Journal of Investigative Medicine最新文献_第3页

Association between magnesium deficiency score and anemia in older Americans: A cross-sectional study. 快讯美国老年人镁消耗评分与贫血之间的关系：一项横断面研究。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-09-18 DOI: 10.1177/10815589241280857

Xue Liu, Yonggang Fan

{"title":"Association between magnesium deficiency score and anemia in older Americans: A cross-sectional study.","authors":"Xue Liu, Yonggang Fan","doi":"10.1177/10815589241280857","DOIUrl":"10.1177/10815589241280857","url":null,"abstract":"Some studies have indicated an association between serum magnesium and anemia, but these are primarily limited to research on serum magnesium. Few studies have explored the relationship between the bioavailability of magnesium and anemia. This study explores the association between the Magnesium Deficiency Score (MDS) and anemia among elderly Americans using data from the National Health and Nutrition Examination Survey (NHANES) 2009-2018. Anemia was defined based on World Health Organization criteria, and MDS was calculated considering factors such as the use of diuretics, proton-pump inhibitors, alcohol consumption, and renal function status. A total of 3383 individuals were included in our study. Results showed a positive correlation between MDS and anemia, with higher MDS levels associated with increased anemia prevalence. Subgroup analyses revealed that this association was consistent across different genders, poverty income ratio, and smoking populations, with a notably strong correlation in the non-Hispanic White group. The study suggests that improving the bioavailability of magnesium to reduce MDS may be a factor in preventing anemia in the elderly. This is the first study to explore the relationship between MDS and anemia in this population, highlighting the potential role of magnesium bioavailability in anemia prevention. Further prospective studies are needed to confirm these results and explore the underlying mechanisms.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"938-946"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Soluble Fms-like tyrosine kinase-1 as an endothelial dysfunction biomarker associated with pulmonary hypertension in adult patients with beta-thalassemia major. 表达：可溶性 Fms 样酪氨酸激酶-1 作为与重型β-地中海贫血成人患者肺动脉高压有关的内皮功能障碍生物标志物》（Soluble Fms-Like Tyrosine Kinase-1 as an Endothelial Dysfunction Biomarker associated with Pulmonary Hypertension in Adult Patients with Beta-Thalassemia Major）。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-19 DOI: 10.1177/10815589241270616

Samah Fathy Abozeid, Rasha A Elkholy, Tamer A Elbedewy, Mahmoud Farouk Seliem

{"title":"Soluble Fms-like tyrosine kinase-1 as an endothelial dysfunction biomarker associated with pulmonary hypertension in adult patients with beta-thalassemia major.","authors":"Samah Fathy Abozeid, Rasha A Elkholy, Tamer A Elbedewy, Mahmoud Farouk Seliem","doi":"10.1177/10815589241270616","DOIUrl":"10.1177/10815589241270616","url":null,"abstract":"The etiology of vascular problems in beta-thalassemia has been linked to endothelial damage. Antiangiogenic proteins such as soluble Fms-like tyrosine kinase-1 (sFLT-1) inhibit the signaling of vascular endothelial growth factor and placental growth factor, resulting in a decrease in the development of new blood vessels. Additionally, they promote the maturation of existing blood vessels and lead to endothelial dysfunction. This study aimed to assess the role of sFLT-1 in adult patients with beta-thalassemia major (TM) as a biomarker of endothelial dysfunction and its association with pulmonary hypertension (PHT). A total of 90 subjects were recruited and categorized into two groups: 45 patients with beta-TM, who were further divided based on the presence or absence of PHT, and 45 healthy individuals served as a control group. Serum sFLT-1 was determined using the enzyme-linked immunosorbent assay technique. The results revealed that Beta-TM patients had higher sFLT-1 levels than the control group. In addition, patients with PHT had significantly higher sFLT-1 levels compared to those without PHT. The levels of sFLT-1 were positively correlated with von Willebrand factor, serum ferritin, and high-sensitivity C-reactive protein. Regression analyses demonstrated a significant association between high sFLT-1 levels and the occurrence of PHT. Additionally, sFLT-1 (at a cutoff value of 8.84 pg/mL) demonstrated a sensitivity of 83.30% and a specificity of 80.0% in diagnosing thalassemic patients with PHT. In conclusion, beta-TM patients with elevated serum levels of sFLT-1 are at risk of developing endothelial dysfunction and subsequent development of PHT.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"883-890"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Acute respiratory distress syndrome: A review of ARDS across the life course. 快讯急性呼吸窘迫综合征：回顾整个生命过程中的 ARDS。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-28 DOI: 10.1177/10815589241270612

Caleb Cave, Dannielle Samano, Abhineet M Sharma, John Dickinson, Jeffrey Salomon, Sidharth Mahapatra

{"title":"Acute respiratory distress syndrome: A review of ARDS across the life course.","authors":"Caleb Cave, Dannielle Samano, Abhineet M Sharma, John Dickinson, Jeffrey Salomon, Sidharth Mahapatra","doi":"10.1177/10815589241270612","DOIUrl":"10.1177/10815589241270612","url":null,"abstract":"Acute respiratory distress syndrome (ARDS) is a multifactorial, inflammatory lung disease with significant morbidity and mortality that predominantly requires supportive care in its management. Although initially described in adult patients, the diagnostic definitions for ARDS have evolved over time to accurately describe this disease process in pediatric and, more recently, neonatal patients. The management of ARDS in each age demographic has converged in the application of lung-protective ventilatory strategies to mitigate the primary disease process and prevent its exacerbation by limiting ventilator-induced lung injury. However, differences arise in the preferred ventilatory strategies or adjunctive pulmonary therapies used to mitigate each type of ARDS. In this review, we compare and contrast the epidemiology, common etiologies, pathophysiology, diagnostic criteria, and outcomes of ARDS across the lifespan. Additionally, we discuss in detail the different management strategies used for each subtype of ARDS and spotlight how these strategies were applied to mitigate poor outcomes during the COVID-19 pandemic. This review is geared toward both clinicians and clinician-scientists as it not only summarizes the latest information on disease pathogenesis and patient management in ARDS across the lifespan but also highlights knowledge gaps for further investigative efforts. We conclude by projecting how future studies can fill these gaps in research and what improvements may be envisioned in the management of NARDS and PARDS based on the current breadth of literature on adult ARDS treatment strategies.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"798-818"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring the association of ADAM17 expression with survival in patients with non-small cell lung cancer. EXPRESS：探索 Adam17 表达与非小细胞肺癌患者生存的关系。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-28 DOI: 10.1177/10815589241270543

Ozge Ozgun, Seda Duman Ozturk, Cigdem Vural, Aysegul Ucuncu Kefeli, Sibel Balci, Devrim Cabuk, Kazim Uygun, Umut Kefeli

{"title":"Exploring the association of ADAM17 expression with survival in patients with non-small cell lung cancer.","authors":"Ozge Ozgun, Seda Duman Ozturk, Cigdem Vural, Aysegul Ucuncu Kefeli, Sibel Balci, Devrim Cabuk, Kazim Uygun, Umut Kefeli","doi":"10.1177/10815589241270543","DOIUrl":"10.1177/10815589241270543","url":null,"abstract":"The A disintegrin and metalloprotease (ADAM) family is involved in many vital cellular events, from proliferation to migration, and accumulated evidence suggests its increased expression in malignant tumors. In this study, we investigated ADAM17 expression in non-small cell lung cancer (NSCLC) and its relationship with clinicopathological factors and survival. Immunohistochemical staining of ADAM expression was performed in 108 patients with NSCLC and in 54 control cases with no known malignant diagnosis. Association between ADAM17 expression, clinicopathological factors, and survival were analyzed. The Kaplan-Meier method was used for survival analysis. ADAM17 was lowly expressed in 89 (82.4%) and highly expressed in 19 (17.6%) of the patients with NSCLC. In univariate analysis, high ADAM17 expression, lymphovascular invasion, stage, and treatment response significantly affected progression-free survival (PFS) and overall survival (OS) (p < 0.05). Multivariate analysis also showed that high ADAM17 expression, lymphovascular invasion, stage, and treatment response were important prognostic factors for PFS and OS (p < 0.05). Our study revealed that high ADAM17 expression significantly associated with OS and PFS in patients with NSCLC. ADAM17 may potentially be the area of a new targeted treatment strategy in NSCLC. Thus, routine evaluation of ADAM17 expression in patients with NSCLC may be a future consideration.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"848-856"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ferulic acid inhibits tumor proliferation and attenuates inflammation of hepatic tissues in experimentally induced HCC in rats. 表达：阿魏酸可抑制肿瘤增殖并减轻实验性肝癌大鼠肝组织的炎症。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-14 DOI: 10.1177/10815589241270489

Zakria A Abdulal, Mohammed Y Altahhan, Abdulrahman F Qindil, Aseel M Al-Juhani, Manahel A Alatawi, Hanan M Hassan, Mohammed Mh Al-Gayyar

{"title":"Ferulic acid inhibits tumor proliferation and attenuates inflammation of hepatic tissues in experimentally induced HCC in rats.","authors":"Zakria A Abdulal, Mohammed Y Altahhan, Abdulrahman F Qindil, Aseel M Al-Juhani, Manahel A Alatawi, Hanan M Hassan, Mohammed Mh Al-Gayyar","doi":"10.1177/10815589241270489","DOIUrl":"10.1177/10815589241270489","url":null,"abstract":"Hepatocellular carcinoma (HCC) is a prevalent form of primary liver cancer with a 5-year survival rate of just 18%. Ferulic acid, a natural compound found in fruits and vegetables such as sweet corn, rice bran, and dong quai, is an encouraging drug known for its diverse positive effects on the body, including anti-inflammatory, anti-apoptotic, and neuroprotective properties. Our study aimed to investigate the potential antitumor effects of ferulic acid to inhibit tumor growth and inflammation of HCC in rats. HCC was induced in rats by administering thioacetamide. Additionally, some rats were given 50 mg/kg of ferulic acid three times a week for 16 weeks. Liver function was assessed by measuring serum alpha-fetoprotein (AFP) and examining hepatic tissue sections stained with hematoxylin/eosin or anti-hypoxia induced factor-1α (HIF-1α). The hepatic mRNA and protein levels of HIF-1α, nuclear factor κB (NFκB), tumor necrosis factor-α (TNF-α), mammalian target of rapamycin (mTOR), signal transducer and activator of transcription 3 (STAT3), cMyc, and cyclin D1 were examined. The results showed that ferulic acid increased the rats' survival rate by reducing serum AFP levels and suppressing hepatic nodules. Furthermore, ferulic acid ameliorated the appearance of vacuolated cytoplasm induced by HCC, reduced apoptotic nuclei, and necrotic nodules. Finally, ferulic acid decreased the expression of HIF-1α, NFκB, TNF-α, mTOR, STAT3, cMyc, and cyclin D1. In conclusion, ferulic acid is believed to possess antitumor properties by inhibiting HCC-induced hypoxia through the suppression of HIF-1α expression. Additionally, it helps in reducing the expression of mTOR, STAT3, cMyc, and cyclin D1, thereby slowing down tumor growth. Lastly, ferulic acid reduced hepatic tissue inflammation by downregulating NFκB and TNF-α.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"900-910"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hydrogen sulfide inhibits early development of atherosclerosis by modulating macrophage uptake of oxidized lipoproteins. EXPRESSS：硫化氢通过调节巨噬细胞对氧化脂蛋白的摄取抑制动脉粥样硬化的早期发展。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-09-26 DOI: 10.1177/10815589241279599

Nan Dong, Gang Yang, Yanmei Liu, Kaiyun Wu

{"title":"Hydrogen sulfide inhibits early development of atherosclerosis by modulating macrophage uptake of oxidized lipoproteins.","authors":"Nan Dong, Gang Yang, Yanmei Liu, Kaiyun Wu","doi":"10.1177/10815589241279599","DOIUrl":"10.1177/10815589241279599","url":null,"abstract":"Atherosclerosis, a major cause of cardiovascular diseases, is characterized by the accumulation of oxidized lipoproteins (ox-LDL) within arterial walls, leading to inflammation and plaque formation. Hydrogen sulfide (H2S) has demonstrated anti-inflammatory and vascular protective properties, but its role in modulating macrophage endocytosis of ox-LDL and its impact on early atherosclerosis development remains unclear. Macrophage cultures were utilized for ox-LDL uptake experiments. Macrophages were pretreated with sodium hydrosulfide (NaHS) (50 μmol/L) or propargylglycine (PPG, 3 mmol/L) for 1 h, followed by incubation with DiI-ox-LDL (10 μg/mL) for an additional 2 h. DiI-ox-LDL uptake was visualized using live-cell imaging. The expression of scavenger receptors CD36 and SR-A was assessed through immunofluorescent staining and western blot analysis. To determine the intracellular signal transduction pathways involved, macrophages were pretreated with NF-κB pathway blocker pyrrolidine dithiocarbamate or MAPK inhibitor PD98059 before the addition of NaHS. NaHS significantly inhibited ox-LDL uptake by macrophages, while PPG treatment markedly increased this process. Immunocytochemistry and western blot analysis revealed that the expressions of CD36 and SR-A were induced by ox-LDL but inhibited by NaHS in a concentration- and time-dependent manner. Furthermore, H2S down-regulated ox-LDL receptors CD36 and SR-A through the NF-κB signal pathway. H2S inhibits early atherosclerosis development by modulating macrophage uptake of ox-LDL through the down-regulation of CD36 and SR-A receptors via the NF-κB signaling pathway. These findings provide new evidence for the role of H2S in atherosclerosis and its potential therapeutic value.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"947-955"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Antihistamine and COVID-19 outcomes in outpatients. 快讯门诊病人中的抗组胺药和 COVID-19 结果。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-19 DOI: 10.1177/10815589241270449

Soodabeh Samimi, Majid Nimrouzi, Malihe Sousani, Yasaman Vazani

{"title":"Antihistamine and COVID-19 outcomes in outpatients.","authors":"Soodabeh Samimi, Majid Nimrouzi, Malihe Sousani, Yasaman Vazani","doi":"10.1177/10815589241270449","DOIUrl":"10.1177/10815589241270449","url":null,"abstract":"The World Health Organization declared the coronavirus disease 2019 (COVID-19) pandemic on March 11, 2020. Since then, researchers have been investigating the efficacy and side effects of its medication, up until now. From the viewpoint of Persian medicine, some medications such as antihistamines may cause retention of secretions and lead to exacerbation and spread of the disease in the body. There are studies with conflicting results regarding the effectiveness of antihistamines in COVID-19. Systematic reviews found a lack of data on beneficial effect of antihistamine-decongestant-analgesic combinations for the common cold and a limited short-term effect of antihistamines on severity of overall symptoms. This prospective cohort study was designed to investigate the relationship between the use of antihistamines and the severity of COVID-19 symptoms. Three hundred patients with a diagnosis of COVID-19 participated in the study in Shiraz, Iran from December 4, 2021 until January 24, 2022. The interviews were conducted via phone call by a single interviewer. Patients were followed weekly for 4 weeks. We collected information by using a data collection form, containing demographic information, underlying disease, COVID-19 symptoms, treatment methods, medications, and a list of antihistamines and herbs that might have been used. Generalized estimating equations were applied to assess the relationship between the severity of COVID-19 and the use of antihistamines, taking into account potential confounding factors such as time and herbal consumption. The difference in the severity of COVID-19 disease in antihistamine users compared to nonusers was not significant in 4 weeks despite the higher baseline severity in nonusers. The comparison of two groups of antihistamine users and nonusers showed that there was a significant difference (p = 0.001) regarding the use of herbal medicines.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"857-862"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The effect of pre-hospital use of RAS inhibitors on COVID-19 mortality. EXPRESS：院前使用 RAS 抑制剂对 COVID-19 死亡率的影响。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-28 DOI: 10.1177/10815589241270417

Rama Ibrahim

{"title":"The effect of pre-hospital use of RAS inhibitors on COVID-19 mortality.","authors":"Rama Ibrahim","doi":"10.1177/10815589241270417","DOIUrl":"10.1177/10815589241270417","url":null,"abstract":"The effect of pre-hospital use of renin-angiotensin system (RAS) inhibitors (angiotensin-converting enzyme inhibitors (ACEis)/angiotensin receptor blockers (ARBs)) on clinical outcomes of hypertensive patients with COVID-19 has been questioned due to conflicting reports on this issue. After applying exclusion criteria, 175 COVID-19 hospitalized patients admitted to the Tishreen Hospital from January 1 to July 31, 2021 were retrospectively enrolled in this study. Baseline characteristics and in-hospital mortality rate were assessed between hypertensive (N = 91, 52%) and non-hypertensive (N = 84, 48%) patients, as well as between patients taking ACEis/ARBs and non-ACEis/ARBs within the hypertensive group. A lower mortality rate (51.2 versus 31.9%, p = 0.009) was observed in the hypertensive group (mean age 64.6 years, 64.8% males) compared to the non-hypertensive (mean age 62.6 years, 66.7% males). Patients' mortality in the non-hypertensive group was associated with lower blood oxygen saturation (SPO2 = 75 versus 86%, p = 0.002), increased levels of inflammatory (CRP, white blood cell and neutrophils count), and tissue/renal injury markers (LDH, urea, and creatinine). In the hypertensive group, a lower mortality rate was noted in the ACEis/ARBs group compared to the non-ACEis/ARBs (24.1 versus 45.5%, p = 0.036), and this was associated with a decrease in D-DIMER levels, although not significant (1723 versus 2683 ng/mL, p > 0.05). Death in the non-ACEis/ARBs group was associated with decreased SPO2 and tissue/renal injury markers (LDH, CK, AST, urea, and creatinine). We concluded that hypertension is not a direct cause of poor prognosis in COVID-19 patients and that multi-organ damage is a significant indicator of death from COVID-19. RAS inhibitors could improve the survival of hypertensive COVID-19 patients.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"863-875"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Families with multiple individuals with acute leukemia in their pedigrees. 快讯血统中有多人患急性白血病的家族。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-19 DOI: 10.1177/10815589241262735

Peter H Wiernik, Matthew P Blakley, Janice P Dutcher

{"title":"Families with multiple individuals with acute leukemia in their pedigrees.","authors":"Peter H Wiernik, Matthew P Blakley, Janice P Dutcher","doi":"10.1177/10815589241262735","DOIUrl":"10.1177/10815589241262735","url":null,"abstract":"Forty-one families with multiple cases of de novo acute myeloid leukemia (AML), B-cell acute lymphocytic leukemia (B-ALL), or both are presented. The families were randomly collected from physicians, genetic counselors, and other sources. Medical records were collected and reviewed for all families. In 17 of the families, a parent and child with acute leukemia were identified; and in 15 of the pairs, the parent and child were of the same sex. Nine grandparent-grandchild affected pairs with AML-AML were identified, occurring in six families, and six of those pairs were also of the same sex. Anticipation was a common feature of these multigenerational pairs. Twenty families were identified with multiple siblings (none twins) with acute leukemia. This includes 16 sibling pairs and 4 sibling triples. The members of each sibling pair in the AML-AML group and in the B-ALL-B-ALL group were generally of roughly the same age. Curiously, this is not true of those in the AML-B-ALL group. Four of the 41 families had contributions to more than 1 family relationship category. Although inheritance in familial acute leukemia has usually been consistent with an autosomal dominant pattern, these data suggest that an X chromosome gene may be involved in some cases, perhaps in the pseudoautosomal region of the X chromosome as we have reported in familial Hodgkin lymphoma.","PeriodicalId":16112,"journal":{"name":"Journal of Investigative Medicine","volume":" ","pages":"842-847"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Randomized clinical trials and related concepts in clinical research. 快讯：随机临床试验和临床研究中的相关概念。

IF 2.5 4区医学

Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-12 DOI: 10.1177/10815589241270464

Rita Nogueiras-Álvarez

引用次数: 0