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...

Life-threatening hyperammonemia is uncommon in patients with mitochondrial disorders (MDs).When present, it is usualy due to TMEM70 deficiency [1] and only rarely is it noted in other MDs [2]. Hyperammonemia was documented in patients with Barth syndrome [2], maternally inherited Leigh syndrome (MILS) [3], pyruvate dehydrogenase deficiency [4], pyruvate carboxylase deficiency [5], complex III d...

Traditional Chinese medicine (TCM) syndrome, also called ZHENG, is the basis concept of TCM theory. It plays an important role in TCM practice. There are excess and deficiency syndromes in TCM syndrome. They are the common syndromes in chronic hepatitis B (CHB) patients. Here we aim to explore serum protein profiles and potential biomarkers for classification of TCM syndromes in CHB patients. 2...

BACKGROUND & AIMS Vitamin D deficiency has been recently associated with the metabolic syndrome. However, it is not known whether this possible association of vitamin D deficiency with the metabolic syndrome is still present at very high degrees of obesity, as in morbidly obese patients. METHODS Transversal, observational study that included 73 consecutive morbidly obese patients (body mass i...

BACKGROUND Vitamin D deficiency and insufficiency and the metabolic syndrome are two common health issues worldwide. The association between these two health problems is subject to debate. OBJECTIVES This study aims to investigate the association between vitamin D deficiency or insufficiency and the metabolic syndrome in a sample of osteoporotic postmenopausal women attending a family practic...

INTRODUCTION Vitamin D deficiency is a risk factor for metabolic syndrome disorders and the occurrence of these disorders greatly contributes to the deficiency of vitamin D. Postmenopausal women are particularly prone to that deficiency. AIM The aim of the study was to assess vitamin D concentration in the plasma of pre- and postmenopausal women, with or without metabolic syndrome. MATERIAL...