born with a low Apgar score and RF, which required mechanical ventilation immediately after birth. The neonatal status was clinically evaluated; the values of blood gas composition and acid-base balance were recorded; the pathogen was discharged from the tracheobronchial tree; chest X-ray survey and placental morphological examination were performed. Results. The main cause of neonatal respiratory failure is chronic intrauterine hypoxia caused by placental inflammatory changes and fetal-placental blood circulatory disorders, which gives rise to preterm delivery, cerebral hemodynamic disorders, and neonatal amniotic fluid aspiration. Bacteriological examination of tracheobronchial aspirations showed that no microflora growth occured in the majority of the newborns acute intranatal hypoxia. Enterococcus faecalis and Staphylococcus epidermidis were isolated in 12.3% and 8.7%, respectively. Growth of в-hemolytic streptococcus was observed in 2.8% of cases. The rate of microbial association specific only for rate premature infants with neonatal respiratory distress syndrome (NRDS was 4.8%. Conclusion. Placental changes causing fetal-placental circulatory disorders were ascertained to be responsible for acute intranatal and postnatal neonatal hypoxia. Placental inflammatory changes occurred in the majority of cases, as confirmed by bacteriological examinations of neonatal infants. Isolation of the varying microbial flora in infants with RF to a greater extent is, indicative of the infectious process occurring in the maternal body. Key words: acute intranatal

  20. Hepatic morphology and iron quantitation in perinatal hemochromatosis. Comparison with a large perinatal control population, including cases with chronic liver disease.

    OpenAIRE

    Silver, M M; Valberg, L. S.; Cutz, E; Lines, L. D.; Phillips, M. J.

    1993-01-01

    We compared hepatic morphology, hepatocellular siderosis, extrahepatic parenchymal siderosis, and (by chemical assay of liver and spleen) the amount of elemental iron and copper in 12 cases of perinatal hemochromatosis (PH) with 119 perinatal controls. Controls were subgrouped according to diagnoses based on clinical and autopsy findings; 37 had chronic liver disease, either hepatic fibrosis (17) or cirrhosis (20). Graded semiquantitatively, hepatocellular siderosis varied widely among contro...

  1. Non-mutagenic Suppression of Enterocyte Ferroportin 1 by Chemical Ribosomal Inactivation via p38 Mitogen-activated Protein Kinase (MAPK)-mediated Regulation: EVIDENCE FOR ENVIRONMENTAL HEMOCHROMATOSIS.

    Science.gov (United States)

    Oh, Chang-Kyu; Park, Seong-Hwan; Kim, Juil; Moon, Yuseok

    2016-09-16

    Iron transfer across the basolateral membrane of an enterocyte into the circulation is the rate-limiting step in iron absorption and is regulated by various pathophysiological factors. Ferroportin (FPN), the only known mammalian iron exporter, transports iron from the basolateral surface of enterocytes, macrophages, and hepatocytes into the blood. Patients with genetic mutations in FPN or repeated blood transfusion develop hemochromatosis. In this study, non-mutagenic ribosomal inactivation was assessed as an etiological factor of FPN-associated hemochromatosis in enterocytes. Non-mutagenic chemical ribosomal inactivation disrupted iron homeostasis by regulating expression of the iron exporter FPN-1, leading to intracellular accumulation in enterocytes. Mechanistically, a xenobiotic insult stimulated the intracellular sentinel p38 MAPK signaling pathway, which was positively involved in FPN-1 suppression by ribosomal dysfunction. Moreover, ribosomal inactivation-induced iron accumulation in Caenorhabditis elegans as a simplified in vivo model for gut nutrition uptake was dependent on SEK-1, a p38 kinase activator, leading to suppression of FPN-1.1 expression and iron accumulation. In terms of gene regulation, ribosomal stress-activated p38 signaling down-regulated NRF2 and NF-κB, both of which were positive transcriptional regulators of FPN-1 transcription. This study provides molecular evidence for the modulation of iron bioavailability by ribosomal dysfunction as a potent etiological factor of non-mutagenic environmental hemochromatosis in the gut-to-blood axis. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

  2. Heart Failure

    Science.gov (United States)

    ... heart failure due to systolic dysfunction. http://www.uptodate.com/home. Accessed Sept. 26, 2014. Colucci WS. ... patient with heart failure or cardiomyopathy. http://www.uptodate.com/home. Accessed Sept. 26, 2014. Colucci WS. ...

  3. The neonatal chest

    Energy Technology Data Exchange (ETDEWEB)

    Lobo, Luisa [Servico de Imagiologia Geral do Hospital de Santa Maria, Av. Prof. Egas Moniz, 1649-035 Lisbon (Portugal)]. E-mail: mluisalobo@gmail.com

    2006-11-15

    Lung diseases represent one of the most life threatening conditions in the newborn. Important progresses in modern perinatal care has resulted in a significantly improved survival and decreased morbidity, in both term and preterm infants. Most of these improvements are directly related to the better management of neonatal lung conditions, and infants of very low gestational ages are now surviving. This article reviews the common spectrum of diseases of the neonatal lung, including medical and surgical conditions, with emphasis to the radiological contribution in the evaluation and management of these infants. Imaging evaluation of the neonatal chest, including the assessment of catheters, lines and tubes are presented.

  4. Successful lysis of bilateral renal vein thrombosis following neonatal truncus repair.

    Science.gov (United States)

    Prabhu, Sudesh; Ramakrishnan, Karthik; Alphonso, Nelson; McCaffery, Kevin; Anderson, Ben; Karl, Tom

    2015-01-01

    Renal vein thrombosis (RVT) is the most common noncatheter-related thrombosis encountered in infancy, most of which occurs in neonates. The optimal management strategy for neonatal RVT is unclear. Fibrinolytic and heparin therapy may play a role in preventing chronic renal failure in neonates with bilateral RVT. However, the use of fibrinolytics early after any major surgery requires tremendous caution. In this report, we describe the successful use of fibrinolysis in a neonate with bilateral RVT after repair of truncus arteriosus in the early postoperative period.

  5. 血色病的临床与基础研究进展%Advances in pathophysiology, diagnosis and management of hereditary hemochromatosis

    Institute of Scientific and Technical Information of China (English)

    管宇; 安鹏; 张竹珍; 王福俤

    2012-01-01

    Hereditary Hemochromatosis is an inherited iron overload disease common in people of northern European descent. It is characterized by progressive iron deposition in parenchymal cells of multiple organs, which result from mutations in several genes involved in iron metabolism: HFE, TFR2, HJV, FPN and HAMP. Patients with hereditary hemochromatosis can develop: liver fibrosis, cirrhosis, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, endocrinopathy, arthritis, and skin pigmentation. Our understanding of hemochromatosis has been greatly facilitated by recent and rapid progress made in the study of iron metabolism. This review focuses on the natural history, pathogenesis, diagnosis, and treatment of hereditary hemochromatosis.%遗传性血色病(Hereditary Hemochromatosis,HH)是一种西方常见的遗传性铁过载性疾病.目前已知的血色病基因主要包括HFE、TfR2、HJV、FPN及HAMP.这些基因突变导致大量铁离子逐渐沉积在肝、心、胰腺等脏器的实质细胞,造成组织纤维化和结构改变,最终引起器官功能障碍和衰竭,常见症状有肝硬化、肝癌、糖尿病、心力衰竭、垂体及性腺功能减退、关节疾病和皮肤色素沉着等.当前,机体铁代谢分子机制研究的飞速发展,为深入了解血色病带来了契机.综合铁代谢研究领域最新进展,着重对血色病发展历程、发病机制、临床表现、诊断、治疗及中国血色病现状等方面展开综述.

  6. Monitoring neonates for ototoxicity.

    Science.gov (United States)

    Garinis, Angela C; Kemph, Alison; Tharpe, Anne Marie; Weitkamp, Joern-Hendrik; McEvoy, Cynthia; Steyger, Peter S

    2017-06-22

    Neonates admitted to the neonatal intensive care unit (NICU) are at greater risk of permanent hearing loss compared to infants in well mother and baby units. Several factors have been associated with this increased prevalence of hearing loss, including congenital infections (e.g. cytomegalovirus or syphilis), ototoxic drugs (such as aminoglycoside or glycopeptide antibiotics), low birth weight, hypoxia and length of stay. The aetiology of this increased prevalence of hearing loss remains poorly understood. Here we review current practice and discuss the feasibility of designing improved ototoxicity screening and monitoring protocols to better identify acquired, drug-induced hearing loss in NICU neonates. A review of published literature. We conclude that current audiological screening or monitoring protocols for neonates are not designed to adequately detect early onset of ototoxicity. This paper offers a detailed review of evidence-based research, and offers recommendations for developing and implementing an ototoxicity monitoring protocol for young infants, before and after discharge from the hospital.

  7. Neonatal pain management

    Directory of Open Access Journals (Sweden)

    Tarun Bhalla

    2014-01-01

    Full Text Available The past 2-3 decades have seen dramatic changes in the approach to pain management in the neonate. These practices started with refuting previously held misconceptions regarding nociception in preterm infants. Although neonates were initially thought to have limited response to painful stimuli, it was demonstrated that the developmental immaturity of the central nervous system makes the neonate more likely to feel pain. It was further demonstrated that untreated pain can have long-lasting physiologic and neurodevelopmental consequences. These concerns have resulted in a significant emphasis on improving and optimizing the techniques of analgesia for neonates and infants. The following article will review techniques for pain assessment, prevention, and treatment in this population with a specific focus on acute pain related to medical and surgical conditions.

  8. Sonomammography in Neonatal Mastauxe

    Directory of Open Access Journals (Sweden)

    Sushil Ghanshyam Kachewar

    2015-03-01

    Full Text Available Prominence or even enlargement of one or both breasts is known in neonates. It is believed to be a physiological response to falling levels of maternal estrogen towards last trimester of pregnancy. This input stimulates prolactin release from the newborn's pituitary leading to transient neonatal breast enlargement. This phenomenon is independent of the gender of the neonate. It presents in the first few weeks of life and resolves subsequently. Often fluid discharge is noted from the prominent or swollen breast that resolves without treatment in subsequent weeks. Manual breast manipulation for discharge removal may lead to undesirable effects like local irritation, enhanced enlargement, prolonged tissue hypertropy or even mastitis. A case of such 7-days female neonate is presented here backed with imaging evaluation for confirmation of diagnosis. Typical sonomammographic findings are described. [Cukurova Med J 2015; 40(Suppl 1: 22-24

  9. Maternal and neonatal tetanus

    Science.gov (United States)

    Thwaites, C Louise; Beeching, Nicholas J; Newton, Charles R

    2017-01-01

    Maternal and neonatal tetanus is still a substantial but preventable cause of mortality in many developing countries. Case fatality from these diseases remains high and treatment is limited by scarcity of resources and effective drug treatments. The Maternal and Neonatal Tetanus Elimination Initiative, launched by WHO and its partners, has made substantial progress in eliminating maternal and neonatal tetanus. Sustained emphasis on improvement of vaccination coverage, birth hygiene, and surveillance, with specific approaches in high-risk areas, has meant that the incidence of the disease continues to fall. Despite this progress, an estimated 58 000 neonates and an unknown number of mothers die every year from tetanus. As of June, 2014, 24 countries are still to eliminate the disease. Maintenance of elimination needs ongoing vaccination programmes and improved public health infrastructure. PMID:25149223

  10. Correction of Neonatal Hypovolemia

    Directory of Open Access Journals (Sweden)

    V. V. Moskalev

    2007-01-01

    Full Text Available Objective: to evaluate the efficiency of hydroxyethyl starch solution (6% refortane, Berlin-Chemie versus fresh frozen plasma used to correct neonatal hypovolemia.Materials and methods. In 12 neonatal infants with hypoco-agulation, hypovolemia was corrected with fresh frozen plasma (10 ml/kg body weight. In 13 neonates, it was corrected with 6% refortane infusion in a dose of 10 ml/kg. Doppler echocardiography was used to study central hemodynamic parameters and Doppler study was employed to examine regional blood flow in the anterior cerebral and renal arteries.Results. Infusion of 6% refortane and fresh frozen plasma at a rate of 10 ml/hour during an hour was found to normalize the parameters of central hemodynamics and regional blood flow.Conclusion. Comparative analysis of the findings suggests that 6% refortane is the drug of choice in correcting neonatal hypovolemia. Fresh frozen plasma should be infused in hemostatic disorders. 

  11. Hiperbilirrubinemia neonatal agravada Aggravated neonatal hyperbilirubinemia

    Directory of Open Access Journals (Sweden)

    Ana Campo González

    2010-09-01

    Full Text Available INTRODUCCIÓN. La mayoría de las veces la ictericia en el recién nacido es un hecho fisiológico, causado por una hiperbilirrubinemia de predominio indirecto, secundario a inmadurez hepática e hiperproducción de bilirrubina. El objetivo de este estudio fue determinar el comportamiento de la hiperbilirrubinemia neonatal en el Hospital Docente Ginecoobstétrico de Guanabacoa en los años 2007 a 2009. MÉTODOS. Se realizó un estudio descriptivo y retrospectivo de 173 recién nacidos que ingresaron al Departamento de Neonatología con diagnóstico de hiperbilirrubinemia agravada. RESULTADOS. La incidencia de hiperbilirrubinemia neonatal agravada fue del 3,67 % y predominó en hermanos con antecedentes de ictericia (56,65 %. El tiempo de aparición fue de 48 a 72 h (76,87 % y entre los factores agravantes se hallaron el nacimiento pretérmino y el bajo peso al nacer. La mayoría de los pacientes fueron tratados con luminoterapia (90,17 %. CONCLUSIÓN. La hiperbilirrubinemia neonatal agravada constituye un problema de salud. Los factores agravantes son la prematuridad y el bajo peso al nacer. La luminoterapia es una medida terapéutica eficaz para su tratamiento.INTRODUCTION. Most of times jaundice in newborn is a physiological fact due to hyperbilirubinemia of indirect predominance, secondary to liver immaturity and to bilirubin hyperproduction. The aim of present of present study was to determine the behavior of neonatal hyperbilirubinemia in the Gynecology and Obstetrics Teaching Hospital of Guanabacoa municipality from 2007 to 2009. METHODS. A retrospective and descriptive study was conducted in 173 newborn patients admitted in the Neonatology Department diagnosed with severe hyperbilirubinemia. RESULTS. The incidence of severe neonatal hyperbilirubinemia was of 3,67% with predominance in brothers with a history of jaundice (56,65%. The time of appearance was of 48 to 72 hrs (76,87% and among the aggravating factors were the preterm birth and

  12. Neonatal outcomes and operative vaginal delivery versus cesarean delivery.

    LENUS (Irish Health Repository)

    Contag, Stephen A

    2010-06-01

    We compared outcomes for neonates with forceps-assisted, vacuum-assisted, or cesarean delivery in the second stage of labor. This is a secondary analysis of a randomized trial in laboring, low-risk, nulliparous women at >or=36 weeks\\' gestation. Neonatal outcomes after use of forceps, vacuum, and cesarean were compared among women in the second stage of labor at station +1 or below (thirds scale) for failure of descent or nonreassuring fetal status. Nine hundred ninety women were included in this analysis: 549 (55%) with an indication for delivery of failure of descent and 441 (45%) for a nonreassuring fetal status. Umbilical cord gases were available for 87% of neonates. We found no differences in the base excess (P = 0.35 and 0.78 for failure of descent and nonreassuring fetal status) or frequencies of pH below 7.0 (P = 0.73 and 0.34 for failure of descent and nonreassuring fetal status) among the three delivery methods. Birth outcomes and umbilical cord blood gas values were similar for those neonates with a forceps-assisted, vacuum-assisted, or cesarean delivery in the second stage of labor. The occurrence of significant fetal acidemia was not different among the three delivery methods regardless of the indication.

  13. Neonatal renal vein thrombosis.

    Science.gov (United States)

    Brandão, Leonardo R; Simpson, Ewurabena A; Lau, Keith K

    2011-12-01

    Neonatal renal vein thrombosis (RVT) continues to pose significant challenges for pediatric hematologists and nephrologists. The precise mechanism for the onset and propagation of renal thrombosis within the neonatal population is unclear, but there is suggestion that acquired and/or inherited thrombophilia traits may increase the risk for renal thromboembolic disease during the newborn period. This review summarizes the most recent studies of neonatal RVT, examining its most common features, the prevalence of acquired and inherited prothrombotic risk factors among these patients, and evaluates their short and long term renal and thrombotic outcomes as they may relate to these risk factors. Although there is some consensus regarding the management of neonatal RVT, the most recent antithrombotic therapy guidelines for the management of childhood thrombosis do not provide a risk-based algorithm for the acute management of RVT among newborns with hereditary prothrombotic disorders. Whereas neonatal RVT is not a condition associated with a high mortality rate, it is associated with significant morbidity due to renal impairment. Recent evidence to evaluate the effects of heparin-based anticoagulation and thrombolytic therapy on the long term renal function of these patients has yielded conflicting results. Long term cohort studies and randomized trials may be helpful to clarify the impact of acute versus prolonged antithrombotic therapy for reducing the morbidity that is associated with neonatal RVT.

  14. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma

    Directory of Open Access Journals (Sweden)

    Siu Ying Angel Nip

    2016-01-01

    Full Text Available Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH. Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age. Mortality has been reportedly high without treatment. We report a rare case of a male infant with neonatal hemangiomatosis with diffuse peritoneal involvement, which mimicked a malignant-looking tumor on imaging, and discuss therapeutic options and efficacy. Propranolol is efficacious for IH but generally not useful for other forms of vascular hemangiomas, tumors, and malformations. In our case of neonatal peritoneal hemangiomatosis, propranolol appears to have halted the growth and possibly expedite the involution of the hemangiomatosis without other treatments.

  15. 晚期早产儿与足月新生儿呼吸衰竭发生及预后的影响因素%Risk factors of prognosis of neonatal respiratory failure in late preterm and full-term infants

    Institute of Scientific and Technical Information of China (English)

    朱天闻; 张永红; 陈妍; 夏红萍; 赵冬莹; 杨凌云; 朱建幸

    2013-01-01

    Objective To investigate the risk factors of prognosis of neonatal respiratory failure in late preterm and full-term infants.Methods Sixty-eight neonates with respiratory failure hospitalized in neonatal intensive care unit (NICU) were divided into late preterm infants group (n =34) and full-term infants group (n =34),the general clinical characteristics,perinatal parameters,treatment process of respiratory failure,main disease diagnosis and prognosis evaluation were compared between these two groups.Besides,the clinical parameters and respiratory parameters were compared between favorable prognosis group and unfavorable prognosis group.Results The average birth weight in late preterm infants group was significantly lower than that in full-term infants group (P < 0.01),and the proportion of infants with low body weight in late preterm infants group was significantly higher than that in full-term infants group (P <0.05).However,there was no significant difference in the gender constituent ratio,age at NICU admission and proportion of infants small for gestational age between two groups (P > 0.05).There was no significant difference in the healthy status and other perinatal parameters between late preterm infants group and full-term infants group (P > 0.05).Apnea was only found in late preterm infants group,and NO inhalation treatment and high frequency ventilation were only adopted in full-term infants group,while there was no significant difference in the main disease diagnosis,respiratory treatment modality and prognosis between two groups (P > 0.05).The proportion of infants small for gestational age in favorable prognosis group was significantly lower than that in unfavorable prognosis group (P < 0.05),while the Caesarean section rate in favorable prognosis group was significantly higher than that in unfavorable prognosis group (P < 0.05).Conclusion Relationship between gestational age and body weight of neonates with respiratory failure and way of

  16. Systems failure.

    OpenAIRE

    Macleod, Anna

    1998-01-01

    Systems Failure A solo exhibition of new work by Anna Macleod developed in conversation with curator Liz Burns. The Dock, Carrick on Shannon, Co Leitrim. Ireland. 12th February – 17th April 2010. The works for the exhibition Systems Failure include drawings, prints and small constructions that examine the delicate balance that exists between need and aspects of failure rooted in the relationship between humanity and land use. The work seeks to question the relationship between scient...

  17. Sepsis neonatal por Estreptococos Pyogenes Neonatal Sepsis by Streptococcus pyogenes

    Directory of Open Access Journals (Sweden)

    Gilberto Rodríguez-Herrera

    2009-09-01

    Full Text Available Se presenta el caso de un paciente masculino, recién nacido a término adecuado para la edad gestacional, quien nace por parto vaginal, con el antecedente de fiebre en la madre durante el periodo de postparto inmediato. Los padres consultan a los 2 días de vida pues le notan dificultad respiratoria, hipoactividad y rechazo a la leche materna. El paciente se interna y se aborda como una sepsis. Durante su estancia en el servicio de neonatología del Hospital Nacional de Niños asocia fallo respiratorio que amerita ventilación mecánica asistida por varios días en diferentes ocasiones, derrame pleural exudativo, convulsiones de origen hipóxico isquémico. Con reporte de hemocultivos positivos por Estreptococos pyogenes. El Estreptococos pyogenes o estreptococo β-hemolνtico del grupo A, fue un problema en los comienzos del siglo pasado, siendo frecuente en las infecciones puerperales y del reciιn nacido. En la actualidad es un germen sumamente raro en los procesos de sepsis neonatal.2 La gravedad de la enfermedad causada por este microorganismo en el periodo neonatal varνa desde una onfalitis crónica de bajo grado a una septicemia, una meningitis fulminante y la muerte.1 El presente artículo pretende hacer un resumen del paciente, con su evolución clínica, radiológica y además ejemplificar todas las complicaciones que tuvimos con este germen tan poco frecuente en la actualidad en sepsis neonatal.We present herein the case of a newborn patient of appropriate gestational age weight ( 3700 grams, born by vaginal delivery, from a mother that had had 2 previous pregnancies (2 normal deliveries. During the immediate puerperium she had fever. The parents consulted at the age of 2 days, stating that they had noticed difficult breathing since his birth, hipoactivity and poor appetite. He was admitted to the hospital and underwent several studies searching for the origin and germ causing the sepsis. He developed respiratory failure and needed

  18. 继发性血色病并发糖尿病1例%Secondary hemochromatosis-complicated diabetes mellitus: A report of one case and literature review

    Institute of Scientific and Technical Information of China (English)

    黄迪华; 官莉莉; 董海燕; 朱麒钱; 王宁

    2011-01-01

    A 58-year-old man complained of polyuria, polydipsia, weight loss 1 week before admission. He had anemia and splenomegaly, skin of grey and hepatomegaly. Oral glucose tolerance test showed a diagnosis of diabetes mellitus, insulin release test showed a decreased pancreatic islet function. Serum iron and ferritin were elevated. The pathology of liver tissue showed diffuse distribution of hemosiderin granules with positive Prussian blue staining. Insulin therapy and iron chelation therapy were effective. Diabetes mellitus is present in approximately half of patients at the time of hemochromatosis diagnosis. The excess iron involved in oxidative stress and the formation of lipid peroxides, resulting in pancreatic islet beta cell failure and diabetes.%本文报道1例以糖尿病就诊的继发性血色病(SHC)病例.患者男,58岁,因“多尿、多饮、体重下降1周”人院.既往有贫血、脾大史.查体发现皮肤青灰色、肝大.糖耐量试验确诊糖尿病,胰岛素释放试验提示曲线低平,胰岛功能差.血清铁及铁蛋白升高.肝组织病理提示弥漫分布含铁血黄素颗粒,普鲁士蓝染色阳性.胰岛素治疗及铁螯合剂治疗有效.近一半患者在发现血色病时已发生糖尿病.过量的铁参与氧化应激,形成脂质过氧化物,造成胰岛β细胞衰竭,导致糖尿病.

  19. Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene

    Energy Technology Data Exchange (ETDEWEB)

    Crawford, D.H.G.; Powell, L.W.; Leggett, B.A. [Univ. of Queensland (Australia)] [and others

    1995-08-01

    Hemochromatosis (HC) is a common inherited disorder of iron metabolism for which neither the gene nor biochemical defect have yet been identified. The aim of this study was to look for clinical evidence that the predominant ancestral haplotype in Australian patients is associated with a common mutation in the gene. We compared indices of iron metabolism and storage in three groups of HC patients categorized according to the presence of the ancestral haplotype (i.e., patients with two copies, one copy, and no copies of the ancestral haplotype). We also examined iron indices in two groups of HC heterozygotes (those with the ancestral haplotype and those without) and in age-matched controls. These analyses indicate that (i) HC patients with two copies of the ancestral haplotype show significantly more severe expression of the disorder than those with one copy or those without, (ii) HC heterozygotes have partial clinical expression, which may be influenced by the presence of the ancestral haplotype in females but not in males, and (iii) the high population frequency of the HC gene may be the result of the selective advantage conferred by protecting heterozygotes against iron deficiency. 18 refs., 3 tabs.

  20. Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

    Science.gov (United States)

    Badar, Sadaf; Busti, Fabiana; Ferrarini, Alberto; Xumerle, Luciano; Bozzini, Paolo; Capelli, Paola; Pozzi-Mucelli, Roberto; Campostrini, Natascia; De Matteis, Giovanna; Marin Vargas, Sergio; Giorgetti, Alejandro; Delledonne, Massimo; Olivieri, Oliviero; Girelli, Domenico

    2016-06-01

    Hereditary hemochromatosis, one of the commonest genetic disorder in Caucasians, is mainly associated to homozygosity for the C282Y mutation in the HFE gene, which is highly prevalent (allele frequency up to near 10% in Northern Europe) and easily detectable through a widely available "first level" molecular test. However, in certain geographical regions like the Mediterranean area, up to 30% of patients with a HH phenotype has a negative or non-diagnostic (i.e. simple heterozygosity) test, because of a known heterogeneity involving at least four other genes (HAMP, HJV, TFR2, and SLC40A1). Mutations in such genes are generally rare/private, making the diagnosis of atypical HH essentially a matter of exclusion in clinical practice (from here the term of "non-HFE" HH), unless cumbersome traditional sequencing is applied. We developed a Next Generation Sequencing (NGS)-based test targeting the five HH genes, and applied it to patients with clinically relevant iron overload (IO) and a non-diagnostic first level genetic test. We identified several mutations, some of which were novel (i.e. HFE W163X, HAMP R59X, and TFR2 D555N) and allowed molecular reclassification of "non-HFE" HH clinical diagnosis, particularly in some highly selected IO patients without concurring acquired risk factors. This NGS-based "second level" genetic test may represent a useful tool for molecular diagnosis of HH in patients in whom HH phenotype remains unexplained after the search of common HFE mutations.

  1. Neonatal alloimmune thrombocytopenia

    Directory of Open Access Journals (Sweden)

    Mella MT

    2015-06-01

    Full Text Available Maria Teresa Mella, Keith A Eddleman Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Mount Sinai School of Medicine, New York, NY, USA Abstract: Neonatal alloimmune thrombocytopenia occurs in one in 1,000–1,500 live births and is the most common cause of severe thrombocytopenia and intracranial hemorrhage in term infants. It is the equivalent of red blood cell alloimmunization and is due to transplacental passage of maternal antibodies against paternally derived fetal platelet antigens. A diagnosis of neonatal alloimmune thrombocytopenia should be considered for any neonate with unexplained thrombocytopenia. Once the diagnosis is made, it is known that all subsequent pregnancies are at risk for severe disease. In order to prevent the devastating and potentially life-threatening manifestations of the disease, the goal is to initiate treatment early with serial percutaneous umbilical blood sampling, intravenous immunoglobulin administration, prednisone, and/or fetal platelet transfusions. Timing of delivery is variable with delivery for severe disease recommended at an earlier gestational age. Vaginal delivery can be considered if the fetal platelet count is greater than 50,000–100,000 µL. Thrombocytopenia due to neonatal alloimmune thrombocytopenia usually resolves spontaneously within 1–2 weeks after delivery, but a platelet transfusion may be necessary to prevent a serious hemorrhagic event. In all cases, a multidisciplinary approach to care should be undertaken with delivery at a tertiary care center. Keywords: neonatal thrombocytopenia, fetal therapy, intracranial hemorrhage, intravenous immunoglobulin, alloimmunization

  2. Intraoperative fluid therapy in neonates

    African Journals Online (AJOL)

    aBarts Health NHS Trust, The Royal London Hospital, London, United Kingdom ... Differences from adults and children in physiology and anatomy of neonates inform our ..... this as a reliable monitor for fluid responsiveness in neonates.

  3. The value of neonatal autopsy.

    LENUS (Irish Health Repository)

    Hickey, Leah

    2012-01-01

    Neonatal autopsy rates were in decline internationally at the end of the last century. Our objective was to assess the current value of neonatal autopsy in providing additional information to families and healthcare professionals.

  4. Thoracic Ectopia Cordis in an Ethiopian Neonate

    OpenAIRE

    Tadele, Henok; Chanie, Abeje

    2017-01-01

    Background Ectopia Cordis is defined as complete or partial displacement of the heart outside the thoracic cavity. It is a rare congenital defect with failure of fusion of the sternum with extra thoracic location of the heart. The estimated prevalence of this case is 5.5 to 7.9 per million live births. Case Presentation We had a case of a 16-hour-old male neonate weighing 2.9kg with externally visible, beating heart over the chest wall. Initial treatment included covering the heart with steri...

  5. Neonatal weaning from ventilator: PSV versus SIMV mode

    Directory of Open Access Journals (Sweden)

    Nayeri F

    2009-01-01

    Full Text Available "nBackground: The use of synchronized intermittent mandatory ventilation (SIMV and pressure support ventilation (PSV have been used for older children and adults. The purpose of this study was to compare PSV and SIMV modes in weaning from mechanical ventilation in neonate with respiratory failure. "nMethods: A randomized clinical trial study carried out in NICU ward of Valiasr hospital Imam Khomeini Hospital complex, Tehran, Iran. Thirty neonates enrolled in two groups of 15. At the weaning time they randomly assigned to SIMV or PSV. They compared for tidal volume (VT, peak inspiratory pressure (PIP, incidence of pneumothorax, weaning failure and duration of weaning. For two groups to be homogeneous, maternal disease during pregnancy were also considered. "nResults: In this study, VT, PIP, incidence of pneumothorax and weaning failure did not differ between groups; duration of ventilation of the two methods (hours and duration of hospitalization (days were separately calculated. The only meaningful difference in two groups were due to weaning duration. The neonates weaned by PSV mode experienced shorter weaning time. (6.05 hours. The weaning time in SIMV mode was longer (45 hours (P=0.006. There were no other meaningful differences between the two groups "nConclusions: According to the results of this study there were no advantage using PSV over SIMV except that the weaning time were shorter in PSV. This decrease in weaning time causes less dependence of the neonate to the ventilator and as a result secure them from complications.

  6. Venous thromboembolism at uncommon sites in neonates and children.

    Science.gov (United States)

    Pergantou, Helen; Avgeri, Maria; Komitopoulou, Anna; Xafaki, Panagiota; Kapsimali, Zoey; Mazarakis, Michail; Adamtziki, Eftychia; Platokouki, Helen

    2014-11-01

    We retrospectively analyzed the data of 24 children (whereof 11 neonates), with non-central venous line-related and nonmalignancy-related venous thromboembolism (VTE) at uncommon sites, referred to our Unit from January 1999 to January 2012. Thirty patients who also suffered deep vein thrombosis, but in upper/low extremities, were not included in the analysis. The location of rare site VTE was: portal (n=7), mesenteric (n=2) and left facial vein (n=1), spleen (n=3), lung (n=3), whereas 10 neonates developed renal venous thrombosis. The majority of patients (91.7%) had at least 1 risk factor for thrombosis. Identified thrombophilic factors were: antiphospholipid antibodies (n=2), FV Leiden heterozygosity (n=6), MTHFR C677T homozygosity (n=4), protein S deficiency (n=2), whereas all neonates had age-related low levels of protein C and protein S. All but 6 patients received low-molecular-weight heparin, followed by warfarin in 55% of cases, for 3 to 6 months. Prolonged anticoagulation was applied in selected cases. During a median follow-up period of 6 years, the clinical outcome was: full recovery in 15 patients, evolution to both chronic portal hypertension and esophageal varices in 2 children, and progression to renal failure in 7 of 10 neonates. Neonates are greatly vulnerable to complications after VTE at uncommon sites, particularly renal. Future multicentre long-term studies on neonatal and pediatric VTE at unusual sites are considered worthwhile.

  7. Hiperbilirrubinemia neonatal agravada Aggravated neonatal hyperbilirubinemia

    OpenAIRE

    Ana Campo González; Rosa María Alonso Uría; Rafael Amador Morán; Irka Ballesté López; Rosa Díaz Aguilar; Mercedes Remy Pérez

    2010-01-01

    INTRODUCCIÓN. La mayoría de las veces la ictericia en el recién nacido es un hecho fisiológico, causado por una hiperbilirrubinemia de predominio indirecto, secundario a inmadurez hepática e hiperproducción de bilirrubina. El objetivo de este estudio fue determinar el comportamiento de la hiperbilirrubinemia neonatal en el Hospital Docente Ginecoobstétrico de Guanabacoa en los años 2007 a 2009. MÉTODOS. Se realizó un estudio descriptivo y retrospectivo de 173 recién nacidos que ingresaron al ...

  8. Neonatal brucellosis: A case report.

    Science.gov (United States)

    Alnemri, Abdul Rahman M; Hadid, Adnan; Hussain, Shaik Asfaq; Somily, Ali M; Sobaih, Badr H; Alrabiaah, Abdulkarim; Alanazi, Awad; Shakoor, Zahid; AlSubaie, Sarah; Meriki, Naema; Kambal, Abdelmageed M

    2017-02-28

    Although brucellosis is not uncommon in Saudi Arabia, neonatal brucellosis has been infrequently reported. In this case of neonatal brucellosis, Brucella abortus was isolated by blood culture from both the mother and the neonate. Serology was positive only in the mother.

  9. Rings in the neonate.

    LENUS (Irish Health Repository)

    Hackett, C B

    2011-02-01

    Neonatal lupus erythematosus (NLE) is an uncommon disease of the neonate. It is believed to be caused by the transplacental passage of maternal autoantibodies to the ribonucleoproteins (Ro\\/SSA, La\\/SSB or rarely U RNP) as these are almost invariably present in NLE sera. The most common clinical manifestations include cutaneous lupus lesions and congenital complete heart block. Hepatobiliary and haematologic abnormalities are reported less frequently. We describe a patient with cutaneous NLE to illustrate and raise awareness of the characteristic annular eruption of this condition. We also emphasize the need for thorough investigation for concomitant organ involvement and for maternal education regarding risk in future pregnancies.

  10. Ultrasonography of Neonatal Cholestasis

    Energy Technology Data Exchange (ETDEWEB)

    Cheon, Jung Eun [Seoul National University Hospital, Seoul (Korea, Republic of)

    2012-06-15

    Ultrasonography (US) is as an important tool for differentiation of obstructive and non-obstructive causes of jaundice in infants and children. Beyond two weeks of age, extrahepatic biliary atresia and neonatal hepatitis are the two most common causes of persistent neonatal jaundice: differentiation of extrahepatic biliary atresia, which requires early surgical intervention, is very important. Meticulous analysis should focus on size and configuration of the gallbladder and anatomical changes of the portahepatis. In order to narrow the differential diagnosis, combined approaches using hepatic scintigraphy, MR cholangiography, and, at times, percutaneous liver biopsy are necessary. US is useful for demonstrating choledochal cyst, bile plug syndrome, and spontaneous perforation of the extrahepatic bile duct

  11. HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 µg/L.

    Science.gov (United States)

    Adams, Paul C; McLaren, Christine E; Speechley, Mark; McLaren, Gordon D; Barton, James C; Eckfeldt, John H

    2013-07-01

    Many patients referred for an elevated serum ferritin level iron overload and hemochromatosis. To determine the prevalence of HFE mutations in the hemochromatosis gene for 11 serum ferritin concentration intervals from 200 µg⁄L to 1000 µg⁄L in Caucasian participants in a primary care, population-based study. The Hemochromatosis and Iron Overload Screening study screened 99,711 participants for serum ferritin levels, transferrin saturation and genetic testing for the C282Y and H63D mutations of the HFE gene. This analysis was confined to 17,160 male and 27,465 female Caucasian participants because the HFE C282Y mutation is rare in other races. Post-test likelihood was calculated for prediction of C282Y homozygosity from a ferritin interval. A subgroup analysis was performed in participants with both an elevated serum ferritin level and transferrin saturation. There were 3359 male and 2416 female participants with an elevated serum ferritin level (200 µg⁄L to 1000 µg⁄L for women, 300 µg⁄L to 1000 µg⁄L for men). There were 69 male (2.1%) and 87 female (3.6%) C282Y homozygotes, and the probability of being a homozygote increased as the ferritin level increased. Post-test likelihood values were 0.3% to 16% in men and 0.3% to 30.4% in women. Iron loading HFE mutations are unlikely to be the most common cause of an elevated serum ferritin level in patients with mild hyperferritinemia. Patients should be advised that there are many causes of an elevated serum ferritin level including iron overload.

  12. Micronodular inflammatory pseudotumor of the liver presenting in a patient with hemochromatosis; Presentacion en forma micronodular de seudotumor inflamatorio hepatico en un paciente con hemocromatosis

    Energy Technology Data Exchange (ETDEWEB)

    Sanchez, F.; Ysamat, R.; Canis, M. [H. R. U. Reina Sofia. Cordoba (Spain); Roman, G. [Hospital Infant Margarita. Cabra Cordoba (Spain)

    1999-07-01

    Inflammatory pseudotumor is a benign lesion of unknown etiology that is characterized histologically by a chronic inflammatory infiltrate and fibroblast proliferation. The presenting signs include pain in right upper quadrant, palpable mass or hepatomegaly, fever asthenia and weight loss. Ultrasonography and computed tomography show a solitary mass. The presence of more than one lesion is uncommon and the masses generally measure more than 2 cm. We present a case of diffuse micronodular inflammatory pseudotumor of the liver in a patient with cirrhosis of the liver secondary to hemochromatosis. (Author) 8 refs.

  13. The Hereditary Hemochromatosis Protein, HFE, Inhibits Iron Uptake via Down-regulation of Zip14 in HepG2 Cells*

    OpenAIRE

    Gao, Junwei; Zhao, Ningning; Knutson, Mitchell D.; Enns, Caroline A

    2008-01-01

    Lack of functional hereditary hemochromatosis protein, HFE, causes iron overload predominantly in hepatocytes, the major site of HFE expression in the liver. In this study, we investigated the role of HFE in the regulation of both transferrin-bound iron (TBI) and non-transferrin-bound iron (NTBI) uptake in HepG2 cells, a human hepatoma cell line. Expression of HFE decreased both TBI and NTBI uptake. It also resulted in a decrease in the protein levels of Zip14 with no ...

  14. Hemochromatosis with secondary diabetes mellitus: one case report%原发性血色病继发性糖尿病一例报告

    Institute of Scientific and Technical Information of China (English)

    杨坤; 郭昆全; 鱼强; 姜萍莉

    2007-01-01

    @@ 血色病(hemochromatosis)是一组铁代谢紊乱所致的罕见疾病,主要表现为铁沉积于体内,引起脏器不同程度的组织结构破坏及功能障碍.1957年以来血色病国内报道约100例,经肝活检确诊病例仅14例,出现继发性糖尿病5例.今报告一例原发性血色病继发性糖尿病.

  15. Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21. 3) by cDNA hybridization selection

    Energy Technology Data Exchange (ETDEWEB)

    Goei, V.L.; Capossela, A.; Gruen, J.R.; Parimoo, S.; Chu, T.W. (Yale Univ. School of Medicine, New Haven, CT (United States))

    1994-02-01

    It has previously been shown that cDNA hybridization selection can identify and recover novel genes from large cloned genomic DNA such as cosmids or YACs. In an effort to identify candidate genes for hemochromatosis, this technique was applied to a 320-kb YAC containing the HLA-A gene. A short fragment cDNA library derived from human duodenum was selected with the YAC DNA. Ten novel gene fragments were isolated, characterized, and localized on the physical map of the YAC. 39 refs., 4 figs., 3 tabs.

  16. Total and cause-specific mortality by elevated transferrin saturation and hemochromatosis genotype in individuals with diabetes - two general population studies

    DEFF Research Database (Denmark)

    Ellervik, Christina; Mandrup-Poulsen, Thomas; Tybjærg-Hansen, Anne

    2013-01-01

    ObjectiveMortality is increased in patients with hereditary hemochromatosis, in individuals from the general population with increased transferrin saturation(TS), and also in patients with diabetes type 1 and increased TS from a highly specialised diabetes clinic. Thus, we have recommended targeted...... screening for TS in specialised diabetes clinics. Whether mortality is also increased in individuals ascertained from the general population with diabetes and increased TS is unknown.Research design and methodsIn two Danish population studies(N=84,865), we examined mortality according to baseline TS...

  17. Neonatal Sepsis and Neutrophil Insufficiencies

    Science.gov (United States)

    Melvan, John Nicholas; Bagby, Gregory J.; Welsh, David A.; Nelson, Steve; Zhang, Ping

    2011-01-01

    Sepsis has continuously been a leading cause of neonatal morbidity and mortality despite current advances in chemotherapy and patient intensive care facilities. Neonates are at high risk for developing bacterial infections due to quantitative and qualitative insufficiencies of innate immunity, particularly granulocyte lineage development and response to infection. Although antibiotics remain the mainstay of treatment, adjuvant therapies enhancing immune function have shown promise in treating sepsis in neonates. This chapter reviews current strategies for the clinical management of neonatal sepsis and analyzes mechanisms underlying insufficiencies of neutrophil defense in neonates with emphasis on new directions for adjuvant therapy development. PMID:20521927

  18. Heart failure

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008275 Relationship of calcineure in mRNA level in peripheral blood and cardiac muscle of patients with heart failure.WANG Mengmeng(王萌萌),et al.Dept Cardiol,Shandong Prov Hosp,Shandong Univ,Jinan 250021.Chin Cir J 2008;23(2):113-116.Objective To study the relationship of calcineurin mRNA level between peripheral lymphocytes and cardiac muscles of patients with chronic heart failure.Methods

  19. Heart failure

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008037 Factors associated with efficacy of cardiac resynchronization therapy for patients with congestive heart failure. SHI Haoying(史浩颖), et al. Dept Cardiol, Zhongshan Hosp Fudan Univ, Shanghai 200032. Chin J Cardiol 2007;35(12):1099-1163. Objective The efficacy of cardiac resynchronization therapy (CRT) in patients with congestive heart failure and the potential factors associated with responder or nonresponder were investigated. Methods Fifty

  20. blood in neonates

    African Journals Online (AJOL)

    From the total of 548 male and 659 female neonates 10.2% males and 8% females had TSI-I ... congenital hypothyroidism (CH) in the Ethiopia situation where hospital discharges are within 24 ... counting weeks of pregnancy from the first day.

  1. Neonatal typhoid fever.

    OpenAIRE

    Chin, K C; Simmonds, E J; Tarlow, M J

    1986-01-01

    Three infants of Pakistani immigrant mothers developed typhoid fever in the neonatal period. All three survived, but two became chronic excretors of Salmonella typhi. The risk of an outbreak of typhoid fever in a maternity unit or special care baby unit is emphasized.

  2. Epigenetics in neonatal diseases

    Institute of Scientific and Technical Information of China (English)

    XU Xue-feng; DU Li-zhong

    2010-01-01

    Objective To review the role of epigenetic regulation in neonatal diseases and better understand Barker's "fetal origins of adult disease hypothesis".Data sources The data cited in this review were mainly obtained from the articles published in Medline/PubMed between January 1953 and December 2009.Study selection Articles associated with epigenetics and neonatal diseases were selected.Results There is a wealth of epidemiological evidence that lower birth weight is strongly correlated with an increased risk of adult diseases, such as type 2 diabetes mellitus, hypertension, and cardiovascular disease. This phenomenon of fetal origins of adult disease is strongly associated with fetal insults to epigenetic modifications of genes. A potential role of epigenetic modifications in congenital disorders, transient neonatal diabetes mellitus (TNDM), intrauterine growth retardation (IUGR), and persistent pulmonary hypertension of the newborn (PPHN) have been studied.Conclusions Acknowledgment of the role of these epigenetic modifications in neonatal diseases would be conducive to better understanding the pathogenesis of these diseases, and provide new insight for improved treatment and prevention of later adult diseases.

  3. Fatal neonatal parechovirus encephalitis

    NARCIS (Netherlands)

    A.L. van Zwol (Arjen); M.H. Lequin (Maarten); C.D. Tesselaar (Coranne); A.A. Eijck (Annemiek); G.J.A. Driessen (Gertjan); M. de Hoog (Matthijs); P. Govaert (Paul)

    2009-01-01

    textabstractTwo infants developed encephalitis in the late neonatal period due to human parechovirus type 3 (HPeV-3). This finally resulted in intractable seizures leading to death. Both presented with classical signs and symptoms. HPeV-3 was detected in nasopharyngeal and rectal swabs,

  4. Telemedicine in Neonatal Home Care

    DEFF Research Database (Denmark)

    Holm, Kristina Garne; Brødsgaard, Anne; Zachariassen, Gitte

    2016-01-01

    visits from neonatal nurses. For hospitals covering large regions, home visits may be challenging, time consuming, and expensive and alternative approaches must be explored. OBJECTIVE: To identify parental needs when wanting to provide neonatal home care supported by telemedicine. METHODS: The study used...... participatory design and qualitative methods. Data were collected from observational studies, individual interviews, and focus group interviews. Two neonatal units participated. One unit was experienced in providing neonatal home care with home visits, and the other planned to offer neonatal home care...... with the neonatal unit, and (4) an online knowledge base on preterm infant care, breastfeeding, and nutrition. CONCLUSIONS: Our findings highlight the importance of neonatal home care. NH provides parents with a feeling of being a family, supports their self-efficacy, and gives them a feeling of security when...

  5. Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.

    Science.gov (United States)

    Le Gloan, Laurianne; Hauet, Quentin; David, Albert; Hanna, Nadine; Arfeuille, Chloé; Arnaud, Pauline; Boileau, Catherine; Romefort, Bénédicte; Benbrik, Nadir; Gournay, Véronique; Joram, Nicolas; Baron, Olivier; Isidor, Bertrand

    2016-02-01

    We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited FBN1 mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). FBN1 next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability.

  6. Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study.

    Science.gov (United States)

    Agudo, Antonio; Bonet, Catalina; Sala, Núria; Muñoz, Xavier; Aranda, Núria; Fonseca-Nunes, Ana; Clavel-Chapelon, Françoise; Boutron-Ruault, Marie Christine; Vineis, Paolo; Panico, Salvatore; Palli, Domenico; Tumino, Rosario; Grioni, Sara; Quirós, J Ramón; Molina, Esther; Navarro, Carmen; Barricarte, Aurelio; Chamosa, Saioa; Allen, Naomi E; Khaw, Kay-Tee; Bueno-de-Mesquita, H Bas; Siersema, Peter D; Numans, Mattijs E; Trichopoulou, Antonia; Lagiou, Pagona; Trichopoulos, Dimitrios; Kaaks, Rudof; Canzian, Federico; Boeing, Heiner; Meidtner, Karina; Johansson, Mattias; Sund, Malin; Manjer, Jonas; Overvad, Kim; Tjonneland, Anne; Lund, Eiliv; Weiderpass, Elisabete; Jenab, Mazda; Fedirko, Veronika; Offerhaus, G Johan A; Riboli, Elio; González, Carlos A; Jakszyn, Paula

    2013-06-01

    Hereditary hemochromatosis (HH) is a strong risk factor for hepatocellular cancer, and mutations in the HFE gene associated with HH and iron overload may be related to other tumors, but no studies have been reported for gastric cancer (GC). A nested case-control study was conducted within the European Prospective Investigation into Cancer and Nutrition (EPIC), including 365 incident gastric adenocarcinoma and 1284 controls matched by center, sex, age and date of blood collection. Genotype analysis was performed for two functional polymorphisms (C282Y/rs1800562 and H63D/rs1799945) and seven tagSNPs of the HFE genomic region. Association with all gastric adenocarcinoma, and according to anatomical localization and histological subtype, was assessed by means of the odds ratio (OR) and 95% confidence interval (CI) estimated by unconditional logistic regression adjusted for the matching variables. We observed a significant association for H63D with OR (per rare allele) of 1.32 (CI = 1.03-1.69). In subgroup analyses, the association was stronger for non-cardia anatomical subsite (OR = 1.60, CI = 1.16-2.21) and intestinal histological subtype (OR = 1.82, CI = 1.27-2.62). Among intestinal cases, two tagSNPs (rs1572982 and rs6918586) also showed a significant association that disappeared after adjustment for H63D. No association with tumors located in the cardia or with diffuse subtype was found for any of the nine SNPs analyzed. Our results suggest that H63D variant in HFE gene seems to be associated with GC risk of the non-cardia region and intestinal type, possibly due to its association with iron overload although a role for other mechanisms cannot be entirely ruled out.

  7. Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses

    Directory of Open Access Journals (Sweden)

    Norris Suzanne

    2007-07-01

    Full Text Available Abstract Background Hereditary Hemochromatosis (HH is a genetic disease associated with iron overload, in which individuals homozygous for the mutant C282Y HFE associated allele are at risk for the development of a range of disorders particularly liver disease. Conformational diseases are a class of disorders associated with the expression of misfolded protein. HFE C282Y is a mutant protein that does not fold correctly and consequently is retained in the Endoplasmic Reticulum (ER. In this context, we sought to identify ER stress signals associated with mutant C282Y HFE protein expression, which may have a role in the molecular pathogenesis of HH. Results Vector constructs of Wild type HFE and Mutant C282Y HFE were made and transfected into HEK293 cell lines. We have shown that expression of C282Y HFE protein triggers both an unfolded protein response (UPR, as revealed by the increased GRP78, ATF6 and CHOP expression, and an ER overload response (EOR, as indicated by NF-κB activation. Furthermore, C282Y HFE protein induced apoptotic responses associated with activation of ER stress. Inhibition studies demonstrated that tauroursodeoxycholic acid, an endogenous bile acid, downregulates these events. Finally, we found that the co-existence of both C282Y HFE and Z alpha 1-antitrypsin protein (the protein associated with the liver disease of Z alpha 1-antitrypsin deficiency expression on ER stress responses acted as potential disease modifiers with respect to each other. Conclusion Our novel observations suggest that both the ER overload response (EOR and the unfolded protein response (UPR are activated by mutant C282Y HFE protein.

  8. Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis

    Energy Technology Data Exchange (ETDEWEB)

    Craven, C.M.; Alexander, J.; Eldridge, M.; Kushner, J.P.; Bernstein, S.; Kaplan, J.

    1987-05-01

    Genetically hypotransferrinemic mice accumulate iron in the liver and pancreas. A similar pattern of tissue iron accumulation occurs in humans with hereditary hemochromatosis. In both disorders, there is a decrease plasma concentration of apotransferrin. To test the hypothesis that nontransferrin-bound iron exists and is clear by the parenchymal tissues, the tissue distribution of /sup 59/Fe was studied in animals lacking apotransferrin. Two groups of animals were used: normal rats and mice whose transferrin had been saturated by an intravenous injection of nonradiolabeled iron, and mice with congential hypotransferrinemia. In control animals, injected /sup 59/Fe was found primarily in the bone marrow and spleen. In the transferrin iron-saturated animals, injected /sup 59/Fe accumulated in the liver and pancreas. Gastrointestinally absorbed iron in hypotransferrinemic or transferrin iron-saturated mice was deposited in the liver. This indicates that newly absorbed iron is released from mucosal cells not bound to transferrin. Clearance studies demonstrated that transferrin-bound /sup 59/Fe was removed from the circulation of rats with a half-time of 50 min. In transferrin iron-saturated animals, injected /sup 59/Fe was removed with a half-time of <30 s. Analysis of the distribution of /sup 59/Fe in serum samples by polyacrylamide gel electrophoresis demonstrated the presence of /sup 59/Fe not bound to transferrin. These results demonstrate the existence of and uptake system for non-transferrin-bound iron. These observations support the hypothesis that parenchymal iron overload is consequence of reduced concentrations of apotransferrin.

  9. The effect of the hemochromatosis (HFE genotype on lead load and iron metabolism among lead smelter workers.

    Directory of Open Access Journals (Sweden)

    Guangqin Fan

    Full Text Available BACKGROUND: Both an excess of toxic lead (Pb and an essential iron disorder have been implicated in many diseases and public health problems. Iron metabolism genes, such as the hemochromatosis (HFE gene, have been reported to be modifiers for lead absorption and storage. However, the HFE gene studies among the Asian population with occupationally high lead exposure are lacking. OBJECTIVES: To explore the modifying effects of the HFE genotype (wild-type, H63D variant and C282Y variant on the Pb load and iron metabolism among Asian Pb-workers with high occupational exposure. METHODS: Seven hundred and seventy-one employees from a lead smelter manufacturing company were tested to determine their Pb intoxication parameters, iron metabolic indexes and identify the HFE genotype. Descriptive and multivariate analyses were conducted. RESULTS: Forty-five H63D variant carriers and no C282Y variant carrier were found among the 771 subjects. Compared with subjects with the wild-type genotype, H63D variant carriers had higher blood lead levels, even after controlling for factors such as age, sex, marriage, education, smoking and lead exposure levels. Multivariate analyses also showed that the H63D genotype modifies the associations between the blood lead levels and the body iron burden/transferrin. CONCLUSIONS: No C282Y variant was found in this Asian population. The H63D genotype modified the association between the lead and iron metabolism such that increased blood lead is associated with a higher body iron content or a lower transferrin in the H63D variant. It is indicated that H63D variant carriers may be a potentially highly vulnerable sub-population if they are exposed to high lead levels occupationally.

  10. [Recommendations for neonatal transport].

    Science.gov (United States)

    Moreno Hernando, J; Thió Lluch, M; Salguero García, E; Rite Gracia, S; Fernández Lorenzo, J R; Echaniz Urcelay, I; Botet Mussons, F; Herranz Carrillo, G; Sánchez Luna, M

    2013-08-01

    During pregnancy, it is not always possible to identify maternal or foetal risk factors. Infants requiring specialised medical care are not always born in centres providing intensive care and will need to be transferred to a referral centre where intensive care can be provided. Therefore Neonatal Transport needs to be considered as part of the organisation of perinatal health care. The aim of Neonatal Transport is to transfer a newborn infant requiring intensive care to a centre where specialised resources and experience can be provided for the appropriate assessment and continuing treatment of a sick newborn infant. Intrauterine transfer is the ideal mode of transport when the birth of an infant with risk factors is diagnosed. Unfortunately, not all problems can be detected in advance with enough time to safely transfer a pregnant woman. Around 30- 50% of risk factors will be diagnosed during labour or soon after birth. Therefore, it is important to have the knowledge and resources to resuscitate and stabilise a newborn infant, as well as a specialised neonatal transport system. With this specialised transport it is possible to transfer newly born infants with the same level of care that they would receive if they had been born in a referral hospital, without increasing their risks or affecting the wellbeing of the newborn. The Standards Committee of the Spanish Society of Neonatology reviewed and updated recommendations for intrauterine transport and indications for neonatal transfer. They also reviewed organisational and logistic factors involved with performing neonatal transport. The Committee review included the type of personnel who should be involved; communication between referral and receiving hospitals; documentation; mode of transport; equipment to stabilise newly born infants; management during transfer, and admission at the referral hospital.

  11. Neonatal Duodenal Obstruction: A 15-Year Experience

    Directory of Open Access Journals (Sweden)

    Kamal Nain Rattan

    2016-04-01

    Full Text Available Background: Congenital duodenal obstruction is one of the commonest causes of neonatal intestinal obstruction. We are presenting our 15-year experience by analyzing clinical spectrum and outcome in neonates with duodenal obstruction admitted at our center. Material and Methods: The hospital records of all neonates admitted with duodenal obstruction from June 2000 to June 2015 were reviewed. The patient records were analyzed for antenatal diagnosis, age, sex, clinical presentation, diagnosis, associated anomalies, surgical procedures performed; postoperative morbidity and mortality. We excluded from our study malrotation of gut associated with congenital diaphragmatic hernia and abdominal wall defects. Results: A total of 81 patients were admitted, out of which 56 were males and 25 were females. Polyhydramnios was detected in 24 (30% pregnancies. Average birth weight was 2.1±1.0Kg and average gestational age was 38 (SD±1 weeks with 17 (21% preterm neonates. Presenting features were vomiting in 81(100% which was bilious in 81% and non bilious in 19%, epigastric fullness in 56 (69% and dehydration in 18 (22% and failure to thrive in 16 (19%. Most common cause of obstruction was duodenal atresia in 38 (46.9%, followed by malrotation of gut in 33 (40.7%, and annular pancreas in 4 cases. Depending upon site of location, infra-ampullary obstruction was the most common in 64 (79%, supra-ampullary in 9 (7.4% and ampullary 8 neonates. Both duodenal atresia and malrotation of gut was present in 4 cases. X-ray abdomen was most commonly used investigation to confirm the diagnosis. All cases were managed surgically by open laparotomy. Eleven (13.5% patients died due to sepsis and associated congenital anomalies. Conclusion: Congenital duodenal obstruction most commonly presents in early neonatal period with features of upper GIT obstruction like vomiting and epigastrium fullness as in our series. Early antenatal diagnosis and surgical interventions hold the

  12. NEONATAL COMPLICATIONS OF PREMATURE RUPTURE OF MEMBRANES

    Directory of Open Access Journals (Sweden)

    F. Nili AA. Shams Ansari

    2003-07-01

    Full Text Available Premature rupture of membranes (PROM is one of the most common complications of pregnancy that has a major impact on neonatal outcomes. With respect to racial, nutritional and cultural differences between developed and developing countries, this study was conducted to detect the prevalence of neonatal complications following PROM and the role of the duration of rupture of membranes in producing morbidities and mortalities in these neonates in our hospital. Among 2357 pregnant women, we found 163 (6.91% cases of premature rupture of the fetal membranes in Tehran Vali-e-Asr Hospital during April 2001 to April 2002. Route of delivery was cesarean section in 65.6% of women. Urinary tract infection occured in 1.8%, maternal leukocytosis and fever in 20.2% and 5.5%, chorioamnionitis in 6.1%, fetal tachycardia in 1.2% and olygohydramnios in 4.9%. Gestational age in 138 (86% of neonates was less than 37 completed weeks. Thirty five infants (21.47% had respiratory distress syndrome and 33 (20.245% had clinical sepsis. Pneumonia in 6 (3.7% and skeletal deformity in 7 (4.294% were seen. Rupture of membrane of more than 24 hours duration occurred in 71 (43.6% of the patients. Comparison of morbidities between two groups of neonates and their mothers according to the duration of PROM (less and more than 24 hours showed significant differences in NICU admission, olygohydramnios, maternal fever, leukocytosis and chorioamnionitis rates (p24 hr of PROM with an odds ratio of 2.68 and 2.73, respectively. Positive blood and eye cultures were detected in 16 cases during 72 hours of age. Staphylococcus species, klebsiella, E.coli and streptococcus were the predominant organisms among positive blood cultures. Mortality was seen in 18 (11% of neonates because of respiratory failure, disseminated intravascular coagulation, septic shock, and a single case of congenital toxoplasmosis. In this study, the prevalence of prematurity, sepsis and prolonged rupture of membrane

  13. Bench-to-bedside review: Neonatal sepsis - redox processes in pathogenesis

    Science.gov (United States)

    2012-01-01

    The present review is aimed at elucidating the neonatal 'sepsis redox cycle' - the cascade of inflammatory and redox events involved in the pathogenesis of sepsis in neonates. While adult and neonatal sepses share some common features, there are some substantial differences: higher mortality rates occur in adult sepsis and worse long-term effects are evident in neonatal sepsis survivors. Such epidemiological data may be explained by the lower ability of IL6 and IL8 to activate NF-κB-regulated transcription in neonatal sepsis in comparison to TNF-α, which is involved in the mechanisms of adult sepsis. The activation of NF-κB in neonatal sepsis is further promoted by hydrogen peroxide and results in mitochondrial dysfunction and energy failure as septic neonates experience decreased O2 consumption as well as lower heat production and body temperature in comparison to healthy peers. In neonates, specific organs that are still under development are vulnerable to sepsis-provoked stress, which may lead to brain, lung, and heart injury, as well as vision and hearing impairments. In the light of the processes integrated here, it is clear that therapeutic approaches should also target specific steps in the neonatal 'sepsis redox cycle' in addition to the current therapeutic approach that is mainly focused on pathogen eradication. PMID:22574892

  14. Glucose and Intermediary Metabolism and Astrocyte-Neuron Interactions Following Neonatal Hypoxia-Ischemia in Rat.

    Science.gov (United States)

    Brekke, Eva; Berger, Hester Rijkje; Widerøe, Marius; Sonnewald, Ursula; Morken, Tora Sund

    2017-01-01

    Neonatal hypoxia-ischemia (HI) and the delayed injury cascade that follows involve excitotoxicity, oxidative stress and mitochondrial failure. The susceptibility to excitotoxicity of the neonatal brain may be related to the capacity of astrocytes for glutamate uptake. Furthermore, the neonatal brain is vulnerable to oxidative stress, and the pentose phosphate pathway (PPP) may be of particular importance for limiting this kind of injury. Also, in the neonatal brain, neurons depend upon de novo synthesis of neurotransmitters via pyruvate carboxylase in astrocytes to increase neurotransmitter pools during normal brain development. Several recent publications describing intermediary brain metabolism following neonatal HI have yielded interesting results: (1) Following HI there is a prolonged depression of mitochondrial metabolism in agreement with emerging evidence of mitochondria as vulnerable targets in the delayed injury cascade. (2) Astrocytes, like neurons, are metabolically impaired following HI, and the degree of astrocytic malfunction may be an indicator of the outcome following hypoxic and hypoxic-ischemic brain injury. (3) Glutamate transfer from neurons to astrocytes is not increased following neonatal HI, which may imply that astrocytes fail to upregulate glutamate uptake in response to the massive glutamate release during HI, thus contributing to excitotoxicity. (4) In the neonatal brain, the activity of the PPP is reduced following HI, which may add to the susceptibility of the neonatal brain to oxidative stress. The present review aims to discuss the metabolic temporal alterations observed in the neonatal brain following HI.

  15. A rare occurrence of neonatal nephroblastoma in sub-Saharan Africa: a case report and management in a resource-constrained region

    Directory of Open Access Journals (Sweden)

    Féfé Khuabi Matondo

    2015-03-01

    Full Text Available Neonatal nephroblastoma has been rarely reported in African neonate. A premature newborn (a 5-day-old male was transferred with a history of neonatal abdominal mass. Ultrasonography revealed 75×46 mm, well-defined mass with mixed echogenicity replacing the right kidney. The patient underwent right radical nephrectomy and the tumor was confirmed to be a blastemal predominant Wilms’ tumor by the histopathological examination and has an unfavorable prognosis. The child died secondary to multiple organ failure, three days after surgery. Our case report serves to remind us the need to bear in mind the possibility of the diagnosis of neonatal nephroblastoma in neonate with renal mass.

  16. The clinical picture of neonatal infection with Pantoea species.

    Science.gov (United States)

    Van Rostenberghe, H; Noraida, R; Wan Pauzi, W I; Habsah, H; Zeehaida, M; Rosliza, A R; Fatimah, I; Nik Sharimah, N Y; Maimunah, H

    2006-04-01

    Pantoea infections are uncommon in humans. Most reports have involved adults or children after thorn injuries. There are only a few reports of systemic infections with Pantoea. This is the first report of the clinical picture of systemic Pantoea spp. infection in neonates as observed during an outbreak in a neonatal intensive care unit caused by infected parenteral nutrition solutions. Even though detected early, the infections had a fulminant course, causing septicemic shock and respiratory failure. Pulmonary disease was prominent and presented mainly as pulmonary hemorrhage and adult respiratory distress syndrome. The organism was sensitive to most antibiotics used in neonatal intensive care units, but the clinical response to antibiotic therapy was poor. The fatality rate was very high: 7 out of 8 infected infants succumbed to the infection (87.5%).

  17. School failure.

    Science.gov (United States)

    Dworkin, P H

    1989-04-01

    Numerous factors may contribute to a child's failure to learn. Certain causes of school failure, such as specific learning disabilities, mental retardation, sensory impairment, and chronic illness may be regarded as intrinsic characteristics of the child. Other causes, such as family dysfunction, social problems, and ineffective schooling, are characteristics of the child's environment. Still other influences on school performance, such as temperamental dysfunction, attention deficits, and emotional illness, may be viewed as the consequence of the interaction between the child and his or her environment. The reasons for a child's school failure must not be considered in isolation but rather within the context of social and environmental circumstances. Evaluation must consider the myriad of reasons for a child's school failure and attempt to identify "clusters" of adverse influences on school performance. Detailed information must be sought from the student, parents, and school system through the history and physical examination. Questionnaires are useful in data gathering. Ancillary methods of assessment that may be of value include neurodevelopmental screening and laboratory studies. Further investigations and referrals, particularly psychoeducational evaluation, are of major importance. Traditional roles of the pediatrician in school failure include the treatment of underlying medical conditions, counseling, the coordination of further investigations and referrals, and the facilitation of communication with community services and resources. Participation with other disciplines in the development of a child's educational plan is feasible and useful.

  18. Legal issues in neonatal nursing: considerations for staff nurses and advanced practice nurses.

    Science.gov (United States)

    Enzman Hagedorn, M I; Gardner, S L

    1999-01-01

    A neonatal nurse is a professional with special training, skill, and knowledge in the care of newborns and their families. The neonatal nurse is accountable to the patient, profession, and employer. Failure of the neonatal nurse to meet these obligations can result in liability in the profession, liability in the employment, a civil suit, or a criminal conviction. Regardless of the health care setting, professional nurses, whether at the bedside or in advanced practice, are morally, ethically, and legally accountable for their nursing judgments and actions. Although most nurses assume they will never be named in a lawsuit, and it is true that few are, their professional actions can be the focus of a suit. An overview of the legal implications found within neonatal nursing practice is presented. Two recent legal cases are presented and discussed to illustrate neonatal nursing and advanced practice liability.

  19. A novel technique in airway management of neonates with occipital encephalocele.

    Science.gov (United States)

    Rangaswamy, N; Pramanik, A K

    2014-11-01

    Airway stabilization in neonates with occipital encephalocele (OE) is critical during surgery or if they develop hypoxic-respiratory failure. Endotracheal intubation can be challenging due to difficulty in positioning the head in a patient with large occipital mass. We describe a novel technique for positioning neonates with large OE using a commonly used hospital apparatus which facilitated appropriate positioning of the baby and successful endotracheal intubation with ease and no additional staff.

  20. Neonatal compartment syndrome.

    Science.gov (United States)

    Martin, B; Treharne, L

    2016-09-01

    A term neonate was born with a grossly swollen and discoloured left hand and forearm. He was transferred from the local hospital to the plastic surgical unit, where a diagnosis of compartment syndrome was made and he underwent emergency forearm fasciotomies at six hours of age. Following serial debridements of necrotic tissue, he underwent split-thickness skin grafting of the resultant defects of his forearm, hand and digits. At the clinic follow-up appointment two months after the procedure, he was found to have developed severe flexion contractures despite regular outpatient hand therapy and splintage. He has had further reconstruction with contracture release, use of artificial dermal matrix, and K-wire fixation of the thumb and wrist. Despite this, the long term outcome is likely to be an arm with poor function. The key learning point from this case is that despite prompt transfer, diagnosis and appropriate surgical management, the outcome for neonatal compartment syndrome may still be poor.

  1. Telemedicine in Neonatal Home Care

    DEFF Research Database (Denmark)

    Garne, Kristina; Brødsgaard, Anne; Zachariassen, Gitte;

    2016-01-01

    BACKGROUND: For the majority of preterm infants, the last weeks of hospital admission mainly concerns tube feeding and establishment of breastfeeding. Neonatal home care (NH) was developed to allow infants to remain at home for tube feeding and establishment of breastfeeding with regular home...... visits from neonatal nurses. For hospitals covering large regions, home visits may be challenging, time consuming, and expensive and alternative approaches must be explored. OBJECTIVE: To identify parental needs when wanting to provide neonatal home care supported by telemedicine. METHODS: The study used...... participatory design and qualitative methods. Data were collected from observational studies, individual interviews, and focus group interviews. Two neonatal units participated. One unit was experienced in providing neonatal home care with home visits, and the other planned to offer neonatal home care...

  2. Anorectal malformations in neonates

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2011-01-01

    Full Text Available Background : Anorectal malformations (ARM are associated with congenital anomalies and other risk factors, yielding a poor prognosis, especially in neonatal life. Objectives: This study was performed to identify the congenital anomalies as a factor of poor prognosis (mortality in such patients. Settings: Department of Pediatric surgery, The Children′s Hospital and The Institute of Child Health, Lahore. Design: Prospective observational study, with statistical support. Materials and Methods: The information on the demography, clinical features, investigations, management performed, and outcome was entered in the designed proforma and analysed with the help of statistical software EpiInfo version 3.5.1. Statistical test: Chi-square test was used to determine statistical significance of the results. Results : Of 100 neonates with ARM, 77 were male and 23, female (3.4:1. The mean age at presentation was 3.4 days (range, 12 hrs to 28 days. In 60 patients (60%, the presentation was imperforate anus without a clinically identified fistula. In 28 patients (28%, associated anomalies were present. The common associated anomalies were urogenital (10%, cardiovascular (8%, and gastrointestinal (6%. Down′s syndrome was present in 8 (8% patients. A total of 15 (15% deaths occurred in this study. In patients having associated congenital anomalies, 11 deaths occurred, whereas, 4 deaths were in patients without associated anomalies (P < 0.5. Conclusion : The mortality is higher in neonates with ARM having associated congenital anomalies.

  3. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  4. Neonatal cardiovascular physiology.

    Science.gov (United States)

    Hines, Michael H

    2013-11-01

    The pediatric surgeon deals with a large number and variety of congenital defects in neonates that frequently involve early surgical intervention and care. Because the neonatal cardiac physiology is unique, starting with the transition from fetal circulation and including differences in calcium metabolism and myocardial microscopic structure and function, it serves the pediatric surgeon well to have a sound understanding of these principles and how they directly and indirectly affect their plans and treatments. In addition, many patients will have associated congenital heart disease that can also dramatically influence not only the surgical and anesthetic care but also the timing and planning of procedures. Finally, the pediatric surgeon is often called upon to treat conditions and complications associated with complex congenital heart disease such as feeding difficulties, bowel perforations, and malrotation in heterotaxy syndromes. In this article, we will review several unique aspects of neonatal cardiac physiology along with the basic physiology of the major groups of congenital heart disease to better prepare the training and practicing pediatric surgeon for care of these complex and often fragile patients.

  5. Respiratory failure

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970318 A study on evoked potentials in cor pul-monale patients with chronic respiratory failure.QIAO Hui(乔慧), et al. Beijing Neurosurg Instit,Beijing, 100050. Chin J Geriatr 1997; 16(1): 43-45. Objective: Evoked protential was used to detect thechange of brain function in cor pulmonale patients with

  6. Heart failure

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    2009170 Curcumin attenuates left ventricular dysfunction and remodeling in rabbits with chronic heart failure. TANG Yanhong(唐艳红),et al.Dept Cardiol,Renmin Hosp,Wuhan Univ,Wuhan 430060.Chin J Cardiol,2009;37(3):262-267.

  7. Heart failure

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008411 Expression of S100B during heart failure in rats. JIANG Zhenni(蒋珍妮), et al. Dept Cardiol, 2nd Affili Hosp, Zhejiang Univ, Coll Med Hangzhou 310009. Chin J Emerg Med 2008;17(5):475-478. Objective To evaluate the value of S100B gene on cardiovascular remodeling in rats with abdominal aorta coarctation.

  8. Heart failure

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970284 Effects of enalapril on heart rate variabilityin patients with congestive heart failure. ZHANGYouhua(章友华), et a1. Dept Cardiol, Cardiovasc Instit& Fuwai Hosp, CAMS & PUMC, Beijing, 100037. ChinCir J 1996; 11(2): 729-732.

  9. Failure Modes

    DEFF Research Database (Denmark)

    Jakobsen, K. P.; Burcharth, H. F.; Ibsen, Lars Bo;

    1999-01-01

    The present appendix contains the derivation of ten different limit state equations divided on three different failure modes. Five of the limit state equations can be used independently of the characteristics of the subsoil, whereas the remaining five can be used for either drained or undrained...

  10. Clinical and laboratory characteristics of neonatal hypocalcemia

    National Research Council Canada - National Science Library

    Cho, Won Im; Yu, Hyeoh Won; Chung, Hye Rim; Shin, Choong Ho; Yang, Sei Won; Choi, Chang Won; Kim, Beyong Il

    2015-01-01

    To describe the clinical characteristics of full-term neonates with hypocalcemia and to suggest factors associated with neonatal hypocalcemia The medical records of full-term neonates with hypocalcemia were reviewed...

  11. Presentation of Neonatal Sinovenous Thrombosis

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-09-01

    Full Text Available Signs, risk factors, comorbidities, and radiographic findings in 59 neonates presenting with sinovenous thrombosis are reported from Indiana University School of Medicine, Indianapolis, IN.

  12. Neonatal cystic fibrosis screening test

    Science.gov (United States)

    Cystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test; CF - screening ... Cystic fibrosis is a disease passed down through families. CF causes thick, sticky mucus to build up in ...

  13. Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis

    Institute of Scientific and Technical Information of China (English)

    Luca Valenti; Paolo Maggioni; Alberto Piperno; Raffaela Rametta; Sara Pelucchi; Raffaella Mariani; Paola Dongiovanni; Anna Ludovica Fracanzani; Silvia Fargion

    2012-01-01

    AIM:To investigate whether the patatin-/ike phospho/ipase domain containing-3 gene (PNPLA3) I148M polymorphism is associated with steatosis,fibrosis stage,and cirrhosis in hereditary hemochromatosis (HH).METHODS:We studied 174 consecutive unrelated homozygous for the C282Y HFE mutation of HH (C282Y+/+ HH) patients from Northern Italy,for whom the presence of cirrhosis could be determined based on histological or clinical criteria,without excessive alcohol intake (< 30/20 g/d in males or females) or hepatitis B virus and hepatitis C virus viral hepatitis.Steatosis was evaluated in 123 patients by histology (n =100) or ultrasound (n =23).The PNPLA3 rs738409 single nucleotide polymorphism,encoding for the p.148M protein variant,was genotyped by a Taqman assay (assay on demand,Applied Biosystems).The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis,fibrosis stage,and cirrhosis was evaluated by logistic regression analysis.RESULTS:PNPLA3 genotype was not associated with metabolic parameters,including body mass index (BMI),the presence of diabetes,and lipid levels,but the presence of the p.148M variant at risk was independently associated with steatosis [odds ratio (OR) 1.84 per p.148M allele,95% confidence interval (CI):1.05-3.31;P =0.037],independently of BMI and alanine aminotransaminase (ALT) levels.The p.148M variant was also associated with higher aspartate aminotransferase (P =0.0014) and ALT levels (P =0.017) at diagnosis,independently of BMI and the severity of iron overload.In patients with liver biopsy,the 148M variant was independently associated with the severity (stage) of fibrosis (estimated coefficient 0.56 ± 0.27,P =0.041).In the overall series of patients,the p.148M variant was associated with cirrhosis in lean (P =0.049),but not in overweight patients (P =not significant).At logistic regression analysis,cirrhosis was associated with BMI ≥ 25 (OR 1.82,95% CI:1.02-3.55),ferritin > 1000 ng/mL at diagnosis (OR 19.3,95

  14. Hemochromatosis complicaing mutiple system organ failure: A case report%血色病多系统器官衰竭1例

    Institute of Scientific and Technical Information of China (English)

    赵曙光; 闻勤生; 赵保民; 黄裕新

    2003-01-01

    @@ 1 病例报告男,63岁. 因间断性乏力、纳差30 d,加重伴心慌、气短2 wk于2001-12-11入院. 1995年因胆石症行胆囊摘除术时发现脾肿大,并行脾切除术.查体:T 36.4℃, P 68 次*min-1,R 28次*min-1,BP 12/8 kPa.神志清,精神差,皮肤巩膜轻度黄染,有肝掌无蜘蛛痣,口唇轻度发绀,颈静脉怒张,左下肺叩诊呈实音,触觉语颤减弱,呼吸音减低,双肺底均可闻及细小湿性罗音.

  15. Renal failure

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930150 Epidermal growth factor and its recep-tor in the renal tissue of patients with acute re-nal failure and normal persons.LIU Zhihong(刘志红),et al.Jinling Hosp,Nanjing,210002.Natl Med J China 1992;72(10):593-595.Epidermal growth factor(EGF)and its receptor(EGF-R)were identified by immunohis-tochemical method(4 layer PAP)in the renaltissue specimens obtained from 11 normal kid-neys and 17 cases of acute renal failure(ARF).The quantitative EGF and EGF-R in the tissuewere expressed as positive tubules per mm~2.The amount of EGF and EGF-R in renal tissue

  16. Heart failure

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    920647 Comparative effects of commonvasodilators on experimental cardiac fai-lure. LI Zhijian (李志坚), et al. Dept Cardiol,2nd Hosp, Tianjin Med Coll. Tianjin Med J1992; 20(8): 456-458. A 9×9 latin square design was employed forcomparing the effects of (1) placebo, (2) nitr-oprusside, (3) phentolamine, (4) isosorbide dini-trate. (5) captopril, (6) captopril-isosorbide

  17. Heart failure

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    2005186 The diagnostic application of bedside measurement of plasma brain natriuretic in patients with heart failure. SHAO Le-wen (邵乐文) , Advanced Ward Dept, 1st Hosp, Med Sch, Zhejiang Univ, Hangzhou 310003. Chin J Intern Med, 2005;44(2): 99-101. Objective: To investigate differential diagnosis value of ultra-rapid bedside measurement of brain na-triuretic peptide (BNP) in patients with dyspnea.

  18. Heart failure

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    2010316 Tissue doppler imaging observation on effect of long-term use of gingko biloba tabtet on left ventricular function in patients with chronic heart failure. ZHANG Hui(张辉),et al. Dept Cardiovasc Med, 2nd Hosp, Hebei Med Univ,Shijiazhuang 050000. Chin J Integr Tradit & West Med 2010;30(5):478-481. Objective To quantitatively observe the effect of long-term

  19. Renal failure

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008463 Protective effect of recombination rat augmenter of liver regeneration on kidney in acute renal failure rats. TANG Xiaopeng(唐晓鹏), et al. Dept Nephrol, 2nd Affili Hosp Chongqing Med Univ, Chongqing 400010.Chin J Nephrol 2008;24(6):417-421. Objective To investigate the protective effects of recombination rat augmenter of liver regeneration (rrALR) on tubular cell injury and renal dysfunction

  20. Neonatal haemostasis and the management of neonatal thrombosis.

    Science.gov (United States)

    Will, Andrew

    2015-05-01

    Two detailed reviews of the management of neonatal thrombosis were published in 2012; one was an up-dated version of guidance first issued in 2004 and the other was a comprehensive review. Both of these publications gave very similar advice regarding the practical aspects of the indications, dosage and management of antithrombotic therapy. The authors stated that the evidence supporting most of their recommendations for anti-thrombotic therapy in neonates remained weak and so the therapy for a neonate with a thrombosis has to be based on an individualized assessment of estimated risk versus potential benefit. The aim of this present review is to give the treating physician an outline of the unique physiology of neonatal coagulation and how this affects the monitoring, dosing and even the choice of therapeutic strategy for the management of thrombosis in the neonate.

  1. Clinical use of fresh-frozen plasma and cryoprecipitate in neonatal intensive care unit.

    Science.gov (United States)

    Motta, Mario; Del Vecchio, Antonello; Radicioni, Maurizio

    2011-10-01

    Evidence-based indications for the use of plasma products in neonatal medicine are limited to few conditions. In the setting of inherited disorders of hemostasis, fresh frozen plasma (FFP) and cryoprecipitate should be used as replacement therapy only if the specific factor concentrate is not available. FFP is indicated to treat disseminated intravascular coagulation (DIC), liver failure, vitamin K-dependent bleeding and to reconstitute whole blood for exchange transfusion. Despite the lack of evidence, the use of cryoprecipitate to treat neonates with acquired hypofibrinogenemia during DIC or liver failure is now considered standard therapy.

  2. OXYTOCIN INDUCED NEONATAL HYPERBILIRUBINEMIA

    Directory of Open Access Journals (Sweden)

    Smita S.

    2015-05-01

    Full Text Available INTRODUCTION: Hyperbilirubinemia is one of the most common causes of health problems, observed in 60% of term and 80% of preterm infants in the first week of life . Hyperbilirubinemia leads to neurotoxicity in severe condition. Some studies suggests that liberal use of oxytocin for inducing labour is one of the factor which lead to neonatal hyperbilirubinemia. OBJECTIVE: To compare the effect of oxytocin and neonatal bilirubin levels with spontaneous vaginal delivery . MATERIALS AND METHOD S : 100 full term parturients were selected for this study. The subjects were divided into two groups. 50 healthy babies of women who had oxytocin induced labour and 50 healthy babies of women with normal vaginal delivery following spontaneous onset of labour formed the control group. Neon atal serum bilirubin was measured on day 1, 3 and 5 after delivery. Bilirubin was measured by spectrophotometry. Data was analysed in ms excel sheet using spss 19.0v. Statistical analysis was done by using unpaired‘t’ test. RESULTS: There was significant i ncrease in bilirubin level in oxytocin induced group compared to control group on day 1 and 3. There was insignificant increase in bilirubin level in oxytocin induced group on day 5. However the level of serum bilirubin is within normal limits as bilirubin level normally rises on till 4 th day and decreases thereafter. CONCLUSION: Neonatal hyperbilirubinemia may be due to oxytocin administration by continues IV infusion which results in erythrocyte swell and rupture. Increase in bilirubin level in oxytocin i nduced group is within physiological limits

  3. The conundrum of neonatal coagulopathy.

    Science.gov (United States)

    Revel-Vilk, Shoshana

    2012-01-01

    The maturation and postnatal development of the human coagulation system was first studied and described more than 20 years ago. These older studies, supported by more recent data, confirm the significant and important differences in the physiology of coagulation and fibrinolysis in neonates and young children compared with older children and adults. Subsequently, significant differences were also described in the physiology of primary hemostasis and in global in vitro tests for hemostasis. These differences, which mostly reflect the immaturity of the neonatal hemostasis system, are functionally balanced. Healthy neonates show no signs of easy bruising or other bleeding diathesis and no increased tendency to thrombosis for any given stimulus compared with adults. Systemic diseases may affect hemostasis, predisposing ill neonates to increased hemorrhagic or thrombotic complications. The immaturity of the hemostasis system in preterm and very-low-birth-weight neonates may contribute to a higher risk for intraventricular hemorrhage. Therapies targeting the hemostasis system can be effective for preventing and treating these events. The concept of "neonatal coagulopathy" has an important impact on both the diagnosis and management of hemorrhagic or thrombotic events in neonates. For diagnosis of hemostasis disorders, diagnostic laboratories processing pediatric samples should use age-, analyzer-, and reagent-appropriate reference ranges. Age-specific guidelines should be followed for the management of neonates with hemostatic disorders.

  4. Bacterial sepsis in the neonate.

    Science.gov (United States)

    Rubarth, Lori Baas; Christensen, Carla M; Riley, Cheryl

    2017-09-21

    Neonatal bacterial infections leading to sepsis occur frequently in the first few days or weeks of life. NPs must be able to recognize the early signs of sepsis and understand the need for rapid evaluation and treatment. This article discusses antibiotic treatments for various types and locations of bacterial infections and sepsis in the neonate.

  5. Neonatal Candida arthritis

    Directory of Open Access Journals (Sweden)

    Saurabh Sharma

    2014-01-01

    Full Text Available Fungal arthritis is an uncommon yet serious disorder in the newborn. Delay in diagnosis and management can lead to significant morbidity. We report our experience with management of two such cases. Two preterm neonates with multifocal arthritis caused by Candida were studied. Diagnosis was made by clinical examination, laboratory investigations, radiological investigations and culture. Both were treated by aspiration, arthrotomy and antifungal therapy. One patient recovered fully from the infection while the other had growth disturbances resulting in limb length inequality at recent followup. Prompt and expeditious evacuation of pus from joints and antifungal therapy is imperative for treatment. Associated osteomyelitis leads to further difficulty in treatment.

  6. Hemolysis in Preterm Neonates.

    Science.gov (United States)

    Christensen, Robert D; Yaish, Hassan M

    2016-06-01

    Hemolysis can be an important cause of hyperbilirubinemia in premature and term neonates. It can result from genetic abnormalities intrinsic to or factors exogenous to normal to red blood cells (RBCs). Hemolysis can lead to a relatively rapid increase in total serum/plasma bilirubin, hyperbilirubinemia that is somewhat slow to fall with phototherapy, or hyperbilirubinemia that is likely to rebound after phototherapy. Laboratory methods for diagnosing hemolysis are more difficult to apply, or less conclusive, in preterm infants. Transfusion of donor RBCs can present a bilirubin load that must be metabolized. Genetic causes can be identified by next-generation sequencing panels.

  7. Interpretation of neonatal chest radiography

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Hye Kyung [Dept. of Radiology, Kangwon National University Hospital, Chuncheon (Korea, Republic of)

    2016-05-15

    Plain radiographs for infants in the neonatal intensive care unit are obtained using the portable X-ray equipment in order to evaluate the neonatal lungs and also to check the position of the tubes and catheters used for monitoring critically-ill neonates. Neonatal respiratory distress is caused by a variety of medical or surgical disease conditions. Clinical information about the gestational week, respiratory symptoms, and any events during delivery is essential for interpretation of the neonatal chest radiographs. Awareness of common chest abnormality in the prematurely born or term babies is also very important for chest evaluation in the newborn. Furthermore, knowledge about complications such as air leaks and bronchopulmonary dysplasia following treatment are required to accurately inform the clinicians. The purpose of this article was to briefly review radiographic findings of chest diseases in newborns that are relatively common in daily practice.

  8. Heart failure - tests

    Science.gov (United States)

    CHF - tests; Congestive heart failure - tests; Cardiomyopathy - tests; HF - tests ... the best test to: Identify which type of heart failure (systolic versus diastolic, valvular) Monitor your heart failure ...

  9. Heart failure - home monitoring

    Science.gov (United States)

    ... failure - discharge Heart failure - fluids and diuretics Heart failure - what to ask ... Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, ...

  10. Phathological diagnosis of hereditary hemochromatosis (report of 2 cases)%遗传性血色病的病理诊断(附2例分析)

    Institute of Scientific and Technical Information of China (English)

    陆朝辉; 施建英; 邵彩儿; 吴晓东

    2000-01-01

    @@ 遗传性血色病(Hereditary hemochromatosis,HHC)又称原发性血色病、特发性血色病,是罕见的铁代谢障碍性疾病.国内报道多为临床结合实验室检查而确立诊断,而肝活检诊断作为公认的血色病诊断的金标准却应用较少[1].我院所发现的2例遗传性血色病均通过肝活检获得确诊.现予报告,并结合文献复习进行讨论.

  11. Neonatal gastrointestinal imaging

    Energy Technology Data Exchange (ETDEWEB)

    Rao, Padma [Department of Radiology, Royal Children' s Hospital and University of Melbourne, Flemington Road, Parkville, Melbourne, Vic. 3052 (Australia)]. E-mail: padma.rao@rch.org.au

    2006-11-15

    Radiological imaging is an important part of the evaluation and management of neonates with suspected anomalies of the gastrointestinal tract. Clinical presentation is often non-specific, commonly with abdominal distension and vomiting for which the underlying cause may or may not be clinically apparent. In a proportion of patients, the clinical assessment alone may suffice in providing the diagnosis and no further imaging is necessary. The reader must have an understanding of the normal radiographic appearances of the gastrointestinal tract in neonates and appreciate normal variants and differences to adults. In certain cases, the abdominal radiograph alone is diagnostic. In others, sonography and contrast studies are useful adjunct investigations and the indications for CT and MRI are few, but specific. Appropriate radiological investigation will help to establish the diagnosis and guide surgical intervention whilst also avoiding unnecessary radiation. Some of the conditions require transfer to specialist paediatric institutions for care. Thus, in some circumstances it is appropriate for imaging to be delayed and performed at the specialist centre with early referral often essential for the continued well being of the child.

  12. Neonatal status of twins

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    Božinović Dragica

    2012-01-01

    Full Text Available Multiple pregnancy is a pregnancy where more than one fetus develops simultaneously in the womb, as a result of the ovulation and fertilization of more than one egg. It is relatively rare in humans and represents the rest of the phylogenetic stages. The most common are twins and they indicate the development of two fetuses in the womb. The frequency of twin pregnancies is about 1%. Multiple pregnancies belong to a group of high-risk pregnancies because of the many complications that occur during the pregnancy: higher number of premature deliveries, bleeding, early neonatal complications and higher perinatal morbidity and mortality. Such pregnancies and infants require greater supervision and monitoring. The aim of this study was to determine the percentage of baby twins born at the maternity ward of the General Hospital in Prokuplje and their morbidity and mortality. Data on the total number of deliveries, number of twins, parity and maternal age, gestational age, body weight of twins, method of delivery, Apgar score and perinatal mortality were collected and statistically analyzed by means of retrospective analysis of operative birth and neonatal protocol for 6 years (2005 of 2010. Out of 4527 mothers who gave birth 43 were pairs of twins, or 0.95% of women gave birth to twins. These babies are more likely born by Caesarean section, but delivered with slightly lower birth weight.

  13. Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients

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    Yunus Kasım Terzi

    2016-12-01

    Full Text Available Objective: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE p.H63D and p.C282Y mutations on transfusion-related cardiac and liver iron overload in sickle cell disease patients who carry homozygous hemoglobin S mutation has been investigated. Materials and Methods: This is a prospective single-center crosssectional study in patients with homozygous hemoglobin S mutation between the years 2008 and 2013. The patients were divided into two groups. The first group (group A, n=31 was receiving chelation therapy and the second group (group B, n=13 was not. Direct and indirect iron loads were analyzed by magnetic resonance imaging and biochemically, respectively. HFE gene mutations were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analyses were performed by independent samples t-test. Results: p.H63D mutation was detected in 10 (32.3% patients in group A and in only 1 patient (7.7% in group B. When the 2 groups were compared for iron overload, iron deposition in the liver was significantly higher in group B (p=0.046. In addition, in group A, iron deposition was significantly higher in HFE mutation carriers compared to patients without the mutation (p=0.05. Conclusion: Results of this study showed that HFE gene mutations are important in iron deposition in the liver in patients with sickle cell disease.

  14. Iron, copper, zinc and bromine mapping in cirrhotic liver slices from patients with hemochromatosis studied by microscopic synchrotron radiation X-ray fluorescence analysis in continuous scanning mode

    Energy Technology Data Exchange (ETDEWEB)

    Osterode, W. [Medizinische Universitaet Wien, Univ. Klinik fuer Innere Medizin IV, Klinische Abteilung fuer Arbeitsmedizin, Waehringer Guertel 18-20, A-1090 Wien (Austria)], E-mail: wolf.osterode@meduniwien.ac.at; Falkenberg, G. [Hamburger Synchrotronstrahlungslabor HASYLAB, Deutsches Elektronen-Synchrotron DESY (Germany); Hoeftberger, R. [Medizinische Universitaet Wien, Klinisches Institut fuer Neurologie (Austria); Wrba, F. [Medizinische Universitaet Wien, Klinisches Institut fuer Klinische Pathologie (Austria)

    2007-07-15

    Iron (Fe) and copper (Cu) are essential metals in physiological cell metabolism. While Fe is easy to determine biochemically in histological slices, Cu and zinc (Zn) distribution is frequently critical in confirming the presence of an overload in disturbed Fe/Cu metabolism. To analyze Fe, Cu and Zn in a near histological resolution, energy dispersive microscopic synchrotron radiation X-ray fluorescence was applied. In normal liver tissue, after fixation and imbedding in paraffin, mean Fe, Cu and Zn concentrations were 152 {+-} 54, 20.1 {+-} 4.3 and 88.919.5 {mu}g/g sample weight, respectively. No substantial, characteristic differences in their distribution were found in the two-dimensional scans. In slices from patients with hemochromatosis mean Fe, Cu and Zn concentrations were 1102 {+-} 539, 35.9 {+-} 14.6 and 27.2 {+-} 6.7 {mu}g/g sample weight, respectively. Additionally, a significant decrease in phosphorus and sulphur concentrations existed. An increased Cu around cirrhotic regenerations nodules is mostly associated with a lymphocytic infiltration in this region. Analyzing concentrations of Fe in different regions of the samples show a clear negative dependency between Fe and Cu, Cu and Zn, but a positive one between Fe and Zn. Conclusion: With a focal beam size of 15 {mu}m in diameter a resolution of the elemental distribution was achieved which is widely comparable with stained histological slices (20x light microscope). The analysis of simultaneous determined elements reveals metabolic differences between Fe, Cu and Zn in liver tissue from patients with hemochromatosis.

  15. Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

    Directory of Open Access Journals (Sweden)

    P.L. Bittencourt

    2002-03-01

    Full Text Available The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72 years with HH. Eight patients (53% were homozygous and one (7% was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2 or homozygous (N = 1 for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil.

  16. Iron, copper, zinc and bromine mapping in cirrhotic liver slices from patients with hemochromatosis studied by microscopic synchrotron radiation X-ray fluorescence analysis in continuous scanning mode

    Science.gov (United States)

    Osterode, W.; Falkenberg, G.; Höftberger, R.; Wrba, F.

    2007-07-01

    Iron (Fe) and copper (Cu) are essential metals in physiological cell metabolism. While Fe is easy to determine biochemically in histological slices, Cu and zinc (Zn) distribution is frequently critical in confirming the presence of an overload in disturbed Fe/Cu metabolism. To analyze Fe, Cu and Zn in a near histological resolution, energy dispersive microscopic synchrotron radiation X-ray fluorescence was applied. In normal liver tissue, after fixation and imbedding in paraffin, mean Fe, Cu and Zn concentrations were 152 ± 54, 20.1 ± 4.3 and 88.919.5 μg/g sample weight, respectively. No substantial, characteristic differences in their distribution were found in the two-dimensional scans. In slices from patients with hemochromatosis mean Fe, Cu and Zn concentrations were 1102 ± 539, 35.9 ± 14.6 and 27.2 ± 6.7 μg/g sample weight, respectively. Additionally, a significant decrease in phosphorus and sulphur concentrations existed. An increased Cu around cirrhotic regenerations nodules is mostly associated with a lymphocytic infiltration in this region. Analyzing concentrations of Fe in different regions of the samples show a clear negative dependency between Fe and Cu, Cu and Zn, but a positive one between Fe and Zn. Conclusion: With a focal beam size of 15 μm in diameter a resolution of the elemental distribution was achieved which is widely comparable with stained histological slices (20× light microscope). The analysis of simultaneous determined elements reveals metabolic differences between Fe, Cu and Zn in liver tissue from patients with hemochromatosis.

  17. Could Neonatal Hypernatremia Dehydration Influence Hearing Status?

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    Hassan Boskabadi

    2014-01-01

    Full Text Available Introduction: Neonatal hypernatremia dehydration (NHD is a dangerous condition in neonates, which is accompanied by acute complications (renal failure, cerebral edema, and cerebral hemorrhage and chronic complications (developmental delay. Children begin learning language from birth, and hearing impairment interferes with this process. We assessed the hearing status of infants with hypernatremia dehydration.   Materials and Methods: In a case-control study in 110 infants presenting at the Ghaem Hospital (Mashhad, Iran between 2007 and 2011, we examined the incidence of hearing impairment in infants suffering from hypernatremia dehydration (serum sodium >150 mEq/L in comparison with infants with normal sodium level (serum sodium ≤150 mEq/L.   Results: Three of 110 cases examined in the study group showed a transient hearing impairment. A mean serum sodium level of 173mg/dl was reported among hearing-impaired infants.   Conclusion:  Transient hearing impairment was higher in infants with hypernatremia; although this difference was not significant (P>0.05. Hearing impairment was observed in cases of severe hypernatremia.  

  18. 综合护理在持续气道正压通气 CPAP 在新生儿呼吸衰竭中的临床应用比较%Clinical application of comprehensive nursing in continuous positive airway pressure (CPAP) in neonatal respiratory failure

    Institute of Scientific and Technical Information of China (English)

    江玉凤

    2015-01-01

    目的:分析综合护理对实施持续气道正压通气治疗的呼吸衰竭新生儿的作用效果。方法选择本院收治的呼吸衰竭新生儿58例为研究对象,随机分为2组,均实施持续气道正压通气治疗。实验组采取综合护理措施,分析其治疗护理前后血气相关指标 p(O2)、p(CO2)、pH 的变化,比较2组患儿护理满意度、住院时间、住院费用、疾病认知度。结果与治疗前相比较,实验组 p(O2)经 CPAP 治疗后12 h、24 h 明显升高,p(CO2)明显降低,pH 升高,差异有统计学意义(P <0.05);对照组p(O2)、p(CO2)、pH 较治疗前未见明显变化,差异无统计学意义(P >0.05);经过 CPAP 治疗后,与对照组比较,实验组 p(O2)升高,p(CO2)降低,pH 升高,差异有统计学意义 P <0.05);治疗后12 h 与24 h 相比较,实验组 p(O2)、p(CO2)、pH 无明显变化,差异无统计学意义(P >0.05);对护理人员的满意度进行评价,实验组总满意度100%,对照组总满意度仅为71.43%,2组比较差异有统计学意义(P <0.05);实验组患者的住院时间较对照组缩短,住院费用降低,2组间比较差异有统计学意义(P <0.05);与对照组比较,实验组患者对疾病认知度的评分较高,组间比较差异有统计学意义(P <0.05)。结论对出现呼吸衰竭的新生儿采取持续气道正压通气治疗,并采取综合护理措施,能够及时的纠正低氧血症及高碳酸血症,缓解呼吸衰竭,患者的护理满意度明显提高。%ABSTRACT:Objective To analyze effect of comprehensive nursing in continuous positive airway pressure (CPAP)treatment of respiratory failure in neonates.Methods A total of 58 new-borns with respiratory failure were randomly divided into two groups.They were both implement-ed continuous positive airway pressure (CPAP)treatment,the treatment

  19. EVALUATION OF NEONATAL CARDIAC MURMURS

    Directory of Open Access Journals (Sweden)

    Somaiah

    2014-09-01

    Full Text Available Cardiovascular malformations are the most common cause of congenital malformations, the diagnosis of which requires a close observation in the neonatal period. Early recognition of CHD is important in the neonatal period, as many of them may be fatal if undiagnosed and may require immediate intervention. The objectives of this study are to study the epidemiology of neonatal cardiac murmurs, to identify clinical characteristics which differentiate pathological murmur from functional murmurs and to assess the reliability of clinical evaluation in diagnosing CHD. Method of study included all neonates admitted to the NICU, postnatal ward, attending pediatric OPD or neonatal follow up clinic and were detected to have cardiac murmurs. It was a cross sectional study over a period of 16months. A clinical diagnosis was made based on history and clinical examination. Then Chest X-ray and ECG, Echocardiography was done in all neonates for confirmation of the diagnosis. These neonates were again examined daily till they were in hospital and during the follow-up visit at 6 weeks. The results of 70 neonates in this study conducted over a period of 24 months included the incidence of cardiac murmurs among intramural neonates which was 13.5 for 1000 live births. Most frequent symptom was fast breathing in 10(14.3% cases. VSD was the most common diagnosis clinically in 23 (33% babies. The most frequent Echo diagnosis was acyanotic complex congenital heart disease in 25(36% cases followed by 12(17% cases each of VSD and ASD respectively. Overall in our study 77.1% (54cases of the murmurs were diagnosed correctly and confirmed by Echocardiography The study concluded that it is possible to make clinical diagnosis in many cases of congenital heart diseases, the functional murmurs could be differentiated from those arising from structural heart disease and evaluation of the infants based only on murmurs, few congenital heart diseases can be missed.

  20. Oxidative stress in the neonate.

    Science.gov (United States)

    Robles, R; Palomino, N; Robles, A

    2001-11-01

    The aim of this study is to determine the oxidative state of term and preterm neonates at the moment of birth and during the first days of life, and the influence of exposure to oxygen on the premature neonates.A total of 20 neonates were selected. Group A: 10 healthy full-term neonates, and Group B: 10 preterm neonates with no other pathology associated, requiring oxygen therapy. Venous samples were taken in cord at 3 and 72 h in Group A, and in cord at 3, 24 and 72 h and 7 days in Group B.Hydroperoxides, Q10 coenzyme (Co Q10) and alpha-tocopherol were measured within the erythrocyte membrane. Levels of hydroperoxides present in erythrocyte membrane were higher than normal both in Group A and in Group B at birth. This increase was greater in the group of premature neonates. Levels of alpha-tocopherol at birth increase significantly at 72 h in term neonates. Among the premature newborns, alpha-tocopherol levels are two to three times lower at birth and do not rise to higher levels as in the term neonate group. Fall in levels of Co Q10 in erythrocyte membranes is observed, and perhaps is due to the role of Co Q10 in maintaining the pool of reduced tocopherol. At birth, the neonate presents an increase of markers of oxidative stress and a decrease of their antioxidant defenses. This difference is greater as gestational age decreases. The application of oxygen therapy resulted in these levels which remain low throughout the study period.

  1. The Relationship between Neonatal Jaundice and Maternal and Neonatal Factors

    Directory of Open Access Journals (Sweden)

    Ehsan Garosi

    2016-03-01

    Conclusion: Since factors such as mode of delivery, oxytocin induction, and neonate's gender could contribute to jaundice, continuous assessment of newborns after birth could facilitate early diagnosis, promote disease management, and reduce the subsequent complications.

  2. Neonatal sensitization to latex.

    Science.gov (United States)

    Worth, J

    2000-05-01

    Babies born in delivery rooms of hospitals are exposed to latex through skin and mucous membrane contact with prepowdered latex gloves worn by midwives and doctors, and through the inhalation of latex-bound starch powder in the air of the delivery room. This paper examines the hypothesis that they are at risk for latex sensitization, and that part of the sharp increase of childhood asthma, eczema and anaphylaxis in the past 30-40 years may be linked. These possibilities seem hitherto unsuspected. In over 700 papers on latex allergy no mention of neonatal exposure to latex has been found. Even obstetric papers discussing the risks for an atopic mother (atopy - a tendency to develop allergies) do not seem to anticipate any risk for the baby, who might also be atopic. Latex allergy is primarily regarded as an occupational hazard. This paper suggests that it is a hazard for every baby handled by latex gloves at birth. Copyright 2000 Harcourt Publishers Ltd.

  3. Juvenile Myelomonocytic Leukemia in a Premature Neonate Mimicking Neonatal Sepsis

    Directory of Open Access Journals (Sweden)

    Ming-Luen Lee

    2016-04-01

    Full Text Available Juvenile myelomonocytic leukemia (JMML is a rare hematologic malignancy in children. Its presentations include anemia, thrombocytopenia, monocytosis, skin rash, marked hepatomegaly, and/or splenomegaly. Fever and respiratory involvement are common. Here, we report a case of a premature neonate with initial symptoms of respiratory distress. She gradually developed clinical manifestations of JMML that mimicked neonatal sepsis. Three weeks after birth, JMML was diagnosed. This is the first reported case of JMML presenting in a premature infant in Taiwan.

  4. Neonatal lupus syndromes.

    Science.gov (United States)

    Buyon, J P; Rupel, A; Clancy, R M

    2004-01-01

    The neonatal lupus syndromes (NLS), while quite rare, carry significant mortality and morbidity in cases of cardiac manifestations. Although anti-SSA/Ro-SSB/La antibodies are detected in > 85% of mothers whose fetuses are identified with congenital heart block (CHB) in a structurally normal heart, when clinicians applied this testing to their pregnant patients, the risk for a woman with the candidate antibodies to have a child with CHB was at or below 1 in 50. While the precise pathogenic mechanism of antibody-mediated injury remains unknown, it is clear that the antibodies alone are insufficient to cause disease and fetal factors are likely contributory. In vivo and in vitro evidence supports a pathologic cascade involving apoptosis of cardiocytes, surface translocation of Ro and La antigens, binding of maternal autoantibodies, secretion of profibrosing factors (e.g., TGFbeta) from the scavenging macrophages and modulation of cardiac fibroblasts to a myofibroflast scarring phenotype. The spectrum of cardiac abnormalities continues to expand, with varying degrees of block identified in utero and reports of late onset cardiomyopathy (some of which display endocardial fibroelastosis). Moreover, there is now clear documentation that incomplete blocks (including those improving in utero with dexamethasone) can progress postnatally, despite the clearance of the maternal antibodies from the neonatal circulation. Better echocardiographic measurements which identify first degree block in utero may be the optimal means of approaching pregnant women at risk. Prophylactic therapies, including treatment with intravenous immunoglobulin, await larger trials. In order to achieve advances at both the bench and bedside, national research registries established in the US and Canada are critical.

  5. Pulmonary Changes in Preterm Neonates with Hyaline Membrane Disease (a Clinicomorphological Study

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    A. M. Golubev

    2009-01-01

    Full Text Available Objective: to reveal lung morphological changes in preterm neonatal infants with hyaline membrane disease (HMD in the use of exogenous surfactants and artificial ventilation. Materials and methods. Case histories and autopsy protocols were analyzed in 90 preterm neonates who had died from severe respiratory failure. All the neonates were divided into 4 groups: 1 20 (22.2% infants who had received the exogenous surfactant Curosurf in the combined therapy of HMD; 2 19 (21.1% babies with HMD who had taken Surfactant BL; 3 25 (27.8% surfactant-untreated infants who had died from HMD; 4 26 (28.9% very preterm neonates with extremely low birth weight who had died within the first hour of life. The lungs were histologically and morphometrically examined. Results. The study demonstrated the specific course of HMD when exogenous surfactants and artificial ventilation were used. The contributors to the development of the disease are intranatal amniotic fluid aspiration and intranatal fetal hypoxia. Conclusion. Artificial ventilation and the use of exogenous surfactants do not block the generation of hyaline membranes. The latter differ in formation time, form, and location. The differences in a cell response to hyaline membranes were found in the neonatal infants receiving exogenous surfactants. The characteristic morphological signs of the disease for all the neonates enrolled in the study are alveolar and bronchial epithelial damages and microcirculatory disorders. Key words: preterm neonatal infants, hyaline membrane disease, exogenous surfactants, artificial ventilation, histology, morphometry.

  6. [Advances in hereditary hemochromatosis].

    Science.gov (United States)

    Nardi, Graciela; Cadiz, Claudia; Lachman, J; Cornelio, Cecilia

    2003-01-01

    Hereditary hemocromatosis (HH) is a genetic disease with a recessive autosomic pattern, in which inadequate iron (Fe) absorption is made by the intestinal cell. As consequence of that process, takes place a progressive accumulation of metal in different organs, predominantly in the liver. This leads to an alteration of liver structure and function: cirrhosis and hepatocarcinoma (1). The gene implied in this pathology was identified (HFE) in 1996. This codes a similar molecule to the mayor histocompatibility complex type 1(MHC-T1 like) that can modulate the transport of PE binding the transferrin receptor. This progress allows a deep understanding of the molecular and cellular biology of the homeostasis of the Fe and its alterations in the NH. The diagnosis of disease by means of a genetic test let to carry out a familiar screening and to detect asymptomatic carriers. This makes possible to begin the appropriate treatment at early stages of the disease in order to avoid its consequences and offering a better quality of life to these patients.

  7. Hereditary Hemochromatosis (For Parents)

    Science.gov (United States)

    ... usually diagnose iron overload with these blood tests: serum ferritin : measures the amount of ferritin, a protein that contains iron serum iron: measures iron concentrations in the blood total ...

  8. How Is Hemochromatosis Diagnosed?

    Science.gov (United States)

    ... tests you have may include transferrin saturation (TS), serum ferritin level, and liver function tests. Transferrin is a ... in your body. Your doctor may test your serum ferritin level if your TS level is high. A ...

  9. Systemic Analysis of Atg5-Null Mice Rescued from Neonatal Lethality by Transgenic ATG5 Expression in Neurons.

    Science.gov (United States)

    Yoshii, Saori R; Kuma, Akiko; Akashi, Takumi; Hara, Taichi; Yamamoto, Atsushi; Kurikawa, Yoshitaka; Itakura, Eisuke; Tsukamoto, Satoshi; Shitara, Hiroshi; Eishi, Yoshinobu; Mizushima, Noboru

    2016-10-10

    Autophagy is a cytoplasmic degradation system that is important for starvation adaptation and cellular quality control. Previously, we reported that Atg5-null mice are neonatal lethal; however, the exact cause of their death remains unknown. Here, we show that restoration of ATG5 in the brain is sufficient to rescue Atg5-null mice from neonatal lethality. This suggests that neuronal dysfunction, including suckling failure, is the primary cause of the death of Atg5-null neonates, which would further be accelerated by nutrient insufficiency due to a systemic failure in autophagy. The rescued Atg5-null mouse model, as a resource, allows us to investigate the physiological roles of autophagy in the whole body after the neonatal period. These rescued mice demonstrate previously unappreciated abnormalities such as hypogonadism and iron-deficiency anemia. These observations provide new insights into the physiological roles of the autophagy factor ATG5.

  10. MANAGEMENT OF OMPHALOPHLEBITIS AND UMBILICAL HERNIA IN THREE NEONATAL GIRAFFE (GIRAFFA CAMELOPARDALIS).

    Science.gov (United States)

    Selig, Michael; Lewandowski, Albert; Burton, Michael S; Ball, Ray L

    2015-12-01

    Umbilical disorders, including omphalophlebitis, omphaloarteritis, external umbilical abscesses, urachal abscesses, patent urachus, and umbilical hernias, represent a significant challenge to the health and well-being of a neonate. The three neonatal giraffe (Giraffa camelopardalis) in this report were evaluated for umbilical swellings. Two developed omphalophlebitis, and one had an uncomplicated umbilical hernia. Omphalophlebitis is an inflammation and/or infection of the umbilical vein. Giraffe calves with a failure of passive transfer may be predisposed and should be thoroughly evaluated for the condition. Umbilical hernias result from a failure of the umbilical ring to close after parturition or from malformation of the umbilical ring during embryogenesis. These problems were surgically corrected for all three individuals, although one died due to postsurgical complications. The risks involved include anesthetic complications, surgical dehiscence, and maternal rejection. Early detection and surgical intervention are recommended for the correction of omphalophlebitis and umbilical hernias in neonatal giraffe.

  11. Radiologic findings of neonatal sepsis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sam Soo; Han, Dae Hee; Choi, Guk Myeong; Jung, Hye Won [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of); Yoon, Hye Kyung; Han, Bokyung Kim; Lee, Nam Yong [Sansung Medical Center, Seoul (Korea, Republic of)

    1997-06-01

    To review the simple radiographic and sonographic findings in infants with neonatal sepsis. We retrospectively analyzed simple chest and abdominal radiographs, and brain sonograms in 36 newborn infants (preterm : term=23 :13). With neonatal sepsis diagnosed by blood culture and clinical manifestations. Pulmonary parenchymal infiltrate excluding respiratory distress syndrome and pulmonary edema or atelectasis was found in 22 infants (61%). Paralytic ileus, hepatosplenomegaly, and necrotizing enterocolitis were present in 18(50%), 9(25%), and 1(3%) infants, respectively, while skeletal changes suggesting osteomyelitis were found in three. Brain sonography was performed in 29 infants and in four, abnormalities were seen ; these comprised three germinal matrix hemorrhages and one intraparenchymal hemorrhage. In six patients(17%) radiologic examinations revealed no abnormality. In patients with neonatal sepsis, pulmonary infiltrates and paralytic ileus were common abnormalities. Although these were nonspecific, radiologic findings may be used to supplement clinical and laboratory findings in diagnosing neonatal sepsis and planning its treatment.

  12. Impact of prolonged leucine supplementation on protein synthesis and lean growth in neonatal pigs

    Science.gov (United States)

    Most low-birth weight infants experience extrauterine growth failure due to reduced nutrient intake as a result of feeding intolerance. The objective of this study was to determine whether prolonged enteral leucine supplementation improves lean growth in neonatal pigs fed a restricted protein diet. ...

  13. New-Onset Neonatal Pulmonary Hypertension Associated with a Rhinovirus Infection

    OpenAIRE

    Nishit Patel; The, Tiong G

    2012-01-01

    A 3.5-week-old male neonate who developed an upper and lower respiratory tract rhinovirus infection that was temporally associated with the development of severe pulmonary hypertension is described. Rhinovirus has not previously been associated with pulmonary hypertension. This child developed severe pulmonary hypertension with right ventricular failure, requiring mechanical ventilation, nitric oxide inhalation and, eventually, extracorporeal membrane oxygenation.

  14. Pseudothrombocytopenia in a preterm neonate.

    Science.gov (United States)

    Christensen, Robert D; Sola, Martha C; Rimsza, Lisa M; McMahan, Michael J; Calhoun, Darlene A

    2004-07-01

    Severe and prolonged thrombocytopenia is not uncommon among ill preterm infants. Pseudothrombocytopenia, which has the appearance of severe and prolonged thrombocytopenia, has not been described in this population. We observed a preterm neonate who had EDTA-independent pseudothrombocytopenia and conclude that this condition should be considered when severe and prolonged thrombocytopenia occurs in a neonate in the absence of clinical signs of platelet-type hemorrhage.

  15. Three cases of neonatal tetanus in Papua New Guinea lead to development of national action plan for maternal and neonatal tetanus elimination

    Science.gov (United States)

    Barnabas, Roland; Sitther, Adeline; Guarenti, Laura; Toikilik, Steven; Kariwiga, Grace; Sui, Gerard Pai

    2013-01-01

    Maternal or neonatal tetanus causes deaths primarily in Asia and Africa and is usually the result of poor hygiene during delivery. In 2011, three neonatal tetanus cases were investigated in Papua New Guinea, and all three cases were delivered at home by untrained assistants. The babies were normal at birth but subsequently developed spasms. A neonatal tetanus case must be viewed as a sentinel event indicating a failure of public health services including immunization, antenatal care and delivery care. The confirmation of these cases led to the drafting of the Papua New Guinea National Action Plan for Maternal and Neonatal Tetanus Elimination. This included three rounds of a tetanus toxoid supplementary immunization campaign targeting women of childbearing age (WBCA) and strengthening of other clean delivery practices. The first immunization round was conducted in April and May 2012, targeting 1.6 million WBCA and achieved coverage of 77%. The government of Papua New Guinea should ensure detailed investigation of all neonatal tetanus cases reported in the health information system and perform subprovincial analysis of tetanus toxoid coverage following completion of all three immunization rounds. Efforts also should be made to strengthen clean delivery practices to help eliminate maternal and neonatal tetanus in Papua New Guinea. PMID:24015370

  16. Three cases of neonatal tetanus in Papua New Guinea lead to development of national action plan for maternal and neonatal tetanus elimination.

    Science.gov (United States)

    Datta, Siddharta Sankar; Barnabas, Roland; Sitther, Adeline; Guarenti, Laura; Toikilik, Steven; Kariwiga, Grace; Sui, Gerard Pai

    2013-01-01

    Maternal or neonatal tetanus causes deaths primarily in Asia and Africa and is usually the result of poor hygiene during delivery. In 2011, three neonatal tetanus cases were investigated in Papua New Guinea, and all three cases were delivered at home by untrained assistants. The babies were normal at birth but subsequently developed spasms. A neonatal tetanus case must be viewed as a sentinel event indicating a failure of public health services including immunization, antenatal care and delivery care. The confirmation of these cases led to the drafting of the Papua New Guinea National Action Plan for Maternal and Neonatal Tetanus Elimination. This included three rounds of a tetanus toxoid supplementary immunization campaign targeting women of childbearing age (WBCA) and strengthening of other clean delivery practices. The first immunization round was conducted in April and May 2012, targeting 1.6 million WBCA and achieved coverage of 77%. The government of Papua New Guinea should ensure detailed investigation of all neonatal tetanus cases reported in the health information system and perform subprovincial analysis of tetanus toxoid coverage following completion of all three immunization rounds. Efforts also should be made to strengthen clean delivery practices to help eliminate maternal and neonatal tetanus in Papua New Guinea.

  17. Neonatal Sepsis and Inflammatory Mediators

    Science.gov (United States)

    Reis Machado, Juliana; Soave, Danilo Figueiredo; da Silva, Marcos Vinícius; de Menezes, Liliana Borges; Etchebehere, Renata Margarida; Monteiro, Maria Luiza Gonçalves dos Reis; Antônia dos Reis, Marlene; Corrêa, Rosana Rosa Miranda; Celes, Mara Rúbia Nunes

    2014-01-01

    Neonatal sepsis is a major cause of morbidity and mortality and its signs and symptoms are nonspecific, which makes the diagnosis difficult. The routinely used laboratory tests are not effective methods of analysis, as they are extremely nonspecific and often cause inappropriate use of antibiotics. Sepsis is the result of an infection associated with a systemic inflammatory response with production and release of a wide range of inflammatory mediators. Cytokines are potent inflammatory mediators and their serum levels are increased during infections, so changes from other inflammatory effector molecules may occur. Although proinflammatory and anti-inflammatory cytokines have been identified as probable markers of neonatal infection, in order to characterize the inflammatory response during sepsis, it is necessary to analyze a panel of cytokines and not only the measurement of individual cytokines. Measurements of inflammatory mediators bring new options for diagnosing and following up neonatal sepsis, thus enabling early treatment and, as a result, increased neonatal survival. By taking into account the magnitude of neonatal sepsis, the aim of this review is to address the role of cytokines in the pathogenesis of neonatal sepsis and its value as a diagnostic criterion. PMID:25614712

  18. 血色病肝脏铁沉积的病理特点分析%Pathology of hepatic iron deposition in hemochromatosis

    Institute of Scientific and Technical Information of China (English)

    孙磊; 王鹏; 张亮; 滕晓英; 周新刚; 齐立明; 郎振为; 刘红刚

    2015-01-01

    目的 探讨不同原因造成的血色病肝脏铁沉积程度、分布特点及其与组织学改变的关系.方法 对31例血色病患者肝活体组织标本进行HE、网状纤维、胶原纤维及普鲁士蓝染色,组织学改变及铁沉积情况分别用Ishak评分及Deugnier评分系统评估,部分病例留取外周血进行血色病及相关遗传代谢疾病基因检测.统计处理均使用SPSS 19.0统计软件,用t检验比较两组数据之间的差异. 结果 31例血色病中,1例为遗传性血色病基因突变的原发性血色病伴Gilbert综合征、4例Gilbert综合征铁沉积均主要位于Ⅰ区肝细胞内,围绕汇管区,Ⅰ区至Ⅲ区铁沉积递减,炎症及纤维化程度均较轻;1例Ⅰ型遗传性血色病基因突变的原发性血色病伴乙型肝炎铁沉积与8例病毒性肝炎铁沉积相似,均在小叶内弥漫分布,有明显的肝细胞、肝窦及汇管区细胞铁沉积,炎症及纤维化轻重不一;5例血液系统疾病铁沉积也主要位于Ⅰ区,但肝细胞及肝窦、汇管区细胞均有铁沉积,炎症及纤维化程度较轻;5例脂肪性肝病及5例药物性肝损伤铁沉积量较少,主要位于肿胀或气球样变的肝细胞内;2例食物中铁摄入过多,铁在小叶内弥漫分布,肝细胞、肝窦及汇管区细胞均有.非肝细胞铁沉积评分、肝脏炎症活动度评分和纤维化程度评分:有遗传性疾病患者和无遗传性疾病患者分别为4.09±4.01和8.75±6.54、2.45±1.13和8.20±4.15、0.91±0.30和2.70±1.38,t值分别是-2.45、-5.81、-5.57,P值分别<0.05 ~<0.01.结论 不同原因造成的血色病肝脏铁沉积模式不同,铁在肝内沉积程度、分布特点的分析有助于病因诊断及预后评估.%Objective To identify the type of iron deposition and describe its amount,distribution and associated lesions,in order to support an etiologic diagnosis for hemochromatosis.Methods Hematoxylineosin (HE) stain,reticular fiber stain,Masson's stain and

  19. Respiratory failure

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930118 Facial or nasal mask pressure supportventilation in managing acute exacerbation ofchronic respiratory failure in COPD patients.CHEN Rongchang(陈荣昌),et al.GuangzhouInstit Respir Dis,Guangzhou 510120.Chin Tu-berc & Respir Dis 1992;15(5)285-287.Eleven COPD patients(age:65±9 yrs)withacute exacerbation of chronic respiratory failure(PaCO2 11.3±1.1kPa)were treated with maskpressure support ventilation,another 10 similarpatients(age:68±12yrs)served as controls.Bi-PAP ventilator was used with the followingmodifications:(1)Non-rehreathing valve set-in proximal to mask;(2)5 LPM oxygen flow de-livered into mask to reduce the dead space ef-fect.Mask ventilation was given 2-3 hours ev-ery time and 1-2 times daily for 7 days.Syn-

  20. Congenital echovirus 21 infection causing fulminant hepatitis in a neonate.

    Science.gov (United States)

    Pedrosa, Cristina; Lage, Maria João; Virella, Daniel

    2013-04-09

    Enteroviral infection in pregnancy is common and there is growing evidence relating it to congenital anomalies and neonatal mortality. Neonatal disease may range from unapparent infection to overwhelming systemic illness. Passively acquired maternal serotype specific antibodies determine the severity of the disease in the newborn. A fatal case of congenital echovirus 21 infection, confirmed by PCR in the patient's blood and positive culture of the mother's stools, is reported. A sibling had symptoms of respiratory tract infection and their mother had fever, which prompted iatrogenic delivery that same day. The newborn presented with bradycardia and hypotonia in the first minutes of life and later developed respiratory distress, disseminated intravascular coagulopathy, fulminant hepatitis, acute renal failure and necrotising enterocolitis. Death occurred on the 8 day of life. This case highlights the potential severity of Enteroviral infection in the newborn. Since only supportive treatment is available, prevention is paramount.

  1. Research gaps in neonatal HIV-related care

    Directory of Open Access Journals (Sweden)

    Mary-Ann Davies

    2015-04-01

    Full Text Available The South African prevention of mother to child transmission programme has made excellentprogress in reducing vertical HIV transmission, and paediatric antiretroviral therapyprogrammes have demonstrated good outcomes with increasing treatment initiation inyounger children and infants. However, both in South Africa and across sub-Saharan African,lack of boosted peri-partum prophylaxis for high-risk vertical transmission, loss to followup,and failure to initiate HIV-infected infants on antiretroviral therapy (ART before diseaseprogression are key remaining gaps in neonatal HIV-related care. In this issue of the Southern African Journal of HIV Medicine, experts provide valuable recommendations for addressingthese gaps. The present article highlights a number of areas where evidence is lacking toinform guidelines and programme development for optimal neonatal HIV-related care.

  2. Evaluating venous pool technique for blood sampling in neonatal ICU.

    Science.gov (United States)

    Hatler, Carol; Dalton, Beverly; Day, Susan; Sharfner, Andrea; Hauffe, Rhonda

    2013-01-01

    To evaluate venous pool technique (VPT) for obtaining neonatal blood samples as compared with the needlestick technique. An experimental design was used with subjects enrolled in two phases: an equivalence phase (N = 10) and a comparison phase (N = 64). In the equivalence phase, subjects weighing 1,500 g or more had two needlesticks. In the comparison phase, subjects weighing 800 g or more were randomized to receive blood drawn by either needlestick method or VPT. Comparative results suggest that infant and maternal demographic factors, sampling attempts, and sampling failures were similar. However, for the outcome of hematoma development, the standard technique was significantly worse (t = 2.25 ; p = .029). Results suggest that the VPT method is safe and accurate for use in critically ill neonates. This study demonstrated that the VPT process is easily learned and may provide advantages over standard blood sampling methods. Nurses can use this information to evaluate this VPT technique in their institutions.

  3. Stent Placement in a Neonate with Sano Modification of the Norwood using Semi-Elective Extracorporeal Membrane Oxygenation

    Directory of Open Access Journals (Sweden)

    Mustafa Gulgun

    Full Text Available Abstract Extracorporeal membrane oxygenation (ECMO is a well-established tool of cardiopulmonary circulatory support for cardiopulmonary failure in children and adults. It has been used as a supportive strategy during interventional procedures in neonates with congenital heart disease. Herein, we describe a neonate with hypoplastic left heart syndrome who underwent stenting of the Sano shunt and left pulmonary artery after Norwood Sano operation using intra-procedural ECMO support. The use of ECMO as a bridge to recovery might be a feasible and reasonably safe adjunctive approach in the treatment of complications in selective case of neonates having undergone the Norwood Sano procedure.

  4. Neonatology in the emerging countries: the strategies and health-economics challenges related to prevention of neonatal and infant infections.

    Science.gov (United States)

    Vain, N E; Fariña, D; Vázquez, L N

    2012-05-01

    The prevalence of neonatal and infant infections is higher in emerging countries when compared to the developed world. Major factors associated to this increased frequency include the scarcity of trained health personnel, overcrowding of the neonatal units, late onset and slow advance of feeding, use of formula instead of breastfeeding, failure to comply with handwashing recommendations, and excessive use of antibiotics, resulting in the emergence of resistant strains. Infants discharged home frequently share rooms with a large number of siblings and other cohabitants, increasing the risk of infection by respiratory viruses. Several strategies are described that could decrease these serious problems which impact increasing significantly neonatal and infant mortality rates in developing countries.

  5. Stent Placement in a Neonate with Sano Modification of the Norwood using Semi-Elective Extracorporeal Membrane Oxygenation

    Science.gov (United States)

    Gulgun, Mustafa; Slack, Michael

    2016-01-01

    Extracorporeal membrane oxygenation (ECMO) is a well-established tool of cardiopulmonary circulatory support for cardiopulmonary failure in children and adults. It has been used as a supportive strategy during interventional procedures in neonates with congenital heart disease. Herein, we describe a neonate with hypoplastic left heart syndrome who underwent stenting of the Sano shunt and left pulmonary artery after Norwood Sano operation using intra-procedural ECMO support. The use of ECMO as a bridge to recovery might be a feasible and reasonably safe adjunctive approach in the treatment of complications in selective case of neonates having undergone the Norwood Sano procedure.

  6. 1个遗传性血色病家系的临床MRI诊断%The magnetic resonance imaging findings in a hereditary hemochromatosis pedigree

    Institute of Scientific and Technical Information of China (English)

    李爱华; 黄金明; 孔祥泉; 叶进; 侯晓华

    2011-01-01

    目的 探讨一个遗传性血色病(HH)家系(A)及其旁系(B)的临床MRI特点.方法 对A、B家系成员进行临床、生化、肝穿活检组织铁染色及多器官MRI检查.结果 (1)部分成员有血色病相关临床表现及异常生化指标;(2)3例患者接受肝活检,发现2例肝细胞内较多铁质沉积,另1例未见明显铁沉积;(3)MRI:部分成员心肝脾胰有不同程度的铁质沉积,表现为低信号影,肾脏、大脑均未见铁沉积.结论 (1)该血色病家系HH患者铁质主要沉积在肝脏,其他脏器如心脏、脾脏、胰腺亦有累及;而其旁系可见部分成员生化异常及脏器铁沉着,但尚未发现相关血色病临床表现,是否处于发病早期尚待随访观察;(2)与肝活检相比,MRI对组织铁沉积诊断较为准确.%Objective To describe the clinical and magnetic resonance imaging(MRI) features of a hereditary hemochromatosis(HH)pedigree(A) and its collateral(B).Methods Clinical, biochemical, liver biopsy and MRI studies were carried out among the family members.Results (1)Some of the pedigree members showed hemochromatosis correlating symptom and physical sign.The biochemical values presented different abnormal elevation.(2)3 patients received liver biopsy, of which 2 patients suffered from extensive hepatic hemosiderin deposition which was revealed after the Prussian blue iron stain, and 1 patient was quite normal.(3)Iron overload was found in some members of the pedigree, especially in the liver, pancreas, heart and the spleen by showing low signals on MRI, but no iron overload was observed in the brain and kidney.Conclusion (1)Iron overload was found primarily in the liver and then in the heart, spleen and pancreas of HH members of A portion of the pedigree; only some members of B portion were found having abnormal biochemical examination and iron overload in some organs , without any hemochromatosis correlating symptom and physical sign.Further follow up were needed to know if they were

  7. Octreotide for the treatment of chylothorax in neonates.

    LENUS (Irish Health Repository)

    Das, Animitra

    2012-02-01

    BACKGROUND: Routine care for chylothorax in neonate includes either conservative or surgical approaches. Octreotide, a somatostatin analogue, has been used for the management of patients with refractory chylothorax not responding to conservative management. OBJECTIVES: To assess the efficacy and safety of octreotide in the treatment of chylothorax in neonates. SEARCH STRATEGY: We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library), MEDLINE and EMBASE (to March 7, 2010). We assessed the reference lists of identified trials and abstracts from the annual meetings of the Pediatric Academic Societies published in Pediatric Research (2002 to 2009) without language restrictions. SELECTION CRITERIA: We planned to include randomised or quasi-randomised controlled trials of octreotide in the treatment of congenital or acquired chylothorax in term or preterm neonates, with any dose, duration or route of administration. DATA COLLECTION AND ANALYSIS: Data on primary (amount of fluid drainage, respiratory support, mortality) and secondary outcomes (side effects) were planned to be collected and analysed using mean difference, relative risk and risk difference with 95% confidence intervals. MAIN RESULTS: No randomised controlled trials were identified. Nineteen case reports of 20 neonates with chylothorax in whom octreotide was used either subcutaneously or intravenously were identified. Fourteen case reports described successful use (resolution of chylothorax), four reported failure (no resolution) and one reported equivocal results following use of octreotide. The timing of initiation, dose, duration and frequency of doses varied markedly. Gastrointestinal intolerance and clinical presentations suggestive of necrotizing enterocolitis and transient hypothyroidism were reported as side effects. AUTHORS\\' CONCLUSIONS: No practice recommendation can be made based on the evidence identified in this review. A prospective registry of

  8. INVISIBLE MURDERER: NEONATAL TETANUS

    Directory of Open Access Journals (Sweden)

    Yonca SONMEZ

    2006-06-01

    Full Text Available Neonatal tetanus (NNT has been secondary in the whole world in the death list of diseases which can be protected by the help of vaccine. It’s an important community health problem in the less-developed countries in which pre-birth care services are limited, assisting a mother at childbirth by uneducated people in dirty atmosphere and the immunity against tetanus is not enough. Studies have shown that minor part of the cases have been expressed in most of the countries. Because of that NNT have been called as “silent/invisible murderer”. In Turkey, in the year of 2003 it has been seen 15 cases, and 12 of them have been resulted in death. The methods which will be applied to carry out the elimination of NNT are; the vaccination of pregnant women with at least two doses tetanus toxoid and providing clean birth conditions for all of the pregnant women. However, in Turkey the proportion of the women who have two doses of tetanus vaccine is 41%. To eliminate NNT in our country, all the pregnant women must be attained, the ones who are attained must be presented with qualified pre-birth care service which also includes tetanus immunity and the births must be carried out under healty conditions. As smallpox and polio eradication, NNT elimination will also be accomplished by self-sacrificing works of personnel in primary health care. [TAF Prev Med Bull 2006; 5(3.000: 229-233

  9. Porcine Neonatal Coccidiosis

    Science.gov (United States)

    Sanford, S. E.; Josephson, G. K. A.

    1981-01-01

    Coccidia were identified in intestinal sections from 82 piglets comprising 37 consignments from 34 farms, and represented a yearly increasing incidence in the three years 1978 to 1980. Piglets were primarily from medium to large farms with intensive, continuous-farrowing, confinement-rearing programs. Piglets, usually five days to 15 days old, had yellow, fluid diarrhea, became unthrifty and sometimes died. In six piglets from two farms, a green, adherent, fibrinonecrotic membrane was seen throughout most of the jejunum and ileum. Significant gross lesions were not observed in the other 76 piglets. Moderate to severe villous atrophy of jejunum and ileum was seen histologically. Various asexual and sexual stages of coccidia were seen within parasitophorous vacuoles of villar epithelial cells. Multifocal erosions with necrosis of villar tips and occasionally more diffuse mucosal necrosis with fibrinocellular exudate were seen. Isospora suis oocysts were identified in feces from several weaners from one farm. Amprolium and decoquinate mixed in the sow ration at 1 kg/tonne for three weeks prior to and postfarrowing was moderately successful in stopping outbreaks of neonatal diarrhea associated with coccidiosis. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6. PMID:7343074

  10. Neonatal invasive candidiasis.

    Science.gov (United States)

    Stronati, M; Decembrino, L

    2006-12-01

    Over the last two decades, systemic fungal infections have emerged to play a primary role in hospital-acquired infections. C. albicans is involved in 75% of neonatal candidiasis; however, the incidence of infection from C. parapsilosis is also increasing significantly. The higher incidence observed in the high-risk group of very low birth weight (VLBW) infants is linked to their special physical characteristics and the diagnostic and therapeutic invasive procedures they undergo. Colonization is a relevant risk factor depending on the colonized site , the fungal species and the type of colonization. Serological tests have a low specificity and sensitivity; in many cases, they do not distinguish between colonization and infection. Blood culture, although the best diagnostic test for determining systemic infection, can result negative, even in cases of deep organ involvement. In addition, fungi grow more slowly than bacteria in cultures. So, the difficulty in diagnosing systemic candidiasis and its aspecific clinical features may make empirical therapy appropriate. Amphotericin B (AmB) alone or combined with 5-fluorocytosine remains the drug of choice. Fluconazole represents a valid alternative. Recently developed new formulations of amphotericin incapsulated in liposomes can avoid possible adverse effects. Prognosis depends on the specific micro-organism involved; mortality is higher in the presence of C. albicans. As prognosis is associated with high mortality, prevention measures to reduce risk factors are of critical importance.

  11. A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis

    Directory of Open Access Journals (Sweden)

    Mascarenhas Cláudia

    2008-11-01

    Full Text Available Abstract Background Hereditary Hemochromatosis(HH is a common genetic disorder of iron overload where the large majority of patients are homozygous for one ancestral mutation in the HFE gene. In spite of this remarkable genetic homogeneity, the condition is clinically heterogeneous, varying from a severe disease to an asymptomatic phenotype with only abnormal biochemical parameters. The recent recognition of the variable penetrance of the HH mutation in different large population studies demands the need to search for new modifiers of its phenotypic expression. The present study follows previous observations that MHC class-I linked genetic markers, associated with the setting of CD8+ T-lymphocyte numbers, could be clinically relevant modifiers of the phenotypic expression in HH, and aimed to find new markers that could be used as more reliable prognostic variables. Methods Haplotype analysis, including seven genetic markers within a 1 Mb region around the microsatellite D6S105 was performed in a group of 56 previously characterized C282Y homozygous Portuguese patients. Parameters analyzed in this study were total body iron stores, clinical manifestations related with HH and immunological parameters (total lymphocyte numbers, CD4+ and CD8+ T-lymphocyte numbers. An independent group of 10 C282Y homozygous patients from Vancouver, Canada, were also included in this study and analyzed for the same parameters. Results A highly conserved ancestral haplotype defined by the SNP markers PGBD1-A, ZNF193-A, ZNF165-T (designated as A-A-T was found associated with both abnormally low CD8+ T-lymphocyte numbers and the development of a severe clinical expression of HH. In a small proportion of patients, another conserved haplotype defined by the SNP markers PGBD1-G, ZNF193-G, ZNF165-G (designated as G-G-G was found associated with high CD8+ T-lymphocyte numbers and a milder clinical expression. Remarkably, the two conserved haplotypes defined in Portuguese

  12. Kidney (Renal) Failure

    Science.gov (United States)

    ... How is kidney failure treated? What is kidney (renal) failure? The kidneys are designed to maintain proper fluid ... marrow and strengthen the bones. The term kidney (renal) failure describes a situation in which the kidneys have ...

  13. Acute kidney failure

    Science.gov (United States)

    Kidney failure; Renal failure; Renal failure - acute; ARF; Kidney injury - acute ... There are many possible causes of kidney damage. They include: ... cholesterol (cholesterol emboli) Decreased blood flow due to very ...

  14. Living with Heart Failure

    Science.gov (United States)

    ... page from the NHLBI on Twitter. Living With Heart Failure Currently, heart failure has no cure. You'll ... avoid harmful side effects. Take Steps To Prevent Heart Failure From Getting Worse Certain actions can worsen your ...

  15. Classes of Heart Failure

    Science.gov (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Classes of Heart Failure Updated:Sep 28,2016 Doctors usually classify patients' ... Blood Pressure Tracker Find additional helpful resources here Heart Failure • Home • About Heart Failure Introduction Types of Heart ...

  16. About Heart Failure

    Science.gov (United States)

    ... talk about your health and the medicines About Heart Failure Heart failure is a disease where the heart cannot do ... very important for your health. common causes of heart failure are diseases or conditions that damage the heart. ...

  17. What Is Heart Failure?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Heart Failure? Heart failure is a condition in which the heart can' ... force. Some people have both problems. The term "heart failure" doesn't mean that your heart has stopped ...

  18. Acute Kidney Failure

    Science.gov (United States)

    ... out of balance. Acute kidney failure — also called acute renal failure or acute kidney injury — develops rapidly over ... 2015. Palevsky PM. Definition of acute kidney injury (acute renal failure). http://www.uptodate.com/home. Accessed April ...

  19. Bacterial Culture of Neonatal Sepsis

    Directory of Open Access Journals (Sweden)

    AH Movahedian

    2006-08-01

    Full Text Available Neonatal bacterial sepsis is one of the major cause of morbidity and mortality in neonates. This retrospective study was performed to determine the incidence of bacterial sepsis with focus on Gram negative organisms in neonates admitted at Beheshti Hospital in Kashan, during a 3-yr period, from September 2002 to September 2005. Blood culture was performed on all neonates with risk factors or signs of suggestive sepsis. Blood samples were cultured using brain heart infusion (BHI broth according to standard method. From the 1680 neonates 36% had positive blood culture for Pseudomans aeruginosa, 20.7% for Coagulase negative Staphylococci, and 17% for Klebsiella spp. Gram-negative organisms accounted for 72.1% of all positive cultures. The overall mortality rate was 19.8% (22 /111 of whom 63.6% (14 /22 were preterm. Pseudomona aeruginosa and Klebsiella spp. showed a high degree of resistance to commonly used antibiotics (ampicillin, gentamicin as well as third generation cephalosporins. Continued local surveillance studies are urged to monitor emerging antimicrobial resistance and to guide interventions to minimize its occurrence.

  20. The Effects of Increased Maternal Visual Regard of Neonate Upon the Neonate-Mother Interaction.

    Science.gov (United States)

    Belcastro, Christina M.; And Others

    This study attempts to investigate the effects of increased maternal visual regard on neonatal social visual behavior and upon patterns of mother-neonate interaction within the context of a learning theory paradigm. Subjects were 3-day-old neonates and their mothers; with 10 of the 15 mother-neonate pairs as the experimental group, and 5 as the…

  1. Neonatal pressure ulcers: prevention and treatment

    National Research Council Canada - National Science Library

    García-Molina P; Alfaro-López A; García-Rodríguez SM; Brotons-Payá C; Rodríguez-Dolz MC; Balaguer-López E

    2017-01-01

    .... Neonates often suffer from diaper rash or intravenous drugs extravasation. Recently, hospitalized neonates and especially those in an unstable clinical situation are also at a risk of developing pressure ulcers...

  2. Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association.

    Science.gov (United States)

    Özdemir, Özmert Ma; Çıralı, Ceren; Yılmaz Ağladıoğlu, Sebahat; Evrengül, Havva; Tepeli, Emre; Ergin, Hacer

    2016-09-01

    Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS. © 2016 Japan Pediatric Society.

  3. Neonatal and infantile acne vulgaris: an update.

    Science.gov (United States)

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  4. Neonatal hemophilia: a rare presentation

    Directory of Open Access Journals (Sweden)

    Nuno Ferreira

    2015-12-01

    Full Text Available Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding.

  5. OUTCOME OF NEONATES WITH THROMBOCYTOPENIA

    Directory of Open Access Journals (Sweden)

    Sharangouda

    2014-04-01

    Full Text Available OBJECTIVE: To determine etiology, onset, clinical features and outcome of neonates with thrombocytopenia. METHODS: 140 neonates having bleeding or having platelet count (<1.5lakhs/µl were selected from those admitted to NICU’S attached to MR Medical College, Gulbarga. Initial platelet count was done on admission and counts were repeated 12 hours after any therapeutic intervention. OBSERVATION AND RESULTS: Severe thrombocytopenia (<50000/µl was present in 8.5%, moderate (50, 000-1, 00, 000/µl in 17%. Majority (45.33% were preterm and the major cause was sepsis in 51.3%.Mucosal bleed was the most common presentation. Mortality was 37% in severe and 3.9% in moderate thrombocytopenia group. CONCLUSION: Significant association is observed with maternal PIH, Late onset sepsis, NEC and sepsis with DIC .Prematurity, IUGR, Birth asphyxia were common associated morbidities. Severe thrombocytopenia in sick neonates, in NICU, is a poor prognostic indicator.

  6. Two Neonates with Congenital Hydrocolpos

    Directory of Open Access Journals (Sweden)

    Vydehi Murthy

    2013-01-01

    Full Text Available Introduction. Neonatal hydrocolpos is a rare condition. Hydrocolpos is cystic dilatation of the vagina with fluid accumulation due to a combination of stimulation of secretary glands of the reproductive tract and vaginal obstruction. The differential for a neonatal presentation of lower abdominal mass includes urogenital anomalies, Hirschsprung’s, disease or sacrococcygeal teratoma. Prenatal diagnosis and early newborn imaging studies leads to early detection and treatment of these cases. Case. We report here two cases of neonatal hydrocolpos with prenatal diagnosis of lower abdominal mass. Postnatally, ultrasound, MRI imaging, and cystoscopy confirmed large cystic mass as hydrocolpos with distal vaginal obstruction. Both patients had enlarged renal system secondary to mass effect. Conclusion. High index of suspicion for hydrocolpos in a newborn presenting with fetal diagnosis of infraumbilical abdominal mass will facilitate timely intervention and prevention of complications.

  7. Comparison of serum cardiac troponin-I and creatine kinase MB isoenzyme concentrations in asphyxiated neonates

    Institute of Scientific and Technical Information of China (English)

    Nouran F.Hussien; Eman A.Abdel Ghany; Amany E.Elwan; Yasser H.Kamel; Dina K.Ali

    2009-01-01

    Objective:To assess the correlation of signs of myocardial damage to serum cardiac tmponin I(cTnI)and creatine kinase MB isoenzyme(CK-MB)concentrations.Methods:Blood samples were collected from 25 term asphyxiated neonates and 25 controls at 12 h of age by immunoassay.The asphyxiated neonates were followed up until discharge or death.Results:Asphyxiated neonates had significanfly higher concentrations of cTnI and CK-MB than controls(P<0.001).Serum cTnI concentrations were significantly higher in asphyxiated neonates who developed hypotension,heart failure or those had low ejection fraction(P<0.01).Serum cTnI concentrations were significantly higher in asphyxiated who died than those who survived(P<0.01).There was no significant difference in selMnl CK-MB mass concentrations between asphyxiated neonates with and without these complications.Conclusion:Unlike CK-MB,serum cTnI concentrations are significantly higher in asphyxiated neonates who died or developed cardiac dysfunction.

  8. 21 CFR 880.5400 - Neonatal incubator.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Neonatal incubator. 880.5400 Section 880.5400 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL... § 880.5400 Neonatal incubator. (a) Identification. A neonatal incubator is a device consisting of...

  9. Regulation of muscle growth in neonates

    Science.gov (United States)

    This review reports recent findings on the multiple factors that regulate skeletal muscle growth in neonates. Skeletal muscle is the fastest growing protein mass in neonates. The high rate of neonatal muscle growth is due to accelerated rates of protein synthesis accompanied by the rapid accumulatio...

  10. Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands

    DEFF Research Database (Denmark)

    Milman, Nils; á Steig, Torkil; Koefoed, Pernille;

    2004-01-01

    The aim of the study was to assess the frequencies of the hereditary hemochromatosis HFE mutations C282Y, H63D, and S65C in the population in the Faroe Islands. The series comprised 200 randomly selected blood donors of Faroese heritage. The frequency of the C282Y, H63D, and S65C mutations...... on the HFE gene was assessed by genotyping using the polymerase chain reaction (PCR) technique and calculated from direct allele counting. We found no C282Y homozygous subjects; 28 (14.0%) subjects were C282Y heterozygous and four subjects were C282Y/H63D compound heterozygous (2.0%). The C282Y allele.......3-2.5%). The frequency of the C282Y mutation is high in Faroese blood donors, being close to and not significantly different from the frequencies reported in other Scandinavian countries: Denmark 5.7%, Norway 6.6%, Iceland 5.1%, and Sweden 6.1%. The frequency of the H63D mutation in Faroese subjects is significantly...

  11. The efficiency of therapeutic erythrocytapheresis compared to phlebotomy: a mathematical tool for predicting response in hereditary hemochromatosis, polycythemia vera, and secondary erythrocytosis.

    Science.gov (United States)

    Evers, Dorothea; Kerkhoffs, Jean-Louis; Van Egmond, Liane; Schipperus, Martin R; Wijermans, Pierre W

    2014-06-01

    Recently, therapeutic erythrocytapheresis (TE) was suggested to be more efficient in depletion of red blood cells (RBC) compared to manual phlebotomy in the treatment of hereditary hemochromatosis (HH), polycythemia vera (PV), and secondary erythrocytosis (SE). The efficiency rate (ER) of TE, that is, the increase in RBC depletion achieved with one TE cycle compared to one phlebotomy procedure, can be calculated based on estimated blood volume (BV), preprocedural hematocrit (Hct(B)), and delta-hematocrit (ΔHct). In a retrospective evaluation of 843 TE procedures (in 45 HH, 33 PV, and 40 SE patients) the mean ER was 1.86 ± 0.62 with the highest rates achieved in HH patients. An ER of 1.5 was not reached in 37.9% of all procedures mainly concerning patients with a BV below 4,500 ml. In 12 newly diagnosed homozygous HH patients, the induction phase duration was medially 38.4 weeks (medially 10.5 procedures). During the maintenance treatment of HH, PV, and SE, the interval between TE procedures was medially 13.4 weeks. This mathematical model can help select the proper treatment modality for the individual patient. Especially for patients with a large BV and high achievable ΔHct, TE appears to be more efficient than manual phlebotomy in RBC depletion thereby potentially reducing the numbers of procedures and expanding the interprocedural time period for HH, PV, and SE.

  12. Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.

    Science.gov (United States)

    Radio, Francesca Clementina; Majore, Silvia; Aurizi, Caterina; Sorge, Fiammetta; Biolcati, Gianfranco; Bernabini, Sara; Giotti, Irene; Torricelli, Francesca; Giannarelli, Diana; De Bernardo, Carmelilia; Grammatico, Paola

    2015-06-01

    Hereditary hemochromatosis (HH) is a heterogeneous disorder of iron metabolism. The most common form of the disease is Classic or type 1 HH, mainly caused by a biallelic missense p.Cys282Tyr (c.845G>A) mutation in the HFE gene. However, the penetrance of p.Cys282Tyr/p.Cys282Tyr genotype is incomplete in terms of both biochemical and clinical expressivity. Lack of penetrance is thought to be caused by several genetic and environmental factors. Recently, a lot of evidences on HH genetic modifiers were produced, often without conclusive results. We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL gene, rs1439816 in SLC40A1 gene, rs41295942 in TFR2 gene and rs2111833 in TMPRSS6 gene) with uncertain function in order to further evaluate their role in an independent cohort of 109 HH type 1 patients. Our results make it likely the role of rs10421768, rs235756, rs2230267 and rs1439816 polymorphisms, respectively in HAMP, BMP2, FTL and SLC40A1 genes in HH expressivity. In addition, previous and our findings support a hypothetical multifactorial model of HH, characterized by a principal gene (HFE in HH type 1) and minor genetic and environmental factors that still have to be fully elucidated.

  13. Reference Intervals in Neonatal Hematology.

    Science.gov (United States)

    Henry, Erick; Christensen, Robert D

    2015-09-01

    The various blood cell counts of neonates must be interpreted in accordance with high-quality reference intervals based on gestational and postnatal age. Using very large sample sizes, we generated neonatal reference intervals for each element of the complete blood count (CBC). Knowledge of whether a patient has CBC values that are too high (above the upper reference interval) or too low (below the lower reference interval) provides important insights into the specific disorder involved and in many instances suggests a treatment plan. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. [Advances in neonatal intensive medicine].

    Science.gov (United States)

    Pérez-González, J; Olivares, J L; Ventura, P; Fabre, E

    1983-09-01

    In the last few year a significative reduction on the rates of neonatal morbimortality have appeared. This has been achieved because a better understanding of embrio-fetal physiology, emerged under the patronage of technological development: new diagnostic techniques, monitorization (physiological and therapeutical) in both, pre and postnatal periods. This model of attendance (perinatology) has its' climax in neonatal intensive care. New scientific plans have to be examined continuously in a critical way, according with ethical reasons related with this type of medical assistance.

  15. Severe anemia and hydrops in a neonate with parvovirus B19 infection: a case report

    OpenAIRE

    Negar Sajjadian; Ramin Jahadi

    2013-01-01

    Background: Anemia at the time of birth may cause some problem like asphyxia, heart failure shock or even death in a neonate. Different etiologies can be considered for this problem. Parvovirus B19, as a viral organism, can cause hydrops fetalis and neonatal anemia and consequent complications. We present here a case of newborn infant with severe anemia who had human parvovirus B19 infection.Case Presentation: A male newborn with gestational age of 36 week was born from a mother with poor pre...

  16. BRAF V600E-Positive Multisite Langerhans Cell Histiocytosis in a Preterm Neonate

    Directory of Open Access Journals (Sweden)

    Sara V. Bates

    2013-10-01

    Full Text Available Hemorrhagic pustules with a “blueberry muffin” appearance accompanied by respiratory failure in a neonate present a challenging differential diagnosis that includes infections and neoplasms. We present a case of multiorgan, multisite Langerhans cell histiocytosis (LCH, positive for the oncogenic BRAF V600E mutation, in a preterm neonate. Infants with LCH pose a diagnostic challenge due to their heterogeneous presentations. This case is unusual in that the newborn presented with severe multiorgan involvement. Due to the rare incidence, wide spectrum of clinical manifestations, and high mortality rate, clinicians must maintain a high index of suspicion for LCH.

  17. [Algorithm for the management of nasal obstruction in neonates and infants].

    Science.gov (United States)

    Rodríguez, Hugo; Cuestas, Giselle; Rodríguez D Aquila, Máximo; Rodríguez D Aquila, Juan A

    2016-10-01

    The main cause of nasal obstruction in neonates and infants is inflammatory or infectious rhinitis. Congenital, neoplastic, traumatic or iatrogenic causes are less frequent. The pediatrician will alert to signs and symptoms of diseases less commonbut serious which should be diagnosed early. We present a proposal of simple algorithm for the management of unilateral and bilateral nasal obstruction in neonates and infants. We describe the pathologies that cause nasal respiratory failure, either those that occur very often or those which are important for their severity, their guiding symptoms to the presumptive diagnosis, additional studies and treatment.

  18. Intestinal failure in childhood

    African Journals Online (AJOL)

    citrulline levels are predictive of intestinal recovery, or not, remains to be confirmed. ... GI secretions, salivary Epidermal Growth Factor (EGF) release and gallbladder .... This cause of neonatal diarrhoea requires permanent PN. However,.

  19. Types of Heart Failure

    Science.gov (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Types of Heart Failure Updated:Feb 9,2017 Left-sided heart failure ... making. This content was last reviewed April 2015. Heart Failure • Home • About Heart Failure Introduction Types of Heart ...

  20. ROLE OF TUMOR NECROSIS FACTOR IN NEONATAL SEPSIS

    Institute of Scientific and Technical Information of China (English)

    史源; 沈际臬; 汪江淮; 李华强; 覃世文; 刘韧

    1994-01-01

    In order to assess the role of tumor necrosis factor (TNF) in neonatal sepsis,plasma TNF levels were deter-mined by a method using L929 cells at the time of septic work-up in 67 neonates.Thirty-three patients with sepsis were found to have significantly higher TNF levels (533.33±468.74U/ml;1U corresponding to 1.67 pg re-combinant TNF)as compared with 34 non-sepsis patients (100.0±188,974U/ml)and 30 healthy newborns (27.33±16.17U/ml,P<0.05,respectively),The upper limit of normal plasma TNF levels was 60U/ml and the best cutoff value for predicting neonatal sepsis was 160U/ml.This had remarkable sensitivity (88%).Plasma TNF levels were significantly associated with the occurrence of shock,organ failure,sclerema and outcome.Thus,anti-TNF anti-bodies might be used in protecting newborns from septic death.

  1. The interplay between drugs and the kidney in premature neonates.

    Science.gov (United States)

    Schreuder, Michiel F; Bueters, Ruud R G; Allegaert, Karel

    2014-11-01

    The kidney plays a central role in the clearance of drugs. However, renal drug handling entails more than glomerular filtration and includes tubular excretion and reabsorption, and intracellular metabolization by cellular enzyme systems, such as the Cytochrome P450 isoenzymes. All these processes show maturation from birth onwards, which is one of the reasons why drug dosing in children is not simply similar to dosing in small adults. As kidney development normally finishes around the 36th week of gestation, being born prematurely will result in even more immature renal drug handling. Environmental effects, such as extra-uterine growth restriction, sepsis, asphyxia, or drug treatments like caffeine, aminoglycosides, or non-steroidal anti-inflammatory drugs, may further hamper drug handling in the kidney. Dosing in preterm neonates is therefore dependent on many factors that need to be taken into account. Drug treatment may significantly hamper postnatal kidney development in preterm neonates, just like renal immaturity has an impact on drug handling. The restricted kidney development results in a lower number of nephrons that may have several long-term sequelae, such as hypertension, albuminuria, and renal failure. This review focuses on the interplay between drugs and the kidney in premature neonates.

  2. Novel optical system for neonatal brain imaging

    Science.gov (United States)

    Chen, Yu; Zhou, Shuoming; Nioka, Shoko; Chance, Britton; Anday, Endla; Ravishankar, Sudha; Delivoria-Papadopoulos, Maria

    1999-03-01

    A highly portable, fast, safe and affordable imaging system that provides interpretable images of brain function in full- and pre-term neonates within a few seconds has been applied to neonates with normal and pathological states. We have used a uniquely sensitive optical tomography system, termed phased array, which has revealed significant functional responses, particularly to parietal stimulation in neonate brain. This system can indicate the blood concentration and oxygenation change during the parietal brain activation in full- and pre-term neonates. The preliminary clinical results, especially a longitudinal study of a cardiac arrest neonate, suggest a variety of future applications.

  3. The challenges of neonatal magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Arthurs, Owen J.; Graves, Martin J.; Lomas, David J. [Addenbrooke' s Hospital, Cambridge University Hospitals NHS Foundation Trust, Department of Radiology, Cambridge (United Kingdom); Edwards, Andrea [Addenbrooke' s Hospital, Cambridge University Hospitals NHS Foundation Trust, Department of Radiology, Cambridge (United Kingdom); Addenbrooke' s Hospital, Department of Neonatology, Cambridge (United Kingdom); Austin, Topun [Addenbrooke' s Hospital, Department of Neonatology, Cambridge (United Kingdom)

    2012-10-15

    Improved neonatal survival rates and antenatal diagnostic imaging is generating a growing demand for postnatal MRI examinations. Neonatal brain MRI is now becoming standard clinical care in many settings, but with the exception of some research centres, the technique has not been optimised for imaging neonates and small children. Here, we review some of the challenges involved in neonatal MRI, including recent advances in overall MR practicality and nursing practice, to address some of the ways in which the MR experience could be made more neonate-friendly. (orig.)

  4. Susceptibility weighted imaging of the neonatal brain

    Energy Technology Data Exchange (ETDEWEB)

    Meoded, A.; Poretti, A. [Division of Pediatric Radiology and Division of Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, MD (United States); Northington, F.J. [Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD (United States); Tekes, A.; Intrapiromkul, J. [Division of Pediatric Radiology and Division of Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, MD (United States); Huisman, T.A.G.M., E-mail: thuisma1@jhmi.edu [Division of Pediatric Radiology and Division of Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, MD (United States)

    2012-08-15

    Susceptibility weighted imaging (SWI) is a well-established magnetic resonance technique, which is highly sensitive for blood, iron, and calcium depositions in the brain and has been implemented in the routine clinical use in both children and neonates. SWI in neonates might provide valuable additional diagnostic and prognostic information for a wide spectrum of neonatal neurological disorders. To date, there are few articles available on the application of SWI in neonatal neurological disorders. The purpose of this article is to illustrate and describe the characteristic SWI findings in various typical neonatal neurological disorders.

  5. Understanding chronic heart failure

    OpenAIRE

    Fenton, Matthew; Burch, Michael

    2007-01-01

    The key principles of chronic heart failure and the development of clinical management strategies are described. The physiological changes in chronic heart failure and the clinical management of children with heart failure are considered, but the treatment of heart failure related to congenital heart disease or the intensive care management of heart failure are not mentioned as both topics require consideration in their own right. A greater understanding of the maladaptive responses to chroni...

  6. Immune mediated liver failure

    OpenAIRE

    Wang, Xiaojing; Ning, Qin

    2014-01-01

    Liver failure is a clinical syndrome of various etiologies, manifesting as jaundice, encephalopathy, coagulopathy and circulatory dysfunction, which result in subsequent multiorgan failure. Clinically, liver failure is classified into four categories: acute, subacute, acute-on-chronic and chronic liver failure. Massive hepatocyte death is considered to be the core event in the development of liver failure, which occurs when the extent of hepatocyte death is beyond the liver regenerative capac...

  7. Understanding contraceptive failure

    OpenAIRE

    Trussell, James

    2009-01-01

    Contraceptive failure is a major source of unintended pregnancy. This chapter will review sources of data and measurement of contraceptive failure, summarize results from the literature on the risks of contraceptive failure during typical and perfect use for available methods of contraception, provide a tool for communicating risks of contraceptive failure to clients, examine determinants of contraceptive failure, and identify methodological pitfalls in the published literature.

  8. Therapeutic drug monitoring in neonates.

    Science.gov (United States)

    Pauwels, Steven; Allegaert, Karel

    2016-04-01

    Therapeutic drug monitoring (TDM) aims to integrate drug measurement results into clinical decision making. The basic rules apply when using TDM in neonates (aminoglycosides, vancomycin, phenobarbital, digoxin), but additional factors should also be taken into account. First, due to both pharmacokinetic variability and non-pharmacokinetic factors, the correlation between dosage and concentration is poor in neonates, but can be overcome with the use of more complex, validated dosing regimens. Second, the time to reach steady state is prolonged, especially when no loading dose is used. Consequently, the timing of TDM sampling is important in this population. Third, the target concentration may be uncertain (vancomycin) or depend on specific factors (phenobarbital during whole body cooling). Finally, because of differences in matrix composition (eg, protein, bilirubin), assay-related inaccuracies may be different in neonates. We anticipate that complex validated dosing regimens, with subsequent TDM sampling and Bayesian forecasting, are the next step in tailoring pharmacotherapy to individual neonates. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  9. Neonatal sulfur amino acid metabolism

    NARCIS (Netherlands)

    M.A. Riedijk (Maaike)

    2008-01-01

    textabstractAt birth, infants can be classified either by gestational age (GA) or by weight. Neonates born < 37 weeks are classified as preterm, < 28 weeks as very preterm and < 26 weeks as extremely preterm infants. Prematurely born infants can also be classified by birth weight as follows (1): - L

  10. Pathophysiology of Equine Neonatal Septicemia

    Directory of Open Access Journals (Sweden)

    Juan Carlos Ospina Chirivi

    2014-07-01

    Full Text Available Neonatal septicemia is a major cause of mortality and morbidity in horses in their first seven days of life and within their pathophysiology. It is important to consider the extrinsic and intrinsic predisposing factors which make foals susceptible to agents of primarily bacterial etiology. However, other types of infectious etiology (viruses and fungi should be considered too, as well as noninfectious etiologies. The paper mentions a wide variety of mechanisms that produce different injuries that must be addressed with measures of critical neonatal care, so it is imperative for the veterinarian to know the pathogenic mechanisms of the disease, its clinical presentation and anatomo-pathological lesions. Thus, systemic inflammatory response syndrome (SIRS, multiple organ dysfunction syndrome (MODS, and peripheral circulatory collapse or shock are some of the elements defined as the pillars of the pathophysiology of neonatal septicemia, extensively studied in equine medicine. This paper presents a short review of the triggering mechanisms of neonatal septicemia highlighting the importance of epidemiological investigations in Colombia. It shows the need for retrospective and prospective studies and for divulgation of some of the preventive measures of the disease in horses.

  11. Multiple organ failure in the newborn

    Directory of Open Access Journals (Sweden)

    Roberto Aufieri

    2014-06-01

    Full Text Available Multiple organ failure (MOF, or multiple organ dysfunction syndrome (MODS as more recently known, is a clinical syndrome characterized by the failure of two, or more, organs which are unable to maintain homeostasis without intervention. Described causative factors for MODS in the neonatal period are sepsis, shock due to any cause, tissue hypoperfusion, prematurity, hypoxic ischemic encephalopathy, necrotizing enterocolitis (NEC, surgery, congenital heart disease and others. MOF can be considered as the final common pathway of immunological, cytokine and hormonal changes, occurred as physiologic re- sponse to different infectious or non-infectious inflammatory insults, who lead to systemic inflammation, a procoagulant state and progressive organ dysfunction. The clinical presentation of MODS can widely vary, depending on the primary causes, nature, number and severity of the organ systems involved. Pre-MODS conditions should be promptly identified and treated. In case of severe sepsis and septic shock, the available guidelines should be followed. When MODS already occurred, supportive care for single organ dysfunction should be provided and adequate oxygenation and organ perfusion maintained. More studies in term and preterm infants (with the development of specific neonatal scoring systems are needed, to further understand neonatal MODS and assess strategies for early prevention and treatment. Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  12. Phenobarbital for Neonatal Seizures: Response Rate and Predictors of Refractoriness.

    Science.gov (United States)

    Spagnoli, Carlotta; Seri, Stefano; Pavlidis, Elena; Mazzotta, Silvia; Pelosi, Annalisa; Pisani, Francesco

    2016-10-01

    Background Phenobarbital is the first-line choice for neonatal seizures treatment, despite a response rate of approximately 45%. Failure to respond to acute anticonvulsants is associated with poor neurodevelopmental outcome, but knowledge on predictors of refractoriness is limited. Objective To quantify response rate to phenobarbital and to establish variables predictive of its lack of efficacy. Methods We retrospectively evaluated newborns with electrographically confirmed neonatal seizures admitted between January 1999 and December 2012 to the neonatal intensive care unit of Parma University Hospital (Italy), excluding neonates with status epilepticus. Response was categorized as complete (cessation of clinical and electrographic seizures after phenobarbital administration), partial (reduction but not cessation of electrographic seizures with the first bolus, response to the second bolus), or absent (no response after the second bolus). Multivariate analysis was used to identify independent predictors of refractoriness. Results Out of 91 newborns receiving phenobarbital, 57 (62.6%) responded completely, 15 (16.5%) partially, and 19 (20.9%) did not respond. Seizure type (p = 0.02), background electroencephalogram (EEG; p ≤ 0.005), and neurologic examination (p  ≤  0.005) correlated with response to phenobarbital. However, EEG (p  ≤  0.02) and seizure type (p  ≤  0.001) were the only independent predictors. Conclusion Our results suggest a prominent role of neurophysiological variables (background EEG and electrographic-only seizure type) in predicting the absence of response to phenobarbital in high-risk newborns. Georg Thieme Verlag KG Stuttgart · New York.

  13. Eosinophilic Endomyocarditis: A Rare Case of Neonatal Mortality

    Directory of Open Access Journals (Sweden)

    Allison J. Pollock

    2015-10-01

    Full Text Available Background - Eosinophilic endomyocarditis (EEM is a rare diagnosis that is extremely uncommon in newborns. This case report aimed to present a case of neonatal mortality from acute cardiac failure due to EEM. Case - Our report presents a term male neonate with minor complications in the immediate postnatal course, who was discharged at 48 hours of life, but who developed unexpected respiratory distress, followed by cardiac arrest and death at 3 days of life. One day after discharge, the infant developed respiratory distress and cool skin, and then developed cardiac arrest at the pediatrician's office, undergoing resuscitation with intravenous fluid, cardiopulmonary resuscitation, epinephrine, atropine, and failed intubation. Autopsy revealed EEM, an inflammatory infiltrative process involving the endomyocardium. Pathology - Pathogenesis involves three stages: (1 myocarditis with an acute eosinophilic inflammatory infiltrate followed by (2 myocyte necrosis and eventually (3 fibrosis in the final stage of the disease. Discussion - The cause of death was acute cardiac failure due to intense eosinophilic infiltration and degranulation with early subendocardial myocyte necrosis but before development of extensive myocyte necrosis. This case appears to be the youngest patient reported with EEM.

  14. The neonate was born with holoprosencephaly

    Directory of Open Access Journals (Sweden)

    reza saeidi

    2014-12-01

    Full Text Available holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it is the most common forebrain developmental anomaly in humans with prevalence of 1/16,000 in live borns, an incidence as high as 1:250 in conceptuses, and a worldwide distribution6. The etiology of HPE is very heterogeneous. First, this pathology can be caused by environmental or metabolic factors. The only formally recognized environmental factors are insulin-dependent diabetes mellitus (1% risk of HPE and maternal alcoholism with a risk that cumulates with smoking . Clinical expression is variable, extending in unbroken sequence from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial holoprosencephaly. Here. we report a boy 39 weeks neonatal case of holoprosencephaly with Antenatal ultrasonographic diagnosis, with microcephaly, hypotelorism, flat nose, a single nostril, a midline cleft lip and palate microcephaly.

  15. The neonate was born with holoprosencephaly

    Directory of Open Access Journals (Sweden)

    reza saeidi

    2014-08-01

    Full Text Available holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it is the most common forebrain developmental anomaly in humans with prevalence of 1/16,000 in live borns, an incidence as high as 1:250 in conceptuses, and a worldwide distribution6. The etiology of HPE is very heterogeneous. First, this pathology can be caused by environmental or metabolic factors. The only formally recognized environmental factors are insulin-dependent diabetes mellitus (1% risk of HPE and maternal alcoholism with a risk that cumulates with smoking . Clinical expression is variable, extending in unbroken sequence from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial holoprosencephaly. Here. we report a boy 39 weeks neonatal case of holoprosencephaly with Antenatal ultrasonographic diagnosis, with microcephaly, hypotelorism, flat nose, a single nostril, a midline cleft lip and palate microcephaly.

  16. Characteristics of neonatal GBS disease during a multicentre study (2007-2010) and in the year 2012.

    Science.gov (United States)

    Creti, Roberta; Berardi, Alberto; Baldassarri, Lucilla; Imperi, Monica; Pataracchia, Marco; Alfarone, Giovanna; Recchia, Simona

    2013-01-01

    The characteristics of Group B Streptococcal (GBS) early onset (EOD) and late onset (LOD) neonatal infections in Italy were analyzed. Two periods were considered, a first 3-years period (2007-2010), when notification of GBS infections was enforced under the auspices of the Italian Ministry of Health, and a second 1 year period (2012) when reporting on neonatal GBS disease continued on voluntary basis. A standardized form was used to collect data on cases of neonatal GBS disease. They included both maternal and neonatal data. The two surveys underlined that preterm deliveries, precipitous labor and negatively GBS screened mothers are common causes of EOD occurrence, possibly explained by inadequate, or lack of, intrapartum antibiotic prophylaxis. Nevertheless, measures for reducing prevention failures and EOD incidence by an higher adherence to prevention strategies, as the Centre for Disease Control recommendations, are still possible and should be encouraged.

  17. Characteristics of neonatal GBS disease during a multicentre study (2007-2010 and in the year 2012

    Directory of Open Access Journals (Sweden)

    Roberta Creti

    2013-12-01

    Full Text Available INTRODUCTION: The characteristics of Group B Streptococcal (GBS early onset (EOD and late onset (LOD neonatal infections in Italy were analyzed. Two periods were considered, a first 3-years period (2007-2010, when notification of GBS infections was enforced under the auspices of the Italian Ministry of Health, and a second 1 year period (2012 when reporting on neonatal GBS disease continued on voluntary basis. METHODS: A standardized form was used to collect data on cases of neonatal GBS disease. They included both maternal and neonatal data. RESULTS AND DISCUSSION: The two surveys underlined that preterm deliveries, precipitous labor and negatively GBS screened mothers are common causes of EOD occurrence, possibly explained by inadequate, or lack of, intrapartum antibiotic prophylaxis. Nevertheless, measures for reducing prevention failures and EOD incidence by an higher adherence to prevention strategies, as the Centre for Disease Control recommendations, are still possible and should be encouraged.

  18. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

    Science.gov (United States)

    Poll-The, B T; Saudubray, J M; Ogier, H A; Odièvre, M; Scotto, J M; Monnens, L; Govaerts, L C; Roels, F; Cornelis, A; Schutgens, R B

    1987-09-01

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.

  19. Technological advances in extracorporeal membrane oxygenation for respiratory failure.

    Science.gov (United States)

    Rehder, Kyle J; Turner, David A; Bonadonna, Desiree; Walczak, Richard J; Rudder, Robert J; Cheifetz, Ira M

    2012-08-01

    Extracorporeal membrane oxygenation (ECMO) for neonatal and pediatric cardiac and/or respiratory failure is well established, and its use for adult respiratory failure is rapidly increasing. Management strategies developed over the past 30 years coupled with significant recent technological advances have led to improved ECMO survival. These new technologies are expanding the potential applications for ECMO in exciting ways, including new patient populations and the ability to make ECMO mobile for both intra- and inter-hospital transport. In this article, we highlight some of the recent technological advances and their impact on the utilization of ECMO in increasingly diverse patient populations.

  20. Diagnostic imaging in neonatal stroke; Bildgebende Diagnostik des Neonatal stroke

    Energy Technology Data Exchange (ETDEWEB)

    Kuhle, S.; Ipsiroglu, O.; Weninger, M. [Universitaetsklinik fuer Kinder- und Jugendheilkunde, Wien (Austria). Abt. fuer Neonatologie, angeborene Stoerungen und Intensivmedizin; Puig, S.; Prayer, D. [Universitaetsklinik fuer Radiodiagnostik, Wien (Austria)

    2000-01-01

    A cerebral artery infarction is an important differential diagnosis in the newborn with neurological abnormalities. Based on clinical data, its incidence is estimated to be 1 in 4000 newborns. Since the course is often subclinical, the true incidence is probably higher. Diagnosis: Cerebral ultrasound and Doppler sonography as readily available screening tools play a central role in the initial diagnosis of neonatal cerebral infarction. Definitive diagnosis is made by computed tomography or magnetic resonance imaging. Beside symptomatic anticonvulsive therapy, treatment aims at the prevention of secondary ischemic injury. Discussion: Three term infants with different clinical courses of neonatal stroke are presented to sensitize the clinician and the radiologist for this probably underdiagnosed entity. The role of imaging modalities in the diagnosis and follow-up of neonatal cerebral infarction is discussed. (orig.) [German] Ein Infarkt im Stromgebiet der Zerebralarterien stellt eine wichtige Differentialdiagnose bei neurologischen Auffaelligkeiten in der Neonatalperiode dar. Die Inzidenz wird anhand von klinischer Daten auf 1:4000 Lebendgeborene geschaetzt. Da der Verlauf oft subklinisch ist, liegt die wahre Inzidenz wahrscheinlich hoeher. Diagnose: Bei der Diagnosestellung kommen dem Schaedelultraschall und der Doppelsonographie als leicht verfuegbaren Screening-Methoden eine zentrale Rolle zu. Die definitive Diagnose wird, je nach Verfuegbarkeit, mittels Computertomographie oder Kernspintomographie gestellt. Die Behandlung ist neben der symptomatischen (antikonvulsiven) Therapie auf die Vermeidung von ischaemischen Sekundaerschaeden gerichtet. Diskussion: Wir wollen mit der vorliegenden Arbeit anhand von 3 Kindern mit verschiedenen klinischen Verlaeufen eines sog. Neonatal stroke den Stellenwert der bildgebenden Verfahren bei der Diagnostik und Verlaufskontrolle aufzeigen und die Sensibilitaet fuer dieses vermutlich unterdiagnostizierte Krankheitsbild erhoehen

  1. Epidemiology of early neonatal mortality.

    Science.gov (United States)

    Tyagi, N K; Bharambe, M S; Garg, B S; Mathur, J S; Goswami, K

    1994-01-01

    During 1981-1991 at a rural teaching hospital (Kasturba Hospital) of Mahatma Gandhi Institute of Medical Sciences in Sevagram, Wardha, India, 454 of 13,939 newborns died during the early neonatal period for an early neonatal mortality rate (ENMR) of 33.7/1000 live births. The ENMR for boys was not significantly different from that for girls (36.1 vs. 28.6). Community medicine specialists analyzed data on these early neonatal deaths to examine distribution of early neonatal mortality, especially its relationship with prematurity, low birth weight, birth order, and by sex. They calculated average percent deaths (APD) per hour to examine the dynamics in early neonatal mortality. The mean age at death was lower among newborns of birth order greater than 2 than those of birth order less than 2 (23.47 vs. 26.85 hours; p 0.001). ENMR was higher for newborns of birth order greater than 2 than those of birth order less than 2 (41.74% vs. 27.35%; P 0.001). The mean age at death increased as gestation increased (10.34 for 28 weeks; 24.27 for 28-33 weeks, 31.53 for 33-37 weeks, and 34.43 for 37 weeks; p 0.001). ENMR decreased as gestation increased (850 for 28 weeks; 375 for 28-33 weeks, 147.02 for 33-37 weeks, and 8.77 for 37 weeks; p 0.001). The mean age at death increased as birth weight increased for newborns weighing less than 1500 gms through 2000-2500 gms (23.36-37.13 hours; p 0.001). It was lowest among those weighing more 3000 gms (11.55 gms). ENMR fell as birth weight increased (614.33 for 1500 gms, 116.19 for 1500-2000 gms, 19.38 for 2000-2500 gms, 10.99 for 2500-3000 gms, and 5.41 for 3000 gms; p 0.001). The APD/hour for the first hour of life was 3.74% for a relative risk of 12.9. It decreased steadily as the hours of life increased (3.08% for 1-6 hours, 1.19% for 6-24 hours, 0.67% for 24-72 hours, and 0.29% for 72-168 hours). Knowledge of time of likely death can help providers know where they need to focus their attention to prevent early neonatal deaths.

  2. Extracorporeal membrane oxygenation for adult respiratory failure.

    Science.gov (United States)

    Turner, David A; Cheifetz, Ira M

    2013-06-01

    Extracorporeal membrane oxygenation (ECMO) is a form of cardiopulmonary bypass that is a mainstay of therapy in neonatal and pediatric patients with life threatening respiratory and/or cardiac failure. Historically, the use of ECMO in adults has been limited, but recent reports and technological advances have increased utilization and interest in this technology in adult patients with severe respiratory failure. As ECMO is considered in this critically ill population, patient selection, indications, contraindications, comorbidities, and pre-ECMO support are all important considerations. Once the decision is made to cannulate a patient for ECMO, meticulous multi-organ-system management is required, with a priority being placed on lung rest and minimization of ventilator-induced lung injury. Close monitoring is also necessary for complications, some of which are related to ECMO and others secondary to the patient's underlying degree of illness. Despite the risks, reports demonstrate survival > 70% in some circumstances for patients requiring ECMO for refractory respiratory failure. As the utilization of ECMO in adult patients with respiratory failure continues to expand, ongoing discussion and investigation are needed to determine whether ECMO should remain a "rescue" therapy or if earlier ECMO may be beneficial as a lung-protective strategy.

  3. 45 CFR 46.205 - Research involving neonates.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Research involving neonates. 46.205 Section 46.205... SUBJECTS Additional Protections for Pregnant Women, Human Fetuses and Neonates Involved in Research § 46.205 Research involving neonates. (a) Neonates of uncertain viability and nonviable neonates may...

  4. Profound morphological changes in the erythrocytes and fibrin networks of patients with hemochromatosis or with hyperferritinemia, and their normalization by iron chelators and other agents.

    Directory of Open Access Journals (Sweden)

    Etheresia Pretorius

    Full Text Available It is well-known that individuals with increased iron levels are more prone to thrombotic diseases, mainly due to the presence of unliganded iron, and thereby the increased production of hydroxyl radicals. It is also known that erythrocytes (RBCs may play an important role during thrombotic events. Therefore the purpose of the current study was to assess whether RBCs had an altered morphology in individuals with hereditary hemochromatosis (HH, as well as some who displayed hyperferritinemia (HF. Using scanning electron microscopy, we also assessed means by which the RBC and fibrin morphology might be normalized. An important objective was to test the hypothesis that the altered RBC morphology was due to the presence of excess unliganded iron by removing it through chelation. Very striking differences were observed, in that the erythrocytes from HH and HF individuals were distorted and had a much greater axial ratio compared to that accompanying the discoid appearance seen in the normal samples. The response to thrombin, and the appearance of a platelet-rich plasma smear, were also markedly different. These differences could largely be reversed by the iron chelator desferal and to some degree by the iron chelator clioquinol, or by the free radical trapping agents salicylate or selenite (that may themselves also be iron chelators. These findings are consistent with the view that the aberrant morphology of the HH and HF erythrocytes is caused, at least in part, by unliganded ('free' iron, whether derived directly via raised ferritin levels or otherwise, and that lowering it or affecting the consequences of its action may be of therapeutic benefit. The findings also bear on the question of the extent to which accepting blood donations from HH individuals may be desirable or otherwise.

  5. Effects of hemochromatosis and transferrin gene mutations on peripheral iron dyshomeostasis in Mild Cognitive Impairment and Alzheimer’s and Parkinson’s diseases

    Directory of Open Access Journals (Sweden)

    Stefania eMariani

    2013-08-01

    Full Text Available Deregulation of iron metabolism has been observed in patients with neurodegenerative diseases. We have carried out a molecular analysis investigating the interaction between iron specific gene variants [transferrin (TF, P589S, hemochromatosis (HFE C282Y and H63D], iron biochemical variables [iron, Tf, ceruloplasmin (Cp, Cp:Tf ratio and % of Tf saturation (% Tf-sat] Impairment (MCI, 78 Parkinson’s disease (PD patients and 139 healthy controls to investigate mechanisms of iron regulation or toxicity. No difference in genetic variant distributions between patients and controls was found in our Italian sample, but the stratification for the APOE e4 allele revealed that among the APOE e4 carriers was higher the frequency of those carriers of at least a mutated TF P589S allele. Decreased Tf in both AD and MCI and increased Cp:Tf ratio in AD vs. controls were detected. A multinomial logistic regression model revealed that increased iron and Cp:Tf ratio and being man instead of woman increased the risk of having PD, that increased values of Cp:Tf ratio corresponded to a 4-fold increase of the relative risk of having MCI, while higher Cp levels were protective for PD and MCI. Our study has some limitations: the small size of the sample, one ethnic group considered, the rarity of some alleles which prevent the statistical power of some genetic analysis. Even though they need confirmation in larger cohorts, our data suggest the hypothesis that deregulation of iron metabolism, in addition to other factors, has some effect on the PD disease risk.

  6. [Understanding heart failure].

    Science.gov (United States)

    Boo, José Fernando Guadalajara

    2006-01-01

    Heart failure is a disease with several definitions. The term "heart failure" is used by has brougth about confusion in the terminology. For this reason, the value of the ejection fraction (< 0.40 or < 0.35) is used in most meganalyses on the treatment of heart failure, avoiding the term "heart failure" that is a confounding concept. In this paper we carefully analyze the meaning of contractility, ventricular function or performance, preload, afterload, heart failure, compensation mechanisms in heart failure, myocardial oxygen consumption, inadequate, adequate and inappropriate hypertrophy, systole, diastole, compliance, problems of relaxation, and diastolic dysfunction. Their definitions are supported by the original scientific descriptions in an attempt to clarify the concepts about ventricular function and heart failure and, in this way, use the same scientific language about the meaning of ventricular function, heart failure, and diastolic dysfunction.

  7. Real System Failures

    Data.gov (United States)

    National Aeronautics and Space Administration — This resource area contains descriptions of actual electronic systems failure scenarios with an emphasis on the diversity of failure modes and effects that can...

  8. Contraceptive failure in China.

    Science.gov (United States)

    Wang, Duolao

    2002-09-01

    This study examines patterns and differentials of contraceptive failure rates by method and characteristics of users, using the Chinese Two-per-Thousand Fertility Survey data. The results show that contraceptive failure rates for modern methods including sterilization are some of the highest in the world. The first year failure rates are 4.2% for male sterilization, 0.7% for female sterilization, 10.3% for IUD, 14.5% for pill, and 19.0% for condom. There are also some differentials in contraceptive failure rates by users' sociodemographic and fertility characteristics. Contraceptive failure rate declines with women's age for all reversible methods. Rural women have higher sterilization, IUD, and condom contraceptive failure rates than urban women. Women with two or more children have a higher failure rate for sterilization methods but have lower failure rates for other methods.

  9. Maternal Preeclampsia and Neonatal Outcomes

    Directory of Open Access Journals (Sweden)

    Carl H. Backes

    2011-01-01

    Full Text Available Preeclampsia is a multiorgan, heterogeneous disorder of pregnancy associated with significant maternal and neonatal morbidity and mortality. Optimal strategies in the care of the women with preeclampsia have not been fully elucidated, leaving physicians with incomplete data to guide their clinical decision making. Because preeclampsia is a progressive disorder, in some circumstances, delivery is needed to halt the progression to the benefit of the mother and fetus. However, the need for premature delivery has adverse effects on important neonatal outcomes not limited to the most premature infants. Late-preterm infants account for approximately two thirds of all preterm deliveries and are at significant risk for morbidity and mortality. Reviewed is the current literature in the diagnosis and obstetrical management of preeclampsia, the outcomes of late-preterm infants, and potential strategies to optimize fetal outcomes in pregnancies complicated by preeclampsia.

  10. EEG in the neonatal unit.

    Science.gov (United States)

    Lamblin, M D; de Villepin-Touzery, A

    2015-03-01

    The execution and interpretation of neonatal EEG adheres to strict and specific criteria related to this very early age. In preterm newborns, the dedicated healthcare staff needs to respect EEG indications and chronology of EEG recordings in order to diagnose and manage various pathologies, and use EEG in addition to cerebral imaging. EEG analysis focuses on a global vision of the recording according to the neonate's state of alertness and various age-related patterns. Monitoring of continuous conventional EEG and simplified EEG signal processing can help screen for seizures and monitor the effect of antiepileptic treatment, as well as appreciating changes in EEG background activity, for diagnostic and prognostic purposes. EEG reports should be highly explanatory to meet the expectations of the physician's clinical request.

  11. Treatment Effects on Neonatal EEG.

    Science.gov (United States)

    Obeid, Rawad; Tsuchida, Tammy N

    2016-10-01

    Conventional EEG and amplitude-integrated electroencephalography are used in neonates to assess prognosis and significant changes in brain activity. Neuroactive medications and hypothermia can influence brain activity and therefore alter EEG interpretation. There are limited studies on the effect of these therapies on neonatal EEG background activity. Medication effects on the EEG or amplitude-integrated electroencephalography include increased interburst interval duration, voltage suppression, and sleep disruption. The effect is transient in term newborns but can be persistent in premature newborns. Although therapeutic hypothermia does not produce significant changes in EEG activity, it does change the time point at which EEG can accurately predict neurodevelopmental outcome. It is important to account for these effects on the EEG to avoid inaccurate interpretation that may affect prognostication.

  12. Contralateral hemimicrencephaly in neonatal hemimegalencephaly.

    Science.gov (United States)

    Shiroishi, Mark S; Jackson, Hollie A; Nelson, Marvin D; Bluml, Stefan; Panigrahy, Ashok

    2010-11-01

    Identification of abnormalities in the contralateral hemisphere in patients with hemimegalencephaly is critical in their management. In this report, we present a 5-day-old neonate with hemimegalencephaly who demonstrated an enlarged ipsilateral cerebral hemisphere and diffuse volume loss in the contralateral hemisphere on conventional MR imaging sequences. The ipsilateral frontal white matter demonstrated relatively increased NAA, fractional anistropy, and cerebral blood volume values compared to published normative data. In addition, the white matter of the contralateral hemisphere demonstrated elevated lactate and increased mean diffusivity compared to published normative data, supporting the abnormal conventional MR findings. Advanced MR neuroimaging techniques may help further confirm and characterize abnormalities in the smaller contralateral hemisphere in neonatal hemimegalencephaly.

  13. Contralateral hemimicrencephaly in neonatal hemimegalencephaly

    Energy Technology Data Exchange (ETDEWEB)

    Shiroishi, Mark S.; Jackson, Hollie A.; Nelson, Marvin D. [Childrens Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States); Bluml, Stefan [Childrens Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States); Rudi Schulte Research Institute, Santa Barbara, CA (United States); Panigrahy, Ashok [Childrens Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States); Children' s Hospital of Pittsburgh of UPMC, Department of Pediatric Radiology, Pittsburgh, PA (United States)

    2010-11-15

    Identification of abnormalities in the contralateral hemisphere in patients with hemimegalencephaly is critical in their management. In this report, we present a 5-day-old neonate with hemimegalencephaly who demonstrated an enlarged ipsilateral cerebral hemisphere and diffuse volume loss in the contralateral hemisphere on conventional MR imaging sequences. The ipsilateral frontal white matter demonstrated relatively increased NAA, fractional anistropy, and cerebral blood volume values compared to published normative data. In addition, the white matter of the contralateral hemisphere demonstrated elevated lactate and increased mean diffusivity compared to published normative data, supporting the abnormal conventional MR findings. Advanced MR neuroimaging techniques may help further confirm and characterize abnormalities in the smaller contralateral hemisphere in neonatal hemimegalencephaly. (orig.)

  14. Neonatal pustular dermatosis: An overview

    Directory of Open Access Journals (Sweden)

    Sangita Ghosh

    2015-01-01

    Full Text Available Neonatal pustular eruption is a group of disorders characterized by various forms of pustulosis seen in first 4 weeks of life. Its presentation is often similar with some subtle differences, which can be further established by few simple laboratory aids, to arrive at a definite diagnosis. Given their ubiquitous presentation, it is sometimes difficult to differentiate among self-limiting, noninfectious, pustular dermatosis such as erythema toxicum neonatorum, transient neonatal pustular melanosis, miliaria pustulosa, etc., and potentially life threatening infections such as herpes simplex virus and varicella zoster virus infections. This review article tries to address the chronological, clinical, morphological, and histological differences among the various pustular eruptions in a newborn, in order to make it easier for a practicing dermatologist to diagnose and treat these similar looking but different entities of pustulation with a clear demarcation between the physiological benign pustular rashes and the infectious pustular lesions.

  15. Neonatal erythroderma – clinical perspectives

    Directory of Open Access Journals (Sweden)

    Boull CL

    2017-06-01

    Full Text Available Christina L Boull, Kristen P Hook Department of Dermatology, Division of Pediatric Dermatology, University of Minnesota, Minneapolis, MN, USA Abstract: Neonatal erythroderma is rare, but significant as it may be the initial manifestation of an array of infectious, metabolic, and genetic conditions, some of which are life-threatening. Initial management should focus on identifying and treating life threatening etiololgies and complications, including infection, and fluid, electrolyte, and temperature disturbances. Often, the etiology of erythroderma is difficult to quickly identify in the neonate, as there is significant clinical overlap between causative entities. Furthermore, rapid definitive diagnostic tests are lacking. Herein we provide a review of the specific clinical features and diagnostic tests, which can aid in making a correct diagnosis. Skin care for the erythrodermic infant is also discussed. We encourage subspecialist consultation when appropriate to aid in the evaluation, especially when initial testing is nondiagnostic. Keywords: psoriasis, atopic dermatitis, cutaneous candidiasis

  16. Neonatal meningitis complicating with pneumocephalus

    Directory of Open Access Journals (Sweden)

    Anita Kumari

    2014-01-01

    Full Text Available Pneumocephalus is a rare condition characterized by the presence of gas within the cranial cavity. This gas may arise either from a trauma, a tumor, a surgical, or a diagnostic procedure or occasionally from an infection. Pneumocephalus as a complication of bacterial meningitis, in absence of trauma or a procedure, is extremely rare, particularly in a newborn. A case of pneumocephalus occurring in a baby, suffering from neonatal meningitis, acquired probably through unsafe cutting and tying of the cord, is reported here. Cutting, tying, and care of the umbilical cord is of utmost importance to prevent neonatal infection as the same is a potential cause of serious anaerobic infections, besides tetanus.

  17. Use of nasal intermittent positive pressure ventilation to avoid intubation in neonates.

    Science.gov (United States)

    Manzar, Shabih; Nair, Arun K; Pai, Mangalore G; Paul, Jose; Manikoth, Prakash; Georage, Mariam; Al-Khusaiby, Saleh M

    2004-10-01

    Nasal intermittent positive pressure ventilation (NIPPV) has widely been used in neonates to prevent extubation failure and apnea. This pilot study was carried out to look at the early use of NIPPV to avoid intubation. The study was carried out over a period of 3 months from August 2003 to October 2003 at the Royal Hospital, Muscat, Sultanate of Oman. The neonates with clinical signs of moderate to severe respiratory distress were given a trial of early NIPPV based on the avoid-intubation protocol. Inclusion, exclusion and failure criteria with general procedure were made clear to all medical and nursing staff and the protocol was posted in the unit for further time to time referral. A total of 16 neonates met the inclusion criteria for early NIPPV trial. Out of these, 13 (81%) had a successful NIPPV. The mean age of entry was 0.95 hours; however, the mean duration of NIPPV was 23 hours. No NIPPV related complications were noted in the study group. We concluded that NIPPV is an appropriate mode of ventilation in neonates requiring respiratory support. The major advantage of NIPPV is the non-invasive mechanics. It is also less expensive and less labor intensive. Further randomized controlled trials with larger sample size are warranted to confirm our findings.

  18. Simultaneous occurrence of fetal and neonatal alloimmune thrombocytopenia and neonatal neutropenia due to maternal neutrophilic autoantibodies

    DEFF Research Database (Denmark)

    Taaning, Ellen; Jensen, Lise; Varming, Kim

    2012-01-01

    Foetal and neonatal alloimmune thrombocytopenia (FNAIT) and neonatal neutropenia caused by maternal autoantibodies against neutrophils are rare disorders. We describe a newborn with severe thrombocytopenia and intracerebral bleeding caused by maternal anti-HPA-3a alloantibodies and mild neutropenia...

  19. Neonatal and pediatric esophageal perforation.

    Science.gov (United States)

    Rentea, Rebecca M; St Peter, Shawn D

    2017-04-01

    Esophageal perforation (EP) is a rare complication that is often iatrogenic in origin. In contrast with adult patients in whom surgical closure of the defect is preferred, nonoperative treatment has become a common therapeutic approach for EP in neonates and children. Principles of management pediatric EP includes rapid diagnosis, appropriate hemodynamic monitoring and support, antibiotic therapy, total parenteral nutrition, control of extraluminal contamination, and restoration of luminal integrity either through time or operative approaches. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Neonatal Infrared Thermography Image Processing

    OpenAIRE

    Bayo Catalan, Lluis

    2009-01-01

    Tesina feta en col.laboració amb RWTH Aachen The temperature changes inside incubator a ect the newborns, who are the most delicate patients. The project proposes an innovative method to monitor the skin temperature of the neonates. The temperature monitoring is carried out by a virtual sensor. This virtual sensor is based in an infrared thermal camera that is placed outside the incubator. In order to obtain the infrared radiation through the incubator Plexiglas, an infrared tr...

  1. Myasis occuring in a neonate

    Science.gov (United States)

    Obasa, Temitope O.; Sowunmi, Funmilola Olusola

    2012-01-01

    Myasis is the infestation of skin by larvae or maggots of a variety of flies. It is a condition that occurs more commonly in adults who are living and/or have visited tropical countries. It rarely occurs in neonates, and even when seen, only few larvae are extracted. This case report describes myasis occurring in an 11-day-old female who had 47 larvae in her skin. PMID:23355934

  2. Myasis occuring in a neonate

    Directory of Open Access Journals (Sweden)

    Temitope O. Obasa

    2012-12-01

    Full Text Available Myasis is the infestation of skin by larvae or maggots of a variety of flies. It is a condition that occurs more commonly in adults who are living and/or have visited tropical countries. It rarely occurs in neonates, and even when seen, only few larvae are extracted. This case report describes myasis occurring in an 11-day-old female who had 47 larvae in her skin.

  3. Pain Perception in the Neonate

    OpenAIRE

    1989-01-01

    Pain expression in both pre-term and term infants is a little understood phenomenon. Recent research has generated data documenting that the newborn can feel pain, can act to avoid the pain, and may form memory traces of the experience. ”Nociceptive activity” or ”noxious stimuli” are better terms to use when addressing aversive stimulation of the neonate because they encourage scrutiny of the behavioural and physiologic responses of the newborn without placing emphasis on the emotional and su...

  4. Acute liver failure

    DEFF Research Database (Denmark)

    Larsen, Fin Stolze; Bjerring, Peter Nissen

    2011-01-01

    Acute liver failure (ALF) results in a multitude of serious complications that often lead to multi-organ failure. This brief review focuses on the pathophysiological processes in ALF and how to manage these.......Acute liver failure (ALF) results in a multitude of serious complications that often lead to multi-organ failure. This brief review focuses on the pathophysiological processes in ALF and how to manage these....

  5. RISK FACTORS IN NEONATAL ANAEROBIC INFECTIONS

    Directory of Open Access Journals (Sweden)

    M. S. Tabib

    2008-06-01

    Full Text Available Anaerobic bacteria are well known causes of sepsis in adults but there are few studies regarding their role in neonatal sepsis. In an attempt to define the incidence of neonatal anaerobic infections a prospective study was performed during one year period. A total number of 400 neonates under sepsis study were entered this investigation. Anaerobic as well as aerobic cultures were sent. The patients were subjected to comparison in two groups: anaerobic culture positive and anaerobic culture negative and this comparison were analyzed statistically. There were 7 neonates with positive anaerobic culture and 35 neonates with positive aerobic culture. A significant statistical relationship was found between anaerobic infections and abdominal distention and pneumonia. It is recommended for those neonates with abdominal distention and pneumonia refractory to antibiotic treatment to be started on antibiotics with anaerobic coverage.

  6. Early-Onset Neonatal Sepsis

    Science.gov (United States)

    Simonsen, Kari A.; Anderson-Berry, Ann L.; Delair, Shirley F.

    2014-01-01

    SUMMARY Early-onset sepsis remains a common and serious problem for neonates, especially preterm infants. Group B streptococcus (GBS) is the most common etiologic agent, while Escherichia coli is the most common cause of mortality. Current efforts toward maternal intrapartum antimicrobial prophylaxis have significantly reduced the rates of GBS disease but have been associated with increased rates of Gram-negative infections, especially among very-low-birth-weight infants. The diagnosis of neonatal sepsis is based on a combination of clinical presentation; the use of nonspecific markers, including C-reactive protein and procalcitonin (where available); blood cultures; and the use of molecular methods, including PCR. Cytokines, including interleukin 6 (IL-6), interleukin 8 (IL-8), gamma interferon (IFN-γ), and tumor necrosis factor alpha (TNF-α), and cell surface antigens, including soluble intercellular adhesion molecule (sICAM) and CD64, are also being increasingly examined for use as nonspecific screening measures for neonatal sepsis. Viruses, in particular enteroviruses, parechoviruses, and herpes simplex virus (HSV), should be considered in the differential diagnosis. Empirical treatment should be based on local patterns of antimicrobial resistance but typically consists of the use of ampicillin and gentamicin, or ampicillin and cefotaxime if meningitis is suspected, until the etiologic agent has been identified. Current research is focused primarily on development of vaccines against GBS. PMID:24396135

  7. Neonatal asphyxia and forensic medicine.

    Science.gov (United States)

    d'Aloja, E; Müller, M; Paribello, F; Demontis, R; Faa, A

    2009-01-01

    In the last decades, the scientific literature addressing neonatal encephalopathy has grown in a logarithmic way and malpractice claims in obstetrics and neonatology have become a major threat to the health service. At the moment, scientific evidence are insufficient to clearly identify in each single case whether the hypoxic insult has developed in the course of labor or in the first few hours after the birth or, otherwise, whether the damage has to recognize a remote and long-lasting cause acting during pregnancy. Several authors feel that this scientific uncertainty leads to a higher percentage of civil suit decisions prone to recognizing a guilty medical behavior, and they wish a more in-depth analysis of all these cases to clearly identify all the data either in favor or in contrary to the assumption of the existence of a causal correlation between neonatal encephalopathy and medical misbehavior. This article will focus on the medico-legal approach to a hypoxic-ischemic event in the perinatal period, addressing the relevant data to be collected in order to establish the medical and juridical cause of the neonatal damage.

  8. Which biomarkers reveal neonatal sepsis?

    Directory of Open Access Journals (Sweden)

    Kun Wang

    Full Text Available We address the identification of optimal biomarkers for the rapid diagnosis of neonatal sepsis. We employ both canonical correlation analysis (CCA and sparse support vector machine (SSVM classifiers to select the best subset of biomarkers from a large hematological data set collected from infants with suspected sepsis from Yale-New Haven Hospital's Neonatal Intensive Care Unit (NICU. CCA is used to select sets of biomarkers of increasing size that are most highly correlated with infection. The effectiveness of these biomarkers is then validated by constructing a sparse support vector machine diagnostic classifier. We find that the following set of five biomarkers capture the essential diagnostic information (in order of importance: Bands, Platelets, neutrophil CD64, White Blood Cells, and Segs. Further, the diagnostic performance of the optimal set of biomarkers is significantly higher than that of isolated individual biomarkers. These results suggest an enhanced sepsis scoring system for neonatal sepsis that includes these five biomarkers. We demonstrate the robustness of our analysis by comparing CCA with the Forward Selection method and SSVM with LASSO Logistic Regression.

  9. Ileal atresia and multiple jejunal perforations in a premature neonate with gestational alloimmune liver disease

    Directory of Open Access Journals (Sweden)

    Ryan M. McAdams, MD

    2017-04-01

    Full Text Available Recovery after surgical repair of an ileal atresia with or without intestinal perforation requires prolonged exposure to parenteral nutrition (PN that may lead to PN-associated liver disease. Early liver failure and cholestasis out of proportion for PN exposure may be a harbinger for gestational alloimmune liver disease (GALD, a potentially life-threatening condition that often requires liver transplant if not treated in a timely manner. This case report presents a premature neonate with ileal atresia and multiple jejunal perforations who developed liver failure and was later determined to have GALD. Recognition of clinical and laboratory findings consistent with GALD is essential to promote early treatment, which can enhance neonatal outcomes and impact future pregnancies.

  10. Comparison between late-presenting and isolated neonatal congenital diaphragmatic hernias

    Directory of Open Access Journals (Sweden)

    Christos Plataras

    2011-01-01

    Full Text Available Purpose: Late-presenting posterolateral congenital diaphragmatic hernias (CDH are anatomically similar to isolated neonatal CDH but are diagnosed and treated after the first month of life. We aim to characterise the clinical manifestations and short-term postoperative course of this entity and compare it with isolated CDH of the neonatal period. Materials and Methods: In the 30-year period from 1980 to 2010, 116 children with CDH were treated at the Aghia Sophia Children′s Hospital, Athens, Greece. Twenty-three (19% of these children were late-presenting cases, being diagnosed between the ages of 1 month and 4 years. Ninety-three were neonatal cases, of whom 22 (24% were excluded due to severe associated anomalies, leaving 71 cases of isolated neonatal CDH. We compared these two groups of patients with regard to preoperative symptoms, postoperative hospital stay, time to complete feeding, overall complication rate, and reoperation rate. Results: Isolated neonatal cases presented more often with acute respiratory symptoms (n=25; P= 0.016 and failure to thrive (n= 38; P= 0.03. Late-presenting cases presented more often with chronic respiratory symptoms (n=14;P= 0.0044 or gastrointestinal symptoms (n=12; P= 0.006. Thirty-five cases with minor or serious complications were reported in the neonatal group, whereas only five complications were observed in the late-presenting group (P= 0.028. We did not record any recurrences or reoperations in the late-presenting group, but we had two recurrences and three reoperations in the neonatal group. Time to full feeds and postoperative hospital stay was shorter in the late-presenting group. Conclusions: Our data demonstrate differences between the two groups in preoperative symptoms and short-term postoperative complications and short-term outcome. Late-presenting cases of CDH had a greater number of chronic symptoms preoperatively, more favorable postoperative outcomes, and less recurrences and reoperations.

  11. In Support of Failure

    Science.gov (United States)

    Carr, Allison

    2013-01-01

    In this essay, I propose a concerted effort to begin devising a theory and pedagogy of failure. I review the discourse of failure in Western culture as well as in composition pedagogy, ultimately suggesting that failure is not simply a judgement or indication of rank but is a relational, affect-bearing concept with tremendous relevance to…

  12. Severe anemia and hydrops in a neonate with parvovirus B19 infection: a case report

    Directory of Open Access Journals (Sweden)

    Negar Sajjadian

    2013-12-01

    Full Text Available Background: Anemia at the time of birth may cause some problem like asphyxia, heart failure shock or even death in a neonate. Different etiologies can be considered for this problem. Parvovirus B19, as a viral organism, can cause hydrops fetalis and neonatal anemia and consequent complications. We present here a case of newborn infant with severe anemia who had human parvovirus B19 infection.Case Presentation: A male newborn with gestational age of 36 week was born from a mother with poor prenatal care and history of contact with domestic animal. The neonate was very pale with Apgar score 2 at 1 min and received resuscitation, mechanical ventilation and repeated blood transfusion The hemoglobin level was significantly low. Analysis was made based on the clinical presentations. According to the case history, physical and laboratory findings, neonatal severe anemia induced by parvovirus B19 infection was suggested and Laboratory work up documented his infection with parovirus B19.Conclusion: Parvovirus B19 (B19 virus is the smallest single strand linear DNA virus in animal viruses, which is the only strain of parvovirus that is pathogenic in humans. Human parvovirus B19 may cross the placenta and result in fetal infection, morbidity and death. Parvovirus is an uncommon cause of neonatal anemia and hydrops fetalis so this etiology must be considered in differential diagnosis of anemia at birth.

  13. Challenges and Frugal Remedies for Lowering Facility Based Neonatal Mortality and Morbidity: A Comparative Study

    Science.gov (United States)

    Amadi, Hippolite O.; Osibogun, Akin O.; Eyinade, Olateju; Kawuwa, Mohammed B.; Uwakwem, Angela C.; Ibekwe, Maryann U.; Alabi, Peter; Ezeaka, Chinyere; Eleshin, Dada G.; Ibadin, Mike O.

    2014-01-01

    Millennium development goal target on infant mortality (MDG4) by 2015 would not be realised in some low-resource countries. This was in part due to unsustainable high-tech ideas that have been poorly executed. Prudent but high impact techniques could have been synthesised in these countries. A collaborative outreach was initiated to devise frugal measures that could reduce neonatal deaths in Nigeria. Prevailing issues of concern that could militate against neonatal survival within care centres were identified and remedies were proffered. These included application of (i) recycled incubator technology (RIT) as a measure of providing affordable incubator sufficiency, (ii) facility-based research groups, (iii) elective training courses for clinicians/nurses, (iv) independent local artisans on spare parts production, (v) power-banking and apnoea-monitoring schemes, and (v) 1/2 yearly failure-preventive maintenance and auditing system. Through a retrospective data analyses 4 outreach centres and one “control” were assessed. Average neonatal mortality of centres reduced from 254/1000 to 114/1000 whilst control remained at 250/1000. There was higher relative influx of incubator-dependent-neonates at outreach centres. It was found that 43% of mortality occurred within 48 hours of presentation (d48) and up to 92% of d48 were of very-low birth parameters. The RIT and associated concerns remedies have demonstrated the vital signs of efficiency that would have guaranteed MDG4 neonatal component in Nigeria. PMID:25140183

  14. Challenges and Frugal Remedies for Lowering Facility Based Neonatal Mortality and Morbidity: A Comparative Study

    Directory of Open Access Journals (Sweden)

    Hippolite O. Amadi

    2014-01-01

    Full Text Available Millennium development goal target on infant mortality (MDG4 by 2015 would not be realised in some low-resource countries. This was in part due to unsustainable high-tech ideas that have been poorly executed. Prudent but high impact techniques could have been synthesised in these countries. A collaborative outreach was initiated to devise frugal measures that could reduce neonatal deaths in Nigeria. Prevailing issues of concern that could militate against neonatal survival within care centres were identified and remedies were proffered. These included application of (i recycled incubator technology (RIT as a measure of providing affordable incubator sufficiency, (ii facility-based research groups, (iii elective training courses for clinicians/nurses, (iv independent local artisans on spare parts production, (v power-banking and apnoea-monitoring schemes, and (v 1/2 yearly failure-preventive maintenance and auditing system. Through a retrospective data analyses 4 outreach centres and one “control” were assessed. Average neonatal mortality of centres reduced from 254/1000 to 114/1000 whilst control remained at 250/1000. There was higher relative influx of incubator-dependent-neonates at outreach centres. It was found that 43% of mortality occurred within 48 hours of presentation (d48 and up to 92% of d48 were of very-low birth parameters. The RIT and associated concerns remedies have demonstrated the vital signs of efficiency that would have guaranteed MDG4 neonatal component in Nigeria.

  15. Causes of neonatal and maternal deaths in Dhaka slums: Implications for service delivery

    Directory of Open Access Journals (Sweden)

    Khatun Fatema

    2012-01-01

    Full Text Available Abstract Background Bangladesh has about 5.7 million people living in urban slums that are characterized by adverse living conditions, poor access to healthcare services and health outcomes. In an attempt to ensure safe maternal, neonatal and child health services in the slums BRAC started a programme, MANOSHI, in 2007. This paper reports the causes of maternal and neonatal deaths in slums and discusses the implications of those deaths for Maternal Neonatal and Child Health service delivery. Methods Slums in three areas of Dhaka city were selected purposively. Data on causes of deaths were collected during 2008-2009 using verbal autopsy form. Two trained physicians independently assigned the cause of deaths. Results A total of 260 newborn and 38 maternal deaths were identified between 2008 and 2009. The majority (75% of neonatal deaths occurred during 0-7 days. The main causes of deaths were birth asphyxia (42%, sepsis (20% and birth trauma (7%. Post partum hemorrhage (37% and eclampsia (16% were the major direct causes and hepatic failure due to viral hepatitis was the most prevalent indirect cause (11% of maternal deaths. Conclusion Delivery at a health facility with child assessment within a day of delivery and appropriate treatment could reduce neonatal deaths. Maternal mortality is unlikely to reduce without delivering at facilities with basic Emergency Obstetric Care (EOC and arrangements for timely referral to EOC. There is a need for a comprehensive package of services that includes control of infectious diseases during pregnancy, EOC and adequate after delivery care.

  16. Managing common neonatal respiratory conditions during transport.

    Science.gov (United States)

    Coe, Kristi L; Jamie, Scott F; Baskerville, Rosland M

    2014-10-01

    As neonatal care in the tertiary setting advances, neonatal transport teams are challenged with incorporating these innovations into their work environment. One of the largest areas of advancement over the last decade involves respiratory support and management. Many major respiratory treatments and the equipment required have been adapted for transport, whereas others are not yet feasible. This article reviews the history of respiratory management during neonatal transport and discusses current methodologies and innovations in transport respiratory management.

  17. Ethical issues in neonatal intensive care

    OpenAIRE

    Marcello M. Orzalesi; Marina Cuttini

    2011-01-01

    Recent progress in neonatal care have significantly improved the prognosis and chances of survival of critically ill or extremely preterm neonates and have modified the limits of viability. However, in some circumstances, when the child's death can only be briefly postponed at the price of severe suffering, or when survival is associated with severe disabilities and an intolerable life for the child and his/her parents, the application of the full armamentarium of modern neonatal intensive ca...

  18. Swiss cheese ventricular septal defect with myocarditis - A rare coexistence in a neonate

    Directory of Open Access Journals (Sweden)

    A R Saboo

    2012-01-01

    Full Text Available Myocarditis is defined as acute inflammation of the myocardium, usually following a non-specific flu-like illness, and encompasses a wide range of clinical presentations ranging from mild or subclinical disease to heart failure. We report a 12-day-old healthy full-term neonate who presented with abrupt onset of congestive cardiac failure (CCF following a viral prodrome. Examination revealed persistent sinus tachycardia, lymphocytosis, gross cardiomegaly, nonspecific electrocardiogram changes with echocardiography showing Swiss cheese ventricular septal defect (VSD. VSD alone very rarely presents as early-onset cardiac failure in the absence of other precipitating factors like anemia, sepsis, hypoglycemia etc. Myocarditis, however, can mimic VSD and can present as fulminant cardiac failure in an otherwise healthy newborn. Myocarditis is usually diagnosed based on circumstantial evidence such as a recent viral infection and the sudden onset of cardiac dysfunction while ruling out other diagnostic possibilities. Elevated troponin T level is one of the most crucial noninvasive diagnostic modalities. Several trials have concluded that levels >0.055 ng/ml are statistically significant for diagnosing myocarditis in children. In our case an abrupt onset of cardiac failure following a viral prodrome and markedly elevated cardiac troponin T without sepsis and in the presence of normal coronary anatomy clinched the diagnosis of myocarditis. An early and aggressive treatment for CCF along with regular long-term follow-up plays a key role in the management of myocarditis. Role of high-dose Intravenous immunoglobulin in myocarditis has been studied by many trials with different outcomes. This is the first case report showing coexistence of VSD with myocarditis in a neonate presenting as early-onset acute cardiac failure. The report highlights the importance of screening for myocarditis in all previously normal babies presenting primarily with cardiogenic

  19. Morphine pharmacokinetics during venoarterial extracorporeal membrane oxygenation in neonates

    NARCIS (Netherlands)

    Peters, JWB; Anderson, BJ; Simons, SHP; Uges, DRA; Tibboel, D

    2005-01-01

    Objective: To study morphine pharmacokinetics in neonates undergoing venoarterial ECMO and to quantify differences between these neonates and neonates subjected to noncardiac major surgery. Design and Settings: Observational study in a level III referral center. Patients and methods: Pharmacokinetic

  20. Risk factors for neonatal jaundice in babies presenting at the ...

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-03-13

    Mar 13, 2012 ... bilirubin. Neonatal jaundice is a leading cause of neonatal admis- sions in the first week of life ... sclera and mucous membranes resulting from deposition ... taken to determine the prevalent risk factors for neonatal jaundice at ...

  1. Clinical pharmacokinetics of antibacterial drugs in neonates.

    Science.gov (United States)

    Paap, C M; Nahata, M C

    1990-10-01

    Neonatal patients are surviving longer due to the rapid advances in medical knowledge and technology. Our understanding of the developmental physiology of both preterm and full term neonates has also increased. It is now apparent that differences in body composition and organ function significantly affect the pharmacokinetics of antibacterial drugs in neonates, and dosage modifications are required to optimise antimicrobial therapy. The penicillins and cephalosporins are frequently used in neonates. Although ampicillin has replaced benzylpenicillin (penicillin G) for empirical treatment of neonatal sepsis, many of the other penicillins may be used in neonates for the management of various infections. Increased volume of distribution (Vd) and decreased total body clearance (CL) affect the disposition of penicillins and cephalosporins. Decreased renal clearance (CLR) due to decreased glomerular filtration and tubular secretion is responsible for the decreased CL for most of the beta-lactams. Aminoglycoside Vd is affected by the increased total body water content and extracellular fluid volume of neonates. The increased Vd, in part, accounts for the extended elimination half-life (t1/2) observed in neonates. Aminoglycoside CL is dependent on renal glomerular filtration which is markedly decreased in neonates, especially those preterm. These drugs appear to be less nephrotoxic and ototoxic in neonates than in older patients, and the role of serum concentration monitoring should be limited to specific neonatal patients. Other antibiotics such as vancomycin, teicoplanin, chloramphenicol, rifampicin, erythromycin, clindamycin, metronidazole and cotrimoxazole (trimethoprim plus sulfamethoxazole) may be used in certain clinical situations. The emergence of staphylococcal resistance to penicillins has increased the need for vancomycin. With the exceptions of vancomycin and chloramphenicol, the efficacy and safety of these other agents in neonates have not been established

  2. New-Onset Neonatal Pulmonary Hypertension Associated with a Rhinovirus Infection

    Directory of Open Access Journals (Sweden)

    Nishit Patel

    2012-01-01

    Full Text Available A 3.5-week-old male neonate who developed an upper and lower respiratory tract rhinovirus infection that was temporally associated with the development of severe pulmonary hypertension is described. Rhinovirus has not previously been associated with pulmonary hypertension. This child developed severe pulmonary hypertension with right ventricular failure, requiring mechanical ventilation, nitric oxide inhalation and, eventually, extracorporeal membrane oxygenation.

  3. 磁共振成像在肝血色素沉着症诊断中的应用价值%Application value of MRI in the diagnosis of liver hemochromatosis

    Institute of Scientific and Technical Information of China (English)

    余水莲; 马隆佰; 刘颖

    2014-01-01

    目的:分析肝血色素沉着症磁共振( MR) T2加权图像( T2 WI)及梯度双回波T1加权图像( T1 WI)的影像表现,评价MRI在肝血色素沉着症中的应用价值。方法回顾性分析确诊27例肝血色素沉着症患者MR图像,观察其T2 WI及梯度双回波T1 WI的肝脏信号改变。结果所有病例T2 WI均表现为肝脏实质信号不同程度减低,接近或低于同层面竖脊肌,肝脏在梯度双回波T1 WI同反相位均见信号减低,同相位图像上信号减低更明显,因此反相位信号高于同相位为其特异性征象,其中9例合并脾脏信号减低,脾脏信号反相位高于同相位。结论 T2 WI结合梯度双回波T1 WI对诊断肝血色素沉着症具有较高敏感性和特异性,MRI检查对肝血色素沉着症早期诊断和监测治疗具有重要临床价值。%Objective To analyze the manifestations of MR T2 WI and dual echo T1 WI in liver hemochroma-tosis, and evaluate the value of MRI in the diagnosis of live hemochromatosis.Methods The MRI of 27 confirmed patients with liver hemochromatosis were retrospectively analyzed, the liver signal intensity on T2 WI and dual echo T1 WI were observed.Results All 27 patients′T2 WI showed liver signal intensity reduced in a certain extent, closed to or lower than the sacrospinal muscle signal intensity on the same slice.Dual-echo T1 WI also showed the liver sig-nal intensity reduced in both in-phase and opposed-phase images, however on the in-phase images the signal intensi-ty′s loss was more obvious than the opposed-phase images.The liver signal intensity was higher on the opposed-phase images than the in-phase images.Nine patients showed signal intensity reduced in spleen, and also display higher sig-nal intensity on opposed-phase images.Conclusion T2 WI combined with dual echo T1 WI have high degree of sensi-tivity and specificity for the diagnosis of hemochromatosis.MRI has very important clinical value for early

  4. Bone Marrow Failure Secondary to Cytokinesis Failure

    Science.gov (United States)

    2015-12-01

    have assessed the role of FA pathway in mitosis and confirmed that murine FA-deficient hematopoietic stem cells exhibit p53- mediated growth defects...results suggest that bone marrow failure in FA may be caused, in part, by p53- mediated cellular defects and underscore the importance of... mediated apoptosis of HSCs due to cytokinesis failure. The major goal of the project was to assess whether the p53- mediated apoptosis due to

  5. Acute kidney injury in asphyxiated neonates

    Directory of Open Access Journals (Sweden)

    Roy Amardiyanto

    2013-07-01

    Full Text Available Background Asphyxia neonatorum may result in multiorgan dysfunction including renal involvement. There is no consensus on the determination of acute kidney injury (AKI in neonates making establishment of the diagnosis and its management becomes difficult. The Acute Kidney Injury Network (AKIN recommends AKI criteria based on increased serum creatinine level and reduced urine output. Objectives To identify the prevalence of AKI in asphyxiated neonates using the AKIN criteria, to compare the difference of AKI stages, and the glomerular filtration rates (GFR between moderate and severe asphyxia. Methods This was a cross-sectional analytical study conducted between July 2012 and January 2013. Subjects were all asphyxiated neonates (Apgar score 35 weeks delivered and hospitalized in Cipto Mangunkusumo Hospital and Koja District Hospital, Jakarta, Indonesia. Glomerular filtration rate was calculated using the components of urine creatinine, serum creatinine, and urine output; while AKI stages were determined according to AKIN criteria. Urinary output was measured via urethral catheterization. Results Of 94 subjects, there were 70 neonates with moderate and 24 neonates with severe asphyxia, with the prevalence of AKI was 63%. Twenty one out of 24 neonates with severe asphyxia experienced AKI, while neonates with moderate asphyxia who experienced AKI was 38 out of 70 subjects (54%. Two third of neonates with severe asphyxia who experienced AKI had stage 3 of AKI. More severe AKI stages and lower median GFR were found in neonates with severe compared to moderate asphyxia (P<0.001. Conclusion The prevalence of AKI in neonatal asphyxia is high (63%. The more severe degree of neonatal asphyxia, the more severe AKI stage and the lower median GFR. [Paediatr Indones. 2013;53:232-8.].

  6. Managing Feelings about Heart Failure

    Science.gov (United States)

    ... About Heart Failure Module 6: Managing Feelings About Heart Failure Download Module Order Hardcopy Heart failure can cause ... professional help for emotional problems. Common Feelings About Heart Failure It is common for people to feel depressed ...

  7. Etiologies of Prolonged Unconjugated Hyperbilirubinemia in Neonates Admitted to Neonatal Wards

    Directory of Open Access Journals (Sweden)

    Mohammad Kazem Sabzehei

    2015-12-01

    Full Text Available Background: Jaundice is a common condition among neonates. Prolonged unconjugated hyperbilirubinemia occurs when jaundice persists beyond two weeks in term neonates and three weeks in preterm neonates. This study aimed to determine the etiologies of prolonged unconjugated hyperbilirubinemia in infants admitted to the neonatal ward of Besat Hospital in Hamadan, Iran. Methods: This study was conducted on all infants diagnosed with prolonged unconjugated hyperbilirubinemia during 2007-2012 in the neonatal ward of Besat Hospital in Hamadan, Iran. Demographic characteristics of infants, physical examination and laboratory findings were collected and analyzed to determine the etiologies of neonatal hyperbilirubinemia. Results: In total, 100 infants diagnosed with neonatal hyperbilirubinemia were enrolled in this study, including 49 male and 51 female neonates with mean age of 20±1 days and mean bilirubin level of 17.5±4.0 mg/dL. Main causes of hyperbilirubinemia were urinary tract infection, ABO incompatibility, hypothyroidism and glucose-6-phosphate dehydrogenase deficiency in 14%, 5%, 6% and 5% of neonates, respectively. Moreover, unknown etiologies, such as breastfeeding, were detected in 70% of the studied infants. Conclusion: According to the results of this study, determining the main causes of prolonged unconjugated hyperbilirubinemia in neonates is of paramount importance. In the majority of cases, neonatal hyperbilirubinemia is associated with physiological factors, such as breastfeeding.

  8. Sepsis neonatal por Estreptococos Pyogenes

    Directory of Open Access Journals (Sweden)

    Gilberto Rodríguez-Herrera

    2009-09-01

    Full Text Available Se presenta el caso de un paciente masculino, recién nacido a término adecuado para la edad gestacional, quien nace por parto vaginal, con el antecedente de fiebre en la madre durante el periodo de postparto inmediato. Los padres consultan a los 2 días de vida pues le notan dificultad respiratoria, hipoactividad y rechazo a la leche materna. El paciente se interna y se aborda como una sepsis. Durante su estancia en el servicio de neonatología del Hospital Nacional de Niños asocia fallo respiratorio que amerita ventilación mecánica asistida por varios días en diferentes ocasiones, derrame pleural exudativo, convulsiones de origen hipóxico isquémico. Con reporte de hemocultivos positivos por Estreptococos pyogenes. El Estreptococos pyogenes o estreptococo β-hemolνtico del grupo A, fue un problema en los comienzos del siglo pasado, siendo frecuente en las infecciones puerperales y del reciιn nacido. En la actualidad es un germen sumamente raro en los procesos de sepsis neonatal.2 La gravedad de la enfermedad causada por este microorganismo en el periodo neonatal varνa desde una onfalitis crónica de bajo grado a una septicemia, una meningitis fulminante y la muerte.1 El presente artículo pretende hacer un resumen del paciente, con su evolución clínica, radiológica y además ejemplificar todas las complicaciones que tuvimos con este germen tan poco frecuente en la actualidad en sepsis neonatal.

  9. Stable rates of neonatal sepsis in a tertiary neonatal unit.

    Science.gov (United States)

    Lean, Wei Ling; Kamlin, Camille O; Garland, Suzanne M; Jacobs, Susan E

    2015-03-01

    To describe the rate of early- and late-onset sepsis in neonates admitted to the neonatal intensive care unit at the Royal Women's Hospital and to compare the rate of late-onset sepsis (LOS) with a published (2008) cohort from the same unit. The secondary aim was to examine clinicians' compliance with antibiotic guidelines. Infants born sepsis and compliance with antibiotic guidelines were applied. One hundred and seventy-two infants met the inclusion criteria, with 152 having blood culture evaluations for early-onset sepsis (EOS) and 58 having 109 evaluations for LOS. Definite EOS occurred in 1.3% with Escherichia coli isolated. The rate of definite LOS in 2011 of 22% was not significantly different than the 27% in 2008, with coagulase-negative staphylococcus the main isolate. Antibiotic continuation beyond 72 h in infants with negative blood cultures was the main reason for non-compliance with antibiotic guidelines. The rate of EOS is comparable with published reports and the rate of LOS has remained stable over a 3-year period. Discontinuation of antibiotics with negative septic markers and blood cultures at 48-72 h is encouraged. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  10. Teamwork in the Neonatal Intensive Care Unit

    Science.gov (United States)

    Barbosa, Vanessa Maziero

    2013-01-01

    Medical and technological advances in neonatology have prompted the initiation and expansion of developmentally supportive services for newborns and have incorporated rehabilitation professionals into the neonatal intensive care unit (NICU) multidisciplinary team. Availability of therapists specialized in the care of neonates, the roles of…

  11. Rural Hospital Preparedness for Neonatal Resuscitation

    Science.gov (United States)

    Jukkala, Angela; Henly, Susan J.; Lindeke, Linda

    2008-01-01

    Context: Neonatal resuscitation is a critical component of perinatal services in all settings. Purpose: To systematically describe preparedness of rural hospitals for neonatal resuscitation, and to determine whether delivery volume and level of perinatal care were associated with overall preparedness or its indicators. Methods: We developed the…

  12. Neonatal maxillary orthopedics: past to present

    NARCIS (Netherlands)

    Kuijpers-Jagtman, A.M.; Prahl, C.; Berkowitz, S.

    2013-01-01

    Neonatal maxillary orthopedics was introduced in the treatment protocol for cleft lip and palate in the 1950s of the last century. A wide range of appliances has been designed with pin-retained active appliances at one end of the spectrum and passive appliances at the other. Although neonatal

  13. Rural Hospital Preparedness for Neonatal Resuscitation

    Science.gov (United States)

    Jukkala, Angela; Henly, Susan J.; Lindeke, Linda

    2008-01-01

    Context: Neonatal resuscitation is a critical component of perinatal services in all settings. Purpose: To systematically describe preparedness of rural hospitals for neonatal resuscitation, and to determine whether delivery volume and level of perinatal care were associated with overall preparedness or its indicators. Methods: We developed the…

  14. Neonatal ventriculomegaly: diagnostic and prognostic implications

    NARCIS (Netherlands)

    Brouwer, M.J.

    2015-01-01

    Enlargement of the cerebral ventricles is a relatively common phenomenon especially in extremely premature neonates, born below 28 weeks gestational age. In developed countries, the two main entities underlying neonatal ventricular enlargement – apart from congenital malformations – are, first, pres

  15. Neonate with Mycoplasma hominis meningoencephalitis given moxifloxacin

    NARCIS (Netherlands)

    Wildenbeest, Joanne G; Said, Ines; Jaeger, Bregje; van Hest, Reinier M; van de Beek, Diederik; Pajkrt, Dasja

    Mycoplasma hominis is a commensal organism in the genitourinary tract that can cause life-threatening CNS infections in neonates after intrauterine infection or through vertical transmission during birth. We present a case of an 11-day-old neonate presenting with fever and supporting laboratory

  16. Sebaceous hyperplasia in neonates and adults

    Directory of Open Access Journals (Sweden)

    Piotr Brzezinski

    2015-01-01

    Full Text Available Sebaceous hyperplasia is a common benign proliferation of the sebaceous glands seen during the first weeks of life and in middle-aged and elderly people. Clinical picture is quite different in neonatal period compared to adulthood. In neonate the lesions are small, tiny yellow papules distributed on the nose [1].

  17. Neonatal tetanus mortality in coastal Kenya

    DEFF Research Database (Denmark)

    Bjerregaard, P; Steinglass, R; Mutie, D M

    1993-01-01

    livebirths. The neonatal and NNT mortality rates were higher in boys than in girls. Neonatal tetanus was not associated with mother's age, parity, or history of previous child death. The majority of the children (72%) were adequately protected at birth against NNT; in those with documented protection NNT...

  18. Neonatal maxillary orthopedics: past to present

    NARCIS (Netherlands)

    Kuijpers-Jagtman, A.M.; Prahl, C.; Berkowitz, S.

    2013-01-01

    Neonatal maxillary orthopedics was introduced in the treatment protocol for cleft lip and palate in the 1950s of the last century. A wide range of appliances has been designed with pin-retained active appliances at one end of the spectrum and passive appliances at the other. Although neonatal maxill

  19. Neonatal Herpes Simplex Virus Infection.

    Science.gov (United States)

    James, Scott H; Kimberlin, David W

    2015-09-01

    Herpes simplex virus (HSV) 1 and HSV-2 infections are highly prevalent worldwide and are characterized by establishing lifelong infection with periods of latency interspersed with periodic episodes of reactivation. Acquisition of HSV by an infant during the peripartum or postpartum period results in neonatal HSV disease, a rare but significant infection that can be associated with severe morbidity and mortality, especially if there is dissemination or central nervous system involvement. Diagnostic and therapeutic advances have led to improvements in mortality and, to a lesser extent, neurodevelopmental outcomes, but room exists for further improvement. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Neonatal disorders of germinal matrix.

    Science.gov (United States)

    Raets, M M A; Dudink, J; Govaert, P

    2015-11-01

    The germinal matrix (GM) is a richly vascularized, transient layer near the ventricles. It produces neurons and glial cells, and is present in the foetal brain between 8 and 36 weeks of gestation. At 25 weeks, it reaches its maximum volume and subsequently withers. The GM is vulnerable to haemorrhage in preterm infants. This selective vulnerability is explained by limited astrocyte end-feet coverage of microvessels, reduced expression of fibronectin and immature tight junctions. Focal lesions in the neonatal period include haemorrhage, germinolysis and stroke. Such lesions in transient layers interrupt normal brain maturation and induce neurodevelopmental sequelae.