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PubMed2006

Altered calcium currents in cultured sensory neurons of normal and trisomy 16 mouse fetuses, an animal model for human trisomy 21 (Down syndrome).

Down syndrome is determined by the presence of an extra copy of autosome 21 and is expressed by multiple abnormalities, with mental retardation being the most striking feature. The condition results in altered electrical membrane properties of fetal dorsal root ganglia (DRG) neurons, as in the trisomy 16 fetal mouse, an animal model of the human condition. Cultured trisomic DRG neurons from human and mouse fetuses present faster rates of depolarization and repolarization in the action potential compared to normal controls and a shorter spike duration. Also, trisomy 16 brain and spinal cord tissue exhibit reduced acetylcholine secretion. Therefore, we decided to study Ca2+ currents in cultured DRG neurons from trisomy 16 and age-matched control mice, using the whole-cell patch-clamp technique. Trisomic neurons exhibited a 62% reduction in Ca2+ current amplitude and reduced voltage dependence of current activation at -30 and -20 mV levels. Also, trisomic neurons showed slower activation kinetics for Ca2+ currents, with up to 80% increase in time constant values. Kinetics of the inactivation phase were similar in both conditions. The results indicate that murine trisomy 16 alter Ca2+ currents, which may contribute to impaired cell function, including neurotransmitter release. These abnormalities also may alter neural development.

Action Potentials↗
PubMed2000

Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant.

We present an autopsy case of a 46-day-old male infant with chromosome 22q11 deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.

Aortic Dissection↗
PubMed2003

Gastrointestinal torsion in a channel catfish (Ictalurus punctatus).

A case of gastrointestinal torsion with dilatation in a farm-raised channel catfish (Ictalurus punctatus) was examined at the Thad Cochran National Warmwater Aquaculture Center (Stoneville, Mississippi, USA). The affected fish was a gravid female broodfish, which displayed pale gills and a markedly distended abdomen. Internal examination revealed that the gastrointestinal tract and ovaries were rotated around each other four times in a counterclockwise direction as viewed in right lateral recumbency. The catfish had a markedly distended gastrointestinal tract, pale liver, hypoplastic spleen, hypoplastic swim bladder, and high volume of ascitic fluid. Blood analysis indicated multiple abnormalities, including severe anemia and metabolic acidosis. The etiology of the torsion was uncertain; however, the presence of a hypoplastic swim bladder most likely allowed for increased movement of the gastrointestinal tract and ovaries. When examining cases of abdominal distention in fish, gastrointestinal torsion can be considered among the differential diagnoses.

Air Sacs↗
PubMed1999

A new lethal syndrome of exomphalos, short limbs, and macrogonadism.

We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, hyperplasia of Leydig cells, ovarian stroma cells, and Langherans cells, and renal microcysts. We suggest that this condition is a new autosomal recessive MCA syndrome different from Beckwith-Wiedemann syndrome, especially as no infracytogenetic deletion or uniparental disomy of chromosome 11 was found.

Abnormalities, Multiple↗
PubMed1999

A new syndrome comprising vertebral anomalies and multicystic kidneys.

We report a dichorionic twin pregnancy in which both fetuses were affected by a similar pattern of multiple abnormalities. The afrocaribbean parents had a history of infertility, and the pregnancy was conceived using in vitro fertilisation with donor sperm. The features seen in the fetuses do not fit any previously described disorder well. We discuss the differential diagnoses and suggest that this may be an autosomal recessive disorder which has not been previously described.

Abortion, Legal↗
PubMed1999

Presumptive Sry-negative XX sex reversal in a llama with multiple congenital anomalies.

Multiple congenital abnormalities of the external genitalia consistent with XX sex reversal were detected in a juvenile llama. The llama had a typical female karyotype (74, XX) and did not have a Y chromosome, but a minute chromosome was detected. To determine whether a piece of Y chromosome containing the Sry gene might be located in a small translocation, DNA analysis by polymerase chain reaction was performed; the Sry gene was not detected. Histologic examination revealed ovarian tissue, whereas testicular tissue was not found. External genitalia were partially masculinized, indicating that the urogenital sinus, genital tubercle, and genital swellings had been exposed to androgens during development, although the dam had not received exogenous androgens. Testicular tissue in the ovaries may have been undetected or had regressed prior to birth, as has been reported in sex reversal in mice.

Abnormalities, Multiple↗
PubMed2000

A partial trisomy 15q due to 15;17 translocation detected by conventional cytogenetic and FISH techniques.

We report a case having multiple abnormalities including the simultaneous presence of the heart defect and central nerve system abnormalities, which has been reported in a few cases, and with a partial trisomy 15q. Partial trisomy 15q has been inherited from a balanced translocation carried by his phenotypically normal father, detected by traditional banding and fluorescence in situ hybridization (FISH). Application of FISH using whole chromosome specific library probes, locus specific and repetitive probes allowed us to detect the translocation between chromosomes 15q and 17q. Simultaneous application of probes revealed the position of the translocation. Interestingly, in addition to the chromosomes 15 pericentromeric signals, the use of chromosome 15 beta-satellite III probe demonstrated an extra signal on chromosome 14 in both metaphase, and lighted three signals interphase nuclei which was inherited from his father. This patient is compared with other partial trisomy 15q patients reported in the literature. The results are also discussed in relation to genetic counselling for the possible relation of chromosome abnormality and clinical findings.

Chromosome Banding↗
PubMed1975

An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

A four year old girl with severe mental retardation and multiple congenital abnormalities manifested "partial trisomy 15". Her mother, pregnant at the time of examination, possessed a balanced translocation which, after banding techniques, was identified as t(4;15)(p16;q22). Amnio-centesis revealed the karyotype of the fetus to be identical to that of the proposita and a therapeutic abortion was performed. Prenatal investigation of a subsequent pregnancy revealed a normal male karyotype. Comparison of the proposita and aborted fetus of this family with the 5 reported other cases of "partial trisomy 15" does not allow for a precise recognizable clinical syndrome.

Abnormalities, Multiple↗
PubMed2000

[Molecular biological diagnosis].

Biological behavior of lung cancer was evaluated by basic study. Malignancy Associated Change is the concept that the nuclear features of normal cells in the vicinity of cancer show subtle morphological difference from those of healthy individuals. The difference was recognized by high resolution cytometry and the expression of MAC cells was correlated with the degree of abnormality of chest diseases. Comparative genomic hybridization and fluorescence in situ hybridization were performed to investigate genetic abnormality of. Multiple genetic abnormalities and chromosomal instability showed poor prognosis. Two dimensional electrophoresis was employed to detect the expression of the specific protein of lung cancer. TAO2 was proved to be specific to well differentiated adenocarcinoma. Also, metabolic analysis will be employed for cell analysis.

Biomarkers, Tumor↗
PubMed2000

Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p.

Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p: We report on a girl with multiple congenital abnormalities and a prenatally diagnosed 46,XX,14p+ de novo karyotype. Fluorescence in situ hybridization (FISH) demonstrated that the extra material on the short arm of chromosome 14 was not just a polymorphism, but that it originated from chromosome 17. The phenotypic findings of this patient with pure trisomy 17p are compared with those of ten previously published cases.

Abnormalities, Multiple↗
PubMed2000

Circulating and mitogen-induced tumor necrosis factor (TNF) in malnourished children.

Malnutrition in children is associated with an increased risk of infection and death. Multiple abnormalities in the inflammatory-immune response, including cytokine production, have been described in protein energy malnourished (PEM) children and could account for increased severity and frequency of infection. The aim of the present study was to determine whether there are abnormal basal tumor necrosis factor (TNF) serum concentrations in PEM children, to relate it with serum cortisol and plasma corticotrophin levels and to explore simultaneously the in vitro production of TNF by peripheral blood leukocytes (PBL). No differences were found in basal plasma corticotrophin and serum cortisol concentrations in malnourished as compared with normal, well-nourished control children. Basal TNF serum concentrations were significantly higher in malnourished children than in controls. Conversely, mitogen induced TNF production by PBL in vitro was significantly reduced in PEM children compared with controls. Abnormalities in circulating and mitogen-induced TNF production are present in malnourished children even in absence of elevated serum cortisol concentrations. These abnormalities potentially could modify inflammatory-immune responses to infectious stimuli in malnourished children.

Adrenocorticotropic Hormone↗
PubMed2000

[Acardius acephalus. Description of a case].

We report a case of twin gestation (monochorionic-diamniotic) in which one of the twins was acardiac and acephalic. His co-twin suffered infectious, hematological and neurological complications. This condition belongs to the broad spectrum of twin-to-twin transfusion syndrome (TTTS) and is observed in monozygous pregnancies in which the vascular systems of the fetuses are connected. The severity of this syndrome depends on the type of anastomoses and the timing of their establishment. Circulation is accomplished by the heart of the more perfect twin ("pump twin") who is at risk for heart failure. The recipient twin may display severe and sometimes lethal anomalies, such as acardia or acephalus. In some cases a prior situation such as a single umbilical artery or chromosomal anomaly in the acardiac twin may be found. Early diagnosis is essential to formulate a plan of management focused on the normal twin.

Abnormalities, Multiple↗
PubMed2001

[Disabling malformations in Chile. Latin American Cooperative Study of Congenital Malformations (ECLAMC), 1982-1997].

BACKGROUND: The ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) is an epidemiological surveillance program for congenital defects that operates in Chile since 1969. AIM: To communicate the frequency of disabling congenital defects in Chile in the period 1982-1997. MATERIAL AND METHODS: A review of the ECLAMC registry, choosing 12 congenital defects: amelia, limb amputations, limb reductions, arthrogryposis, hip luxation and subluxation, spina bifida, hydrocephaly, microcephaly, cephalocele, talipes equinovarus, Down syndrome and multiple abnormalities. RESULTS: In the study period, 283,403 births occurred and 7,917 newborns were malformed (7,654 born alive and 263 stillbirths). The congenital defects prevalence rates appeared higher in Chile than in other Latin American countries, specially among stillbirths. Among the studied maternity hospitals, the Clinical Hospital of the University of Chile, showed the higher prevalence of congenital defects. Rancagua and the Navy Hospital in Valparaiso have a high frequency of Down syndrome. Global rates in Chile and in the rest of ECLAMC for specific defects, do not have significant differences, except for hip subluxation, that has a lower incidence in Chile. CONCLUSIONS: The ECLAMC allows to have a good knowledge of the prevalence of congenital malformations in Latin America.

Chi-Square Distribution↗
PubMed2001

CNS findings in iniencephaly: case report and literature review.

A male iniencephalic foetus of about 25 weeks gestation is described. The baby was born to a 22-year-old mother, who presented with abdominal pain of 1 day duration. An ultrasound scan at that time showed multiple foetal anomalies and the pregnancy was terminated. A stillborn baby was delivered. At autopsy, characteristic findings of iniencephaly were seen in the dysmorphic foetus as well as multiple structural abnormalities. The autopsy results, with emphasis on the neuropathological findings, are described and various hypotheses of the pathogenesis of iniencephaly are discussed with reference to theories of embryological development and other cases in the literature.

Abnormalities, Multiple↗
PubMed2001

Heterotaxy syndrome in an adult, with polysplenia, visceral and cardiovascular malposition.

A rare case of an asymptomatic heterotaxy syndrome associated with dextrocardia is presented in a 45-year-old woman. This anomaly was incidentally discovered on computed tomography and ultrasound of the upper abdomen. Besides the presence of multiple abnormally positioned spleens, right-sided stomach, left-sided liver, short pancreas and venous anomalies, like interrupted left-sided inferior vena cava with azygos continuation, and dextrocardia were seen. Although cardiac abnormalities are frequently associated with heterotaxy syndromes with polysplenia in children, this is far less frequent in adults because of early decease in children with cardiac abnormalities. To the best of our knowledge, this is the third reported case of heterotaxy with polysplenia associated with dextrocardia in an asymptomatic adult patient.

Female↗
PubMed2002

99mTc-mebrofenin scintigraphy for evaluating liver disease in a rat model of Wilson's disease.

UNLABELLED: The purpose of this study was to establish whether (99m)Tc-mebrofenin could noninvasively assess liver function in Wilson's disease. METHODS: Long-Evans Cinnamon (LEC) rats, which reproduce Wilson's disease with copper toxicosis, and their normal counterparts, Long-Evans Agouti (LEA) rats, were studied. Scintigraphic findings were correlated with biliary mebrofenin excretion and residual organ counts and with hepatic copper content, histology, copper excretion capacity, and liver test results. RESULTS: Serum alanine aminotransferase (ALT) levels were elevated in some LEC rats, whereas serum bilirubin levels were normal. Liver histology was normal in LEA rats, whereas LEC rats showed multiple abnormalities. Mebrofenin was incorporated rapidly in LEA rats, with a mean time to peak liver activity of 80 +/- 30 s, followed by prompt biliary excretion of the tracer. In LEC rats, the mean time to peak activity, 283 +/- 190 s, was significantly longer (P = 0.001). The time to half of peak activity, indicating tracer clearance, was significantly greater in LEC rats than in LEA rats (1,825 +/- 1,642 s vs. 524 +/- 82 s, P = 0.002). Hepatic mebrofenin handling correlated with hepatic copper content, histologic grade, copper excretion capacity, and serum ALT. CONCLUSION: Correlation of (99m)Tc-mebrofenin handling with liver morphology, function, and copper accumulation in LEC rats suggests that mebrofenin scintigraphy can be useful for noninvasively monitoring disease progression and therapeutic response in Wilson's disease. Although the data were obtained in an animal model of Wilson' disease, these biochemical parameters likely reflect liver damage in general, suggesting that there may be a role for mebrofenin scintigraphy in other chronic liver diseases as well.

Alanine Transaminase↗
PubMed2002

Pcp1p, an Spc110p-related calmodulin target at the centrosome of the fission yeast Schizosaccharomyces pombe.

In the budding yeast Saccharomyces cerevisiae, the calmodulin-binding protein Spc110p/Nuf1p facilitates mitotic spindle formation from the fungal centrosome or spindle pole body (SPB). The human Spc110p orthologue kendrin is a centrosomal, calmodulin-binding pericentrin isoform that is specifically overexpressed in carcinoma cells. Here we establish an evolutionary and functional link between Spc110p and kendrin through identification and analysis of similar calmodulin-binding proteins in the fission yeast Schizosaccharomyces pombe (Pcp1p, pole target of calmodulin in S. pombe) and the filamentous fungus Aspergillus nidulans. Like Spc110p and kendrin, Pcp1p and the A. nidulans protein contain predicted coiled-coil secondary structure and a COOH-terminal calmodulin-binding region. Green fluorescent protein fusions of Pcp1p localize to the SPB as analyzed by fluorescence and immunoelectron microscopy. Pcp1p overexpression causes chromosome missegregation, multiple mitotic spindle fragments, and multiple abnormal SPB-like structures, a phenotype remarkably similar to that of many human carcinoma lines, which exhibit chromosome and spindle defects, and supernumerary centrosomes.

Amino Acid Sequence↗