Wolfram syndrome is a rare neurological disorder characterised by four main symptoms: diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. It is caused by alterations in the CISD2 and WFS1 genes, which encode important proteins involved in cellular processes. Wolfram syndrome type 1 (WS1) has an earlier onset of diabetes and more severe neurological and ocular involvement compared to WS2. The diagnosis of Wolfram syndrome is based on the presence of early-onset diabetes and progressive optic atrophy. Genetic analysis, such as sequencing of the WFS1 gene, is used to confirm the diagnosis. The prevalence of Wolfram syndrome varies across populations, with a carrier frequency of 1 in 354. Individuals with Wolfram syndrome may experience a range of complications, including neurological abnormalities, urinary tract problems, depression, and an increased risk of suicide. The pathophysiology of Wolfram syndrome involves endoplasmic reticulum stress and unfolded protein responses, leading to cellular dysfunction and apoptosis. A differential diagnosis includes other genetic and mitochondrial disorders with similar symptoms. Although there is no cure for Wolfram syndrome, careful clinical observation and supportive therapy can help manage the symptoms and improve the quality of life for affected individuals.
{"title":"Wolfram Syndrome: A Rare Genetic disorder affecting Multiple Organ Systems","authors":"Bhagya Sree Lekha Annamneedi, Abhiram Sorra, Vinod Kumar Mugada, Srinivasa Rao Yarguntla","doi":"10.52711/2321-5836.2023.00031","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00031","url":null,"abstract":"Wolfram syndrome is a rare neurological disorder characterised by four main symptoms: diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. It is caused by alterations in the CISD2 and WFS1 genes, which encode important proteins involved in cellular processes. Wolfram syndrome type 1 (WS1) has an earlier onset of diabetes and more severe neurological and ocular involvement compared to WS2. The diagnosis of Wolfram syndrome is based on the presence of early-onset diabetes and progressive optic atrophy. Genetic analysis, such as sequencing of the WFS1 gene, is used to confirm the diagnosis. The prevalence of Wolfram syndrome varies across populations, with a carrier frequency of 1 in 354. Individuals with Wolfram syndrome may experience a range of complications, including neurological abnormalities, urinary tract problems, depression, and an increased risk of suicide. The pathophysiology of Wolfram syndrome involves endoplasmic reticulum stress and unfolded protein responses, leading to cellular dysfunction and apoptosis. A differential diagnosis includes other genetic and mitochondrial disorders with similar symptoms. Although there is no cure for Wolfram syndrome, careful clinical observation and supportive therapy can help manage the symptoms and improve the quality of life for affected individuals.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139281972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Acute colonic pseudo-obstruction (ACPO), also known as Ogilvie's syndrome, is a rare but potentially life-threatening condition characterized by a large dilation of the colon without any physical blockage. It predominantly affects elderly individuals with multiple underlying health conditions, postoperative patients, and those receiving medications that impact gastrointestinal motility. The exact underlying mechanisms leading to ACPO remain unclear, but it is believed to result from dysfunction in the autonomic neural system, causing impaired colonic motility. Patients with ACPO typically present with symptoms such as abdominal distension, pain, and constipation. The diagnosis of ACPO is established based on clinical assessment, X-ray imaging, and the exclusion of mechanical obstruction. Treatment for ACPO involves promptly identifying and addressing any underlying medical conditions that may contribute to its development, such as correcting electrolyte imbalances or discontinuing medications with gastrointestinal side effects. Non-invasive measures, such as decompressing the colon using a rectal tube or administering a medication called neostigmine, are often effective in relieving symptoms. In refractory cases where conservative measures fail, surgical intervention may be necessary. Despite the rarity of ACPO, its potential for significant morbidity and mortality emphasizes the importance of promptly recognizing and managing the condition. Healthcare providers should exercise caution in patients with risk factors and clinical features suggestive of ACPO. By understanding the pathophysiology and promptly initiating appropriate interventions, healthcare professionals can optimize outcomes and minimize the potential complications associated with ACPO.
{"title":"Acute Colonic Pseudo-Obstruction: A Comprehensive Review","authors":"Tejaswari Sahu, Vaishnavi Devi, Satya Sai Srinivas Allada, Srinivasa Rao Yarguntla","doi":"10.52711/2321-5836.2023.00035","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00035","url":null,"abstract":"Acute colonic pseudo-obstruction (ACPO), also known as Ogilvie's syndrome, is a rare but potentially life-threatening condition characterized by a large dilation of the colon without any physical blockage. It predominantly affects elderly individuals with multiple underlying health conditions, postoperative patients, and those receiving medications that impact gastrointestinal motility. The exact underlying mechanisms leading to ACPO remain unclear, but it is believed to result from dysfunction in the autonomic neural system, causing impaired colonic motility. Patients with ACPO typically present with symptoms such as abdominal distension, pain, and constipation. The diagnosis of ACPO is established based on clinical assessment, X-ray imaging, and the exclusion of mechanical obstruction. Treatment for ACPO involves promptly identifying and addressing any underlying medical conditions that may contribute to its development, such as correcting electrolyte imbalances or discontinuing medications with gastrointestinal side effects. Non-invasive measures, such as decompressing the colon using a rectal tube or administering a medication called neostigmine, are often effective in relieving symptoms. In refractory cases where conservative measures fail, surgical intervention may be necessary. Despite the rarity of ACPO, its potential for significant morbidity and mortality emphasizes the importance of promptly recognizing and managing the condition. Healthcare providers should exercise caution in patients with risk factors and clinical features suggestive of ACPO. By understanding the pathophysiology and promptly initiating appropriate interventions, healthcare professionals can optimize outcomes and minimize the potential complications associated with ACPO.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"55 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139282222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lumpy skin disease (LSD) is an arising viral ailment impacting cows and buffaloes in India. Livestock industry suffers enormous financial damages as a result of lumpy skin disease (LSD). Lumpy skin disease virus (LSDV), a part of the Poxviridae family induces it, along with precursor being Neethling variant. Lumpy skin disease virus belongs to Capripox virus genus, it also contains sheep and goat pox viruses. Lumpy skin ailment is a bovine illness that is enzootic, contagious, eruptive, and infrequently lethal. It is characterised by skin lumps. Cows and buffalo are the sole impacted types of animals, with substantial morbidity yet lower fatality levels; although, calves die at a greater rate. Lumpy skin disease lowers milk and meat output, induces female miscarriages, and promotes male impotency. Skin nodules all over the body, fever, lachraimal discharge, nasal discharge, anorexia, decreased milk yield, emaciation, depression, and reluctance to move are all major clinical signs. LSD's origins can be traced back to 1929 in Zambia. Lumpy skin disease is regarded an indigenous illness in the African continent. However, around 1984, this disease spread beyond Africa. It has been reported in Madagascar as well as some Middle Eastern countries and Arabian Peninsula. This sickness has lately been documented in regions where lumpy skin ailment is not available (Syria, Lebanon, Iran, Turkey, and Iraq, Jordan), posing a financial risk to the livestock industry. After the earliest case of lumpy skin ailment was reported in India, it has spread rapidly throughout the country, posing a risk to the cattle and buffalo populations of productivity and mortality.
{"title":"Lumpy Skin Disease, an Emerging Transboundary Viral Disease in Animal’s: A Review","authors":"Madhu Bala, Savita Savita, Neha Sharma, Avantika Dadwal, Abhinay Abhinay, Mohita Thakur","doi":"10.52711/2321-5836.2023.00034","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00034","url":null,"abstract":"Lumpy skin disease (LSD) is an arising viral ailment impacting cows and buffaloes in India. Livestock industry suffers enormous financial damages as a result of lumpy skin disease (LSD). Lumpy skin disease virus (LSDV), a part of the Poxviridae family induces it, along with precursor being Neethling variant. Lumpy skin disease virus belongs to Capripox virus genus, it also contains sheep and goat pox viruses. Lumpy skin ailment is a bovine illness that is enzootic, contagious, eruptive, and infrequently lethal. It is characterised by skin lumps. Cows and buffalo are the sole impacted types of animals, with substantial morbidity yet lower fatality levels; although, calves die at a greater rate. Lumpy skin disease lowers milk and meat output, induces female miscarriages, and promotes male impotency. Skin nodules all over the body, fever, lachraimal discharge, nasal discharge, anorexia, decreased milk yield, emaciation, depression, and reluctance to move are all major clinical signs. LSD's origins can be traced back to 1929 in Zambia. Lumpy skin disease is regarded an indigenous illness in the African continent. However, around 1984, this disease spread beyond Africa. It has been reported in Madagascar as well as some Middle Eastern countries and Arabian Peninsula. This sickness has lately been documented in regions where lumpy skin ailment is not available (Syria, Lebanon, Iran, Turkey, and Iraq, Jordan), posing a financial risk to the livestock industry. After the earliest case of lumpy skin ailment was reported in India, it has spread rapidly throughout the country, posing a risk to the cattle and buffalo populations of productivity and mortality.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"46 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139281883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The precise effects of sex on the effects of various drugs are still unknown, even though sex-specific variations in various medications are well documented. It is not uncommon for women and men to react differently to different medications due to differences in their body composition, physiology, and drug pharmacokinetics (A, D, M, E), as well as pharmacodynamics. These differences include hormonal effects during the menstrual cycle, pregnancy, and menopause. The underrepresentation of women in clinical trials, which is a significant obstacle to the optimisation of medicines for women of all ages, directly contributes to the underuse of evidence-based medications. As an added bonus, women experience greater side effects from drugs than men do. Thus, the majority of trials that were performed on middle-aged men were used to develop current recommendations for disease prevention, diagnosis, and medical treatment. To improve the safety and effectiveness of different medications as well as to create appropriate, individualized treatment plans for both males and females, it is greatly essential to understand the sex-related differences. In order to better understand the gender-based variations in the efficacy and safety of various medicines, this review gives a brief summary of the pharmacokinetics and pharmacodynamics of many drugs, organized by gender.
{"title":"Sex-based Differences in the Pharmacokinetic and Pharmacodynamic activity of different Drugs","authors":"Rohan Pal, Ritam Ghosh, Banibrata Acharyya, Rajat Subhra Saha, Sudipta Dey, Arpita Nandy, Arin Bhattacharjee","doi":"10.52711/2321-5836.2023.00032","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00032","url":null,"abstract":"The precise effects of sex on the effects of various drugs are still unknown, even though sex-specific variations in various medications are well documented. It is not uncommon for women and men to react differently to different medications due to differences in their body composition, physiology, and drug pharmacokinetics (A, D, M, E), as well as pharmacodynamics. These differences include hormonal effects during the menstrual cycle, pregnancy, and menopause. The underrepresentation of women in clinical trials, which is a significant obstacle to the optimisation of medicines for women of all ages, directly contributes to the underuse of evidence-based medications. As an added bonus, women experience greater side effects from drugs than men do. Thus, the majority of trials that were performed on middle-aged men were used to develop current recommendations for disease prevention, diagnosis, and medical treatment. To improve the safety and effectiveness of different medications as well as to create appropriate, individualized treatment plans for both males and females, it is greatly essential to understand the sex-related differences. In order to better understand the gender-based variations in the efficacy and safety of various medicines, this review gives a brief summary of the pharmacokinetics and pharmacodynamics of many drugs, organized by gender.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139281993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-09DOI: 10.52711/2321-5836.2023.00030
R. Santhoshkumar, K. R. Sathyaramanan, N. Venkateswaramurthy
This review article focuses on the post-COVID symptoms and Multisystem Inflammatory Syndrome in Children (MIS-C) observed in India. The study sheds light on the various clinical characteristics and outcomes associated with these conditions by examining available literature and data. The findings highlight the diverse range of symptoms experienced by children, including fever, gastrointestinal and respiratory manifestations, and skin rash. Additionally, rare observations such as HSP-like rash, gangrene, and arthritis were noted. The severity of MIS-C is evident, with a significant proportion of children experiencing shock and requiring mechanical ventilation. However, the review also emphasizes the favorable outcomes observed among children without preexisting comorbidities, indicating the potential for recovery in these cases. The review also provides reassuring findings regarding coronary outcomes during follow-up. This review underscores the urgent need for ongoing research, surveillance, and effective management strategies to address the long-term implications of post-COVID symptoms and MIS-C in Indian children. The insights presented in this article contribute to a better understanding of the impact of MIS-C and inform future strategies to mitigate its effects on the health and well-being of affected children in India.
{"title":"Post-COVID Symptoms and Multisystem Inflammatory Syndrome in Children (MIS-C) in India: A Review","authors":"R. Santhoshkumar, K. R. Sathyaramanan, N. Venkateswaramurthy","doi":"10.52711/2321-5836.2023.00030","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00030","url":null,"abstract":"This review article focuses on the post-COVID symptoms and Multisystem Inflammatory Syndrome in Children (MIS-C) observed in India. The study sheds light on the various clinical characteristics and outcomes associated with these conditions by examining available literature and data. The findings highlight the diverse range of symptoms experienced by children, including fever, gastrointestinal and respiratory manifestations, and skin rash. Additionally, rare observations such as HSP-like rash, gangrene, and arthritis were noted. The severity of MIS-C is evident, with a significant proportion of children experiencing shock and requiring mechanical ventilation. However, the review also emphasizes the favorable outcomes observed among children without preexisting comorbidities, indicating the potential for recovery in these cases. The review also provides reassuring findings regarding coronary outcomes during follow-up. This review underscores the urgent need for ongoing research, surveillance, and effective management strategies to address the long-term implications of post-COVID symptoms and MIS-C in Indian children. The insights presented in this article contribute to a better understanding of the impact of MIS-C and inform future strategies to mitigate its effects on the health and well-being of affected children in India.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"41 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139282355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Coats disease is an attenuate ocular vasculopathy illustrated by the accumulation of fluid in the intra-retinal along subretinal space, primarily affecting young males. Although the underlying cause of the disease remains unknown, research has made significant progress in understanding its prevalence, morphology, patient variables, and history. Diagnosis can be challenging, but a range of imaging techniques, including optical coherence tomography (OCT), OCT angiography, ultrasonography, fluorescein angiography, Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) can assist in differential diagnosis and management. Mutations in the norrin deficiency protein (NDP) gene, causing norrin deficiency, are linked to the disorder, with the high male-to-female ratio due to incomplete X-inactivation in females. New therapeutic options, including investigational and standard therapies, have been developed, with ranibizumab showing promising results in previous studies. Standard therapies include cryotherapy, laser photocoagulation, and intravitreal steroids and/or vascular endothelial growth factor (VEGF) injections. Surgical intervention is recommended for retinal detachment (stage 3A or above), with asymptomatic, blind, and depressed stage 5 Coats patients monitored but not requiring treatment. Further research is needed to develop more effective treatments and improve patient outcomes.
{"title":"A Rare Condition: The Impact of Coats Disease on Vision","authors":"Haritha Sai Vidhya Bollamreddy, Ashmitha Tammineni, Vinod Kumar Mugada, Srinivasa Rao Yarguntla","doi":"10.52711/2321-5836.2023.00038","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00038","url":null,"abstract":"Coats disease is an attenuate ocular vasculopathy illustrated by the accumulation of fluid in the intra-retinal along subretinal space, primarily affecting young males. Although the underlying cause of the disease remains unknown, research has made significant progress in understanding its prevalence, morphology, patient variables, and history. Diagnosis can be challenging, but a range of imaging techniques, including optical coherence tomography (OCT), OCT angiography, ultrasonography, fluorescein angiography, Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) can assist in differential diagnosis and management. Mutations in the norrin deficiency protein (NDP) gene, causing norrin deficiency, are linked to the disorder, with the high male-to-female ratio due to incomplete X-inactivation in females. New therapeutic options, including investigational and standard therapies, have been developed, with ranibizumab showing promising results in previous studies. Standard therapies include cryotherapy, laser photocoagulation, and intravitreal steroids and/or vascular endothelial growth factor (VEGF) injections. Surgical intervention is recommended for retinal detachment (stage 3A or above), with asymptomatic, blind, and depressed stage 5 Coats patients monitored but not requiring treatment. Further research is needed to develop more effective treatments and improve patient outcomes.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"65 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139282408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-09DOI: 10.52711/2321-5836.2023.00029
Satya Sai Sri Narava, Sowmya Kucherlapati, Vinod Kumar Mugada, Srinivasa Rao Yarguntla
Rett syndrome is a neurodevelopmental disorder primarily affecting females, characterised by slowed growth, developmental regression, loss of fine motor skills, communication difficulties, and stereotypical hand movements. It is strongly associated with mutations in the MECP2 gene, while other variations have been linked to FOXG1 and CDKL5 mutations. This review provides an in-depth understanding of Rett syndrome, including its causes, symptoms, and available treatments. The epidemiology of Rett syndrome indicates a varying prevalence across different regions. Males with Rett syndrome, though rare, have been reported. The aetiology of Rett syndrome involves MECP2 mutations that lead to functional loss, affecting synapse development and maintenance. Mitochondrial dysfunction and oxidative stress have also been implicated in the disorder. Neuropathological findings reveal specific abnormalities in various brain regions. The symptoms of Rett syndrome include slowed head growth, abnormal gait, loss of intentional hand movements, breathing difficulties, and loss of speech. Complications such as metabolic issues, epilepsy, scoliosis, and gastrointestinal dysfunction are common. The diagnosis relies on clinical criteria and genetic testing for MECP2 mutations. Treatment for Rett syndrome is symptomatic and includes individualised rehabilitation therapies such as physical therapy, applied behaviour analysis, environmental enrichment, hydrotherapy, and music therapy. The review emphasises the importance of early intervention and family involvement in rehabilitation programmes.
{"title":"A Review on Rett Syndrome: A Debilitating Neurodevelopmental Disorder","authors":"Satya Sai Sri Narava, Sowmya Kucherlapati, Vinod Kumar Mugada, Srinivasa Rao Yarguntla","doi":"10.52711/2321-5836.2023.00029","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00029","url":null,"abstract":"Rett syndrome is a neurodevelopmental disorder primarily affecting females, characterised by slowed growth, developmental regression, loss of fine motor skills, communication difficulties, and stereotypical hand movements. It is strongly associated with mutations in the MECP2 gene, while other variations have been linked to FOXG1 and CDKL5 mutations. This review provides an in-depth understanding of Rett syndrome, including its causes, symptoms, and available treatments. The epidemiology of Rett syndrome indicates a varying prevalence across different regions. Males with Rett syndrome, though rare, have been reported. The aetiology of Rett syndrome involves MECP2 mutations that lead to functional loss, affecting synapse development and maintenance. Mitochondrial dysfunction and oxidative stress have also been implicated in the disorder. Neuropathological findings reveal specific abnormalities in various brain regions. The symptoms of Rett syndrome include slowed head growth, abnormal gait, loss of intentional hand movements, breathing difficulties, and loss of speech. Complications such as metabolic issues, epilepsy, scoliosis, and gastrointestinal dysfunction are common. The diagnosis relies on clinical criteria and genetic testing for MECP2 mutations. Treatment for Rett syndrome is symptomatic and includes individualised rehabilitation therapies such as physical therapy, applied behaviour analysis, environmental enrichment, hydrotherapy, and music therapy. The review emphasises the importance of early intervention and family involvement in rehabilitation programmes.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139281760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kallmann syndrome (KS) is an uncommon disorder that was first defined in 1856 and designed by Kallmann in 1944. It is also referred to as olfactogenital dysplasia and is characterized by hypogonadism and the agenesis of the olfactory bulb. The prevalence of KS is not well understood, with the incidence in males ranging from 1 in 8000 to 1 in 10,000 and being less common in females. Kallmann syndrome exhibits genetic heterogeneity, with the inheritance of the trait occurring in an autosomal recessive, autosomal dominant, or X-linked manner. Over 24 genes have been determined to be responsible for Kallmann syndrome, which is thought to be caused by mutations that inhibit the formation of cell markers necessary for the migration of olfactory and GnRH (gonadotropin-releasing hormone) neurons to the forebrain during foetal development. Kallmann syndrome is characterised by hypogonadotropic hypogonadism and hyposmia or anosmia. Other less common symptoms include osteoporosis, cleft lip and palate, cryptorchidism, unilateral renal agenesis, and cardiovascular problems. Magnetic resonance imaging (MRI) can help detect anomalies in the olfactory system and other forebrain regions, as well as pituitary disorders. The treatment for Kallmann syndrome typically involves hormone replacement therapy (HRT) with both testosterone and gonadotropin-releasing hormone (GnRH) analogues to stimulate puberty and promote secondary sexual characteristics.
{"title":"Facing the Challenge: Hormonal hurdles, Olfaction Obstacles in Kallmann Syndrome","authors":"Gayatri Made, Jyothi Swapna Raparthi, Vinod Kumar Mugada, Srinivasa Rao Yarguntla","doi":"10.52711/2321-5836.2023.00037","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00037","url":null,"abstract":"Kallmann syndrome (KS) is an uncommon disorder that was first defined in 1856 and designed by Kallmann in 1944. It is also referred to as olfactogenital dysplasia and is characterized by hypogonadism and the agenesis of the olfactory bulb. The prevalence of KS is not well understood, with the incidence in males ranging from 1 in 8000 to 1 in 10,000 and being less common in females. Kallmann syndrome exhibits genetic heterogeneity, with the inheritance of the trait occurring in an autosomal recessive, autosomal dominant, or X-linked manner. Over 24 genes have been determined to be responsible for Kallmann syndrome, which is thought to be caused by mutations that inhibit the formation of cell markers necessary for the migration of olfactory and GnRH (gonadotropin-releasing hormone) neurons to the forebrain during foetal development. Kallmann syndrome is characterised by hypogonadotropic hypogonadism and hyposmia or anosmia. Other less common symptoms include osteoporosis, cleft lip and palate, cryptorchidism, unilateral renal agenesis, and cardiovascular problems. Magnetic resonance imaging (MRI) can help detect anomalies in the olfactory system and other forebrain regions, as well as pituitary disorders. The treatment for Kallmann syndrome typically involves hormone replacement therapy (HRT) with both testosterone and gonadotropin-releasing hormone (GnRH) analogues to stimulate puberty and promote secondary sexual characteristics.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"123 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139281708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PDB is a long-standing pathological stateillustrated by aberrant bone remodeling and metabolism arising in structural anomalies of the bone tissue. While this disease may remain asymptomatic, mild symptoms such as joint and bone discomfort may be present. However, an early warning sign is intense nocturnal bone pain. Moreover, PDB may result in complications such as deafness, fractures, compression of cranial nerves or the spinal cord, and hydrocephalus. This disease is more frequently observed in individuals above the age of 50, affecting individuals of all races and ethnicities, with a slightly higher prevalence in males. Diagnosis of PDB involves comprehensive clinical assessment, patient history, and specialized tests. Pharmacological treatments such as bisphosphonates, calcitonin, and surgical intervention may be employed to manage the disease. Supplementation is essential to prevent hypocalcemia. PDB may lead to rare complications, including sarcomatous conversion of the pagetic lesion and high-output congestive heart failure which concerns healthcare professionals.
{"title":"A Comprehensive Guide to Paget’s Disease of Bone","authors":"Sanjay Kumar Chintakayala, Aalekhya Ravipati, Vinod Kumar Mugada, Srinivasa Rao Yarguntla","doi":"10.52711/2321-5836.2023.00033","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00033","url":null,"abstract":"PDB is a long-standing pathological stateillustrated by aberrant bone remodeling and metabolism arising in structural anomalies of the bone tissue. While this disease may remain asymptomatic, mild symptoms such as joint and bone discomfort may be present. However, an early warning sign is intense nocturnal bone pain. Moreover, PDB may result in complications such as deafness, fractures, compression of cranial nerves or the spinal cord, and hydrocephalus. This disease is more frequently observed in individuals above the age of 50, affecting individuals of all races and ethnicities, with a slightly higher prevalence in males. Diagnosis of PDB involves comprehensive clinical assessment, patient history, and specialized tests. Pharmacological treatments such as bisphosphonates, calcitonin, and surgical intervention may be employed to manage the disease. Supplementation is essential to prevent hypocalcemia. PDB may lead to rare complications, including sarcomatous conversion of the pagetic lesion and high-output congestive heart failure which concerns healthcare professionals.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139281714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
After being identified as a Paramyxoviridae member in 1999, NiV has been linked to encephalitis epidemics in Bangladesh, Malaysia, Singapore, the Philippines, and India. NiV has a case-fatality rate of 100% and can cause fever encephalitis and severe respiratory disease in people. In addition to supportive care, there are no authorised vaccinations or therapies. Histopathology, IgG/IgM/antigen ELISA, immunofluorescence assay, nucleic acid amplification testing (NAAT), viral isolation, and neutralisation testing are among the laboratory tests used to detect NiV. According to research done with thermal sensors, P. giganteus bats use date palm sap plants and consume the sap as it is being gathered. Nipah virus is believed to be the next pandemic agent, and Corona virus safety measures have helped to reduce its spread in Kerala. It is a respiratory illness that does not cause loss of taste or smell, but has a high death rate (40-45%). NiV patients have highest infectious potential during symptomatic phases, and exposure to the bodily fluids of infected individuals appears to be a viable route for human-to-human transmission. NiV epidemics are highly effective due to their rapid transmission through nosocomial and zoonotic mechanisms. Ribavirin was considered as the first antiviral medication which is used in the treatment of NiV, but ribavirin decreased mortality toll by 36%. Clinical studies with the purine analogue favipirivir (T-705) blocking RNA-dependent RNA polymerase have been conducted for the treatment of Ebola, and different influenza antiviral medications have also demonstrated effectiveness against NiV in Syrian hamster animal models. Preclinical research has demonstrated full protection.
{"title":"A Comprehensive Review on Nipah Virus Infection: Classification, Epidemiology, Treatment and Prevention","authors":"Avantika Dhadwal, Ankita Rana, Sakshi Sharma, Gaurav Bhardwaj","doi":"10.52711/2321-5836.2023.00039","DOIUrl":"https://doi.org/10.52711/2321-5836.2023.00039","url":null,"abstract":"After being identified as a Paramyxoviridae member in 1999, NiV has been linked to encephalitis epidemics in Bangladesh, Malaysia, Singapore, the Philippines, and India. NiV has a case-fatality rate of 100% and can cause fever encephalitis and severe respiratory disease in people. In addition to supportive care, there are no authorised vaccinations or therapies. Histopathology, IgG/IgM/antigen ELISA, immunofluorescence assay, nucleic acid amplification testing (NAAT), viral isolation, and neutralisation testing are among the laboratory tests used to detect NiV. According to research done with thermal sensors, P. giganteus bats use date palm sap plants and consume the sap as it is being gathered. Nipah virus is believed to be the next pandemic agent, and Corona virus safety measures have helped to reduce its spread in Kerala. It is a respiratory illness that does not cause loss of taste or smell, but has a high death rate (40-45%). NiV patients have highest infectious potential during symptomatic phases, and exposure to the bodily fluids of infected individuals appears to be a viable route for human-to-human transmission. NiV epidemics are highly effective due to their rapid transmission through nosocomial and zoonotic mechanisms. Ribavirin was considered as the first antiviral medication which is used in the treatment of NiV, but ribavirin decreased mortality toll by 36%. Clinical studies with the purine analogue favipirivir (T-705) blocking RNA-dependent RNA polymerase have been conducted for the treatment of Ebola, and different influenza antiviral medications have also demonstrated effectiveness against NiV in Syrian hamster animal models. Preclinical research has demonstrated full protection.","PeriodicalId":20945,"journal":{"name":"Research Journal of Pharmacology and Pharmacodynamics","volume":"54 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139282024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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