Van der knaap disease

Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts [MLC] is a rare, inherited, autosomal recessive disorder. It is characterised by macrocephaly and slowly progressive ataxia, spasticity, and cognitive decline. The usual age of onset is described from birth to infancy. MLC predominantly occurs in some ethnicities where consanguinity is common. This disease is caused by mutations in the gene, which encodes a novel protein, MLC1. The characteristic MRI findings include leukodystrophy and subcortical cysts that yield diagnostic clue in most of the cases. The diagnosis can be established prenatally and genetic counseling is usually offered for future pregnancies. Herein, we chronicle a case of Van der Knaap disease from Pakistan with the classical MRI features

syndrome of diabetic amyotrophy: a preventable disaster?

Diabetic amyotrophy is a disabling syndrome that frequently has a difficult or delayed clinical recognition. It is characterised by lancinating pain followed by muscle weakness, usually in the hip and thigh. The disease predominantly occurs in elderly patients and causes significant morbidity. Although a detailed history and neurologic examinations are helpful, electrodiagnostic testing yields accurate diagnosis in most of the cases. Herein, we chronicle the case of a young patient who developed profound diabetic amyotrophy within five years after the onset of type 1 diabetes mellitus. Furthermore, this report highlights the preventive as well as therapeutic role of strict glycemic control, warranting population-based monitoring and education of patients for diabetic amyotrophy, especially in Pakistan

Biochemical changes in subjects with fatty liver: Is there a link?

Objective:To evaluate the biochemical markers including serum triglycerides, ALT, and fasting plasma glucose in detection of fatty liver disease

Methodology:This cross-sectional analysis was carried out at the department of radiology and pathology, PNS Rahat hospital,Karachi between March-2010 to February-2011.Sixty-two subjects with an ultrasonographic diagnosis of fatty liver were compared with thirty-seven subjects with normal ultrasound for fatty liver, after excluding all other abnormalities on history and examination. The comparison included measurement of biochemical abnormalities including fasting blood glucose, triglycerides, total cholesterol and alanine transaminase [ALT]

Results:The results of fasting blood glucose[[Fatty liver group=7.06 +/- 3.51mmol/L][Without fatty liver disease=5.12 +/- 0.56 mmol/L] [p = 0.002]], serum triglycerides [[Fatty liver group=2.56 +/- 1.33 mmol/L ] [Without fatty liver disease=1.68 +/- 0.97 mmol/L ] [p = 0.001]] and ALT[[Fatty liver group=36.37 +/- 18.12 IU/L] [Without fatty liver disease=28.15 +/- 13.95 IU/L] [p = 0.026]] were significantly higher in subjects with fatty liver disease. The Receiver Operating Curve [ROC] analysis showed fasting blood glucose and serum triglycerides to have the most area under the curve [AUC] as 0.747 [95% CI: 0.647-0.847] and 0.731[95% CI: 0.622-0.840]; while the other parameters have AUCs as: Serum ALT-0.650 [95% CI: 0.532-0.767] and total cholesterol-0.509 [95% CI: 0.389-0.629]

Conclusion: Hyperglycemia and hypertriglyceridemia are associated with an ultrasonographic diagnosis of fatty liver. Raised transaminase levels in subjects with fatty liver disease also suggest underlying hepatocyte damage

Correlation between amount of smoking and decline in lung function among urban male population

A cross sectional study of six months duration was conducted at the Department of Pulmonology, Shaikh Zayed Hospital, Lahore to compare the lung function decline [percentage of predicted forced expiratory volume in one second with amount of smoking in different groups of subjects according to pack years of smoking. Data was collected from four hundred current smokers meeting inclusion and exclusion criteria collected by arranging free spirometry camps by non-probability purposive sampling. The study participants were having ages between 20 and 67 years with mean age of 38.1 +/- 12.2. It was found that cases in group up to 5 pack years of smoking had highest average FEV[1] 98.0+/-5.3 and FEV[1] decreased smoothly as number of pack years escalated. It was 96.0+/- 10.9 in 6-10 pack year group, 90.0 +/- 9.8 in 11-15 pack years group, 85.3+/-7.2 in group 16-20 and it was 71.9 +/- 16.2 in group 21 and above pack years of smoking. In our study we also found that 79 [19.75%] participants had FEV[1] between 80-50% of predicted out these 58 [73.41%] were in group 21 and above pack years of smoking whereas 08 participants had FEV[1] less than 50% of predicted. It was concluded that the prevalence of undetected persistent airflow obstruction was high and more frequent in smokers having history more than 21 pack years of smoking

Tooth loss prevalence among cardiac males and females

Objective: Objective of study was to observe differences of tooth loss prevalence in males and females with cardiac diseases

Introduction: Poor oral health, tooth loss and periodontal diseases have been reported to be associated with coronary heart diseases. Studies report gender differences in prevalence of cardiac diseases and tooth loss. This paper presents gender differences of tooth loss in cardiac patients of a cardiac hospital of Lahore, Pakistan

Methodology: Age matched Cardiac males and females attending OPD of the Punjab Institute of Cardiology [PIC], Lahore were included in the study. Personal and health-related information were questioned and noted. Oral examination was performed for recording of missing teeth

Results: 1200 CHD study subjects with age-range of 30 to 80 years were enrolled for study. 1045 age matched, 766 [73.30%] males and 279 [26.70%] females were examined for tooth loss. 852 [81.53%] genders had at least one tooth missing. 599 [78.19] males and 253 [90.68%] females were observed with mean tooth loss of 7.5 [SD 8.720] and 11.15 [SD 10.375] respectively. Statistical association among them was also significant [P= 0.000] with OR of 2.339. More subjects [76.29%] showed a loss of 1-15 teeth that was also significant among males and females. Tooth loss was significant in age groups of 41-50 years [P=0.001] and 51-60 years [P=0.000]

Conclusion: Gender differences of tooth loss prevalence among CHD subjects were significant with more risk for males as compared to females

Primary ciliary dyskinesia-kartagener's syndrome: a case report and review of the subject

Primary ciliary dyskinesia [PCD] is a heterogeneous group of inherited disorders in which cilia in the body are dysmotile/immotile due to their structural defectes. Fifty percent of patients with PCD who have situs inversus have Kartagener's syndrome. Our patient had history of recurrent upper and lower respiratory tract infections and infertility. He was admitted this time with features of hepatitis related to congestive hepatomegaly. He was diagnosed as a case of Kartagener's syndrome when on further work up, he was found to have situs inversus along with immotile cilia and spermatozoa

Epidemiology of pemphigus in Faisalabad

Design: epidemiological study

Setting: DHQ and Allied Hospitals department of dermatology Punjab Medical College, Faisalabad

Period: 20-06-1993 to 19-05-1994

Patients and methods: total 30 patients were involved

Results and conclusion: male patients were 19[63.3%] and 11[36.7%] were female. Age of onset varied from 8-80 years, maximum patients were in age group 20-30 years. Twenty six patients [86.7%] were of pemphigus vulgaris, 3[10%] pemphigus foliaceous and 1[3.3%] pemphigus erythematosus. All patients belonged to low socio-economic group of the society, rural 17[56.7%] and 13[43.3%] urban. Duration of disease before presentation varied from 4 weeks to 7 years with mean duration of 1.5 years. Younger patients were diagnosed with high incidence in males and low socio-economic group