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Biomedical subjects

J van den Ende

Publications and source records attributed to J van den Ende.

At least 19 recordsLinked to original sources

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Subtelomeric rearrangements are believed to be responsible for 5-7% of idiopathic mental retardation cases. Due to the relative complexity and high cost of the screening methods used till now, only preselected patient populations including mostly the more severely affected cases have been screened. Recently, multiplex ligation-dependent probe amplification (MLPA) has been adapted for use in subtelomeric screening, and we have incorporated this technique into routine diagnostics of our laboratory. Since the evaluation of MLPA as a screening method, we tested 275 unselected patients with idiopathic mental retardation and detected 12 possible subtelomeric aberrations: a der(11)t(11;20)(qter;qter), a 19pter duplication, a der(18)t(18;10)(qter; pter), a 15qter deletion, a 8pter deletion, a 6qter deletion, a der(X)t(X;1)(pter;qter), a der(X)t(X;3)(pter;pter), a 5qter duplication, a 3pter deletion, and two 3qter duplications. The patients can be subdivided into two groups: the first containing de novo rearrangements that are likely related to the clinical presentation of the patient and the second including aberrations also present in one of the parents that may or may not be causative of the mental retardation. In our patient cohort, five (1.8%) subtelomeric rearrangements were de novo, three (1.1%) rearrangements were familial and suggestively disease causing, and four (1.5%) were possible polymorphisms. This high frequency of subtelomeric abnormalities detected in an unselected population warrants further investigation about the feasibility of routine screening for subtelomeric aberrations in mentally retarded patients.

Base Sequence↗

Diarrheagenic Escherichia coli and acute and persistent diarrhea in returned travelers.

To determine the role of diarrheagenic Escherichia coli in acute and persistent diarrhea in returned travelers, a case control study was performed. Enterotoxigenic E. coli (ETEC) was detected in stool samples from 18 (10.7%) of 169 patients and 4 (3.7%) of 108 controls. Enteroaggregative E. coli (EAggEC) was detected in 16 (9.5%) patients and 7 (6.5%) controls. Diffuse adherent E. coli strains were commonly present in both patients (13%) and controls (13.9). Campylobacter and Shigella species were the other bacterial enteropathogens most commonly isolated (10% of patients, 2% of controls). Multivariate analysis showed that the presence of ETEC was associated with acute diarrhea (odds ratio [OR], 6.7; 95% confidence interval [CI], 1.5 to 29.1; P = 0.005), but not with persistent diarrhea (OR, 1.6; 95% CI, 0.4 to 7.4). EAggEC was significantly more often present in patients with acute diarrhea than in controls (P = 0.009), but no significant association remained after multivariate analysis. ETEC and EAggEC are frequently detected in returned travelers with diarrhea. The presence of ETEC strains is associated with acute but not with persistent diarrhea.

Adolescent↗

Histoplasma capsulatum infection in three AIDS patients living in Africa.

Three AIDS patients are reported, 2 European and 1 African. All 3 developed Histoplasma capsulatum infection while living in Africa. Two developed a pulmonary infiltrate, and 2 had skin lesions. One patient was successfully treated with itraconazole, 400 mg daily; in a second patient, itraconazole was partially successful; the third patient was lost to follow-up before adequate treatment could be started. Histoplasma infection is probably an often undiagnosed complication in African AIDS patients.

AIDS-Related Opportunistic Infections↗

Evaluation of the "one-minute" test for detecting Helicobacter (Campylobacter) pylori infection.

The "one-minute" urease test to detect Helicobacter (Campylobacter) pylori infection was evaluated using histology and culture as the "gold standard". The test was performed in a blinded manner and compared with the conventional Christensen's urease test. Helicobacter pylori was detected in 88 of 100 consecutive patients attending the gastrointestinal clinic for upper endoscopy. Although the "one-minute" urease test was more sensitive [86% (76/88)] than the conventional Christensen's urease test [70% (62/88)], this difference was not statistically significant (P = 0.22). Histology was the most sensitive [97% (85/88)] whilst culture was 80% (70/88) sensitive. All tests exhibited specifications of 100%. The "one-minute" urease test is a simple, rapid and highly specific test to detect Helicobacter pylori which can be performed at endoscopy.

Bacteriological Techniques↗

Genital ulcer disease: accuracy of clinical diagnosis and strategies to improve control in Durban, South Africa.

OBJECTIVE: To investigate the accuracy of clinical diagnosis in genital ulcer disease (GUD); to devise management strategies for improving the control of GUD and thereby limit the spread of HIV-1 infection. DESIGN: Clinical and microbiological assessment of GUD in men and women. The index of suspicion, diagnostic accuracy, diagnostic efficiency and positive and negative predictive values of a clinical diagnosis were investigated. SETTING: City Health Sexually Transmitted Diseases Clinic, King Edward VIII Hospital, Durban, South Africa. PARTICIPANTS: 100 men and 100 women with genital ulcers. RESULTS: The accuracy of a clinical diagnosis was, in men: lymphogranuloma venereum (LGV) 66%, donovanosis 63%, chancroid 42%, genital herpes 39%, primary syphilis 32%, mixed infections 8%, and in women; secondary syphilis 94%, donovanosis 83%, genital herpes 60%, primary syphilis 58%, chancroid 57%, LGV 40%, mixed infections 14%. Overall, diagnostic efficiency was greater in women than in men. When compared with other causes of GUD, donovanosis ulcers bled to the touch and were larger and not usually associated with inguinal lymphadenopathy. In women, extensive vulval condylomata lata were readily differentiated from all other causes of GUD. CONCLUSION: A clinical diagnosis in genital ulceration was less accurate in men than in women. The diagnostic accuracies for donovanosis and secondary syphilis were relatively high but for most other conditions were low. Differences between clinical and laboratory diagnostic accuracies may reflect similarities between the clinical appearances of the various causes of GUD, the presence of mixed infections, atypical ulceration due to longstanding disease, and insensitive laboratory tests. In this community all large ulcers should be treated empirically for syphilis and donovanosis. Uncircumcised men with GUD are an important HIV core or "superspreader" group locally, and prevention strategies should include counselling and health education in the light of the inaccuracy of clinical diagnosis found in this study. The development of rapid accurate tests for GUD is urgently required.

Chancroid↗

Microbiology of acute epididymitis in a developing community.

OBJECTIVE: To investigate the aetiology of acute epididymitis in a developing community with a view of determining appropriate antimicrobial therapy. SETTING: City Health Sexually Transmitted Diseases Clinic, King Edward VIII Hospital, Durban, South Africa. PARTICIPANTS: 144 adult men with clinically diagnosed acute epididymitis. METHOD: Endourethral swab and midstream urine (MSU) specimens were processed to detect sexually transmitted pathogens and urinary tract infections. RESULTS: The majority of patients (93%) were less than 35 years of age. Neisseria gonorrhoeae and/or Chlamydia trachomatis were detected in 78% of patients: N gonorrhoeae in 57%, C trachomatis in 34% and both in 13%. Escherichia coli was cultured more frequently from MSU specimens of older patients, 30% versus 3%. In 53% of patients urethritis was diagnosed by the presence of inflammatory cells in endourethral smears in the absence of a visible urethral discharge. CONCLUSION: In our setting of a busy clinic with limited facilities, we recommend the performance of a Gram stain on endourethral specimens from patients with acute epididymitis. If inflammatory cells and Gram negative diplococci are detected, treatment with antimicrobial agents to cover both penicillinase-producing N gonorrhoeae strains and C trachomatis is recommended. If Gram negative diplococci are not detected in the presence of microscopic evidence of urethritis, treatment for chlamydial infection alone is recommended.

Acute Disease↗

Vaginal yeast infections in diabetic women.

Two hundred and three diabetic women (89 with and 114 without genital symptoms) were examined for the presence of yeasts and Trichomonas vaginalis. Yeasts were isolated from the vaginas of 35.5% of patients and were more common in the symptomatic group (48.0%) than the asymptomatic group (25.4%; P < 0.05). Candida albicans was isolated from 12.8% of all patients and showed a significant association with pruritus vulvae (P < 0.05). A significant association was also shown between the presence of yeasts in the rectum and in the vagina. C. glabrata (Torulopsis glabrata) was the commonest yeast species isolated (50.0%), with C. albicans the next most frequent (36.1%). T. vaginalis infection was present in 14.3% of all subjects.

Adolescent↗

Sexual behaviour in Zulu men and women with genital ulcer disease.

OBJECTIVE--To investigate patterns of sexual behaviour in men and women with genital ulcer disease (GUD) and their relevance to HIV-1 transmission. METHODS--A sexual behaviour questionnaire was administered by the same interviewer to all participants who were also entered into a study of the microbial aetiology of GUD. SETTING--City Health Sexually Transmitted Diseases Clinic, King Edward VIII Hospital, Durban, South Africa. PARTICIPANTS--100 Zulu men and 100 Zulu women. RESULTS--36 (%) of men and 36 (%) of women had continued with sexual intercourse despite GUD. Patients with donovanosis and secondary syphilis were more likely than those with other causes of GUD to have intercourse despite ulcers. During swab collection bleeding was observed from ulcers in 59 women and 26 men. Prostitutes were not identified and were rarely named as source contacts. Men had more sexual partners (190) than women (122) during the previous three months. Condom use was minimal. Men who migrated between urban and rural areas appeared to have the most sexual partners. Urban women had more partners than women from rural areas. CONCLUSIONS--Men and women with GUD are practising riskful sexual behaviour and could benefit from behaviour modification programmes. In this community men who travel between urban and rural areas and who present late with GUD that bleeds easily are probably the most important high-frequency HIV transmitter core group. A significant potential risk of blood to blood contact during sexual intercourse exists in patients with GUD.

Black People↗

Nosocomial colonisation and infection in a paediatric respiratory intensive care unit.

A study of the prevalence of nosocomial colonisation and nosocomial infection (NI) was conducted in the paediatric respiratory intensive care unit of a large teaching hospital serving a developing community. Surveillance specimens were collected regularly from 63 consecutive patients admitted over 4 months, and also from professional staff, boarder mothers, cleaners and the unit environment. The incidence among patients of colonisation (40%) and of NI (43%) was high. The risk of dying in children with NI was appreciably increased (relative risk 2,241, confidence interval 0,591-8,503). This did not reach statistical significance, probably because so few children escaped acquiring hospital organisms. The significant risk factor for acquiring colonisation (P = 0.008) and NI (P < 0.0001) was a ward stay of more than 10 days. In addition, for acquiring NI an age of under 6 months was also predictive (P = 0.0298). The nature of the primary illness dictated the time spent in the ward; an important proportion of patients had preventable diseases, such as measles, pneumonia and tetanus, which required prolonged treatment. All children with endotracheal intubation had hospital-acquired organisms in tracheal aspirates. Eighty-two per cent of children developed positive gastric aspirates, 17% a positive urine culture and 11% a positive blood culture. Colonisation occurred rapidly; organisms initially appeared in gastric aspirates (mean 2 days), then in tracheal aspirates (mean 5 days) and urine cultures (mean 10 days). The acquired organisms, many of which were antibiotic-resistant, were almost exclusively enteric Gram-negative bacilli (GNB) and Staphylococcus aureus.(ABSTRACT TRUNCATED AT 250 WORDS)

Cross Infection↗

Evaluation of various laboratory techniques to diagnose Helicobacter pylori in patients with upper gastro-intestinal tract symptoms.

Helicobacter (Campylobacter) pylori is strongly associated with type B gastritis. The detection of H. pylori, which entails histological examination and culture of gastric biopsy specimens, takes several days. There has been much interest in developing more rapid tests, including non-invasive ones. Using histology and/or culture as the 'gold standard', several methods to detect H. pylori were compared and evaluated. The organism was detected in 84 of 100 consecutive patients attending the Gastrointestinal Unit of King Edward VIII Hospital for upper gastrointestinal tract endoscopy. Histological examination was the most sensitive (98%) and specific (100%) method used in detecting H. pylori in gastric biopsy specimens. An enzyme-linked immunosorbent assay to detect specific IgG antibodies to whole H. pylori organisms is a moderately sensitive (82%), non-invasive method but it is nonspecific (38%). Although culture was specific (100%), it was less sensitive (68%) than histological examination. The 'conventional' urease assays must be performed under controlled conditions (37 degrees C) for optimal results (sensitivity, 71%).

Bacteriological Techniques↗