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PubMed1992

[The state of the immune system in children with congenital abnormalities].

As many as 618 children with different varieties of congenital developmental abnormalities were examined for the status of the immune system. Immunologic studies were carried out in 89 patients. They included the NBT test, determination of the content of T-, B- and O-lymphocytes, IgA, IgM and IgG. Morpho-histological studies of the spleen and thymus were performed according to the data of 529 autopsies. It has been established that 3/4 of cases with congenital developmental abnormalities are characterized by morphofunctional immune deficiency, which is more pronounced in multiple abnormalities (of chromosomal etiology in particular) as well in some systemic abnormalities, largely of the CNS.

Abnormalities, Multiple↗

PubMed2006

[Fraser syndrome. A case report].

Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities. We report a newborn case at day 1 of life who had multiple abnormalities, born from a consanguineous marriage. Clinically, the newborn had an ankyloblepharon on the left side, a cryptophthalmos on the right side, a syndactyly, anorectal abnormalities with ambiguous genitalia, laryngeal stenosis, and ear malformations. TDM of the cranium and orbits and the transfontanel ultrasound were normal. The abdominal ultrasound showed renal abnormalities. Right eye surgery showed a reduced cornea to an opaque thin plate clinging to the iris without an anterior chamber and a nonindividualized eyeball. The authors discuss the morphological abnormalities, the clinical and paraclinical aspects of this syndrome, its multispecialized clinical management, and the importance of prenatal diagnosis.

Abnormalities, Multiple↗

PubMed1993

Biomarker and cytologic abnormalities in women at high and low risk for breast cancer.

Fine needle aspirates (FNA) from 106 high-risk women and 25 low-risk women were evaluated for overexpression of estrogen receptor (ER), epidermal growth factor receptor (EGFR), mutant p53, and HER-2/neu by immunocytochemistry, and for aneuploidy by image analysis. Aspirates were also classified cytologically as normal, apocrine metaplasia, epithelial hyperplasia (EH), or dysplasia. High-risk women were those with a first-degree relative with breast cancer (76%), precancerous breast disease (26%), prior cancer of the contralateral breast (9%), or multiple abnormalities (11%). Low-risk women had none of the above risk factors, nor a prior breast biopsy or clinical evidence of fibrocystic disease. The median 10-year Gail risk for the high-risk group was 4%, compared to 0.7% for the low-risk group. There were significant differences (p < 0.01) between high- and low-risk women in the prevalences of hyperplasia (55% versus 12%), dysplasia (19% versus 0%), aneuploidy (32% versus 0%), overexpressed EGFR (32% versus 4%), and overexpressed p53 (29% versus 4%). The prevalence of multiple biomarker abnormalities was also greater in high-risk than in low-risk women (28% versus 0%; p < 0.01). Four percent (4%) of FNAs from high-risk women with normal cytology, 29% of aspirates with hyperplastic cytology, and 60% of those with dysplasia were associated with two or more biomarker abnormalities. The differences in the prevalence of multiple biomarker abnormalities among various cytologic categories were statistically significant (p = 0.02, normal versus EH; p = 0.02, EH versus dysplasia; p < 0.01, normal versus dysplasia).(ABSTRACT TRUNCATED AT 250 WORDS)

Biomarkers, Tumor↗

PubMed2001

Hypercoagulability: clinical assessment and treatment.

This review emphasizes pathophysiology, clinical features, assessment, and therapy for hypercoagulability. Risk factors that further increase clotting include obesity, recent surgery, pregnancy, and cancer. Clinical examples of coagulation abnormalities may occur from single or multiple abnormalities and include both inherited and acquired defects. Laboratory testing undertaken at the time of acute thrombosis is often inaccurate or difficult to interpret. Individuals are best tested when they are not taking anticoagulants. Treatment of patients with either inherited or acquired abnormalities usually requires heparin compounds followed by warfarin, but the length of therapy has not yet been settled. Asymptomatic individuals with underlying hypercoagulability may not require treatment except in clot-promoting situations such as trauma, pregnancy, recent surgery, or use of venous access devices. The detection of one abnormality may no longer suffice because multiple defects can be found frequently. In patients with clotting and underlying risk factors, such as malignancy, pregnancy, estrogens, or surgery, an assessment for hypercoagulability should be considered.

Antiphospholipid Syndrome↗

PubMed1990

Childhood myelodysplasia: suggested classification as myelodysplastic syndromes based on laboratory and clinical findings.

Fourteen children with a primary myelodysplastic syndrome (MDS) were seen at this center over a 10-year period. Six of the patients, including two pairs of siblings, had a monosomy 7 population in their bone marrow. Seven patients had the clinical and laboratory features of "juvenile chronic myeloid leukemia." Three patients could be considered to have either the monosomy 7 syndrome or "juvenile chronic myeloid leukemia," indicating that these two entities are not mutually exclusive. All patients fulfilled the French-American-British (FAB) criteria for a myelodysplastic syndrome. Clonal chromosomal abnormalities were detected in 13 of the 14 patients, and consistently involved either monosomy 7, multiple abnormalities, and/or multiple clones. Hematopoietic progenitor assays of blood and marrow samples obtained from most patients showed abnormal progenitor frequencies, or differentiation patterns in culture (or both), often affecting the erythroid as well as the granulopoietic lineages. In particular, granulopoietic progenitors from four to six patients in the "juvenile chronic myeloid leukemia" category generated predominantly abnormal appearing macrophage colonies. Clinical outcomes were poor with rapid transformation to acute myeloid leukemia in most patients. All treated patients responded poorly to conventional chemotherapy, although in two cases remission was achieved with intensive therapy and allogeneic bone marrow transplantation. Childhood myelodysplasia includes a group of diseases that are clinically heterogeneous, and current terminology is confused and inconsistent. Until a better understanding of the biologic and molecular basis of these diseases is obtained, it is proposed that the use of the FAB categories developed for adult MDS might help to improve diagnostic precision and therapeutic comparisons.

Adolescent↗

PubMed2006

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malrotation, anterior displacement of the anus, left hemiaplasia of the thyroid and biliary atresia in sibs. The associations of duodenal atresia with intrahepatic and extrahepatic biliary atresia in sibs have been reported, suggesting an autosomal recessive syndrome. However, the associated external, middle and internal ear anomalies and the thyroid malformation, however, have not been reported in this condition. To the best of our knowledge, this is a hitherto new syndrome with an unknown inheritance.

Abnormalities, Multiple↗

PubMedDate not supplied

Multiple dental developmental abnormalities following canine distemper infection.

Multiple dental developmental abnormalities (e.g., dental impaction, partial eruption, oligodontia, enamel hypoplasia, and dentin hypoplasia) in a 10-month-old, female, Tanzanian tropical mixed-breed puppy are reported. Various permanent teeth were involved. These included impacted mandibular canine and first and third premolar teeth; a partially erupted maxillary canine tooth; oligodontia of a mandibular fourth premolar tooth; enamel hypoplasia of the maxillary and mandibular canine teeth, incisors, and premolars; and dentin hypoplasia of the maxillary incisors, maxillary premolars, and mandibular premolars. The puppy had clinical canine distemper at the age of two months and had no history of any other systemic nor generalized infection prior to the time when the dental abnormalities were observed.

Animals↗

PubMed1995

Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

Alagille syndrome (AGS) is a clinically defined disorder characterized by cholestatic liver disease with bile duct paucity, peculiar facies, structural heart defects, vertebral anomalies, and ocular abnormalities. Multiple patients with various cytogenetic abnormalities involving 20p12 have been identified, allowing the assignment of AGS to this region. The presence of interstitial deletions of varying size led to the hypothesis that AGS is a contiguous gene deletion syndrome. This molecular analysis of cytogenetically normal AGS patients was performed in order to test this hypothesis and to refine the localization of the known AGS region. Investigation of inheritance of simple tandem repeat polymorphism alleles in 67 members of 24 cytogenetically normal Alagille families led to the identification of a single submicroscopic deletion. The deletion included loci D20S61, D20S41, D20S186, and D20S188 and presumably intervening uninformative loci D20S189 and D20S27. The six deleted loci are contained in a single YAC of 1.9 Mb. The additional finding of multiple unrelated probands who are heterozygous at each locus demonstrates that microdeletions at known loci within the AGS region are rare in cytogenetically normal patients with this disorder. This suggests that the majority of cases of AGS may be the result of a single gene defect rather than a contiguous gene deletion syndrome.

Alagille Syndrome↗

PubMed1996

Observations of scanning electron microscopy detected abnormalities of non-lubricated latex condoms.

To describe surface abnormalities found by scanning electron microscopy of non-lubricated latex condoms, thirty samples of 15 condoms were photographed at low (26-94x), medium (240-940x) and high (> 1000x) magnification. Each sample was initially scanned at low magnification to determine the presence and location of surface abnormalities. Photographs taken at medium and high magnification were of the area most representative of the abnormality. Nine samples (30%) were completely normal at all magnifications. Of the total viewed at low power, 18 (60%) were normal, 11 (37%) revealed ridging and 1 (3%) revealed melting. Of the total viewed at medium power, 14 (47%) were normal, 3 (10%) showed cracking, 2 (7%) showed melting or a combination of ridging and cracking, and 11 (37%) showed ridging. At high power, 10 (34%) were normal, 11 (38%) revealed either melting or a combination of two defects, 5 (17%) showed ridging, and 3 (10%) revealed cracking. Fifteen (50%) of the samples revealed a surface abnormality (cracking or melting) other than ridging. The majority of condoms viewed under scanning electron microscopy revealed surface abnormalities. The implication of the detected abnormalities needs further evaluations. While ridging may represent a minor abnormality associated with condom handling, multiple abnormalities or melting may represent a more significant atypicality.

Condoms↗

PubMed2004

A trisomy 2 fetus with severe neural tube defects and other abnormalities.

Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2.

Abnormalities, Multiple↗

PubMed2001

Phenotypic presentation and outcome of esophageal atresia in the era of the Spitz classification.

PURPOSE: The aim of this study was to investigate contemporary patterns of presentation and outcome in newborns with esophageal atresia with or without tracheoesophageal fistula (OA) using modern prognostic criteria to appraise survival. METHODS: Over a 12-year period (1986 through 1997), 134 patients with OA were admitted to a single institution. Patient demographics, the presence of cardiac defects, other associated abnormalities (VACTERL), surgical intervention, and patient outcome were recorded. To identify and evaluate changes in the pattern of clinical presentation, frequency of associated anomalies and outcome, patients were analyzed during 4 consecutive time periods, 1986 to 1988, 1989 to 1991, 1992 to 1994, and 1995 to 1997. RESULTS: A primary repair or delayed primary repair was performed in 113 (84%) patients, with a staged procedure in 19 (14%). Two babies with trisomy 18 did not undergo surgery. Thirty-eight newborns (28%) had a major cardiac malformation (excluding patent ductus arteriosus, unless needing ligation), and 25 (19%) had recognized VACTERL associations. There was a significant increase in the proportion of infants with major cardiac defects diagnosed over the study period, 5 of 34 patients between 1986 and 1988 to 19 of 41 patients between 1995 and 1997 (chi(2) test, P <.001), but the incidence of VACTERL associations remained unchanged. Overall survival rate was 86% in those who underwent surgery. The relative risk of mortality in patients with major cardiac disease and VACTERL associations was 3.47 (95% CI; 1.51 to 7.96) and 2.54 (95% CI; 1.14 to 4.86), respectively. Birth weight was significantly higher in infants who survived (2.68 kg) compared with those who died (2.16 kg, P =.003). Thirty percent of infants with more than one system abnormality died compared with 8% of infants with 1, system abnormality (P =.004). CONCLUSIONS: This study has found a significant increase in the frequency of cardiac abnormalities encountered in a cohort of OA patients during the period under review. Cardiac disease and multiple abnormalities carried a substantial increased risk of mortality. In the era of the Spitz classification, the phenotypic presentation is important to accurately assess caseload severity and prognosis.

Abnormalities, Multiple↗

PubMedDate not supplied

Correlation of antenatal ultrasonography and pathological examinations in 153 malformed fetuses.

Findings in 153 abnormal fetuses diagnosed by antenatal ultrasound and subsequently examined by a pediatric pathologist were reviewed. The primary diagnoses in the 153 cases were 67 nervous system anomalies, 19 gastrointestinal system anomalies, 18 genitourinary system anomalies, 13 chromosomal abnormalities, 10 skeletal system anomalies, and 26 other abnormalities. Forty-six percent of the total number had multiple abnormalities. In 67 cases (44%), autopsy showed further anomalies or altered the ultrasonographic diagnosis. However, in only 36 (25%) were there autopsy findings that altered management. Errors in ultrasound diagnosis were most commonly associated with the presence of multiple anomalies and oligohydramnios. Expert pathological examination remains an essential tool in the management of fetal anomaly.

Abnormalities, Multiple↗

PubMed1994

Effects of dietary selenium on differentiation, morphology and functions of spermatozoa of the house rat, Rattus rattus L.

Ingestion of 2 ppm and 4 ppm selenium in the diet by the house rat, Rattus rattus, for 5 weeks caused a dose-dependent reduction in its body weight, testicular and cauda epididymidis weights, concentration, motility and percentage of live spermatozoa with a simultaneous increase in the percentage of their abnormal forms. Compared to 1.39% abnormal spermatozoa in cauda epididymidis in untreated control rats, 3.89% and 24.64% abnormal spermatozoa were observed in rats with 2 ppm and 4 ppm dietary selenium respectively. Ingestion of 4 ppm selenium had no significant effect on abnormalities of the head and neck regions but abnormalities of the midpiece region and multiple abnormalities increased significantly. Analysis of the various stages of differentiation of spermatids in the testis has revealed that with 4 ppm dietary selenium, the abnormalities are induced mainly in the midpiece region of the flagellum which is a site of energy production.

Animals↗

PubMed1993

Richter's syndrome: a report on 39 patients.

PURPOSE: The incidence, clinical features, laboratory findings, and treatment results of 39 patients with Richter's syndrome (RS) are reported. PATIENTS AND METHODS: Thirty-nine of 1,374 patients with chronic lymphocytic leukemia (CLL) developed RS. RESULTS: Features associated with RS included systemic symptoms (59%), progressive lymphadenopathy (64%), extranodal involvement (41%), elevation of lactate dehydrogenase (LDH; 82%), and a monoclonal gammopathy (44%). Analysis of the CLL karyotype showed no specific chromosomal abnormality that conferred increased risk; however, multiple abnormalities were common. Patients at all Rai stages and in complete response (CR) were at risk, including three CR patients with no residual disease at the level of detection by dual-parameter flow cytometry or restriction analysis for immunoglobulin (Ig) gene rearrangements. The incidence was not higher in patients who had received prior fludarabine or chlorodeoxyadenosine. The median survival duration was only 5 months, despite multiagent therapy. Patients who responded had prolonged survival durations (P < .001). Three of eight patients who survived more than 1 year had a de novo presentation of both CLL and large-cell lymphoma (LCL). Comparison of surface light-chain analysis from both low- and high-grade components demonstrated isotypic light-chain expression in 12 of 15 patients. Ig heavy- and light-chain gene rearrangement analysis showed identical rearrangement patterns in five of five patients. CONCLUSION: The clinical, laboratory, and survival characteristics of our RS patients were similar to those reported in earlier studies. Ig gene rearrangement and light-chain isotype analysis support a common origin for CLL and LCL. Despite progress in the treatment of CLL, the development of LCL remains a serious complication and continued surveillance in all CLL patients is warranted.

Antineoplastic Combined Chemotherapy Protocols↗

PubMed1993

Application of long-term bone marrow cultures for studying the leukemic transformation of myelodysplastic syndromes.

Myelodysplastic syndrome (MDS) has been thought to be an identifiable early stage in multistep leukemogenesis. Considerable numbers of patients with MDS eventually develop acute myelogenous leukemia (AML), which is very much more difficult to manage than typical denovo AML. There are several differences in both the clinical and biological behavior of AML with and without prior MDS. We have established an unique long-term bone marrow culture (LTBMC) system which allows abnormal cells to grow in preference to normal cells, based on the method originally described by Dexter et al. Leukemic transformations occur more frequently in MDS patients with abnormal karyotypes, and particularly those with multiple abnormalities. New cytogenetic abnormalities were occasionally observed at the time of transition to AML. We have applied this LTBMC system for cytogenetic and molecular studies on the leukemic transformation from MDS. Among the 32 patients with MDS studied thus far, novel abnormal karyotypes were detected during the LTBMCs in 15 patients. Furthermore, 6 out of 23 novel karyotypes detected during the in-vitro cultures emerged in vivo, one to 11 months later in 4 patients. In addition, point mutation of the N-ras proto-oncogene was observed in 3 of 18 cases. The signal of the dot-blot hybridization was increased in one examined case after 2 weeks in culture. Thus, this LTBMC system may provide some promising information with respect to understanding the multistep process from the preleukemic stage to the development of overt leukemia as well as its prognostic relevance.

Bone Marrow↗

PubMed1995

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.

Orofacial clefting is genetically complex, no single gene being responsible for all forms. It can, however, result from a single gene defect either as part of a syndrome (e.g. van der Woude syndrome, Treacher-Collins syndrome, velo-cardio-facial syndrome) or as an isolated phenotypic effect (e.g. X-linked cleft palate; non-syndromic, autosomal dominant orofacial clefting). Several studies have suggested that chromosome 6p is a candidate region for a locus involved in orofacial clefting. We have used YAC clones from contigs in 6p25-p23 to investigate three unrelated cases of cleft lip and palate coincident with chromosome 6p abnormalities. Case 1 has bilateral cleft lip and palate and a balanced translocation reported as 46,XY,t(6,7)(p23;q36.1). Case 2 has multiple abnormalities including cleft lip and palate and was reported as 46,XX,del(6)(p23;pter). Case 3 has bilateral cleft lip and palate and carries a balanced translocation reported as 46,XX,t(6;9)(p23;q22.3). We have identified two YAC clones, both of which cross the breakpoint in cases 1 and 3 and are deleted in case 2. These clones map to 6p24.3 and therefore suggest the presence of a locus for orofacial clefting in this region. The HGP22 and AP2 genes, potentially involved in face formation, have been found to flank this region, while F13A maps further telomeric in 6p24.3/25.

Abnormalities, Multiple↗

PubMed1996

Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p.

Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.

Abnormalities, Multiple↗

PubMed1979

Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat.

An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;p11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.

Abnormalities, Multiple↗