Kabuki or Niikawa-Kuroki syndrome (KS) is a rare disorder with multiple malformations and recurrent infections, especially otitis media. This study aimed to investigate the genetic defects in Kabuki syndrome and determine if immune status is related to recurrent otitis media. Fourteen patients from 12 unrelated families were enrolled in the 9-year study period (2005-2013). All had Kabuki faces,...

Knowing the clinical warning signs of immunodeficiency (ID) in adulthood is crucial for early detection of the over 200 forms of primary ID known to date. Many of these congenital diseases with a genetic background already manifest in childhood. Antibody deficiency diseases represent an important exception, with common variable immunodeficiency (CVID) being the most common form of ID. The media...

This is a multicenter prospective cohort study to analyze the correlation of traditional Chinese medicine (TCM) syndrome evolvement and cardiovascular events in patients with stable coronary heart disease (CHD). The impact of syndrome evolvement on cardiovascular events during the 6-month and 12-month follow-up was analyzed using complex networks approach. Results of verification using Chi-squa...

a 7 year old boy with desanctis-cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

background: metabolic syndrome (ms) is an important risk factor that is associated with vitamin d deficiency, according to recent studies. this study aimed to evaluate the relationship between serum 25-hydroxyvitamin d level and risk of metabolic syndrome in children in birjand. materials and methods: a case-control study on 6 to 18 years old metabolic syndrome patients, this investigation was ...

bronchiectasis is a chronic debilitating condition characterized by abnormal dilated thick-walled bronchi. to investigate humoral immune function in bronchiectatic patients, this study was performed . forty patients with established diagnosis of bronchiectasis, who were referred from two tertiary care pulmonology centers in tehran, were investigated in this study. immunoglobulin isotypes concen...

the term congenital hypopituitarism defines deficiency of all of the pituitary hormones. hypoglycemia and microphallus (in males) are common findings, and some infants have shown evidence of the neonatal hepatitis syndrome. we report a case of congenital panhypopituitarism with deficiency of six major hormones and association with severe hypoglycemia, impaired liver function tests and congenita...

The emergence of vaccine-derived polioviruses (VDPVs) in patients with Primary Immunodeficiency (PID) is a threat to the polio-eradication program. In first its kind pilot study for successful screening and identification VDPV excretion among PID India, enteroviruses were assessed stool specimens 154 across India period two years. A total 21.42% tested positive enteroviruses, 2.59% (PV), wherea...