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Safety of Biological Therapies for Severe Asthma: An Analysis of Suspected Adverse Reactions Reported in the WHO Pharmacovigilance Database
BackgroundThe management of uncontrolled severe asthma has greatly improved since the advent of novel biologic therapies. Up to August 2022, five...
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Causes of Congenital Malformations
Congenital malformations are structural abnormalities due to faulty development, present at birth, and amongst the major causes of prenatal,...
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Rheumatoid arthritis-associated complications during pregnancy and its effect on offspring: comprehensive review
This study comprehensively explores the complexities of rheumatoid arthritis during pregnancy and its impact on offspring. Through an extensive...
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High Inborn Errors of Immunity Risk in Patients with Granuloma
ObjectiveGranuloma etiology includes infections, vasculitis, chemicals, malignancies, lymphoproliferative disorders, and immunological diseases. We...
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Clinical and genetic variability of PAX2-related disorder in the Japanese population
Pathogenic variants of paired box gene 2 ( PAX2 ) cause autosomal-dominant PAX2 -related disorder, which includes renal coloboma syndrome (RCS)....
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Women’s Health from a Pharmacy Perspective
This chapter looks specifically at the available pharmacist services based evidence in relation to women’s health across the life course. Women’s...
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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD),...
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The Pathogenesis of Liver Diseases in Pregnancy
Liver diseases that occur in pregnancy include acute fatty liver of pregnancy (AFLP); hemolysis, elevated liver enzymes, and low platelet (HELLP)...
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform
Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number...
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Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
Phosphoglucomutase 3 (PGM3) deficiency is a rare congenital disorder of glycosylation. Most of patients with autosomal recessive hypomorphic...
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Preterm birth and sustained inflammation: consequences for the neonate
Almost half of all preterm births are caused or triggered by an inflammatory process at the feto-maternal interface resulting in preterm labor or...
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Ring Chromosomes from Patients’ Perspective
Ring chromosomes (RCs) are normally reported in the scientific literature exclusively from the (cyto) genetic and/or clinical point of view. There is...
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The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial...
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Changes of lipoxin levels during pregnancy and the monthly-cycle, condition the normal course of pregnancy or pathology
Objective and DesignThe purpose of the review was to gather information on the role and possibilities of using lipoxin in the treatment of...
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Risk estimation of fetal adverse effects after short-term second trimester exposure to non-steroidal anti-inflammatory drugs: a literature review
PurposeNon-steroidal anti-inflammatory drugs (NSAIDs) are not recommended in the 3rd trimester of pregnancy due to known fetal adverse effects in an...
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Pediatric Dermatology
This chapter reviews dermatologic conditions encountered in neonates, infants, and children, with a focus on inherited disorders and syndromes with...
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European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management
This guideline aims to describe the complement system and the functions of the constituent pathways, with particular focus on primary...
