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PubMed2005

Single pulse electrical stimulation for identification of structural abnormalities and prediction of seizure outcome after epilepsy surgery: a prospective study.

BACKGROUND: Abnormal late responses to single pulse electrical stimulation (SPES) in patients with intracranial recordings can identify epileptogenic cortex. We aimed to investigate the presence of neuropathological abnormalities in abnormal SPES areas and to establish if removal of these areas improved postsurgical seizure control. METHODS: We studied abnormal responses to SPES during chronic intracranial recordings in 40 consecutive patients who were thereafter operated on because of refractory epilepsy and had a follow-up period of at least 12 months. FINDINGS: 22 patients had abnormal responses to SPES exclusively located in resected regions (96% with favourable outcome), seven had abnormal responses to SPES located in resected and non-resected regions (71% with favourable outcome), three had abnormal responses to SPES exclusively outside the resected region (none with favourable outcome), and eight did not have abnormal responses to SPES (62.5% with favourable outcome). Surgical outcome was significantly better when areas with abnormal responses to SPES were completely resected compared with partial or no removal of abnormal SPES areas (p=0.006). Neuropathological examination showed structural abnormalities in the abnormal SPES areas in 26 of the 29 patients in whom these regions were resected, despite the absence of clear MRI abnormalities in nine patients. INTERPRETATION: Abnormal responses to SPES are functional markers of epileptogenic structural abnormalities, and can identify epileptogenic cortex and predict surgical outcome, especially when a frontal or temporal focus is suspected.

Adolescent↗

PubMed2002

Do abnormal liver function tests predict inpatient imaging yield? An evaluation of clinical decision making.

RATIONALE, AIMS AND OBJECTIVES: Diagnostic abdominal imaging is frequently performed in hospitalized patients to assess the cause of abnormal liver function tests (LFTs). We undertook this study to assess whether the extent and severity of LFTs abnormalities predicted the yield of inpatient imaging. METHODS: We retrospectively reviewed inpatients' abdominal imaging studies performed for abnormal LFTs during a 27 month period. Imaging results were matched to LFTs performed during a 5 day collection window surrounding the image request date. Five LFTs were categorized by severity of abnormality and were then collapsed into three classes based on pathophysiology. RESULTS: Among 759 imaging studies completed for the indication of abnormal LFTs, 196 (26%) were positive (abnormal and explained the abnormal LFTs). Among the LFT classes, severity of laboratory test abnormality correlated with positive imaging examinations yield only for the transaminases: 18% for the normal-mildly abnormal transaminases compared with 31% for moderately-severely abnormal transaminases. The number of abnormal LFT classes per study correlated only slightly better: 21% of patients with none or one abnormal LFT class had a positive imaging study compared with 35% of patients with all three abnormal LFT classes. CONCLUSIONS: The yield of inpatient abdominal imaging for abnormal LFTs correlates only weakly with both the severity and the extent of different abnormal LFTs. Further research is needed to define the optimal imaging strategies for evaluating inpatients with suspected hepatobiliary disease.

Biliary Tract Diseases↗

PubMed1993

Parietal lobe abnormalities detected with MR in patients with infantile autism.

OBJECTIVE: Infantile autism is a neurologic disorder that severely disrupts the development of many higher cognitive functions. The most consistent abnormal neuroanatomic findings in autism are loss of Purkinje neurons in the posterior cerebellum as detected by autopsy studies and hypoplasia of the posterior cerebellar vermis and hemispheres as detected by in vivo neuroimaging. Evidence of developmental arrest has also been detected in limbic structures in autopsy studies of autistic patients with mental retardation. Neither in vivo neuroimaging nor autopsy studies of autistic persons have reported abnormalities in the cerebrum. Because the cerebrum mediates many higher cognitive functions, such as social communication, language, abstract reasoning, planning, and organization, that are known to be deficient in patients with autism, a closer examination of the neuroanatomy of the cerebrum in infantile autism is warranted. MATERIALS AND METHODS: MR images of 21 healthy autistic patients (6-32 years old) were mixed with MR images of control subjects and reviewed on four separate occasions by a neuroradiologist for any neuroanatomic abnormalities. Autism was diagnosed on the basis of criteria for autism as defined by the Diagnostic and Statistical Manual of Mental Disorders, and the autistic patients did not have any other concurrent neurologic disorders. To control for systematic bias in judging the type and location of abnormalities in the autistic population, three control groups were used: a normal control group of 12 subjects, a control group of 23 nonautistic patients with a variety of brain abnormalities for the first review, and another control group of 17 nonautistic patients for the second review. Control patients with brain abnormalities were selected from patients' files on the basis of MR findings of a variety of brain abnormalities. All MR images were coded for anonymity, randomly mixed, and examined by a neuroradiologist blinded to the purpose of the study and to the group membership of each subject. All normal and abnormal findings seen on the MR images of each subject were described on a standard form listing all major brain structures to ensure an examination of each structure in turn. To test for reliability, three subsequent reviews were performed by the same neuroradiologist. RESULTS: Parietal lobes were abnormal in appearance in 43% (9/21) of autistic patients. Cortical volume loss in the parietal lobes was seen in seven autistic patients; in four of these cases, cortical volume loss extended either into the adjacent superior frontal or occipital lobe. Additional abnormalities detected with MR in these nine patients included white matter volume loss in the parietal lobes (three patients) and thinning of the corpus callosum, especially along the posterior body (two patients). Abnormalities were bilateral. The mesial, lateral, and orbital regions of the frontal lobes; temporal lobes; limbic structures; basal ganglia; diencephalon; and brainstem were normal in all autistic patients. No abnormalities were found in the 12 normal control subjects. The control subjects with neurologic abnormalities had various abnormal findings consistent with their medical conditions. CONCLUSION: Our results indicate that the parietal lobes are reduced in volume in a portion of the autistic population. Possible origins for this localized cerebral abnormality include early-onset altered development and late-onset progressive atrophy.

Adolescent↗

PubMed1989

[Clinical study on the relationship between chewing movements and temporomandibular joint abnormalities].

Chewing movements are accomplished by the harmonious function of the stomatognathic system. Therefore, TMJs play important roles in chewing movements. Recently, significant findings on TMJ abnormalities have been obtained from many studies. However, the relationship between chewing movements and TMJ abnormalities remains unclear. The purpose of this study was to examine how TMJ abnormalities were reflected in chewing movements. Incisor point movements during chewing (chewing pattern) were investigated in 150 abnormal and 25 normal subjects using Sirognathograph Analysing System. Abnormal subjects were composed of 45 patients with anterior disk displacement with reduction (reciprocal click), 20 patients with anterior disk displacement without reduction (closed lock), 50 patients with osteoarthrosis and 35 patients with MPD syndrome. Analysis of condylar movements during chewing were also performed in 9 normal and 20 abnormal subjects. The results were as follow; 1. Subjects with TMJ abnormalities tended to show abnormal chewing patterns when chewing at their non-abnormal sides. 2. TMJ abnormality of each different type tended to show its respective characteristic chewing pattern. 1) Subjects with osteoarthrosis and reciprocal click without condylar posterior dislocation tended to show deviation of the turning point to the non-chewing side, with a convex opening path in the frontal plane and a lack of anteroposterior width in the sagittal plane. This finding was associated with the limitation in movement of the abnormal-side condyle. 2) Subjects with reciprocal click with condylar posterior dislocation tended to show a concave opening path and reversed or cross-over patterns in the frontal and horizontal planes, respectively. This finding was associated with the movement of the abnormal-side condyle in the medio-anterior direction during the initial phase of opening. 3) Subjects with closed lock without condylar posterior dislocation tended to show deviation of the turning point to the non-chewing side, with a concave opening path in the frontal plane and a lack of anteroposterior width in the sagittal plane. This finding was associated with the severe limitation in movement of the abnormal-side condyle. 4) Subjects with closed lock with condylar posterior dislocation characteristically tended to show reversed or cross-over patterns in the horizontal plane. This finding was associated with the movement of the abnormal-side condyle in the medio-anterior direction during the initial phase of opening. However, this movement was smaller than that of the reciprocal click. 3. Subjects with MPD syndrome showed chewing patterns similar to those of normal subjects. From the results, close relationships were found between chewing movements and TMJ abnormalities.

Female↗

PubMed1984

Inherited structural cytogenetic abnormalities detected incidentally in fetuses diagnosed prenatally: frequency, parental-age associations, sex-ratio trends, and comparisons with rates of mutants.

Rates of structural chromosome abnormalities were analyzed in 24,951 fetuses studied prenatally in which there were no grounds to suspect an inherited abnormality. In about one in 200 prenatal cytogenetic diagnoses, an unexpected structural abnormality was found. The observed rate was 5.3 per 1,000, of which 1.7 per 1,000 were unbalanced and 3.6 per 1,000 balanced. The rate of inherited abnormalities was 3.1-3.7 per 1,000 (0.4-0.9 per 1,000 for unbalanced abnormalities and 2.6-2.8 per 1,000 for balanced abnormalities). The rate of mutants in this series was, by contrast, 1.6-2.2 per 1,000 (0.8-1.2 per 1,000 for unbalanced abnormalities and 0.8-1.0 per 1,000 for balanced abnormalities). The rate of balanced Robertsonian translocation carriers was 0.6 per 1,000 (about 0.25 per 1,000 for mutants and 0.35 per 1,000 for inherited abnormalities), and for other balanced abnormalities, 3.0 per 1,000 (about 0.6 per 1,000 for mutants and 2.4 per 1,000 for inherited abnormalities). The rates of unbalanced Robertsonian translocations was about 0.1 per 1,000, almost all of which were mutants. For supernumerary rearrangements, the rate was 0.9 per 1,000 (about 0.4 per 1,000 inherited and 0.5 per 1,000 mutant). The rates of all unbalanced (nonmosaic) inherited abnormalities (4.0-5.2 per 10,000) were intermediate between higher rates estimated in all conceptuses (9.1-15.8 per 10,000) and rates observed in newborns (1.5-2.5 per 10,000). This trend is probably attributable to fetal mortality associated with unbalanced rearrangements. The rates of balanced (nonmosaic) inherited abnormalities (26.0-28.0 per 10,000), however, were considerably higher than the rates in all conceptuses (13-16.7 per 10,000) or in all live births (12.2-16.0 per 10,000). The major difference was in the rate of inversions. The use of "banding" methods in the studies of amniocentesis but not in most of the live births or abortus studies probably contributes to at least some of these differences. One trend in parental age among the inherited abnormalities was noteworthy. Paternal age was elevated for inherited balanced reciprocal structural abnormalities of paternal origin but not of maternal origin. With regard to sex ratio, there was a greater proportion of females than males among the unbalanced rearrangements both inherited and mutant. There was no obvious sex difference among the balanced rearrangements.

Adult↗

PubMed1999

Utility of minor ultrasonographic markers in the prediction of abnormal fetal karyotype at a prenatal diagnostic center.

OBJECTIVE: This study was undertaken to assess the value of minor ultrasonographic markers in predicting significant karyotypic abnormalities. STUDY DESIGN: A total of 2743 fetuses (14-24 weeks' gestation) prospectively underwent a detailed ultrasonographic survey before genetic amniocentesis. Criteria for 8 minor ultrasonographic markers were established. Odds ratios for significant karyotypic abnormalities in the presence of minor ultrasonographic markers were calculated with the chi(2) and Fisher exact tests. RESULTS: Of the fetuses, 14.6% had a single minor ultrasonographic marker, 2.1% had >/=2 minor ultrasonographic markers, and 2.7% had >/=1 major ultrasonographic abnormality. One hundred four fetuses (3.8%) had an abnormal karyotype. Compared with a normal ultrasonographic examination result a single minor ultrasonographic marker increased the risk of karyotypic abnormality 5.7-fold (95% confidence interval, 3.5-9.3), whereas multiple minor markers increased the risk of an abnormal karyotype 12-fold (95% confidence interval, 5.5-26.5). When they were identified ultrasonographically in isolation, echogenic bowel, 2-vessel umbilical cord, echogenic intracardiac foci, choroidal separation, and choroid plexus cysts were statistically associated with an abnormal karyotype. When minor markers were identified in clusters of >/=2, echogenic bowel, short femur, 2-vessel umbilical cord, echogenic intracardiac foci, and mild ventriculomegaly were significantly predictive of karyotypic abnormality. With respect to the a priori aneuploidy risk of 1:26 and the a priori Down syndrome risk of 1:50, a normal ultrasonographic examination result reduced the risks to 1:67 and 1:120, respectively. The use of minor ultrasonographic markers in addition to major ultrasonographic abnormalities increased the detection of karyotypic abnormality from 27.9% to 68.3%. For trisomy 21 the sensitivity rose from 16.4% to 67. 3%. CONCLUSIONS: Significant karyotypic abnormality risk assessment by ultrasonography was greatly enhanced by the addition of minor ultrasonographic markers. Further, clusters of minor ultrasonographic markers greatly increased the likelihood of karyotypic abnormality compared with a single minor marker. A completely normal ultrasonographic examination result reduced the risk of an abnormal karyotype by 62%. Inclusion of minor ultrasonographic markers in the genetic sonogram in a high-risk population will allow the detection of 68% of fetuses with karyotypic abnormalities with a false-positive rate of 17%.

Adult↗

PubMed1993

Significance of abnormal diploid DNA histograms in localized prostate cancer and adjacent benign prostatic tissue.

To clarify the relationship of DNA ploidy to tumor grade and volume, 32 clinical Stage B prostate cancers, with low and high Gleason scores and small and large tumor volumes, were compared with adjacent histologically normal prostate tissue and with samples from benign prostatic hyperplasia (BPH). All 22 samples from benign glands were diploid, with 2.7 +/- 1.2% tetraploid (4C) cells. Samples from cancer-bearing glands were considered diploid (normoploid) if they had a major diploid (2C) peak and a small 4C peak with the percentage of cells falling within 3 standard deviations of the figure found for BPH. Abnormal ploidy included abnormal diploid (6.3-14.9% 4C), tetraploid (> or = 15% 4C), and aneuploid samples (peaks not at 2C or 4C). Abnormal DNA ploidy was found to be related to tumor volume. All five tumors smaller than 0.4 cm3 and their adjacent benign tissue were normoploid; however, 10 of 13 cancers with volumes of 0.4-1 cm3 had abnormal ploidy (9 abnormal diploid, 1 tetraploid) and 6 of 9 of the adjacent benign tissue samples also were abnormal diploid. All larger tumors (> 1 cm3) showed abnormal ploidy (7 abnormal diploid, 3 tetraploid, 5 aneuploid). For large tumors, abnormal ploidy was present in 10 of 13 of the adjacent benign areas (8 abnormal diploid, 2 benign areas that were clearly aneuploid). Abnormal diploid cancers are intermediate forms between diploid and tetraploid tumors, as defined above. Although they have fewer 4C cells than tetraploid cancers, they have equivalent numbers of hypertetraploid cells (BPH: 1.3 +/- 0.9%; abnormal diploid: 10.8 +/- 5.4%; tetraploid: 11.1 +/- 6.8% hypertetraploid cells). Thus, the authors propose that abnormal diploid cancers represent an early stage in ploidy progression. DNA ploidy abnormalities also occur in benign prostatic tissue adjacent to many prostate cancers, consistent with the concept that human prostatic cancer is a field-change disease.

Aneuploidy↗

PubMed2025

Accurate identification of abnormal ploidy using an artificial intelligence model in preimplantation genetic testing.

STUDY QUESTION: Can ultra-low-coverage whole-genome sequencing (ulc-WGS) accurately identify abnormal ploidy during preimplantation genetic testing (PGT)? SUMMARY ANSWER: The artificial intelligence (AI)-based PGT-Plus model demonstrates high accuracy in ploidy detection, offering a cost-effective solution that enhances clinical utility of PGT. WHAT IS KNOWN ALREADY: The predominant PGT for aneuploidy can identify chromosomal aneuploidies but cannot determine ploidy status. Transferring embryos with ploidy abnormalities can result in miscarriage and molar pregnancy. On the other hand, in ART, fertilization is assessed by morphological pronuclear assessment at the zygote stage. However, it has a low specificity in the prediction of abnormal ploidy status and embryos deemed abnormally fertilized can yield healthy pregnancies. Accurately identified abnormal ploidy in PGT-A can resolve current limitations and expand the utility range of PGT-A. Several studies have identified ploidy abnormalities; however, they were mainly based on single-nucleotide polymorphism (SNP) arrays or needed to combine additional targeted-next-generation sequencing (NGS) information. Studies based on ulc-WGS remain scarce. STUDY DESIGN SIZE DURATION: The study consisted of two stages: methodology establishment and validation. An AI model, named PGT-Plus, was developed using 653 samples with known ploidy status, which was further validated using 792 different ploidy status samples. In the clinical application stage, the approach was used to analyse the ploidy status of 19 103 normally fertilized PGT blastocysts and 140 single pronucleus (1PN)-derived blastocysts collected between May 2022 and December 2023. All blastocysts were tested using trophectoderm biopsy and NGS. PARTICIPANTS/MATERIALS SETTING METHODS: The methodology is based on the ulc-WGS data. First, based on samples with known ploidy status: the heterozygosity rate of high-frequency biallelic SNPs, the likelihood ratio (LLR) of alleles was calculated under different assumptions ('both parental homologs' [BPH] from a single parent, 'single parental homolog' [SPH] from each parent, disomy, and monosomy) by leveraging allele frequencies and linkage disequilibrium (LD) measured in the 1000 genomes project database. Twenty-three continuous candidate features derived from heterozygosity rates and LLRs of chromosomes or selected windows were included to establish the ploidy prediction AI model. Gini importance analysis and multicollinearity mitigation was performed for feature selection, then the performance of Random Forest (RF), Support Vector Machine (SVM), and Logistic Regression for modelling was compared. Subsequently, the parameter optimization was performed based on the RF model. Ploidy constitution concordance was evaluated in known ploidy status samples. The frequency of abnormal ploidy in normal fertilized PGT blastocysts and 1PN-derived blastocysts (including conventional IVF and ICSI) was evaluated. MAIN RESULTS AND THE ROLE OF CHANCE: Eleven features were collected for model architecture compared to SVM and Logistic Regression; RF achieved superior performance for ploidy detection. The AI model achieved an AUC of 1 for genome-wide-uniparental diploidy (GW-UPD), 1 for triploidy, and 0.99 for diploidy. For the 792 validation samples, 99.5% of samples were successfully detected using the AI model, and the model showed 100% accuracy for ploidy classification. In the clinical application stage, out of 19 103 PGT samples, 19 069 were successfully analysed using the model, with 110 (0.57%) identified as having abnormal ploidy embryos. Among these, 12.7% (14/110) were identified as GW-UPD, and 87.3% (96/110) were triploid. Among 5563 diploid blastocysts transferred, 3478 clinical pregnancies were achieved. Subsequent ploidy analysis was performed for 217 spontaneous abortion and 935 prenatal diagnostic samples, and no abnormal ploidy was identified. Furthermore, of the 140 1PN embryos tested, 40 (28.6%) exhibited GW-UPD, 3 (2.1%) exhibited triploidy, and 97 (69.3%) were determined to be biparental and normally fertilized. Among the 97 biparental embryos, 46 were diploid, 11 were mosaic, and 40 were aneuploid. In terms of the insemination pattern, the percentage of abnormal ploidy in ICSI was significantly higher than in conventional IVF (P < 0.01, 37.1% vs. 2.9%, respectively). With full informed consent, 20 patients without euploidy from normal fertilization chose 1PN-derived biparental and diploid blastocysts to transfer, resulting in 10 clinical pregnancies and 9 ongoing pregnancies. LARGE-SCALE DATA: N/A. LIMITATIONS REASONS FOR CAUTION: Some rare ploidy abnormalities, such as polyploidy with an equal number of identical sets of chromosomes and ploidy mosaicism cannot be accurately identified. Moreover, the origin of abnormal ploidy was not identified due to the unavailability of DNA from both parents. WIDER IMPLICATIONS OF THE FINDINGS: The PGT-Plus AI model provides a ploidy evaluation method based on the conventional PGT-A data and integrates directly into standard PGT-A workflows. Clinical utility results suggest that the model is a valuable tool for identifying embryos with abnormal ploidy in PGT-A and rescuing normal diploid embryos from abnormally fertilized embryos. These findings demonstrate that PGT-Plus significantly enhances the diagnostic accuracy of PGT. STUDY FUNDING/COMPETING INTERESTS: This study was supported by grants from Major Scientific Program of CITIC Group (No. 2023ZXKYB34100, to Ge.L.), Hunan Provincial Grant for Innovative Province Construction (2019SK4012), Hunan Xiangjiang New District (Changsha High-tech Zone) key core technology research project in 2023, and Science Foundation of Hunan Province (Grant 2023JJ30422). All authors declared no conflicts of interest..

artificial intelligence↗

PubMed1978

Scarcity of minor EEG abnormalities during the first two years of life.

This EEG study is based upon pediatric material (0--5 years) of an institution for handicapped children (983 records, 798 children) and a teaching hospital (956 records, 643 children). In records read as abnormal, stress was laid on the degree of abnormality. A grading system of abnormality was consistently employed and facilitated the quantification of EEG abnormalities. The following grades were used: minimally abnormal, slightly abnormal, moderately abnormal, abnormal and very abnormal. The age of the children was broken down as follows: 0--3 months, 4--6, 7--9, 10--12, 13--15, 16--18, 19--21, 22--24, 25--30, 31--36, 37--42, 43--48, 49--54 and 55--60 months. It was found that minor EEG abnormalities (minimally to moderately abnormal) were scarce in the age range from 0--21 months. The rariety of such minor abnormalities proved to be statistically highly significant. A breakdown into epileptic and non-epileptic conditions did not yield much additional information. This could be due to a limited number of EEG responses (with lack of fine intermediate nuances of abnormality) to cerebral impairment below the age of 21 months. It is also possible, however, that further progress in the field of clinical-electrical correlations can demonstrate the mildly abnormal character of certain patterns (hitherto regarded as normal).

Age Factors↗

PubMed2001

Relationship of flumazenil and glucose PET abnormalities to neocortical epilepsy surgery outcome.

BACKGROUND: Cortical areas showing abnormal glucose metabolism and [(11)C]flumazenil (FMZ) binding are commonly seen on PET scans of patients with intractable partial epilepsy, but it is unclear whether these must be totally resected to achieve seizure control. OBJECTIVE: To analyze whether the extent of cortex showing 2-deoxy-2-[(18)F]fluoro-D-glucose (FDG) or FMZ PET abnormalities correlates with the outcome of resective epilepsy surgery. METHODS: Cortical FDG and FMZ PET abnormalities in 15 young patients (mean age, 12.2 +/- 7.0 years) with intractable partial epilepsy of neocortical origin were marked as regions with abnormal asymmetry using an objective semiautomated software package. These marked regions were then projected and measured on the brain surface reconstructed from the coregistered high-resolution MRI. Following cortical resection, the size of nonresected cortex with preoperative PET abnormalities was also measured (calculated separately for marked areas in the lobe of seizure onset as defined by long-term video EEG monitoring, and in remote cortical areas). Extent of preoperative PET abnormalities and postoperative nonresected cortex abnormalities on PET were correlated with outcome scores. RESULTS: Large preoperative FMZ PET abnormalities were associated with poor outcome (r = 0.57; p = 0.025). Larger areas of nonresected cortex with preoperative FMZ PET abnormalities in the lobe of seizure onset were also associated with worse outcome in the whole group (r = 0.66; p = 0.007) as well as in patients with extratemporal resection (r = 0.73; p = 0.007), and in those with no lesion on MRI (r = 0.60; p = 0.049). Patients with seizure-free outcome had significantly smaller nonresected cortex with preoperative FMZ PET abnormalities than those who continued to have seizures (p = 0.022). No significant correlations between nonresected FDG PET abnormalities and surgical outcome were found. CONCLUSIONS: Extensive cortical abnormalities on FMZ PET predict poor outcome in neocortical epilepsy surgery. Resection of FMZ abnormalities in the lobe of seizure onset is associated with excellent outcome even in the absence of a structural lesion. In contrast, although FDG PET abnormalities regionalized the epileptogenic area, their size was not related to the extent of epileptogenic tissue to be removed.

Adolescent↗

PubMed1999

Cranial ultrasound abnormalities identified at birth: their relationship to perinatal risk and neurobehavioral outcome.

OBJECTIVES: Minor cranial ultrasound abnormalities, such as mild ventricular enlargement, choroid plexus cysts, and subependymal cysts, have been identified in 3% to 5% of the newborn population. Although clinicians generally consider these abnormalities to be insignificant for the outcome of the newborn, few convincing data have been published to support this optimism. The objectives of this study were to identify potential risk factors associated with the identification of cranial ultrasound abnormalities at birth and to determine if the abnormalities were related to neurobehavioral sequelae in the newborn. METHODS: Three hundred eight women were enrolled in this prospective, longitudinal maternal-infant health and development study either at the time they entered the public health care system for prenatal care or at delivery if they had no prenatal care. Each woman participated in an in-depth psychosocial interview at the end of each trimester of pregnancy. Retrospective chart review by experienced medical personnel was used to compile data for the Hobel perinatal risk score for each study participant after delivery. Offspring underwent cranial ultrasound evaluation, the Amiel-Tison Neurologic Assessment, and the Brazelton Neonatal Behavioral Assessment Scale within 96 hours of birth by experienced examiners blinded to any maternal-infant history. RESULTS: Of the 308 women originally enrolled in the study, 301 delivered living infants. Of these, 266 infants (88%) underwent a cranial ultrasound evaluation and are the subject of this article. For the purposes of the current study, infants were divided into those with normal (n = 239) and those with abnormal (n = 27) ultrasound results. Abnormal ultrasound results included the following lesions: subependymal cyst (n = 13); mild ventricular enlargement (n = 6); choroid plexus cysts (n = 3); a combination of cysts and increased ventricular size (n = 2); a 7-mm midline cyst in the superior posterior portion of the third ventricle (n = 1); subependymal hemorrhage and ventricular enlargement (n = 1); and increased ventricular size, subependymal hemorrhage and cysts, and two small, right thalamic calcifications (n = 1). There were no significant differences between those with an abnormal ultrasound and those with a normal ultrasound for birth weight, length, gestational age, rate of prematurity, frequency of nulliparity, or frequency of small for gestational age infants. However, infants with an abnormal ultrasound had a significantly smaller mean head circumference than those with a normal ultrasound (34.5 +/- 1.9 cm vs 33.7 +/- 1.9 cm). The infants with an abnormal ultrasound had a higher median prenatal (50 vs 45), neonatal (14 vs 8), and total (94 vs 77) Hobel risk score but not a higher labor-delivery score. There were no significant differences when these groups were compared on additional risk factors not included in the Hobel scoring system such as race and socioeconomic status. In addition, mothers who used a greater number of drugs during the first trimester of pregnancy were more likely to have an infant with an abnormal ultrasound at birth such that the probability of having an abnormal ultrasound rose to 22% by the time the pregnant women were using four drugs. Neurologic examinations revealed no differences between the infants with normal and abnormal ultrasounds. There were also no group differences for five of the seven Brazelton cluster scores, the excitable or depressed clusters, or eight of the nine qualifier scores. However, infants with abnormal ultrasounds performed significantly better on the habituation (7.3 +/- 0.8 vs 6.6 +/- 1.5) and autonomic regulation (6.5 +/- 0.8 vs 6.0 +/- 1.0) clusters but more poorly on the cost of attention qualifier score (4.9 +/- 1.2 vs 5.5 +/- 1.2) on the Brazelton Neonatal Behavioral Assessment Scale. CONCLUSION: Infants with an abnormal cranial ultrasound at birth had higher perinatal risk scores. (ABSTRACT TRUNCATED)

Brain Diseases↗

PubMed2005

Trisomies and other chromosome abnormalities detected after positive sonographic findings.

OBJECTIVE: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy. STUDY DESIGN: The study investigated chromosome abnormalities detected in cases with prior abnormal ultrasoundfindings. During a 10-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The intervention was genetic amniocentesis in 1619 cases and chorionic villus sampling in 288. RESULTS: Karyotyping revealed 103 cases (5.4%) of chromosome abnormalities. Abnormalities with subcutaneous edema were examined: abnormal karyotype was found in 20% of cases with nonimmune hydrops, 48.1% of cases with cystic hygroma and 53.8% of cases with nonimmune hydrops and cystic hygroma together, 8.3% of cases with nuchal edema in the first trimester and 5.5% in the second trimester. The incidence of chromosome abnormalities in cases of cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart, isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings, the incidence of chromosome abnormalities was 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence of chromosome abnormalities was 1%. In cases of bilateral pyelectasis or pyelectasis associated with other anomalies, the incidence was 3%. In terms of anomalies of the abdominal wall and abdomen, the incidence of association with chromosome abnormalities was 9.5% in cases of omphalocele, 11.8% in cases of duodenal atresia and 5.7% in cases of echogenic bowel. In cases of short femur and humerus the rate of abnormal karyotypes was 16%. CONCLUSION: Ultrasound plays an important role in prenatal diagnosis. In cases of positive ultrasound findings, karyotyping is reasonable.

Amniocentesis↗

PubMed2003

Risk of congenital abnormalities in children born to women with ulcerative colitis: a population-based, case-control study.

OBJECTIVES: It has recently been suggested that maternal ulcerative colitis is associated with an almost 4-fold increased risk of congenital abnormalities in offspring. We therefore examined the risk of congenital abnormalities in children born to women with ulcerative colitis. METHODS: This was a case-control study within the Hungarian Case Control Surveillance of Congenital Abnormalities, 1980-1996, based on 22,843 newborn children or fetuses with congenital abnormalities and 38,151 children without any detected congenital abnormalities (the control group). RESULTS: Seventy-one pregnant women (0.3%) had ulcerative colitis in the case group and 95 (0.2%) in the control group. The adjusted overall risk for having a child with congenital abnormalities in women with ulcerative colitis was OR = 1.3 (95% CI = 0.9-1.8). The risk of limb deficiencies, obstructive urinary congenital abnormalities, and multiple congenital abnormalities was OR = 6.2 (95% CI = 2.9-13.1), OR = 3.3 (95% CI = 1.1-9.5), and OR = 2.6 (95% CI = 1.3-5.4), respectively. No association was found for cleft lip with or without cleft palate or cardiovascular defects. CONCLUSIONS: We found no significantly increased overall risk of congenital abnormalities in children born to women with ulcerative colitis. However, our results indicate an increased risk of some selected congenital abnormalities (limb deficiencies, obstructive urinary congenital abnormalities, and multiple congenital abnormalities). More data are needed to determine whether the association between maternal ulcerative colitis and an increased risk of certain congenital abnormalities is causal or is influenced by bias.

Abnormalities, Multiple↗

PubMed2006

Clinical feasibility of free-breathing, gadolinium-enhanced magnetic resonance angiography for assessing extracardiac thoracic vascular abnormalities in young children with congenital heart diseases.

OBJECTIVE: Congenital heart diseases in pediatric patients are associated with a wide variety of extracardiac thoracic vascular abnormalities. This study analyzed the value of gadolinium-enhanced magnetic resonance angiography during quiet free breathing for assessing extracardiac thoracic vascular abnormalities in young children with congenital heart diseases. METHODS: Fifty-three children with congenital heart diseases (age range, 1 day-40 months; mean, 10.9 months) associated with extracardiac thoracic vascular abnormalities who had undergone both free-breathing, gadolinium-enhanced magnetic resonance angiography and cardiac catheterization, surgical intervention, or both within 2 weeks were reviewed. Diagnostic findings on gadolinium-enhanced magnetic resonance angiography among patients grouped according to 3 major conditions of conotruncal abnormalities (n = 33), aortic or venous abnormalities (n = 11), and pulmonary vascular abnormalities (n = 9), as well as associated extracardiac thoracic vascular abnormality findings, were compared with findings made by using cardiac catheterization, surgical intervention, or both. RESULTS: Extracardiac thoracic vascular abnormality findings on gadolinium-enhanced magnetic resonance angiography were similar to those on catheterization, surgical intervention, or both in patients with conotruncal abnormalities (124 vs 127, P = .083), aortic or venous abnormalities (36 vs 33, P = .083), and pulmonary vascular abnormalities (24 vs 25, P = .317). The overall sensitivity of gadolinium-enhanced magnetic resonance angiography for detection of these lesions identified by means of catheterization, surgical intervention, or both was 97.9%. However, gadolinium-enhanced magnetic resonance angiography revealed 11 additional extracardiac thoracic vascular abnormalities that were not found on cardiac catheterization. The kappa coefficient for the correlation of image quality and diagnostic value of gadolinium-enhanced magnetic resonance angiography by using a 4-point-scale (1 = nondiagnostic to 4 = excellent) assessed by 2 independent reviewers was excellent (mean score = 3.66), with superb interobserver agreement (kappa = 0.727-0.874). CONCLUSIONS: Free-breathing, gadolinium-enhanced magnetic resonance angiography is clinically feasible for detailed anatomic delineation and treatment planning of various extracardiac thoracic vascular abnormalities in young children with congenital heart diseases.

Cardiovascular Abnormalities↗

PubMed2006

Birth characteristics of different ocular congenital abnormalities in hungary.

AIMS: The aim of the study was to estimate the prevalence at birth of different ocular congenital abnormalities and to describe their birth characteristics in Hungary. METHODS: Two data sets were evaluated: the national-based Hungarian Congenital Abnormality Registry and the Hungarian Case-Control Surveillance of Congenital Abnormalities which include cases with ocular abnormalities and patient controls with other (non-ocular) congenital abnormalities, and population controls without abnormalities from the National Birth Registry. RESULTS: Seven hundred twelve cases were found with ocular abnormalities in the data set of the Hungarian Congenital Abnormality Registry (2.62 per 10,000 live births), while that of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 314 cases with ocular defects among 2.7 million live births in Hungary between 1980 and 2002. There was an obvious underascertainment and/or notification of cases with ocular defects because an extra effort to ascertain all cases with ocular abnormalities resulted in a birth prevalence of 6.31 per 10,000 live births in 1999. The main birth characteristics of cases were male excess, shorter mean gestational age and smaller mean birth weight with a larger proportion of preterm birth and low birthweight. CONCLUSIONS: Earlier diagnosis of ocular abnormalities is necessary with a more complete notification of these cases to the Hungarian Congenital Abnormality Registry. The birth characteristics of cases with ocular abnormalities may have some associations with the origin of ocular defects; therefore, these variables will require further studies in case-control approach.

Birth Weight↗

PubMed1981

Classification and registration of multiple congenital abnormalities.

The data processing of multiple congenital abnormalities is demonstrated in the Hungarian Surveillance of Congenital Anomalies. Specified dysmorphic syndromes and CA-associations are registered on the basis of notification. Unspecified multiple congenital abnormalities are evaluated on the basis of notified abnormalities. First, a distance-diagnosis is being tried concerning some specified dysmorphic syndromes and CA-associations. Second, the alive babies with unspecified multiple abnormalities are referred to the regional multiple abnormality centre while a detailed post-mortem description is requested from the stillborns and infant deaths with multiple abnormalities. Third, the remaining unspecified congenital abnormalities are divided into 4 categories (obvious, important, dubious and minor) and into 40 groups. Babies with two abnormalities are annually compiled in one table. Babies with three abnormalities are summarized according to the so-called "cardinal" abnormalities in different tables. Finally, babies with four or more abnormalities are listed one by one with regard to the leading abnormality in another table. This classification system helps - among other - to recognize known and new syndromes and CA-associations, as well as to monitor a cluster of specific combinations of congenital abnormalities.

Abnormalities, Multiple↗

PubMed2005

Bone marrow abnormalities on magnetic resonance imaging are associated with type II collagen degradation in knee osteoarthritis: a three-month longitudinal study.

OBJECTIVE: Using radiography to assess the efficacy of a disease-modifying osteoarthritis (OA) drug on joint structure is challenging. Subchondral bone marrow abnormalities determined by magnetic resonance imaging (MRI) and urinary excretion of C-terminal crosslinking telopeptide of type II collagen (CTX-II) have recently been shown to be predictors of radiographic progression in patients with knee OA, suggesting that these may represent valuable biomarkers with increased sensitivity compared with findings on radiography. The aims of this investigation were to analyze, in patients with knee OA, whether the values associated with these 2 OA biomarkers can change within 3 months, and to investigate the relationships between bone marrow abnormalities and CTX-II. METHODS: Knee MRI scans were obtained in 377 patients with painful knee OA (76% women, mean age 63 years, mean disease duration 6.6 years) at both baseline and 3 months. The femoral and tibial condyles and the patella were divided into 8 sites for the scoring of bone marrow abnormalities. A bone marrow abnormality was defined as an area of increased signal on T2-weighted images of the subchondral bone. All scans were reviewed centrally and scored by a single trained radiologist using a validated 4-point scoring method. Fasting urine and serum samples were also collected from all patients at baseline, month 1, month 2, and month 3, in order to measure the levels of urinary CTX-II and serum CTX-I, a biochemical marker of bone resorption. RESULTS: At baseline, 82% of patients had MRI evidence of bone marrow abnormalities. Bone marrow abnormality scores correlated significantly with CTX-II levels (P < 0.0001). Within 3 months, the bone marrow abnormality score decreased in 37 patients (9.8%), increased in 71 patients (18.8%), and did not change in the majority of patients (71.4%). Patients with baseline urinary CTX-II levels in the highest tertile had a relative risk of 2.4 (95% confidence interval 1.1-5.0) of worsening bone marrow abnormalities at 3 months compared with patients with levels in the lowest tertile, after adjustment for age, sex, and body mass index. In patients who showed a decrease in the bone marrow abnormality score at 3 months, urinary CTX-II levels decreased significantly (mean -75 ng/mmole creatinine), whereas levels increased (mean +23 ng/mmole creatinine) in patients showing an increase in the bone marrow abnormality score (P = 0.01 between the 2 groups). No significant association between bone marrow abnormalities and serum CTX-I was observed. CONCLUSION: In patients with painful knee OA, bone marrow abnormalities on MRI can change within only 3 months in approximately 30% of patients. Reduction in the extent of bone marrow abnormalities is associated with a decrease in cartilage degradation.

Biomarkers↗

PubMed1992

Recurrent abnormalities of chromosome bands 10q23-25 in non-Hodgkin's lymphoma.

Many nonrandom chromosome abnormalities have been associated with non-Hodgkin's lymphomas (NHL). Some of these are nonspecific changes seen in many different histologic subtypes. We describe a series of abnormalities of chromosome bands 10q23-25 seen in 159 consecutive NHL patients with abnormal cytogenetic findings. The proportion of karyotypes with abnormalities of 10q varied from 3% among the immunoblastic lymphomas to 67% in the diffuse large cleaved cell lymphomas. Seventeen (10.7%) had abnormalities of 10q23-25. All but one of these were B-cell tumors. The abnormalities consisted of six deletions and 11 translocations. Sixteen of the 17 patients had the 10q abnormality when cells were first karyotyped. The remaining patient acquired the 10q abnormality in the third of a series of biopsies. In the follicular histologic subtypes [follicular small cleaved cell (FSC), follicular mixed small cleaved and large cell (FM), and follicular large cell noncleaved (FL-NC)], abnormalities of 10q were found in nine patients, all in association with abnormalities of 14q32. Seven of these were associated with the t(14;18)(q32;q21). Overall, 10q23-25 abnormalities were observed in 11.9% (8/67) of low-grade [small lymphocytic (SL), FSC, and FM] lymphoma cases. DNA was available from five patients with abnormalities of 10q and was probed for rearrangements with the HOXII (TCL3) oncogene probe. As expected, we did not find such rearrangements in these five patients with B-cell tumors. Abnormalities of 10q23-25 have been reported previously in NHL but not at this frequency.

Blotting, Southern↗