A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency [PDF]
, 2012 Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD)
Hiedl, Stefan +7 more
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Case Reports in Neurology, 2021 This case represents a unique example of stroke in a young patient involving major venous sinuses as well as major artery in a span of 6 months. After evaluation, he was found to have an abnormal thrombophilia profile.
Dhanashree Peddawad
doaj +1 more source
Deep Vein Thrombosis and Pulmonary Embolism Secondary to Thrombophilic Disorder: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchIron Deficiency Anaemia (IDA) is a prevalent nutritional deficiency and a common haematological disorder characterised by low iron levels, which lead to reduced haemoglobin production, fatigue, pallor and diminished oxygen delivery.
Satbir Kaur Malik +3 more
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Protein S and pregnancy: Report of a case [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2002 Protein S is a cofactor of protein S which lowers the activat- ed factors VIII and V. Pregnancy reduces the level of protein S to 40-50% of normal levels but it is not clear whether the lowered protein S levels increase the risk of developing thrombo ...
Dunjić Radica +4 more
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Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]
, 2009 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
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Proxy markers of serum retinol concentration, used alone and in combination, to assess population vitamin A status in Kenyan children: a cross-sectional study [PDF]
, 2015 Background Serum retinol concentration determined by high-performance liquid chromatography (HPLC) is recommended by the World Health Organization to assess population vitamin A status.
Inge D Brouwer +18 more
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Studying protein-protein interactions using peptide arrays [PDF]
, 2010 Screening of arrays and libraries of compounds is well-established as a high-throughput method for detecting and analyzing interactions in both biological and chemical systems. Arrays and libraries can be composed from various types of molecules, ranging
Rito, T. +7 more
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Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 [PDF]
, 2010 Context: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory ...
Metherell, LA +5 more
core +1 more source
Protein C and S deficiency presenting as acute abdomen
Medical Journal of Dr. D.Y. Patil University, 2015 Protein C and S are essential in limiting the activation of coagulation in vivo. Their deficiencies predispose the patient to thrombophilia and leads to thrombosis, often at unusual sites. Arterial thrombosis is rarely observed.
Amit A Bharadiya +3 more
doaj +1 more source
Pulmonary Embolism Due to Protein S Deficiency in Pregnancy
Taiwanese Journal of Obstetrics & Gynecology, 2005 Objective: Inherited thrombophilia is an uncommon disease that may cause recurrent thrombosis and may complicate pregnancy. A patient with protein S deficiency suffered antepartum deep venous thrombosis (DVT) and antepartum pulmonary embolism (PE) in the
Pek-Ha Mak +3 more
doaj +1 more source