ABSTRACT
Objective:To explore the clinical features and diagnostic methods of primary ciliary dyskinesia (PCD).Methods:A case of PCD diagnosed by Kunming Children's Hospital was analyzed retrospectively (including general information, clinical characteristics, auxiliary examination results), and the literature was reviewed.Results:The patient, an 8-year-old female, went to hospital for repeated cough and suffered from pneumonia and sinusitis repeatedly in the past. The electron microscope of cilia biopsy showed that the number of cilia was reduced. The mutation of c.7615T>C (p.W2539R) in DNA H5 gene located in chr5-13,809,290 was detected by gene test, so the patient was diagnosed as PCD.The mutation site was a new mutation site.Conclusion:PCD is a rare disease in children. Electron microscopy and genetic examination are helpful to the diagnosis of PCD. Children with recurrent respiratory tract infection and wet cough should be alert to the possibility of PCD.
ABSTRACT
The clinical data of a child with anaplastic lymphoma kinase positive histiocytosis (ALK+ H) diagnosed in April 2020 by Kunming Children′s Hospital were retrospectively analyzed.The male child was 4 months and 29 days old and had multiple nodules throughout the body since 1 week after birth.Skin sarcoidosis examination showed non-Langerhans cell histiocytosis, and immunohistochemistry showed ALK (+ ), CD1a (-), and CD 163(+ ). Therefore, this patient was diagnosed as ALK+ H, which was very rare in clinical practice.Previously reported cases mainly showed soft tissue nodules or thrombocytopenia with anemia.In addition to multiple nodules throughout the body, this patient also had elevated platelets, neutropenia, and abnormal liver function, which was different from previous reports.Hence, this case could be used as a supplement to the disease database.
ABSTRACT
Objective To explore the diagnostic value of tumor necrosis factor-alpha (TNF-α) , interleukin-6 (IL-6) and neuron enolase (NSE) in the cerebrospinal fluid of children with central nervous sys-tem infection (CNSI).Methods 54 cases of CNSI hospitalized children ,admitted in the hospital from October 2015 to January 2017 ,were enrolled in the study and divided into viral meningitis group (30 cases) and suppu-rative meningitis group (24 cases).Another 20 cases who underwent cerebrospinal fluid examination and other related examinations were enrolled in the study as the control group.The levels of three biomarkers TNF-α , IL-6 and NSE in cerebrospinal fluid of three groups were detected by enzyme linked immunosorbent assay (ELISA).Results The levels of TNF-α ,IL-6 and NSE in purulent meningitis group were the hightest ,and the levels of these three factors in viral meningitis group were highter than the control group ,and the differ-ence was statistically significant in three groups (P＜0.05).But there were a lot of data overlaps.There was no significant difference in the levels of TNF-α ,IL-6 and NSE between the brain group and the control group (P＞0.05).Conclusion The detection of TNF-α ,IL-6 and NSE in cerebrospinal fluid has a certain clinical val-ue for the diagnosis of CNSI ,but it needs to be further verified by a large sample clinical trial.