Hereditary sensory autonomic neuropathy II, a rare disease in a large Pakistani family

Hereditary Sensory Autonomic Neuropathy II (HSAN II) is a rare genetic disorder, characterized by severe loss of pain, temperature and touch sensation. Injuries in these patients can progress to necrosis and shedding of digits and limbs. Here we report two cases of HSAN II belonging to a Pakistani family. Individual 1, a forty five year old man, had complete loss of pain sensation since birth. Self-mutilation and complication of injuries resulted in the shedding of all the digits and right foot and surgical amputation of left leg. Individual 2, a five year old girl,had delay in healing of wounds and self-mutilation. Examination showed a complete lack of pain sensation throughout her body and hyporeflexia. As the genetic cause of HSAN II is unknown, identification of more patients will allow further research on this disease and possibly develop a cure

A rare case of simple hereditary recessive optic atrophy

Simple Autosomal Recessive Optic Atrophy (AROA) is a rare hereditary disorder that belongs to a group of disorders called Hereditary Optic Atrophy. Patients diagnosed with simple AROA have complete blindness since birth or from first few months of life. This blindness does not improve with age. However, no other organ or system is affected in this disorder. There is no known cause or gene mutation associated with it. Here we report a case of a two year old child diagnosed with simple AROA. Family history of the patient revealed that an older deceased relative also suffered from similar symptoms. Identification of this and similar cases of the simple AROA can help us better understand this disorder and hopefully one day help us develop a treatment for it

A Rare Case of Becker Disease in a 7 Year Old Boy

Becker Disease is an autosomal recessive version of the rare congenital disorder called Myotonia Congenita. Due to the rarity of Becker Disease, the genetic and pathological basis of this disease have not been studied well and possible diagnostic methods and techniques are yet to be explored. The existing method of diagnosis of such a case is predominantly dependent on the clinical examination. More work and studies need to be done on the diagnostic aspect of this disease to discover newer diagnostic methods for this disease, which are more reliable and specific. In order to develop better diagnostic methods for the disease, more cases of Becker disease need to be reported, with details of clinical and structural abnormalities. Here, we present the case report of a seven year old boy who has a history and clinical findings suggestive of Becker disease. Identification of this and similar cases of Becker disease can help us better understand this disease and hopefully one day help us develop a treatment for it

Misconceptional views about epilepsy exist across social class system of society

Epilepsy affects over 1% of population worldwide. Studies have shown that although our understanding about epilepsy has come a long way, misconceptions about its etiology and treatment exist in rural slums. However, no study has been conducted to see whether such misconceptions exist in middle and upper socio-economic class. This study aims to explore the existence of misconceptions and social stigma in the middle and upper socio-economic class. Materials and Methods: We conducted a survey-based study about epilepsy on 227 participants, belonging to middle and upper socio-economic class. Results: The symptoms of generalized tonic-clonic seizures were correctly described by participants. However, magic, superstition and ‘jin’ were considered as the etiology by some. Incorrect treatment options, like shoe sniffing and ‘taweez’ etc., were also mentioned. Social stigmas regarding sharing information about epilepsy and marrying epileptics also existed. Discussion: Our study shows that although the general understanding about epilepsy was correct in majority of participants belonging to the middle upper socio-economic class, it was restricted to generalized tonic clonic seizures. Key misconceptions regarding the etiology and treatment of epilepsy and social stigma associated with it did exist. These findings emphasize the need to educate all segments of the society about epileps

Prevalence of malaria reported during summer and winter at a tertiary care hospital in Karachi, Pakistan

This study was designed to determine the prevalence and type of malaria cases that presented throughout the year 2014 in a tertiary care hospital in Karachi, Pakistan. A total of 1099 cases, (377 females, 722 males) were reported. Plasmodium vivax (P. vivax) was discovered in 93.7% cases compared to 6.3% Plasmodium falciparum (P. falciparum). Based on the highest and lowest weather temperatures, in summer (June, July and August) and in winter (December, January and February) were differentiated. The number of cases were greater during summer months compared to winter. Interestingly, the ratio of P. falciparum to P. vivax during winter was greater compared to summer. Finally, there was a strong correlation between increasing humidity and number of malaria cases. These findings show that even though the incidence of malaria is higher in summer, malaria cases are still reported in winter. Furthermore, the probability of finding P. falciparum (which causes cerebral malaria ) is higher in winter

A species dependent response to the pro-epileptic drug pentylentetrazole in birds

Epilepsy is common disorder that affects over 50 million people worldwide. Birds remain a promising yet largely under-explored model of epilepsy. This study reports the comparison of the response of two species of birds, Australian Parrots (APs) and Sparrows (SPs), to a pro-epileptic drug, Pentylenetetrazole (PTZ). PTZ injections caused myoclonic jerks (MCJs) and tonic clonic seizures (TCSs) in both species. The frequency of MCJs in APs was greater at the dose of 75 mg/kg compared to both 50 mg/kg and 25 mg/kg while it was not significantly different in SPs. The comparison of APs and SPs showed that the frequency of MCJs was greater in APs compared to SPs at 25 mg/kg and 75 mg/kg while its latency was reduced at 25 mg/kg and 50 mg/kg. Interestingly SPs had a reduced latency of TCSs compared to APs at 75 mg/kg. Glutamatergic and Gabaergic cell count was conducted to determine an association with the epileptic response to PTZ. The Glutamatergic cell counts for SPs was significantly greater than APs and conversely the Gabaergic cell counts in APs was higher compared to SPs. The reason for this difference in findings needs to be further investigated. This study shows that birds, and APs and SPs in particular, are a valid, interesting and under-explored model of epilepsy that should be further explored in order to understand the mysteries of epilepsy

Burden of ocular abnormalities in patients with beta thalassaemia: A cross-sectional study

Introduction: In Pakistan, the reported carrier rate of thalassaemia is estimated to be 5%-8% with 5000 new patients diagnosed every year. Several known systemic complications of beta thalassaemia major have been studied, but no studies are conducted to assess ocular complications among these patients from our population.Methods: It was a cross-sectional study design conducted at three private and public sector centres in Pakistan. We recruited 203, 11-17 years old children with beta thalassaemia major in our study. Frequency of overall ocular complications such as retinal pigment epithelium degeneration, visual field defects, increased retinal vascular tortuosity, lenticular opacities, anterior segment abnormality, etc among beta thalassaemia patients were verified by an ophthalmologist.Results: On univariate analysis male gender (prevalence ratio (PR): 1.023 (0.903 to 1.160), OGTT levels (PR: 0.99 (0.978 to 1.003) and serum calcium levels (PR: 0.716 (0.616 to 0.936)) were significantly associated with ocular complications. However, on multivariable analysis after adjusting for covariates we observed that the prevalence of ocular complications was 88% higher in males as compared with females. Moreover, with every one unit increase in serum calcium levels the prevalence of ocular complications were decreased by 24%.Conclusion: Our study results showed that the frequency of ocular complications in beta thalassaemia children was 22.7%. Male gender was a risk factor for ocular complications among children with beta thalassaemia. However, high calcium levels among these patients were found to be protective for ocular complications

Molecular and radiological characterization of glioblastoma multiforme using magnetic resonance imaging

Background: Glioblastoma multiforme (GBM) is the most malignant, aggressive and common form of primary brain cancer. Currently, GBM is considered to be a homogenous mass as all its margins are treated equally at the time of resection. However, it is not known whether radiologically distinct regions of GBM are also distinct at molecular level. We conducted this study to see if radiologically distinct regions were also different at the molecular level.Materials and Methods: In 20 patients, MRI derived variance known as Apparent Diffusion Coefficient (ADC) was plotted against Contrast Enhancement (CE). Four radiologically distinct regions were identified: 1) high ADC and low CE, 2) low ADC and low CE, 3) high ADC and high CE and 4) low ADC and high CE. Biopsy samples were collected from these four regions of interest in each patient and immunohistochemistry was conducted to characterize cellular features and identify oncogene and stem cell marker expressing cells.Results: Markedly increased nuclear pleomorphism, cellularity and necrosis were seen in region 2. Oncogene IDH was expressed in all regions, however, it was highest in region 4. Stem cell marker, CD44 expression was highest in region 1 and lowest in region 2 and 3. The expression of CD133 was highest in region 3.Conclusions: This study shows that ADC/CE plot can divide GBM into four regions, whose heterogeneity is evidenced by differential expression of nuclear pleomorphism, necrosis, cellularity and mitotic rate as well as the expression of oncogene and stem cell markers

Building bridges through science

Science is ideally suited to connect people from different cultures and thereby foster mutual understanding. To promote international life science collaboration, we have launched “The Science Bridge” initiative. Our current project focuses on partnership between Western and Middle Eastern neuroscience communities