bluuebunny/crossref_metadata_2025 huggingface dataset:
Idiopathic hypergammaglobulinaemia associated with nephrogenic diabetes insipidus and distal renal tubular acidosis
Authors: Spruce Barbara A. , Baylis P. H. , Kerr D. N. S. , Morley A. R.
Published: December 2008

Renal tubular dysfunction may be recognized in patients suffering from urinary light chain disease or non-myelomatous hypergammaglobulinaemia. We report a patient who has the combination of distal renal tubular acidosis and nephrogenic diabetes insipidus in association with hypergammaglobulinaemia due solely to increased IgG. We postulate that the abnormalities of distal nephron function resulted from cell-mediated immune damage.
Myxoedema presenting as epilepsy
Authors: Rowell N. P. , Clarke S. W.
Published: December 2008

A case of myxoedema presenting as epilepsy is described. In myxoedematous patients without demonstrable cause for their fits, the epilepsy commonly responds to thyroid replacement therapy alone. In this patient, control of hypertension was ineffective in eradicating fits. The association between myxoedema and epilepsy, though previously reported, is surprisingly uncommon and represents a good prognosis within new epileptics.
Coeliac disease with autoimmune haemolytic anaemia
Authors: Miller D. G.
Published: December 2008

Two patients are described who have developed autoimmune haemolytic anaemia in association with their coeliac disease. Autoimmune haemolytic anaemia may represent an extension of immunological disorders linked with coeliac disease, centred on the histocompatibility antigen B8.
Meningococcal meningitis presenting with bilateral deafness and ataxia
Authors: Sandyk R. , Brennan M. J. W.
Published: December 2008

A 50-year-old man presented with bilateral deafness and ataxia of sudden onset and without constitutional symptoms or signs of meningeal irritation. He was subsequently proved to have meningococcal meningitis, and the deafness and ataxia resolved following appropriate antibiotic therapy.
The CREST syndrome—successful reduction of pulmonary hypertension by captopril
Authors: Prouse P. J. , Lahiri A. , Gumpel J. M.
Published: December 2008

A patient with severe pulmonary hypertension due to pulmonary arteriolar obliteration complicating a long standing CREST variant of systemic sclerosis showed improvement in cardiac output and exercise tolerance during treatment with captopril, which was discontinued because of persistent systemic hypotension.

It is suggested that captopril would have a useful and possible prophylactic effect early in pulmonary hypertension in systemic sclerosis.
A patient with six primary carcinomata
Authors: La Ferla Godfrey , Thomson William O.
Published: December 2008

We report a patient who developed six different primary carcinomata over a period of 3 years. These were of sigmoid colon, left breast, left kidney, right breast and two basal cell carcinomata of her face. These were all excised and she remains well with no apparent metastases 5 years after her initial presentation.

Although patients with multiple tumours are uncommon, recognition of such an occurrence is important to avoid attributing symptoms to metastases from a previously diagnosed tumour. Sequential primary tumours may be amenable to treatment.
Human placental lactogen (hPL) deficiency in a normal pregnancy
Authors: Giampietro Ottavio , Ferdeghini Marco , Scatena Paolo
Published: December 2008

A case of human placental lactogen (hPL) deficiency together with normal oestriol levels associated with a normal pregnancy in a woman in her second pregnancy is reported. The woman gave birth to a healthy male infant. The placenta was normal. Extremely low hPL levels may be compatible with the delivery of a healthy infant.
Severe hypertension and raised haematocrit: unusual presentation of Guillain-Barré syndrome
Authors: Richards A M , Nicholls M G , Beard M E J , Parkin P J , Espiner E A
Published: December 2008

A 36 year old man presented with headache, polyuria, thirst and weakness of the lower limbs. Hypertension and a high haematocrit were striking features on initial assessment. Subsequently the full picture of Guillain-Barré syndrome developed. Hormone measurement revealed marked sympathetic nervous system and renin-angiotensin system activation with a return to normal of both blood pressure and hormones with neurological recovery.
Hyperlipidaemia and premature coronary artery disease associated with sex-change in a female
Authors: ffrench-Constant C K , Spengel F A , Thompson G R
Published: December 2008

We describe the management of a genotypic female who developed hyperlipidaemia and premature coronary artery disease following bilateral oophorectomy and methyltestosterone administration, and present evidence to suggest that the therapeutic androgenization involved in the sex-change was responsible for the hyperlipidaemia.
Hypernatraemic dehydration and necrotizing enterocolitis
Authors: Clarke A J , Sibert J R
Published: December 2008

Severe hypernatraemic dehydration developed over the first twelve days of life in a breastfed infant girl. Upon oral rehydration with formula milk, no acute neurological problems arose, but she subsequently developed necrotizing enterocolitis. Intravenous rehydration may be preferred to the oral route in such infants.
Confusion and paranoia associated with oral tocainide
Authors: Clarke C W F , el-Mahdi E O
Published: December 2008

Two middle aged female patients developed hallucinations and severe confusion with paranoid features during oral tocainide administration at recommended dosage levels. Both patients had evidence of impaired renal function. Symptoms were provoked on re-challenge in the first patient. In the second patient the tocainide blood level was higher than the recommended therapeutic range. Both patients reverted to their normal mental state on withdrawal of the drug.
Ovarian carcinoma presenting as pyrexia of unknown origin
Authors: Schofield P M , Kirsop B A , Reginald P , Harington M
Published: December 2008

A patient with a poorly differentiated clear cell adenocarcinoma of the ovary presenting as pyrexia of unknown origin is reported. Following resection of the tumour, her pyrexia resolved completely.
Cerebrovascular disease in dementia: the importance of atrial fibrillation
Authors: Ratcliffe P J , Wilcock G K
Published: December 2008

The relationship between cardiovascular disease and cerebral infarction was analysed in a prospectively assessed post mortem series of 48 demented patients. Hypertension was rare in this group of patients whose mean age was 82.7 y. Atrial fibrillation was the most important underlying cardiac abnormality. It is suggested that atrial fibrillation is more important than hypertension in the aetiology of cerebral infarction in the very aged and that this may be relevant to the pathogenesis of cerebrovascular dementia.
Thoracic inlet compression due to amiodarone induced goitre
Authors: Samanta A , Jones G R , Burden A C , Barrie W W
Published: December 2008

We report a case of amiodarone induced toxic goitre, presenting with thoracic inlet obstruction which required surgical intervention. Though thyrotoxicosis caused by amiodarone is recognised, to our knowledge thoracic inlet compression has not been previously described.
Fatal splenic rupture in Ehlers-Danlos syndrome
Authors: Harris S C , Slater D N , Austin C A
Published: December 2008

A fatal case of Ehlers-Danlos syndrome (Type IV) is described. Autopsy revealed splenic rupture that had resulted from spontaneous haemorrhage into the splenic parenchyma. This is a previously unrecorded complication of Ehlers-Danlos syndrome and should be considered in the differential diagnosis of chest and abdominal pain in patients with this condition.
Asymptomatic osteomyelitis of the symphysis pubis
Authors: Evans T W , Evely R S , Morcos S K
Published: December 2008

A patient presenting with pyrexia of unknown origin is described. Extensive radiological investigations over a six month period failed to localize an infective focus. Osteomyelitis of the symphysis pubis was found at post mortem. The clinical and radiological implications are discussed.
Cardiac imaging techniques in the diagnosis of angiosarcoma of the heart: report of two cases
Authors: Weyne A E , Heyndrickx G R , Cuvelier C C , Afschrift M B , Kunnen M F , Derom F E
Published: December 2008

Angiosarcoma of the heart is a rare and highly malignant tumour. Most of the reported cases have been diagnosed post mortem. In a one year period two cases were diagnosed during life and surgically treated. The only possible hope for survival is early diagnosis and surgical removal. Our cases illustrate the contribution of cardiac imaging techniques to early diagnosis and the feasibility of radical excision of this tumour.
Stones in the common bile duct: experience with medical dissolution therapy
Authors: Somerville K W , Ellis W R , Whitten B H , Balfour T W , Bell G D
Published: December 2008

Thirty-one patients with radiolucent common bile duct stones received medical treatment. Nineteen had Rowachol, a terpene preparation, eight (42%) achieving complete stone disappearance within 3 to 48 months. Fifteen (including 3 of the above) took Rowachol with bile acid (chenodeoxycholic in 11, ursodeoxycholic in 4) for 3 to 60 months: 11 (73%) achieved complete dissolution within 18 months. Persistent symptoms and complications settled on conservative management: 8 (25%) patients required admission (2 biliary colic, 1 obstructive jaundice, 4 cholangitis, 1 pancreatitis). One patient died of a myocardial infarction during recovery from pancreatitis; the other continued treatment, 2 achieving complete dissolution/disappearance. Oral dissolution therapy with Rowachol and bile acids should be considered when endoscopic sphincterotomy or surgery is not feasible, but careful attention to potential complications is required while stones persist.
Gonadal damage due to radioactive iodine (I131) treatment for thyroid carcinoma
Authors: Ahmed S R , Shalet S M
Published: December 2008

Papillary carcinoma of the thyroid is the most common type of thyroid cancer and is associated with a good prognosis. Complications of treatment with surgery and radioiodine are uncommon. We report the case of a 13 year old boy who developed testicular damage following treatment with radioactive iodine 350 mCi for a papillary carcinoma of the thyroid. Four years after radioiodine treatment there has been no suggestion of recovery of spermatogenesis. Detailed follow-up studies of similarly treated young patients are required to define the incidence of this complication and to determine its reversibility.
Takayasu's disease in Arabs
Authors: Sattar M A , White A G , Eklof B , Fenech F F
Published: December 2008

Four cases of Takayasu's disease in female Arabs are reported. All patients had classical features of the disease. Typing for HLA phenotype showed that all patients had HLA A2, A9, BW35 and DR7 antigens, suggesting an immunogenetic basis for the disease. As far as we know, this is the first report of Takayasu's disease in this ethnic group.
Ventricular tachycardia precipitated by sodium iothalamate (Conray 420) injection during prenylamine treatment: a predictable adverse drug interaction
Authors: Duncan J S , Ramsay L E
Published: December 2008

A case of ventricular tachycardia occurring after intravenous injection of sodium iothalamate (Conray 420) into a patient taking prenylamine is described. Both of these drugs may cause prolongation of the corrected QT interval and the mechanisms of this potentially fatal drug interaction are discussed.
Ventricular arrhythmias complicating weight reduction therapy in a patient with a prolonged QT interval
Authors: O'Keefe J C , Butrous G S , Dymond D S , Littlejohns P , Peters N , Banim S O
Published: December 2008

Serious ventricular arrhythmias are known to occur in patients with long QT intervals. We describe a case of torsade de pointes occurring in a patient with a prolonged QT interval while taking a 1000 calorie diet, diethylpropion hydrochloride (Tenuate Dospan) and bendrofluazide. In patients with long QT intervals, hypokalaemia and drugs which further delay repolarization may facilitate the development of life threatening arrhythmias.
Female type cystic hyperplasia in a male breast
Authors: McClure J , Banerjee S S , Sandilands D G D
Published: December 2008

A 28 year old man had a swelling of the right breast. He was phenotypically and karyotypically a normal male. Microscopic examination of the excised specimen showed the pattern of cystic hyperplasia identical to that commonly seen in the female breast. Numerous cysts were grouped in a lobular pattern and their lining showed apocrine metaplasia. There was extensive background fibrosis, some mammary duct ectasia and some features consistent with the more classical microscopic appearances of gynaecomastia. Whilst some of the features noted above are sometimes seen in gynaecomastia the presence of the full range of the features of cystic hyperplasia is distinctly unusual in the male.
Trigeminal trophic syndrome
Authors: Harper N
Published: December 2008

Two cases of ulceration of the face following surgical sensory denervation are described. Both patients presented to a geriatric unit because of problems associated with mental impairment. There are relatively few reports of similar ulcers. A review of the literature suggests that mental impairment is an important aetiological factor.
Ergotamine abuse and extra-hepatic portal hypertension
Authors: Fisher P E , Silk D B A , Menzies-Gow N , Dingle M
Published: December 2008

Arterial complications following ergotamine therapy have been well recognized since the beginning of this century. Venous complications, however, have only rarely been reported. A 48 year old Nigerian woman developed extra-hepatic portal hypertension coincident with a chronic overdosage of ergotamine. The literature elucidating the possible mechanisms involved is reviewed.
Steroid sensitive systemic disease with anaemia in the elderly: a manifestation of giant cell arteritis?
Authors: Allison M C , Gough K R
Published: December 2008

Nine elderly patients presented with features of a multisystem disorder thought to be either a connective tissue disease of undefined type or disseminated malignancy. Associated features were a normochromic anaemia, raised erythrocyte sedimentation rate (ESR) (or plasma viscosity) and raised serum alkaline phosphatase levels. None had symptoms to suggest either giant cell arteritis or polymyalgia rheumatica. Temporal artery biopsy was performed before trial of corticosteroid therapy in four, and two showed giant cell arteritis. All nine responded dramatically to corticosteroids and the anaemias resolved. One died after 6 y, and the rest are well after 1 to 7 y.
Breast lumps and lymphoma
Authors: Ellis M , Arno J , Owen-Smith M , Sikora K
Published: December 2008

We report two cases of young women in whom a breast lump was the first symptom of disseminated lymphoma. They were managed by wide excision of the affected segments of breast. Histological diagnosis was aided by immunoperoxidase stains for immunoglobulin chains. Further investigations demonstrated the wide spread nature of the disease, with involvement of bone marrow, bone cortex, lymph nodes and lung. Both patients received systemic chemotherapy, which achieved complete remission in one.
Hypogammaglobulinaemia associated with long term, low dose steroid therapy
Authors: Lee R J E , Fay A C
Published: December 2008

Repeated pneumonia and hypogammaglobulinaemia was associated with long term low dose steroid therapy. Clinical improvement with restoration of antibody levels followed substitution of aerosol for oral therapy.
Arthritis as the main or only symptom of hepatitis B infection
Authors: Pease C , Keat A
Published: December 2008

The clinical features of three patients who presented in different ways with inflammatory polyarthritis secondary to acute hepatitis B virus infection are discussed. The importance of early recognition of this condition is stressed.
Carcinoma of the prostate: remission of paraparesis with inhibitors of bone resorption
Authors: Percival R C , Watson M E , Williams J L , Kanis J A
Published: December 2008

We describe a patient with metastatic carcinoma of the prostate associated with paraplegia. The patient also had Paget's disease of bone elsewhere. Because the neurological lesion was thought to be due to Paget's disease, the patient was treated with inhibitors of bone resorption. Treatment rapidly induced clinical remission and inhibition of bone resorption, and withdrawal was associated with relapse. This suggests that such agents may be of value in the treatment of bone disease of prostatic carcinoma.
Serum creatine kinase after intramuscular injections
Authors: Konikoff F , Halevy J , Theodor E
Published: December 2008

Serum creatine kinase (CK) activity was measured after intramuscular injections in 44 patients hospitalized for non-cardiac reasons. The drugs injected were: diazepam, dipyrone, metoclopramide, meperidine, pentazocine and procaine penicillin. Only 3 out of 44 patients (7%) demonstrated significant elevation of CK levels following the intramuscular injections. In these 3 patients the elevation was mainly due to a rise of the MM-isoenzyme fraction with MB levels increased in one patient.

These findings do not justify the common clinical notion of regarding intramuscular injections as a frequent cause of serum CK elevation. It is concluded that high CK serum values in a patient with chest pain should always be considered with utmost suspicion, disregarding the possible effects of a previous intramuscular injection.
Disordered oesophageal motility in thyrotoxic myopathy
Authors: Sweatman M C M , Chambers L
Published: December 2008

Dysphagia is an uncommon feature of thyrotoxic myopathy, and is usually associated with other signs of bulbar weakness, such as dysarthria and nasal regurgitation. We report a case of thyrotoxicosis presenting with dysphagia due to diminished oesophageal motility associated with significant hypercalcaemia; both abnormalities resolved rapidly following treatment.
Myxoedema followed by TSAb-induced hyperthyroidism: report of 2 cases
Authors: Steel N R , Bingle J P , Ramsay I D , Kendall-Taylor P
Published: December 2008

The development of spontaneous hyperthyroidism following primary hypothyroidism is an unusual occurrence. We report two cases of confirmed primary hypothyroidism who subsequently became hyperthyroid. Thyroid stimulating antibodies were present in the sera of both patients during the hyperthyroid state. The significance of this sequence of events is discussed and a possible explanation proposed.
Bilateral primary malignant lymphoma of the breast
Authors: Shpitz B , Witz M , Kaufman Z , Griffel B , Manor Y , Dinbar A
Published: December 2008

A rare case of bilateral primary malignant lymphoma of breast in a 76 year old woman is presented. The lesion was examined by electron microscopy and immunochemistry. The diagnosis of primary malignant lymphoma remains a diagnosis by exclusion and requires extensive work-up to exclude widespread malignant process. The behaviour of this malignancy tends to be an aggressive one and the prognosis is generally poor.
Mediastinal zygomycosis
Authors: Marwaha R K , Banerjee A K , Thapa B R , Agrawal S M
Published: December 2008

A young girl with pulmonary zygomycosis involving the mediastinum and presenting as superior vena caval obstruction is reported. Mediastinal involvement due to zygomycosis is a rare occurrence.
Glucagonoma without cutaneous manifestations
Authors: Parr J H , Ramsay I D , Keeling P W N , Thompson R P H , Mallinson C N
Published: December 2008

A 63 year old man presented with features of the glucagonoma syndrome, that is thromboembolic disease, weight loss, raised sedimentation rate, diabetes mellitus, hypoproteinaemia and reduced plasma amino acid levels, but without necrolytic migratory erythema. The plasma glucagon level was raised and the tumour was demonstrated by abdominal CT scan. Immunofluorescent studies of the resected tumour confirmed the diagnosis. The normal tissue zinc status supports the view that necrolytic migratory erythema is related to zinc deficiency.
Spontaneous pneumomediastinum: a complication of anorexia nervosa?
Authors: Fergusson R J , Shaw T R D , Turnbull C M
Published: December 2008

We describe a patient with anorexia nervosa who developed a spontaneous pneumomediastinum. Five other patients have been reported with this association, suggesting that tissue changes in anorexia nervosa may predispose to this condition.
Autoerythrocyte sensitization (Gardner-Diamond syndrome) in men: a case report and review of the literature
Authors: Ingber A , Alcalay J , Feuerman E J
Published: December 2008

Autoerythrocyte sensitization (AES) is a rare syndrome particularly among males. A young male with typical AES is herewith described. We review all seven published cases of AES in men for which details are available and compare the age of onset, somatic manifestations, associated diseases and psychiatric disturbances between the sexes. We emphasize that the criteria essential for a diagnosis of AES should include typical clinical presentation, longstanding clinical history and a positive skin test with the patient's blood. Because of the rarity of AES there is a lack of awareness regarding it among many doctors.
Perforated duodenal diverticulum: a report of two cases
Authors: Stebbings W S L , Thomson J P S
Published: December 2008

Perforation is a rare complication of congenital duodenal diverticula. The case histories of 2 patients are reported. Operative treatment to excise the diverticulum and close the defect in the duodenum and to drain associated sepsis is required.
Idiopathic sclerosing peritonitis
Authors: Dehn T C B , Lucas M G L , Wood R F M
Published: December 2008

A girl of 12 years old presented with acute small bowel obstruction nine weeks after an uncomplicated appendicectomy. The obstruction was found to be due to the development of sclerosing peritonitis. Previous reports of this rare condition have suggested that it is predominantly found in adolescent girls residing in subtropical climates.
Splenic flexure volvulus
Authors: Naraynsingh V , Raju G C
Published: December 2008

Splenic flexure volvulus is rare, only 22 cases having been reported. Though these usually present with chronic intermittent clinical features we recently encountered a case presenting as acute intestinal obstruction which, on plain abdominal X-rays, had classical features of this condition.
Haematuria in patients with bleeding disorders
Authors: Ramayya G R , Hemingway D , Desmond A D
Published: December 2008

Patients with bleeding disorders or who are anticoagulated may present with haematuria. Failure to investigate such patients when they first present may delay the diagnosis and treatment of a serious genito-urinary pathology.
Gentamicin serum half-life: a comparison between pregnant and non-pregnant women
Authors: Lazebnik N , Noy S , Lazebnik R , Hezroni Y , Amoday I , Aviram A
Published: December 2008

The serum half-life of gentamicin following an intravenous dose was compared between 19 pregnant women (28-34 weeks of pregnancy) with premature rupture of the membranes and 17 non-pregnant women with pelvic inflammatory disease, the groups being age and weight matched. A significant reduction of gentamicin half-life was found in the pregnant group.
Spinal subarachnoid haemorrhage presenting as spinal block without meningism
Authors: Duncombe A S , Kennedy P G E
Published: December 2008

A case of spinal subarachnoid haemorrhage with progressive spinal cord compression and without any evidence of meningism is described. Spinal block was demonstrated by myelography and computerized tomography and surgical decompression of the subarachnoid blood clot resulted in almost complete recovery. A diagnosis of spinal subarachnoid haemorrhage should be considered in any patient who presents with acute back pain and slowly or rapidly progressive neurological signs in the limbs, even when meningism is absent.
Cardiac arrhythmia and myocardial ischaemia related to cocaine and alcohol consumption
Authors: Boag F , Havard C W H
Published: December 2008

Following the drinking of 150 g of alcohol and a large amount of intra-nasal cocaine a previously healthy 31 year old man developed severe retrosternal pain and circulatory failure. An electrocardiogram showed supra-ventricular tachycardia with widespread ischaemic changes. Following electrical cardioversion electrocardiographic evidence of myocardial ischaemia persisted for 1 h. Two days later basal and exercise electrocardiograms were normal. The combination of alcohol and cocaine may be life threatening.
Recurrent idiopathic pneumomediastinum
Authors: Channer K S , Roberts C J C , Jeyasingham K
Published: December 2008

A case is described of the rare syndrome of recurrent idiopathic pneumomediastinum which had been mistakenly diagnosed as recurrent spontaneous perforation of the oesophagus. The case illustrates the importance of distinguishing between pneumomediastinum and oesophageal rupture because of their markedly differing prognosis and management.
Acute renal failure in association with cosmetic suction lipectomy
Authors: Rose G E
Published: December 2008

A case of severe non-oliguric acute renal failure following cosmetic suction lipectomy in a 33 year old woman is described. The renal failure, although requiring emergency treatment, resolved spontaneously with only negligible residual impairment of renal function. An aetiology involving rhabdomyolysis and myoglobinuria is proposed and other mechanisms are discussed.
Clinical significance of myocardial echo intensity in hypertrophic cardiomyopathy and other forms of left ventricular hypertrophy
Authors: Gibson D G
Published: December 2008

An approach by quantifying the echoes arising from hypertrophied myocardium, is described in patients with left ventricular hypertrophy of various causes, including hypertrophic cardiomyopathy. Amplitude of echoes judged by pixel count was significantly increased in patients with hypertrophic cardiomyopathy, hypertension and aortic stenosis as compared with normals and athletes with a comparable increase in left ventricular mass.

It is suggested that the increase in echo intensity reflects an increase in myocardial collagen content.
Calcium blockade - nifedipine in the treatment of hypertrophic cardiomyopathy
Authors: Lorell Beverly H , Grossman William , Paulus Walter J , Craig William E , Murgo Joseph P
Published: December 2008

The acute effects of the calcium channel blocking agent nifedipine in hypertrophic cardiomyopathy are described. Improved diastolic function was suggested by the increase in the rate of filling of the left ventricle and the fall in left ventricular end-diastolic pressure. Left ventricular relaxation time was shortened. There was a downward shift in the left ventricular pressure-echo dimension relationship, suggesting increased left ventricular distensibility. Nifedipine caused a fall in systolic, systemic blood pressure and an increase in heart rate, but no change in the cardiac index.

The reasons for the improvement in the diastolic function were thought to be systemic vasodilatation and change in left ventricular loading conditions, coronary vasodilatation with reduction of subendocardial left ventricular ischaemia and a direct myocardial effect and modification of myocardial calcium availability.
Subacute thyroiditis associated with Chlamydia Psittaci infection
Authors: Schofield P M , Keal E E
Published: December 2008

A patient presenting with subacute thyroiditis who had evidence of chlamydial infection is reported.
Bisalbuminaemia in pancreatic ascites
Authors: Keidar S , Hornstein L , Brook J G
Published: December 2008

A patient with pancreatic ascites is described. Electrophoresis of the patient's serum demonstrated bisalbuminaemia, which disappeared after resolution of the ascites.
Dysarthria and visual hallucinations due to flecainide toxicity
Authors: Ramhamadany E , Mackenzie S , Ramsdale D R
Published: December 2008

A 65 year old man with recurrent ventricular tachyarrhythmias post myocardial infarction developed dysarthria and visual hallucinations due to flecainide toxicity. A readily available assay is required for estimating serum flecainide levels in patients with diminished renal or hepatic function or failed arrhythmia suppression.
Teratogenic inborn errors of metabolism
Authors: Leonard J V
Published: December 2008

Most children with inborn errors of metabolism are born healthy without malformations as the fetus is protected by the metabolic activity of the placenta. However, certain inborn errors of the fetus have teratogenic effects although the mechanisms responsible for the malformations are not generally understood. Inborn errors in the mother may also be teratogenic. The adverse effects of these may be reduced by improved metabolic control of the biochemical disorder.
Recently recognized chromosomal defects of clinical importance
Authors: Pembrey M , Baraitser M
Published: December 2008

We review those conditions which have recently been recognized to be associated with small, sometimes difficult to detect, chromosomal abnormalities. These include the Prader-Willi syndrome and X-linked mental retardation.
Detection of hepatic encephalopathy
Authors: Gazzard B G , Price H , Dawson A M
Published: December 2008

The most sensitive index of hepatic encephalopathy in 29 patients following a porta-caval shunt appeared to be the assessment of a close relative who had known the patient pre-operatively. They noticed that 19 of the 20 patients were mentally slower; 11 were markedly aggressive and 8 had become placid and uncaring about family problems. Only 9 of these patients had clinical encephalopathy as judged by two independent observers, 14 had a prolonged trail test and 8 produced an abnormal five-pointed star.

Eight patients were forced to retire prematurely after the operation due to ill health and 20 felt that their marriage had deteriorated.

Eighteen of the 29 patients had a lie score on the Eysenck personality questionnaire (an index of ‘social naïvety’) which was more than one standard deviation above the mean value for a large control group (P < 0.01). This did not correlate with other measurements of encephalopathy, but 8 out of the 11 patients who exhibited aggressive behaviour had an abnormal score.
Radiological appearances of hydatid disease in Wales
Authors: Clements R , Gravelle I H
Published: December 2008

Thirty six patients with hydatid disease have been investigated in the Radiology Departments of Cardiff hospitals between June 1973 and June 1984; thirty two of these patients are likely to have acquired the disease in Wales. There were 16 hepatic cysts, 3 renal cysts, 2 cerebral cysts, 15 pulmonary cysts, 1 pleural cyst, 1 recurrent spinal cyst, and 1 cyst of the broad ligament. The radiological features are discussed. These patients emphasize the higher incidence of hydatid disease in Wales, compared with other regions of the United Kingdom, and the need to consider this diagnosis in Welsh patients from rural areas, who have large pulmonary opacities, or hepatic, renal, or cerebral cystic abnormalities.
Renal hypouricaemia in a patient with 48, XXYY syndrome
Authors: Nakajima H , Tajima K , Nakajima T , Iida S , Sumi S , Kono N , Moriwaki K , Nonaka K , Tarui S
Published: December 2008

Studies on hypouricaemia observed in a patient with 48, XXYY syndrome revealed an abnormality in renal urate handling. His renal urate clearance was abnormally increased. Inosine administration and provocative tests using probenecid and pyrazinamide identified an isolated renal tubular abnormality with increased urate secretion. Since the serum urate in his brother with a normal sex chromosome constitution was also low, the association of renal hypouricaemia and 48, XXYY syndrome in this patient is probably coincidental. Although the brother was not investigated, these siblings may be a previously unreported case of familial hypouricaemia due to isolated renal hypersecretion.
Parkinsonism induced by a monoamine oxidase inhibitor
Authors: Gillman M A , Sandyk R
Published: December 2008

A parkinsonian syndrome developed 5 weeks after administration of phenelzine in a 42 year old woman with major depressive illness. Discontinuation of this agent resulted in gradual disappearance of the extrapyramidal syndrome. Possible underlying mechanisms for this unusual case are discussed.
Management of ventricular arrhythmias associated with mitral valve prolapse by combined alpha and beta blockade
Authors: Butrous G S , Maltz M B , O'Keefe J , Banim S O , Camm A J
Published: December 2008

Ventricular arrhythmias are common in patients with mitral valve prolapse. Ten patients with echocardiographically confirmed mitral valve prolapse and documented ventricular arrhythmias were included in this study. The aim was to assess the value of combined alpha- and beta-blockade (labetalol) compared with beta-blockade alone (propranolol) in the management of ventricular arrhythmias in these patients. The study was performed using physiological stress, such as the Valsalva manoeuvre, isometric exercise and treadmill exercise, to initiate ventricular arrhythmias before and after intravenous propranolol or labetalol and to document arrhythmias during 24 hour electrocardiography before and after oral medication. Labetalol and propranolol decreased the heart rate and blood pressure response to these manoeuvres to a similar extent but labetalol was more effective in the control of the ventricular arrhythmias. These findings suggest that alpha adrenergic receptors may play a role in the pathogenesis of the ventricular arrhythmias in mitral valve prolapse syndrome and that labetalol offers an alternative treatment for the management of this condition.
General practice and teaching hospital use of barium meal examinations in the City and Hackney Health District
Authors: Conry B G , McLean A M , Farthing M J G
Published: December 2008

The value of barium meal examination in the management of younger patients with dyspepsia has been seriously questioned as diagnostic yield is reported to be low with only minor abnormalities detected. Our 9 month survey of general practice and hospital out-patient use of barium meal examination in the City and Hackney Health District during 1983–84 shows that 51% of patients investigated were < 50 years and 20% < 30 years of age, suggesting that clinicians have not heeded these warnings. However, 30% of the younger patients had barium meal mucosal abnormalities. Over all age groups abnormalities were more prevalent in men and in general practice rather than hospital out-patient referrals (59% vs 45%; P < 0.02). Previous studies may therefore have underestimated the prevalence of barium meal abnormalities in younger patients, and continued use of this examination in such patients may indicate that clinicians have found the results helpful in patient management.
Acute polyradiculoneuropathy complicating systemic lupus erythematosus
Authors: Morgan S H , Kennett R P , Dudley C , Mackworth-Young C , Hull R , Hughes G R V
Published: December 2008

Two elderly patients with systemic lupus erythematosus (SLE) are presented. Both developed an acute polyradiculoneuropathy which is an unusual complication of this disease. Features of their presentation are discussed.
Lactic acidosis and small cell carcinoma of the lung
Authors: Sheriff D S
Published: December 2008

Two patients with small cell carcinoma of the lung who presented with lactic acidosis are described. Hepatocellular failure due to extensive metastases may be the cause of acute lactic acidosis.
Fifteen year survival of patients presenting with hypertension to a hospital clinic
Authors: Bulpitt C J , Bulpitt P F , Daymond M , Hartley K , Dollery C T
Published: December 2008

The survival has been determined for the 404 patients who presented to the Hammersmith Hospital Hypertension Clinic during the years 1962 to 1966 and in whom the untreated blood pressure was known. The fifteen year survival ranged from 72% for young men aged 30–49 at presentation to 27% for men aged 60–69. Sixty-eight percent of the deaths were cardiovascular or renal, 33% of all deaths were from ischaemic heart disease (IHD), 17% from stroke and 3% from renal causes. Death from any cause was predicted with statistical significance by age, the presence of accelerated or malignant hypertension, impaired renal function, smoking at presentation and systolic blood pressure. Death was not predicted by hypokalaemia, hyperuricaemia (after adjusting for renal function) and obesity.
Low dose maintenance treatment with cimetidine in duodenal ulcer: intermediate-term results
Authors: Bardhan K D , Hinchliffe R F C , Bose K
Published: December 2008

Ulcer relapse rates during up to 2 years of prophylactic low-dose maintenance therapy (LDMT) with cimetidine 400 mg at bedtime was examined in 261 patients. Endoscopy was repeated every 6 months if asymptomatic, or whenever symptoms recurred. Relapse was defined as the recurrence of an ulcer crater or erosions or both.

In patients with non-refractory duodenal ulcer (those healed within 3 months) who comprise the majority, their likelihood of relapse at 6, 12, 18 and 24 months was: symptomatic 8%, 13%, 18%, 20%; silent 14%, 28%, 38%, 43%, respectively. In contrast, in patients with refractory ulcer, their symptomatic relapse rates were 36%, 45%, 46%, 48%, and silent 28%, 38%, 46%, 48% respectively. The outcome of a second course of LDMT was similar to the first. Narrowing the definition of relapse to exclude recurrence of erosions alone but without an ulcer decreased asymptomatic relapse in non-refractory ulcer patients by about half. No patient had any major side effects.

Thus, LDMT is a safe and effective way of keeping most patients with duodenal ulcer symptom free over 2 years.
Volvulus of the stomach—an unusual cause of pulsus paradoxus
Authors: Hooper T L , Lawson R A M
Published: December 2008

A patient with a strangulated diaphragmatic hernia presented as an emergency and was noted to have pulsus paradoxus. The mechanism of this physical sign, previously unrecorded in association with an intrathoracic hernia, is discussed.
Impaired thyrotrophin secretion following the administration of thyrotrophin-releasing hormone in type II diabetes mellitus
Authors: Small M , Cohen H N , MacLean J A , Beastall G H , MacCuish A C
Published: December 2008

Serum thyrotrophin has been measured before and after the intravenous administration of 200 micrograms of thyrotrophin-releasing hormone in 91 white subjects (33 stable diabetic patients and 58 healthy controls), none of whom had any clinical evidence of thyroid or pituitary dysfunction. Seven of the diabetic subjects failed to achieve a rise of serum thyrotrophin of > 2 mU/l above basal concentrations, as compared with only one of the control subjects (P = 0.006). The difference in response between diabetics and controls was confined to patients with Type II (non-insulin-dependent) diabetes: thus 5 of 13 Type II patients and 2 of 20 Type I (insulin-dependent) patients failed to show a normal response to thyrotrophin releasing hormone injection. No significant effect of glycaemic control on thyrotrophin responses was noted.

These results suggest that Type II diabetes mellitus may be a cause of impaired thyrotrophin secretion in patients with no clinical evidence of pituitary disease. The mechanism for this impaired pituitary hormone release remains to be clarified.
Autoimmune thyroid disease with ulcerative colitis
Authors: Modebe O
Published: December 2008

Two cases of co-existing thyroid disease and ulcerative colitis are reported. Thyroid disorder preceded ulcerative colitis in each case. The presence of acute colitis delayed and obscured the clinical diagnosis of thyrotoxicosis in one case and the colitis could not be controlled until her thyrotoxicosis was treated. Although the specific factors involved in this relationship are now known, an interplay of immunological factors is most probable.
Evolution of hypothyroidism in familial goitre due to deiodinase deficiency: report of a family and review of the literature
Authors: Hirsch H J , Shilo S , Spitz I M
Published: December 2008

We studied two sisters who developed large non-toxic goitres in adolescence. Deiodinase deficiency was diagnosed by a rapid thyroid uptake of radioactive iodine (RAI) at 2 hours associated with a marked fall in thyroidal 131I by 24 hours. Serial RAI scans in the second patient documented evolution of the iodine-deficient state. Conservation of intra-thyroidal iodine stores was maintained by avid iodine uptake and failure to release organified 131I. With progressive loss of inorganic iodine, hypothyroidism developed, associated with a rise in serum TSH which further exacerbated the loss of iodine. Treatment with l-thyroxine resulted in an improvement of thyroid function, but normalization was achieved only after small doses of Lugol's iodine were administered.

These studies illustrate the variable nature and late onset of an inborn error of thyroid metabolism. This family supports an autosomal recessive mode of inheritance for deiodinase deficiency. We have documented progression from a euthyroid to hypothyroid state resulting from decompensation of iodine conservation mechanisms.
Obstruction is unimportant in the pathophysiology of hypertrophic cardiomyopathy
Authors: Criley J M , Siegel R J
Published: December 2008

There has been a longstanding controversy about the significance of intracavitary pressure gradients in hypertrophic cardiomyopathy (HCM). It has been generally assumed that the gradient is the result of an ‘obstruction’ that impedes left ventricular outflow and which can be relieved by operative intervention. In the first decade after the discovery of HCM (1957–66), the site of ‘obstruction’ was thought to be a muscular sphincter or contraction ring in the submitral region of the left ventricle, and operations designed to emulate pyloromyectomy (for hypertrophic pyloric stenosis) were developed. Following a challenge to the existence of the ‘contraction ring’ and an alternative non-obstructive explanation of the pressure gradient, the site of ‘obstruction’ was translocated to a point of apposition between the anterior mitral leaflet and the interventricular septum, a result of systolic anterior motion (SAM) of the mitral valve. Despite the translocation of the site and mechanism of ‘obstruction’, the operation for ‘relief of obstruction’ has not changed significantly. The newer site of ‘obstruction’ has been challenged on the grounds that the ventricle is not demonstrably impeded in its emptying; when a gradient is provoked, the ventricle empties more rapidly and more completely than it does without a gradient. In addition to a non-obstructive explanation of the gradient, other phenomena thought to be indicative of ‘obstruction’ can be explained by rapid and complete emptying of the ventricle (cavitary obliteration). Since the morbidity and mortality of symptomatic HCM patients without pressure gradients may exceed that of patients with pressure gradients, it is suggested that ‘obstruction’ may be unimportant in the pathophysiology of HCM and attention should be focused on abnormal diastolic function and life threatening arrhythmias.
The morphological progression of viral myocarditis
Authors: Billingham M E , Tazelaar H D
Published: December 2008

In an attempt to document the morphological progression from acute idiopathic myocarditis to end-stage dilated cardiomyopathy we studied 20 patients with a diagnosis of myocarditis who had had serial endomyocardial biopsies performed with intervals of 1 month to 2 years and whose ages varied from 6 months to 62 years. Fifteen of these patients were treated with immunosuppressive drugs for myocarditis. Ten out of 15 treated patients stabilized clinically. In the remaining 5 cases there was worsening congestive heart failure and 1 patient underwent cardiac transplantation. Of the 5 patients who did not receive immunosuppression, 2 stabilized spontaneously, and 3 developed heart failure, 2 of whom subsequently had cardiac transplants. Whether the patients received immunosuppression or not, in all cases, the inflammatory infiltrate was less but the myocardium developed significant hypertrophy with an increase in interstitial fibrosis and in 8 cases the morphological changes were those of dilated cardiomyopathy.

From the morphological standpoint of this study we have shown some evidence that dilated cardiomyopathy can be the end result of acute myocarditis. It appears that not every case of acute myocarditis progresses to dilated cardiomyopathy and that steroid treatment does not necessarily prevent progression of myocarditis to dilated cardiomyopathy.
Severe renal sepsis in the very elderly
Authors: Milnes J P , Swain D G
Published: December 2008

We describe three cases of severe renal sepsis in the very elderly and discuss the diagnostic pitfalls.
Nocardia asteroides osteomyelitis
Authors: De Luca J , Walsh B , Robbins W , Visconti E B
Published: December 2008

Nocardia asteroides osteomyelitis has previously been described only in acutely ill patients. It may occur as an isolated event or part of the disease spectrum of disseminated nocardiosis.

An 84 year old immune competent man with N. asteroides right tibial osteomyelitis had an unusual presentation, presumed mechanism of disease and outcome. His course affords an opportunity to review the literature on N. asteroides osteomyelitis and to discuss the unique features of his case.
Meningitis caused by Streptococcus suis type II
Authors: McNeil N I , Gordon T
Published: December 2008

A 49 year old head porter developed meningitis shown to be caused by Streptococcus suis type II. The rare human infections with the organism, a pathogen of pigs, usually occur in those employed handling pig meat and are associated with auditory or vestibular dysfunction.
Transitional cell carcinoma in an ileal conduit
Authors: Curran F T , Fuggle W J
Published: December 2008

Following cystectomy for transitional cell carcinoma a 63 year old woman developed recurrent tumours in the upper urinary tract and ileal conduit, suggesting that malignant transitional cells can auto-implant in ileal epithelium. This phenomenon has not been previously reported. We illustrate the value of retrograde urogram via an ileal conduit following cystectomy for cancer.
Can and should type A behaviour be changed?
Authors: Johnston D W
Published: December 2008

Both Type A behaviour and the component of hostility can be reduced by a number of different psychological interventions and such reductions are associated with reduced cardiac morbidity in patients with coronary heart disease. Reductions in Type A behaviour are not associated with significant changes in other risk factors nor with unwanted side effects such as reduced professional effectiveness.
Extracorporeal membrane oxygenation as emergency treatment for life-threatening acute severe asthma
Authors: King D , Smales C , Arnold A G , Jones O G
Published: December 2008

We report a case of acute severe asthma that was resistant to full medical treatment, mechanical ventilation and halothane inhalation. Because a fatal outcome appeared likely extracorporeal membrane oxygenation, involving partial cardiac bypass, using femoral artery and femoral vein cannulation was instituted as an urgent measure. The patient then made a satisfactory recovery.
Spontaneous spinal epidural haematoma with spontaneous resolution
Authors: Brawn L A , Bergval U E G , Davies-Jones G A B
Published: December 2008

Spontaneous spinal epidural haematoma is of unknown aetiology, but it has been associated with hypertension. Treatment is surgical decompression but three cases of spontaneous recovery have been reported. We report the fourth such recovery in a 68 year old hypertensive woman.