Congenital Abnormalities

Publication Title: 
Molecular Psychiatry

Autism is a complex neurodevelopmental disorder in which the interactions of genetic, epigenetic and environmental influences play a causal role. Despite the compelling evidence for a strong heritability, the etiology and molecular mechanisms underlying autism remain unclear. High phenotypic variability and genetic heterogeneity confounds the identification of susceptibility genes. The lack of robust indicators to tackle this complexity in autism has led researchers to seek for novel diagnostic tools to create homogenous subgroups.

Author(s): 
Ozgen, H. M.
Hop, J. W.
Hox, J. J.
Beemer, F. A.
van Engeland, H.
Publication Title: 
Medicinska Etika a Bioetika: Casopis Ustavu Medicinskej Etiky a Bioetiky = Medical Ethics & Bioethics: Journal of the Institute of Medical Ethics & Bioethics

Decisions on whether to resuscitate severely premature infants are especially difficult in "borderline viability" cases--those where the probability of survival is slim, and where, if survival is possible, multiple co-morbidities and severe disabilities are likely. The 2000 International Guidelines on Cardiopulmonary Resuscitation are comprehensive, yet leave open some of the more difficult ethical questions that must be addressed by decision-makers.

Author(s): 
O'Brien, Dan
Publication Title: 
Birth (Berkeley, Calif.)

BACKGROUND: Falling consent rates for postmortems, regardless of age of death, have been widely reported in recent years. The aim of this study was to explore parental attitudes to, and decision-making about, a perinatal postmortem after termination for fetal abnormality, late miscarriage, or stillbirth. METHODS: A prospective self-completion questionnaire was given to 35 women and their partners. The participants had experienced second or third trimester pregnancy loss in a single fetal medicine and delivery unit in the United Kingdom and were making decisions about having a postmortem.

Author(s): 
Breeze, Andrew C. G.
Statham, Helen
Hackett, Gerald A.
Jessop, Flora A.
Lees, Christoph C.
Publication Title: 
International Journal of Gynaecology and Obstetrics: The Official Organ of the International Federation of Gynaecology and Obstetrics

The clinically detailed report of a successful uterus transplantation and live birth in Sweden, in which a family friend donated her uterus, provides a basis for expanded practice. Family members and friends can serve as living donors without offending legal or ethical prohibitions of paid organ donation, even though family members and friends often engage in reciprocal gift exchanges. Donations from living unrelated sources are more problematic, and there is a need to monitor donors' genuine altruism and motivation. Donation by deceased women-i.e.

Author(s): 
Dickens, Bernard M.
Publication Title: 
Psychiatrie, Neurologie, Und Medizinische Psychologie
Author(s): 
Popek, K.
Vagner, B.
Dostal, J.
Publication Title: 
The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine
Author(s): 
Langer, L. O.
Publication Title: 
Ugeskrift for Laeger

On the basis of the literature available, no certain proof can be found that human chorion gonadotropin, progesterone, oestradiol, ACTH, thyreoid patrameters or vitamin B6 are of causal significance for hyperemesis gravidarum (HG). Hyperemesis gravidarum has undoubtedly a considerable psychological basis. The frequency is greatest in industrialized societies and change of environment, in itself, is frequently adequate treatment.

Author(s): 
Schouenborg, L. O.
Honnens de Lichtenberg, M.
Djursing, H.
Sørensen, J.
Publication Title: 
Journal of the National Medical Association

Birth defects increase the risk of speech, language, and hearing disorders in childhood. The prevalence of particular congenital anomalies varies from one racial and ethnic group to another. Some conditions such as the hemoglobinopathies, polydactyly, and external ear malformations are more common among black people. Other birth defects are rarer among black children, notably cleft lip and palate, neural tube defects, and phenylketonuria.

Author(s): 
Meyerson, M. D.
Weddington, G. T.
Publication Title: 
Journal of Manipulative and Physiological Therapeutics

OBJECTIVE: Little attention has been given to the craniovertebral articulations. Specifically, gross observations of variations of the superior articular facets on the atlas have not been described with respect to static and motion palpation findings. This study describes the anatomical variations of these facets and the clinical implications associated with asymmetrical structure.

Author(s): 
Gottlieb, M. S.
Publication Title: 
Journal of Manipulative and Physiological Therapeutics

OBJECTIVE: To present an interesting and unusual case of double patella syndrome in a patient with multiple epiphyseal dysplasia. The pertinent clinical and radiographic findings and a brief review of the literature are discussed. CLINICAL FEATURES: An 11-yr-old male patient suffered from occasional right hip pain and limited range of motion, as well as a nontender soft tissue mass in the right knee. Radiographic examination of the hips and knees demonstrated double-layered patellae and bilateral coxa magna deformity.

Author(s): 
Yochum, T. R.
Sprowl, C. G.
Barry, M. S.

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