[Clinical picture of multiple abnormalities in a patient with a 49, XXXXY pattern].
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Abnormalities, Multiple↗
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[Multiple abnormalities of the sex organs in an adolescent].
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Abnormalities, Multiple↗
[Clinical findings in a lamb with congenital multiple abnormalities].
A case of multiple, congenital malformations, with special emphasis on cardiac malformations (atrial- and ventricle septum defect, Ductus Botalli persistens, bilateral ventricle and atrial dilatation) in a lamb are described. Clinical findings, X-ray, ultrasound examination, electrocardio- and phonocardiogram, as well as pathology are discussed.
Abnormalities, Multiple↗
[Multiple abnormalities in a child with male karyotype due to familial partial Xp duplication].
A child with multiple abnormalities and intersexual external genitals is presented. The child has a male karyotype with a partial duplication Xp. Using additionally methods of molecular genetics the SRY-region was detected. We reviewed the only few persons described in the literature with male karyotype and partial duplications Xp. There are similarities in phenotype including sex inversion or intersexual genitals if the duplication is localised in the region Xp 21-->Xp 22. Whether these affected patients represent a new syndrome is a moot point. We also found the aberrant X-chromosome in the mother of the child. In the present pregnancy of the mother there is, therefore, a risk of recurrence.
Abnormalities, Multiple↗
Two cases of multiple abnormalities in testicular and ejaculated bull spermatozoa.
Multiple abnormalities were observed in testicular, epididynal and ejaculated spermatozoa from two bulls. These included acrosomal knobbing, incomplete nuclear condensation and coiled tails. The first two defects are considered to be characteristic of emmission of immature sperm, while the last may be a reflection of the effect of a changing osmotic environment on inherently susceptible cells.
Journal Article↗
Observer performance studies: detection of single versus multiple abnormalities of the chest.
OBJECTIVE: We used receiver operating characteristic (ROC) analysis to compare two methods of evaluating observer performance in detecting an abnormality on chest radiographs. In the first method, the abnormality in question, rib fracture, was one of five investigated, and it was the only one of interest in the second. MATERIALS AND METHODS: Eight experienced observers viewed 117 posteroanterior chest radiographs in two interpretation modes. Fifty-four of these images depicted rib fractures that had been rated as subtle for detection. The likelihood of the presence of a rib fracture was rated as one of five abnormalities in question in one mode and the sole abnormality of interest in the other mode. RESULTS: Six of the observers performed better during the single-abnormality mode, one performed equally well in both modes, and one performed better during the multiple-abnormality mode. The average area under the ROC curves (A(z)) was 0.73 +/- 0.07 for the multiple-abnormality mode and 0.80 +/- 0.04 for the single-abnormality mode. The results were significantly different (p < 0.05). CONCLUSION: Study methodology can significantly affect the results in ROC studies, particularly for abnormalities that may not be perceived as primary or important. The order in which abnormalities appear on a checklist report form may be important.
Area Under Curve↗
[Vertebral abnormalities and radius aplasia in a newborn with multiple abnormalities].
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Abnormalities, Multiple↗
Data analysis for detection and localization of multiple abnormalities with application to mammography.
RATIONALE AND OBJECTIVES: In assessing diagnostic accuracy it is often essential to determine the reader's ability both to detect and to correctly locate multiple abnormalities per patient. The authors developed a new approach for the detection and localization of multiple abnormalities and compared it with other approaches. MATERIALS AND METHODS: The new approach involves partitioning the image into multiple regions of interest (ROIs). The reader assigns a confidence score to each ROI. Statistical methods for clustered data are used to assess and compare reader accuracy. The authors applied this new method to a reader-performance study of conventional film images and digitized images used to detect and locate malignant breast cancer lesions. RESULTS: The ROI-based approach, the free-response receiver operating characteristic (FROC) curve, and the patient-based approach handle the estimation of the false-positive rate (FPR) quite differently. These differences affect the measures of the respective areas under the curves. In the ROI-based approach the denominator is the number of ROIs without a malignant lesion. In the FROC approach the average number of false-positive findings per patient is plotted on the x axis of the curve. In contrast, the patient-based approach mishandles the FPR by ignoring multiple detection and/or localization errors in the same patient. The FROC approach does not lend itself easily to statistical evaluations. CONCLUSION: The ROI-based approach appropriately captures both the detection and localization tasks. The interpretation of the ROI-based accuracy measures is simple and clinically relevant. There are statistical methods for estimating and comparing ROI-based estimates of accuracy.
Breast Neoplasms↗
Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.
An 18 week foetus with multiple system abnormalities was found to have full trisomy 16. This appears to be only the third reported case surviving into mid-gestation; typically, this common aneuploidy dies post-implantation. Similarities exist in the abnormalities found in the three cases suggesting that there is a 'surviving' trisomy 16 phenotype. It is characterised by: absent hemidiaphragm, pulmonary hypoplasia/aplasia, major cardiac defect, small chest, vertebral and rib defects, cystic kidneys, absent gall bladder, multiple spleens and imperforate anus, together with cleft palate, nuchal webbing/cystic hygroma, microcephaly, marked dysmorphic facial features and dorsiflexed great toe.
Abnormalities, Multiple↗
[Congenital "cardio-esophageal" syndromes. Congenital cardiopathies and multiple abnormalities syndromes in the child with esophageal abnormalities].
A case of esophageal stenosis and tracheo-esophageal fistula associated with dextrocardia due to dextrorotation, ventricular septal defect and complete double arotic arch is reported. In 116 cases of esophageal atresia and tracheo-esophageal fistula 9 had an associated cardiac malformation (4 right-sided aortic arch and 4 ventricular septal defects). The possible individualization of multiple abnormality syndromes in which these two types of malformations are associated with others such as vertebral arch defects, limb anomalies, imperforate anus, etc. is discussed. These are so-called "Vater" or "Vactel" syndromes.
Abnormalities, Multiple↗
[Complex rearrangement of chromosomes 3 and 5 in an adolescent with multiple abnormalities].
Cytogenetic studies were performed on a severely mentally retarded adolescent with multiple congenital abnormalities (congenital heart disease, cryptorchidism and infantilism, rocker bottom feet and eye abnormalities). He had a complex rearrangement as a result of three breaks of chromosome 3 and two breaks of chromosome 5, and haphazard reunion of the fragments. This complex rearrangement appears balanced. The loss of very small chromosome fragments is perhaps the cause of the dysmorphia. The possibility of position effect is discussed.
Abnormalities, Multiple↗
Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization.
The tissue non-specific alkaline phosphatase (TNAP) knock-out mouse is a model of infantile hypophosphatasia displaying impaired bone mineralization, epileptic seizures, apnoea, abnormal apoptosis in the thymus, abnormal lumbar nerve roots, and postnatal death. Administration of vitamin B6 suppresses the epileptic seizures in TNAP-/- mice. This paper examines to what extent the diverse abnormalities seen in these mice are due to impaired utilization of vitamin B6, using two complementary approaches: administration of vitamin B6 to TNAP null mice and deprivation of vitamin B6 in wild-type and TNAP heterozygous mice. Administration of exogenous pyridoxal HCl delayed the onset of epileptic attacks and increased the life span of TNAP-/- mice. The episodes of apnoea ceased and the appearance of lumbar nerve roots improved, but hypomineralization and accumulation of osteoid continued to worsen with age. Control mice fed a vitamin B6-depleted diet developed epileptic seizures indistinguishable from those observed in TNAP-/- mice, abnormal apoptosis in the thymus, and thinning of the nerve roots, but showed no evidence of bone mineralization abnormalities. Depletion of vitamin B6 did not affect the ability of primary cultures of osteoblasts to deposit bone mineral in vitro. While abnormal metabolism of vitamin B6 explains many of the abnormalities in this mouse model of infantile hypophosphatasia, it is not the basis of the abnormal mineralization that characterizes this disease.
Abnormalities, Multiple↗
Abnormal multiple marker screens are associated with adverse perinatal outcomes in cases of intrauterine growth restriction.
OBJECTIVE: The purpose of this study was to determine if abnormal multiple marker screens (MMS) are associated with adverse perinatal outcomes in intrauterine growth restriction (IUGR) pregnancies. STUDY DESIGN: This was a case control study of IUGR pregnancies (birth weight <10th percentile for gestational age [GA]) delivered in our unit over 6 years. Cases were compared with controls for the association between abnormal MMS and adverse perinatal outcomes (APO). RESULTS: Of the 261 IUGR pregnancies, 39 (16%) had at least 1 APO. An elevated HCG was significantly associated with an APO (OR 2.6, 95% CI 1.1-6.4). A low uE3 was also associated with an APO (OR 5.5, 95% CI 2.2-14). The association between an elevated AFP and APO was not statistically significant (OR 1.6, 95% CI, 0.6-4.6). CONCLUSION: An elevated HCG and low uE3 were associated with APO in cases of IUGR. This information could be useful in identifying a subset of IUGR cases deserving closer surveillance.
Case-Control Studies↗
Acute monocytic leukemia and multiple abnormalities in a child with duplication of 1q detected by GTG-banding and SKY.
Patients with 1q duplication have demonstrated a wide range of multiple congenital abnormalities. Alterations involving this chromosomal region have being described in hematopoietic malignancies and a series of candidate genes that may be associated with neoplasias have been mapped in this region. We describe a case of partial trisomy 1q "syndrome" and acute monocytic leukemia. Cytogenetic study of the bone marrow cells by GTG-banding and spectral karyotyping (SKY) showed dup(1)(q23q44) in all cells analyzed. The dismorphological features with the dup(1q) suggest a constitutional chromosome alteration and the first, in our knowledge, association of a trisomy 1q "syndrome" with AML.
Abnormalities, Multiple↗
Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.
A mentally retarded female child with multiple congenital abnormalities had an abnormal X chromosome and a Y chromosome; the karyotype was interpreted as 46,dup(X)(p21 leads to pter)Y. Prenatal chromosome studies in a later pregnancy indicated the same chromosomal abnormality in the fetus. The fetus and proband had normal female genitalia and ovarian tissue. H--Y antigen was virtually absent in both sibs, a finding consistent with the view that testis-determining genes of the Y chromosome may be suppressed by regulatory elements of the X. The abnormal X chromosome was present in the mother, the maternal grandmother, and a female sib: all were phenotypically normal and showed the karyotype 46,Xdup(X)(p21 leads to pter) with non-random inactivation of the abnormal X. Anomalous segregation of the Xga allele suggests that the Xg locus was involved in the inactivation process or that crossing-over at meiosis occurred.
Abnormalities, Multiple↗
A pooled analysis of karyotypic patterns, breakpoints and imbalances in 783 cytogenetically abnormal multiple myelomas reveals frequently involved chromosome segments as well as significant age- and sex-related differences.
The cytogenetic features (ploidy, complexity, breakpoints, imbalances) were ascertained in 783 abnormal multiple myeloma (MM) cases to identify frequently involved chromosomal regions as well as a possible impact of age/sex. The series included MM patients from the Mitelman Database of Chromosome Aberrations in Cancer and from our own laboratory. Hyperdiploidy was most common, followed by hypodiploidy, pseudodiploidy and tri-/tetraploidy. Most cases were complex, with a median of eight changes per patient. The distribution of modal numbers differed between younger and older patients, but was not related to sex. No sex- or age-related differences regarding the number of anomalies were found. The most frequent genomic breakpoints were 14q32, 11q13, 1q10, 8q24, 1p11, 1q21, 22q11, 1p13, 1q11, 19q13, 1p22, 6q21 and 17p11. Breaks in 1p13, 6q21 and 11q13 were more common in the younger age group. The most frequent imbalances were + 9, - 13, + 15, + 19, + 11 and - Y. Trisomy 11 and monosomy 16 were more common among men, while -X was more frequent among women. Loss of Y as the sole change and + 5 were more common in elderly patients, and - 14 was more frequent in the younger age group. The present findings strongly suggest that some karyotypic features of MM are influenced by endogenous and/or exogenous factors.
Age Factors↗
Multiple abnormalities of ectoglycosyltransferases in cultured fibroblasts from patients with mucolipidosis II: Possible indication for abnormal plasma membrane glycoproteins.
Ectoglycosyltransferase activities were measured in cultured normal and mucolipidosis II fibroblasts using endogenous glycoproteins and glycolipids and whole cells. Nucleotide pyrophosphatase, known to interfere with glycosyltransferases, was completely inhibited with 6 mM 5' AMP. Since preliminary experiments have shown multiple abnormalities of ectoglycosyltransferases in mucolipidosis II fibroblasts (Di Donato, unpublished results), galactosyl (Gal)-and N-acetylglucosaminyl (GluNac)-transferase were studied in further detail in confluent and nonconfluent cultures of normal and patient fibroblasts. Activities of both transferases on glycoproteins were higher in nonconfluent cultures. A 50% reduced activity of Gal-transferase was measured in confluent mucolipidosis II cultures and of GluNac-transferase in nonconfluent mucolipidosis II cultures towards incorporation of sugar precursors into glycoproteins. Substrate saturation kinetics of both transferases in mucolipidosis II fibroblasts revealed an abnormal Km for Gal incorporation into endogenous glycoproteins. Glycosylation of glycolipids in mucolipidosis fibroblasts was normal.
Acetylglucosamine↗
Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation.
Partial duplications of 10p and 13q in association with partial deletions of other chromosome segments have been variously reported. We describe here a female child with multiple congenital abnormalities and combined partial duplications of 10p and 13q resulting from a 3:1 segregation of a maternal t(10;13)(p13;q22). In comparing the phenotypic features of the two chromosome imbalances, the expression of features typical of partial duplication 10p appeared more pronounced.
Abnormalities, Multiple↗