Use of a restricted protein diet in the treatment of behaviour disorderin a severely mentally retarded adult female phenylketonuric patient

ABSTRACT. A 54-year-old profoundly mentally retarded female patient with phenylketonuria and a severe behaviour problem was treated with a restricted protein and high energy diet. After several weeks of dietary intervention the patient's behaviour improved significantly.     

Radiofrequency Catheter Ablation of an Atriofascicular Pathway During Atrial Fibrillation:

Atriofascicular Ablation During Fibrillation. Introduction: A male patient with an atriofascicular pathway underwent catheter ablation of the atriofascicular pathway during atrial fibrillation.
Methods and Results: The patient had preexcited atrial fibrillation both clinically and repeatedly during electrophysioiogic study. A preexcited tachycardia with a 1:1 AV relationship and regular RR intervals was also induced. Catheter ablation of the atriofascicular pathway could only be performed during persistent atrial fibrillation, based on mapping of the pathway's insertion into the right bundle branch. Following successful ablation and cardioversion to sinus rhythm, a regular QRS tachycardia (atrioventricular [AV] nodal reentry) having (he same rate, atrial activation sequence, and His-atrial time as the regular preexcited tachycardia noted preablation was initiated. An AV nodal slow pathway modification eliminated this tachycardia. Neither atrial fibrillation nor AV nodal reentry has recurred on follow-up.
Conclusion: This is the first report of atriofascicular mapping and ablation performed exclusively during atrial fibrillation and illustrates the utility of mapping the pathway's ventricular insertion. Other unusual features ("bystander" pathway activation during AV nodal reentry, possible role of the pathway in genesis of atrial fibrillation) are discussed.     

Distribution of matrix metalloproteinases and their inhibitor, TIMP-1, in developing human osteophytic bone

Connective tissues synthesise and secrete a family of matrix metalloproteinases (MMPs) which are capable of degrading most components of the extracellular matrix. Animal studies suggest that the MMPs play a role in bone turnover. Using specific polyclonal antisera, immunohistochemistry was used to determine the patterns of synthesis and distribution of collagenase (MMP-1), stromelysin (MMP-3), gelatinase A (MMP-2) and gelatinase B (MMP-9) and of the tissue inhibitor of metalloproteinases-1 (TIMP-1) within developing human osteophytic bone. The different MMPs and TIMP showed distinct patterns of localisation. Collagenase expression was seen at sites of vascular invasion, in osteoblasts synthesising new matrix and in some osteoclasts at sites of resorption. Chondrocytes demonstrated variable levels of collagenase and stromelysin expression throughout the proliferative and hypertrophic regions, stromelysin showing both cell-associated and strong matrix staining. Intense gelatinase B expression was observed at sites of bone resorption in osteoclasts and mononuclear cells. Gelatinase A was only weakly expressed in the fibrocartilage adjacent to areas of endochondral ossification. There was widespread but variable expression of TIMP-1 throughout the fibrous tissue, cartilage and bone. These results indicate that MMPs play a role in the development of human bone from cartilage and fibrous tissue and are likely to have multiple functions.     

Galactosylation of N- and O-linked carbohydrate moieties of IgA1 and IgG in IgA nephropathy

The mechanism of IgA deposition in the kidneys in IgA nephropathy is unknown, Mesangial IgA is of the IgA I subclass, and since no consistent antigenic target for the IgA I has been described, we have investigated the glycosylation of the molecule, as a potential non-immunological abnormality which may contribute to its deposition. IgA 1 is rich in carbohydrate, carrying N-linked moieties in common with IgG, but also O-linked sugars, which are rare in serum proteins, and not expressed by IgG or lgA2, Lectin binding assays were designed to examine the expression of terminal galactose on the N-linked carbohydrate chains of purified serum IgG and IgAI, and the O-linked sugars of IgAI and C1 inhibitor (one of the very few other serum proteins with O-linked glycosylation). No evidence was found for abnormalities of N-linked glycosylation of either isotype in IgA nephropathy compared with matched controls. However, in IgA nephropathy, reduced terminal galactosylation of the hinge region O-linked moieties was demonstrated; this was not seen in C1 inhibitor, which showed normal or increased galactosylation of the O-linked sugars. This abnormality of IgA1 has considerable implications for the pathogenesis of IgA nephropathy, since the O-linked sugars lie in an important functional location within the IgA1 molecule, close to the ligand of Fc receptors. Changes in the carbohydrates in this site may therefore affect interactions with receptors and extracellular proteins, leading to anomalous handling of the IgA1 protein in this condition, including failure of normal clearance mechanisms, and mesangial deposition.     

Immunosuppressive and Monooxygenase Induction Activities of Highly Chlorinated Diphenyl Ether Congeners in C57BL/6 and DBA/2 Mice

The dose-response effects of 2,2',3,3',4,5,5',6,6'–,2,2',3,3',4,4',5,6,6'-and2,2',3,3',4,4',5,5',6-nonachlorodiphenyl ether (non-aCDE) anddecachlorodiphenyl ether (decaCDE) on the splenic plaque-formingcell (PFC) response to sheep red blood cells (SRBCs) and theinduction of hepatic microsomal ethoxyresorufin O-deethylase(EROD) activity was determined in aryl hydrocarbon (Ah)-responsiveC57BL/6 and less Ah-responsive DBA/2 mice. All the congenersexhibited immunotoxicity at doses between 2.5 and 10 µmol/kgin C57BL/6 mice whereas in DBA/2 mice doses25 µmol/kgwere required to cause inhibition of the PFC response to SRBCs.The results also showed that the nonaCDE isomers and decaCDEwere more active as inducers of hepatic EROD activity in C57BL/6than DBA/2 mice; however, there was not a correlation betweenthe induced EROD activity and the CYP1A1 and CYP1A2 mRNA levelsin the C57BL/6 mice. These data suggested that the immunotoxicityof these compounds was mediated through the Ah receptor. However,the results showed that the immunotoxicity of the nonaCDE isomersand decaCDE was unexpectedly high compared to that of lowerchlorinated diphenyl ethers and there were no apparent structure-activityrelationships among the higher chlorinated congeners. This suggeststhat some of the immunosuppressive effects observed for thenonaCDE isomers and decaCDE may be Ah receptor-independent.     

Computerized tomography of acute,tender peritonsillar swellings

A randomized trial involving 40 consecutive patients with an acute painful peritonsillar swelling was set up to determine if an enhanced computerized neck tomogram was cost-effective or improved patient management. Each patient was placed into one of two groups. The first group had enhanced computerized tomography (CT) which allowed precise identification of a quinsy and this was aspirated with an 18G needle aspiration at the site directed by the scan. The second group of patients had 3-point permucosal 18G needle aspirations. A proportion of patients from each group, but primarily from the second, required immediate or delayed admission to hospital after aspiration, for persistent or recurrent symptoms. Costing each groups treatment, including the scan and hospitalization on intravenous antibiotics, we conclude that CT scanning prevents the morbidity associated with unsuccessful attempts at drainage in the patient with cellulitis and ensures complete drainage of pus, thereby optimizing patient treatment and it is cost-effective.     

Megaloblastic Anaemia among Indians in Britain

A high incidence of megaloblastic anaemia, approximately threetimes that in white persons, has been found in Indian immigrantsin Britain. The clinical, haematological, and biochemical featuresof 25 patients are described. All but one of these were livingin the Southall area of Middlesex. In 15 cases the presentinghaemoglobin was less than 7 g/100 ml and three of these wereteenage girls. The majority (17 cases) were nutritional anaemias;the type of deficiency was variable and this group includedsome patients with vitamin B₁₈ deficiency, some with folic aciddeficiency, and some with deficiency of both vitamins. Amongthe remaining eight patients there were cases of perniciousanaemia, tropical sprue, gluten enteropathy, post-gastrectomyanaemia, and unexplained vitamin Bla malabsorption. Some ofthese conditions have previously been considered uncommon inAsiatic Indians.