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BACKGROUND
Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been shown to be effective and safe in the treatment of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC). The Everolimus For Fast Expanded aCcess in TSC SEGA (EFFECTS) study was
Tuberous sclerosis complex (TSC) is a relatively rare, autosomal dominant, and progressive neurocutaneous disorder involving multiple organs. Heterozygous mutations in the TSC1 gene located on chromosome 9 (9q34.13) or the TSC2 gene located on chromosome 16 (16p13.3) have been shown to Inhibitors of mammalian target of rapamycin (mTOR) are increasingly used as therapy for pediatric patients with tuberous sclerosis complex (TSC). The uncertainty over the efficacy and safety of mTOR inhibitor therapy for the treatment of pediatric patients with TSC emphasizes the necessity for a
The renal lesions characteristic of tuberous sclerosis are angiomyolipoma and cysts, with the former considered to be more common. Other renal tumors are rarely associated with tuberous sclerosis. Here we present a tuberous sclerosis patient with a renal leiomyoma which was detected incidentally
A 26 year-old woman with tuberous sclerosis who came to the Emergency Department with high fever, bilious vomit, right hemiabdomen pain and syncope during 2 weeks. Laboratory analyses show hemoglobin 6.7 g/dl, creatinine 1.5 mg/dl and leukocytes 30,000. Abdominal CT is performed because of suspicion
BACKGROUND
A 31-year-old woman with tuberous sclerosis complex presented with a 1 week history of subjective fever, chills, rigors, poor appetite and dizziness.
METHODS
Physical examination, urine and blood analysis, CT of the abdomen, chest and brain, and chest X-ray.
METHODS
End-stage renal
BACKGROUND
Tuberous sclerosis complex is a genetic disorder leading to constitutive activation of mammalian target of rapamycin (mTOR) and growth of benign tumours in several organs. In the brain, growth of subependymal giant cell astrocytomas can cause life-threatening symptoms--eg, hydrocephalus,
There are three distinct phases in the life of Zvonimir Susić--neurologist, psychiatrist, forensic expert, educator, teacher, translator, and erudite of general and professional knowledge--Zagreb, Rijeka and Zadar phase. In Zagreb (1926-1946) he was promoted to physician (1932), there he was a
We present a 37-year-old female with a history of tuberous sclerosis. She developed flank pain, hypotension, and a sudden drop in hemoglobin levels which prompted a work-up. A computed tomography scan demonstrated enlarged heterogeneous kidneys and a large complex collection in the right kidney,
The recently published, detailed cytogenetic-based physical map of chromosome 16 has the highest resolution of any autosomal cytogenetic map thus far constructed. The genetic map has been integrated with the cytogenetic map to facilitate the regional localization of disease genes by linkage. Disease
This paper is a summary of our observations on 105 cases of infantile spasms. The age of onset was around six months after birth, but the patients came for treatment mainly about one year after onset. Fever of unknown cause, asphyxia, birth injury, infection of the central nervous system, tuberous
This paper is a summary of our observations on 105 cases of infantile spasms. The age of onset was around six months after birth, but the patients came for treatment mainly about one year after onset. Fever of unknown cause, asphyxia, birth injury, infection of the central nervous system, tuberous
Tumor necrosis factor is a cytokine that participates in the mediation of numerous diseases associated with inflammation, cachexia, shock, and tissue injury. Early studies of the biology of TNF delineated its hormonal actions as well as its systemic toxicity. More recent investigations have drawn
The authors report their experience of 11 cases of renal angiomyolipoma over an interval of 20 years, observed in 10 women (90.9%) and one man (9.1%) with a mean age of 46 years (range: 21 to 63). Clinical symptoms were dominated by loin pain (100%), haematuria (45.4%), lumbar mass (72.7%), fever
In 10 years the diagnosis of renal angiomyolipoma (RAML) was made in 14 patients (male-to female ratio 1:3.7) at our institution; 1 case was associated with tuberous sclerosis (TS) and 1 case had regional lymph node involvement. A statistical study was done on data taken from 739 cases of RAML in