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1.
Pediatr Surg Int ; 24(7): 815-7, 2008 Jul.
Article in English | MEDLINE | ID: mdl-18427812

ABSTRACT

An adverse association between oesophageal atresia (OA) and cleft lip-palate (3% incidence) has been reported. The present study analyses outcomes of this rare association at a UK paediatric surgical centre. Hospital charts of newborns diagnosed with OA were reviewed. Demographics, associated anomalies and prognostic classification (after Spitz 1994) were recorded. Mortality rates and causes of death were examined in OA babies with cleft lip-palate. Of 152 patients treated for OA, five babies (3%) had cleft lip-palate. All of these newborns had common variant OA-TEF and were Spitz group II category. Deaths occurred in 3 of 5 patients (60%) in the OA-cleft group compared to only 8 of 147 patients (5%) without clefts (p < 0.005; Fisher's exact test). OA-cleft non-survivors succumbed to tetralogy of Fallot (n = 2) and trisomy 18 (n = 1; treatment withdrawn). Both survivors with cleft lip-palate had features of the VACTERL sequence: one baby also had Goldenhaar syndrome, the other aortic coarctation. These children now attend mainstream school. Although high-quality survival is possible in OA with cleft lip-palate, this rare phenotype is associated with a substantially decreased survival. Rather than causing death directly, the combination of OA and cleft lip-palate appears to be a marker for further lethal anomalies.


Subject(s)
Abnormalities, Multiple/mortality , Cleft Lip/mortality , Cleft Palate/mortality , Esophageal Atresia/mortality , Female , Humans , Infant, Newborn , Male , Survival Rate , United Kingdom/epidemiology
2.
Mol Cell Neurosci ; 32(4): 324-34, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16843004

ABSTRACT

D-amino acid oxidase (DAO) degrades D-serine, a co-agonist at the NMDA receptor (NMDAR). Hypofunction of the NMDAR has been suggested to contribute to the pathophysiology of schizophrenia. Intriguingly, DAO has been recently identified as a risk factor for schizophrenia through genetic association studies. A naturally occurring mouse strain (ddY/DAO-) has been identified which lacks DAO activity. We have characterized this strain both behaviorally and biochemically to evaluate DAO as a target for schizophrenia. We have confirmed that this strain lacks DAO activity and shown for the first time it has increased occupancy of the NMDAR glycine site due to elevated extracellular D-serine levels and has enhanced NMDAR function in vivo. Furthermore, the ddY/DAO- strain displays behaviors which suggest that it will be a useful tool for evaluation of the clinical benefit of DAO inhibition in schizophrenia.


Subject(s)
Brain Chemistry/genetics , D-Amino-Acid Oxidase/deficiency , Mice, Knockout/physiology , Schizophrenia/physiopathology , Acoustic Stimulation/methods , Animals , Brain Chemistry/drug effects , Cyclic GMP/metabolism , Disease Models, Animal , Dose-Response Relationship, Radiation , Excitatory Amino Acid Antagonists/pharmacology , Extremities/physiology , Female , Male , Mice , Mice, Inbred Strains , Motor Activity/drug effects , Motor Activity/genetics , Neural Inhibition/genetics , Neurologic Examination/methods , Phencyclidine/administration & dosage , Psychomotor Performance/drug effects , Psychomotor Performance/physiology , Quinolones/pharmacology , Reaction Time/genetics , Reflex, Startle/genetics , Schizophrenia/metabolism , Sex Factors , Swimming/physiology
3.
Br J Dermatol ; 149(5): 1064-6, 2003 Nov.
Article in English | MEDLINE | ID: mdl-14632817

ABSTRACT

Pseudoainhum is a term used to describe the presence of constricting bands of the extremities due to a variety of underlying causes. Progression of the lesions can cause irreversible damage and autoamputation of the affected digit. This report documents a rare association of pseudoainhum and psoriasis and emphasizes the importance of recognizing this condition.


Subject(s)
Ainhum/etiology , Fingers , Hand Dermatoses/complications , Psoriasis/complications , Adult , Ainhum/pathology , Chronic Disease , Constriction, Pathologic , Fingers/pathology , Humans , Male
5.
Neurosci Lett ; 220(2): 101-4, 1996 Dec 13.
Article in English | MEDLINE | ID: mdl-8981483

ABSTRACT

We describe the use of SR141716A, a central cannabinoid antagonist, in radioligand binding and adenylyl cyclase (AC) inhibition studies in rat cerebella membranes. The binding of [3H]SR141716A was dose-dependent and saturable, with Kd and Bmax of 0.61 +/- 0.12 nM and 1752 +/- 294 fmol/mg protein, respectively. Kinetic analysis of [3H]SR141716A binding afforded a Kd of 0.72 nM. In addition [3H]SR141716A was displaced dose-dependently by unlabelled SR141716A yielding a pKi of 8.37 +/- 0.07. Cannabinoid receptor agonists displaced [3H]SR141716A in a dose-dependent manner, (pKi) nabilone (8.29 +/- 0.08), WIN 55,212-2 (7.75 +/- 0.15), delta 9-tetrahydrocannabinol (7.29 +/- 0.21), delta 8-tetrahydrocannabinol (6.53 +/- 0.09) and anandamide (5.92 +/- 0.04). The affinity of anandamide was increased (6.26 +/- 0.13) by co-incubation with a serine protease inhibitor. A range of 13 commonly used non-cannabinoid ligands included at 100 microM were unable to displace [3H]SR141716A. WIN 55,212-2 inhibited basal cAMP formation dose-dependently with a pIC50 of 7.61 +/- 0.12 (24.3 nM) in an SR141716A (1 microM) reversible manner.


Subject(s)
Cannabinoids/antagonists & inhibitors , Cerebellum/chemistry , Piperidines/chemistry , Pyrazoles/chemistry , Receptors, Drug/antagonists & inhibitors , Animals , Benzoxazines , Cell Membrane , Cerebellum/metabolism , Dronabinol/analogs & derivatives , Dronabinol/metabolism , Female , Ligands , Morpholines/metabolism , Naphthalenes/metabolism , Piperidines/metabolism , Pyrazoles/metabolism , Rats , Rats, Wistar , Receptors, Drug/agonists , Rimonabant
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