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Laboratory Records (laboratory + record)
Selected AbstractsFollow up and evaluation of the Victorian first-trimester combined screening programme for Down syndrome and trisomy 18BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 7 2007AM Jaques Objective, The objective of this study was to follow up and evaluate the statewide first-trimester combined screening programme for Down syndrome and trisomy 18 at Genetic Health Services Victoria, Australia. Design, Retrospective population cohort. Setting, Maternal Serum Screening Laboratory records. Sample, All women screened between February 2000 and June 2002 (16 153 pregnancies). Methods, Screening results were matched to Victorian perinatal and birth defect data via record linkage, with an ascertainment of 96.8% of pregnancy outcomes. Manual follow up with health professionals increased ascertainment to more than 99%. Main outcome measures, Fetal Down syndrome or trisomy 18, and combined screen results, to calculate test characteristics. Results, Using a risk threshold of 1 in 300 at time of ultrasound, the sensitivities for standard first-trimester combined screening and augmented 13-week combined screening for Down syndrome were 87.3 and 90.5% and the false-positive rates (FPR) were 4.1 and 3.9%, respectively. The sensitivity for trisomy 18 was 66.7% (10/15, 95% CI 42.8,90.5%) with a 0.4% FPR and 15.2% positive predictive value (1 in 250 risk threshold). Conclusions, The combined use of record linkage and manual follow-up techniques was effective in ascertaining more than 99% of pregnancy outcomes for calculations of accurate test characteristics of the combined screen. The sensitivity for Down syndrome at Genetic Health is comparable to similar populations. However, the sensitivity for trisomy 18 is lower than that elsewhere, which may reflect the overall low birth prevalence of trisomy 18 and associated small numbers in this particular cohort. [source] Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseasesDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2006Joannie Hui MBBS The aim of this study was to illustrate the difficulties in establishing a diagnosis of mitochondrial respiratory chain (MRC) disorders based on clinical grounds in combination with intermediate activities of the MRC enzyme complexes. We reviewed retrospectively all medical and laboratory records of patients initially considered likely to have MRC disorders on clinical grounds, and subsequently diagnosed with other disorders (n=20; 11 males, 9 females). Data were retrieved from hospital records, referral letters, and results of enzymatic analysis at a reference laboratory. Clinical symptoms included developmental delay, epilepsy, hypotonia, movement disorder, spastic quadriplegia, tetany, microcephaly, visual problems, carpopedal spasms, dysmorphism, hearing loss, muscle weakness and rhabdomyolysis, and fulminant hepatitis. Blood and cerebrospinal fluid lactate levels were elevated in 13/20 and 9/20 respectively. One or more MRC complex activities (expressed as ratios relative to citrate synthase and/or complex II activity) were less than 50% of control mean activity in 11/20 patients (including patients with deficiencies of pyruvate dehydrogenase complex, pantothenate kinase, holocarboxylase synthetase, long-chain hydroxy acyl-CoA dehydrogenase, molybdenum co-factor, and neonatal haemochromatosis). One patient had a pattern suggestive of mitochondrial proliferation. We conclude that intermediate results of MRC enzymes should be interpreted with caution and clinicians should be actively looking for other underlying diagnoses. [source] A survey of equine abortion, stillbirth and neonatal death in the UK from 1988 to 1997EQUINE VETERINARY JOURNAL, Issue 5 2003K. C. SMITH Summary Reasons for performing study: A detailed review of laboratory records for equine abortion is fundamental in establishing current disease trends and suggesting problems important for further research. Objectives: To review the causes of abortion and neonatal death in equine diagnostic submissions to the Animal Health Trust over a 10 year period. Methods: The diagnoses in 1252 equine fetuses and neonatal foals were reviewed and analysed into categories. Results: Problems associated with the umbilical cord, comprising umbilical cord torsion and the long cord/cervical pole ischaemia disorder, were the most common diagnoses (38.8%: 35.7% umbilical cord torsion and 3.1% long cord/cervical pole ischaemia disorder). Other noninfective causes of abortion or neonatal death included twinning (6.0%), intrapartum stillbirth (13.7%) and placentitis, associated with infection (9.8%). E. coli and Streptococcus zooepidemicus were the most common bacteria isolated. Neonatal infections not associated with placentitis accounted for 3.2% of incidents; and infections with EHV-1 or EHV-4 for 6.5%. Conclusions: Definitive diagnosis of equine abortion is possible in the majority of cases where the whole fetus and placenta are submitted for examination. Potential relevance: Given the high incidence of umbilical cord torsion and related problems as causes of abortion in UK broodmares, more research on factors determining umbilical cord length and risk of torsion is essential. [source] Pregnancy outcome in congenital dyserythropoietic anemia type IEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 4 2008Hanna Shalev Abstract Objectives:, Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited disease characterized by moderate to severe macrocytic anemia and abnormal erythroid precursors with nuclear chromatin bridges and spongy heterochromatin. Moderate to severe maternal anemia is a recognized independent risk factor for low birth weight (LBW) and complicated delivery. The aim of the study was to review the outcome of pregnancies in women with CDA I. Methods:, The clinical and laboratory records of 28 spontaneous pregnancies in six Bedouin women with CDA I were reviewed. The results were compared with findings from a retrospective review of a large population-based registry including all pregnancies in Bedouin women during the same 15-yr period. Results:, Eighteen pregnancies in women with CDA I (64%) were complicated. One pregnancy was aborted spontaneously in the first trimester and one resulted in a non-viable fetus (stillborn at 26 wk). Cesarean section (CS) was performed in 10 pregnancies (36%). Eleven of the 26 newborns (42%) had a LBW: six were born prematurely and five were small for gestational age. The odds ratio for CS in women with CDA I compared with healthy Bedouin women was 4.5 [95% confidence interval (CI) 1.2,10.3], and for a LBW infant, 5.5 (95% CI 2.4,12.3). Careful follow-up was associated with significantly better fetal outcome (P = 0.05). Conclusions:, Pregnancies in women with CDA I are at high risk for delivery-related and outcome complications. To improve fetal outcome, women with CDA I should be carefully monitored during pregnancy. [source] The costs of heparin-induced thrombocytopenia: a patient-based cost of illness analysisJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 5 2009T. WILKE Summary.,Background and objectives:,Due to the complexity of heparin-induced thrombocytopenia (HIT), currently available cost analyses are rough estimates. The objectives of this study were quantification of costs involved in HIT and identification of main cost drivers based on a patient-oriented approach. Methods:,Patients diagnosed with HIT (1995,2004, University-hospital Greifswald, Germany) based on a positive functional assay (HIPA test) were retrieved from the laboratory records and scored (4T-score) by two medical experts using the patient file. For cost of illness analysis, predefined HIT-relevant cost parameters (medication costs, prolonged in-hospital stay, diagnostic and therapeutic interventions, laboratory tests, blood transfusions) were retrieved from the patient files. The data were analysed by linear regression estimates with the log of costs and a gamma regression model. Mean length of stay data of non-HIT patients were obtained from the German Federal Statistical Office, adjusted for patient characteristics, comorbidities and year of treatment. Hospital costs were provided by the controlling department. Results and conclusions:,One hundred and thirty HIT cases with a 4T-score ,4 and a positive HIPA test were analyzed. Mean additional costs of a HIT case were 9008 ,. The main cost drivers were prolonged in-hospital stay (70.3%) and costs of alternative anticoagulants (19.7%). HIT was more costly in surgical patients compared with medical patients and in patients with thrombosis. Early start of alternative anticoagulation did not increase HIT costs despite the high medication costs indicating prevention of costly complications. An HIT cost calculator is provided, allowing online calculation of HIT costs based on local cost structures and different currencies. [source] Epidemiology, treatment and outcome of candidemia: a five-year review at three Canadian hospitalsMYCOSES, Issue 5-6 2002Behandlung und ausgang von Candidämien: Eine Fünfjahresübersicht an drei kanadischen Hospitälern, Epidemiologie Candidämie; Epidemiologie; Kanada Summary. To determine treatment regimens and epidemiological patterns in the occurrence of candidemia, a review of cases occurring from 1992 to 1996 in three large Canadian hospitals, University of Alberta Hospital (UAH) and Royal Alexandra Hospital (RAH), Edmonton, and Foothills Medical Center (FMC), Calgary, was carried out. Cases were detected by reviewing microbiology laboratory records. There were 202 cases in all (UAH 104, FMC 70, RAH 28). For the five study years the candidemia rate was 4.5/10 000 discharges (UAH 7.6, FMC 4.9, and RAH 1.7; P < 0.05 for all interhospital comparisons). The rate remained stable between 1992 and 1995 but rose dramatically in 1996 to 7.6/10 000 (P < 0.01 compared to 1995) as a result of increases at UAH and RAH. Of the 208 species identified, Candida albicans accounted for 135 (65%). During hospitalization 93 (46%) patients died. Species did not influence outcome. Antifungal treatment with fluconazole alone was given to 14% of patients, and increased in frequency throughout the study. No antifungal therapy was given to 47 patients (23%). This group had a much higher mortality (68%) than those who received treatment (39% P < 0.01). Twenty of the untreated patients had already died by the time the blood culture had been reported as growing a yeast. Candidemia rates vary significantly between hospitals and increased in some but not all over the five study years. As many patients with candidemia will have died by the time laboratory diagnosis is made, presumptive antifungal therapy in high-risk patients may be necessary if outcome is to be improved. Zusammenfassung. Um epidemiologische Muster zu erkennen und Behandlungsmethoden zu optimieren, wurden die Candidämiefälle in der Zeit von 1992 bis 1996 in drei großen kanadischen Kliniken analysiert: University of Alberta Hospital (UAH) Royal Alexander Hospital (RAH), Edmonton und Foothills Medical Center (FMC), Calgary. Es wurden die archivierten mikrobiologischen Laborbefunde ausgewertet, insgesamt 202 Fälle (UAH 104, FMC 70, RAH 28). Im 5-Jahreszeitraum betrug die Candidämierate 4.5/10 000 Entlassungen (UAH 7.6, FMC 4.9, RAH 1.7, P < 0.05 für den Interklinikvergleich). Die Rate blieb zwischen 1992 und 1995 stabil, stieg aber im Jahr 1996 auf 7.6/10 000 (P < 0.01 im Vergleich zu 1995) infolge der Zunahme im UAH und RAH. Unter den 208 identifizierten Isolaten waren 135 Candida albicans (65%). Während der Hospitalisierung verstarben 93 Patienten (46%). Die Erregerart hatte keinen Einfluß auf den Krankheitsausgang. Fluconazol allein wurde 14% der Patienten verabreicht, die Verordnungshäufigkeit stieg während der Studie an. Keine antimykotische Therapie wurde 47 Patienten verordnet (23%). Diese Gruppe hatte eine wesentlich höhere Mortalität, nämlich 68%, im Vergleich zu der behandelten mit 39% (P < 0.01). 20 der nichtbehandelten Patienten waren schon zu dem Zeitpunkt verstorben, als der Befund ,Hefewachstum' aus der Blutkultur erhoben wurde. Die Candidämieraten unterschieden sich signifikant zwischen den Kliniken und stiegen in einigen, aber nicht allen im 5-Jahreszeitraum an. Da viele Patienten bereits während des Zeitraumes der Labordiagnostik verstarben, erscheint bei Hochrisikopatienten eine empirische Frühtherapie unabdingbar, wenn der Krankheitsausgang optimiert werden soll. [source] Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year periodACTA PAEDIATRICA, Issue 8 2010G Malm Abstract Aim:, The aim of this study was to present the natural clinical course in children and adolescents with MPS III diagnosed during a 30-year period in Sweden. Methods:, The patients were identified from metabolic laboratory records between 1975 and 2004. Patient data were assessed from interviews of parents and by clinical examination and records from the patients. Results:, A total of 15 children, 68%, with MPS IIIA were diagnosed at a median age of 6.8 years (range 1.2,18.9 years). One boy had MPS IIIB and five children MPS IIIC, diagnosed at ages between 1.9 and 11.6 years. In one child the type was not determined. The median age of children with type IIIA who had deceased was 16.2 years (range 10.4,31.2 years). Ten individuals with MPS III are alive at ages between 5 and 29 years. In four families, two children were affected. Conclusion:, In 22 Swedish children with Sanfilippo disease an early normal development followed by a delay in speech and an appearance of behaviour problems was found in most children during the early preschool period. Mental retardation was diagnosed in almost all individuals before starting school. Early diagnosis is important in this devastating, progressive disorder, not only for genetic counselling but also for participation in future treatments. [source] Toxocara canis: egg presence in Melbourne parks and disease incidence in VictoriaCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 2 2003Susan M Carden FRANZCO Abstract Purpose:,Toxocara canis can cause blinding eye disease. This study assessed the presence of T. canis eggs in soil from parks in Melbourne and also the incidence of presumed ocular toxocariasis in Victoria. Methods:,One hundred and eighty soil samples were collected from nine suburban locations in Melbourne, Australia. These were analyzed for the presence of T. canis eggs. A search of laboratory records of T. canis serology requests from Victorian patients over an 8-year period was performed. Results:,Only one soil sample was positive for T. canis eggs. Positive T. canis serology was reported in 13 samples from patients. These patients all had ocular features suggestive of T. canis infection. Conclusion:,Toxocara canis eggs are rare in public parks in Melbourne and symptomatic ocular toxocariasis is uncommon in the Victorian population. The acquisition of the disease is unlikely to be from public parks. [source] | ||||||||||