Hyper-immunoglobulin M (IgM) syndrome (HIGM) is a rare heterogeneous primary immune deficiency. We describe a patient with HIGM characterized by skewed production of serum IgG subclasses and normal somatic hypermutation. This case may represent a subgroup of HIGM type 4 that is characterized by a biased switching to the V-region proximal constant regions.

introduction: noonan syndrome (ns) is a heterogeneous genetic disease that affects many parts of the body. it was named after dr. jacqueline anne noonan, a paediatric cardiologist.case report: we report audiological tests and auditory brainstem response (abr) findings in a 5-year old malay boy with ns. despite showing the marked signs of ns, the child could only produce a few meaningful words. ...

The coronavirus disease-19 (COVID-19) pandemic leaded to inevitable expeditious vaccine rollout without sufficient safety profile. Especially, severe acute respiratory syndrome 2 infection has known induce overreacted immune responses such as releasing of proteinase-3 and myeloperoxidase (MPO) by neutrophil. This response leads the concern development autoimmune diseases after COVID-19 vaccinat...

OBJECTIVE Traditional Chinese medicine (TCM) is a unique and complex medical system that has developed over thousands of years. This article studies the problem of automatically extracting meaningful relations of entities from TCM literature, for the purposes of assisting clinical treatment or poly-pharmacology research and promoting the understanding of TCM in Western countries. METHODS Inst...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with fragile X premutation carriers. Previous studies have shown that fragile X rCGG repeats are sufficient to cause neurodegeneration and that the rCGG-repeat-binding proteins Pur α and heterogeneous nuclear ribonucleoprotein (hnRNP) A2/B1 could modulate rCGG-mediated neuronal toxicity. Mobile geneti...

Persistent fetal vasculature (PFV) is a developmental disease that involves varying degrees of hyaloid system remnants and affects almost all parts the eye. Although PFV syndrome has been known for many years, full spectrum findings still not fully understood continues to present with surprises. This heterogeneous makes diagnosis management challenges. The aim this review clinical features anat...

Septo-optic dysplasia (or de Morsier syndrome) is a congenital disorder characterised by anomalies in cerebral midline structures, optic nerve hypoplasia, and hormonal deficiencies. Diagnosis should be made early, due to the possibility of treating the hormonal disturbances. We describe here a case with decreased visual acuity, one-sided hemianopia, nystagmus und agenesis of the septum pellucid...

Polycystic ovary syndrome (PCOS) is a genetically based disorder which reflects multiple potential aetiologies and variable clinical presentations. It is clearly a heterogeneous syndrome, and current proposed diagnostic criteria include a number of disorders with similar phenotypes but radically different aetiologies. The lack of well-defined diagnostic criteria makes identification of PCOS con...

Children with acute encephalopathy show prolonged electrographic seizure activity consistent with nonconvulsive status epilepticus (NCSE). Pediatric NCSE is a heterogeneous clinical entity with poor outcome and different etiologies, including central nervous system infection, stroke, toxic-metabolic syndrome, and epileptic syndrome. We report a 4-year-old girl with seizure and behavioral change...

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been ...