Wilson's disease: early diagnostic value of serum ceruloplasmin level to prevent chronic psychosis - case report

Wilson disease is a rare autosomal recessive hereditary disorder of copper metabolism. It is characterized by excessive deposition of copper in the liver, brain, and other tissues due to mutation in the Wilson disease protein [ATP7B] gene which leads to impaired copper metabolism. We report a case of eighteen-year-old male patient, who presented at the Out-Patient Department of Medicine Unit 1, Abbasi Shaheed Hospital. He presented with history of ataxia for 2 years along with abnormal spastic hand movements and difficulty in speech for the same time period. These symptoms remained static till 12 months but later progressed with multiple episodes of fall after which he was bedridden. On further investigation, eye examination on slit lamp showed Kayser-Fleischer ring, low total leukocyte count and ceruloplasmin level of 0.03 g/L. Ultrasound results showed hyperechoic hepatic parenchyma with no mass or abscess. This case is notable to emphasize the diagnostic value of ceruloplasmin for early diagnosis and to prevent chronic psychosis along with neurological symptoms. We aim to review the clinical presentation, diagnostic modalities and current treatment and also to highlight the treatment trials underway for Wilsons disease in adult patients

Integrated care of modifiable risk factors in patients with ischemic stroke can improve the reproductivity of state

To identify modifiable risk factors in patient with ischemic stroke in tertiary care hospital of Karachi. Cross sectional study. This study was conducted in Medical Unit-I, II, III, Abbasi Shaheed Hospital Karachi from 21[st] September 2006 - 21[st] March 2007. All patients admitted during six months period, who met the inclusion criteria of recent ischemic stroke, were analyzed according to questionnaire for six selected variable i.e hypertension, diabetes mellitus, cigarette smoking, obesity, hyperlipidemia and cardiac disorder. Average age of patient was 65. 57 years. Hypertension involved in 76.6%, diabetes mellitus 53%, cigarette smoking in 31.7%, 13.3% patients were obese , hyperlipimedia found in 48.3% patients and cardiac disorder in 5%patients. Combination of hypertension and smoking was found in 38.46%, combination of hypertension, diabetes and hyperlipidemia in 44.23% and combination of diabetes, obesity and hyperlipidemia in 17.31% patients. Among the six risk factors analyzed, data revealed a significant effect of hypertension. Other contributing risk factors in order of frequency were diabetes, hyperlipidemia, smoking, obesity and cardiac disorders. Combinations of risk factors i.e hypertension and smoking, or combination of hypertension, diabetes and hyperlipidemia, or combination of diabetes, obesity and hyperlipidemia were the commonly occurring comorbidities in patients presented with ischemic stroke

Common carotid artery intima-media thickness in patients with ischaemic and haemorrhagic stroke

An increase in the intima-media thickness of the common carotid after [CCA-IMT] is generally considered as an early marker of atherosclerosis and has been associated with a higher risk of stroke and myocardial infarction. Cross-sectional Study. This study was conducted in Department of Medicine at Karachi Medical and Dental College and Abbasi Shaheed Hospital from June 2011 to December 2011. We determined cross-sectionally the diagnostic ability of CCA-IMT to distinguish between brain infarction and intracerebral haemorrhage. Total 150 patients aged >40 years of both sexes with hemorrhagic and ischaemic stroke were included, while patients with history of endartectomy, head injury, space occupying lesion and on anticoagulation were excluded. All information was recorded on proforma. Thickness of common carotid artery of >/= 0.5 mm was considered significant. Analysis was performed through SPSS-10.0. Frequencies and percentages were computed to present categorical variables including stroke type and wall thickness of common carotid artery in terms of [ 0.5 mm]. Chi-square test was applied to see association of increased CCA-IMT with stroke type. Statistical significance was taken at p < 0.05. Among 150 patients of stroke, 13 [8.7%] patients of left and 8 [5.3%] patients of right had increased CCA-IMT. The CCA-IMT was significantly higher in patients with ischemic stroke patients [p=0.001]. The present results demonstrate the possible predictive power of non-invasive measure meant of CCA-IMT with respect to brain infarction versus intracerebral hemorrhage and deserve further investigation. Despite high prevalence of hypertension in patients with haemorrhagic stroke, increased CCA-IMT which is considered as an early marker of atherosclerosis is strongly related to ischaemic stroke than haemorrhagic stroke

Insulin resistance and inflammatory markers in obesity

To estimate the insulin resistance and its correlation to gender and inflammatory cytokines IL6 and TNFalpha in obese Pakistani patients. In one fifty obese patients of both sex, weight, height and Waist circumference was noted and BMI was calculated. Fasting blood was drawn to check for blood sugar and insulin levels. IL6 and TNFalpha were checked via ELISA. Insulin resistance was calculated by HOMA IR. Mean BMI in males was 29.566 +/- 4.4322 kg/m2and 33.96 +/- 5.5609 kg/m2 in females. Sixty one [40.7%] had normal insulin resistance [1.704 +/- 0.647] and 89 [59.3%] had increased insulin resistance [9.678 +/- 10.143]. Mean TNFalpha and Mean IL6 were not statistically different in both the groups [p value 0.891 and 0.386 respectively]. Mean HOMA IR was 5.649 +/- 6.03 in males and 6.8005 +/- 9.76 in females. Mean IL6 was 46.166 +/- 117.67pg/ml and mean TNF was 22.492 +/- 89.99pg/ ml. IL6 and TNF was more in males as compared to females [p-value 0.001]. TNFalpha and IL6 significantly correlated to each other [p value 0.001]. Insulin resistance was increased in sixty percent of obese subjects but showed no difference in mean inflammatory cytokine levels from those with normal HOMA IR. TNF and IL6 levels were more in males. These markers significantly correlated to each other but not to obesity parameters

Hyperamylasemia and acute pancreatitis following organophosphate poisoning

To determine the frequency of hyperamylasemia and acute pancreatitis following organophosphate poisoning. This is a descriptive study conducted at the Medicine Department, Abbasi Shaheed Hospital Karachi during the period of six months from 16th June 2006 to December 2006. All patients of both sexes and ages above 15 years admitted with a positive history of organophosphate poisoning [OP] were included in the study. A special Proforma was designed to enter all the collected data containing the basic information about the patient, history of recent event and the past history, physical examination and the relevant investigations like complete blood count, serum amylase and lipase, alanine aminotransferase [ALT], lactate dehydrogenase [LDH] and ultrasound abdomen. Among 90 patients, hyperamylasemia was found in 28 [31%] patients. Hyperlipasemia was seen in nine [10%] patients and pancreatitis was seen in two [2.2%] patients. Hyperamylasemia is more frequently seen in organophosphate poisoning while two patients proved to have acute pancreatitis as a complication

Recurrent ethmoidal polypi; a prospective study

OBJECTIVE: To evaluate the various aspects of recurrent ethmoidal polypi and to ascertain the treatment modality for them with the least recurrence. DATA SOURCE AND PERIOD: The study is conducted in 110 patients over two years period [Feb 1995 to Jan 1997], presented in the OPD of the Holy Family Hospital Rawalpindi with Recurrent Ethmoidal Polypi. METHODS: A performa was allocated to every patient to record, present and past history of the disease. H/O allergy, upper respiratory tract infections and family history. Previous treatment modalities either medical or surgical and number of recurrences were noted. Through ENT examination and relevant investigations were carried out. There is predominance of male [68%], adult patients [70%]. Most of the patients presented in winter season, with nasal obstruction 87%, Rhinorrhoea 81%, PND 49%, Sneezing 43% and Headache 42% etc. Previously the patients had conservative treatment 25% and simple polypectomies 64%. Recurrence was treated with medical treatment [anti histamines and topical steroids etc], with about 52.7% success. Repeated polypectomy followed by topical steroids is 60% successful 4 patients required external ethmoidectomy followed by antihistamines with 100% results. in most of the patients recurrence of polypi can be treated by medicinal and meticulously performed simple polypectomy followed by antihistamines and or local steroids. About 5 to 10% patients require extensive surgical operations. External ethmoidectomy is the final court of appeal with 100% results

Haemorrhagic stroke-incidence, risk factors and mortality

Cases of haemorrhagic stroke admitted to the Medical Unit V of Civil Hospital, Karachi from January 1992 to December 1993 were studied to determine the incidence, risk factors, site and size of haemorrhage and mortality. Out of 2073 patients admitted during the study period, those with stroke were 169 [8.15%]. Of these, 52 patients had haemorrhagic stroke thus accounting for 30.77% of stroke patients and 2.51% of all admissions. There were 34 [65.38%] male and 18 [34.62%] female patients. Forty [76.92%] of the 52 patients were above the age of 40 years. Hypertension was found in 32 [61.54%] patients. Site of haemorrhage was ganglionic in 18 [34.61%], thalamic in 9 [17.31%], subcortical lobar in 17 [32.69%], pontine in 3 [5.77%] and cerebellar in 2 [3.85%] patients while 3 [5.77%] patients had sub-arachnoid haemorrhage. The size of haemorrhage was >4cm in 4 patients, 3-4cm in 9 patients, 2.5-3cm in 8 patients and <2.5cm in 28 patients. Twenty nine patients died during hospitalization giving a case fatality rate of 55.77%