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Biomedical subjects

C Wallis

Publications and source records attributed to C Wallis.

At least 55 records · Page 3Linked to original sources
PubMed1997

Lung involvement in the multisystem syndrome CHARGE association.

The CHARGE association is a multisystem syndrome, with a wide range of phenotypic expression, causing mortality, especially in childhood. We performed a hospital audit, in order to quantify the pulmonary implications, in 28 boys and 19 girls aged 0.02-23 yrs, with a definite diagnosis of CHARGE. A review of the records of these children with CHARGE association revealed that aspiration was common during infancy, as a result of inco-ordination of swallowing and gastro-oesophageal reflux. Aspiration was suspected in 22 of the 47 cases (47%), recurrent chest infections occurred in 22 cases (47%), and lung involvement contributed to 7 out of 17 deaths (41%). We conclude that respiratory morbidity and mortality is common in CHARGE, and decreases with age. Early diagnosis and treatment affords the best prognosis.

Abnormalities, Multiple↗
PubMed1996

Pulmonary alveolar microlithiasis in childhood: diagnosis by transbronchial biopsy.

A 7-year-old girl of Arabic origin by consanguineous parents presented with a miliary pattern on chest x-ray. Transbronchial lung biopsy revealed a histological diagnosis of pulmonary alveolar microlithiasis, a condition rarely described in childhood. This report highlights the clinical and radiological features, documents the transbronchial lung biopsy as a useful diagnostic procedure, and suggests a possible genetic etiology with autosomal recessive inheritance.

Bronchoalveolar Lavage Fluid↗
PubMed1995

Toxic epidermal necrolysis with adult respiratory distress syndrome.

A severe case of drug-induced toxic epidermal necrolysis is described in which the adult respiratory distress syndrome developed, requiring a prolonged period of mechanical ventilation and intensive care. The importance of early transfer to the intensive care unit for monitoring and prompt treatment of complications of this rare condition is emphasised.

Adult↗
PubMed1995

Why do patients default from follow-up at a genitourinary clinic?: a multivariate analysis.

OBJECTIVE: Firstly to compare the proportion of patients defaulting from follow up at a genitourinary medicine clinic with those attending other hospital based clinics. Secondly to determine which factors are associated with non attendance at a city centre genitourinary medicine clinic. METHODOLOGY: The proportion of patients who defaulted at a genitourinary medicine clinic, a general medical clinic, a general surgical clinic and a dermatology clinic during March 1995 were compared. A multivariate logistic regression analysis was performed comparing attenders and non attenders at the genitourinary medicine clinic with respect to time of appointment, diagnosis, previous contacts with clinic staff, potential domestic commitments and patient demographics in a prospective case control study. RESULTS: The default rate at the genitourinary medicine clinic was 15% compared with 13%, 15% and 14% for medical, surgical and dermatology clinics respectively. Patients who defaulted from the genitourinary medicine clinic (167) were compared with 172 attenders and significant differences found for timing of appointments, area of residence, frequency of counselling by the health advisor and age of the patient. Other factors such as the diagnosis, whether a woman had children, sexual orientation, whether negative results had been given over the phone, source of referral, sex of patient, employment status and the weather were not found to be significantly associated with defaulting from an appointment. CONCLUSIONS: The time of the appointment and being seen by a health advisor were the only variables identified over which the clinic has control and therefore could potentially reduce non attendance rates.

Adult↗
PubMed1993

Nontuberculous mycobacterial disease in adult cystic fibrosis patients.

This study was conducted to determine the prevalence of mycobacterial disease in an adult cystic fibrosis (CF) population and to determine if there were any patients at higher risk for this disease within the group. Sixty-four patients (28 women, 36 men), ranging in age from 17 to 50 years were screened. One-step purified protein derivative skin testing with controls was performed and sputum was taken for examination. Eight of 64 had positive sputum culture for nontuberculous Mycobacterium. The CF patients with positive mycobacterial sputum cultures tended to be older and to have lower clinical scores than those who did not have Mycobacterium organisms in sputum. Guidelines to determine whether mycobacterial disease or colonization is present should be pursued for the CF population.

Adolescent↗
PubMed1991

Susceptibility of Xanthomonas maltophilia and amikacin-resistant gram-negative bacteria to newer antimicrobials.

The susceptibility of Xanthomonas maltophilia and amikacin-resistant gram-negative bacteria to a variety of newer antimicrobials was determined. Sixty-three amikacin-resistant isolates were collected from 61 inpatients at a tertiary-care hospital between 1985 and 1988. The organisms included Xanthomonas maltophilia (24 isolates), Pseudomonas aeruginosa (16), Pseudomonas species (3), Serratia marcescens (10), Flavobacterium meningosepticum (4), Enterobacter species (3), Acinetobacter calcoaceticus var. anitratus (2), and Alcaligenes xylosoxidans (1). Amikacin resistance was initially determined by using the Kirby-Bauer disk diffusion method. The isolates were batched, and the minimum inhibitory concentrations (MICs) of 11 antimicrobials including amikacin were measured by using the standard agar dilution method. Of the 63 isolates initially found to be amikacin resistant by the disk diffusion method, 37% were found to be amikacin susceptible by MIC testing. Of 38 truly amikacin-resistant isolates, 76% were susceptible to ciprofloxacin, 63% to ofloxacin, 50% to imipenem-cilastatin, 47% to cefoperazone, 45% to ceftazidime, 13% to ceftizoxime, 11% to aztreonam, 11% to ceftriaxone, 5% to cefotetan, and 3% to amdinocillin. Ciprofloxacin and ofloxacin inhibited X. maltophilia to the greatest degree, with median MICs of 1 microgram/ml each. Fifteen amikacin-resistant Ps. aeruginosa isolates were inhibited by ciprofloxacin, imipenem, and ceftazidime, with median MICs of 0.375, 3, and 2 microgram/ml, respectively. Of the antimicrobials tested, ciprofloxacin had the greatest activity against amikacin-resistant organisms in vitro.

4-Quinolones↗
PubMed1990

Hereditary non-polyposis colorectal cancer in a Namaqualand kindred.

A family with hereditary non-polyposis colonic cancer affecting 16 males over three generations is described. Autosomal dominant inheritance with male predominance is demonstrated. The clinical features of this condition and methods for screening family members are discussed.

Adult↗
PubMed1990

Delta F508 testing of the DNA bank of the Royal Manchester Children's Hospital.

Details of haplotype and delta F508 status from various populations represented in the cystic fibrosis (CF) DNA bank of the Royal Manchester Children's Hospital are provided, together with information on the association of genotype and clinical status. Clinical details and DNA analyses from native English in the North-West and South-West of England (Bath), from Lancashire Pakistani families and from Afrikaans Namibian families are compared. A 78.5% incidence of delta F508 has been found in English families. Compound heterozygotes with CF and only one delta F508 gene have an increased likelihood of having milder disease, with less Pseudomonas isolated from sputum and relatively more showing either no regular respiratory pathogens or colonisation with Staphylococcus. There is also a relative increase in meconium ileus in these compound heterozygotes. The diagnosis of CF may be in doubt in some subjects negative for delta F508. Some of the Bath families have unusual haplotypes for an English population and a compound heterozygote delta F508/delta I507 has been found. There is evidence from metD analysis of the founder effect in the Afrikaans Namibian families, who have a high delta F508 incidence.

Cystic Fibrosis↗
PubMed1989

Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues.

An unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the Indian Ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other genetic ectodermal dysplasias and independent syndromic status is probable.

Abnormalities, Multiple↗
PubMed1988

X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) was tightly linked to the disorder, with a lod score of 6.32 at zero recombination. This observation indicates that the gene for this form of deafness maps to the Xq13-q21.1 region and has important implications for carrier screening and antenatal diagnosis.

Chromosome Mapping↗