[Lentigines syndrome, multiple].
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Abnormalities, Multiple↗
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[Multiple congenital malformations in a boy with a chromosome abnormality of the group F (46-XY, 20-P), the son of a clinically healthy subject with an analogous chromosome malformation].
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Abnormalities, Multiple↗
Vascular abnormalities in a fetus with multiple pterygia.
We describe a 16-week fetus with a lethal multiple pterygium syndrome and hydrops. No bony abnormalities were noted on radiographic or anatomical examination. A prominent meshwork of dilated, thin-walled vessels was present in the subcutis over the entire body. This abnormal vascularity may have caused pterygium formation and death of the fetus.
Abnormalities, Multiple↗
Bilateral renal agenesis with multiple congenital ocular anomalies.
A 920-g male infant born with features of Potter's syndrome had multiple ocular anomalies. Ocular abnormalities included absence of keratocytes in the inner central corneal stroma, cataract with retention of cell nuclei in the nucleus of the lens, hypoplasia of the ganglion cell and nerve fiber layers of the retina, and absence of nerve bundles in the optic nerve. Other ocular findings including microphthalmos, fetal chamber angle, persistent pupillary membrane , retinal avascularity, and prominent Bergmeister's papilla may have been related to the prematurity of the child.
Abnormalities, Multiple↗
The cervical somatosensory evoked potential (SEP) in the diagnosis of multiple sclerosis.
Abnormalities of the potential evoked by stimulation of the median nerve and recorded over the cervical spine were found in 59% of patients with multiple sclerosis (MS) this proportion increasing to 69% of those in the definite diagnosis category and to 100% in the severely disabled. Abnormalities were often found in the absence of relevant clinical signs and the method appears to be capable of revealing clinically silent plaques. In patients with a single episode of neurological disease, including retrobulbar neuritis, and at least compatible with the onset of MS, the proportion of abnormalities did not rise above 18%. Only prolonged follow-up will permit assessment of the value of this and other evoked potential techniques in the detection of the early case of the disease.
Adolescent↗
Soft-tissue uptake of technetium-99m MDP in multiple myeloma.
Abnormal accumulation of Tc-99m MDP in the lungs and stomach was observed in a patient with multiple myeloma and refractory hypercalcemia. There was no roentgenographic evidence of calcification. At postmortem examination, the presence of amyloid deposits was confirmed in both organs, while the corresponding metastatic calcification was demonstrated only in the gastric mucosa. It seems likely that, in our case, soft-tissue localization of bone-seeking agent was attributable to the presence of amyloid deposits rather than metastatic calcification. No cases showing the combined occurrence of amyloid deposition and metastatic calcification in soft-tissues have previously been demonstrated to concentrate bone-seeking agent.
Amyloidosis↗
Morphology of spermatozoa in infertile men with and without varicocele.
This study was carried out to evaluate the morphology of spermatozoa in infertile men with and without varicocele. A series of 285 ejaculates were fully evaluated for seminal volume, sperm count, motility, and morphology, and classified into fertile (165 subjects), infertile without varicocele (93 subjects) and infertile with varicocele (27 subjects). Sperm morphology was classified by multiple entry criteria and recorded as normal, abnormal with head, midpiece, or tail single anomaly or abnormal with simultaneous multiple abnormalities. Semen volume was almost identical in the three groups. Among the infertile men, sperm count was lower in those having a varicocele, but conversely those with varicocele had a higher percentage of motile spermatozoa, higher percentage of spermatozoa with forward movement and higher sperm velocity. There were higher proportions of spermatozoa with abnormal morphology, total number of anomalies, and multiple anomalies in infertile men, both with and without varicocele, than in fertile men. The percentage of abnormal spermatozoa was higher in infertile men with varicocele than in those without varicocele. The pattern of sperm morphology differed between the infertile and the fertile group, and with the presence or absence of varicocele. In the presence of varicocele, only the incidence of elongated (tapered) forms was significantly increased.
Humans↗
Acute respiratory infections during pregnancy and congenital abnormalities: a population-based case-control study.
Diseases of respiratory system caused by acute infections are among the most common maternal diseases during pregnancy. The objective of the study was to estimate the association between congenital abnormalities and acute respiratory infections during the first trimester of pregnancy. The data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities including 22 843 cases with congenital abnormalities, 38 151 population controls without congenital abnormalities and 834 malformed controls with Down syndrome between 1980 and 1996 was evaluated. 2118 cases with congenital abnormalities (9.3%), 3455 population controls (9.1%) and 92 malformed controls with Down syndrome (11.0%) had mothers with acute respiratory infections. Of 25 different congenital abnormality groups, esophageal atresia/stenosis showed a high adjusted prevalence odds ratios (POR) with 95% confidence interval (CI) for acute respiratory infections during the first trimester of pregnancy in case mothers compared with population controls (3.6, 1.4-9.1) and malformed controls (1.9, 1.0-3.5), respectively. In addition there was an association between medically recorded acute respiratory infections during the first trimester of pregnancy and a higher risk for some other congenital abnormalities, such as posterior cleft palate and multiple congenital abnormalities. In conclusion a possible association between some congenital abnormalities, particularly esophageal atresia/stenosis and maternal acute respiratory infections cannot be excluded due to the interactions of the microbial agents, related drug treatments and last but not least the indirect effect of maternal diseases, such as fever-hyperthermia, hypoxia and dietary deficiency. However, periconceptional multivitamin/folic acid supplementation during the early pregnancy was able to reduce the acute respiratory infection related risk for congenital abnormalities.
Abnormalities, Multiple↗
Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations.
Interstitial duplications of chromosomes 1p are rare, with only 14 cases previously reported in the literature, and those have not revealed a unique syndrome. The phenotypes include multiple congenital abnormalities and both intra- and extra-uterine growth retardation. In general, the patients do poorly and do not survive beyond the age of several months. We report a newborn male with karyotype 46, XY, inv dup(1)(qter--> p34.3::p34.3-->p32.3::34.3-->pter) with multiple congenital abnormalities including congenital heart disease and co-existing portal and pulmonary hypertension. The chromosome 1 origin of the extra material was confirmed with fluorescent in situ hybridization (FISH). Review of the GDB [Human Genome Database, 1990] reveals that the duplicated region includes the locus EDN2 that encodes endothelin-1, a potent vasoconstrictor, making genetic overdosage of this protein a likely etiology of the pulmonary hypertension. The diffuse abnormalities show effects in multiple cell lines and suggest that this region of chromosome 1p could be involved in determining cell migration and/or differentiation during organogenesis.
Abnormalities, Multiple↗
The lethal multiple pterygium syndromes.
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Abnormalities, Multiple↗
Maternal panic disorder and congenital abnormalities: a population-based case-control study.
BACKGROUND: Maternal panic disorder in pregnancy is the most common manifestation of anxiety disorders in Hungary. The association between panic disorder during pregnancy and structural birth defects, i.e., congenital abnormalities, was studied. METHODS: The prevalence of maternal panic disorder in cases with different congenital abnormalities was compared to that of matched controls in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. RESULTS: Of 22,843 cases with congenital abnormalities, 210 (0.9%) had mothers with panic disorder during pregnancy compared to 187 (0.5%) of 38,151 controls (adjusted prevalence odds ratio [POR] 1.6; 95% CI, 1.3-2.0). Specific groups of congenital abnormalities were also assessed versus controls. Cases with isolated cleft lip with or without cleft palate (CL/P) (adjusted POR, 3.4; 95% CI, 1.3-9.0) and multiple congenital abnormalities (adjusted POR, 3.0; 95% CI, 1.2-7.2) were more likely to have had mothers with panic disorder during the study pregnancy. Notably, among mothers with panic disorders, the associations were found only in offspring of untreated mothers. CONCLUSIONS: A higher rate of isolated CL/P and multiple congenital abnormalities may be caused by the direct biological effect of panic disorder or by the interaction of maternal panic disorder and lifestyle factors. Antipanic drug treatment seems to have a protective effect for isolated CL/P and multiple congenital abnormalities. Birth Defects Research (Part A), 2006.
Abnormalities, Multiple↗
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.
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Abnormalities, Multiple↗
Human IgA1 half-molecules: clinical and immunologic features in a patient with multiple myeloma.
Abnormal IgA1 half-molecules consisting of one heavy and one light chain were found in a patient (N.N.) with typical multiple myeloma. The serum and the urine of this patient contained both 7.0S and 3.9S IgA myeloma proteins. The IgA half-molecules (3.9S) were found to have a molecular weight of 59,000 daltons and were composed of one alpha1 chain of about 40,000 daltons and one light chain of 22,000 daltons. Furthermore, enzymatic degradation suggested that the alpha chain of the N.N. half-molecules had a large deletion in its Fc portion. We suggest that its heavy and light chains were probably bound noncovalently, since the interchains connecting the heavy and light chains of these IgA half-molecules were easily dissociated with 1% SDS and 8 M urea. Cytologic studies identified at least two types of myeloma cells, and it is possible that half-molecule IgA production might result from mutation among the myeloma cells producing whole-molecule IgA.
Aged↗
Urologic manifestations of Goldenhar syndrome.
OBJECTIVE: Goldenhar syndrome (oculoauriculovertebral dysplasia) is associated with anomalies in multiple organ systems. Renal abnormalities have also been reported with the complex, but the incidence of associated genitourinary malformations has not been defined. METHOD: We have reviewed our experience with 28 children with Goldenhar syndrome evaluated during the past twelve years. Twenty children underwent imaging evaluation of the urinary tract and 14 (70% of those imaged) children had urinary tract anomalies. RESULTS: The majority of anomalies presented as an incidental finding on a screening ultrasound (8 patients) or during cardiac catheterization (2 patients). Two children presented with urinary tract infection, 1 child presented with renal failure, and another was diagnosed antenatally. The genitourinary anomalies included the following: ectopic and/or fused kidneys (8 patients), renal agenesis (7), vesicoureteral reflux (5), ureteropelvic junction obstruction (2), ureteral duplication (2), and multicystic kidney (1 patient). Four children have undergone surgical intervention. CONCLUSION: Our experience in children with Goldenhar syndrome suggests that the incidence of genitourinary anomalies is higher than previously reported. A screening ultrasound in the neonatal period allows for early intervention in those children with significant urologic abnormalities.
Abnormalities, Multiple↗
Risk of specific congenital abnormalities in offspring of women with diabetes.
AIMS: To assess the extent to which the increased risk of congenital abnormalities seen in women with pre-gestational insulin-treated diabetes mellitus is unspecific or related to the embryology of specific organs. METHODS: Cases with congenital abnormalities were identified in the population-based Hungarian Congenital Abnormality Registry from 1980 to 1996 with two newborn children without congenital abnormality selected from the National Birth Registry as controls. We adjusted for parity, maternal age, and use of antipsychotic drugs. RESULTS: Among cases we found 63/22,843 babies with maternal diabetes compared with 50/38,151 in the control group [adjusted prevalence odds ratio (POR) 2.1; 95% CI 1.5-3.1]. The association was strongest for the following congenital abnormalities: renal agenesis (POR: 14.8; 95% CI, 3.5-62.1), obstructive congenital abnormalities of the urinary tract (POR: 4.3; 95% CI, 1.3-13.9), cardiovascular congenital abnormalities (POR: 3.4; 95% CI, 2.0-5.7), and multiple congenital abnormalities (POR: 5.0; 95% CI, 2.4-10.2). CONCLUSIONS: These data indicate that pre-gestational maternal diabetes is associated with strong teratogenic effects on the kidney, urinary tract, and heart, and strongly associated with multiple congenital abnormalities. We found no material association between diabetes and spinal congenital abnormalities and limb deficiencies.
Abnormalities, Drug-Induced↗
Biochemical abnormalities in patients with multiple chemical sensitivities.
Patients with MCS show numerous physiological and biochemical abnormalities and are generally sicker than a control group of allergic patients. Associated with MCS are mitral valve prolapse, hypothyroidism, autoimmune thyroiditis, specific abnormalities of amino acid and essential fatty acid metabolism, and diminished activity of ESOD and EGPx. Equally prevalent among MCS patients and controls are deficiencies of magnesium and Vitamin B6. Since patients with MCS feel sick almost all of the time, it is likely that some of these abnormalities contribute to their general level of ill health, if not to their sensitivities. It is also possible that these various abnormalities are caused by some unidentified fundamental metabolic or neuroendocrine disturbance that is common to states of hypersensitivity. A provocative finding is the high frequency with which impaired anti-oxidant levels were detected. Erythrocyte activity of SOD was low in 89% and EGPx was low in 48% of MCS patients. Furthermore, 41% showed impaired excretion of essential amino acids, despite a high protein diet, and leucocyte vitamin C was low in the 5 patients not taking vitamin C supplements. Anti-oxidant deficiences may certainly contribute to hypersensitivity to environmental pollutants and toxic chemicals. In fact, treatment with anti-oxidants, including selenium, vitamin C, copper, zinc, and sulfur-containing amino acids was associated with major clinical improvement in 14 (25%) of the patients in the MCS group and with limited relief of symptoms in another 10 (18%). In all patients in whom ESOD or EGPx were repeated, improvement in levels was observed following treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
Adolescent↗
Outcome of fetal urinary tract anomalies associated with multiple malformations and chromosomal abnormalities.
The purpose of this study was to identify prognostic factors and describe the outcome of prenatally detected renal anomalies associated with multiple malformations and chromosomal defects. Forty-one fetuses were included in the analysis. Prenatal ultrasound reports, neonatal records and autopsy information were retrospectively reviewed. Prognostic factors associated with fetal echography and clinical and laboratory findings on admission were studied. Data were analyzed by univariate analysis in which variables associated with adverse outcome were identified by the Chi-square test or Fisher exact test. The abnormalities associated with renal anomalies were divided into three groups: chromosomal defects (21%), previously described syndromes and conditions (24%), and new sporadic conditions (55%). Of 41 children admitted, 30 (76%) died during the perinatal period. The presence of oligohydramnios was significantly associated with an adverse outcome (OR=11, p=0.05). Male gender was a protective factor against death during the perinatal period (OR=0.11, p=0.01). In conclusion, prenatally detected renal anomalies associated with multiple malformations and chromosomal defects had a poor prognosis. The presence of oligohydramnios increased the risk of death, and male gender had a protective role against poor outcome.
Abnormalities, Multiple↗
Burkitt translocation (8;22)(q24;q11) in a patient with multiple myeloma.
The prevalence of chromosomal abnormalities in multiple myeloma (MM) has been difficult to detect by karyotyping primarily because of the low proliferative rate of malignant plasma cells. The reported incidences of abnormal karyotypes range from 24% to 63% in bone marrows obtained from MM patients, with the higher rates being seen in aggressive disease [1-8]. Detection of abnormal karyotypes in MM has been associated with a poor prognosis. We report a MM patient with an 8;22 Burkitt translocation, the first such reported case.
Bone Marrow↗