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The North Atlantic Basin (NAB) has seen an increase in the frequency and intensity of tropical cyclones since the 1980s, with record-breaking seasons in 2017 and 2020. However, little is known about how coastal ecosystems, particularly mangroves in the Gulf of Mexico and the Caribbean, respond to these new "climate normals" at regional and subregional scales. Wind speed, rainfall, pre-cyclone forest height, and hydro-geomorphology are known to influence mangrove damage and recovery following cyclones in the NAB. However, previous studies have focused on local-scale responses and individual cyclonic events. Here, we analyze 25 years (1996-2020) of mangrove vulnerability (damage after a cyclone) and 24 years (1996-2019) of short-term resilience (recovery after damage) for the NAB and subregions, using multi-annual, remote sensing-derived databases. We used machine learning to characterize the influence of 22 potential variables on mangrove responses, including human development and long-term climate trends. Our results document variability in the rates and drivers of mangrove vulnerability and resilience, highlighting hotspots of cyclone impacts, mangrove damage, and loss of resilience. Cyclone characteristics mainly drove vulnerability at the regional level. In contrast, resilience was driven by site-specific conditions, including long-term climate trends, pre-cyclone forest structure, soil organic carbon stock, and coastal development (i.e., proximity to human infrastructure). Coastal development is associated with both vulnerability and resilience at the subregional level. Further, we highlight that loss of resilience occurs mostly in areas experiencing long-term drought across the NAB. The impacts of increasing cyclone activity on mangroves and their coastal protection service must be framed in the context of compound climate change effects and continued coastal development. Our work offers descriptive and spatial information to support the restoration and adaptive management of NAB mangroves, which need adequate health, structure, and density to protect coasts and serve as Nature-based Solutions against climate change and extreme weather events.
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Dust plays a vital role in climate and biophysical feedbacks in the Earth system. One source of dust, the Bodélé Depression in Chad, is estimated to produce about half the mineral aerosols emitted from the Sahara, which is the world's largest source. By using a variety of new remote sensing data, regional modeling, trajectory models, chemical analyses of dust, and future climate simulations, we investigate the current and past sensitivity of the Bodélé. We show that minor adjustments to small features of the atmospheric circulation, such as the Bodélé Low-Level Jet, could profoundly alter the behavior of this feature. Dust production during the mid-Holocene ceased completely from this key source region. Although subject to a great deal of uncertainty, some simulations of the 21st century indicate the potential for a substantial increase in dust production by the end of the century in comparison with current values.
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The objective of this study is to quantify the nature of the mechanisms of southern Africa rainfall variability, unrelated to the El Nino Southern Oscillation, by means of a simple empirical composite analysis, as a baseline for a more detailed study.
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Preimplantation genetic diagnosis (PGD) is a new strategy, orientated toward primary prevention of congenital anomalies in couples with reproductive risk, such as advanced maternal age, carriers of chromosomal abnormalities, and carriers of monogenic conditions. For these patients, PGD is an acceptable alternative to prenatal diagnosis, mainly in those countries where pregnancy interruption is forbidden by law. PGD effectively avoids the implications linked to traditional prenatal diagnosis. Centres that provide medical servicies on reproductive biomedicine are responsible for the development and improvement of this new prevention strategy. Thanks to advances in micromanipulation techniques, associated with recent progress in molecular genetics, PGD may be employed for any genetic condition in the future.
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The hereditary paraplegias are a heterogeneous group of genetic disorders characterized mainly by spastic paraparesis, which may be found as an isolated "pure form" known as Strümpell-Lorrain syndrome, or associated with a wide group of other manifestations [Harding, 1990; McKusick, 1994]. We studied two unrelated families, one with five members and the other with 11 members (over four generations), affected by a syndrome of late onset spastic paraparesis and dementia. Both pedigrees suggest an autosomal dominant pattern of inheritance. However, this cannot be concluded definitely because male-to-male transmission was not seen. Since this disorder has a late age of onset, we still do not know who will become affected in the second, third, and fourth generations. The association of late onset spastic paraparesis and dementia, without other pathological findings, has not been reported and probably represents a distinct entity.
Asunto(s)
Demencia/genética , Paraparesia Espástica Tropical/genética , Paraplejía/genética , Adulto , Electromiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , LinajeRESUMEN
A father and son with unusual congenital skeletal symptoms, mainly characterized by short stature and epiphyseal dysplasia limited to the femoral heads are described. The comparative analysis with other spondyloepiphyseal dysplasias supports the notion that the syndrome reported here is a distinct autosomal dominant connective tissue disorder.
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Aberraciones Cromosómicas/genética , Epífisis/anomalías , Cabeza Femoral/anomalías , Genes Dominantes/genética , Osteocondrodisplasias/genética , Adulto , Trastornos de los Cromosomas , Enanismo/diagnóstico por imagen , Enanismo/genética , Epífisis/diagnóstico por imagen , Cabeza Femoral/diagnóstico por imagen , Humanos , Lactante , Masculino , Osteocondrodisplasias/diagnóstico por imagen , RadiografíaRESUMEN
We present a family in which five members over three generations have a syndrome characterized by camptodactyly, flattened bodies of cervical vertebrae, and a variable degree of thoracic scoliosis. After excluding other camptodactyly syndromes, it was concluded that this association of anomalies probably represents a new autosomal dominant syndrome.
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Vértebras Cervicales/anomalías , Dedos/anomalías , Genes Dominantes , Escoliosis/genética , Adolescente , Vértebras Cervicales/diagnóstico por imagen , Femenino , Humanos , Masculino , Linaje , Radiografía , SíndromeRESUMEN
Introducción. La condrodisplasia metafisiaria tipo Schmid (CMS), es una entidad genética con patrón de herencia autosómica dominante, cuyas principales manifestaciones clínicas son encurvamiento progresivo de las extremidades inferiores y talla baja moderada. Sus principales hallazgos radiológicos son: ensanchamiento de la epífisis capital femoral (observable solamente durante la infancia temprana), alteraciones de la osificación metafisiaria, principalmente de la metáfisis distal del fémur y ensanchamiento de los extremos anteriores de las costillas. La enfermedad de Sphar es una displasia esquelética que solamente puede diferenciarse de la CMS porque presenta un patrón de herencia del tipo autosómico recesivo y porque probablemente carece del ensanchamiento de la epífisis capital del fémur. Casos clínicos. Presentamos 3 pacientes (1 adulto y 2 infantes), quienes presentan características fenotípicas y hallazgos radiológicos concordantes con el diagnóstico de CMS. Este diagnóstico fue establecido después de haber revisado las displasias esqueléticas caracterizadas por poseer un compromiso predominantemente metafisiario. Conclusiones. Aunque las características radiológicas son muy útiles para establecer un diagnóstico apropiado, en aquellos casos en los cuales el estudio de la genealogía no es informativo, el diagnóstico diferencial con la enfermedad de Sphar únicamente podría establecerse si se realizan estudios radiológicos en la infancia temprana. Sin embargo, se requiere de mayor información sobre la enfermedad de Sphar, pues hasta el momento excisten muy pocos casos registrados en la literatura
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Preescolar , Adulto , Humanos , Masculino , Diagnóstico Diferencial , Diagnóstico por Imagen , Exostosis Múltiple Hereditaria/genética , Exostosis Múltiple HereditariaRESUMEN
The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth. This is the seventh reported case, and the first one in which the patient also presents with optic atrophy. Autosomal recessive inheritance has been proposed until now, however, the increased paternal age seen in this case is suggestive of a possible autosomal dominant de novo mutation.
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Anomalías Múltiples/genética , Cara/anomalías , Trastornos del Crecimiento/genética , Discapacidad Intelectual/genética , Preescolar , Genes Dominantes , Humanos , Masculino , Mutación , Atrofia Óptica/genética , SíndromeRESUMEN
A male clinically affected by the OEIS complex was studied. His mother, aged 30 years, has an affective disorder and ingested 30 mg of Diazepam daily, from 3 months previous to the gestation and during the entire pregnancy. At birth, a closure during the entire pregnancy. At birth, a closure defect of the anterior abdominal wall, exstrophy of hemibladders, exposure of intestinal epithelium, abnormal pelvis, imperforate anus, and bifid penis were noted. Birth weight was 3600 g and other measurements were not recorded. Colostomy was performed in the postnatal period followed by partial closure of the abdominal wall defect, and iliac osteotomies. At six years, 6 months of age, physical examination showed somatometric measurements around the third percentile (height 109 cm, weight 17 kg, cephalic circumference 48.5 cm). Clinically he presented mild mental retardation, functional colostomy, incomplete closure of the vesical exstrophy, imperforate anus, bifid penis and scrotum, descended testes, diastasis of pubis, lumbosacral scoliosis and shortening of the left leg (clinical photograph of the external features is not included as we were not able to obtain authorization to do so). Radiological studies (Figure 1) revealed wide separation of the ischiopubic bones; lumbosacral region with rotoscoliosis, platyspondyly and dysraphism; left coxa valga, and right coxa vara. The abdominal ultrasonographic studies showed unilateral renal agenesis (left). Chromosomal analysis (GTG bands) in peripheral blood lymphocyte cultures demonstrated a normal 46,XY constitution. Exposure to other substances, particularly alcohol, were excluded with the study of the mother's medical history and through information obtained from relatives.(ABSTRACT TRUNCATED AT 250 WORDS)
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Anomalías Inducidas por Medicamentos , Anomalías Múltiples/inducido químicamente , Diazepam/efectos adversos , Anomalías Inducidas por Medicamentos/diagnóstico por imagen , Anomalías Múltiples/diagnóstico por imagen , Adulto , Ano Imperforado/inducido químicamente , Extrofia de la Vejiga/inducido químicamente , Femenino , Hernia Umbilical/inducido químicamente , Humanos , Recién Nacido , Masculino , Embarazo , Radiografía , Disrafia Espinal/inducido químicamenteRESUMEN
The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented in the past. Few data are reported on the radiological skeletal changes and findings. The purpose of the present paper is to describe the clinical and radiological findings in two brothers with Aarskog syndrome and to further delineate the radiological characteristics of this condition. The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth fingers, short and broad first metacarpals and metatarsals and pelvic hypoplasia.
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Anomalías Múltiples/genética , Huesos Faciales/anomalías , Dedos/anomalías , Genitales Masculinos/anomalías , Aberraciones Cromosómicas Sexuales/genética , Cráneo/anomalías , Cromosoma X , Anomalías Múltiples/diagnóstico por imagen , Determinación de la Edad por el Esqueleto , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/genética , Huesos/diagnóstico por imagen , Preescolar , Enanismo/diagnóstico por imagen , Enanismo/genética , Huesos Faciales/diagnóstico por imagen , Dedos/diagnóstico por imagen , Genes Recesivos/genética , Genitales Masculinos/diagnóstico por imagen , Humanos , Masculino , Cráneo/diagnóstico por imagen , SíndromeRESUMEN
We describe seven patients from two Mexican families with congenital macroglossia. Comparative analysis of these cases and the patients previously described in literature, allows to confirm the notion that this isolated primary macroglossia is a distinct dominant condition.
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Genes Dominantes/genética , Macroglosia/genética , Adulto , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Lactante , Cariotipificación , Masculino , Linaje , Embarazo , SíndromeRESUMEN
Deletion of the short arm of chromosome number 3, has been proposed as a distinctive syndrome, all cases are "de novo" deletions and the band 3p26 was systematically involved. The comparative study of the 21 reviewed cases (including one reported here) allows to conclude that there is no consistent association to delineate a typical clinical syndrome.