Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From July, 1974 to February, 1978, we managed 12 infants with listeriosis. This infection presented in two distinct forms: an early-onset type (nine patients), often representing a congenital infection following maternal illness, and a late-onset type in which the patient presented with meningitis (three patients). Of our nine infants with early-onset disease, three died, three developed permanent sequelae, and only three were normal at follow-up. Appropriate early management in the perinatal period may improve the outlook in this condition. Affected infants were often premature and had pneumonia, rash, and hepatosplenomegaly at birth. Prenatal clues to the diagnosis included maternal fever, abdominal pains, and leukocytosis with meconium staining of the preterm amniotic fluid. Examination of gastric aspirate at birth showed gram-positive coccobacilli. Antibiotic therapy should be started prenatally and continue for three weeks after birth to prevent recurrences of the late-onset type. This late-onset disease presented as meningitis after the second week of life and responded well to antibiotics. Our three patients recovered without sequelae.
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PMID:Perinatal listeriosis--a review of twelve patients. 43 5

Knowledge of the natural history of symptomatic congenital cytomegalovirus (CMV) infection in the newborn is essential in order to anticipate complications and assess the potential benefit from antiviral therapy. To define the disease course we reviewed data on 106 neonates with symptomatic congenital CMV infection diagnosed and managed by the investigators. Petechiae, jaundice and hepatosplenomegaly were each noted in 70% or more patients. Microcephaly was noted in 54 of 102 (53%) at birth. Elevated alanine aminotransferase, conjugated hyperbilirubinemia and thrombocytopenia were seen in 83, 81 and 77%, respectively. Eighty-six percent had at least two of the manifestations highly suggestive of congenital infection. Platelet count fell to its nadir during the second week of life whereas elevated alanine aminotransferase and direct bilirubin persisted past the first month. In spite of the difficulty in assessing central nervous system function in the newborn, evidence of damage was present in the majority. Seventy-two had microcephaly, poor suck, lethargy/hypotonia or seizures. Abnormal computerized tomographic scan was present in 16 of 20 (80%) and decreased hearing in 20 of 39 (56%). Cerebrospinal fluid protein was greater than 120 mg/dl in 24 of 52 (46%) and this elevation was associated with neurologic abnormalities as well as hearing loss. The mean length of hospital stay was 13 and 22.4 days for term and preterm infants, relatively. Thirteen infants (12%) died during the first 6 weeks of life. Disseminated CMV infection with multiorgan involvement was evident in 7 of 9 at postmortem examination. We conclude that neonates with symptomatic congenital CMV infection have a multi-system disease with significant morbidity and mortality.
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PMID:Symptomatic congenital cytomegalovirus infection: neonatal morbidity and mortality. 131 Oct 66

The causes of all perinatal deaths at Mpilo Maternity Hospital were investigated over a 12-month period, during which there were a total of 466 stillbirths and 379 neonatal deaths, with a perinatal mortality rate of 36.0/1000 births in Bulawayo, Zimbabwe. The causes of death were in order of importance; congenital syphilis (20.5 pc), birth asphyxia (18.8 pc), unexplained stillbirths (11.8 pc), hyaline membrane disease (11.5 pc) neonatal septicaemia (10.8 pc), congenital malformations (7.7 pc), pregnancy induced hypertension (5.4 pc), placental abruption (4.9 pc), congenital infection (2.2 pc) and other causes (6.4 pc). Eleven pc of mothers booking in antenatal clinics had positive syphilis serology. Most were successfully treated. But over 400 mothers with early syphilis escaped treatment usually because they booked late or failed to book at all at antenatal clinics (74 pc) and occasionally because they had false negative results or were infected after early booking (27 pc). They delivered 101 stillbirths, most of whom died prematurely before labour and often had abdominal distension. There were 72 neonatal deaths, most of whom were preterm babies with respiratory distress and often hepatosplenomegaly. One half of the deaths from asphyxia were caused by prolonged obstructed labour and one quarter by prolapsed cord, stuck head in breech delivery and retained second twin. The incidence of both early and late onset neonatal septicaemia was very high with Group B Streptococci, Kliebsiella and Staphylococcus aureus the predominant pathogens. Improved antenatal, intrapartum and neonatal care could substantially reduce the perinatal mortality rate by preventing congenital syphilis and birth asphyxia and by treating hyaline membrane disease and neonatal septicaemia.
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PMID:The causes of perinatal mortality in Bulawayo, Zimbabwe. 147 75

As part of a survey of the causes of perinatal mortality at Mpilo Maternity Hospital, 220 neonatal deaths and the mothers of 221 stillbirths were tested for HIV-1 antibodies. The HIV positive rate in neonatal deaths was 23.6% (95% confidence interval (CI) 18.0 to 29.2%), significantly higher than 15.4% (95% CI 10.6 to 20.1%) in stillbirths. Perinatal deaths from congenital malformations, birth asphyxia, pregnancy induced hypertension, placental abruption, and oFther non-infectious causes had similar low HIV positive rates averaging 8.1% (95% CI 3.9 to 12.3%). Deaths from septicaemia had a significantly greater rate of 39.3% (95% CI 27.0 to 51.6%) and the highest rate of 72.2% (95% CI 51.5 to 92.9%) was found in deaths from congenital infection other than syphilis, indicating that maternal HIV infection predisposes to neonatal septicaemia and congenital infection. Unexplained stillbirths also had a significantly greater rate of 22.4% (95% CI 10.7 to 34.1%), presumably because some died from unrecognised infection. The rate in deaths from congenital syphilis was 17.4% (95% CI 9.6 to 25.2%), indicating a significant but weak association between these two sexually transmitted diseases in Bulawayo. The rate in deaths from hyaline membrane disease was not significantly greater at 15.0% (95% CI 6.0 to 24.0%). By predisposing to infection, maternal HIV infection was estimated to increase the stillbirth rate by 1.6 times and the neonatal mortality rate by 2.7 times. It predisposed equally to early and late onset neonatal septicaemia, but more to infection from streptococci and staphylococci than from Gram negative enterobacteria. HIV positive deaths from congenital infection had respiratory distress and usually intrauterine growth retardation, hepatosplenomegaly, and congenital pneumonia on lung histology.
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PMID:HIV-1 infection and perinatal mortality in Zimbabwe. 159 95

Two pregnant women with secondary syphilis underwent amniocentesis and evaluation for fetal syphilis. In both cases, motile spirochetes, typical of Treponema pallidum, were observed during dark-field microscopic examination of the amniotic fluid. The presence of T pallidum was confirmed by antitreponemal monoclonal antibody immunofluorescence assays and by rabbit infectivity tests using the amniotic fluid. In the first case, an infant at 35 weeks' gestation delivered within 24 hours of amniocentesis had hepatosplenomegaly, osteochondritis, and neurosyphilis. In the second case, a fetus at 24 weeks' gestation was hydropic and a fetal blood sample showed anemia, thrombocytopenia, and elevated liver enzymes. Fetal syphilis was confirmed by rabbit infectivity testing using fetal blood obtained by funipuncture. This is the first report of the diagnosis of fetal syphilis by funipuncture and confirmation of the presence of virulent T pallidum in the blood of a human fetus. The mother was treated for secondary syphilis, but the infant had residual signs of congenital infection at birth 14 weeks later. Neonatal serum from the first case and fetal serum from the second case showed specific immunoglobulin M reactivity with the 47-kd antigen of T pallidum by Western blot assays. A new wild-type strain of T pallidum, designated DAL-1, was isolated from the amniotic fluid of the first case and is available for future studies. We conclude that the presence of T pallidum in amniotic fluid or fetal blood indicates fetal-placental infection. Further investigation is necessary to determine the pathogenesis of amniotic fluid infection and its role in the prenatal diagnosis of congenital syphilis.
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PMID:Identification of Treponema pallidum in amniotic fluid and fetal blood from pregnancies complicated by congenital syphilis. 192 18

The cytomegalovirus (CMV) is an abiquitous agent that infects almost all human beings at some time during their lives. In developing area of the world, 90% or more of the population is infected during childhood. However, in developed countries the infection is acquired at a lower rate. In neonates, CMV infection can be divided into congenital and perinatal infection. Congenital CMV infection is the result of transplacental transmission, CMV can be transmitted to the fetus following reactivation as well as primary infection during pregnancy. The incidence of congenital infection is 0.2% to 2.2%. Symptomatic congenital CMV infection is more likely to be the result of primary as opposed to reactive CMV infection during pregnancy. The clinical manifestations of symptomatic CMV infection are hepatosplenomegaly, microcephaly, jaundice, petechiae, small for gestation age, periventricular calcification and chorioretinitis. Mortality may be as high as 30% among the most severely affected infants. In the survivors, about 90% will develop mild to severe handicaps. Perinatal CMV infection can be acquired from exposure to virus in the maternal genital tract at delivery, breast milk, or through blood transfusion. In premature infants who require prolonged and intensive medical care, blood transfusions are an important iatrogenic cause of CMV infection. Transfusion-acquired perinatal CMV infection can cause significant morbidity and mortality, particularly in premature infants with a birth weight of less than 1250 gm born to CMV-seronegative mothers. So CMV acquisition can be prevented either by providing these infants blood products from seronegative donors or by using frozen deglycerolized red blood cells. Two cases of neonatal CMV infection are reported, one with congenital infection, the other with perinatal infection.
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PMID:[Cytomegalovirus infection in neonate--report of two cases]. 256 49

Clinical details of 50 infants with congenital cytomegalovirus infection identified in a prospective study are reported. The mean birthweight, gestational age, and head circumference of children with congenital cytomegalovirus infection were not significantly different from those of controls. Three (6%) had symptoms at birth--two neurological and one pneumonitis. In the first four months of life transient hepatosplenomegaly occurred in two infected children and six suffered interstitial pneumonitis. Three congenitally infected children have major neurological handicaps including spastic quadriplegia, microcephaly, and psychomotor delay, and five (10%), including the one with quadriplegia, have sensorineural deafness which is bilateral in three (6%). Estimates based on these findings suggest that the impact of congenital cytomegalovirus infection is comparable to that of congenital rubella in the era before vaccination. Of the 42 children where the nature of maternal infection was classifiable, congenital infection followed primary maternal infection in 32 (76%) and recurrent infection in 10 (24%). Neurological defects followed exposure to primary maternal infection in all three trimesters of pregnancy and also recurrent maternal infection.
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PMID:Congenital cytomegalovirus infection. 609 25

We describe two patients with mevalonate kinase deficiency and prominent hematologic abnormalities and cholestatic liver disease. Patient R.B. was not anemic at birth, but developed petechiae and cutaneous extramedullary hematopoiesis, hepatosplenomegaly, leukocytosis, and recurrent febrile events without positive bacterial or viral cultures. Patient N.M. manifested minor anomalies, hepatosplenomegaly, anemia, thrombocytopenia, recurrent febrile crises, and facial rashes. Mevalonic aciduria was found by urinary organic acid analysis, and mevalonate kinase deficiency was documented in both. The clinical spectrum of normocytic hypoplastic anemia, leukocytosis, thrombocytopenia, and abnormal blood cell forms led to diagnoses of congenital infection, myelodysplastic syndromes, or chronic leukemia in these patients before recognition of mevalonate kinase deficiency. Mevalonate kinase deficiency represents a single-gene abnormality that may be associated with significant hematologic findings. Recognition of the variability of this disorder with some patients manifesting only mild neurologic findings, yet significant hepatosplenomegaly, normocytic anemia, thrombocytopenia, and leukocytosis is important for all specialists who need to be aware of this organic aciduria.
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PMID:Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. 971 5

In 2 infants, a girl and a boy, congenital viral infection was diagnosed in the neonatal period. The prenatal examination (serologic investigation for Toxoplasma gondii, rubella virus, cytomegalovirus, herpes simplex virus and syphilis (TORCHES)) was negative. In both cases prenatal ultrasonography was abnormal and suggested intrauterine infection. The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively. Both had severe cerebral damage. To diagnose severe congenital infection in the first trimester of pregnancy in presence of congenital anomalies in utero there are other possible methods than TORCHES investigation, such as polymerase chain reaction and virus culture in amniotic fluid or in foetal blood obtained by cord puncture.
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PMID:[Congenital infection: diagnostic serology of the mother not always definitive]. 1121 56

Cytomegalovirus (CMV) is the most common congenital infection in humans. Congenital CMV infection can follow either a primary or recurrent maternal infection, but the likelihood of fetal infection and the risk of associated damage is higher after a primary infection. Approximately 90% of congenitally infected infants are asymptomatic at birth. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. More frequent and more severe sequelae occur in symptomatic infants, notably psychomotor hearing loss and retardation. Congenital CMV infection can be diagnosed by isolation of the virus from the urine or saliva within the first three weeks of life. Rapid diagnosis can be accomplished by detection of CMV DNA by DNA amplification or hybridization techniques.
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PMID:Congenital cytomegalovirus infection. 1274 81


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