Pub Date : 2025-02-01DOI: 10.1016/j.disamonth.2025.101863
Neel Vora, Parth Patel, Mohammed Dheyaa Marsool Marsool, Ali Dheyaa Marsool Marsool, Rayyan Sunasra, Parva Ladani, Shefali Pati, Dhruvi Khoont, Priyadarshi Prajjwal, Raunak Ranjan
Alzheimer's disease is a progressive neurodegenerative disorder that primarily affects the elderly population; and is characterized by the gradual loss of memory, cognition, and ability to carry out daily activities. However, a growing body of research indicates that there exists a subtype of Alzheimer's disease known as Atypical Alzheimer's disease. Atypical Alzheimer's disease is a rare form of dementia that differs from the typical presentation of Alzheimer's disease, such as variations in the age of onset, distribution of brain pathology, and clinical symptoms. The patients affected have a younger age of onset and have predominantly visual, language, executive function, motor, and behavioral dysfunction. The diagnosis requires a comprehensive neurological evaluation with specific attention to cognitive and behavioral changes while ruling out other potential causes of dementia. Emerging biomarkers including CSF profiles, amyloid and tau PET imaging, and advanced neuroimaging techniques offer promising avenues for improving diagnostic accuracy and understanding disease mechanisms. In this article, we focus on atypical presentations seen in the posterior cortical variant, frontal variant, progressive aphasic variant, corticobasal syndrome and look at the specific biomarkers used in the diagnosis of each variant along with focusing on the treatment of the disease. We also aim to provide an understanding of Atypical Alzheimer's disease, its clinical features, the biomarkers helping in diagnosing the disease, the current treatment guidelines, and the current scientific advancements in the field.
{"title":"Atypical Alzheimer's dementia: Addressing the subtypes, epidemiology, atypical presentations, diagnostic biomarkers, and treatment updates.","authors":"Neel Vora, Parth Patel, Mohammed Dheyaa Marsool Marsool, Ali Dheyaa Marsool Marsool, Rayyan Sunasra, Parva Ladani, Shefali Pati, Dhruvi Khoont, Priyadarshi Prajjwal, Raunak Ranjan","doi":"10.1016/j.disamonth.2025.101863","DOIUrl":"https://doi.org/10.1016/j.disamonth.2025.101863","url":null,"abstract":"<p><p>Alzheimer's disease is a progressive neurodegenerative disorder that primarily affects the elderly population; and is characterized by the gradual loss of memory, cognition, and ability to carry out daily activities. However, a growing body of research indicates that there exists a subtype of Alzheimer's disease known as Atypical Alzheimer's disease. Atypical Alzheimer's disease is a rare form of dementia that differs from the typical presentation of Alzheimer's disease, such as variations in the age of onset, distribution of brain pathology, and clinical symptoms. The patients affected have a younger age of onset and have predominantly visual, language, executive function, motor, and behavioral dysfunction. The diagnosis requires a comprehensive neurological evaluation with specific attention to cognitive and behavioral changes while ruling out other potential causes of dementia. Emerging biomarkers including CSF profiles, amyloid and tau PET imaging, and advanced neuroimaging techniques offer promising avenues for improving diagnostic accuracy and understanding disease mechanisms. In this article, we focus on atypical presentations seen in the posterior cortical variant, frontal variant, progressive aphasic variant, corticobasal syndrome and look at the specific biomarkers used in the diagnosis of each variant along with focusing on the treatment of the disease. We also aim to provide an understanding of Atypical Alzheimer's disease, its clinical features, the biomarkers helping in diagnosing the disease, the current treatment guidelines, and the current scientific advancements in the field.</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101863"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.disamonth.2024.101846
Jerrold B. Leikin MD (Senior Editor)
{"title":"Foreword for Erdheim-Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances","authors":"Jerrold B. Leikin MD (Senior Editor)","doi":"10.1016/j.disamonth.2024.101846","DOIUrl":"10.1016/j.disamonth.2024.101846","url":null,"abstract":"","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":"71 2","pages":"Article 101846"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.disamonth.2024.101845
Rishabh Chaudhary MS , Anand Kumar PhD , Alpana Singh BS , Vipul Agarwal PhD , Mujeeba Rehman MS , Arjun Singh Kaushik MS , Siddhi Srivastava MS , Sukriti Srivastava MS , Vikas Mishra PhD
Erdheim–Chester disease (ECD) is an extremely rare non-Langerhans cell disorder that is believed to include both inflammatory and neoplastic characteristics. It is caused due to genetic mutations in proto-oncogenes like BRAF and MEK, while immunological pathways have an essential role in the onset and progression of the disease. Despite its rarity, ECD poses significant diagnostic and therapeutic challenges due to its heterogeneous clinical presentation and limited understanding of its underlying pathophysiology. Multiple organs can be affected, with the most frequent being long bones, central nervous system and retro-orbital abnormalities, pericardial and myocardial infiltration, interstitial lung disease, retroperitoneal fibrosis, and large blood vessel aberrations. Here, in this review, we comprehensively underline the current knowledge of ECD, including its epidemiology, clinical manifestations, genetics, pathophysiology, diagnostic modalities, and treatment options. By synthesizing existing literature and highlighting areas of ongoing research, this review aims to provide clinicians and researchers with a comprehensive understanding of ECD and guide future directions for improved patient care and outcomes.
{"title":"Erdheim–Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances","authors":"Rishabh Chaudhary MS , Anand Kumar PhD , Alpana Singh BS , Vipul Agarwal PhD , Mujeeba Rehman MS , Arjun Singh Kaushik MS , Siddhi Srivastava MS , Sukriti Srivastava MS , Vikas Mishra PhD","doi":"10.1016/j.disamonth.2024.101845","DOIUrl":"10.1016/j.disamonth.2024.101845","url":null,"abstract":"<div><div>Erdheim–Chester disease (ECD) is an extremely rare non-Langerhans cell disorder that is believed to include both inflammatory and neoplastic characteristics. It is caused due to genetic mutations in proto-oncogenes like BRAF and MEK, while immunological pathways have an essential role in the onset and progression of the disease. Despite its rarity, ECD poses significant diagnostic and therapeutic challenges due to its heterogeneous clinical presentation and limited understanding of its underlying pathophysiology. Multiple organs can be affected, with the most frequent being long bones, central nervous system and retro-orbital abnormalities, pericardial and myocardial infiltration, interstitial lung disease, retroperitoneal fibrosis, and large blood vessel aberrations. Here, in this review, we comprehensively underline the current knowledge of ECD, including its epidemiology, clinical manifestations, genetics, pathophysiology, diagnostic modalities, and treatment options. By synthesizing existing literature and highlighting areas of ongoing research, this review aims to provide clinicians and researchers with a comprehensive understanding of ECD and guide future directions for improved patient care and outcomes.</div></div>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":"71 2","pages":"Article 101845"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-28DOI: 10.1016/j.disamonth.2024.101850
Nancy Friedman, Ross Friedman
{"title":"Foreword: Ecstasy, Molly, MDMA: What health practitioners need to know about this common recreational drug.","authors":"Nancy Friedman, Ross Friedman","doi":"10.1016/j.disamonth.2024.101850","DOIUrl":"https://doi.org/10.1016/j.disamonth.2024.101850","url":null,"abstract":"","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101850"},"PeriodicalIF":3.8,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-16DOI: 10.1016/j.disamonth.2025.101852
Jerrold B Leikin
{"title":"Foreword: Hallucinogenic amphetamine, cannabis and opioid issues for the primary care practitioner.","authors":"Jerrold B Leikin","doi":"10.1016/j.disamonth.2025.101852","DOIUrl":"https://doi.org/10.1016/j.disamonth.2025.101852","url":null,"abstract":"","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101852"},"PeriodicalIF":3.8,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-14DOI: 10.1016/j.disamonth.2024.101851
Andrew M Farrar, Isabelle H Nordstrom, Kaitlyn Shelley, Gayane Archer, Kaitlyn N Kunstman, Joseph J Palamar
3,4-methylenedioxymethamphetamine (MDMA; commonly referred to as "ecstasy" or "molly") is a substituted amphetamine drug that is used recreationally for its acute psychoactive effects, including euphoria and increased energy, as well as prosocial effects such as increased empathy and feelings of closeness with others. Acute adverse effects can include hyperthermia, dehydration, bruxism, and diaphoresis. Post-intoxication phenomena may include insomnia, anhedonia, anxiety, depression, and memory impairment, which can persist for days following drug cessation. MDMA acts as a releasing agent for monoamine neurotransmitters, including dopamine (DA), norepinephrine (NE) and serotonin (5-HT), by interfering with vesicular storage and transporter function, thus increasing extracellular levels of DA, NE, and 5-HT. Medical intervention in response to adverse events is complicated by the fact that illicitly-acquired MDMA is frequently adulterated, contaminated, or outright replaced with other psychoactive drugs such as synthetic cathinones ("bath salts") or methamphetamine, often unknown to the person using the drug. This review provides background on the legal status of MDMA and its use patterns, including proposals for its use as an adjunct in psychotherapy. It also discusses the pharmacological properties, mental and physical health effects, and interactions of MDMA with other drugs, with special focus on harm reduction strategies. This information will help healthcare providers assess adverse health effects related to MDMA/ecstasy use in order to facilitate appropriate treatment strategies and improve patient outcomes.
{"title":"Ecstasy, molly, MDMA: What health practitioners need to know about this common recreational drug.","authors":"Andrew M Farrar, Isabelle H Nordstrom, Kaitlyn Shelley, Gayane Archer, Kaitlyn N Kunstman, Joseph J Palamar","doi":"10.1016/j.disamonth.2024.101851","DOIUrl":"https://doi.org/10.1016/j.disamonth.2024.101851","url":null,"abstract":"<p><p>3,4-methylenedioxymethamphetamine (MDMA; commonly referred to as \"ecstasy\" or \"molly\") is a substituted amphetamine drug that is used recreationally for its acute psychoactive effects, including euphoria and increased energy, as well as prosocial effects such as increased empathy and feelings of closeness with others. Acute adverse effects can include hyperthermia, dehydration, bruxism, and diaphoresis. Post-intoxication phenomena may include insomnia, anhedonia, anxiety, depression, and memory impairment, which can persist for days following drug cessation. MDMA acts as a releasing agent for monoamine neurotransmitters, including dopamine (DA), norepinephrine (NE) and serotonin (5-HT), by interfering with vesicular storage and transporter function, thus increasing extracellular levels of DA, NE, and 5-HT. Medical intervention in response to adverse events is complicated by the fact that illicitly-acquired MDMA is frequently adulterated, contaminated, or outright replaced with other psychoactive drugs such as synthetic cathinones (\"bath salts\") or methamphetamine, often unknown to the person using the drug. This review provides background on the legal status of MDMA and its use patterns, including proposals for its use as an adjunct in psychotherapy. It also discusses the pharmacological properties, mental and physical health effects, and interactions of MDMA with other drugs, with special focus on harm reduction strategies. This information will help healthcare providers assess adverse health effects related to MDMA/ecstasy use in order to facilitate appropriate treatment strategies and improve patient outcomes.</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101851"},"PeriodicalIF":3.8,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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