120,114 results match your criteria deficiency patients

Iron deficiency is associated with impaired biventricular reserve and reduced exercise capacity in patients with unexplained dyspnea.

J Card Fail 2021 Apr 7. Epub 2021 Apr 7.

Department of Cardiology, Hartcentrum, Jessa Hospital, Hasselt, Belgium; Faculty of Medicine and Life Sciences, Hasselt University, Hasselt, Belgium.

Background: Iron deficiency (ID) is frequent and associated with diminished exercise capacity in heart failure (HF), but its contribution to unexplained dyspnea without a HF diagnosis at rest remains unclear.

Methods: Consecutive patients with unexplained dyspnea and normal echocardiography and pulmonary function tests at rest underwent prospective standardized cardiopulmonary exercise testing with echocardiography (CPETecho) in a tertiary care dyspnea clinic. ID was defined as ferritin <300µg/l and transferrin saturation (TSAT)<20% and its impact on peak oxygen uptake (peakVO), biventricular response to exercise, and peripheral oxygen extraction was assessed. Read More

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Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.

Immun Inflamm Dis 2021 Apr 10. Epub 2021 Apr 10.

Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Background: Immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia (AIN) are disorders characterized by immune-mediated destruction of hematopoietic cell lineages. A link between pediatric immune cytopenias and inborn errors of immunity (IEI) was established in particular in the combined and chronic forms.

Objective: Aim of this study is to provide clinical-immunological parameters to hematologists useful for a prompt identification of children with immune cytopenias deserving a deeper immunological and genetic evaluation. Read More

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A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.

Fam Cancer 2021 Apr 10. Epub 2021 Apr 10.

The Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel.

Lynch syndrome is an inherited cancer predisposition syndrome caused by germline defects in any of the mismatch repair (MMR) genes. Diagnosis of carriers makes precision prevention, early detection, and tailored treatment possible. Herein we report a novel founder deletion of 18,758 bp, mediated by Alu repeats on both sides, detected in Ethiopian Jews. Read More

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A bacterial small RNA regulates the adaptation of Helicobacter pylori to the host environment.

Nat Commun 2021 Apr 9;12(1):2085. Epub 2021 Apr 9.

Department of Infection Microbiology, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.

Long-term infection of the stomach with Helicobacter pylori can cause gastric cancer. However, the mechanisms by which the bacteria adapt to the stomach environment are poorly understood. Here, we show that a small non-coding RNA of H. Read More

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J Emerg Med 2021 Apr 6. Epub 2021 Apr 6.

Department of Emergency Medicine, University of California, San Diego, San Diego, California; Division of Pulmonary, Critical Care and Sleep Medicine, University of California, San Diego, San Diego, California.

Background: Thiamine deficiency is an uncommon cause of severe illness in the United States that can lead to significant morbidity because of high-output cardiac failure, peripheral neuropathy, and permanent neurologic impairment. We report the case of a middle-aged woman with extreme malnutrition caused by complications of Roux-en-Y gastric bypass (RYGB) surgery who presented with signs and symptoms of severe thiamine deficiency and septic shock.

Case Report: A 43-year-old woman who had undergone RYGB surgery and who had multiple complications presented to the emergency department with agitation, confusion, and lethargy. Read More

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[Rehabilitation in Tay-Sachs disease: A case report].

Rehabilitacion (Madr) 2021 Apr 6. Epub 2021 Apr 6.

Servicio de Medicina Física y Rehabilitación, Hospital Clínico San Carlos, Madrid, España.

Tay-Sachs disease, or GM2 gangliosidosis, is a congenital and neurodegenerative disease caused by the absence or deficiency of the essential enzyme B-hexosaminidase. The timing of the development of neurological manifestations and their severity depend on the mutation, time since disease onset and the patient's characteristics. The disease impairs quality of life and increases mortality. Read More

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Characteristics of insulinopenic and non insulinopenic diabetes related to immune checkpoint inhibitors: A French pharmacovigilance study.

Therapie 2021 Mar 24. Epub 2021 Mar 24.

Regional Pharmacovigilance Center, Department of Pharmacology, Pitié-Salpêtrière Hospital, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address:

Introduction: Immune checkpoint inhibitor-induced diabetes mellitus (ICI-DM) is an immune-related adverse drug reaction (irADR). Hyperglycemia can be linked to endogenous insulin deficiency with ketoacidosis or associated with preserved beta-cell function.

Objectives: We aimed to identify the characteristics of both types of ICI-DM (type 1 and type 2 DM), to improve our understanding of this irADR and its management. Read More

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25-Hydroxy vitamin D deficiency predicts inferior prognosis in Hodgkin lymphoma.

Leuk Res 2021 Mar 29;105:106580. Epub 2021 Mar 29.

Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing 210029, China; Key Laboratory of Hematology of Nanjing Medical University, Nanjing 210029, China; Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing 210029, China. Electronic address:

The study investigated serum 25-Hydroxy vitamin D (25-(OH)D) deficiency and its prognostic values of patients newly diagnosed Hodgkin lymphoma (HL). With seventy-seven patients enrolled, the median level of 25-(OH)D was 44.5 nmol/L (range, 15. Read More

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Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency.

Nucleic Acids Res 2021 Apr 9. Epub 2021 Apr 9.

Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310058, China.

Deficient maturations of mitochondrial transcripts are linked to clinical abnormalities but their pathophysiology remains elusive. Previous investigations showed that pathogenic variants in MTO1 for the biosynthesis of τm5U of tRNAGlu, tRNAGln, tRNALys, tRNATrp and tRNALeu(UUR) were associated with hypertrophic cardiomyopathy (HCM). Using mto1 knock-out(KO) zebrafish generated by CRISPR/Cas9 system, we demonstrated the pleiotropic effects of Mto1 deficiency on mitochondrial RNA maturations. Read More

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Assessment of positive iron balance in end-stage renal disease: Could hepcidin-25 be useful?

Int J Lab Hematol 2021 Apr 9. Epub 2021 Apr 9.

Center for Medical Biochemistry, Clinical Center of Serbia, Belgrade, Serbia.

Introduction: The aim of our study was to examine the relationship of hepcidin-25 with red blood cell and reticulocyte indices and to evaluate the diagnostic properties of hepcidin-25 in the assessment of positive iron balance in end-stage renal disease (ESRD) patients.

Methods: Eighty anemic ESRD patients (hemoglobin < 110 g/L) were classified as having iron deficiency (ID, N = 20), iron sufficiency (IS, N = 29), and positive iron balance (PB, N = 31) using the conventional biomarkers for iron status evaluation. Hepcidin-25 was determined by a chemiluminescent direct ELISA. Read More

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Dietary intake and growth in children with Prader-Willi syndrome.

J Hum Nutr Diet 2021 Apr 9. Epub 2021 Apr 9.

Discipline of Paediatrics, Trinity College Dublin, The University of Dublin, Dublin, Ireland.

Background: The management of Prader-Willi Syndrome (PWS) requires strict dietary supervision to prevent obesity, avoid micronutrient deficiencies and ensure optimal growth. The present study aimed to examine the growth and dietary intake of children with PWS.

Methods: All children with genetically confirmed PWS attending Children's Health Ireland (CHI) at Tallaght (n = 44) were invited to participate. Read More

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Immune Inhibitory Properties and Therapeutic Prospects of Transforming Growth Factor-Beta and Interleukin 10 in Autoimmune Hepatitis.

Albert J Czaja

Dig Dis Sci 2021 Apr 9. Epub 2021 Apr 9.

Professor Emeritus of Medicine, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine and Science, 200 First Street S.W., Rochester, MN, 55905, USA.

Transforming growth factor-beta and interleukin 10 have diverse immune inhibitory properties that have restored homeostatic defense mechanisms in experimental models of autoimmune disease. The goals of this review are to describe the actions of each cytokine, review their investigational use in animal models and patients, and indicate their prospects as interventions in autoimmune hepatitis. English abstracts were identified in PubMed by multiple search terms. Read More

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Real-life outcomes after artificial urinary sphincter explantation in women suffering from severe stress incontinence.

World J Urol 2021 Apr 9. Epub 2021 Apr 9.

Department of Urology, Nouvel Hôpital Civil, Hôpitaux Universitaire de Strasbourg, 1 place de l'Hôpital, 67000, Strasbourg, France.

Purpose: Artificial urinary sphincter (AUS) implantation in female patients results in high satisfaction rates and high functional outcomes, but implantation can be challenging and explantation of the device is fairly common. The objective of this study was to review outcomes after AUS explantation in women.

Methods: This is a retrospective, monocentric study of all women who underwent open or laparoscopic AUS implantation between November 1994 and July 2019, and patients with AUS explantation were included. Read More

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Dermoscopic Features of Giant Molluscum Contagiosum in a Patient with Acquired Immunodeficiency Syndrome.

Acta Dermatovenerol Croat 2020 Dec;28(7):233-235

Martyna Sławińska MD, PhD, Department of Dermatology, Venereology and Allergology Medical University of Gdańsk, Smoluchowskiego 17 Street, 80-214 Gdańsk;

Giant molluscum contagiosum (MC) is a peculiar variant of the disease with the presence of multiple or single lesions larger than 5 mm. In contrast to typical molluscum contagiosum, dermoscopic features of giant lesions have been poorly described, and none of the reports included multiple giant lesions in an immunocompromised patient. We present a patient with acquired immunodeficiency syndrome diagnosed with multiple giant molluscum contagiosum along with the dermoscopic features of this entity. Read More

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December 2020

[Cobalamin in the complex treatment and prevention of cognitive impairment].

Zh Nevrol Psikhiatr Im S S Korsakova 2021 ;121(3):132-137

Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.

Cognitive impairment (CI) develops not only in structural damage to the central nervous system, but also in encephalopathies of dysmetabolic and deficiency etiology. Recently, special attention is focused on the appearance of CI due to the deficiency of cobalamin (vitamin B) and folic acid (FA), the change in the level of homocysteine (HC). To detect vitamin B deficiency is possible by examining key biomarkers in serum based on a decrease in the levels of vitamin B and holotranscobalamin, and levels of methylmalonic acid (MMA) and HC. Read More

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January 2021

[Cortexin administration due to improvement of cognitive and behavioral disorders in children and teenagers with epilepsy].

Zh Nevrol Psikhiatr Im S S Korsakova 2021 ;121(3):127-131

Children's Regional Clinical Hospital, Belgorod, Russia.

Objective: To study the possibility of using the polypeptide drug cortexin for the treatment of cognitive, emotional and behavioral disorders in children and adolescents with epilepsy and to assess the efficacy and safety of the drug in this group of patients.

Materials And Methods: Eighty-six patients (41 girls and 45 boys) were examined at the age of 3 to 17 y.o. Read More

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January 2021

Mutations in and differentially affect the tumor microenvironment and response to checkpoint blockade immunotherapy.

Nat Cancer 2021 Dec 16;1(12):1188-1203. Epub 2020 Nov 16.

Dept. of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY 10065.

Immune checkpoint blockade (ICB) has improved outcomes for patients with advanced cancer, but the determinants of response remain poorly understood. Here we report differential effects of mutations in the homologous recombination genes BRCA1 and BRCA2 on response to ICB in mouse and human tumors, and further show that truncating mutations in BRCA2 are associated with superior response compared to those in BRCA1. Mutations in BRCA1 and BRCA2 result in distinct mutational landscapes and differentially modulate the tumor-immune microenvironment, with gene expression programs related to both adaptive and innate immunity enriched in BRCA2-deficient tumors. Read More

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December 2021

Potential Alteration of Statin-Related Pharmacological Features in Diabetes Mellitus.

Biomed Res Int 2021 26;2021:6698743. Epub 2021 Mar 26.

Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.

Objective: Type 2 diabetes mellitus is a chronic metabolic disease caused by insulin resistance or insulin deficiency resulting in elevated blood glucose levels. Poorly controlled diabetes is associated with the development of cardiovascular disease and dyslipidemia. 3-Hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors (statin) are an important class of therapeutic agents used to control hyperlipidemia and prevent cardiovascular disease in diabetic and nondiabetic patients. Read More

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Horizons in Veterinary Precision Oncology: Fundamentals of Cancer Genomics and Applications of Liquid Biopsy for the Detection, Characterization, and Management of Cancer in Dogs.

Front Vet Sci 2021 23;8:664718. Epub 2021 Mar 23.

PetDx, La Jolla, CA, United States.

Cancer is the leading cause of death in dogs, in part because many cases are identified at an advanced stage when clinical signs have developed, and prognosis is poor. Increased understanding of cancer as a disease of the genome has led to the introduction of liquid biopsy testing, allowing for detection of genomic alterations in cell-free DNA fragments in blood to facilitate earlier detection, characterization, and management of cancer through non-invasive means. Recent discoveries in the areas of genomics and oncology have provided a deeper understanding of the molecular origins and evolution of cancer, and of the "one health" similarities between humans and dogs that underlie the field of comparative oncology. Read More

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Seasonal Changes in Vitamin D Levels of Healthy Children in Mid-Latitude, Asian Urban Area.

Pediatr Gastroenterol Hepatol Nutr 2021 Mar 4;24(2):207-217. Epub 2021 Mar 4.

Department of Pediatrics, Korea University Medical Center, Seoul, Korea.

Purpose: This study aimed to investigate the seasonal changes in vitamin D levels in a healthy pediatric population living in mid-latitude East Asian urban areas.

Methods: A pediatric population was selected from single secondary hospital visitors. Clinical data and serum vitamin D levels were collected retrospectively. Read More

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Evaluation of Vitamin D3 and Calcium Deficiency after Recovery from Extensive Burn.

World J Plast Surg 2021 Jan;10(1):60-65

Department of Surgery, Shiraz University of Medical Sciences, Shiraz, Iran.

Background: Previous studies in pediatric populations have demonstrated that vitamin D deficiency is common in patients with large burns. The aim of the current comparative study was to investigate the serum level of vitamin D in patients with large burns [>20% total body surface area (TBSA)] after 6 months of therapy.

Methods: This case control study was conducted during 6-month period from 2017 to 2018 in Amiralmomenin Hospital, Shiraz, Iran. Read More

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January 2021

Iron Deficiency Anemia as a Rare Risk Factor for Recurrent Pulmonary Embolism and Deep Vein Thrombosis.

Cureus 2021 Mar 5;13(3):e13721. Epub 2021 Mar 5.

Pulmonary Medicine, Marshall University Joan C. Edwards School of Medicine, Huntington, USA.

Iron deficiency is a well-known cause of anemia. However, it is an under-recognized cause of venous thromboembolism (VTE). Iron deficiency predisposes to VTE mainly by inducing thrombocytosis, which can lead to a hypercoagulable state. Read More

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Cerebral Venous Sinus Thrombosis in an Immunocompetent HIV Patient.

Cureus 2021 Mar 4;13(3):e13694. Epub 2021 Mar 4.

Neurology, Creighton University School of Medicine, Omaha, USA.

Cerebral venous sinus thrombosis (CVST) is an uncommon manifestation in patients with the human immunodeficiency virus (HIV) due to the virus's prothrombotic state. Our case involves a 41-year-old Hispanic male with a past medical history of HIV on bictegravir/emtricitabine/tenofovir/alafenamide (Biktarvy), hyperlipidemia, post-traumatic stress disorder, hypogonadism with the cessation of testosterone injections one month prior, and generalized anxiety disorder who presented with retro-orbital headache, intermittent bilateral blurry vision, and flashing lights in the lower lateral left eye for one week. Vitals signs and laboratory studies were within normal limits aside from new iron deficiency anemia. Read More

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Lessons Learned From the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis.

Front Immunol 2021 23;12:620709. Epub 2021 Mar 23.

Department of Tranzo, Tilburg University, Tilburg, Netherlands.

Background: Diagnostic delay in common variable immunodeficiency disorders (CVID) is considerable. There is no generally accepted symptom-recognition framework for its early detection.

Objective: To systematically review all existing data on the clinical presentation of CVID. Read More

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Effect of the Test and Treat Strategy on Mortality Among HIV-Positive Adult Clients on Antiretroviral Treatment in Public Hospitals of Addis Ababa, Ethiopia.

HIV AIDS (Auckl) 2021 30;13:349-360. Epub 2021 Mar 30.

School of Public Health, College of Medicine and Health Sciences, Hawassa University, Hawassa, Ethiopia.

Background: The primary goal of antiretroviral therapy is to prevent human immune deficiency virus (HIV)-related morbidity and mortality. Deferring antiretroviral therapy (ART) until CD4 counts decline puts individuals with HIV at risk of HIV-related morbidity and mortality.

Objective: This study aims to assess the effect of the test and treat strategy on mortality among HIV-positive clients on ART in public hospitals in Addis Ababa. Read More

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Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4 T cell perturbations.

Nat Immunol 2021 Apr 8. Epub 2021 Apr 8.

Department of Immunology, Harvard Medical School, Boston, MA, USA.

FOXP3 deficiency in mice and in patients with immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome results in fatal autoimmunity by altering regulatory T (T) cells. CD4 T cells in patients with IPEX syndrome and Foxp3-deficient mice were analyzed by single-cell cytometry and RNA-sequencing, revealing heterogeneous T-like cells, some very similar to normal T cells, others more distant. Conventional T cells showed no widespread activation or helper T cell bias, but a monomorphic disease signature affected all CD4 T cells. Read More

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Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.

Cold Spring Harb Mol Case Stud 2021 Apr 8;7(2). Epub 2021 Apr 8.

Greehey Children's Cancer Research Institute, UT Health San Antonio, San Antonio, Texas 78229, USA.

Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and a predisposition to cancer, most commonly leukemias, although solid tumors are reported as well. Bloom syndrome occurs in multiple ethnic groups with a higher incidence in persons of Ashkenazi Jewish origin. Read More

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Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency.

Neuromuscul Disord 2021 Feb 21. Epub 2021 Feb 21.

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.

Reversible infantile respiratory chain deficiency is a severe neonatal mitochondrial myopathy that resolves spontaneously. It is caused by the homoplasmic m.14674T>C mtDNA mutation and additional nuclear variants in genes interacting with mt-tRNAGlu have been detected in some patients. Read More

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February 2021

Predictive and prognostic biomarkers with therapeutic targets in colorectal cancer: A 2021 update on current development, evidence, and recommendation.

Clement Chung

J Oncol Pharm Pract 2021 Apr 9:10781552211005525. Epub 2021 Apr 9.

23530Houston Methodist West Hospital, Houston, TX, USA.

Although therapeutically actionable molecular alterations are widely distributed across many cancer types, only a handful of them show evidence of clinical utility and are recommended for routine clinical practice in the management of cancers of colon and rectum (CRC). This 2021 update aims to provide a succinct summary on the use of prognostic and/or predictive biomarkers (expanded , , microsatellite-high [MSI-H] or deficient mismatch repair [dMMR], neurotrophic tyrosine receptor kinase [] fusion genes, and human epidermal growth factor receptor type II [] gene amplification) associated with CRC. Therapeutic implications of each relevant predictive or prognostic biomarker for patients with CRC are described, along with discussion on new developments on (1) biomarker-driven therapies such as testing of , promoter methylation and germline genes in differentiating sporadic CRC or hereditary conditions such as Lynch syndrome; (2) first-line use of immune checkpoint inhibitors in metastatic CRC; (3) risk stratification and therapy selection based on primary tumor location (left-sided vs. Read More

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