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1.
Renal dysplasia and asplenia in two sibs 总被引:2,自引:0,他引:2
A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, nodular and cystic but the liver appeared macroscopically normal. In the second child, histological examination confirmed pancreatic fibrosis with cystic dilation of ducts, but showed portal fibrosis with bile duct proliferation in the liver.
This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner. 相似文献
This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner. 相似文献
2.
Over 200 schizophrenic patients belonging to three major and interrelated pedigree complexes have been investigated over the past 30 years in a North Swedish geographically isolated population, presently numbering about 6,000. An intensive investigation of a number of biochemical correlates and genetic markers in a few selected families belonging to one of the major pedigrees has indicated new strategies for the current research program.
Schizophrenia, as defined operationally, is significantly associated with decreased activities of two enzymes (1) blood platelet monoamine oxidase, (2) plasma dopamine-β-hydroxylase, and (3) with the genetic marker Gc2 (group specific antigen). Both enzymes are subject to genetic variation. A positive score for linkage between schizophrenia and low plasma DBH activity has been calculated, but, so far, available data are insufficient for discrimination between linkage and partial contribution of genetically controlled low plasma DBH to the pathogenesis of the disease. Alternatively, both mechanisms could be involved.
As a model for continued research, schizophrenia is explained as based on a double dominant-recessive genotype (Aabb), representing a vulnerability which in about 50 % of cases develops into clinical schizophrenia. It is suggested that the dominant mutation (A) operates on or affects MAO activity, and that the recessive genotype (bb) is instrumental in low variates of DBH activity and very likely such variates within the normal range of physiological variation. Moreover, it is suggested that the combined effects of MAO- and DBH-reduced efficiency on the metabolism of e.g. dopamine could be an essential pathogenic mechanism for the schizophrenic illness which is segregating in this population. 相似文献
Schizophrenia, as defined operationally, is significantly associated with decreased activities of two enzymes (1) blood platelet monoamine oxidase, (2) plasma dopamine-β-hydroxylase, and (3) with the genetic marker Gc
As a model for continued research, schizophrenia is explained as based on a double dominant-recessive genotype (Aabb), representing a vulnerability which in about 50 % of cases develops into clinical schizophrenia. It is suggested that the dominant mutation (A) operates on or affects MAO activity, and that the recessive genotype (bb) is instrumental in low variates of DBH activity and very likely such variates within the normal range of physiological variation. Moreover, it is suggested that the combined effects of MAO- and DBH-reduced efficiency on the metabolism of e.g. dopamine could be an essential pathogenic mechanism for the schizophrenic illness which is segregating in this population. 相似文献
3.
Donald O. Rudin 《Medical hypotheses》1982,8(1):17-47
About 1900, modern food selection and processing caused widespread of the B vitamin deficiency diseases of beriberi and pellagra which, for genetic reasons, often expressed as different diseases ranging from bowel and heart disease to dermatoses and psychoses. But the B vitamins merely help convert essential fatty acids (EFA) into the prostaglandin (PG) tissue regulators and it now turns out that, through hydrogenation, milling and selection of w3-poor southern foods, we have also been systematically depleting, by as much as 90%, a newly discovered trace Nordic EFA (w3) of special importance to primates and sole precursor of the PG3(4) series, even as a concurrent fiber deficiency increases body demand for EFA. Since substrate EFA is processed by many B vitamin catalysts, an EFA deficiency will mimic a ypovitaminosis B, i.e., a mixture of beriberi and pellagra resembling vitamin beriberi and pellagra but exhibiting as even more diverse disease. This would consitute a second stage of the Modern Malnutrition and explain why some workers now hold the dominant diseases of modermized societies to be new, nutritionally based, pellagraform yet lipid-related and to range, once again, from heart disease to psychosis. It is an assumption that our dominant diseases are unrelated to each other or are merely revealed by our diagnostic acumen and therapeutic success; and that hydrogenating millions of tons of food oils annually, to destroy the rancidity producing w3-EFA, is safe for . Extensive beriberiform disease is reported here in 32 typical cases taken from medical practice which responds strikingly to linseed oil supplements (60% w3-EFA) in confirmation of identical results in Capuchins. 相似文献
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Marita Troye-Blomberg Charles Arama Jaclyn Quin Ioana Bujila Ann-Kristin Östlund Farrants 《Scandinavian journal of immunology》2020,92(4):e12932
There are an estimated over 200 million yearly cases of malaria worldwide. Despite concerted international effort to combat the disease, it still causes approximately half a million deaths every year, the majority of which are young children with Plasmodium falciparum infection in sub-Saharan Africa. Successes are largely attributed to malaria prevention strategies, such as insecticide-treated mosquito nets and indoor spraying, as well as improved access to existing treatments. One important hurdle to new approaches for the treatment and prevention of malaria is our limited understanding of the biology of Plasmodium infection and its complex interaction with the immune system of its human host. Therefore, the elimination of malaria in Africa not only relies on existing tools to reduce malaria burden, but also requires fundamental research to develop innovative approaches. Here, we summarize our discoveries from investigations of ethnic groups of West Africa who have different susceptibility to malaria. 相似文献
6.
Newton H 《Medical history》2011,55(2):153-182
Sick children were ubiquitous in early modern England, and yet they have received very little attention from historians. Taking the elusive perspective of the child, this article explores the physical, emotional, and spiritual experience of illness in England between approximately 1580 and 1720. What was it like being ill and suffering pain? How did the young respond emotionally to the anticipation of death? It is argued that children’s experiences were characterised by profound ambivalence: illness could be terrifying and distressing, but also a source of emotional and spiritual fulfilment and joy. This interpretation challenges the common assumption amongst medical historians that the experiences of early modern patients were utterly miserable. It also sheds light on children’s emotional feelings for their parents, a subject often overlooked in the historiography of childhood. The primary sources used in this article include diaries, autobiographies, letters, the biographies of pious children, printed possession cases, doctors’ casebooks, and theological treatises concerning the afterlife. 相似文献
7.
C. R. Lipton J. X. Dautlick G. D. Grothaus P. L. Hunst K. M. Magin C. A. Mihaliak F. M. Rubio J. W. Stave 《Food and Agricultural Immunology》2000,12(2):153-164
Recent advancements in agricultural biotechnology have created a need for analytical techniques to determine introduced proteins in crops enhanced through modern biotechnology techniques. These proteins are expressed in plant tissues and may be present in food ingredients. Immunoassays are ideally suited for protein detection and may be used as both quantitative and threshold methods. Microplate ELISA and lateral flow devices are two of the most commonly used immunoassay formats for agricultural biotechnology applications. This paper provides general background information and a discussion of criteria for the validation and application of immunochemical methods to the analysis of proteins introduced into plants and food ingredients using biotechnology methods. It is the result of a collaborative effort of members of the Analytical Environmental Immunochemical Consortium. This collaborative effort represents the combined expertise of several organizations to reach consensus on establishing guidelines for the validation and use of immunoassays. Further, the paper offers developers and users a consistent approach to adopting the technology as well as aid in producing accurate and meaningful results. 相似文献
8.
Antonio Arnaiz-Villena Jose Palacio-Grüber Ignacio Juarez Ennio Hernández Ester Muñiz Brayan Bayona Cristina Campos Jorge Nieto Manuel Martin-Villa Carlos Silvera 《Human immunology》2018,79(4):189-190
HLA-A,-B,-C,-DRB1 and -DQB1 alleles have been studied in Chimila Amerindians from Sabana de San Angel (North Colombian Coast) by using high resolution molecular typing. A frequent extended haplotype was found:HLA-A*24:02-B*51:10-C*15:02-BRB1*04:07-DQB1*03:02 (28.7%) which has also been described in Amerinndian Mayos Mexican population (Mexico, California Gulf, Pacific Ocean). Other haplotypes had already been found in Amerindians from Mexico (Pacific and Atlantic Coast), Peru (highlands and Amazon Basin), Bolivia and North USA. A geographic pattern according to HLA allele or haplotype frequencies is lacking in Amerindians, as already known. Also, five new extended haplotypes were found in Chimila Amerindians. Their HLA-A*24:02 high frequencies characteristic is shared with aboriginal populations of Taiwan; also, HLA-C*01:02 high frequencies are found in New Zealand Maoris, New Caledonians and Kimberly Aborigines from Australia. Finally, this study may show a model of evolutionary factors acting and rising one HLA allele frequency (-A*24:02), but not in others that belong to the same or different HLA loci. 相似文献
9.
Ultracryotomy: development and application (with examples from the yeast cytology) (author's transl)
Konrad Joachim Böhm 《Acta histochemica》1980,66(1):59-84
The preparation steps usually necessary for obtaining ultrathin frozen sections of biological material (chemical prefixation, enclosing, cryoprotective treatment, freezing, sectioning, and post-staining the sections for transmission electron microscopy) are submitted to a critical analysis. The application of cryo-ultramicrotomy, in particularly for cytochemical purposes, is reviewed. Fundamental considerations of chemical prefixation and poststaining are supported by examples from yeast cytology. Furthermore, the efficiency of the cryo-ultramicrotomy (electron optical resolution of ultrastructural details) is demonstrated on yeast cells and protoplasts. 相似文献
10.
M G Baggot 《Medical hypotheses》1979,5(5):591-597
Starting with the integument, we see many organs are contractile sacs or multiples thereof, which tubes or bags constitute the major part of the entire body. Recognition of this basic unit and its characteristics sheds new light, individually and collectively, on many disorders previously considered unrelated. Muscular tears and perforations develop in the walls of these chambers, being no way peculiar to those organs, wherein, hydrochloric acid occurs. So, it is not necessary to explain the absence of excessive acid from patients who exhibit holes in the gastric, uterine, aortic, duodenal, rectal, pulmonary, retina, and other walls. Muscle, not acid is the great common factor relating idiopathic disorders in the gastrointestinal tract to each other and to similar diseases in other systems. When the units are linked together, the lesions tend to appear as arthropathies, i.e. at the joints. Rephrasing common-place observations, frees us from conventional, conceptual cul-de-sacs. An observation is only as good as its interpretation, so all possibilities must be considered, otherwise, we will remain blinded by our misconceptions. 相似文献
11.
G. Heinemann H. Schievelbein D. Eberhagen V. Rahlfs 《Journal of molecular medicine (Berlin, Germany)》1981,59(20):1165-1173
Zusammenfassung Der Einfluß von verschiedenen Nahrungsmitteln auf Methoden zur Bestimmung von Adrenalin (AD), Noradrenalin (NA), Vanillinmandelsäure (VMS), Metanephrinen (MN), Homovanillinsäure (HVS) und 5-Hydroxyindolessigsäure (5-HIE) im 24 h-Harn zur Diagnose des Phäochromozytoms bzw. Karzinoid-Syndroms wurde untersucht. Die in die Untersuchung einbezogenen Nahrungsmittel waren: Tee, Kaffee, Mandeln, Ananas, Käse, Walnüsse, Vanillepudding, Bananen, Tomaten und Milchschokolade. Außerdem wurde der Einfluß des Zigarettenrauchens auf die Bestimmung von AD, NA, VMS und MN untersucht.Walnüsse führten zu einer starken Erhöhung der 5-HIE-Ausscheidung. Bananen erhöhten die Ausscheidung von AD, NA, VMS, MN und 5-HIE. Kaffee und Ananas bewirkten eine geringe Zunahme der MN-Werte. Rauchen von 20–30 Zigaretten/Tag beeinflußte keine der vier Variablen.Wenn die beschriebenen Methoden benutzt werden, sollte lediglich auf den Verzehr von Bananen und Walnüssen vor und während der Harnsammelperioden verzichtet werden, da die oberen Normgrenzen im Harn überschritten werden könnten. Ein Verzicht auf Kaffee und Ananas in normalen Mengen ist nicht erforderlich. Es besteht kein Anlaß, weiterhin die bisherigen umfangreichen Restriktionen der übrigen Nahrungsmittel beizubehalten. 相似文献
12.
There is a sharp difference in how one views TCR structure–function–behaviour dependent on whether its recognition of major histocompatibility complex‐encoded restriction elements (R) is germline selected or somatically generated. The generally accepted or Standard model is built on the assumption that recognition of R is by the V regions of the αβ TCR, which is not driven by allele specificity, whereas the competing model posits that recognition of R is allele‐specific. The establishing of allele‐specific recognition of R by the TCR would rule out the Standard model and clear the road to a consideration of a competing construct, the Tritope model. Here, the case for allele‐specific recognition (germline selected) is detailed making it obvious that the Standard model is untenable. 相似文献
13.
P. A. Galenko-Yaroshevskii E. R. Melkumova V. V. Bartashevich A. V. Uvarov A. Yu. Turovaya A. I. Khankoeva D. S. Galygo 《Bulletin of experimental biology and medicine》1996,122(6):1205-1207
Dimebon, an antihistamine agent, exerts a moderate antianginal effect, improving the function of ischemic focus in the myocardium
and decreasing the necrotic zone in experimental myocardial infarction. Dimebon is less active than obsidan, finoptin (except
for the size of the necrotic zone), and cordaron.
Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 122, No. 12, pp. 642–644, December, 1996 相似文献
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Effects of sex steroid hormones on lipid peroxidation and glutathione antioxidant system in rat skin
P. V. Sergeev T. V. Ukhina N. L. Shimanovskii 《Bulletin of experimental biology and medicine》1999,128(6):1235-1238
Effects of estradiol and testosterone on the intensity of lipid peroxidation and contents of glutathione redox system components
in the dermis and epidermis of rat skin were studied. Only estradiol induced considerable dose-dependent and tissue-specific
biphasic antioxidant effects on the skin.
Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 128, No. 12, pp. 663–666, December, 1999 相似文献
16.
H. Hinghofer-Szalkay 《Journal of molecular medicine (Berlin, Germany)》1980,58(20):1147-1154
Zusammenfassung Die Lagerung des Körpers hat wesentlichen Einfluß auf die Balance der transkapillären Bewegung eiweißarmer Flüssigkeit, das heißt auf das Gesamt-Starling-Gleichgewicht im Kreislauf. Aufrichten aus der horizontalen Lage hat Hämokonzentration, Hinlegen Hämodilution zur Folge. Folglich beeinflußt Lageänderung das Blut- und Plasmavolumen und darüber hinaus Werte wie Eiweißkonzentration, Hämatokrit oder Hämoglobinkonzentration im Blut.In der vorliegenden Arbeit wird die Möglichkeit vorgestellt, mittels der Biegeschwingermethode durch Dichtemessungen an Kapillarblut und -plasma diese orthostatischen Einflüsse auf hämatologische Zustandsvariable zu quantifizieren und ihren zeitlichen Verlauf mit hoher Auflösung zu erfassen.Im Durchschnitt ergab sich infolge Aufrichten des Körpers (70°) aus der Horizontalen eine Verringerung des Plasmavolumens um 6,6% nach 10 und um 11,1% nach 30 min; Hinlegen bewirkte nach 10 min eine Erhöhung des Plasmavolumens um 6,5% und nach 30 min um 10,5%. Entsprechende Blutvolumenveränderungen zwischen 5 und 10% gingen auch aus den Blutdichteänderungen bei orthostatischen Reizen hervor.Eine wichtige praktische Konsequenz ist die Forderung nach Beachtung der Körperlage vor und während Blutabnahmen, vor allem bei Verlaufsmessungen hämatologischer Größen bei ein und demselben Patienten oder bei statistischen Vergleichen verschiedener Kollektive.Diese Arbeit wurde vom Fonds zur Förderung der Wissenschaftlichen Forschung unterstützt 相似文献
17.
《Journal of biomaterials science. Polymer edition》2013,24(7):767-786
A series of surface-functionalized poly(ether ether ketone) (PEEK) films has been prepared by selective wet-chemistry; they are hydroxylated polymer (PEEK-OH) obtained by reduction, aminated polymer (PEEK-[]-NH2) prepared by coupling a diisocyanate reagent to PEEKOH (PEEK-[]-NCO) followed by hydrolysis, and carboxylated and aminocarboxylated polymers (PEEK-[]-GABA and PEEK-Lysine) resulting from the coupling of aminoacids to PEEK-[]-NCO. The aminated and carboxylated substrata promoted the adhesion and growth of CaCo2 cells in the presence of serum. Fibronectin (FN), an extra-cellular matrix protein, has been covalently fixed and/or adsorbed on various PEEK substrata, in the presence or not of a polymeric surfactant (Pluronic F68). The performances of the FN-grafted substrata (PEEK-[]-FN(1) and PEEK-[]-FN(2)) were significantly higher than those of reference substrata simply coated with FN (PEEK-OH(+FN)(1) and (2), PEEK-[]-NH2(+FN)(1) and (2)), considering the adhesion and spreading of CaCo2 cells in the absence of serum. Moreover, the stability of the adherent cells on the FN-adsorbed substrata dramatically depended on the experimental conditions applied during the PEEK coating with FN. 相似文献
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Carol Leader 《British Journal of Psychotherapy》2009,25(4):506-519
Homer's epic tale of the 20-year return of Odysseus from the Trojan War is investigated with particular reference to Jung's theory of individuation. Odysseus' meetings with 'the anima' in the form of goddesses, sirens and female monsters and his visit to Hades demonstrate the confrontation and humanization of aspects of the archetypal level of the psyche, central to Jung's theories of psychic growth and development. Jung's important ideas of the psychoid level and the transcendent function are explored and linked both to his investigations into medieval alchemy and with findings from contemporary neuroscience. The importance of Jung's constructive method of the interpretation of dreams and myths is shown to be central. 相似文献
20.
R. J. Powell G. L. Du Toit N. Siddique S. C. Leech T. A. Dixon A. T. Clark R. Mirakian S. M. Walker P. A. J. Huber S. M. Nasser 《Clinical and experimental allergy》2007,37(5):631-650
This guidance for the management of patients with chronic urticaria and angio-oedema has been prepared by the Standards of Care Committee (SOCC) of the British Society for Allergy and Clinical Immunology (BSACI). The guideline is based on evidence as well as on expert opinion and is aimed at both adult physicians and paediatricians practising in allergy. The recommendations are evidence graded. During the development of these guidelines, all BSACI members were included in the consultation process using a web-based system. Their comments and suggestions were carefully considered by the SOCC. Where evidence was lacking a consensus was reached by the experts on the committee. Included in this guideline are clinical classification, aetiology, diagnosis, investigations, treatment guidance with special sections on children with urticaria, and the use of antihistamines in women who are pregnant or breastfeeding. Finally, we have made recommendations for potential areas of future research. 相似文献