46,127 results match your criteria severe deficiency


Cell-autonomous retinoic acid receptor signaling has stage-specific effects on mouse enteric nervous system.

JCI Insight 2021 Apr 13. Epub 2021 Apr 13.

Department of Pediatrics, Children's Hospital of Philadelphia Research Institute, Philadelphia, United States of America.

Retinoic acid (RA) signaling is essential for enteric nervous system (ENS) development since vitamin A deficiency or mutations in RA signaling profoundly reduce bowel colonization by ENS precursors. These RA effects could occur because of RA activity within the ENS lineage or via RA activity in other cell types. To define cell-autonomous roles for retinoid signaling within the ENS lineage at distinct developmental time points, we activated a potent floxed dominant-negative RA receptor α (RarαDN) in the ENS using diverse CRE recombinase-expressing mouse lines. Read More

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Pathological coagulation parameters in as many as 54 patients with autoimmune acquired factor XIII deficiency due to anti-factor XIII autoantibodies.

Haemophilia 2021 Apr 12. Epub 2021 Apr 12.

Department of Molecular Patho-Biochemistry and Patho-Biology, Yamagata University School of Medicine, Yamagata, Japan.

Introduction: Autoimmune factor XIII (FXIII) deficiency (AiF13D) due to anti-FXIII autoantibodies is an extremely rare, life-threatening bleeding disorder that mostly occurs in the elderly. The number of patients diagnosed with AiF13D has been increasing in Japan, probably because of the nationwide survey on AiF13D supported by the Japanese Ministry of Health, Labour and Welfare.

Aim: To explore the pathologic characteristics of coagulation parameters in AiF13D. Read More

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Hypocalcemia in COVID-19: Prevalence, clinical significance and therapeutic implications.

Rev Endocr Metab Disord 2021 Apr 13. Epub 2021 Apr 13.

Institute of Endocrine and Metabolic Sciences, Università Vita-Salute San Raffaele, IRCCS Ospedale San Raffaele, Milan, Italy.

COVID-19 extra-pulmonary features include several endocrine manifestations and these are becoming strongly clinically relevant in patients affected influencing disease severity and outcomes.At the beginning of COVID-19 pandemic no population data on calcium levels in patients affected were available and in April 2020 a first case of severe acute hypocalcemia in an Italian patient with SARS-CoV-2 infection was reported. Subsequently, several studies reported hypocalcemia as a highly prevalent biochemical abnormality in COVID-19 patients with a marked negative influence on disease severity, biochemical inflammation and thrombotic markers, and mortality. Read More

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FRET-Based Genetically Encoded Nanosensor for Real-Time Monitoring of the Flux of α-Tocopherol in Living Cells.

ACS Omega 2021 Apr 23;6(13):9020-9027. Epub 2021 Mar 23.

Department of Botany, Aligarh Muslim University, Aligarh 202002, India.

Vitamin E plays an exemplary role in living organisms. α-Tocopherol is the most superior and active form of naturally occurring vitamin E that meets the requirements of human beings as it possesses the α-tocopherol transfer protein (α-TTP). α-Tocopherol deficiency can lead to severe anemia, certain cancers, several neurodegenerative and cardiovascular diseases, and most importantly male infertility. Read More

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Silent Thrombotic Thrombocytopenic Purpura: PLASMIC, Lessons Learned, and Current Management Overview.

Cureus 2021 Mar 10;13(3):e13803. Epub 2021 Mar 10.

Oncology, Brandon Regional Hospital, Tampa, USA.

Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening autoimmune or hereditary thrombotic microangiopathy (TMA) that may be difficult to recognize given the wide spectrum of presenting symptoms. The clinical diagnosis of TTP is based on thrombocytopenia, microangiopathic hemolytic anemia and is confirmed by a disintegrin-like and metalloproteinase with thrombospondin type one motif, member 13 (ADAMTS13) <10%. However, the latter confirmation is not rapidly available, and treatment is typically initiated based on the degree of clinical suspicion. Read More

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[Molybdenum cofactor deficiency caused by gene mutation: a case report].

Zhongguo Dang Dai Er Ke Za Zhi 2021 Apr;23(4):416-419

Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.

A boy attended the hospital at the age of 1 month due to left hand tremor for 1 week. A blood test showed a reduction in serum uric acid and a cranial MRI showed encephalomalacia, atrophy, and cystic changes. The boy had microcephalus, unusual facial features (long face, long forehead, protruded forehead, long philtrum, low nasal bridge, facial swelling, and thick lower lip), hypertonia of lower extremities, and severe global developmental delay. Read More

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The current diagnosis and treatment of high-risk patients with chronic primary and secondary mitral valve regurgitation.

Authors:
Robert J Henning

Future Cardiol 2021 Apr 12. Epub 2021 Apr 12.

University of South Florida, Tampa, FL 33612, USA.

Mitral valve regurgitation (MR) is due primarily to either primary degeneration of the mitral valve with Barlow's or fibroelastic disease or is secondary to ischemic or nonischemic cardiomyopathies. Echocardiography is essential to assess MR etiology and severity, the remodeling of cardiac chambers and to characterize longitudinal chamber changes to determine optimal therapies. Surgery is recommended for severe primary MR if persistent symptoms are present or if left ventricle dysfunction is present with an EF <60% or a left ventricle end-systolic diameter ≥40 mm. Read More

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Long-term outcome of urea cycle disorders: report from a nationwide study in Japan.

J Inherit Metab Dis 2021 Apr 11. Epub 2021 Apr 11.

Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Urea cycle disorders (UCDs) are inherited metabolic disorders with impaired nitrogen detoxification caused by defects in urea cycle enzymes. They often manifest with hyperammonemic attacks resulting in significant morbidity or death. We performed a nationwide questionnaire-based study between January 2000 and March 2018 to document all UCDs in Japan, including diagnoses, treatments, and outcomes. Read More

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Iron Deficiency Anemia and Early Childhood caries: a cross-sectional study.

Aust Dent J 2021 Apr 11. Epub 2021 Apr 11.

Resident of Pediatrics and Neonatology, Egyptian Ministry of Health. MBBCH, Faculty of Medicine, Ain Shams University, Egypt.

Background: This study aimed to assess​ ​the​ ​association​ ​between Iron Deficiency Anemia (IDA​)​and dental caries in early childhood.

Methods: A total of 40 children with proven iron deficiency anemia and another 40 healthy age and sex-matched children were enrolled in this cross-sectional study. Legal guardians were interviewed to collect data on oral hygiene measures and dietary habits. Read More

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Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013-2019.

J Pediatr Endocrinol Metab 2021 Apr 12. Epub 2021 Apr 12.

National Center for Birth Defects Monitoring of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P. R. China.

Background: Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country. Read More

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