ABSTRACT
Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease and improve the quality of life of children. Many rare diseases can be diagnosed with the help of various experimental techniques, but the diagnosis of rare diseases is still not widely understood. This article summarizes the laboratory diagnostic techniques currently used for rare genetic diseases in children, so as to provide clues for the diagnosis and treatment of such diseases and help to enhance the theoretical understanding and precise medical treatment of rare genetic diseases in children.
Subject(s)
Quality of Life , Rare Diseases , Child , Humans , Rare Diseases/diagnosis , Rare Diseases/genetics , Rare Diseases/therapyABSTRACT
Two new guaiacene-type sesquiterpenes 13α-dihydroixerin acid, ixerin acid and one new secoguaiacene-type sesquiterpene secoixerin Z, along with four known compounds, were separated from ethanol extract of Ixeris sonchifolia. The structures were determined based on the detailed spectroscopic and physicochemical methods. The cytotoxic activity of the isolates was tested against A549 cells. Among them, compound 3 exhibited potent cytotoxicity against A549 cells with the IC50 of 5.6 ± 0.9 µM.
Subject(s)
Asteraceae , Sesquiterpenes , Lactones/chemistry , Sesquiterpenes/pharmacology , Sesquiterpenes/chemistry , Asteraceae/chemistry , Magnetic Resonance Spectroscopy , Molecular StructureABSTRACT
To the best of our knowledge, thus far there are no reported cases of melanotic neuroectodermal tumor of infancy (MNTI) with multiple complications. In this case report, we describe the clinical phenotype of MNTI in a 9-month-old female infant associated with tetralogy of Fallot (TOF), a congenital heart defect, and congenital hypothyroidism (CH). Our study showed that the growth of MNTI was delayed by a lower dosage of levothyroxine (L-T4) that was prescribed to treat CH because of the presence of TOF, a severe congenital heart disease. However, the standardized dosage of L-T4 improved thyroid function but stimulated the rapid growth of MNTI. Our report demonstrated that treatment with L-T4 affects the progression of MNTI. Our findings demonstrated the role of thyroid hormone in MNTI growth and progression. Furthermore, our study suggested that the treatment of co-morbidities in children with MNTI requires careful consideration of their effects on the growth and progression of MNTI.
ABSTRACT
BACKGROUND: Autoimmune encephalitis (AE) is a type of encephalopathy mediated by an antigenic immune response in the central nervous system. Most research related to autoimmune encephalitis (AE) is focused on early diagnosis, treatment and prognosis analysis; there has been little research conducted on the characteristics of immune function, and the relationship between immune function and prognoses of patients with autoimmune encephalitis needs to be studied further. METHODS: A total of 33 children with autoimmune encephalitis were identified through the clinic database and inpatient consults at Tianjin Children's Hospital from January 2013 to January 2021. Based on the one-year follow-up and the modified Rankin Scale (mRS) prognosis score, they were divided into a good prognosis group and a poor prognosis group. The immune function characteristics of the two groups of children with autoimmune encephalitis (AE) were compared using Spearman correlation to analyse the mRS score and immune function indicators (IgA, IgG, IgM, CD4, CD8, CD4/CD8), and binary logistic regression was used to analyse the independent risk factors of the prognoses in patients with autoimmune encephalitis (AE). RESULTS: The differences in abnormal mental disorders and limb dyskinesia, cognitive impairment, onset types, modified Rankin Scale (mRS) scores at admission, and immune function status during remission between the two groups were statistically significant (p < 0.05). CONCLUSION: There is a close correlation between modified Rankin Scale (mRS) scores and the immune function index CD4/CD8 in children with autoimmune encephalitis (AE) when they are admitted to the hospital. A young age, disturbance of consciousness, limb dyskinesia, abnormal immune function in remission and anti-NMDAR encephalitis are risk factors for poor prognoses in children with autoimmune encephalitis (AE). Clinical treatment requires more attention.