Serum calcium and magnesium abnormalities in patients with status epilepticus: a single centre tertiary care experience

Electrolyte imbalances frequently cause seizures, and these seizures may be the sole presenting symptom. Seizures are especially common in patients with sodium disorders, hypocalcemia, and hypomagnesemia. Successful management of patient seizures begins with the establishment of an accurate diagnosis of the underlying electrolyte disturbance, because rapid identification and correction of the disturbance is necessary to control seizures and prevent permanent brain damage. Objectives: To delineate the percentage of people with status epilepticus having calcium and magnesium deficiencies at admission. Methods: The study was carried out from April 2013 to October 2013 at Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan. Seventy patients diagnosed with status epilepticus were enrolled in the study and frequencies of serum calcium & magnesium abnormalities were measured and compared. Results: Calcium level was low in 29 (41.4%) patients. Magnesium level was low only in 7 (10%) patients. Both calcium & magnesium levels were low in 7 (10%) patients. Among the known epileptics, 16 (76.1%) were on regular antiepileptic treatment. Among those on antiepileptic drugs, 8 (50%) had low calcium levels while 6 (37.5%) had low magnesium levels. Conclusion: Serum calcium level was lower in nearly half while magnesium in nearly 2/5th of the previously diagnosed epileptics who presented in status. Among those on antiepileptic drugs, 50% had low calcium levels while 37.5% had low magnesium levels. It is suggested that all epileptic patients, especially those on long term AEDs, should at least be worked up once in detail for electrolyte abnormalities as timely identification and correction can help reduce the morbidity and mortality associated with future status epilepticus

Transcatheter Aortic Valve Replacement Incidentalomas: A Multimodality Imaging Case of Giant Right Coronary Aneurysm

Giant coronary artery aneurysms (CAAs) are defined as having a diameter of greater than 2 cm. We report a case of an 82-year-old male with severe aortic stenosis incidentally diagnosed with giant right coronary artery aneurysm (gRCAA) while undergoing evaluation for transcather aortic valve replacement (TAVR). It was causing a mass effect on the right cardiac chambers but was otherwise asymptomatic. Our patient was successfully treated with surgical excision of aneurysm with concomitant coronary artery bypass grafting (CABG) and surgical aortic valve replacement (SAVR). The patient remained stable at discharge and on serial follow-ups for two years. In conclusion, due to the associated complication and increased risk of mortality with giant coronary aneurysms, we recommend surgical approach instead of medical management alone. We also call for evidence-based recommendations and guidelines for management of TAVR incidentalomas

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Background Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been reported in a small number of patients with recessively inherited spondyloepiphyseal dysplasia with joint dislocation, short stature and scoliosis. We report here molecular and clinical findings of affected individuals in three consanguineous Pakistani families. Affected individuals in all three families had a uniform phenotype including severe short stature, multiple dislocated joints, progressive scoliosis and facial dysmorphism. Methods Clinical evaluation was done for three unrelated families. Radiological survey of bones was completed for patients from two of the families. Whole exome sequencing index patients from each family was performed followed by Sanger sequencing for validation of segregation of identified variants in respective families. In-silico analysis for determining pathogenicity of identified variants and conservation was done. Results Whole-exome sequencing revealed biallelic variants c.590 T > C;p.(Leu197Pro), c.603C > A;p.(Tyr201Ter) and c.661C > T;p.(Arg221Cys) in CHST3 (NM_004273.5) in the three families with eight, five and two affected individuals, respectively. Contrary to previous reports, affected individuals in none of the families exhibited a hearing loss. Conclusion We describe genotypic and phenotypic findings of three unrelated families with spondyloepiphyseal dysplasia. Our study confirms phenotypic variability and adds to the genotypic spectrum of spondyloepiphyseal dysplasia.Peer reviewe

Transcatheter Aortic Valve Replacement Incidentalomas: A Multimodality Imaging Case of Giant Right Coronary Aneurysm

Giant coronary artery aneurysms (CAAs) are defined as having a diameter of greater than 2 cm. We report a case of an 82-year-old male with severe aortic stenosis incidentally diagnosed with giant right coronary artery aneurysm (gRCAA) while undergoing evaluation for transcather aortic valve replacement (TAVR). It was causing a mass effect on the right cardiac chambers but was otherwise asymptomatic. Our patient was successfully treated with surgical excision of aneurysm with concomitant coronary artery bypass grafting (CABG) and surgical aortic valve replacement (SAVR). The patient remained stable at discharge and on serial follow-ups for two years. In conclusion, due to the associated complication and increased risk of mortality with giant coronary aneurysms, we recommend surgical approach instead of medical management alone. We also call for evidence-based recommendations and guidelines for management of TAVR incidentalomas

Economic Growth and Inflow of Remittances:Do They Combat Poverty in an Emerging Economy?

Poverty is such a social problem which itself begets so many socio-economic evils in a country. It never lets the government of a country to sit easy and focus on some other issues. Almost all countries who are running through this lurch; at there, governments, policy advisors and researchers are always busy in formulating strategies to combat poverty. Therefore; feeling the significance of the topic, this study is designed to empirically test the impact of economic growth, workers remittances, rural population and literacy rate on poverty in Pakistan. The empirical findings of the study reveal that economic growth; workers' remittances and rural population significantly deteriorate poverty. Moreover; it has found that there exists bidirectional causality between economic growth and poverty and between workers’ remittances and poverty in Pakistan.No Full Tex

Genetic analysis of pedigree.

<p>a) Pedigree examined in this study. Only individuals from generations III and IV were available for genetic analysis. b) Location of the mutation NM_020919.3:c.3512+1G>A at the boundary of the 21st intron of the <i>ALS2</i> gene and c) confirmation by Sanger sequencing. d) RT-PCR of total RNA isolated from patient (IV-4 labeled as ALS2) and two control fibroblast cells (labeled BJ and CV), visualized on a gel alongside an Invitrogen 1 kb+ ladder. Three splicing transcripts corresponding to the three bands (102 bp encoding p.Ser1116_Thr1170del [red], 200 bp encoding p.Pro1148fs [blue] and 267 bp encoding the normal protein [black]) were confirmed by Sanger sequencing and illustrated in the figure.</p