A nonconsanguineous asymptomatic couple, were identified as carriers of factor VII (FVII) deficiency when two of their newborn children died of massive intracranial hemorrhage secondary to severe congenital FVII deficiency. Complete sequence analysis of the factor VII (F7) gene in this couple indicated that the mother was heterozygous for an A to G transition at position -2 of the exon 5 acceptor splice site, and the father was heterozygous for a G to T transversion at position +1 of the exon 6 donor splice site. This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation. Our experience with the family reported here further supports the conclusion that mutation-specific detection is reliable in the prenatal exclusion of severe bleeding disorders.
Matched MeSH terms: Factor VII Deficiency/diagnosis*; Prenatal Diagnosis*
From 10th September 1998 till 5th June 1999, the Paediatric and Cardiothoracic Surgery Units of Sultanah Aminah Hospital Johor Bahru managed three children with lung collapse secondary to pneumonia. The dominant initial clinical presentation in all three cases was acute abdominal pain. Basal pneumonia was diagnosed in two cases post-operatively after surgical contributory causes were excluded intra-operatively. Thoracotomy, evacuation of infected debris and decortication of the collapsed lung was done in all three cases. In children presenting with acute abdominal pain, basal pneumonia should be considered as a possible contributory cause.
Shirley is a 42 year old woman who has rung you 5 days after returning from a 3 week resort holiday in Malaysia and Thailand. You saw her before her trip and administered a hepatitis A vaccine and advised her that she did not require anti malarial drugs as she was only going to large cities and beach resorts. She says she has had a high fever, headache and body aches for several days and that she feels exhausted, but is well enough to come to the surgery. When you see her later that morning, she looks fairly well, although she is moving rather gingerly. She says she has been resting, is drinking lots of fluids, has some anorexia, but no other significant symptoms. Examination reveals a temperature of 38 degrees C and she has a fine morbilliform rash on her body, limbs and neck. There are no other abnormal findings.
We report a case of bladder outflow obstruction presenting with upper tract dilatation mistaken initially as pelviureteric junction (PUJ) obstruction. The lower tract obstruction ought to be dealt with first before upper tract obstruction is assessed because the renal pelvic pressure is significantly affected by vesical filling and high bladder pressure.
It has been noted in the literature that Osteogenesis Imperfecta is frequently mistaken for non-accidental injury. This article serves to illustrate the difficulty in differentiating between the two conditions and that they can occur concomitantly in one patient.
Five cases of renal angiomyolipoma which underwent spontaneous rupture are described. These patients presented as an "acute abdomen" for which the diagnosis was not initially apparent. A high index of suspicion is required to make the diagnosis even with modern imaging techniques. The treatment of these tumours is discussed.
A 43-year-old lady with long standing non-insulin dependent diabetes mellitus on glibenclamide presented with cholestatic liver disease. Initially she was thought to have developed primary biliary cirrhosis (PBC). When she made a spontaneous recovery following the withdrawal of glibenclamide, it became obvious that the patient had been suffering from drug-induced chronic cholestasis (DICC). The subtle differences between PBC and DICC are highlighted.
Acquired arteriovenous fistula is an unusual complication of lumbar disc surgery. Diagnosis is often late because of the lack of awareness of this complication and also because it may simulate other vascular diseases. A case diagnosed initially as deep vein thrombosis of the leg is described.
This study shows that out of 774 patients tested, the house dust mite (Dermatophagoides pteronyssinus) provoked the maximum response (51.81%) the house dust was second (42.81%), and shrimp was third (23.92%). The moderate allergenic extracts were cat fur (12.79%), dog fur (10.72%), cockroach (8.47%) egg white (7.56%) and orris powder (6.30%). Among the low allergenic extracts were Aspergillus fumigatus (5.38%), Staphyloccus aureaus (3.53%) and chicken feathers (3.18%). The authors are of the opinion that the skin sensitivity test is an important diagnostic tool in allergic rhinitis and since this is a preliminary study any short listing of allergens to be used is not recommended yet. Skin sensitivity tests is a useful tool for differentiating allergic rhinitis from vasomotor rhinitis. Estimation of allergen specific IgE concentration in the serum will not offer any major advantages over the intradermal skin test in determining the clinical significance of house dust mite allergy. 21 The development of local materials for skin testing may enhance the usefulness of these investigations.
Twelve cases of primary hyperparathyroidism operated by the Universiti Kebangsaan Malaysia Surgical Team from 1978 to 1989 were reviewed. There was a preponderance of Indian females in this series. The majority of the cases presented late and with complications. Renal calculi and bone disease were the commonest complications noted. Of the 12 patients, 9 had single parathyroid adenoma of which 4 were ectopically located, and 2 had hyperplasia of the parathyroids. These were all successfully operated. The remaining patient had 2 failed neck explorations. Failure at initial exploration was due to ectopic location of the glands. Meticulous surgical technique, knowledge of the anatomical variations of location of the parathyroid glands and availability of frozen section facility are essential for successful outcome.
The case records of 64 patients with malaria over a five year period admitted to the University Hospital, Kuala Lumpur were examined. There were 32 cases of P. falciparum, 26 cases of P. vivax and two cases of mixed infections. Four cases of P. malariae were recorded. The clinical findings, biochemical and haematological parameters were examined for any indication of a pernicious syndrome. A high index of suspicion of a malarial infection may be based on the findings of anaemia, thrombocytopaenia, hyponatraemia, renal failure and abnormal liver function tests in the face of a negative blood film. These pernicious syndromes occur more often in malignant tertian malaria (anaemia 50%, hyponatraemia 39.1%) but a high percentage of the other malarial species show these abnormalities (P. vivax anaemia 57.7%, hyponatraemia 19.2%). When these abnormalities are present but blood films for malaria parasites are negative, repeat blood films are warranted until a parasitological diagnosis is achieved and correct treatment may be started.
We report a patient with unusual manifestations of hyperthyroidism which initially suggested lymphoma. The pathophysiology of these features in thyrotoxicosis is discussed. The need to consider thyrotoxicosis in an otherwise unexplained case of lymphoid hyperplasia will be stressed.
A patient with marfanoid habitus was admitted to the General Hospital, Kuala Lumpur in October 1985 for surgical closure of an atrial septal defect. He was suspected to have Marfan Syndrome but there was no involvement of the aorta nor the eye. The clinical features were intermediate between that of the Marfan Syndrome and the Ehler's Danlos Syndrome. It is suggested that this could be a separate distinct entity within the heritable disorders of connective tissue known as the Marfanoid Hypermobility Syndrome.
The case notes of twelve jaundiced patients, on whom percutaneous transhepatic cholangiography (PTC) were performed, are reviewed. PTC was carried out to differentiate the patients with intrahepatic cholestasis from those with extrahepatic biliary obstruction, and to identify the site and nature of the block. In eleven cases, the biliary trees were visualised, with the sites of obstruction in those present demonstrated and confirmed at subsequent laparotomies. There was no serious side effect from the procedure. PTC in our hands has proved an invaluable aid in the investigation of the icteric patients.
Electrocardiographic features of the Woljf-Parkinson-White syndrome may be seen in normal individuals and in those with congenital or acquired heart disease. Predisposition to tachyarrhythmias and its misinterpretation are common. In this report a case of Wolff-Parkinson-White syndrome in a 25 year old Malay male who presented with cardiac arrhythmias is described. Echocardiographic findings and the role of echocardiography are discussed.
The acquired immune deficiency syndrome (AIDS) requires no further introduction. Since 1981, when the AIDS was first recognized in the United States, much interest, anxiety and fear have been generated among people all over the world. It has spread inexorably in the United States, Europe and Africa such that the World Health Organization has warned of the beginning of a worldwide epidemic of AIDS. Asia has been relatively spared; nonetheless cases have been reported from Thailand, India, Taiwan, China and Japan.' Malaysia has anticipated the appearance of the disease; an AI DS task force under the auspices of the Ministry of Health was established in early 1986. However, it is only a year later that we now report the first case of AIDS in this country.
The relevant investigations and management of a case of alpha-thalassaemia major suspected antenatally is discussed. The value of ultrasonically guided cordocentesis in the definite diagnosis of this condition is emphasised in the management of this pregnancy. We believe that this is the first time such a procedure has been done in this country.