Prasad's syndrome is characterized by geophagia, growth retardation, hypogonadism, and zinc deficiency. We report a 15-year-old boy whose medical history and clinical and laboratory findings were fully compatible with Prasad's syndrome. In addition to severe growth retardation and pubertal delay, iron deficiency anemia and zinc deficiency were determined. His gliadin and endomysium antibodies w...

Abstract Background Pituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations. Short stature delayed puberty are present in most cases may be combined extra malformations. Magnetic resonance imaging considered the key factor for reaching definite diagnosis as it reveals different radiological presentations of t...

BACKGROUND Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. CASE REPORT Here, we report a rare case of glucose transporter type 1 deficiency syndrome caused by a different pathogenic ...

Syndrome differentiation is the characteristic and soul of Traditional Chinese Medicine (TCM), which has certain advantages in treatment hyperthyroidism. TCM mainly divides its syndrome into four types: exuberant liver fire type, yin deficiency qi-yin type phlegm stagnation type. This paper summarizes hyperthyroidism by differentiation, order to provide some reference for this disease.

Introduction: Megaloblasc anemia is an uncommon problem in childhood most frequently associated with vitamin deficiency or gastrointesnal disease. The common causes of megaloblasc anemia are vitamin B12 (cobalamin) deficiency and folic acid deficiency. Familial selecve malabsorpon of vitamin B12 associated with proteinuria firstly was described by Imerslund (1960) and Grasbeck et al (1960)...

Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR defi...

Creatine exerts beneficial effects on a variety of pathologies in which energy metabolism and oxidative stress play an etiological role. Creatine supplements have shown beneficial effects on neurological disorders including Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, Alzheimer's disease and stroke. However, the potential benefits of creatine for patients with convu...