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The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.

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BACKGROUND: High fever, toxaemia, constipation during first week of fever, complicated by encephalopathy and perforation during third week of fever are the typical manifestations of typhoid fever. However, the classical presentation of typhoid fever has considerably changed now. AIM: To study atypical presentations of typhoid fever. SETTING: A teaching unit of a hospital in South India METHOD: All culture-positive adult patients of typhoid fever admitted over a period of seven years were studied RESULTS: Thirty-two adult patients were admitted. Fifteen (46.9%) patients presented with atypical manifestations. Atypical manifestations observed were burning micturition with normal urine examination (n= 5, 15.6%) diarrhoea in first week (6.2%), encephalopathy in first week (3.1%), isolated hepatomegaly (6.2%), pneumonitis (3.1%) and bone marrow depression (6.2%). Out of 32 Salmonella typhi culture positive patients, 10 (31.3%) patients had multidrug resistant (MDR) strain. Patients with MDR strains had atypical manifestations (5/10=50%) not significantly more often than patients having multidrug sensitive strains (10/22=45.5%) (Z <2). All patients responded to treatment. CONCLUSION: It appears atypical manifestations do not necessarily mean a worse prognosis in typhoid fever. Patients having high fever presenting with pneumonia, early encephalopathy, early diarrhoea or bone marrow depression in a typhoid endemic area, should be suspected for this disease.

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Haemophilia A is the commonest cause of X-linked inherited bleeding disorder. Due to inadequate medical facility for management of the disease, the DNA based genetic diagnosis has assumed great importance. Ideally, the direct detection of mutations is the most accurate and reliable approach for carrier detection and prenatal diagnosis. However, mutation detection is possible only in limited number of cases. In majority of haemophiliacs, no common mutation is easily identifiable. The limitation has been over come by the use of linkage-based analysis using polymorphic DNA markers in the factor VIII gene. Some of these markers can be identified by restriction enzymes and are called RFLP markers. Other markers are a class of short tandem repeats sequences which result in differences in the number of CA repeats in different individuals. The combined use of these markers has made it possible to identify carriers and provide prenatal diagnosis in upto 95% of families having affected individuals. Therefore, the recurrence of the disease can be prevented to a great extent in the haemophilia A affected families.

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BACKGROUND: Mediastinal cysts are uncommonly encountered in a pathologist's experience. AIMS: To study the incidence, location, clinical presentation and histologic subtypes of cysts in the mediastinum. MATERIALS and METHODS: Cystic lesions of the mediastinum, surgically excised over a period of 22 years were studied after retrieval of relevant clinical data and slides. RESULTS: Thirty-nine mediastinal cysts were encountered in the study period. Most of the patients (81.5 %) were symptomatic. Histologically, foregut cysts (19 cases, 50 %) were the most common followed by teratomatous cysts (ten cases, 26.3 %) and thymic cysts (four cases, 10.5 %). Bronchogenic cysts represented 63 % of the fore-gut cysts. Unusual lesions in the form of cystic mediastinal tuberculous lymphadenitis and cystic schwannoma were seen in three patients. CONCLUSIONS: Despite varied location and histology, clinical presentation of mediastinal cysts are similar. Surgical intervention is the preferred line of management.

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BACKGROUND AND AIM: The presence of thyroid nodules with Graves' disease raises concern about co-existent thyroid malignancy. The objective of this study is to evaluate the risk of thyroid carcinoma and the need for surgical intervention in, patients with Graves' disease with co-existent nodules in an endemically iodine deficient area (IDA). SUBJECTS AND METHODS: Retrospective study of 130 surgically managed patients of Graves' disease (1990-1999). Out of these 35 (26.9%) cases had palpable nodules. No patient had history of previous head and neck irradiation or radioiodine therapy. The clinico-pathological findings and follow-up of these cases were noted. RESULTS: Mean age of patients with nodules was 40.2 +/- 9.5 years and male to female ratio was 1:2.2. The overall incidence of thyroid carcinoma in Graves' disease was 6.2% (8/130 cases), while the incidence, in cases having nodule with Graves' disease was 17.1% (6/35 cases). The median age of patients with carcinoma was 45 years (5 women and 1 man). Besides laboratory investigations for hyperthyroidism, preoperative investigations included fine needle aspiration cytology (FNAC) and thyroid scintigraphy in 29 and 25 cases respectively. Incidence of malignancy in palpable cold nodules was 20%. FNAC could not predict malignancy with certainty in any of these cases. Five patients had papillary thyroid carcinoma while one had follicular carcinoma. Median tumour diameter was 10 mm. Tumour was multi-centric in two cases while one case had metastases to cervical lymph node. In follow-up (median =5.5 years) one patient died of unrelated cause, while rest are alive with no evidence of disease. CONCLUSIONS: Nodules are frequently associated with Graves' disease in IDA. Incidence of carcinoma is high in palpable cold nodule. We recommend early thyroidectomy in these cases.

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Three patients of myasthenia gravis, who under went video-assisted thoracoscopic surgery (VATS) were given general anaesthesia by propofol infusion and muscle relaxation by atracurium infusion. Isoflurane was added to control depth of anaesthesia on the basis of haemodynamic changes during surgery. One lung ventilation (OLV) was achieved by placement of Carlens left sided double lumen bronchocatheter. Right-sided surgical approach was used to perform thymectomy. Contrary to claimed short duration of surgery, in first patient, OLV lasted for 10 hours 30 minutes and patient developed re-expansion pulmonary oedema. OLV in second and third patient was for six hours thirty minutes and three hours 45 minutes respectively. Morning dose of pyridostigmine was omitted and atracurium (0.1 mg/kg) was found to be satisfactory for intubation and relaxation was maintained with atracurium infusion to get desired monitored effect. We could not extubate our patients due to longer duration of surgery and the sequelae there off. Post-operative elective ventilation and spontaneous weaning off the atracurium effect was thus preferred.

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BAKGROUND: The spread of drug resistance in Plasmodium falciparum has made the situation essential to look into new effective therapeutic agents like antibiotics. Azithromycin is a potential, chemotherapeutic agent which possesses antimalarial activity and favourable pharmacokinetic properties. It is an azalide microbiocide derived semi-synthetically from macrolide erythromycin. Like other antibiotics, the azalide azithromycin has ability to inhibit protein synthesis on 70S ribosomes. SETTINGS: Experimental study. SUBJECTS AND METHODS: The parasiticidal profile was studied in five chloroquine sensitive and five chloroquine resistant P. falciparum isolates obtained from various places of India. The antimalarial activity was evaluated in P. falciparum schizont maturation by short term culture for 24 hours and by exposing the parasites to the drug for 96 hours. Parasites synchronized at ring stage were put for culture with various concentrations of azithromycin dihydrate (0.01-40 micro/ml). RESULTS: At highest concentration (40 micro/ml), parasite growth was inhibited totally in all 10 isolates. Antimalarial activity at 96 hours was greater than at 24 hours in both chloroquine sensitive and resistant parasites, which may indicate that the inhibition of parasite growth may occur at clinically achievable concentration of the drug when parasites were exposed for several asexual cycles. CONCLUSION: Azithromycin shows a potential for eventual use alone or in combination in the treatment of chloroquine sensitive and resistant P. falciparum malaria.

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A 38-year-old male with acute myocardial infraction who had received streptokinase presented with acute painless diminution of vision in the left eye. Examination revealed features of central retinal artery occlusion on the left side with vision of perception of light. Treatment in the form of systemic and local intraocular pressure lowering agents, retrobulbar xanthinol nicotinate and systemic injection of B-complex resulted in improvement of vision to counting fingers up to one meter. In this case thrombolytic therapy itself led to embolism into the left central retinal artery resulting in its occlusion and eventually optic atrophy and blindness.

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A rare case of periaqueductal glioma with an unusual radiological picture is presented. A forty-five year old male presented with progressive bilateral third and eighth nerve paresis. Magnetic resonance imaging (MRI) revealed a diffuse periaqueductal tumour with sparing of aqueduct and no hydrocephalus. MRI is a useful adjunct in such a situation for contemplating appropriate modality of treatment.

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