Ahsan Zil-E-Ali

A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan

Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Hirschsprung disease is unique to Waardenburg-Shah syndrome subtype 4 and is not associated with any other subtype. We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. This is the first case of WS with homochromatic irises and the fourth case to be reported from Pakistan.

The Effect of Physical Activity in Parkinson’s Disease: A Mini-Review

This article will discuss the effects of physical activity in patients with Parkinsons disease. Presently, the motor and non-motor symptoms are difficult to treat with the current treatmentxa0of Parkinsons; therefore, as an adjuvant to the current treatment physical activity, has been recommended. Physical activity has been known toxa0improve many symptoms in patients with Parkinsons disease. Some of these symptomsxa0include the physical capacities, physical and cognitive functional capacities. Physical activity alsoxa0slowsxa0the disease process, decreases the pain associated with Parkinson`s disease, prolongs the independent mobility (gait, balance, strength) and improves sleep, mood, memory hence improving the overall quality of life. Furthermore,xa0physical activity has the potential to improve the non-motor symptoms (depression, apathy, fatigue, constipation) and the secondary complications of immobility (cardiovascular, osteoporosis) in Parkinsons disease.

Comparison of Knowledge and Attitudes of Medical and Dental Students towards HIV/AIDS in Pakistan

The number of new human immunodeficiency virus (HIV) cases is increasing in Pakistan while it has seen a decline globally. A survey conducted recently has found that 132,000 people in Pakistan suffer from HIV. This study aims to check the levels of knowledge and attitudes about HIV/acquired immunodeficiency syndrome (AIDS) among medical and dental students. This cross-sectional study was designed and conducted at Combined Military Hospital Lahore Medical College and the Institute of Dentistry (CMH LMC) in Lahore, Pakistan in 2016. Students enrolled in the courses of the MBBS and BDS were included in this study. The questionnaire consisted of three sections: demographics, knowledge and attitude. A total of 414 students completed the questionnaire and out of them, 286 were medical students while the rest were dental students. The mean ± standard deviation score for the students was 10.02 ± 4.37 out of 17 for knowledge related to HIV and AIDS. For acceptable attitude towards AIDS and patients afflicted with the disease, an outcome of 1.93 ± 0.75 out of 4 was observed. The results of this study indicate lack of knowledge about HIV, especially about the modes of transmission and prevention techniques. Therefore, regular interactive workshops and seminars, besides teaching sessions, focused lectures on HIV/AIDS, need to be conducted.

Diagnosing Necrotizing Fasciitis Using Procalcitonin and a Laboratory Risk Indicator: Brief Overview

Necrotizing fasciitis is a progressive inflammatory disease that requires an early diagnosis to avoid limb salvage and other deadly manifestations. The current protocol is the microbiological and histopathological sampling of the tissue. Once the diagnosis is made, it should be managed with antimicrobial therapy, debridement, and surgical interventions. Such interventions can be invasive and increase the time to treat, which may increase morbidity. Our article discusses procalcitonin, C-reactive protein, and other markers, such as pain out of proportion,” lactate, creatinine, and creatine kinase, to make a quicker diagnosis before proceeding with invasive procedures. We discussed a similar non-invasive approach called the Laboratory Risk Indicator for Necrotizing Fasciitis scoring system that can aid in the early diagnosis of necrotizing fasciitis, which can prompt rapid empiric therapy, reducing the chances of morbidity. This scoring system comprises C-reactive protein, white blood cell count, hemoglobin level, creatinine, sodium, and glucose. Such non-invasive, bedside, and quick tests can help in reducing the time required to make the diagnosis and can affect the course of the disease, hence, improving patient outcomes.