Coastal sedimentation across North America doubled in the 20th century despite river dams.

The proliferation of dams since 1950 promoted sediment deposition in reservoirs, which is thought to be starving the coast of sediment and decreasing the resilience of communities to storms and sea-level rise. Diminished river loads measured upstream from the coast, however, should not be assumed to propagate seaward. Here, we show that century-long records of sediment mass accumulation rates (g cm-2 yr-1) and sediment accumulation rates (cm yr-1) more than doubled after 1950 in coastal depocenters around North America. Sediment sources downstream of dams compensate for the river-sediment lost to impoundments. Sediment is accumulating in coastal depocenters at a rate that matches or exceeds relative sea-level rise, apart from rapidly subsiding Texas and Louisiana where water depths are increasing and intertidal areas are disappearing. Assuming no feedbacks, accelerating global sea-level rise will eventually surpass current sediment accumulation rates, underscoring the need for including coastal-sediment management in habitat-restoration projects.

Parasitosis intestinales y tisulares y su relación con la eosinofilia en una comunidad indígena Yukpa de la Sierra de Perijá, estado Zulia / Intestinal and tissue parasites and their relation with eosinophilia in a Yukpa Amerindian community from the Mountains of Perijá, state of Zulia

Para determinar la prevalencia de parasitosis intestinales y tisulares y su relación con la eosinofilia en una comunidad indígena Yukpa, se analizaron 91 muestras fecales y sanguíneas. A las muestras fecales se les practicó examen coproscópico y concentrado. Se realizó hematología completa para determinar cuenta blanca y porcentaje de eosinófilos, y en suero se efectuó un test de ELISA para la detección de anticuerpos anti- Toxocara canis y anti- Toxoplasma gondii. Se observó una elevada prevalencia de parasitosis intestinales (90,10%). Se apreció predominio de protozoarios sobre helmintos, siendo para los primeros el más prevalente Blastocystis sp. (51,64%) y para los segundos Ascaris lumbricoides (38,46%). La seroprevalencia de anticuerpos anti-Toxocara canis fue de 24,17% y anti-Toxoplasma gondii de 43.95%. No se observó diferencias estadísticamente significativas entre los grupos de edad y sexo en las diferentes parasitosis intestinales y tisulares. No se encontró asociación entre la seroprevalencia para Toxocara canis y la eosinofilia. Se apreció una asociación estadística significativa entre la presencia de eosinofilia y las helmintiasis. Estos resultados sugieren que existe una alta prevalencia de infecciones parasitarias en estas comunidades debido probablemente a sus costumbres y las condiciones sanitarias en las que habitan.

To determine the prevalence of intestinal and tissue parasites and their relationship with eosinophilia in Yukpa Amerindians, 91 fecal and blood samples were analyzed. The fecal samples underwent microscopic and concentrated examinations. Complete hematology was performed to determine white count and percentage of eosinophils; and ELISA tests were performed on the serum to detect anti-Toxocara canis and anti-Toxoplasma gondii antibodies. A high prevalence of intestinal parasites (90.10%) was observed. The predominance of protozoa over helminths was noted; for the first, the most prevalent were Blastocystis hominis (51.64%), and for the second, Ascaris lumbricoides (38.46%). Seroprevalence of anti-Toxocara canis antibodies was 24.17% and for anti-Toxoplasma gondi, 43.95%. No statistically significant differences were observed between age and sex groups for the different intestinal and tissue parasites. No association between seroprevalence for Toxocara canis and eosinophilia was found. A statistically significant association between the presence of eosinophilia and helminthiasis was observed. These results suggest that there is a high prevalence of parasitic infections in these communities due probably to their customs and the sanitary conditions in which they live.

Separation of chiral molecules: a way to homochirality.

A mechanism for separating chiral molecules is proposed. The separation of two enantiomers in an aquifer is considered. The molecules are dragged in the aquifer porous medium by a flow of water or of another liquid. The molecule velocity is u=v/R, where v is the liquid velocity, and R is the retardation factor. The aquifer consists of two one-dimensional layers disposed in series. The layers differ by the retardation factor or by the liquid velocity. The enantiomer velocity is a function of the enantiomer concentrations. This function is different in the two layers. For certain values of the model parameters and when the molecules entering the aquifer are enantiomerically enriched or when the medium is chiral, the concentration of one enantiomer increases around the interface between the two layers and in one layer, whereas the concentration of the other enantiomer decreases. Enantiomer synthesis and decay are not taken into account. The needed values of the parameters can be obtained when the enantiomers are moved by an alternating liquid flow, and the retardation factor oscillates in synchronism with the alternating liquid flow. The parameters of the model are then understood as quantities averaged over one oscillation period. The equations that give the values of the stationary concentrations of the enantiomers are found. The evolution of the enantiomer concentrations is determined by numerically solving a system of two nonlinear advection-dispersion equations. The proposed mechanism may have played a role in the emergence of biomolecular homochirality.

Experimental approach to optimize phytate phosphorus utilization by broiler chickens by addition of supplements.

Supplementation of 1alpha-hydroxycholecal-ciferol (1alpha-OHD(3)), phytase, and Ca levels has been shown to influence phytate P utilization. Two experiments were conducted with 1- to 16-d broilers to investigate the interactions between the effects of 1alpha-OHD(3), phytase, and Ca on phytate P utilization. In experiment 1, the birds were randomly allocated to 13 treatments with 6 levels of 1alpha-OHD(3) from 0 to 11microg/kg, with and without 500 U/kg of phytase supplemented to P-deficient diet. A positive control diet, adequate in Ca and P, was included. In experiment 2, a 3-dimensional rotatable design with 5 levels each of 1alpha-OHD(3), phytase, and Ca was implemented. Supplementation of 1alpha-OHD(3) and phytase increased phytate P utilization, as indicated by an increase in bone ash, phytate P disappearance, and BW. In experiment 1, no interaction between the 1alpha-OHD(3) and phytase effects was determined for any criteria, except for the incidence of P rickets. However, the second experiment showed that there were interactions between the 3 factors (1alpha-OHD(3), phytase, and Ca). The probabilities that observed variation in the 3-way interaction for measured criteria that were due to chance are: BW gain = 0.1364, G:F = 0.11, bone ash percentage = 0.0278, milligrams of bone ash/tibia = 0.0909, Ca rickets = 0.9394, P rickets = 0.4892, tibial dyschondroplasia = 0.5927, and phytate P disappearance = 0.1126. The equations obtained from the regression models were used to generate contour-surface plots. The percentage of bone ash data indicated that low Ca, high phytase, and high 1alpha-OHD(3) levels were needed to optimize phytate P utilization. The results of this study show that this experimental design may be utilized to identify the best levels of nutrients to add to a diet where complex 3-way interactions exist affecting several criteria. The equations may be used to optimize performance based on desired levels of performance and the costs of the inputs.

The vitamin D3 requirement of broiler breeders.

An experiment was conducted with 25- to 66-wk-old Ross broiler breeders in an environment excluding ultraviolet light to determine the cholecalciferol (D3) requirements for hen day egg production; hatchability; body weight of the progeny at 1 d; embryo mortality during the early (1 to 10 d of incubation), middle (11 to 15 d of incubation), and late stages (16 to 21 d of incubation) of development; egg weight; specific gravity; and body ash of the progeny at 1 d of age. Five levels of vitamin D3 (125, 250, 500, 1,000, and 2,000 IU/kg of diet) were fed to hens from 25 to 66 wk of age. One additional group was fed no supplemental D3 until 36 wk of age and was then changed to 4,000 IU/kg of diet. Separate regression analyses were performed for wk 27 to 36 (peak original design) and for wk 37 to 66 (postpeak production modified design). The D3 levels for the predicted maximum hen day egg production during peak and postpeak were 1,424 and 2,804 IU/kg, respectively. The D3 levels for the predicted maximum hatchability were 1,390 IU/ kg (peak) and 2,708 IU/kg (postpeak). The level of D3 that resulted in the minimum early embryo mortality was 1,288 IU/kg at peak; however, no significant effect was observed at postpeak. The D3 levels for minimum middle stage embryo mortality were 1,130 IU/kg (peak) and 2,568 IU/kg (postpeak) and for late stage embryo mortality were 1,393 IU/kg (peak) and 2,756 IU/kg (postpeak). The D3 level for maximum egg weight was 1,182 IU/kg (peak) and for specific gravity was 1,337 IU/kg (peak) and >2,000 IU/kg (postpeak). The D3 level for maximum body ash of progeny at d 1 was >2,000 IU/kg. Analysis of the data from the original design of the experiment (treatments providing 0, 125, 250, 500, 1,000, and 2,000 IU of vitamin D3/kg for the 27- to 36-wk-old birds) indicates a requirement of approximately 1,400 IU of D3/kg of feed for broiler breeder hens. When the data from the modified experiment (37 to 66 wk of age) include conversion of the treatment provided at 0 IU of D3/kg to a treatment providing 4,000 IU of D3/kg, the requirement may be approximately 2,800 IU of D3/kg.

The effect of maternal dietary vitamin D3 supplementation on performance and tibial dyschondroplasia of broiler chicks.

A series of experiments was conducted to investigate the effects of maternal dietary vitamin D3 supplementation at 4 different times during the laying cycle, on the performance and bone quality of broiler chicks fed a diet that induced tibial dyschondroplasia (TD) or an adequate diet. Ross x Ross broiler breeder hens were fed a corn-soy diet with various levels of vitamin D3 from 24 to 66 wk of age. Eggs were collected at 39, 44, 53, and 64 wk of age and hatched. Chicks from hens fed 250 IU of D3/kg (low maternal D3 or LMD3) and 2,000 IU of D3/ kg (high maternal D3 or HMD3) levels were placed in battery brooders and fed the diets from 0 to 16 d. At 16 d, the chicks were weighed and killed; the left tibias were used for bone ash determinations, and the right tibias were used to score the incidence and severity of TD (0, 1, 2, or 3, where 3 is the most severe). Body weight gain and feed intake were significantly lower for the LMD3 chicks at wk 44 and 64, although there was no difference in weight at hatch. For the first 2 hatches (wk 39 and 44), the LMD3 and HMD3 chicks demonstrated high average TD scores (2.03 and 1.57 vs. 2.05 and 1.75 for the LMD3 vs. HMD3 chicks, respectively) and high average incidences of severe TD (50 and 35% vs. 45 and 34% for LMD3 vs. HMD3 levels, respectively). However, results from the last 2 hatches (wk 53 and 64) showed that HMD3 chicks, compared with LMD3 chicks, had reduced average TD scores (1.39 and 1.47 vs. 1.01 and 0.44 for LMD3 vs. HMD3 levels, respectively) and severe TD incidence (36 and 40% vs. 17 and 8% for the LMD3 vs. HMD3 levels, respectively). In this experiment, as egg production declined toward the end of the laying cycle, hens fed the HMD3 might have been able to deposit sufficient quantities of vitamin D3 in the egg to maintain excellent body weight gain at 16 d of age and reduce the incidence and severity of TD. Hens fed the LMD3 diet were unable to produce similar improvements.

Improvements in nitrogen-corrected apparent metabolizable energy of peanut meal in response to phytase supplementation.

A study was conducted to investigate the effect of phytase on the AMEn of peanut meal. One hundred twenty Ross x Ross broiler chicks of mixed sex were fed one of 4 experimental diets from 5 to 15 d of age. Diets used were Diet 1, a low P corn-soybean based basal diet; Diet 2, a 50% basal + 50% peanut meal diet; Diet 3, the basal diet supplemented with 24,000 phytase units (FTU) of Natuphos 5000 phytase/kg; and Diet 4, a phytase-supplemented 50% basal + 50% peanut meal diet. Chromic oxide was added to the basal diet at 0.1% as an indigestible marker. Apparent metabolizable energy was determined by substituting peanut meal at the expense of the basal diet. Other parameters measured included the phytate content of the diets as well as phytate P disappearance. Phytase significantly improved phytate P disappearance for both the corn and soybean meal basal diet (23.8 to 93.7%) as well as the 50% basal + 50% peanut meal diet (16.7 to 89.5%). Phytase increased the AMEn of peanut meal on a DM basis by approximately 9%, from 3,209 to 3,559 kcal/kg.

Effect of the level of cholecalciferol supplementation of broiler breeder hen diets on the performance and bone abnormalities of the progeny fed diets containing various levels of calcium or 25-hydroxycholecalciferol.

Four experiments were conducted using Ross x Ross chicks hatched from broiler breeder hens fed various levels of cholecalciferol (vitamin D3; 0 to 4,000 IU/kg of diet) to determine the effect of the maternal diet on the performance and leg abnormalities of the progeny. Chicks hatched from eggs laid by the hens at different ages were used in experiments 1 to 4. The studies were conducted in an ultraviolet light-free environment as split plot designs, with Ca levels or 25-hydroxycholecalciferol (25-OHD3) in the chicks' diet as the whole plot, and vitamin D3 in the maternal diet as a subplot. Chicks in experiments 1 and 2 were fed 2 levels of Ca (0.63% or 0.90%) and chicks in experiments 3 and 4 were fed 6 levels of 25-OHD3 (0 to 40 microg/kg of diet). Significant increases in body weight gain (BWG) of the progeny were observed in experiments 1, 2, and 4 as the vitamin D3 level in the maternal diet increased. Chicks hatched from eggs laid by hens fed the highest levels of D3 had the highest tibia ash. Significant reductions in Ca rickets incidence (experiments 1 and 2) and tibial dyschondroplasia (TD) incidence (experiment 1) were observed as the level of vitamin D3 in the maternal diet increased. Chicks fed lower levels of Ca had lower BWG and tibia ash and higher incidences of TD and Ca rickets than chicks fed higher levels of Ca. Increasing the level of 25-OHD3 in the chicks' diet significantly improved BWG, tibia ash, and plasma Ca and reduced TD and Ca rickets incidence. An overall evaluation of the study indicates that chicks from hens fed the highest levels of vitamin D3 and fed high levels of Ca or 25-OHD3 had the highest BWG, tibia ash, and plasma Ca, and the lowest incidences of TD and Ca rickets.

Twenty-five hydroxycholecalciferol as a cholecalciferol substitute in broiler breeder hen diets and its effect on the performance and general health of the progeny.

An experiment was conducted with broiler breeder hens to determine the relative biological value of 25-hydroxycholecalciferol (25-OHD3) compared with cholecalciferol (vitamin D3) for hen-day egg production, hatchability, embryo mortality (early, 1 to 10 d of incubation, late, 11 to 21 d), and body ash of the progeny. The study was conducted with 73-to-90-wk-old molted Ross broiler breeder hens in an environment excluding ultraviolet light. A basal vitamin D3 deficient diet supplemented with 4 levels of vitamin D3 (0, 3,125, 12,500, and 50,000 ng/kg of diet) and 2 levels of 25-OHD3 (3,125 and 12,500 ng/kg of diet) was fed. The relative biological values of 25-OHD3 in comparison to vitamin D3, using slope ratio techniques, were 138, 133, 128, and 111% for hen-day egg production, hatchability, late embryo mortality, and body ash of the progeny,, respectively (average = 128%). When comparing 25-OHD3 against D3 at the 3,125 ng/kg level, the relative biological values were 209, 167, 400, and 108% for the same criteria, respectively (average = 221%). However, at the 12,500 ng/kg level no statistical differences between 25-OHD3 and D3 were observed (average = 108%). Four trials were conducted to determine the effect of the maternal diet on the performance and leg abnormalities of the hens' progeny. In experiment 1, no vitamin D was added to the corn-soybean meal basal diet fed to the chicks, and in experiments 2, 3, and 4 the basal diet was supplemented with 27.5 microg of D3/kg of diet. In the progeny study, the average relative biological value of 25-OHD3 at the 3,125 and 12,500 ng/kg levels were 115 and 101%, respectively. The potency of 25-OHD3 in relation to vitamin D3 depended on the level tested. When comparing vitamin D sources, 25-OHD3 had greater potency than D3 only at very low levels of supplementation.

Effects of vitamin D3 dietary supplementation of broiler breeder hens on the performance and bone abnormalities of the progeny.

Six experiments were conducted using Ross x Ross chicks hatched from eggs laid by broiler breeder hens fed various levels of vitamin D3 (0 to 4,000 IU/kg of diet) to determine the effects of vitamin D3 level in the maternal diet on the performance and leg abnormalities of their progeny. Chicks hatched from eggs laid when hens were 27, 41, 29, 36, 45, and 52 wk of age were used in experiments 1, 2, 3, 4, 5, and 6, respectively. The studies were conducted in a ultraviolet (UV)-light-free environment. Experiments 1 and 2 were conducted as complete randomized designs with the maternal diets as the treatments, and experiments 3, 4, 5, and 6 were conducted as split plot designs, with vitamin D3 in the chick diets as the whole plot and vitamin D3 in the maternal diet as a subplot. Chicks in experiments 1 and 2 were fed a vitamin D3-deficient diet, whereas chicks in experiments 3 and 4 were fed 4 levels of vitamin D3 (0 to 400 IU/kg of diet), and chicks in experiments 5 and 6 were fed 6 levels of vitamin D3 (0 to 3,200 IU/kg of D3). The highest body weight gains and tibia ash were observed in chicks hatched from hens fed the highest levels of vitamin D3 in all experiments. Reductions in the incidence of Ca rickets were observed in experiments 3 and 6, whereas increases in tibia ash were observed in experiments 2 and 6 as the level of vitamin D3 in the maternal diet increased. Body weight gain and tibia ash increased and Ca rickets incidence decreased as the vitamin D3 level in chick diets increased. An evaluation of the study indicates that chicks hatched from eggs laid by hens fed 2,000 or 4,000 IU of D3/kg as the maximum level of vitamin D3 had the highest body weight gains, and chicks fed 3,200 IU had the highest body weight and tibia ash and the lowest TD and Ca rickets incidences.

Social and breed effects on the expression of a PGF2alpha induced oestrus in beef cows.

Social organization and breed effects following PGF2alpha were studied in mature Angus, Brahman and Senepol cows allocated into two groups (each A = 5, B = 5 and S = 5). Variables including interval to oestrus onset (IEO), oestrous duration (DE), total mounts received (TMR), and oestrous intensity (IE) were derived via HeatWatch. Breed-type influenced IEO (B = 42.6 +/- 6.7 h; S = 54.6 +/- 6.0 h; and A = 27.8 +/- 5.8 h; p < 0.003). Within breeds, dominant B (69.4 +/- 13.3 h) and S (65.5 +/- 7.4 h) cows were slower (p < 0.05) to be detected in oestrus than subordinate (38.1 +/- 4.4 h) and intermediate (40.6 +/- 6.0 h). However, within A, dominant cows (16.4 +/- 12.5 h) were detected in oestrus earlier (p < 0.05) than intermediate (44.3 +/- 9.2 h) and subordinates (32.7 +/- 5.1 h). Angus (21.5 +/- 2.4 h) and B (22.1 +/- 3.0 h) cows had longer (p < 0.01) DE than S (9.1 +/- 2.8 h). Dominants (20.4 +/- 3.0) and intermediates (20.2 +/- 2.3 h) cows had longer DE (p < 0.04) than subordinates (12.1 +/- 2.1 h) although the interaction breed x social order showed that dominant S had shorter DE than dominant A and B (10.1 +/- 3.3; 34.8 +/- 6.0 h; and 20.0 +/- 6.4 h, respectively; p < 0.001). Angus cows had less TMR than B (p < 0.02) and tended to be less than S cows (p < 0.06). Overall, greatest (p < 0.008) IE occurred in the first 9 h after onset of oestrus with no breed effect (p > 0.05). Dominant cows tended (p < 0.10) to have less TMR (3.2 +/- 0.7 mounts) than subordinate (4.1 +/- 0.4 mounts) and intermediate (4.7 +/- 0.6 mounts) throughout, especially 3-6 h after oestrus onset (p < 0.07). Breed and social order both influence PGF2alpha-induced oestrus behaviour.

[Cytogenetic findings in ductal carcinoma of the breast]. / Hallazgos citogenéticos en carcinoma ductal de mama.

Breast cancer in women is an important medical problem with public health and social implications. In spite of its great clinical importance, little is known about the cytogenetic features of breast carcinomas. Chromosomal abnormalities in some malignant tumors have been used for diagnosis and prognosis or for localizing genes involved in the pathology malignancies. In this report, we present the chromosomal abnormalities found in 32 primary breast ductal carcinomas. The tumor samples were studied using the technique for short-term culturing and cytogenetic analysis with G-banding. Only one tumor with normal karyotype was observed. Thirty one (99%) of the tumors had chromosomal abnormalities including 21 (65.6%) in which chromosome 1 was involved (trisomy, monosomy or structural abnormalities of the type t(1q;2p) and del(1q42). Other recurrent anomalies such as del(12p); del 4(p); +7; +8; -7; -3; were observed. The significance of these findings and their role in tumorogenesis will become more evident with close follow-up of women who have tumors with an abnormal karyotype.

[Clonal chromosome abnormalities in malignant hematological diseases using fluorescence in situ hybridization]. / Anormalidades cromosómicas clonales en enfermedades hematológicas malignas mediante FISH.

Fluorescent in situ hybridization (FISH) is a rapid, sensitive and reliable method for the identification of complete chromosomes, or segments of them, during metaphase or nuclear interphase. The present study shows the results of the analysis of 32 bone marrow aspirates from patients with malignant hematological diseases (11 AML, 7 ALL, 12 CML and 2 CLL), referred to the Medical Genetics Unit of the Faculty of Medicine, Zulia University, Maracaibo, Venezuela between 1994 and 1996. All samples were studied by conventional and molecular techniques (FISH), using probes of total chromosomes, alpha-satellites and locus specific. In patients with AML and ALL and FISH technique detected clonal chromosomal abnormalities, that were not found by the conventional cytogenetic technique. Furthermore, the PML-alpha RARA complex was identified in the promyelocytic acute leukemias. The presence of the molecular complex ABL-BCR was also demonstrated in CML. The present study demonstrates the usefulness of the FISH technique in the detection of clonal chromosomal abnormalities, which are important when considering the clinical care of patients with these pathologies.

[Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela]. / Diagnóstico prenatal. I: Programa de diagnóstico prenatal de la Unidad de Genética Médica de La Universidad del Zulia, Maracaibo, Venezuela.

The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

Ultrasonic evaluation of the vitreous and retina.

Ultrasonic evaluation of the vitreous body augments and complements visual and clinical assessment in any condition in which some form of media opacity exists, eg, cornea, lens, hemorrhage, or subretinal mass. The appearance of the eye in hypotony, the presence of foreign material, the pattern of hemorrhage, and the presence of a detached retina or choroid are all identifiable and their diagnosis may be of critical importance to patient management. Patterns of diabetic retinopathy and ocular tumors are usually characteristic using conventional 10 MHz ultrasound. The use of Very High Frequency (VHF or UBM) ultrasound can identify ciliary body detachment or other retroiridal pathology, such as tumors and cysts.

[Chronic myeloid leukemia. Karyotype changes]. / Leucemia mieloide crónica. Evolución en el cariotipo.

Chronic Myeloid Leukemia (CML) is a clonal disease of bone marrow, citogenetically characterized by the presence of the Philadelphia chromosome (Ph). Additional anomalies in the Ph cromosome have been found during the evolution of CML. This paper will show evidence of cytogenetic abnormalities during the evolution of CML in this region, and its correlation with clinical evolution. 55 samples of bone marrow, 81.3% (45/55) in chronic phase (CP), 12.7% (7/55) in an accelerated phase (AP), and 5.4% (3/55) in blastic phase (BP) were received. In 12/45 patients in CP the karyotype was repeated at least once a year during the evolution of their illness. 9/12 presented the Ph chromosome as a single anomaly at the moment of diagnosis; the other 3 presented a distinct anomaly. 4/9 presented additional abnormalities moving to the stages AP or BP between 4-8 months after initial discovery. 7/10 patients referred in AP or BP presented additional abnormalities in the Ph chromosome. It is evident that the chromosome study of each patient with CML must be carried out at least once a year in order to detect chromosomal abnormalities in addition to the Ph chromosome. Thus, a greater therapeutic control of the disease is possible.

[Hereditary diseases and congenital malformations at the Unit of Medical Genetics of the University of Zulia. Years: 1983-1992]. / Enfermedades hereditarias y malformaciones congénitas en la Unidad de Genética Médica de la Universidad del Zulia. Años: 1983-1992.

The Medical Genetics Unit at Universidad del Zulia (UGM-LUZ) gives counsel to patients with partial and total genetic diseases. Counseling is available for patients of both sexes and all ages, from public and private health centers and several medical specialities. In the present study an analysis of 4617 clinical records from families referred for genetic counseling to the UGM-LUZ is given. The study spans from January 1983 to December 1992. Fifty four (1.2%) of these histories correspond to pre-nuptial counseling, 773 (16.7%) pre-conceptional, 316 (6.8%) pre-natal and 3474 (75.3%) for diagnosis. A computerized system was developed, based on relational data base manager, that permits access with interactive Dbase type applications. A total of 5433 diagnoses were made. The most frequent causes of genetic diseases were chromosomal abnormalities (12.32%), mainly Down and Turner syndromes. Mendelian diseases occupied 14.45% of all cases, with Marfan and Noonan syndrome, Osteogenesis imperfecta. Duchenne-Becker muscular dystrophy and Incontinentia Pigmenti as the most frequent syndromes. Diseases that involve multifactorial inheritance, such as neural tube defects, accounted for 7.36% of all diagnosis. Effects of teratogenic agents such as german measles, radiations and others were detected in 3.96% of all cases. In 8.5% of the patients a hereditary factor was suspected. No definitive diagnosis was reached in 32.45% of all cases and 20.96% of the patients were normal. The need for data from other medical genetic centers is stressed. In this way the regional and national genetic diseases on morbidity can be known.

Clinical experience with balanced reciprocal translocations.

Clinical experience with balanced reciprocal translocations: In order to evaluate past experience with respect to the occurrence of balanced reciprocal translocations (BRT) in patients with malformation syndromes and/or mental retardation (MS/MR) and in couples with reproductive failure, 4,335 karyotypes from the Genetics Unit of the Universidad del Zulia from January 1971 to December 1994 were reviewed, resulting in the identification of 15 cases of BRT (0.34%). All BRT were classic (CT) according to the number of breakpoints. In 66.6% of the cases, the indication for chromosome analysis was a MS/MR; 20% reproductive failure and, in 13.3% the BRT was a fortuitous finding. BRT were of familial origin in 6/15 (40%), 3/15 (20%) were de novo and the other 6/15 (40%) were of unknown origin. It was concluded that BRT can affect the phenotype, particularly when the request for the karyotype is motivated by MS/MR, and that genetic counseling in individuals at risk to be carrier is indicated.

[Application of the high resolution chromosomic technic in patients in high risk of cytogenetic anomalies]. / Aplicación de la técnica de Alta Resolución Cromosómica en pacientes con alto riesgo para anomalías citogenéticas.

Since the beginning of cytogenetics, there has been a constant improvement of chromosomal culture and banding techniques. In 1976, Yunis described a high chromosomal resolution technique (HRC), that permits the detection of subtle chromosomal abnormalities. The present work, reports the results obtained when HRC was applied to the study of chromosomal abnormalities in patients with high risk of such. The study comprised 434 specimens of venous blood and 182 bone marrow aspirates. The samples were classified according to the presuntive diagnoses. The highest frequency of chromosomal abnormalities, was found in blood samples from patients with physical deformities with or without mental retardation (22.22%), followed by mental retardation autism and/or fragile X chromosome (13.66%), and in couples with reproductive disorders (5.8%). In bone marrow, the most frequent abnormalities corresponded to patients with chronic myeloid leukemia (78.43%), acute lymphocytic leukemia (62.10%), acute myeloide leukemia (61.9%), myelodisplastic syndromes (43.7%) and chronic lymphocytic leukemia (14.2%). The present results stress the need to apply the HRC technique when the probability of minute chromosomal abnormalities is high.

[Significance of chromosome changes in chronic myeloid leukemia]. / Importancia de las alteraciones cromosómicas en la leucemia mieloide crónica.

Chronic myelocytic leukemia is a particular subtype of leukemia characterized by increased myeloid precursor cells. It has been associated with the presence of the Philadelphia chromosome, described by Nowel and Hungerford in 1960, as a deletion of part of the long arm of a G group chromosome, the 22 chromosome. The present work reports the chromosomal abnormalities observed in 39 patients with chronic myelocytic leukemia, studied at the Genetic Unit, in the Faculty of Medicine of Zulia University, during the period from 1987 to 1991. Sixty per cent of the patients showed different abnormalities, such as 8 trisomy, t (8;22), and in the remaining 15%, no chromosomal changes were detected. The patients with t (9;22) as the only abnormality, had less relapses and longer survival. The clinical course of 50% of the patients with normal karyotype was similar to those with t (9;22) as the only abnormality; the other 50% had an accelerated course with frequent relapses and early death. The present findings confirm that the presence of the Philadelphia chromosome as the only karyotypical abnormality, is indicative of better prognosis, and its association with other chromosomal changes predicts a more accelerated course that will probably require a more aggressive treatment.