Myotonic dystrophy in a Pakistani family: a case series and literature review

Myotonic dystrophy also known as (Steinert\u27s disease) is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population. It is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, cataracts, intellectual deterioration and endocrinopathies. Affected men may have gonadal atrophy and infertility. On the other hand women are generally fertile. We report a case series of three individuals belonging to the same family presenting with characteristic features of myotonic dystrophy. The presentation of these cases depicts that this disease can lead to disability, loss of independence and social isolation especially in the elderly. They warrant adequate work up for diagnosis which may sometimes be extensive. Proper genetic counseling of the family is required regarding nature of the disease and with risks and prognosis

Awareness of stroke among general Practitioners

Stroke is the 2nd leading cause of death and 3rd leading cause of disability after cancer and ischemic heart disease. The recognition of acute stroke symptoms and knowledge about timely and prompt referral of a patient for possible thrombolysis is a need of time for which general practitioners (as they have to be the first responders many a times across Pakistan) need to be equipped with the advance knowledge about stroke treatment

Sodium in the leaf apoplast does not affect growth of maize (Zea mays L.) under saline field conditions

Studies dealing with leaf apoplastic Na+ concentration of monocots, such as maize, under actual saline soils are scarce. Therefore, the current study was aimed to investigate the growth, total ions and leaf apoplastic Na+ concentration of salt sensitive maize plants growing in saline soils. Plants were subjected to salt stress with an electrical conductivity (EC) of 3, 8 10 and 14 dS m-1 using completely randomized design (CRD) for 3 weeks. Shoot fresh weight, plant height, leaf area and leaf length of maize plants drastically decreased when plants were exposed to increasing salt stress. We found that maize could display a steep increase in Na+ concentration in the total shoot biomass with maximum 82.3 μmol g-1 FW, when plants were subjected to highest soil salinity at 14 dS m-1. As expected, other cations i.e., K+, Ca2+ and Mg2+ decreased with increasing EC of the soil compared to Na+. Surprisingly, a maximum of 17 mM Na+ were found in the leaf apoplast of maize grown under very high soil salinity at EC 14 dS m-1. Considering this lower leaf apoplastic Na+ concentration at such a high EC level in maize plants, current study does not corroborate that surplus sodium in the leaf apoplast can result in dehydration and cell death under salt stress

Hemichorea Associated with type 2 Diabetes: A Rare Neurological Complication

Diabetic hemichorea/hemiballism is a spectrum of hyper kinetic, involuntary, irregular, purposeless, non-rhythmic, rapid and unsustained movements flowing from one part of the body to another. It involves contra lateral basal-ganglia and often striatum of the brain. Here we are reporting an un-usual case of choreiform movement disorder which was sudden in onset. It was accompanied with abnormally high values of blood glucose. Our patient had a complete remission of symptoms after an adequate control of blood glucose was achieved. This case illustrates the importance and rarity of hyperglycemia as a rare cause of hemichorea. It recovers rapidly and has a good prognosis. Screening for hyperglycemia even in those patients without a prior history of diabetes is very important, once they present with an involuntary movement disorder. Recognition and early treatment is beneficial to prevent adverse outcomes. Today, in the medical literature it is often referred to as C-H-BG (chorea, hyperglycemia, basal ganglia) syndrome

Demographic profile and associations of dialysis dependent chronic kidney disease patients in federal capital of pakistan.

Depression is quite prevalent in patients with chronic kidney disease. Knowing the frequency of depression in such patients and its association with different variables may be helpful in devising strategies for better and timely management of such patients in our setup. Materials and methods: This cross sectional study was conducted by recruiting 315 patients of either gender, ≥ 18 years of age with chronic kidney disease (CKD) and receiving care at Pakistan Institute of Medical Sciences, Islamabad. Patients were divided into two groups; group A: pre-dialysis and group B: dialysis (End Stage Renal Disease). Prevalence of depression in CKD and dialysis group and its association with gender, level of formal education and socioeconomic status was evaluated using descriptive statistics and chi-square test. Results: Out of 204 (100%) patients in group B, 171 (83.8%) patients had depression while in group A, 68 (61.3%) out of 111 (100%) patients were depressed. The prevalence of depression in all stages of CKD combined was 75.87 % (239 out of 315) and that in dialysis group was 83.82% (171 out of 204). Frequency of depression was significantly higher in the dialysis group (p=0.01). Those with higher level of education less commonly suffered from depression (p=0.01). No such association was found with gender (p=0.68) or socioeconomic status (p=0.12).Conclusion: Frequency of depression is significantly higher in dialysis dependent CKD patients with an overall prevalence of 75.87% in CKD and 83.82% in dialysis dependent ones. Higher level of formal education positively affects the outcome while gender and socioeconomic class have no significant association

Polyneuropathy associated with iga Paraproteinemia: a case report and literature Review.

Paraproteinemia is precipitated by an accumulation of monoclonal plasma cells or B lymphocytes. Idiopathic neuropathies that are associated with paraproteinemia account for only 10% of the neuropathies. Paraprotein acts like an antibody and is targeted against myelin and axons present in the peripheral nerves. Despite being of interest for quite a long time, the caudal relationship between paraproteinemias and peripheral neuropathies still remains a sorcery. We report a case of a middle aged male who presented with pain and parasthesias in both arms and legs. His workup revealed him to be having a paraproteinemic neuropathy consistent with IgA Lambda chains that account for being the most rare type of monoclonal gammopathy than IgM or IgG having the potential to progress to smouldering multiple myeloma

Etiology of stroke in young pakistani adults; results of a single center study

The aim of this study was to determine the demographic profile and incidence of young stroke at a tertiary care setup in Islamabad, Pakistan. Materials and Methods: This single centre, cross sectional study was conducted by recruiting 119 patients of either gender, ≥ 12and ≤ 45 years of age with stroke and receiving care at Pakistan Institute of Medical Sciences, Islamabad. Results: Total number of young strokes was 119 out of a total of 322 strokes i-e-, 36.9 %; 1/3rd strokes were in ≤ 45 years of age. Ischemic arterial strokes were 47% (56 out of 119) while venous ischemic strokes were 11.7 % (14 out of 119) and almost all in females (13 out of 14; 92.8 %).Infective causes of central nervous system were identified in24.3 % (29 out of 119). 49 patients (41.1 %) had hemorrhagic strokes. Major individual risk factors for stroke included hypertension identified in 35 (29.4 %)followed by diabetes mellitus in 8 (6.7 %) patients. Amongst infectious causes, CNS tuberculosis was the major infection associated with young stroke i-e-, 89.6 % (26 out of 29). Conclusion: Nearly 1/3rd of strokes in our population are in young.While risk factors in general for stroke stand true for young stroke as well namely hypertension and diabetes, CNS infections are a major cause of young stroke in Pakistan; particularly CNS TB. While majority of strokes in elderly are ischemic, strokes in young comparatively are almost equally divided between ischemia and hemorrhage i-e-, 1.4:1. 1/5th of these ischemic strokes are due to cerebral venous thrombosis. National level guidelines should therefore adopt different strategies for primary and secondary prevention, laboratory work up and imaging, and treatment of stroke in young