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Knowledge of baleen whales' reproductive physiology is limited and requires long-term individual-based studies and innovative tools. We used 6 years of individual-level data on the Pacific Coast Feeding Group gray whales to evaluate the utility of faecal progesterone immunoassays and drone-based photogrammetry for pregnancy diagnosis. We explored the variability in faecal progesterone metabolites and body morphology relative to observed reproductive status and estimated the pregnancy probability for mature females of unknown reproductive status using normal mixture models. Individual females had higher faecal progesterone concentrations when pregnant than when presumed non-pregnant. Yet, at the population level, high overlap and variability in progesterone metabolite concentrations occurred between pregnant and non-pregnant groups, limiting this metric for accurate pregnancy diagnosis in gray whales. Alternatively, body width at 50% of the total body length (W50) correctly discriminated pregnant from non-pregnant females at individual and population levels, with high accuracy. Application of the model using W50 metric to mature females of unknown pregnancy status identified eight additional pregnancies with high confidence. Our findings highlight the utility of drone-based photogrammetry to non-invasively diagnose pregnancy in this group of gray whales, and the potential for improved data on reproductive rates for population management of baleen whales generally.
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Many juvenile Kemp's ridley (Lepidochelys kempii) and loggerhead (Caretta caretta) turtles strand during fall on the beaches of Cape Cod (MA, USA), with total stranding numbers sometimes exceeding 300 turtles per year. Once rehabilitated, turtles must be released at beaches with appropriate water temperatures, often requiring transportation to southeastern coastal states of the USA. These transportation events (transports) may approach or exceed 24 h in duration. Kemp's ridley turtles are known to exhibit an adrenal stress response during such transports, but the effect of transport duration has been unclear, and no other sea turtle species has been investigated. To assess whether transport duration and/or species affects physiological reactions to transport, we studied pre- and post-transport physiological measures in Kemp's ridley and loggerhead turtles transported by ground for <6, â¼12, â¼18, or â¼24 h, comparing with matched "control events" in which turtles were studied without transport. Blood samples were analyzed for four stress-associated measures (corticosterone, glucose, total white blood cell [WBC] count, and heterophil/lymphocyte ratio [H/L]) and nine measures of clinical status (pH, pO2, pCO2, HCO3, sodium, potassium, ionized calcium, lactate, and hematocrit). In both species, stress-associated measures elevated significantly during transport, while handling without transport had no significant effects. Loggerheads exhibited a greater stress response than Kemp's ridleys across all transport durations. These results indicate that sea turtles do react physiologically to ground transport; therefore, minimizing transport time and streamlining transport logistics (where feasible) may help ensure release of rehabilitated turtles to sea in the best possible condition. Nonetheless, both species remained in good clinical condition even after 24 h transport, indicating that current transport protocols are generally safe for sea turtles from a clinical perspective.
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Evaluating ovarian cycle activity through longitudinal progestagen monitoring is important for optimizing breeding management of captive elephants and understanding impact of life events (births, deaths, and transfers) on reproductive function. This study summarized serum progestagen profiles for eight Asian mainland elephants (Elephas maximus indicus) and one Bornean elephant (E. maximus borneensis) at the Oregon Zoo over a 20-yr interval, and represents the longest longitudinal dataset evaluated to date. Estrous cycle characteristics were more varied than previously reported for this species, with an overall duration of 12 to 19 wk, luteal phase duration of 4 to 15 wk, and follicular phase duration of 2 to 12 wk. In general, there was more cycle variability across than within individual elephants. Compared with other elephants in the group, the Borneo female exhibited consistently longer cycle lengths, higher progestagen concentrations, and greater cycle variability; however, it is not known if this represents a subspecies or an individual difference. Cycle durations did not appear to change over time or with age, and the first pubertal cycle was similar to subsequent cycles. Variability in duration of the follicular phase was greater than that of the luteal phase. In addition, there was a significant negative relationship between luteal and follicular phase durations, suggesting a possible regulatory role of the follicular phase in maintaining a relatively consistent cycle duration within individuals. Overall, we found these elephants to be highly resilient in that major life events (births, deaths, and changes in herd structure) had minimal effect on cycle dynamics over time. In conclusion, the higher range in cycle phase characteristics is likely because of the larger number of elephants studied and longer duration of longitudinal monitoring, and may be more representative of the captive population as a whole. Furthermore, identification of significant interanimal variability suggests that understanding the complexities of herd reproductive characteristics could facilitate development of more effective institution-specific breeding management strategies.
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Animales de Zoológico , Elefantes/fisiología , Ciclo Estral/fisiología , Envejecimiento , Animales , Femenino , Estudios Longitudinales , Oregon , Embarazo , Progestinas/sangre , Progestinas/metabolismo , Radioinmunoensayo , Factores de TiempoRESUMEN
The diagnosis of mantle cell lymphoma (MCL) requires a multifaceted approach with integration of morphology and immunophenotype, supported by cyclin D1 positivity or identification of t(11;14)(q13;q32). Interphase fluorescence in situ hybridisation (FISH) using a dual colour, dual fusion probe strategy for t(11;14) is a rapid test with high sensitivity and specificity for MCL, and is easily performed on routine bone marrow aspirate or peripheral blood specimens. This test has become the method of choice for many pathologists to confirm a diagnosis of MCL. This report describes a case of MCL with a normal (negative) FISH signal pattern for t(11;14) that was found to be cyclin D1 positive by immunohistochemistry in tissue sections. This case illustrates the need for additional testing when the t(11;14) abnormality is not identified but the morphology and immunophenotype are otherwise suggestive of MCL.
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Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 14/genética , Linfoma de Células del Manto/genética , Translocación Genética , Anciano , Biomarcadores de Tumor/análisis , Ciclina D1/análisis , Humanos , Hibridación Fluorescente in Situ , Linfoma de Células del Manto/diagnóstico , Linfoma de Células del Manto/patología , MasculinoRESUMEN
An isolated population of dark-eyed juncos, Junco hyemalis, became established on the campus of the University of California at San Diego (UCSD), probably in the early 1980s. It now numbers about 70 breeding pairs. Populations across the entire natural range of the subspecies J. h. thurberi are weakly differentiated from each other at five microsatellite loci (FST = 0.01). The UCSD population is significantly different from these populations, the closest of which is 70 km away. It has 88% of the genetic heterozygosity and 63% of the allelic richness of populations in the montane range of the subspecies, consistent with a harmonic mean effective population size of 32 (but with 95% confidence limits from four to > 70) over the eight generations since founding. Results suggest a moderate bottleneck in the early establishment phase but with more than seven effective founders. Individuals in the UCSD population have shorter wings and tails than those in the nearby mountains and a common garden experiment indicates that the morphological differences are genetically based. The moderate effective population size is not sufficient for the observed morphological differences to have evolved as a consequence of genetic drift, indicating a major role for selection subsequent to the founding of the UCSD population.
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Evolución Biológica , Efecto Fundador , Variación Genética , Genética de Población , Pájaros Cantores/genética , Animales , California , Cartilla de ADN , Frecuencia de los Genes , Repeticiones de Microsatélite/genética , Oregon , Selección Genética , Pájaros Cantores/anatomía & histología , Cola (estructura animal)/anatomía & histología , Alas de Animales/anatomía & histologíaRESUMEN
PURPOSE: We present the clinical, genetic and histopathologic findings in two siblings with Muscle-Eye-Brain Disease (MEB-D), an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities. METHODS: Clinical, histopathologic and gene mapping studies of a family with two normal and two children with MEB-D. RESULTS: Two siblings presented in the first few months of life with developmental delay, hypotonia, and strabismus. MRI of the brain showed colpocephaly, pontine and cerebellar atrophy, and diffuse white matter disease. Both patients were blind and had high myopia, strabismus, and retinal and optic nerve abnormalities. The older boy had glaucoma. Both children died from uncontrolled seizures. There was retinal, choroidal and RPE atrophy and optic nerve hypoplasia on ocular histopathology. Both patients shared the same parental haplotypes at the MEB locus on chromosome 1p, while an unaffected sibling did not, indicating possible linkage to the MEB locus. CONCLUSIONS: Patients with MEB-D have severe visual impairment from retinal and optic nerve hypoplasia. High myopia appears to be a consistent finding. The ocular manifestations of MEB-D appear to be distinct from those of patients with Walker-Warburg syndrome.
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Anomalías Múltiples/genética , Encéfalo/anomalías , Anomalías del Ojo/genética , Enfermedades Hereditarias del Ojo/genética , Discapacidad Intelectual/genética , Distrofias Musculares/genética , Retina/anomalías , Anomalías Múltiples/patología , Encéfalo/patología , Cromosomas Humanos Par 1/genética , Anomalías del Ojo/patología , Enfermedades Hereditarias del Ojo/patología , Resultado Fatal , Femenino , Genotipo , Glaucoma/congénito , Humanos , Lactante , Discapacidad Intelectual/patología , Imagen por Resonancia Magnética , Masculino , Distrofias Musculares/congénito , Distrofias Musculares/patología , Hipotensión Ocular/genética , Nervio Óptico/anomalías , Nervio Óptico/patología , Linaje , Retina/patología , Hermanos , Estrabismo/genéticaRESUMEN
Noninvasive fecal glucocorticoid analysis has tremendous potential as a means of assessing stress associated with environmental disturbance in wildlife. However, interspecific variation in excreted glucocorticoid metabolites requires careful selection of the antibody used in their quantification. We compared four antibodies for detecting the major fecal cortisol metabolites in yellow baboons following (3)H cortisol administration, ACTH challenge, and HPLC separation of fecal glucocorticoid metabolites. The most effective antibody (ICN corticosterone RIA; Cat. No. 07-120102) demonstrated relatively high cross-reactivities to the major cortisol metabolites present in feces during peak excretion, following both radiolabel infusion and ACTH challenge. This same antibody also detected increased fecal glucocorticoid metabolites after ACTH administration in the African elephant, black rhinoceros, Roosevelt elk, gerenuk, scimitar-horned oryx, Alaskan sea otter, Malayan sun bear, cheetah, clouded leopard, longtailed macaque, and northern spotted owl. Results suggest that (1) fecal glucocorticoid assays reliably detect endogenous changes in adrenal activity of a diverse array of species and (2) where comparisons were made, the ICN corticosterone antibody generally was superior to other antibodies for measuring glucocorticoid metabolites in feces.
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Animales Salvajes , Aves , Heces/química , Glucocorticoides/análisis , Mamíferos , Hormona Adrenocorticotrópica , Animales , Antílopes , Especificidad de Anticuerpos , Carnívoros , Cromatografía Líquida de Alta Presión , Elefantes , Ambiente , Femenino , Hidrocortisona/análisis , Hidrocortisona/metabolismo , Macaca , Masculino , Nutrias , Papio , Radioinmunoensayo , Especificidad de la Especie , Estrés Fisiológico/etiología , Estrés Fisiológico/metabolismo , Estrigiformes , Tritio , UrsidaeRESUMEN
The Werner syndrome gene (WRN) encodes a novel helicase of 1,432 amino acids. Homozygous mutations, all of which result in the truncation of the protein, lead to Werner syndrome. However, little is known about the role of WRN in "normal" aging. We have identified four missense polymorphisms and four conservative polymorphsims in WRN gene. A single study showed that a polymorphism at amino acid 1367 Cys(TTG)/ Arg(CTG) is associated with a variation in risk of myocardial infarction among a Japanese population. The 1367 Cys/Arg polymorphism was examined during aging in three different populations: Finnish, Mexican, and North American. The frequencies of 1367 Cys were higher than those of 1367 Arg in all the populations examined, though the frequencies varied among populations. The frequency of the 1367 Arg allele, thought to be protective against myocardial infarction in a Japanese population, was approximately three times higher in the North American and Finnish adult populations. When newborns and centenarians were compared within the Finnish population, no differences were observed in the proportions of 1367 Cys/Arg across age groups. Within the Finnish population, we confirmed a significant decrease of the APOE epsilon2 allele and an increase in the epsilon4 allele in newborn infants compared with centenarians. Thus, unlike the APOE polymorphism, there is no evidence of an association of this WRN polymorphism with longevity.
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Polimorfismo Genético , Síndrome de Werner/genética , Adulto , Anciano , Anciano de 80 o más Años , Envejecimiento , Apolipoproteínas E/genética , Sangre/metabolismo , Sangre Fetal/metabolismo , Finlandia , Frecuencia de los Genes , Genotipo , Humanos , Recién Nacido , Persona de Mediana Edad , Modelos Genéticos , Mutación Missense , Polimorfismo de Longitud del Fragmento de Restricción , Síndrome de Werner/etnologíaRESUMEN
The Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by mutations in a novel member ( WRN ) of the RecQ family of helicases. Somatic WS cells are hypermutable and have elongated S phases, suggesting possible defects in DNA replication and/or repair. As an initial approach to the investigation of how this locus might be responsive to DNA damage, we determined the structure of the human WRN promoter. The WRN promoter region has two transcription initiation sites and exhibits several features characteristic of so-called constitutive promoters, including the absence of TATA and CAAT boxes. A luciferase reporter assay revealed that the upstream promoter was used 2-10-fold less frequently than the downstream promoter, the variation being a function of cell type. The activity of the WRN promoter was dramatically reduced in cells from WS patients. The reduction of activity was not seen in three other promoters tested, including one TATA-less promoter and one TATA-containing promoter. This is consistent with the presence of a positive regulatory mechanism of WRN expression.
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Regulación de la Expresión Génica , Regiones Promotoras Genéticas , Transcripción Genética , Síndrome de Werner/genética , Secuencia de Bases , Línea Celular Transformada , Mapeo Cromosómico , Células HeLa , Humanos , Datos de Secuencia Molecular , ARN MensajeroRESUMEN
We report the case of a 43-year-old man who presented with painless proptosis of the right eye of 6 weeks' duration. Examination demonstrated a tense right orbit and decreased vision and extraocular motility bilaterally. Diagnostic evaluation included computed tomographic imaging of the head and orbits, a therapeutic trial of high-dose systemic corticosteroids, and orbital biopsy, which revealed the presence of metastatic adenocarcinoma. The primary tumor was found to be an estrogen-receptor-positive, infiltrating ductal adenocarcinoma of the right breast. Therapy included lumpectomy of the breast mass, orbital irradiation, and hormonal therapy. Metastatic carcinoma of the breast should be considered in the differential diagnosis of orbital neoplastic disease in the male patient.
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Neoplasias de la Mama Masculina/patología , Carcinoma Ductal de Mama/secundario , Neoplasias Orbitales/secundario , Adulto , Biopsia con Aguja , Neoplasias de la Mama Masculina/metabolismo , Neoplasias de la Mama Masculina/terapia , Carcinoma Ductal de Mama/metabolismo , Carcinoma Ductal de Mama/terapia , Terapia Combinada , Humanos , Masculino , Mastectomía Segmentaria , Órbita/diagnóstico por imagen , Neoplasias Orbitales/metabolismo , Neoplasias Orbitales/terapia , Receptores de Estrógenos/metabolismo , Tomografía Computarizada por Rayos XAsunto(s)
Anestesia General/efectos adversos , Hemorragia Retrobulbar/etiología , Anciano , Femenino , Humanos , Intubación Intratraqueal , Implantación de Lentes Intraoculares , Imagen por Resonancia Magnética , Órbita/patología , Facoemulsificación , Hemorragia Retrobulbar/diagnóstico , TrabeculectomíaRESUMEN
Immortalized B lymphocytes from Werner syndrome subjects are shown to be hypersensitive to 4-nitroquinoline-1-oxide (4NQO), supporting earlier work on T lymphocytes. We also show that B cell lines from clinically normal heterozygous carriers exhibit sensitivities to this genotoxic agent, which are intermediate to those of wild-type and homozygous mutants. 4NQO is shown to induce an apoptotic response. These data encourage research on DNA repair with such cell lines and raise the question of an enhanced sensitivity of the relatively prevalent heterozygous carriers to certain environmental genotoxic agents.
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4-Nitroquinolina-1-Óxido/farmacología , Apoptosis/genética , ADN Helicasas/genética , Heterocigoto , Mutágenos/farmacología , Síndrome de Werner/genética , Linfocitos B/efectos de los fármacos , Línea Celular , Relación Dosis-Respuesta a Droga , Exodesoxirribonucleasas , Homocigoto , Humanos , Mutación , Fenotipo , RecQ Helicasas , Síndrome de Werner/enzimología , Helicasa del Síndrome de WernerRESUMEN
PURPOSE: To report severe scarring in a corneal graft after excimer laser photorefractive keratectomy. METHODS: A 35-year-old man underwent photorefractive keratectomy twice for severe compound myopic astigmatism and anisometropia after penetrating keratoplasty. RESULTS: Corneal opacity corresponded to areas of irregular epithelial thickness, focal absence of the basement membrane, loss of Bowman's layer, and stromal scarring in the ablation zone. CONCLUSION: There may be an increased risk of severe corneal stromal scarring from photorefractive keratectomy in eyes that have had previous penetrating keratoplasty.
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Cicatriz/etiología , Córnea/cirugía , Enfermedades de la Córnea/etiología , Queratoplastia Penetrante , Queratectomía Fotorrefractiva/efectos adversos , Adulto , Astigmatismo/etiología , Astigmatismo/cirugía , Cicatriz/patología , Cicatriz/cirugía , Córnea/patología , Enfermedades de la Córnea/patología , Enfermedades de la Córnea/cirugía , Opacidad de la Córnea/etiología , Opacidad de la Córnea/patología , Humanos , Queratocono/cirugía , Queratoplastia Penetrante/efectos adversos , Láseres de Excímeros , Masculino , Miopía/etiología , Miopía/cirugía , Complicaciones Posoperatorias , ReoperaciónRESUMEN
PURPOSE: The authors discovered an unusually high incidence of Aspergillus endophthalmitis in an autopsy series of orthotopic liver transplantation recipients. This study was conducted to discern the frequency, topographic distribution, and potential significance of the infections. METHODS: Autopsy reports from liver transplant patients were reviewed. All patients with Aspergillus endophthalmitis were studied by gross and histologic examination. Histologic sections were stained with Grocott-Gomori methenamine-silver nitrate and periodic acid-Schiff stains. Some Grocott-Gomori methenamine-silver nitrate stained sections were counterstained with hematoxylin-eosin. The distribution of ocular infections in the eye was determined for each patient. The organs infected were determined at autopsy. RESULTS: The authors found seven patients with Aspergillus endophthalmitis. Six of these seven patients were from a group of 85 (7.1%) orthotopic liver transplantation recipients. Fourteen (16.5%) orthotopic liver transplantation recipients had invasive pulmonary aspergillosis and ten (11.8%) had disseminated disease. The eyes were the second most common site of infection. Two patients had ocular involvement as the only nonpulmonary site of infection. Aspergillus endophthalmitis was diagnosed in only one patient before death. Infection was located posterior to the equator in all patients; three patients were anterior to the equator as well. The retina (5/7), vitreous (5/7), and choroid (3/7) were common sites of infection. CONCLUSIONS: This is the first report of Aspergillus endophthalmitis associated with orthotopic liver transplantation recipients. Patients with orthotopic liver transplants are unusually susceptible to invasive aspergillosis and Aspergillus endophthalmitis. Aspergillus infection is frequently bilateral, begins posteriorly in the retina or choroid, and has vitreous involvement. Recognition of this entity is important because many patients die of disseminated Aspergillus infection that may be detected early with bedside funduscopic examination.
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Aspergilosis/etiología , Endoftalmitis/microbiología , Infecciones Fúngicas del Ojo/etiología , Trasplante de Hígado/efectos adversos , Adolescente , Adulto , Anciano , Aspergilosis/patología , Aspergillus/aislamiento & purificación , Niño , Preescolar , Endoftalmitis/patología , Ojo/microbiología , Ojo/patología , Infecciones Fúngicas del Ojo/patología , Femenino , Fungemia/etiología , Humanos , Incidencia , Lactante , Pulmón/microbiología , Enfermedades Pulmonares Fúngicas/etiología , Masculino , Persona de Mediana EdadRESUMEN
Of 711 patients with histologically proven carcinoma of the breast, 94 patients aged 65 years or older were treated primarily by operation. The long-term survival was comparable to that in the general population with breast cancer despite a high percentage of noncancer death from intercurrent disease. Surgical therapy appropriate for the stage of disease can be performed with acceptable morbidity and mortality. Elderly patients often present with advanced disease but should not be denied the benefits of surgical palliation strictly on the basis of age.