462,673 results match your criteria deficiency

R-Ras Deficiency in Pericytes Causes Frequent Microphthalmia and Perturbs Retinal Vascular Development.

J Vasc Res 2021 Apr 19:1-15. Epub 2021 Apr 19.

Cancer and Blood Disorders Institute, Institute for Fundamental Biomedical Research, and Department of Surgery, Johns Hopkins All Children's Hospital, and Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, St. Petersburg, Florida, USA.

Purpose: The retinal vasculature is heavily invested by pericytes. Small GTPase R-Ras is highly expressed in endothelial cells and pericytes, suggesting importance of this Ras homolog for the regulation of the blood vessel wall. We investigated the specific contribution of pericyte-expressed R-Ras to the development of the retinal vasculature. Read More

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Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency showing unique radiological features, managed with surgical excision and antifungal treatment.

Int J Infect Dis 2021 Apr 16. Epub 2021 Apr 16.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong; Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong; Hong Kong Children's Hospital, Hong Kong. Electronic address:

We report this rare case of cerebral phaeohyphomycosis in a previously healthy Chinese boy who was found to have Caspase Recruitment Domain Family Member 9 (CARD9) deficiency. Initial radiological features suggested a neoplastic cerebral lesion, histopathological examination supplemented by internal transcribed sequencing (ITS) of cerebral tissue confirmed the diagnosis of phaeohyphomycosis. He was treated with intravenous (IV) amphotericin B and voriconazole, guided by plasma and cerebrospinal fluid (CSF) level monitoring at drug initiation. Read More

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Downregulation of TGR5 (GPBAR1) in biliary epithelial cells contributes to the pathogenesis of sclerosing cholangitis.

J Hepatol 2021 Apr 16. Epub 2021 Apr 16.

Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Medical Faculty of Heinrich Heine University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address:

Background&aims: Primary sclerosing cholangitis (PSC) is characterized by chronic inflammation and progressive fibrosis of the biliary tree. The bile acid receptor TGR5 is found on biliary epithelial cells (BECs), where it promotes secretion, proliferation and tight junction integrity. Thus, we speculated that changes in TGR5-expression in BECs may contribute to PSC pathogenesis. Read More

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Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency.

J Allergy Clin Immunol 2021 Apr 16. Epub 2021 Apr 16.

Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; Pediatric Immunology, University of Zurich, Zurich, Switzerland. Electronic address:

Background: The recognition of viral nucleic acids is one of the primary triggers for a type I interferon-mediated antiviral immune response. Inborn errors of type I interferon immunity can be associated with increased inflammation and/or increased susceptibility to viral infections, as a result of dysbalanced interferon production. NFX1-type zinc-finger-containing 1 (ZNFX1) is an interferon-stimulated double-strand RNA sensor that restricts the replication of RNA viruses in mice. Read More

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Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.

J Allergy Clin Immunol 2021 Apr 16. Epub 2021 Apr 16.

Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, BC, Canada; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada. Electronic address:

Background: Germline pathogenic variants impairing the caspase recruitment domain family member 11 (CARD11)-B cell CLL/lymphoma 10 (BCL10)-MALT1 paracaspase (MALT1) [CBM] complex are associated with diverse human diseases including combined immunodeficiency (CID), atopy, and lymphoproliferation. However, the impact of CARD11 deficiency on human B cell development, signalling, and function is incompletely understood.

Objective: We sought to determine the cellular, immunological, and biochemical basis of disease for two unrelated patients who presented with profound CID associated with viral and fungal respiratory infections, interstitial lung disease, and severe colitis. Read More

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The clinical applications of five-alpha reductase inhibitors.

Kevin R Loughlin

Can J Urol 2021 Apr;28(2):10584-10588

Harvard Medical School, Vascular Biology Laboratory, Boston Children's Hospital, Boston, Massachusetts, USA.

INTRODUCTION Five-alpha reductase (5-AR) deficiency was first identified by Imperato-McGinley and Walsh as the cause of pseudohermaphroditism in two separate studies. The discoveries led to the development of finasteride (inhibitor of type 2 isoenzyme of 5-AR) and dutasteride (inhibitor of type 1 and type 2 isoenzymes of 5-AR. Both drugs have been proven effective for the treatment of benign prostatic hyperplasia and improve voiding symptoms, reduce the risk of urinary retention and the need for prostate surgery. Read More

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HPF1-dependent PARP activation promotes LIG3-XRCC1-mediated backup pathway of Okazaki fragment ligation.

Nucleic Acids Res 2021 Apr 19. Epub 2021 Apr 19.

Division of Cancer Cell Biology, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.

DNA ligase 1 (LIG1) is known as the major DNA ligase responsible for Okazaki fragment joining. Recent studies have implicated LIG3 complexed with XRCC1 as an alternative player in Okazaki fragment joining in cases where LIG1 is not functional, although the underlying mechanisms are largely unknown. Here, using a cell-free system derived from Xenopus egg extracts, we demonstrated the essential role of PARP1-HPF1 in LIG3-dependent Okazaki fragment joining. Read More

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Site-specific responses of lowland rice to acidulated and calcined phosphate rock fertilizers in the Center-West region of Burkina Faso.

PLoS One 2021 19;16(4):e0250240. Epub 2021 Apr 19.

Crop, Livestock, and Environment Division, Japan International Research Center for Agricultural Sciences, Tsukuba, Ibaraki, Japan.

Soil phosphorus (P) deficiency is a major constraint of crop production in Sub-Saharan Africa. In particular, in the Sudano-Sahelian zone of Burkina Faso, P is rarely replenished as fertilizer supplies are limited in rural areas and because of the socio-economic situation of farmers. There is however, an abundance of local phosphate rock resource in the country. Read More

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Case Report: Fulminant Infantile Beriberi: A Report of Six Cases.

Am J Trop Med Hyg 2021 Apr 19. Epub 2021 Apr 19.

Thiamine deficiency disorders are an under-recognized public health problem in low- and middle-income countries. Infantile beriberi, the most important symptom for children, is suspected to significantly contribute to infant mortality and lifelong neurodevelopmental morbidity. Lack of awareness, varied clinical presentation, and lack of a readily available diagnostic marker lead to frequent misdiagnoses. Read More

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Convolutional Sparse Support Estimator-Based COVID-19 Recognition From X-Ray Images.

IEEE Trans Neural Netw Learn Syst 2021 Apr 19;PP. Epub 2021 Apr 19.

Coronavirus disease (COVID-19) has been the main agenda of the whole world ever since it came into sight. X-ray imaging is a common and easily accessible tool that has great potential for COVID-19 diagnosis and prognosis. Deep learning techniques can generally provide state-of-the-art performance in many classification tasks when trained properly over large data sets. Read More

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Lateral Extra-articular Tenodesis Contributes Little to Change In Vivo Kinematics After Anterior Cruciate Ligament Reconstruction: A Randomized Controlled Trial.

Am J Sports Med 2021 Apr 19:3635465211003298. Epub 2021 Apr 19.

UPMC Freddie Fu Sports Medicine Center, Department of Orthopaedic Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Background: Lateral extra-articular tenodesis (LET) in combination with anterior cruciate ligament (ACL) reconstruction (ACLR) has been proposed to improve residual rotatory knee instability in patients having ACL deficiency.

Purpose/hypothesis: The purpose was to compare the effects of isolated ACLR (iACLR) versus LET in combination with ACLR (ACLR+LET) on in vivo kinematics during downhill running. It was hypothesized that ACLR+LET would reduce the internal rotation of the reconstructed knee in comparison with iACLR. Read More

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Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis.

QJM 2021 Apr 19. Epub 2021 Apr 19.

Warrington and Halton Hospitals NHS Trust, United Kingdom.

Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder affecting fatty acid oxidation. The myopathic form of the condition is the most common among adults and manifests itself with a high serum creatine kinase (CK) concentration. Triggers of very high CK concentrations include periods of fasting, infection, exercise, stress, and exposure to extreme temperatures. Read More

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Impaired bone microarchitecture in premenopausal women with acromegaly: the possible role of Wnt signaling.

J Clin Endocrinol Metab 2021 Apr 19. Epub 2021 Apr 19.

Neuroendocrine Unit, Division of Endocrinology and Metabolism, Hospital das Clinicas, University of São Paulo Medical School, São Paulo, Brazil.

Context: Acromegaly can impair bone integrity, increasing the risk of vertebral fractures (VF).

Objective: To evaluate the impact of isolated GH/IGF-I hypersecretion on bone turnover markers,Wnt inhibitors, BMD, microarchitecture, bone strength and vertebral fractures in female patients with acromegaly (Acro), compared to healthy control group (HC).

Design, Setting, And Patients: Cross-sectional study including 83 premenopausal women without any pituitary deficiency:18 acromegaly in remission (AcroR), 12 in group with active acromegaly (AcroA) and 53 HC. Read More

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Effects of dietary polyphenol supplementation on iron status and erythropoiesis: a systematic review and meta-analysis of randomized controlled trials.

Am J Clin Nutr 2021 Apr 19. Epub 2021 Apr 19.

Beijing Advanced Innovation Center for Food Nutrition and Human Health, Key Laboratory of Precision Nutrition and Food Quality, Department of Nutrition and Health, China Agricultural University, Beijing, China.

Background: The iron-chelating activities of polyphenols raise concern whether there is a risk of iron deficiency or anemia induced by polyphenol supplementation. Results from clinical trials regarding the effects of polyphenol supplementation on iron status and erythropoiesis are inconclusive.

Objective: We performed a systematic review and meta-analysis of randomized controlled trials to determine the effects of polyphenol supplementation on iron status and erythropoiesis. Read More

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[5'-Deoxyribose Phosphate Lyase Activity of Apurinic/Apyrimidinic Endonuclease 1].

Mol Biol (Mosk) 2021 Mar-Apr;55(2):269-276

Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090 Russia.

One of the most common DNA lesions is the appearance of apurinic/apyrimidinic (AP-) sites. The main repair pathway for AP sites is initiated by apurinic/apyrimidinic endonuclease 1 (APE1). Upon hydrolysis of the phosphodiester bond by this enzyme, a one nucleotide gap flanked by 3'-hydroxyl and 5'-deoxyribose phosphate groups on the 5'-side of the AP site is formed. Read More

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Vitamin K and vascular calcification.

Curr Opin Nephrol Hypertens 2021 Apr 16. Epub 2021 Apr 16.

Institute of Cardiovascular and Medical Sciences, BHF Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow AGE Research Group, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Purpose Of Review: Vascular calcification is a common and important cardiovascular risk factor in patients with chronic kidney disease (CKD). Recent advances in the understanding of the biology of vascular calcification implicate vitamin K-dependent proteins as important regulators in this process. This review highlights recent key advances in vascular biology, epidemiology, and clinical trials in this rapidly evolving field. Read More

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Noncardiovascular comorbidities in patients with heart failure and their impact on prognosis.

Kardiol Pol 2021 Apr 13. Epub 2021 Apr 13.

With the aging of the population and improvement of life expectancy of patients with heart disease, there is an increase in non-CV comorbidities affecting chronic heart failure (HF) patients. The increased prevalence of different cardiovascular (CV) and non-CV comorbidities is a rising problem in the management of patients with HF, mostly because these comorbilities may lead to poor prognosis, increase of hospitalization and mortality rate. Recently, important data from multicenter randomized studies points to diabetes mellitus or iron deficiency as new pharmacological targets, highlighting the need of multiple expertises for the 21st century cardiologist. Read More

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COL17A1 gene polymorphisms are frequent in bullous pemphigoid.

J Eur Acad Dermatol Venereol 2021 Apr 19. Epub 2021 Apr 19.

Skin Research Centre, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Bullous pemphigoid (BP) is an organ-specific autoimmune disease of the skin characterized and caused by autoantibodies. Mechanistically, genetic variations in the COL17A1 gene may cause collagen deficiency or alteration of the production, function, and structure of the type XVII collagen (COL17) protein, leading to skin blistering response due to a reduction in epidermal-dermal adhesion. Gene polymorphisms that result in amino acid substitutions could affect the structure of the molecule and therefore become susceptible to autoantibody attack. Read More

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Reversible Nutritional Deficiency-Related Conjunctival Xerosis and Optic Neuropathy Secondary to an Exclusively Potato-Based Diet.

J Neuroophthalmol 2021 Apr 14. Epub 2021 Apr 14.

Baylor College of Medicine (MDB, AGL), Houston, Texas; Department of Ophthalmology (PM, SR, AGL), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas; Houston Methodist Research Institute (AGL), Houston Methodist Hospital, Houston, Texas; Departments of Ophthalmology, Neurology, and Neurosurgery (AGL), Weill Cornell Medicine, New York, New York; Department of Ophthalmology (AGL), University of Texas Medical Branch, Galveston, Texas; University of Texas Maryland Anderson Cancer Center (AGL), Houston, Texas; Texas A and M College of Medicine (AGL), Bryan, Texas; and Department of Ophthalmology (AGL), the University of Iowa Hospitals and Clinics, Iowa City, Iowa.

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Pneumocystis jirovecii: a review with a focus on prevention and treatment.

Expert Opin Pharmacother 2021 Apr 19:1-14. Epub 2021 Apr 19.

Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.

: (PJ) is an opportunistic fungal pathogen that can cause severe pneumonia in immunocompromised hosts. Risk factors for pneumonia (PJP) include HIV, organ transplant, malignancy, certain inflammatory or rheumatologic conditions, and associated therapies and conditions that result in cell-mediated immune deficiency. Clinical signs of PJP are nonspecific and definitive diagnosis requires direct detection of the organism in lower respiratory secretions or tissue. Read More

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Increased postprandial nonesterified fatty acid efflux from adipose tissue in prediabetes is offset by enhanced dietary fatty acid adipose trapping.

Am J Physiol Endocrinol Metab 2021 Apr 19. Epub 2021 Apr 19.

Medicine, Endocrinology department, Medicine Division,CHUS Research Center, Sherbrooke University, 3001 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada.

The mechanism of increased postprandial nonesterified fatty acid (NEFA) appearance in the circulation in impaired glucose tolerance (IGT) is due to increased adipose tissue lipolysis but could also be contributed to by reduced adipose tissue (AT) dietary fatty acid (DFA) trapping and increased 'spillover' into the circulation. Thirty-one subjects with IGT (14 women, 17 men) and 29 with normal glucose tolerance (NGT, 15 women, 14 men) underwent a meal test with oral and intravenous palmitate tracers and the oral [F]-fluoro-thia-heptadecanoic acid positron emission tomography method. Postprandial palmitate appearance (Ra) was higher in IGT vs. Read More

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Autoimmune polyendocrine syndrome type 3, characterized by autoimmune thyroid disease, type 1 diabetes mellitus, and isolated ACTH deficiency, developed during adjuvant nivolumab treatment.

Asia Pac J Clin Oncol 2021 Apr 18. Epub 2021 Apr 18.

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Autoimmune polyendocrine syndrome (APS) is one of the life-threatening immune-related adverse events (irAEs). We firstly report a case of APS induced by adjuvant nivolumab therapy. Clinicians should be aware of the potential risks of developing severe irAEs when applying adjuvant immunotherapy. Read More

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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.

Pediatr Dermatol 2021 Apr 19. Epub 2021 Apr 19.

Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.

Holocarboxylase deficiency (HLCSD) is caused by biallelic pathogenic variants in HLCS and is associated with poor feeding, emesis, lethargy, seizures, life-threatening metabolic acidosis, and hyperammonemia. Skin involvement in HLCSD is typically described as scaly, erythrodermic, seborrhea-like, or ichthyosiform, but there is a paucity of reports. We report three patients, including two siblings, with HLCSD and significant cutaneous manifestations including ichthyosiform dermatitis and a presentation with features of annular pustular psoriasis. Read More

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Combined vaccine-immune-checkpoint inhibition constitutes a promising strategy for treatment of dMMR tumors.

Cancer Immunol Immunother 2021 Apr 18. Epub 2021 Apr 18.

Department of Medicine Clinic III - Hematology, Oncology, Palliative Medicine, Rostock University Medical Center, Ernst-Heydemann-Str. 6, 18057, Rostock, Germany.

Background: Mlh1-knock-out-driven mismatch-repair-deficient (dMMR) tumors can be targeted immunologically. By applying therapeutic tumor vaccination, tumor growth is delayed but escape mechanisms evolve, including upregulation of immune-checkpoint molecules (LAG-3, PD-L1). To counteract immune escape, we investigated the therapeutic activity of a combined tumor vaccine-immune-checkpoint inhibitor therapy using α-PD-L1. Read More

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Effects of phosphorus and sulfur on yield and nutrient uptake of wheat ( L.) on Vertisols, North Central, Ethiopia.

Heliyon 2021 Mar 31;7(3):e06614. Epub 2021 Mar 31.

College of Agriculture and Natural Science, Debre Berhan University, P. O. Box 445, Debre Berhan, Ethiopia.

Deficiency of phosphorus (P) and sulfur (S) is increasingly being reported in soils of Ethiopia. While some studies have shown significant response of wheat to P and S application, information on the response of wheat to P and S application interactively is conspicuously lacking. In this regard, we evaluated the response of wheat to P and S application interactively in the study area. Read More

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Phosphorus availability and exchangeable aluminum response to phosphate rock and organic inputs in the Central Highlands of Kenya.

Heliyon 2021 Mar 8;7(3):e06371. Epub 2021 Mar 8.

Department of Agricultural Resource Management, University of Embu, PO Box 6-60100, Embu Kenya.

Soil acidity and phosphorus deficiency are some of the constraints hampering agricultural production in tropical regions. The prevalence of soil acidity is associated with phosphorus (P) insufficiency and aluminum saturation. We conducted a two-seasons experiment to evaluate soil phosphorus availability and exchangeable aluminum in response to phosphate rock and organic inputs in acidic . Read More

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Galectin 3 and non-classical monocytes of blood as myocardial remodeling factors at ischemic cardiomyopathy.

Int J Cardiol Heart Vasc 2021 Apr 3;33:100766. Epub 2021 Apr 3.

Pathophysiology Division of Siberian State Medical University, 2 Moskovsky Trakt, Tomsk 634050, Russia.

Aims: To identify an imbalance of cardiac remodeling mediators and monocytes subpopulation in blood, distribution of myocardium macrophages in patients with ischemic cardiomyopathy (ICMP).

Methods: The study engaged 30 patients with ICMP, 26 patients with coronary heart disease (CHD) without ICMP, 15 healthy donors. Concentrations of TGFβ, MMP-9, MCP-1, galectin-3 were measured in plasma of blood from the coronary sinus and peripheral blood in CHD patients, as well as in peripheral blood in healthy donors, by enzyme immunoassay method. Read More

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A case of a mild Wolfram Syndrome with concomitant mutation.

CellR4 Repair Replace Regen Reprogram 2019 28;7. Epub 2019 Aug 28.

Department of Laboratory Medicine, Research and Development Division, 'San Giovanni Calibita', Fatebenefratelli Hospital, Isola Tiberina, Rome, Italy.

Background: Wolfram Syndrome 1 (WS1) has been characterized on the basis of mutation in the WFS1 gene encoding a calcium storage wolframin endoplasmatic reticulum transmembrane glycoprotein.

Patients And Methods: We observed a WS 10-years old female subject, with Type 1 diabetes-mellitus (DM), that had compound heterozygous WSF1 mutations but without other symptoms generally observed in WS subjects, such as optic atrophy or neurodegeneration.

Results: Decreased copper, ceruloplasmin, and transferrin levels, pointing to a copper deficiency, were associated with a new c. Read More

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Clay Ingestion During Pregnancy Among Black African Women in a North London Borough: Understanding Cultural Meanings, Integrating Indigenous and Biomedical Knowledge Systems.

Front Sociol 2020 7;5:20. Epub 2020 Apr 7.

School of Tropical Medicine, Liverpool School of Tropical Medicine, Liverpool, United Kingdom.

Findings from this qualitative audit conducted in a North London Borough among Black African women show that clay ingestion during pregnancy is a cultural phenomenon embedded in indigenous knowledge (IK). Reasons for clay ingestion include curbing morning sickness, nausea, satisfying cravings, "mineral deficiency" and other life sustaining beliefs. However, Public Health practitioners' top down approach and response which considers the practice as "dangerous" and potentially harmful to the health of the woman and unborn child with midwives and General Practitioner doctors called upon to discourage it, risks alienating the target population. Read More

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Therapeutic SERPINs: Improving on Nature.

Front Cardiovasc Med 2021 31;8:648349. Epub 2021 Mar 31.

CDL Research, University Medical Center Utrecht, Utrecht, Netherlands.

Serine proteases drive important physiological processes such as coagulation, fibrinolysis, inflammation and angiogenesis. These proteases are controlled by serine protease inhibitors (SERPINs) that neutralize their activity. Currently, over 1,500 SERPINs are known in nature, but only 37 SERPINs are found in humans. Read More

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