Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features.

Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient. Notably, some secondary phenotypic clinical features such as multiple bony deformities, multiple skin tags and a space occupying lesion in posterior cranial fossa (Lipoma) resulting in obstructive hydrocephalus were also present in this patient. These atypical features have never been previously reported with LMHD, to the best of our knowledge. This case extends the variable phenotype and associated features of this syndrome.

Efficacy of Hematological and Coagulation Parameters in the Diagnosis and Prognosis of Patients with Acute Coronary Syndrome.

Background : The diagnosis and management of acute coronary syndrome (ACS) have improved significantly over the past few decades; however, the recognition of myocardial ischemia still proves to be a dilemma for cardiologists. The aim of this study was to determine the role of hematological and coagulation parameters in the diagnosis and prognosis of patients with ACS. Methods: This prospective study recruited 250 patients with ACS and 250 healthy controls. The diagnostic role of hematological and coagulation parameters was assessed by comparing the patients with ACS with the control group. The relationships between these parameters and mortality were determined by dividing the patients into 2 groups: Group A (discharged) and Group B (patients who died within 30 days of follow-up). Multivariate Cox regression analysis was performed to calculate the hazard ratio (HR). Results: The mean age of the patients was 55.14±10.71 years, and 65.2% of them were male. Prothrombin time (P<0.001), activated partial thromboplastin time (P<0.001), mean platelet volume (MPV) (P<0.001), white blood cell (WBC) count (P<0.001), and red blood cell distribution width (RDW) (P<0.001) were significantly higher in the case group than in the control group. WBC count (P<0.001), RDW (P<0.001), and MPV (P<0.001) were significantly higher in the controls than in the case group. The Cox regression model showed that RDW above 16.55% (HR=6.8), MPV greater than 11.25 fL (HR=2.6), and WBC higher than 10.55×103/µL (HR=6.3) were the independent predictors of mortality. Conclusion: In addition to being the independent predictors of short-term mortality, RDW, WBC, and MPV when used together with the coagulation profile may aid in the diagnosis of ACS in patients presenting with chest pain.

Rheumatoid Arthritis Masquerading as Fibromyalgia.

Symptoms of inflammatory arthritis such as rheumatoid arthritis (RA) can overlap with fibromyalgia syndrome (FMS). Moreover, FMS and RAcan coexist. Hence, the diagnosis of low intensity, antibody-negative RAmay present a challenge. Here, we present the case of a middle-aged woman thought to have FMS, osteoarthritis and osteoporosis for 4 years prior to being diagnosed as seronegative RAon musculoskeletal ultrasound (MSKUS). Targeted therapy with etanercept led to a complete clinical response and normalization of previously elevated C-reactive protein. We conclude that MSKUS is a sensitive tool for distinguishing low-intensity inflammatory arthritis from FMS with important clinical consequences.

Prevalence of Conventional Risk Factors and Evaluation of Baseline Indices Among Young and Elderly Patients with Coronary Artery Disease.

INTRODUCTION: Coronary Artery Disease (CAD) is a leading cause of morbidity and mortality worldwide, manifesting in a variety of clinical spectrums such as an asymptomatic disease or acute coronary syndrome. It has become highly prevalent in Southeast Asia, including Pakistan. There has been little work done on the prevalence of traditional risk factors in different age groups and genders and there is a dire need to gauge the importance of baseline indices in CAD patients. AIM: To determine the prevalence of conventional risk factors and evaluate the variations in lipid profiles, electrolyte levels and haematological indices among patients with CAD in different age groups and gender. MATERIALS AND METHODS: This cross-sectional study was carried out in a Tertiary Care Hospital in Karachi, Sindh, Pakistan from January to June 2016, among patients with CAD. We recorded the presence of conventional risk factors and baseline indices within the first 24 hours of admission. Continuous variables were compared using Independent t-test or Mann-Whitney test and categorical variables were compared using chi-square or Fisher's exact test. RESULTS: The most frequent risk factor was dyslipidemia (91.2%), followed by hypertension (70.4%), diabetes (51.2%), family history of CAD (40.0%) and smoking (29.2%). Total of 98.4% of patients had at least one risk factor. Diabetes and hypertension were found to be common in females; whereas, smoking was predominantly present in males. Diabetes and dyslipidemia were mostly encountered in elderly patients. The most frequent lipid alteration was low levels of High Density Lipoprotein (HDL). Cholesterol and HDL levels were found to be higher in females than males. Elderly patients had lower levels of HDL and higher levels of Cholesterol. The levels of haematological indices were found to be higher in males and younger patients. The median levels of serum sodium and potassium were found to be higher in elderly patients. CONCLUSION: Our study findings corroborate with the findings from previous studies regarding the significance of risk factors in causing cardiovascular pathology. Medical interventions and dietary control to improve body's lipid status would be indispensable in the prevention of CAD. Deranged electrolyte levels necessitate correction of body electrolyte parameters as an adjunct in prevention strategies.

Frequency and predictors of non-adherence to lifestyle modifications and medications after coronary artery bypass grafting: A cross-sectional study.

BACKGROUND: Non-adherence to dietary recommendations, exercise and prescribed drug regimens, in coronary heart disease (CHD) patients following coronary artery bypass grafting (CABG), is a major health care issue worldwide. AIMS AND OBJECTIVES: The primary objective of this study was to investigate the frequency and predictors of non-adherence to lifestyle changes and medication among CHD patients after undergoing CABG surgery. METHOD: The sample of this cross sectional descriptive study was 265 patients who underwent isolated primary CABG. Participants who met the eligibility criteria were provided with a pre-coded questionnaire 4 weeks or more after surgery. Adherence was assessed on the basis of patient's self-report. Significance of results was analyzed using Chi square test. RESULTS: Roughly half of the patients were non-adherent to dietary recommendations (n=120, 45.3%) and exercise (n=109, 41.1%) while about one third (n=69, 26%) were non-adherent to prescribed medications. Unwillingness to adopt a new lifestyle and more than one social gathering per week, were found to be statistically significant predictors of non-adherence to diet (p-values<0.001). Reluctance to follow exercise regimen, busy schedule, and fear that exercise will aggravate heart issues were commonly reported as reasons for non-compliance to exercise. As for non-adherence to medication, forgetfulness, affordability of drugs and too many medications to take were important predictors. CONCLUSION: Non-adherence to lifestyle modifications and medication is an emerging problem worldwide. It is essential for medical health professionals to discuss these predictors and address them individually. Our findings highlight the need for a healthy physician and patient relationship.