Kohlschütter-Tönz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, and dysmorphologies. Genetic analysis has identified loss of function mutations within the coding region of the ROGDI and SLC13A5 genes in KTZS. In this report, we documented the clinical, radiological, electroencephalographic, and genetic results of a 3.5-year-old Turkish girl, born to nonconsanguineous parents, who was the first patient diagnosed with KTZS in Turkey. The patient presented with Rett syndrome-like phenotype, neurodevelopmental delay, refractory seizures, and amelogenesis imperfecta. After obtaining informed consent, chromosomal DNAwas extracted from the peripheral blood of our patient and her parents. To investigate the moleculardiagnosis of the patient, the clinical exome sequencing was performed. The Sanger sequencing analysiswas performed for all of the family members for the validation and segregation of this mutation. PubMed/Medline, Web of Science, and Google Scholar were also searched to find all of the publisheddata on KTZS. The literature comprises 18 published studies about KTZS. The genetic analysis of ourpatient revealed a novel homozygous c.201-1G>T mutation in the ROGDI gene. The same mutationwas also found to be heterozygous in her mother and father. The mutation caused alternative splicingof the ROGDI translation and resulted in a disruption of the ROGDI protein.

Objective: To investigate whether piperlongumine can sensitize prostate cancer cells to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and trigger apoptosis in prostate cells. Methods: Human prostate cancer cell lines PC3, LNCaP, and VCaP were cultured with piperlongumine and TRAIL. Then, cell proliferation, migration, caspase activation, apoptotic protein expressions, and death receptor expressions were measured. Results: Piperlongumine inhibited cell proliferation at low doses (<10 μM) alone and in combination with TRAIL (25 ng/mL), induced apoptosis, and suppressed cyclooxygenase activation. Additionally, piperlongumine induced expression of death receptors which potentiated TRAIL-induced apoptosis in cancer cells but did not affect decoy receptors. Piperlongumine also downregulated tumor cell-survival pathways, inhibited colony formation and migration of cancer cells alone or in combination with TRAIL. The combination of piperlongumine with TRAIL was found to be synergistic. Conclusions: Our findings indicate that piperlongumine can sensitize cancer cells to TRAIL through the upregulation of death receptors and can trigger apoptosis with the downregulation of anti-apoptotic proteins.

Salivary gland involvement is a rare presenting clinical feature of Wegener's granulomatosis (WG). Early recognition and identification of any unusual presentations of WG may enable the early commencement of appropriate treatment. We report a case in which the initial manifestation of the disease was parotid gland swelling, and discuss the management of the patient. WG should be considered in the differential diagnosis when salivary gland enlargement occurs with other otolaryngological symptoms.
Adult ; Biopsy ; Diagnosis, Differential ; Female ; Granulomatosis with Polyangiitis ; diagnosis ; Humans ; Parotid Gland ; diagnostic imaging ; pathology ; Tomography, X-Ray Computed