Angioedema hereditario: una causa infrecuente de abdomen agudo. Hallazgos en la TC y ecografía abdominal / Hereditary angioedema: an uncommon cause of acute abdomen. Abdominal computed tomography and ultrasound findings

Presentamos una causa poco común de abdomen agudo en un paciente con angioedema hereditario. Los hallazgos ecográficos y de TC descritos pueden sugerir este diagnóstico, evitando cirugías inútiles en pacientes no diagnosticados previamente de esta enfermedad (AU)

Aplasia cutánea congénita familiar / Familial aplasia cutis congenita

La aplasia cutánea congénita es un grupo heterogéneo de trastornos en los que áreas más o menos extensas de piel están ausentes al nacer. Fue descrito por Cordon en 1767. Aunque la mayoría de casos son esporádicos, están descritos casos familiares con herencia autosómica dominante o recesiva con expresividad variable. La aplasia cutánea puede aparecer de forma aislada o asociada a otras malformaciones, y se han propuesto varias clasificaciones según el tipo de herencia, la localización del defecto y las anomalías asociadas. Presentamos un caso localizado en el cuero cabelludo, sin otras anomalías asociadas, con otros tres miembros de la familia afectos, correspondiendo a una herencia autosómica dominante (AU)

A prospective controlled study of karyotyping for 430 consecutive babies conceived through intracytoplasmic sperm injection.

OBJECTIVE: To compare the karyotype of babies conceived through ICSI with that of naturally conceived babies. DESIGN: Prospective controlled study. SETTING: The Egyptian IVF-ET Center, Cairo, Egypt. PATIENT(S): Four hundred and thirty babies conceived through ICSI and 430 babies conceived naturally. INTERVENTION(S): ICSI and karyotyping. MAIN OUTCOME MEASURE(S): Abnormal karyotype. RESULT(S): Four hundred and thirty consecutive babies conceived through ICSI who were delivered in one hospital had 15 abnormal karyotypes (3.5%). Of the 15 babies, 7 were of female phenotype and 8 of male phenotype. Six babies had sex chromosome anomalies, 8 had autosomal anomalies, and 1 had combined sex chromosome and autosomal anomalies. A control group of 430 consecutive babies conceived naturally who were delivered in one hospital had no abnormal karyotype. The difference between the two groups was significant (P<.001). CONCLUSION(S): ICSI carries a small but significant increased risk of abnormal karyotyping to the offspring. This risk appears to be equally distributed between autosomal and sex chromosome anomalies.

Satellite III sequences on 14p and their relevance to Robertsonian translocation formation.

Robertsonian translocations (ROBs) are the most common rearrangements in humans, contributing significantly to genetic imbalance, fetal wastage, mental retardation and birth defects. Rob(14q21q) and rob(13q14q), which are formed predominantly during female meiosis, comprise the majority (approximately 85%) of all ROBs. Previous studies have shown that the breakpoints are consistently located within specific regions of the proximal short arms of chromosomes 13, 14, and 21. The high prevalence of these translocations, the consistent breakpoints found, and the fact that roughly 50% of cases occur sporadically suggest that the sequences at or near the breakpoints confer susceptibility to chromosome rearrangement and that the rearrangements occur through a specific mechanism. To investigate this hypothesis, we developed hamster-human somatic cell hybrids derived from de novo rob(14q21q) patients that contained the translocated chromosome segregated from the other acrocentric chromosomes. We determined the physical order of five satellite III subfamilies on 14p, and investigated their involvement in formation of these de novo translocations.

Identification and characterization of satellite III subfamilies to the acrocentric chromosomes.

The centromeres and the short arms of the five pairs of acrocentric chromosomes in humans are composed of tandemly ordered repetitive DNA. Previous studies have suggested that the exchanges between acrocentric chromosomes have resulted in concerted evolution of different DNA sequences in their short arms. The acrocentric chromosomes are clinically relevant since they are involved in Robertsonian translocation formation and non-disjunction resulting in aneuploidy. Here we have identified seven new satellite III repetitive DNA subfamilies, determined their nucleotide sequences and established their chromosomal distributions on the short arms of the acrocentric chromosomes. Knowledge of these related sequences may help to elucidate the molecular basis of Robertsonian translocation formation.

Congenital subependymal pseudocysts: own data and meta-analysis of the literature.

BACKGROUND: Congenital subependymal pseudocysts are incidental findings that are found in 0.5-5.2% of neonates during postmortem examination or head ultrasonography. In our institution we detected 10 neonates with CSEPC. OBJECTIVE: To investigate associated etiological factors, morphologic characteristics and outcome of CSEPC. METHODS: We performed a meta-analysis of the literature on CSEPC (1967-98), including our 10 cases. RESULTS: A total of 256 cases of CSEPC were analyzed. Ultrasound diagnosed 77.6% of CSEPC; 48.8% were bilateral and 53.4% were located in the caudothalamic groove or head of caudate nucleus. Altogether, 93.5% resolved during 1-12 months of ultrasonographic follow-up. Compared to the general neonatal population, the following features were more prevalent in the CSEPC population: prematurity, maternal vaginal bleeding, preeclamptic toxemia, intrauterine growth restriction, asphyxia, fetal cytomegalovirus and rubella infections, congenital malformations, chromosomal aberrations, infant mortality, and neurodevelopmental handicap. The risk for neurodevelopmental handicap was significantly higher when CSEPC were associated with fetal infections, IUGR, malformations and chromosomal aberrations, or persistence of CSEPC during follow-up. CSEPC infants without any of these four conditions had a low risk for neurodevelopmental handicap. CONCLUSIONS: CSEPC are morphologic features of various underlying conditions encountered in the fetus. Association of CSEPC with IUGR, fetal infections, malformations and chromosomal aberrations or persistence of CSEPC indicates a higher risk for future neurodevelopmental handicaps, probably because of the deleterious effects on the fetal brain that are inherent in these conditions. A favorable outcome is expected in the absence of these risk factors.

Single umbilical artery is associated with an increased incidence of structural and chromosomal anomalies and growth restriction.

The objective to characterize neonatal outcome associated with ultrasonographic identification of a single umbilical artery. Pregnancies diagnosed with single umbilical artery antenatally were identified. All prenatal/antenatal and pediatric records were reviewed for maternal demographics, associated anomalies, karyotypic analysis, pregnancy complications, and neonatal outcome. Twenty-seven pregnancies complicated by fetal single umbilical artery were identified. Of the 27 pregnancies, 5 (18.5%) underwent pregnancy termination and 1 (3.7%) experienced fetal demise. Of the 21 liveborn infants, 4 (19%) died within the first year of life. Sixty-seven percent of fetuses had an associated structural anomaly. Sixteen of the 27 pregnancies underwent amniocentesis and 7 of these were chromosomally abnormal. All of the karyotypically abnormal fetuses had a structural defect in addition to the single umbilical artery. Of the six fetuses without any associated structural or chromosomal anomalies, three (50%) demonstrated growth restriction. Single umbilical artery is relatively rare finding. When a single umbilical artery is identified, a vigilant search for associated anomalies should be undertaken. Pregnancies identified as having fetuses with associated structural anomalies should be offered amniocentesis. Pregnancies with isolated single umbilical artery should be carefully monitored for evidence of fetal growth restriction.

[The results of cytogenetic survey in liquidators of the Chernobyl nuclear accident]. / Rezul'taty tsitogeneticheskogo obsledovaniia uchastnikov likvidatsii avarii na Chernobyl'skoi AES.

The article represents results of long cytogenetic survey among liquidators of Chernobyl accident. The parameters studied are frequency of unstable chromosomal aberrations and frequency of symmetrical translocations. The authors show that, in spite of long term after irradiation, average frequency of cells with dicentrics and centric fusions (unstable chromosomal aberrations) remains relatively high. Discussion includes possible use of cytogenetic methods in reconstruction of absorbed radiation doses in many years after exposure.

PML-RARA fusion transcripts in irradiated and normal hematopoietic cells.

It is believed that two important factors in the genesis of reciprocal chromosomal translocations in malignant cells are the physical proximity of the involved regions and local structural features of the chromatin fiber that make them more susceptible to breakage and rearrangement. In this work we sought to investigate whether PML-RARA fusion transcripts, characteristic of acute promyelocytic leukemia (APL), could be induced by a clastogenic agent in cells known to have, a priori, a favorable spatial distribution of these genes. A lymphoid-cell line, lacking the t(15;17) but having the PML and RARA genes in close proximity in specific phases of the cell cycle, was irradiated with 10 Gy of (60)Co, and the incidence of PML-RARA transcripts was analyzed by a highly sensitive PCR assay. Despite gene proximity, typical PML-RARA transcripts were only rarely detected in irradiated cells. The same phenomenon was observed at similar frequency in control non-irradiated cells. These findings made us investigate whether such transcripts could also be detected in peripheral blood cells from normal individuals. PML-RARA transcripts were observed at low frequencies in isolated lymphoid and granulocytic cell populations, with similar incidence in both cell types. The data thus indicate that the PML and RARA genes are not particularly susceptible to the clastogenic effects of gamma-irradiation, and that, similar to what has been reported for other chromosomal translocations, transcriptionally active PML-RARA rearrangements can be generated in normal hematopoietic cells of different lineages without apparent oncogenic consequences.

Patología molecular de las neoplasias de pulmón / Molecular pathology of lung neoplasia

No disponible

Chromosomal regions involved in the pathogenesis of osteosarcomas.

The comparative genomic hybridization technique (CGH) was used to identify common chromosomal imbalances in osteosarcomas (OS), which frequently display complex karyotypic changes. We analyzed 13 high-grade primary tumors, 5 corresponding cell lines, 2 primary tumors grade 2, and 1 recurrent tumor from a total of 16 patients. Some of the CGH results have been verified by fluorescence in situ hybridization (FISH) studies. Gains of chromosomal material were more frequent than losses. Most common gains were observed at 8q (11 cases), 4q (9 cases), 7q (8 cases), 5p (7 cases), and 1p (8 cases). The smallest regions of overlap have been narrowed down to 8q23 (10 cases), 4q12-13 (8 cases), 5p13-14 (7 cases), 7q31-32 (7 cases), 8q21 (7 cases), and 4q28-31 (5 cases). These data demonstrate that a number of chromosomal regions and even two distinct loci on 4q and 8q are involved in the pathogenesis of OS, with gain of 4q12-13 chromosomal material representing a newly identified locus. Seven of 16 cases displayed, besides gain of 8q23 sequences, gain of MYC copies in CGH and FISH. Previous CGH reports confined gain of 8q material to 8cen-q13, 8q21.3-8q22, and 8q23-qter, whereas our data suggest that the loci 8q21 and 8q23-24 are affected in the development of OS. In contrast to recent reports, copy number increases at 8q and 1q21 did not have an unfavorable impact on prognosis in the present series. Genes Chromosomes Cancer 28:329-336, 2000.

Socioeconomic inequalities in risk of congenital anomaly.

AIMS: To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups. METHODS: A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk near hazardous waste landfill sites. As a measure of socioeconomic status, cases and controls were given a value for the area level Carstairs deprivation index, by linking the postcode of residence at birth to census enumeration districts (areas of approximately 150 households). RESULTS: Risk of non-chromosomal anomalies increased with increasing socioeconomic deprivation. The risk in the most deprived quintile of the deprivation index was 40% higher than in the most affluent quintile. Some malformation subgroups also showed increasing risk with increasing deprivation: all cardiac defects, malformations of the cardiac septa, malformations of the digestive system, and multiple malformations. No evidence for socioeconomic variation was found for other non-chromosomal malformation groups, including neural tube defects and oral clefts. A decreasing risk with increasing deprivation found for all chromosomal malformations and Down's syndrome in unadjusted analyses, occurred mainly as a result of differences in the maternal age distribution between social classes. CONCLUSION: Our data, although based on limited numbers of cases and geographical coverage, suggest that more deprived populations have a higher risk of congenital anomalies of non-chromosomal origin and some specific anomalies. Larger studies are needed to confirm these findings and to explore their aetiological implications.

The Chernobyl accident and its consequences: update at the millennium.

A marked increase in the incidence of papillary thyroid cancer in children has been documented in regions of the former Soviet Union most heavily contaminated by radioactive fallout from the Chernobyl nuclear power plant accident in April 1986. Accumulation of radioactive iodines by normal iodine trapping mechanisms resulted in significant radiation doses to the thyroid gland. Although it has long been known that thyroidal radiation resulted in nuclear and chromosomal abnormalities visible by light microscopy, modern molecular biology techniques are beginning to identify much smaller alterations in chromosomal coding sequences that are associated with malignant transformation. Although stable chromosomal abnormalities can be detected in Chernobyl-associated thyroid cancers, they are much less prevalent than in thyroid cancers developing after external beam irradiation. However, several unique chromosomal breakpoints have been described in radiation-associated thyroid cancers that are not commonly found in spontaneously occurring thyroid cancer. Furthermore, activation of specific subtypes of the ret/PTC tyrosine kinase oncogene appears to be more common in radiation-associated thyroid cancers than in spontaneous thyroid cancers. In summary, thyroid cancers developing in the aftermath of the Chernobyl accident provide a unique opportunity to search for chromosomal abnormalities that may be specific for radiation-induced thyroid cancer.

[Incidence of chromosomal anomalies and congenital malformations in children born from assisted fertilization]. / Incidenza delle anomalie cromosomiche e delle malformazioni congenite nei bambini nati da procreazione medicalmente assistita.

The introduction and widespread application of Assisted Reproductive Techniques (ART) have raised major concern about the offspring 's health. The incidence of congenital and chromosomal anomalies after standard In Vitro Fertilization and Embryo Transfer seems to be similar to that expected in the general population. The prevalence of congenital malformations does not seem to be higher in children conceived by ICSI. On the other hand, it seems that there is a slight risk for transmission of chromosomal aberration of paternal origin and a certain risk of de novo sex-chromosomal and structural aberrations after ICSI. We report the results of the follow-up of 938 children conceived in our public ART by standard IVF(649) and by ICSI(289) from 21-2-1987 to 30-6-1999. The incidence of the congenital malformations results of the 1.8% (17/938); the incidence of chromosomal anomalies results 0.5% (5/938). The incidence of congenital malformations and chromosomal anomalies results 1.5% (10/649) and 0.6% (4/649), respectively, for standard IVF and 2.4% (7/289) and 0.3% (1/289) for ICSI. Our data seems to be reassuring but the incidence of chromosomal anomalies in ICSI children needs further investigation.