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Biomedical subjects

M Petrou

Publications and source records attributed to M Petrou.

At least 37 records · Page 2Linked to original sources

Audit of prenatal diagnosis for haemoglobin disorders in the United Kingdom: the first 20 years.

OBJECTIVES: To audit services for prenatal diagnosis for haemoglobin disorders in the United Kingdom. DESIGN: Comparison of the annual number of cases recorded in a United Kingdom register of prenatal diagnoses for haemoglobin disorders, with the annual number of pregnancies at risk of these disorders, by ethnic group and regional health authority. The number of pregnancies at risk was estimated using data on ethnic group from the 1991 census and data from the United Kingdom thalassaemia register, which records the number of babies born with thalassaemia. SETTING: The three national prenatal diagnosis centres for haemoglobin disorders. SUBJECTS: 2068 cases of prenatal diagnosis for haemoglobin disorders in the United Kingdom from 1974 to 1994. MAIN OUTCOME MEASURES: Utilisation of prenatal diagnosis by risk, ethnic group, and regional health authority. Proportion of referrals in the first trimester and before the birth of any affected child. RESULTS: National utilisation of prenatal diagnosis for haemoglobin disorders was around 20%. During the past 10 years it has remained steady at about 50% for thalassaemias and risen from 7% to 13% for sickle cell disorders. Utilisation for sickle cell disorders varies regionally from 2% to 20%. Utilisation for thalassaemias varies by ethnic group. It is almost 90% for Cypriots and ranges regionally for British Pakistanis from 0% to over 60%. About 60% of first prenatal diagnoses are done for couples without an affected child. Less than 50% of first referrals are in the first trimester. CONCLUSIONS: National utilisation of prenatal diagnosis for haemoglobin disorders is far lower than expected, and there are wide regional variations. A high proportion of referrals are still in the second trimester and after the birth of an affected child. The findings point to serious shortcomings in present antenatal screening practice and in local screening policies and to inadequate counselling resources, especially for British Pakistanis.

Africa↗

Prenatal detection of Hb mutations using transcervical cells.

Prenatal diagnoses were performed on six selected pairs of parents known to be carriers of Hb mutations by testing transcervical cells (TCCs) retrieved, prior to chorionic villus sampling (CVS), by aspiration of the cervical mucus from the pregnant mothers at 10-12 weeks of gestation. A concordance between the results of testing chorionic villus cells and isolated clumps of trophoblastic cellular elements was observed in four of the six cases.

Cervix Uteri↗

Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population.

beta-thalassaemia is a major health problem in Egypt. It has been estimated that of the 1.5 million live births. 1000 children with beta-thalassaemia major are born annually. Although the available treatment has increased the life expectancy of patients, it is still unsatisfactory and represents a significant drain on the country's resources. National screening and prenatal diagnosis programmes can be provided in Egypt once the spectrum of beta-thalassaemia mutations has been identified within the Egyptian population. We have examined 16 DNA samples with 21 beta-thalassaemia mutations that remained unidentified in a study of 54 patients reported by Rady and colleagues in 1996. Using the polymerase chain reaction and single strand conformation analysis we identified the following changes: frameshift (FS) codon (CD) 8/9 (+G), 4 FS CD 29 (-G) and 2 novel mutations in exon I (15 CD 22 A-C and 1 FS CD 28 -C). In addition, a silent, probably polymorphic mutation, CD 17 G-A was present in all chromosomes.

DNA Mutational Analysis↗

Comparative study of the biomechanical performance of trained and untrained skeletal muscle.

UNLABELLED: Changes in contraction and relaxation parameters during chronic electrical stimulation can exert profound effects on diastolic augmentation during skeletal muscle assistance (SMA) of the circulation, in both short and long term. The physiological properties of latissimus dorsi muscle (LD) performance in a system that mimics the clinical setting has not been adequately studied. OBJECTIVE: To quantify changes in the biomechanical performance of trained and untrained skeletal muscle in relation to circulatory assistance using an ex-vivo Windkessel mock circulation. METHODS: Twelve Welsh Mountain sheep were divided into 2 groups: Group A (n = 6) underwent implantation of intramuscular electrodes into the left LD connected to a myostimulator (Telectronics Pacing Systems, Inc., Colorado) and progressively trained by burst stimulation over a 12-week period using standard stimulation parameters (2.5-5 V, 35 Hz, 6 pulses per burst, 240 microseconds per pulse); Group B (n = 6) were the untrained controls. At the end of 12 weeks, the LD was mobilised on its neurovascular pedicle and wrapped around a latex rubber aorta connected to two Windkessel chambers pressurised to 70 mmHg and stimulated to contract 40 times per minute continuously for 60 min. Pressure change per contraction (augmentation, delta P), volume displacement, contraction (Ct) and relaxation to 90% (Rt90) times, and the standardised rate of change of pressure generation (+dP/dt: delta P) and decay (-dP/dt: delta P) were determined and assessed for potential clinical efficacy. RESULTS: In Group A, the LD was fatigue-resistant in all 6 animals with a mean pressure augmentation of 13.7 (s.e.m. 1.3) mmHg and mean stroke volume of 12.5 (s.e.m. 1.0) ml. These muscles were slow with a mean Ct and +dP/dt: delta max of 243.2 (s.e.m. 6.1) ms and + 6.5s-1, respectively, and Rt90 and -dP/dt: delta max of 261.0 (s.e.m. 4.8) ms and -7.8s-1, respectively. In contrast, the LD in Group B was fatiguable with a mean pressure augmentation and stroke volume of 24.6 (s.e.m. 0.9) mmHg and 21.1 (s.e.m. 0.7) ml at 1 min and only 5.4 (s.e.m. 0.3) mmHg and 5.2 (s.e.m. 0.3) ml, respectively, at 30 min (P < 0.001). These muscles were faster at all time points compared to group A (P < 0.02). Acute diminution of power output per contraction in Group B coincided with a prolongation in the Rt90 by 101% compared to the Ct which decreased by less than 5% (P < 0.001). The Ct/Rt90 ratio did not significantly change during performance testing in Group A (fatigue-resistant animals) (P > 0.1). CONCLUSIONS: Using a mock circulation system, we have identified significant differences in biomechanical properties of trained and untrained skeletal muscle. Optimisation of these parameters during and after electrical training may alter the clinical efficacy of SMA.

Animals↗

Unresponsive HIV-related oro-oesophageal candidosis--an evaluation of two new in-vitro azole susceptibility tests.

Azole-resistant HIV-related candidosis is increasingly recognized. We evaluated two new in-vitro susceptibility tests (the NCCLS proposed MIC method and Odds' assessment of relative growth in single anti-fungal concentration) as predictors of the clinical outcome of 66 HIV-positive patients with oral candidosis, of whom 22 were azole naive, 27 had always previously responded to azole therapy and 17 had persistent candidosis unresponsive to 7 days of standard azole therapy. None of the last group responded to increased daily doses of fluconazole or itraconazole capsules, though nine responded to itraconazole cyclodextrin solution 200 mg bd for 7 days. Our findings suggest that agreement between the Odds' test and the MIC method was excellent (96-98%) and that both could discriminate between isolates of azole-unresponsive patients and those of azole-responsive patients. For fluconazole susceptibility an MIC > or = 8 mg/L detected fluconazole-unresponsive patients with a sensitivity of 94% and specificity of 100%; Odds' method achieved 100% sensitivity and 100% specificity using all cut-offs between 77 and 88% relative growth in medium containing fluconazole (10(-5) M; 3 mg/L). For itraconazole and ketoconazole agreement between MIC and Odds' method was again excellent (98% and 96%, respectively) but five azole-unresponsive patients appeared to have ketoconazole-susceptible organisms as defined by both tests, and similarly 11 appeared to have itraconazole-susceptible organisms by both tests despite failing to respond to the capsule formulation of the drug. Of these 11, eight responded to itraconazole solution; this finding implies that itraconazole capsule failure might represent poor drug absorption rather than fungal resistance.

AIDS-Related Opportunistic Infections↗

Identification and elimination of cardiac contribution in single-trial magnetoencephalographic signals.

A two-step method for identification and elimination of the cardiac contribution in single-trial magnetoencephalographic (MEG) signals is proposed. In the first step, the mean interfering signal (MIS) in one period is estimated by QRS-synchronous averaging of the raw MEG data. In the second step, a QRS-synchronous segmentation of the MEG signals is performed and each signal segment is Gram-Schmidt orthogonalized with the MIS. The above method is applied both to artificial and real MEG data. In each case the heart interference is all but eliminated whereas the components of interest, generated by the brain, remain almost unaffected.

Algorithms↗

Relationship between the severity of beta-thalassaemia syndromes and the number of alleviating mutations.

Thalassaemia intermedia, defined as homozygous beta-thalassaemia in which patients are not transfusion-dependent, covers a wide range of clinical severity. It may arise because one or more genetic factors ameliorate the otherwise severe phenotype of thalassaemia major. Exactly which and how many such mutations are necessary to produce a thalassaemia intermedia phenotype is incompletely understood, although such information would be useful both clinically and for prenatal diagnosis. We examined DNA from 28 patients with thalassaemia intermedia resident in London and 28 matched patients with thalassaemia major, for 3 types of genetic modifying factors, namely; mild beta-thalassaemia mutations, the upstream XmnI G-gamma globin gene polymorphism, and alpha-globin gene deletions. The results show that the number of alleviating mutations present has a large influence on the phenotype of patients with homozygous beta-thalassaemias. A single alleviating mutation was present in 56% of thalassaemia intermedia subjects compared with 26% of thalassaemia major subjects. Two alleviating mutations were present in 33% of thalassaemia intermedia subjects compared with 1 thalassaemia major subject. No patients with thalassaemia major had 3 alleviating mutations, in contrast to 11% of those with thalassaemia intermedia. Although the findings did not account for the full range of phenotypic variation, such information is of potential value both in the clinical management and the prenatal diagnosis of homozygous beta-thalassaemia.

Adolescent↗

Indications and outcome of surgery for pulmonary aspergilloma.

BACKGROUND: The indications and the outcome of surgery for pulmonary aspergilloma remain highly controversial. The short term and long term results of lung resection or cavernostomy in 24 patients with pulmonary aspergilloma are reported. METHODS: The case notes of 27 consecutive patients referred for surgical assessment for pulmonary aspergilloma at the Royal Brompton Hospital over the last 14 years were reviewed. Patients were categorised into four classes according to their fitness for lung resection and the severity of their symptoms. Severe symptoms were defined as life threatening haemoptysis or other symptoms requiring more than one hospital admission. Class I (n = 1), fit individual with mild or no symptoms; class II (n = 17), fit individuals with severe symptoms; class III (n = 1), unfit individual with no symptoms; and class IV (n = 8), unfit individuals with severe symptoms. Two asymptomatic patients and one on an IVOX pump were not accepted for surgery. Lung resection was performed in all 17 patients with class II disease, comprising segmentectomy only in five patients, lobectomy and segmentectomy in seven, and a completion pneumonectomy in five patients. Cavernostomy was performed in seven patients with class IV disease. RESULTS: Surgery was often complicated by prolonged air leakage and infection of residual space. There was no operative mortality in the group treated by resection whereas two of those who underwent cavernostomy died in the early postoperative period. All survivors were followed up for a median of 17 months (range 1-72 months); 19 were alive and had no symptoms attributable to aspergilloma. Late recurrence occurred in two patients in the cavernostomy group. The only late death occurred in the resection group five months postoperatively and was attributed to end stage renal disease. CONCLUSIONS: Lung resection in selected patients with complicated aspergilloma can be performed with low operative mortality. Cavernostomy is associated with high mortality and morbidity and should therefore only be performed in patients with life threatening symptoms who are unfit for lung resection.

Adult↗

Molecular genetics of beta-thalassaemia in Pakistan: a basis for prenatal diagnosis.

Thalassaemia is the most common inherited disorder in Pakistan and there are very inadequate treatment facilities for over 4000 homozygotes born each year. Prevention of these disorders therefore forms an essential part of the management of this enormous health problem. We have characterized 1216 beta-thalassaemia alleles from the five major ethnic groups of Pakistan. The complete spectrum comprised 19 different mutations. There are important ethnic and regional differences in the prevalence of mutations. The five most common mutations, IVSI-5 (G-C) (37.3%), Fr 8-9 (+G) (25.9%), del 619 (7.0%), Fr 41-42 (-TTCT) (6.7%) and IVSI-1 (G-T) (5.4%), constitute 82.3% of the total. Fr 8-9 (+G) is the most common mutation in Northern Pakistan (41.3%), whereas IVSI-5 (G-C) is the most frequent mutation in Southern Pakistan (52.2%). Six subjects with transfusion-dependent thalassaemia major showed only a single mutant allele. One subject with transfusion-dependent thalassaemia major showed a novel 17 bp deletion involving Cd126-131. Our findings provide a comprehensive basis for carrying out prenatal diagnosis of thalassaemia in a geographical area where it is found in high frequency.

Base Sequence↗

Clenbuterol induces hypertrophy of the latissimus dorsi muscle and heart in the rat with molecular and phenotypic changes.

BACKGROUND: Skeletal muscle assistance of the circulation for patients in end-stage heart failure requires electrical training of the latissimus dorsi flap to produce fatigue resistance. This process of electrical transformation and the development of postmobilization atrophy results in a profound loss in peak power generated. The beta 2-adrenoceptor agonist clenbuterol was used to investigate its potential to selectively induce skeletal muscle hypertrophy, particularly the latissimus dorsi muscle (LDM), independent of adverse effects on cardiac muscle. METHODS AND RESULTS: Forty-one male Sprague-Dawley rats were divided into four groups and used in this study. Clenbuterol 2 micrograms.g body wt-1.d-1 was administered subcutaneously for a period of either 5 weeks (group A) or 2 weeks (group A1). Groups B and B1 (controls) were injected with 0.5 mL normal saline once daily. At the end of the experimental period, all rats were weighed and terminally anesthetized for removal of the left LDM, left gastrocnemius-plantaris-soleus (GPS) muscles, and heart. The results showed that the increase in body weight did not differ significantly between the clenbuterol-treated and control groups (P > .5). The ratio of LDM to tibial length (hypertrophic index) for groups A and A1 was significantly greater than controls (P < .01), which represented a 20% to 29% increase. The hypertrophy was more pronounced for hindlimb skeletal muscle (21% to 35% for GPS), and the effects of this relatively high dose of clenbuterol on the heart were less marked (18% to 20% hypertrophy). RNA analyses indicate that ventricles of clenbuterol-treated rats express elevated levels of mRNA to atrial natriuretic factor without a concomitant increase in skeletal alpha-actin and beta-myosin heavy chain, consistent with a "physiological" form of cardiac hypertrophy. CONCLUSIONS: Clenbuterol induces significant hypertrophy of the LDM associated with specific changes in cardiac gene expression.

Adipose Tissue↗

Management of recurrent malignant pleural effusions. The complementary role talc pleurodesis and pleuroperitoneal shunting.

BACKGROUND: Recurrent pleural effusions in patients with advanced cancer is a common problem that causes significant morbidity and can negatively affect patients' quality of life for their remaining months. Several palliative treatment options are available. METHODS: The results of a 10-year experience with 180 patients referred for the surgical palliation of their condition were retrospectively reviewed. Their mean age was 60 years (range, 20-90 years). One hundred and thirty-four patients (74%) had been treated before referral with one or more of the following modalities: repeated needle thoracocentesis (87 patients), tube thoracostomy (24 patients), chemical or biologic pleurodesis (22 patients), and pleurectomy (1 patient). One hundred and seventeen patients demonstrated full lung expansion at thoracoscopy/mini-thoracotomy and underwent talc pleurodesis, whereas the other 63 patients had the "trapped lung syndrome" and required the insertion of a pleuroperitoneal shunt (Denver, Biomedical, Inc). RESULTS: There were no intraoperative deaths and the early death rate was 5.9% for the talc pleurodesis group and 3.2% for the group that received shunts. The mean hospital stay for the patients receiving talc and shunts was 7.3 days (range, 3-15 days) and 5.9 days (range, 2-12 days), respectively. Follow-up data were available in 60% of the patients and showed that effective palliation was achieved in more than 95% of patients in each group. There were eight patients (12%) with blocked shunts (five requiring replacement or renovation and three requiring removal and open drainage) at 1 week to 4 months after insertion. Two patients (one from each group) required one further episode of treatment by thoracocentesis. The median survival for the talc and shunt groups was 4.9 months (range, 1-36 months) and 5.4 months (range, 1-53 months). Patients with effusions because of secondary breast carcinoma or lymphomas survived the longest. CONCLUSION: In patients with malignant pleural effusions in whom pleurodesis is precluded by limited lung expansion, effective palliation can be achieved by pleuro-peritoneal shunt insertion.

Adult↗

Prenatal screening for haemoglobin disorders.

The technology has been available to detect carriers of haemoglobin disorders since the late 1960s. Prenatal diagnosis has been available since 1978. First trimester diagnosis by chorionic villus sampling and DNA analysis was introduced in 1982, and subsequent simplifications in DNA technology have made screening, counselling and prenatal diagnosis cost-effective at the community level, in countries at all levels of development. Audit of prenatal diagnosis for haemoglobin disorders in countries which have the resources and infrastructure necessary for genetic population screening (such as the UK and other European countries), has shown that the number of prenatal diagnoses actually performed fall far short of expectation. The demonstration that this reflects failures in delivering information, screening and counselling to the populations at risk, rather than rejection of prenatal diagnosis, shows the importance of placing more emphasis on the organisational and social requirements for genetic population screening. In some countries current attitudes towards abortion exclude provision of prenatal diagnosis within the health service, but in many such cases it has been set up in the private sector. It is also being introduced through combined private and charitable efforts in an increasing number of developing countries, including some with extremely limited health resources: such centres are likely to act as nuclei for emergence of genetics services in these communities. A particularly notable recent achievement is the introduction of prenatal diagnosis in Nigeria, where 1-2% of all children born suffer from sickling disorders.

Developing Countries↗

Hereditary anaemias and iron deficiency in a tribal population (the Baiga) of central India.

We have studied the prevalence and molecular nature of hereditary anaemias (abnormal haemoglobins, beta-thalassaemia, alpha-thalassaemia, and Glucose 6 phosphate dehydrogenase (G6PD) deficiency) in a primitive central Indian tribe, the Baiga. 43% of the population appear to be iron-deficient. Hereditary anaemia gene frequencies are, sickle cell 0.0824, G6PD deficiency (in males) 0.0457, beta-thalassaemia 0.0057, and deletional alpha-plus thalassaemia 0.65. Both -alpha 3.7 and -alpha 4.2 deletions were observed and non-deletional alpha-thalassaemia was suspected. The overall gene frequency of Xmn I+polymorphism (C-->T - 158 cap site; upstream of G gamma region) is 0.35. This polymorphism is preferentially linked to beta s genes. It appears that sickle cell disease covers a wide range of severity in the Baiga tribe based on higher mortality in the offspring of AS x AS parents (2.5/couple) compared to AA x AS (0.75/couple) and AA x AA (0.76/couple) parents. This is compatible with the high frequency of genetic modifying factors, i.e., the Xmn I polymorphism and alpha-thalassaemia. The results also indicate that "normal" red cell values must be defined for each population where thalassaemias, G6PD deficiency and iron deficiency are common.

Anemia↗

Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.

Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of locus heterogeneity. Several COL7A1 mutations have now been identified in recessive dystrophic EB patients. Prenatal diagnosis has been performed by examination of a fetal skin biopsy taken at about 16 weeks' gestation, and relies on identification of characteristic ultrastructural and immunohistochemical changes. We have now achieved a first trimester prenatal diagnosis using intragenic and flanking COL7A1 markers in a pregnancy at risk for recessive dystrophic EB. Segregation of the informative markers predicted the baby would be an unaffected carrier. The pregnancy continued to term and a healthy baby was born, confirming this result.

Collagen↗

The surgical treatment of emphysema. The Brompton approach.

The vast majority of patients suffering with emphysema cannot be helped by surgery. A fortunate minority, consisting of specific subsets of patients, can benefit, but to do so the surgeon must have a flexible approach and select the optimal procedure for each patient. There is no one operation that is ideal in all circumstances. A major exploratory thoracotomy remains the approach of choice in specific situations (1) when dealing with the rare patient who has a congenital air cyst in the context of otherwise normal lungs. Local excision usually is possible but lobectomy may be necessary; (2) when dealing with an infected bulla in which the situation can only be ascertained at operation, where adhesions may cause difficulty and drainage may prove inappropriate, and lung resection is necessitated; and (3) when operating for a pneumothorax in which the situation can only be assessed at operation, and control of air leak is mandatory by ligation, bullectomy, or intracavitary drainage. The future role of video-assisted operations in this context must await the longer follow-up of larger series. In the elective management of patients with emphysema, those with a dominant bulla we continue to treat by intracavitary drainage. The Brompton technique offers a simple, safe, and effective therapeutic option in carefully selected patients. We believe the advantages to be threefold. Firstly, the use of CT scanning, important in patient selection, allows one to plan the incision so that a minithoracotomy can be performed, reducing the morbidity and mortality formerly associated with thoracotomy in patients with poor respiratory reserve. Secondly, the approach obviates the need to resect adjacent lung tissue, which in a generalized and progressive disease may be physiologically of disproportionate importance. Finally, pleurodesis allows any future recurrent bullae to be intubated and drained percutaneously under local anesthetic with minimal risk of pneumothorax. In those patients who have generalized emphysema without significant bullae, the role of volume-reduction surgery is being investigated. We await longer-term follow-up but fear that with wider application this major operation will accumulate significant mortality. Transplantation remains an option that must be limited to the youngest patients and those who are close to the terminal phase of their illness.

Drainage↗

The management of tracheobronchial obstruction: a review of endoscopic techniques.

Tracheobronchial obstruction is a distressing cause of morbidity and mortality in patients with benign and malignant disease. Resection offers curative treatment for a few, but for the majority of patients who are too frail for surgery, and for those benign and malignant cases where the disease is too extensive for resection, there is a need for an effective method of palliation. We retrospectively reviewed the results of a 9-year experience in 86 patients with major airways obstruction (51 malignant and 35 benign) treated on one or more occasions using various endoscopic techniques. Nineteen patients presented as an emergency. Thirty-nine had received other forms of treatment beforehand including external radiotherapy and laser resection (Nd:YAG). Treatment undertaken in our institution was: diathermy resection (36 patients), gold grain implantation (16 patients), bougienage (9 patients), cryotherapy (2 patients), Montgomery T-tube and T-Y stent (28 patients) and varied endotracheal and endobronchial stents (40 patients). Twenty-two patients were treated with more than one modality at the first treatment session. Twenty-one patients required revision of their endobronchial stents or T-tubes because of displacement or partial occlusion by mucous accretions. There were no intraoperative deaths or complications and the average length of stay was 5 days (range: 2 to 14 days). Eighty-three patients reported immediate symptomatic relief. Objective improvement in lung function tests was demonstrated in patients whose condition was less acute and preoperative measurements could be made. In the diathermy resection group there was an average improvement in forced expiratory volume in 1 s (FEV1) of 53.1% and in the forced vital capacity (FVC) of 20.6%.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

Management of pulmonary aspergillosis in AIDS: an emerging clinical problem.

AIMS: To review the clinical, radiographic, and therapeutic features of 11 cases of respiratory Aspergillus infection in patients with AIDS. METHODS: All induced sputum and bronchoalveolar lavage samples obtained from HIV seropositive patients between January 1985 and March 1993 were analysed for Aspergillus species. Additionally, where appropriate, bronchial or renal biopsy specimens, or both, were taken before treatment had started. RESULTS: In 11 patients Aspergillus fumigatus was identified in alveolar samples obtained by sputum induction. This was confirmed by bronchoalveolar lavage in eight. Three patients had Aspergillus plaques in the trachea and bronchus, while a fourth patient had an aspergilloma. Risk factors for Aspergillus infection were present in all patients, including corticosteroid treatment in three cases and neutropenia in four, three of whom had received chemotherapy for Kaposi's sarcoma. Four patients had concomitant cytomegalovirus infection. Ten patients had a CD4 count of less than 50 cells/mm3 while one patient had a disseminated T cell lymphoma with a CD4 count of 242 cells/mm3. Of the three patients with samples obtained by sputum induction who did not undergo bronchoscopy, two had a normal chest x ray picture and the third had a right lobar pneumonia complicating an aggressive lymphoma. All three were treated with itraconazole 200 mg twice a day without further investigation. Survival from the time of diagnosis of Aspergillus infection was short: seven patients died within six weeks, although only one death was directly attributed to pulmonary aspergillosis. At six monthly follow up, one patient, who initially had a positive Aspergillus culture from bronchial washings and a normal chest radiograph, developed a renal aspergilloma despite the disappearance of Aspergillus sp from the sputum. CONCLUSION: Pulmonary aspergillosis is an important clinical problem in patients with AIDS with a CD4 count of less than 50 cells/mm. Furthermore, patients with Aspergillus sp in sputum induction or bronchial washings may develop disseminated disease despite adequate treatment of the primary infection.

AIDS-Related Opportunistic Infections↗

Thalassaemia in Azerbaijan.

beta thalassaemia is present throughout the southern regions of the former USSR. We have defined the clinical picture of the disorder, the spectrum of beta thalassaemia mutations, and the role of customary consanguineous marriage in Azerbaijan, where thalassaemia presents a public health problem of the same order as that in Greece. Contrary to earlier suggestions, we found that the common form of the disorder is typically severe. Typical Turkish, Mediterranean, Azeri, Kurdish, and Asian Indian mutations were found, consistent with the history of the region. The common Mediterranean beta 0 thalassaemia mutation (codon 39) was not found. Three mutations (codon 8-AA, IVS2-1 and IVS1-110) account for over 80% of beta thalassaemia genes. Consanguineous marriage appears to contribute relatively little to the frequency of affected births. These observations provide the basis for a thalassaemia prevention programme in Azerbaijan.

Adolescent↗