[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review].

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, with the characteristics of early onset of cancer and high cancer incidence. TP53 is widely accepted as a pathogenic gene of LFS. A 2 years and 6 months old boy is reported in this article, who was diagnosed with embryonal rhabdomyosarcoma (RMS) in the left submandibular region. His brother died of RMS, and his grandmother was diagnosed with breast cancer. TP53 gene mutation detection was performed in this patient and some family members, indicating a missense mutation in exon 8 of the patient: c.844C>T (p.Arg282Trp, heterozygous). TP53 mutation was also found in his mother and sister. The boy met the diagnostic criteria for LFS. Among pediatric patients, the most common LFS diseases include osteosarcoma, adrenocortical cancer, central nervous system tumor, and soft tissue tumor. Additionally, leukemia and lymphoma are also involved. LFS patients have a high risk to suffer secondary or even multiple cancers. Therefore, it is necessary to perform genetic detection for pediatric cancer patients, especially those with hereditary predisposition cancers. TP53 mutation often indicates poor prognosis, so it is important to take active treatment and systematic monitoring for LFS family.

[Adverse effects of high-dose methotrexate therapy].

OBJECTIVE: To investigate the adverse effects of high-dose methotrexate (HDMTX) therapy, and to provide a theoretical basis for optimizing clinical treatment. METHODS: A retrospective analysis was performed for the clinical data of 120 children with acute lymphoblastic leukemia or non-Hodgkin lymphoma who underwent 601 times of HDMTX therapy. The adverse effects of various systems were analyzed according to the WHO criteria for the classification of adverse effects of anticancer drugs. RESULTS: Almost all the children experienced bone marrow suppression, and 93.3% had granulocytopenia. The most common adverse effects in the digestive system and urinary system were elevated glutamic-pyruvic transaminase (60.4%) and proteinuria (9.2%) respectively. For skin symptoms, skin erythema had the highest incidence rate (7.2%). The adverse effects in the nervous system (hyperpathia, numbness of extremities, or headache) were only observed in 7 cases. Serious adverse effects were only seen in the blood system and digestive system. Compared with the 3 g/m2 methotrexate (MTX) group, the 5 g/m2 HDMTX group had a significantly higher 24-hour plasma MTX concentration, significant reductions in hemoglobin and platelet count, and significantly higher incidence rates of oral mucositis, proteinuria, and skin symptoms (P<0.05). CONCLUSIONS: Serious adverse effects of HDMTX therapy mainly involve the blood system and digestive system, and the adverse effects such as bone marrow suppression, oral mucositis, proteinuria, and skin symptoms occur in a dose-dependent manner.

Preparation and Characterization of Semi-Alicyclic Polyimide Resins and the Derived Alignment Layers for Liquid Crystal Display Technology.

Uniform alignment of rigid-rod liquid crystal (LC) molecules under applied voltage is critical for achievement of high-quality display for thin-film transistor-driven liquid crystal display devices (TFT-LCDs). The polymeric components that can induce the alignment of randomly aligned LC molecules are called alignment layers (ALs). In the current work, a series of organo-soluble polyimide (SPI) ALs were designed and prepared from an alicyclic dianhydride, hydrogenated 3,3',4,4'-biphenyltetracarboxylic dianhydride (HBPDA), and various aromatic diamines, including 4,4'-methylenedianiline (MDA) for SPI-1, 4,4'-aminodianiline (NDA) for SPI-2, 3,3',5,5'-tetramethyl-4,4'-diaminodiphenylmethane (TMMDA) for SPI-3, and 3,3'-diethyl-5,5'-dimethyl-4,4'-diaminodiphenylmethane (DMDEDA) for SPI-4. The derived SPI resins were all soluble in N-methyl-2-pyrrolidone (NMP). Four SPI alignment agents with the solid content of 6 wt.% were prepared by dissolving the SPI resins in the mixed solvent of NMP and butyl cellulose (BC) (NMP/BC = 80:20, weight ratio). Liquid crystal minicells were successfully fabricated using the developed SPI varnishes as the LC molecule alignment components. The SPI ALs showed good alignment ability for the LC molecules with the pretilt angles in the range of 1.58°-1.97°. The LC minicells exhibited good optoelectronic characteristics with voltage holding ratio (VHR) values higher than 96%. The good alignment ability of the SPI ALs is mainly attributed to the good comprehensive properties of the SPI layers, including high volume resistivity, high degree of imidization at the processing temperature (230 °C), good rubbing resistance, good thermal stability with glass transition temperatures (Tgs) higher than 260 °C, and excellent optical transparency with the transmittance higher than 97% at the wavelength of 550 nm.

In Utero Oxcarbazepine Exposure and Neonatal Abstinence Syndrome: Case Report and Brief Review of the Literature.

Oxcarbazepine is a second-generation antiepileptic drug that is used to treat partial seizures. Although it has been increasingly used in pregnant women, its fetal safety has not been fully validated. We describe a 12-hour-old neonate who developed neonatal abstinence syndrome (NAS) after intrauterine exposure to oxcarbazepine. The neonate was born via cesarean section to a mother who took oxcarbazepine 300 mg/day for treatment of seizures throughout her pregnancy. Approximately 12 hours after birth, the infant developed paroxysmal jitter, which mainly presented as increased excitability, irritability, limb shaking, and increased muscle tone. These symptoms resolved by day 9 of life. Although NAS occurs most often after in utero exposure to opioids, exposure to other drugs during pregnancy may contribute to a small proportion of NAS cases. To our knowledge, this is the second case report of oxcarbazepine-induced NAS. Pregnant women with epilepsy should weigh the pros and cons of continuing oxcarbazepine during their pregnancy when they are prescribed this drug. For infants with in utero oxcarbazepine exposure, comprehensive assessments and examinations are necessary for screening oxcarbazepine-induced NAS.