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Biomedical subjects

M Lappi

Publications and source records attributed to M Lappi.

At least 19 recordsLinked to original sources
PubMed2006

Oocyte euploidy, pronuclear zygote morphology and embryo chromosomal complement.

BACKGROUND: Pronuclear morphology has been proposed as an indicator of embryo development and chromosomal complement. In this study, the morphology of pronuclear zygotes generated from euploid oocytes [diagnosed by first polar body (PB1) analysis] was evaluated and compared with the configurations observed in chromosomally normal embryos (diagnosed by blastomere analysis). MATERIALS AND METHODS: Group 1--238 patients underwent 273 assisted conception cycles in combination with the screening of aneuploidy on PB1 for the chromosomes 13, 15, 16, 18, 21 and 22. Only normal oocytes were inseminated. Group 2--218 patients underwent 318 assisted conception cycles with aneuploidy screening on day 3 embryos. In both groups, oocytes were checked for fertilization and pronuclear morphology at 16 h after insemination. RESULTS: Seventy-three percent of zygotes from Group 1 had the configurations with centralized and juxtaposed pronuclei, large-size aligned or scattered nucleoli and PB located in the longitudinal or perpendicular axis of pronuclei. In Group 2, these configurations corresponded to those with the highest proportion of chromosomally normal embryos. Accordingly, in both groups, these configurations had a higher implantation rate than all the others. CONCLUSIONS: These observations confirm that some patterns of pronuclear morphology are associated with a higher proportion of euploidy and implantation reaffirming the relevance of this scoring system for the prediction of zygote viability.

Adult↗
PubMed2002

Comparison of the opioid-sparing efficacy of diclofenac and ketoprofen for 3 days after knee arthroplasty.

BACKGROUND: Comparative postoperative non-steroidal anti-inflammatory drug (NSAID) studies in orthopedic patients have usually been restricted in time to the first postoperative day. The opioid-sparing effect of NSAIDs may be beneficial postoperatively as long as pain otherwise restricts ambulation and rehabilitation. We therefore compared the analgesic efficacy of the maximum recommended doses of diclofenac and ketoprofen for 3 days after knee arthroplasty. METHODS: We studied 64 knee arthroplasty patients, operated on under spinal anesthesia. In a randomized, double-blind and placebo-controlled fashion, the patients received either i.v. diclofenac 75 mg (n = 24), ketoprofen 100 mg (n = 24) or saline (n = 16) in the recovery room, followed by oral diclofenac 150 mg/day, ketoprofen 300 mg/day or placebo, respectively, for 3 days, supplemented by patient-controlled analgesia (PCA) with i.v. oxycodone. RESULTS: The mean consumption of oxycodone during the first, second and third study days was 45.3, 22.3 and 15.2 mg in the diclofenac group, 43.5, 37.5 and 21.8 mg in the ketoprofen group, and 61.2, 45.9 and 36.1 mg, respectively, in the placebo group. Oxycodone consumption was significantly lower (P < 0.05) in the ketoprofen group than in the placebo group in the postoperative period 13-24 h and 61-72 h. Diclofenac was superior to placebo in the postoperative period 25-48 h (P < 0.01), 49-60 h (P < 0.05) and to ketoprofen at 49-60 h (P < 0.05). During administration of diclofenac on days 1-3 and ketoprofen on day 2, the mean pain scores (VAS) were lower than in the placebo group (P < 0.05). Six patients had difficulties in operating the PCA device. There were no differences in blood loss. CONCLUSION: We conclude that in the first day after knee arthroplasty (13-24 h), ketoprofen exerted an opioid-sparing effect. After day 1 (25-60 h), with the doses used, diclofenac proved to be better than placebo, whereas ketoprofen was not.

Adult↗
PubMed1998

Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall.

In this 8-year-old boy, who had been exposed to alcohol and oxazepam during pregnancy, visual failure was the first symptom of a neuronal ceroid lipofuscinosis (NCL) disorder, noticed at the age of 5 years. Ophthalmological examinations revealed a cystic type of macular degeneration, which would be more likely to be found in variant late infantile NCL. However, vacuolated lymphocytes were found in peripheral blood films and a diagnosis of the juvenile form of NCL (JNCL) was made. Molecular genetic studies showed the patient to be homozygous for the major mutation of JNCL, a 1.02-kb deletion. In whole-night polysomnography, there was significantly more epileptiform activity than in other JNCL patients under 10 years of age. Using magnetic resonance imaging, the signal intensity of the white matter was increased, especially in the periventricular area. In addition, there were enlarged perivascular spaces in the watershead areas. The corpus callosum was thin. Finally, in the autonomic ganglion cells of the submucosal nerve plexus there were membrane-enclosed homogeneous and granular cytosomes resembling the granular osmiophilic deposits of infantile NCL. However, extraneural cells, including blood capillaries and smooth muscle, showed inclusions with fingerprint and curvilinear profiles. The features of the present case indicated a phenotypic variant of JNCL.

Child↗
PubMed1998

Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.

OBJECTIVE: The purpose of the study was to determine the nature and course of ophthalmic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a recently discovered disorder of mitochondrial fatty acid beta-oxidation. STUDY DESIGN: The study design was a cohort (case series). PARTICIPANTS: A retrospective review of the records of 15 children who had died during their first 2 years was performed. Also performed were a longitudinal reanalysis and cross-sectional clinical examination of four long-term survivors aged 5 to 31 years. MAIN OUTCOME MEASURES: Visual acuity, refraction, visual fields, ophthalmoscopy, fluorescein angiography, biometry, corneal topography, electroretinography (ERG), visual-evoked potentials (VEPs), color vision, and dark adaptation were measured. RESULTS: In seven children, ophthalmoscopic findings were within normal limits at 3 days to 13 months of age (median, 4.8 months). In 11 children, a granular retinal pigment epithelium (RPE), with or without pigment clumping in the macula, was seen at 4 months to 5 years of age (median, 9 months). Two long-term survivors, 16 and 31 years of age, eventually had circumscribed atrophy of the choroid, RPE, and retina, which coincided with a posterior staphyloma type 1. They had progressive axial myopia starting at 6 and 12 years of age and later paracentral scotomas leading to poor central vision. They suffered from early difficulty with mesopic vision, glare, and a severe generalized color vision deficiency that started as a tritanomaly. A third survivor was mildly myopic at 5 years of age. All four surviving patients had visually insignificant, flake-like supranuclear opacities in the lens. The ERG initially was normal but deteriorated during the first decade and later was unrecordable. The VEP responses remained fairly normal. Initially, angiography showed no blockade of the choroidal fluorescence because of the thin RPE. Filling of choroidal vessels was delayed, and the choriocapillaris and, later, larger choroidal vessels in the posterior pole became nonperfused. CONCLUSIONS: In LCHAD deficiency, the fundus is normal at birth (stage 1). Soon, however, pigment dispersion occurs in the RPE (stage 2), followed by circumscribed chorioretinal atrophy, occlusion of choroidal vessels, and deterioration of central vision, often with relative sparing of the peripheral fundus (stage 3). Finally, posterior staphylomas and central scotomas may develop (stage 4). Developmental cataract, progressive myopia, and deterioration of visual fields and color vision are new findings in LCHAD deficiency. The chorioretinopathy and abnormal ERG precede the development of myopia and posterior staphyloma, which, in turn, coincide with the loss of macular vision. The authors postulate that the RPE or choriocapillaris is primarily affected. Awareness of the characteristic ocular features is important because of an opportunity for dietary treatment, genetic counseling, and prenatal diagnosis.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed1997

Responses of HDL subclasses, Lp(A-I) and Lp(A-I:A-II) levels and lipolytic enzyme activities to continuous oral estrogen-progestin and transdermal estrogen with cyclic progestin regimens in postmenopausal women.

Seventy postmenopausal women took part in the study. Subjects received either continuous oral 17 beta-estradiol 2 mg/day combined with norethisterone acetate 1 mg/day (E2/NETA, Kliogest) or transdermal treatment consisting of 28 day cycles with patches delivering 17 beta-estradiol 50 micrograms/day (Estraderm) combined with cyclic medroxyprogesterone acetate 10 mg/day (E2/MPA, Provera), on days 17-28. At baseline the serum lipid and lipoprotein concentrations, composition and concentrations of high density lipoprotein (HDL) subclasses, lipoprotein (Lp)(AI) and Lp(A-I:A-II) levels were comparable in the two groups. In the E2/NETA group, after 12 months hormone replacement therapy (HRT), the HDL2 cholesterol concentration decreased by 17% (P < 0.01) and the HDL3 cholesterol remained unchanged. The concentrations of HDL2b, HDL2a and HDL3a were reduced by 30, 26 and 15%, respectively, P < 0.001, and the cholesterol:triglyceride ratio decreased significantly in all HDL subclasses. Apolipoprotein (apo) A-I concentration decreased by 5% (P < 0.05), but apo A-II, Lp(A-I) and Lp(A-I:A-II) concentrations remained unchanged. In the E2/MPA group the HDL2 and HDL3 cholesterol levels were both reduced by 6% (P < 0.05) and the HDL3a, HDL3b and HDL3c concentrations decreased by 14, 12 and 17% during the E2/MPA phase compared with baseline (P < 0.01). No major changes in the composition of HDL subclasses occurred in the E2 MPA group during treatment. The apo A-I and Lp(A-I) levels were not changed, but apo A-II and Lp(A-I:A-II) concentrations decreased by 8 and 5%, P < 0.001 and P < 0.05, respectively. At 12 months the postheparin plasma hepatic lipase (HL) activity decreased only in the E2/NETA group (by 12%, P < 0.05). The cholesteryl ester transfer protein (CETP) activity was not affected by either HRT regimen. The results of our study show that the 2 HRT regimens have multiple effects on HDL particles and HRT induced changes in HDL are not associated with changes in activities of lipolytic enzymes or CETP.

Administration, Cutaneous↗
PubMed1997

EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis.

Sixteen children with infantile neuronal ceroid-lipofuscinosis (INCL), age range 0.5 to 5.4 years, were studied using EEG, electroretinograms (ERG), visual evoked potentials (VEP) and somatosensory evoked potentials (SEP). Electroencephalography was the first of these examinations to reveal abnormalities, however the EEG may be normal at the preclinical stage. The first abnormality to appear was an attenuated reaction to passive eye opening and closing which was followed by disturbances in background activity and diminution in amplitude, and by disappearance of sleep spindles. The gradual disappearance of posterior rhythm reactivity and of sleep spindles suggests that thalamic dysfunction progresses with time. EEG inactivity appeared by the age of 3 years. Evoked potentials were normal in the early stages of the disease. SEP showed abnormalities at Stage 2 (1.7 years), while ERG and VEP abnormalities appeared at Stage 3 (by the age of 2.5 years). All neurophysiological reactions examined were abolished by the age of 4 years. Follow-up EEG gives important hints as to the early diagnosis of INCL. Progression of the disease can be followed by evoked potentials which may also be helpful in the differential diagnostics.

Child, Preschool↗
PubMed1996

Different effects of continuous oestrogen-progestin and transdermal oestrogen with cyclic progestin regimens on low-density lipoprotein subclasses.

Seventy-five postmenopausal women were randomly allocated to receive either continuous oral 17 beta-oestradiol 2 mg day-1 and norethisterone acetate 1 mg day-1 (E2/NETA) or transdermal treatment consisting of 28-day cycles with patches delivering 17 beta-oestradiol 50 micrograms day-1 combined with oral cyclic medroxyprogesterone acetate 10 mg day-1, on days 17-28 (E2/MPA). At baseline, the plasma lipid and lipoprotein concentrations, composition and concentrations of low-density lipoprotein (LDL) subclasses (LDL1, LDL2 and LDL3) isolated by density-gradient ultracentrifugation were similar in the two groups. The post-heparin plasma hepatic lipase activity (HL) correlated inversely with the percentage of total LDL found in LDL1 (buoyant LDL) and directly with the percentage of LDL found in LDL3 (dense LDL). After 12 months of hormone replacement therapy (HRT), the total and LDL-cholesterol concentration of the E2/ NETA group decreased by 14% and 17% respectively (P < 0.001), while in the E2/MPA group these parameters remained unchanged. The lowering of LDL-cholesterol in the E2/NETA group was a consequence of a significant reduction of the large, buoyant LDL particles (LDL1) from 103 mg dL-1 to 60 mg dl-1 (P < 0.001) and of a decrease of cholesterol content of LDL particles in the major LDL subclass, LDL2. In the E2/MPA group, the concentration of LDL1 decreased, but less than in the oral group. In both groups, a significant increase in the concentration of the LDL3 subclass was observed, indicating an overall shift to denser LDL particles. After 12 months, the post-heparin plasma HL activity decreased only in the E2/NETA group (by 12%). The inverse correlation between post-heparin plasma HL activity and LDL1 persisted in both groups, but the direct correlation between HL and LDL3 vanished in the E2/NETA group and subsided in the E2/MPA group. Our results indicate that HRT has multiple effects on LDL subclasses and suggest that these changes cannot be explained by changes in HL activity.

Body Mass Index↗
PubMed1994

Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.

We report the clinical findings in 19 Finnish patients, including six pairs of siblings, with a new, early onset spinocerebellar ataxia. The slowly progressive clinical symptoms manifested between one and two years of age in previously healthy infants. The first manifestation of children at that age was clumsiness and loss of ability to walk. Ataxia, athetosis and muscle hypotonia with loss of deep tendon reflexes were discovered on clinical examination. By school age ophthalmoplegia and hearing loss were diagnosed, while sensory neuropathy developed by adolescence. In addition, an acute crisis with status epilepticus was a late manifestation. We found a marked decrease in sensory nerve condition velocities, a progressive loss of myelinated fibers in sural nerve specimen, and abnormal background activity in EEG with advancing age. The main finding in neuroradiological investigations was cerebellar atrophy. The occurrence of the disease in siblings and lack of manifestations in parents indicate recessive inheritance.

Adolescent↗
PubMed1993

Retinopathy of prematurity in southern Finland.

138 premature infants born 1989-1991 have been examined by the ophthalmologist in Children's Hospital, University of Helsinki. The mean gestational age was 27.3 weeks and the mean birth weight 986 grams. Twenty-four cases of ROP were found. Seven of them got cryocoagulation treatment in both eyes for ROP 3 with plus disease. Only one child became blind. The risk to get ROP was 17.4% in the whole material and was highest among the most immature infants. The cryocoagulation treatment appeared an effective therapy to prevent blindness.

Blindness↗
PubMed1992

Inositol supplementation in premature infants with respiratory distress syndrome.

BACKGROUND: Inositol influences cellular function and organ maturation. Feeding premature infants inositol-rich breast milk increases their serum inositol concentrations. Whether inositol supplementation benefits infants receiving fluids for parenteral nutrition, which are inositol-free, is not known. METHODS: We carried out a placebo-controlled, randomized, double-blind trial to determine the effects of administering inositol (80 mg per kilogram of body weight per day) during the first five days of life to 221 infants with respiratory distress syndrome who were receiving parenteral nutrition (gestational age, 24 to 32 weeks; birth weight, less than 2000 g). All the infants were treated with mechanical ventilation and some with surfactant as well. The primary end point was survival at 28 days without bronchopulmonary dysplasia. RESULTS: The 114 patients given inositol had significantly lower mean requirements for inspiratory oxygen (P less than 0.01) and mean airway pressure (P less than 0.05) from the 12th through the 144th hour of life than did the 107 infants given placebo. Eighty-one infants given inositol and 51 given placebo survived without bronchopulmonary dysplasia (71 vs. 55 percent; P = 0.005). In the 65 infants given surfactant, however, inositol had no effect on the degree of respiratory failure. Thirteen infants given inositol and 21 given placebo had retinopathy of prematurity (13 vs. 26 percent; P = 0.022); none of the infants given inositol had stage 4 disease, whereas 7 of those given placebo did (0 vs. 9 percent; P = 0.012). Among the infants given placebo, those who had poor outcomes (death, bronchopulmonary dysplasia, or stage 4 retinopathy of prematurity) had lower serum inositol concentrations during days 2 through 7 than those who had good outcomes (P less than 0.01). CONCLUSIONS: The administration of inositol to premature infants with respiratory distress syndrome who are receiving parenteral nutrition during the first week of life is associated with increased survival without bronchopulmonary dysplasia and with a decreased incidence of retinopathy of prematurity.

Bronchopulmonary Dysplasia↗
PubMed1991

The spectrum of Jansky-Bielschowsky disease.

A series of five patients with a variant type of Jansky-Bielschowsky disease is presented. The disease initiated between four and a half and seven years with mental and slight motor symptoms. The additional neurological symptoms and signs, i.e. visual failure, retinal degeneration, ataxia, myclonia and epilepsy developed in all children before the age of ten years. The present series differs from our previous series of 16 cases especially in regard of neurophysiological findings (photic spikes, high visual evoked potential, VEP and high somatosensory evoked potential, SEP). VEP became abnormally high between 8.0 and 9.5 years instead of being an early finding as in the previous series. Photic spikes appeared also later in the present series. Electromicroscopic investigation revealed cytosomes with fingerprint profiles (FP) in the autonomic ganglion cells and cytosomes with both FP and curvilinear (CP) profiles in many extraneural cells including smooth muscle, Schwann cells, capillary endothelium and macrophages. In the light of our 21 Finnish patients and the literature, the spectrum of Jansky-Bielschowsky disease seems to be much wider than previously assumed. The diagnosis should be based on clinical, ophthalmological, neurophysiological and ultrastructural findings. Repeated neurophysiological studies may be necessary.

Age Factors↗
PubMed1990

Irradiation cataract in children after bone marrow transplantation.

Chemotherapy and radiation produce a dose-dependent anti-leukemic effect. Combined chemoradiotherapy and bone marrow transplantation (BMT) were given in our clinic to treat children with acute leukemias. Total body irradiation of 10 Gy in a single dose was used. One long-term side effect of this treatment was the development of subcapsular cataract; this was seen in all nine long-term survivors of the 17 children with acute lymphoblastic (ALL) or acute myelogenous (AML) leukemia who were treated as described above. One year after marrow transplantation, all the eyes studied had visual acuity of 20/20 and an optically clear lens. Three years later, 60% of the eyes had visual acuity of less than 20/40 and all had posterior, subcapsular cataracts. The cataract in all cases was quite uniform, consisting of opacities in the posterior subcapsular region. Cataract formation was treatment-related and seemed to correlate only to the type of total body irradiation. We concluded that the cataracts seen in the present study were a late complication of allogeneic BMT and were specifically due to the single-dose total body irradiation.

Adolescent↗
PubMed1985

Antioxidant treatment in Spielmeyer-Sjögren's disease.

The data for 125 patients with Spielmeyer-Sjögren's disease is presented. Antioxidant therapy was given to 49. 27 received a combination of vitamin E, vitamin C, methionine and BHT. As the disease began to progress, the treatment was changed to a combination of sodium selenite and vitamin E in 14 of the 27 patients. The same therapy was also given to 22 children who had not received previous antioxidant supplementation. The number of positive and negative responses was nearly equal in the 2 treatment groups. However, the quality of the response was better in the selenite group and it has been possible in some cases to stop for several years, at least, the deterioration which began during the original therapy.

Adolescent↗