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[This corrects the article DOI: 10.1016/j.banm.2020.04.007.].
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Since Antiquity, pandemics periodically strike humanity. Plagues of Athens, galenic, justinianic, and medieval plagues provoked millions of deaths, and subsequent famines and socio-political changes. Smallpox was a scourge affecting the royal courts too. The influenza H1N1 of 1917 brought more deaths than the Great War. The decline of Europe benefited to the USA, dominant power during the XXth century. The present pandemic of coronavirus Covid-19 will have important economic consequences, some of then being unsuspected yet.
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Salmon life histories are finely tuned to local environmental conditions, which are intimately linked to climate. We summarize the likely impacts of climate change on the physical environment of salmon in the Pacific Northwest and discuss the potential evolutionary consequences of these changes, with particular reference to Columbia River Basin spring/summer Chinook (Oncorhynchus tshawytscha) and sockeye (Oncorhynchus nerka) salmon. We discuss the possible evolutionary responses in migration and spawning date egg and juvenile growth and development rates, thermal tolerance, and disease resistance. We know little about ocean migration pathways, so cannot confidently suggest the potential changes in this life stage. Climate change might produce conflicting selection pressures in different life stages, which will interact with plastic (i.e. nongenetic) changes in various ways. To clarify these interactions, we present a conceptual model of how changing environmental conditions shift phenotypic optima and, through plastic responses, phenotype distributions, affecting the force of selection. Our predictions are tentative because we lack data on the strength of selection, heritability, and ecological and genetic linkages among many of the traits discussed here. Despite the challenges involved in experimental manipulation of species with complex life histories, such research is essential for full appreciation of the biological effects of climate change.
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We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.
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Enfermedades en Gemelos , Asesoramiento Genético , Diagnóstico Prenatal , Síndrome de Turner/diagnóstico , Gemelos Monocigóticos , Adulto , Líquido Amniótico , Coartación Aórtica/complicaciones , Coartación Aórtica/genética , Coartación Aórtica/cirugía , Anomalías Congénitas/genética , ADN/análisis , Femenino , Sangre Fetal , Retardo del Crecimiento Fetal/diagnóstico por imagen , Humanos , Cariotipificación , Linfocitos/química , Mosaicismo , Cuello/anomalías , Fenotipo , Embarazo , Síndrome de Turner/genética , Ultrasonografía PrenatalRESUMEN
AIMS: Precocious puberty has been more frequently observed in the population of children adopted from abroad. A study was therefore carried out to assess the prevalence of this early onset of puberty. POPULATION AND METHODS: In this study, 13 cases of precocious puberty have been examined in ten adopted girls and three adopted boys, and the clinical characteristics and other contributing factors have been described. In this study group, three of the cases were familial. In addition, a questionnaire was also completed by 99 French families with children adopted from abroad, and analyzed to determine the frequency of early pubertal development. The parameters included were age, weight and height at the time of adoption, date of onset of puberty, for the girls age at first menstruation, and current height and weight. RESULTS: It was determined that the 13 children had a very high growth recovery rate from the time that they arrived in France. For the period from time of adoption to the onset of puberty, mean height increased from -1.3 to +1.5 standard deviation score (SDS) and the mean weight-for-height factor increased from +1.2 to 1.9 SDS. The weight-height recovery rate following adoption seems to be the direct cause of early pubertal development in certain children, notably in those with a particularly rapid growth rate (between 6 years 6 months and 8 years 9 months for the girls, and between 8 and 10 years for the boys). In children adopted at an early age, a 'biological memory' seems to exist regarding the renutrition phenomenon which was instrumental in accelerating the onset of puberty some years after adoption. An analysis of the survey on the adoptive families showed that the frequency of precocious puberty was 44.9% in the group of 49 girls compared to only 8.6% in the group of 35 adopted boys, and that it mainly concerned children from Africa (57%), followed by those from South and Central America (57%), Asia (45%), and Eastern Europe (29%). CONCLUSION: A higher rate of precocious puberty was found in the adopted girls, with a significantly lower rate in the adopted boys. The etiological factors involved seemed to be mainly nutritional, and influenced by leptin and insulin-like growth factor 1 (IGF1) levels. The role of the latter and their interaction with other factors, particularly the ethnic aspect, remains to be determined via the study of a larger series of adopted children.
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Adopción , Pubertad Precoz/epidemiología , Edad de Inicio , Estatura , Peso Corporal , Niño , Femenino , Francia/epidemiología , Humanos , Masculino , Estado Nutricional , PrevalenciaRESUMEN
A specific behavioral phenotype is recognized in some genetic entities, particularly in microdeletion syndromes secondary to cytogenetically undetectable chromosomal deletions. Williams syndrome (WS) is a developmental disorder displaying dysmorphic signs, heart malformations and behavioral phenotype associated, in most cases, with a deletion of chromosome 7q11.23. We described physical and neuro-psychological assessment of nine cases of SW. Molecular studies were performed using Southern blot analyses or FISH, and identified a 7q11.23 deletion in all cases. Behavioral phenotype of WS is characterized by hyperactivity, engaging and jovial personality, hypersensitivity in hearing, and some elements of speech may be enhanced. Moderate mental retardation is frequently present. Previously reported studies have revealed specific cognitive deficits including deficits in language development and in long term memory, and poor visual-motor integration. Two genes, LIMK1 and STX1A, have been supposed to be implicated in determinism of WS behavioral phenotype. A specific behavioral phenotype is also demonstrated in others microdeletion syndromes, focusing attention on some chromosomal regions supposed to contain candidate genes involved in cognitive and behavioral traits.
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Conducta , Eliminación de Gen , Síndrome de Williams/genética , Adulto , Niño , Preescolar , Femenino , Humanos , Cariotipificación , Masculino , FenotipoAsunto(s)
Enfermedades Genéticas Congénitas/historia , Fiebre Mediterránea Familiar/historia , Enfermedades Genéticas Congénitas/epidemiología , Enfermedades Genéticas Congénitas/genética , Deficiencia de Glucosafosfato Deshidrogenasa/historia , Historia del Siglo XIX , Historia del Siglo XX , Historia Antigua , Humanos , Malaria/historia , Medicina en las Artes , Región Mediterránea/epidemiología , Pinturas/historia , Escultura/historia , Talasemia/historiaRESUMEN
BACKGROUND: The main features of the Smith-Magenis syndrome include broad flat midface, brachycephaly, broad nasal bridge, brachydactyly, hoarse deep voice, speech and developmental delay, and behavioral anomalies. This syndrome is due to interstitial deletion of chromosome 17p11.2. CASE REPORT: A 7-year-old girl was admitted for mental retardation. Clinical examination showed brachycephaly, broad flat midface, broad nasal bridge, malar hypoplasia, brachydactyly, decreased or absent deep tendon reflexes, and hoarse deep voice. She had a mild deafness, behavioral problems, and sleep disturbances. Chromosome analysis on lymphocytes identified a microdeletion of one chromosome subband 17p11.2. Molecular studies indicated loss of maternal allele. CONCLUSION: The Smith-Magenis syndrome is probably underdiagnosed because of its usually mild clinical features. High-resolution chromosome analysis is needed for diagnosis.
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Anomalías Múltiples/genética , Aberraciones Cromosómicas/genética , Deleción Cromosómica , Cromosomas Humanos Par 17 , Niño , Trastornos de la Conducta Infantil/complicaciones , Trastornos de la Conducta Infantil/genética , Trastornos de los Cromosomas , Cara/anomalías , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Trastornos del Lenguaje/complicaciones , Trastornos del Lenguaje/genética , SíndromeAsunto(s)
Hormona del Crecimiento/deficiencia , Síndrome de Turner/fisiopatología , Adolescente , Adulto , Densidad Ósea , Anticonceptivos Orales Combinados/uso terapéutico , Estudios Transversales , Densitometría , Estrógenos/uso terapéutico , Femenino , Hormona del Crecimiento/uso terapéutico , Humanos , Progestinas/uso terapéutico , Síndrome de Turner/tratamiento farmacológicoRESUMEN
We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.
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Deleción Cromosómica , Cromosomas Humanos Par 18 , ADN Satélite , Hibridación Fluorescente in Situ , Monosomía , Preescolar , Femenino , Humanos , Translocación GenéticaRESUMEN
X-linked dominant Charcot-Marie-Tooth (CMTX) neuropathy has been mapped to the Xq13 region. Subsequently, several mutations that could account for CMTX have been detected in the coding part of the connexin32 (Cx32) gene, which is located within this region. In order to develop more specific diagnostic tools, we have begun a systematic screening of families with dominant CMTX for mutations in the coding region of the Cx32 gene. This report describes a study of ten families and different mutations segregating with the disease were detected in five of them. In addition to the previously reported Arg22stop and Arg215Trp substitutions, three novel mutations are described, including two different missense mutations at codon Arg22 (Arg22Pro and Arg22Gly), and a nonsense mutation at codon Trp133. The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo.
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Enfermedad de Charcot-Marie-Tooth/genética , Conexinas/genética , Mutación , Cromosoma X/genética , Secuencia de Aminoácidos , Secuencia de Bases , Codón/genética , Codón sin Sentido/genética , Conexinas/química , ADN/genética , Femenino , Genes Dominantes , Ligamiento Genético , Humanos , Masculino , Linaje , Mutación Puntual , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Proteína beta1 de Unión ComunicanteRESUMEN
Recent progress in the clinical, genetic and therapeutic knowledges of Turner's syndrome are presented. The quality of life of Turner's syndrome can be much improved by early treatment with recombinant human growth hormone which significantly increases the patient's final height, and appropriate oestrogenic therapy at pubertal and adult ages. However, this requires an early diagnosis. Consequently, a karyotype must be performed in every girl with delayed growth, even in the absence of clinical features of the Turner's syndrome.
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Síndrome de Turner , Anomalías Múltiples/diagnóstico , Adolescente , Adulto , Femenino , Estudios de Seguimiento , Trastornos del Crecimiento/terapia , Humanos , Embarazo , Rehabilitación Vocacional , Síndrome de Turner/clasificación , Síndrome de Turner/genética , Síndrome de Turner/fisiopatología , Síndrome de Turner/terapiaRESUMEN
The cultural topic of malformations is universal by its questionning. Malformations and inherited diseases have been observed and represented since Antiquity. These sculptures and pictures inform about mentalities and behaviours in front of severe birth defects. Dysmorphic syndromes can be identifiable, like achondroplasia, whereas others dwarfisms are arguable. Hermaphroditism has a cosmic meaning. Failing that rational explanation, major abnormalities were considered as monsters of supernatural origin.
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Anomalías Congénitas/historia , Enfermedades Genéticas Congénitas/historia , Medicina en las Artes , Cultura , Historia Antigua , Historia Pre Moderna 1451-1600 , Historia Medieval , Historia Moderna 1601- , HumanosRESUMEN
UNLABELLED: The Floating-Harbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. We present an additional patient and review 16 cases from the literature. The possible phenotype in the patient's mother suggests a dominant mode of inheritance for the syndrome. CONCLUSION: The Floating Harbor syndrome is a growth deficiency syndrome characterized by proportionate short stature, characteristic face and delayed speech development. Inheritance is possibly autosomal dominant.