The importance of imaging for status epilepticus patients to rule out fractures – A case report

AbstractStatus epilepticus could be the first presentation of underlying epilepsy or may occur in patients with known epilepsy. The literature has reported many cases of seizures severe enough to cause dislocations or fracture-dislocations of the shoulder or hip joints and death from hemorrhaging. Although shoulder and hip injuries due to seizures are rare, such events are known to occur, especially in patients with a history of osteoporosis or other risk factors for fractures. We describe a case of a 35-year-old healthy male with no history of osteoporosis or reduced bone density. His first presentation of epilepsy manifested with status epilepticus. This prolonged seizure resulted in bilateral acetabular fracture with left proximal humerus fracture without any trauma or falls. Although fractures associated with seizures have been reported in the literature, dislocation and fractures from seizures involving both the hip and the shoulder joints have only been described in a few cases. Two of these cases involved patients with known epilepsy, osteoporosis and osteomalacia. To the best of our knowledge, this is the first described case of a patient with bilateral hip and one shoulder fracture that had no previous history of epilepsy or seizures, except for febrile seizure as a child, which did not requiring any treatment. He was also not taking any antiepileptic medications, which are known to reduce bone density. This case shows the severity of status epilepticus and the importance of screening for fractures in patients, especially in those with risk factors for reduced bone density

Plant genome editing using engineered nucleases and success of CRISPR/Cas9 system

Development of new plant breeding techniques have facilitated easy manipulation of plants at genetic level. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR associated protein9 (Cas9) system is a valuable addition in programmable nucleases. The CRISPR/Cas9 system uses an RNA component to recognize a target DNA sequences and it has shown promising results with respect to simultaneous editing of multigenic plant traits. In this review, components of CRISPR/Cas9, their construction and its methods of delivery to plant cells are analyzed. Variation in nucleotide sequence of the protospacer adjacent motif, codon optimization and progress in web-based bioinformatic tools, will make CRISPR/Cas9 systems more efficient for plants. Development and optimization of protocols to efficiently target all plant species is still under development. Along with this, methods to inspect induced mutation and efficiency of the system have also been reviewed. Auxiliary improvements and understanding are still required to expand the CRISPR/Cas9 systems to target complex genome architectures and epigenetic elements

Diagnostic Efficacy of MRCP and Ultrasound on Obstructive Jaundice-A Prospective Study

Background: Obstructive jaundice is a common pathological problem that occurs when there is an obstruction to the passage of conjugated bilirubin from liver cells to intestine. Bile, a digestive fluid secreted and produce by the liver. Most common cause of obstructive jaundice is due to gallstones. Objective: The aim of our study was to evaluate the diagnostic Efficacy of MRCP and Ultrasound on obstructive jaundice. Study design: A cross-sectional prospective study was performed. Material & Method: A cross-sectional prospective study was performed in 50 patients who came with the provisional diagnosis of obstructive jaundice were referred to ultrasound for primitive diagnosis and were then shifted to MRCP for a detailed diagnosis. The data was collected from the outpatient department facility of Pakistan Kidney and Liver Institute   Hospital, Lahore. After informed consent, data was collected from MRI GE 1.5 Tesla, Ultrasound Canon Xanio. Results: The results revealed that there are 50 patients of obstructive jaundice. 20 were females’ patients and 30 were males’ patients, with age raging from 20-40 years. There were 17 patients out of  50 in our study which ultrasound showed negative results that were positive on MRCP there were 28 patients that were positive on both ultrasound and MRCP. There were 3 patients that were positive on ultrasound but negative on MRCP and 2 patients that were negative on both modalities Conclusion: Our study concluded that higher ratio of males then females in our sample size, RHC was positive in all the patients with dominant cause of jaundice was stone with in biliary channel. We found that MRCP has better efficiency comparative to ultrasound to detect jaundice and its etiology i.e., 90% true positive. Keywords: Magnetic resonance cholangiopancreatography, Ultrasonography, Obstructive jaundice DOI: 10.7176/JHMN/91-03 Publication date:July 31st 202

Effects of lignite-based sulphur fertilizer levels on soil properties and growth of Brassica napus

Lignite and sulphur are instrumental in enhancing the growth and yield-related traits of Brassica napus, commonly known as rapeseed. This study aimed to explore the effects of lignite-based sulphur fertilizers on Brassica napus production. Spanning two consecutive seasons, the experiment included treatments with a control group, three levels of elemental sulphur (30, 40, and 50 kg ha-1), and three levels of lignite-based sulphur fertilizer (30, 40, and 50 kg ha-1). Employing a randomized complete block design with four replications, the study revealed that applying lignite-based sulphur fertilizer at a rate of 50 kg ha-1 led to significant improvements in various growth parameters, such as plant height, primary and secondary branches per plant, pods per plant, pod length, seeds per pod, biological yield, seed yield, thousand seed weight, and oil yield. Notably, substantially higher seed and oil yields were achieved with the application of 50 kg ha-1 of lignite-based sulphur fertilizer. In semi-arid climates, to maximize rapeseed yield, yield components, and quality, it is advisable to utilize lignite-based sulphur fertilizer at a rate of 50 kg ha-1

Twelve-month observational study of children with cancer in 41 countries during the COVID-19 pandemic

Introduction Childhood cancer is a leading cause of death. It is unclear whether the COVID-19 pandemic has impacted childhood cancer mortality. In this study, we aimed to establish all-cause mortality rates for childhood cancers during the COVID-19 pandemic and determine the factors associated with mortality. Methods Prospective cohort study in 109 institutions in 41 countries. Inclusion criteria: children <18 years who were newly diagnosed with or undergoing active treatment for acute lymphoblastic leukaemia, non-Hodgkin's lymphoma, Hodgkin lymphoma, retinoblastoma, Wilms tumour, glioma, osteosarcoma, Ewing sarcoma, rhabdomyosarcoma, medulloblastoma and neuroblastoma. Of 2327 cases, 2118 patients were included in the study. The primary outcome measure was all-cause mortality at 30 days, 90 days and 12 months. Results All-cause mortality was 3.4% (n=71/2084) at 30-day follow-up, 5.7% (n=113/1969) at 90-day follow-up and 13.0% (n=206/1581) at 12-month follow-up. The median time from diagnosis to multidisciplinary team (MDT) plan was longest in low-income countries (7 days, IQR 3-11). Multivariable analysis revealed several factors associated with 12-month mortality, including low-income (OR 6.99 (95% CI 2.49 to 19.68); p<0.001), lower middle income (OR 3.32 (95% CI 1.96 to 5.61); p<0.001) and upper middle income (OR 3.49 (95% CI 2.02 to 6.03); p<0.001) country status and chemotherapy (OR 0.55 (95% CI 0.36 to 0.86); p=0.008) and immunotherapy (OR 0.27 (95% CI 0.08 to 0.91); p=0.035) within 30 days from MDT plan. Multivariable analysis revealed laboratory-confirmed SARS-CoV-2 infection (OR 5.33 (95% CI 1.19 to 23.84); p=0.029) was associated with 30-day mortality. Conclusions Children with cancer are more likely to die within 30 days if infected with SARS-CoV-2. However, timely treatment reduced odds of death. This report provides crucial information to balance the benefits of providing anticancer therapy against the risks of SARS-CoV-2 infection in children with cancer

Relationship between resting and action tremors in Parkinson’s disease

Objective: To determine the relationship between resting tremor (RT) and action tremor (AT) in Parkinson’s disease (PD) patients. Methods: A retrospective study of RT and AT severity was conducted in 100 PD patients. The severity rating for each type of tremor in the upper extremities was assessed. The disparity in tremor severity between extremities for each tremor type was compared to that of the other two to identify commonalities in the laterality of the tremor manifestation. Results: Overall, RT is predictive of AT on the same side, but not the opposing side of the body. Patients with less intense resting right upper limb (RRU) tremor and moderately intense RRU tremor were significantly more likely to have an action right upper limb (ARU) tremor (−1.53, P = 0.020; −1.88, P = 0.005, respectively). Similarly, patients with less intense resting left upper limb (RLU) tremor and moderately intense RLU tremors were significantly more likely to have an action left upper limb (ALU) tremor (−3.49, P = 0.000; −1.86, P = 0.017, respectively). In addition, RRU and ALU tremors were associated with an increase in RLU and ARU tremors, respectively. Conclusion: Tremors are common findings in PD patients, and often impair quality of life. By identifying and classifying the relationship between resting and ATs in PD patients, our study sheds light onto the importance of better understanding and future management of this debilitating symptomology

Impact of ethnicity on mood disorders in Parkinson's disease

Anxiety and depression are common in Parkinson's disease (PD) patients, yet their prevalence and severity compared to individuals without PD requires more research. Moreover, it has never been compared across different ethnic groups. The objective of this study was to close that gap in the literature by exploring the caseness and severity of anxiety and depression in PD patients of different ethnicities compared to controls without PD. It was found that caseness and severity of anxiety and depression are higher in individuals with PD compared to controls. Furthermore, the caseness and severity of anxiety and depression do not vary significantly among ethnic groups. Finally, depression caseness was not predicted by age, gender, disease duration, restless legs syndrome prevalence, Hoehn and Yahr (H&Y) score nor Unified Parkinson's disease rating scale part III (UPDRS-III) score. Anxiety caseness was predicted by gender, with females 2.7 times more likely to have anxiety caseness than males. Overall, our study suggests that treatment plans should be individualized based on prevalence and severity of the two conditions in individuals with PD rather than generalize treatment for specific ethnic groups

Alkaptonuria, more than just a mere disease

Alkaptonuria (AKU) is considered a rare autosomal recessive condition that results in an accumulation of homogentisic acid in body tissues and causes long-term clinical, neurological and psychological complications. We present a comprehensive evaluation of an atypical 46-year-old Caucasian male who developed all clinical diagnostic symptoms of AKU (ochronotic pigmentations, dark urine and clinical arthritis of major joints including spine) by 25 years of age, well before the typical age mentioned in many reviews. First signs of ochronotic ear pigmentations unexpectedly started appearing as early as 12 years of age. A long “disease-free” period typical in classical AKU patient was also absent. This case report highlights the importance of considering psychological issues in AKU patients. The patient showed symptoms of dysthymia reporting social isolation, diminished interest in pleasurable activities, feeling of worthlessness and irritability as major psychological issues. Early ochronotic pigmentation, advanced spinal myelopathy and arthropathy of major joints suggests aggressive course of the disease. Our patient underwent bilateral shoulder replacement due to AKU-induced arthropathy resulting in restoration of some range of motions. AKU is not fully understood and we recommend treating it as a multidimensional disease with simultaneous physiological, neurological and psychological effects. Early diagnosis, understanding of disease prognosis and emphasis on psychological health is needed to improve the quality of life of AKU patients

Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene

Ataxia, although rare, can be a symptom of many debilitating movement disorders. Hereditary ataxias are one subset of this condition and manifest when there is a genetic abnormality involved. Ataxia oculomotor apraxia type 1 (AOA1), an autosomal recessive ataxia, results from a mutation on the aprataxin gene (APTX). We characterized a novel homozygous deletion mutation (IVS4-12delT) on the APTX gene in a 14-year-old male born to consanguineous parents. This case report emphasizes the importance of investigating and increasing awareness of novel genetic mutations in order to help diagnose and further classify hereditary ataxias