Dubowitz syndrome was first described in 1965 by the English physician Dr. Victor Dubowitz. This genetic disorder causes growth retardation both before and after birth. It is primarily diagnosed through the distinctive facial features of affected individuals, including a small triangular-shaped face with a high forehead and wide-set, slitted eyes. The main method of diagnosis is through identif...

The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was proposed ten years ago with the identification of the genes underlying hereditary periodic fever syndromes. NLRP3 inflammasome activation and IL-1β secretion have recently emerged as a central mechanism in the pathogenes...

Copper is an essential element for all living organisms, because it has key activities in the metabolic enzymes such as cytochrome oxidase and superoxide dismutase, and in the proteins essential for iron homeostasis such as ceruloplasmin and hephaestin. In humans, the daily copper requirement is low, therefore copper deficiency is not so frequently a condition. However, we should be aware that ...

This review examines the interaction of steroid hormones, glucocorticoids and estrogen, and gp120, a possible causal agent of acquired immune deficiency syndrome-related dementia complex. The first part of the review examines the data and mechanisms by which gp120 may cause neurotoxicity and by which these steroid hormones effect cell death in general. The second part of the review summarizes r...

We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported befo...

Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguish...

The cJun NH2-terminal kinase (JNK)-signaling pathway is implicated in metabolic syndrome, including dysregulated blood glucose concentration and insulin resistance. Fibroblast growth factor 21 (FGF21) is a target of the hepatic JNK-signaling pathway and may contribute to the regulation of glycemia. To test the role of FGF21, we established mice with selective ablation of the Fgf21 gene in hepat...

OBJECTIVE To determine electroencephalographic signs of dopamine deficiency syndrome during the recovery after severe brain injury (SBI). MATERIAL AND METHODS We studied 35 patients with SBI (23 men and 12 women, mean age 29 ± 13 years). RESULTS AND CONCLUSION We identified a set of neurological symptoms (increased muscular tone of extrapyramidal type, rest tremor, autonomic disorders, whic...

Leptin and adiponectin represent two newly discovered adipose tissue derived hormones with important roles in energy homeostasis and insulin resistance. Their interrelations with the manifestations of the HIV associated metabolic syndrome and specific somatomorphic changes i.e. fat redistribution is reviewed. A synopsis of published studies is presented and the potential role of leptin and adip...

In both the scientific literature and lay press, new attentions recently have been focusing on low testosterone states in the aging male. This syndrome has been referred to as andropause, androgen deficiency in the aging male (ADAM), partial androgen deficiency in the aging male (PADAM), male climacteric, relative hypogonadism and hypoandrogenemia. There is neither agreement on the syndrome’s n...