Background: Hirschsprung disease is a complex genetic disorder of the enteric nervous system (ENS), often called congenital aganglionic megacolon and characterized by the absence of enteric neurons along a variable length of the intestine. The definitive diagnosis of Hirschsprung disease relies on histologic and/or histochemical staining of sections fr...

INTRODUCTION The shift in epidemic trends in recent years in Romania shows new problems in regard of HIV vertical transmission, firstly in intravenous drug user's mothers co-infected with hepatitis viruses and with social problems, and secondly the children of young mothers with an old HIV infection and long antiretroviral therapy history. MATERIALS AND METHODS We studied all HIV perinatal ex...

T he RET proto-oncogene, located at 10q11.2, encodes receptor tyrosine kinase expressed during neural crest development and is involved in different human neurocristopathies such as the multiple endocrine neoplasia type 2 (MEN 2) syndromes and Hirschsprung’s disease (HSCR). HSCR (OMIM 142623), or aganglionic megacolon, is a common developmental disorder characterised by the absence of enteric n...

In this issue, Mégarbané et al. [2003] describe two brothers with ‘‘IFAP syndrome’’ (ichthyosis follicularis, alopecia and photophobia). After having studied this interesting paper, I am asking myself whether IFAP syndromecanstillbetakenasonesingleclinicogeneticentity. McLeod [1909] described three cases of ‘‘ichthyosis follicularis’’ associated with baldness. His report fell into oblivion unti...

BACKGROUND Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down's syndrome, Waardenbu...

T HE enteric nervous system is a collection of neu-rons in the gastrointestinal tract 1 that constitutes the " brain of the gut " and can function independently of the central nervous system. 2 This system controls the motility, 3,4 exocrine and endocrine secretions, 5 and microcirculation 6 of the gastrointestinal tract; it is also involved in regulating immune and inflammatory processes. 7 In...

ates a new problem. If the mitogenic signal is also the primary chemoattractive signal toward which these cells migrate, then why should ENS precursors migrate beyond the cecum? One explanation is that as these cells proliferate in the cecum, they compete for the available GDNF and then eventually migrate toward areas of the distal bowel where there are fewer Ret-expressing cells and more free ...

amines. In the early 1960's, Hillarp, Falck, and their co-workers developed the basic technique for visualizing amine-containing neurons. Treating freeze-dried tissue sections with dry formaldehyde vapor brings about condensation of the amino group of the biogenic amines with the formaldehyde. A new conjugated ring is formed, and the product fluoresces with different excitation and emission max...

338 DR. BARNETT: I think few of us would consider that we know enough new about pyloric stenosis to justify presenting an infant with it to a group of this type. However, the patient to be presented had what appears to be a cornplication of p loric stenosis, which we had not encountered previously and one which is of both practical and theoretic interest. The patient will be described and the d...

MANY common disorders, including schizophrenia ers are affected, however, and the probable mode of disease inheritance is dominant with reduced peneand bipolar affective disorder, are highly heritatrance. That is to say inheritance of the translocation ble, yet do not exhibit simple inheritance patterns. Indiconfers a genetic predisposition to develop psychiatric vidual risk is usually attribut...