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Clinical data of a child with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) diagnosed in the First Affiliated Hospital of Zhengzhou University in June 2020 were retrospectively analyzed.A female patient with 1 year and 2 months old presented with 10 months of developmental delay and 1 month of recurrent seizures.Physical examinations showed grade Ⅲ muscle strength of limbs, slightly higher muscle tone, active reflex of bilateral knee tendons, normal reflex of bilateral achilles tendons, and positive Babinski sign.Brain magnetic resonance imaging (MRI) showed bilateral cerebral hemisphere atrophy and diffuse abnormal signals.The whole exome sequencing test showed two heterozygous mutations of the DARS2 gene in the present case.There are no reports of early-onset LBSL gene mutation in Chinese population.A total of 6 related foreign literatures have been reported.All affected cases present psychomotor development disorders and other encephalopathy manifestations.Brain MRI involvement and DARS2 gene mutations are found in previous reports.Therefore, for children with developmental retardation, epilepsy, and diffuse abnormal signals in both cerebral hemispheres examined by brain MRI, genetic testing is recommended to confirm the diagnosis, guide prenatal diagnosis and genetic counseling.
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Objective:To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome.Methods:The data of 3 children with febrile infection-related epilepsy syndrome admitted to the First Affiliated Hospital of Zhengzhou University from May to June 2019 were collected retrospectively, and their clinical characteristics, diagnosis, treatments and prognosis were summarized in combination with relevant literature.Results:The age of onset was 6-9 years old.The time interval from fever to first convulsion was 4-7 days, and they progressed to status epilepticus within 24 hours.The seizures were mainly multifocal seizures.Cerebrospinal fluid laboratory examination was normal.Electrocardiogram shows diffuse slow wave activity as the background, and epileptic waves dominated by the temporal area.Cranial magnetic resonance imaging showed signs of edema in 2 cases during the acute phase.All patients were resistant to multiple (4-5) anti-epileptic drugs, but high-dose anesthetic drugs can effectively terminate status epilepticus.All cases developed into refractory epilepsy, 2 cases had cognitive impairment and 1 case had movement impairment after 1 year.Conclusion:Febrile infection-related epilepsy syndrome often occurs in school-age children who have been physically healthy, which was included by fever.The seizures are explosive and refractory in febrile infection-related epilepsy syndrome, and it lacked specific laboratory indicators.High-dose anesthetics can effectively terminate status epilepticus, but it always has a poor prognosis.
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Retrospective analysis of the clinical data of a child with type 102 mental retardation caused by DDX3X gene mutation in the pediatric diagnosis of the First Affiliated Hospital of Zhengzhou University in April 2019.A 2 years and 3 months old girl with " delay for more than 1 year" , using second-generation sequencing technology for full exon detection, and the result is DDX3X gene 13 th exon c. 1463G>A hybridization mutation, this is a new mutation.There are no Chinese cases reported with DDX3X gene mutations, and there are 8 related cases were reported in foreign literature, all children have different degrees of intellectual disability.So patients with unexplained intellectual disability(especially female patients) need to be wary of the possibility of DDX3X gene mutation.
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Objective@#To analyze the clinical and pathological features and prognostic factors of neuroendocrine carcinoma of the cervix (NECC).@*Methods@#The clinical data of 35 cases of NECC treated in Shanxi Provincial Cancer Hospital from January 2006 to May 2014 were retrospectively analyzed.@*Results@#The median age of 35 cases of NECC was 43 years old. The infection rate of human papillomavirus (HPV) 18 type was 66.7% (10/15) in 15 NECC patients who were tested with HPV. The accuracy rate of diagnosis was 14.3% (5/35) before procedure. The positive detection rate of Syn, CgA, AE1/AE3, P63 and NSE were respectively 100.0% (35/35), 80.0% (28/35), 100.0% (35/35), 34.3% (12/35) and 57.1% (20/35). The 3-year overall survival rate of 35 NECC cases was 34.29% (12/35). The age, volume of local tumor and degrees of interstitial infiltration were the main prognostic factors of patients with NECC(all P < 0.05).@*Conclusions@#NECC is easily misdiagnosed by pathomorphological examination alone, the accuracy of diagnosis could be improved by detecting neuroendocrine carcinoma markers with immunohistochemical method. The infection rate of HPV18 is higher than the others in NECC. The volume of local tumor is one of the main prognostic factors for NECC patients.
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Objective To evaluate the significance of human papillomavirus L1 capsid protein (HPVL1) and human telomerase RNA component (hTERC) gene in the cytologic specimens of cervix which was infected by the high-risk types of human papillomavirus (HR-HPV),and to expose their relationship with cervical lesions.Methods The fluorescence signal of cytologic samples of cervix were detected by interphase FISH in chromosome enumeration double-color DNA probes TERC.The expression of HPVL1 capsid protein was detected by MaxVision immunohistochemistry method.300 samples were analyzed with HR-HPV positive from the cervical biopsy.The diagnoses as normal or chronic inflammation (n =45),cervical intraepithelial lesions Ⅰ grade (CIN Ⅰ,n =95),CIN Ⅱ (n =58),CIN Ⅲ (n =64),and squamous cervical cancer (SCC,n =37).Results The percentage of HPVL1 positive rates in normal or chronic inflammation,CIN Ⅰ,CIN Ⅱ,CIN Ⅲ and SCC groups were 58.70 ％ (27/46),63.16 ％ (60/95),37.93 ％ (22/58),10.94 ％ (7/64) and 0 (0/37),respectively.The percentage of HPVL1 decreased along with the increase of severity of the cervical intraepithelial lesions.Genomic amplification of hTERC positive rates in normal or chronic inflammation,CIN Ⅰ,CIN Ⅱ,CIN Ⅲ and SCC groups were 6.52 ％ (3/46),11.58 ％ (11/95),51.72 ％ (30/58),85.94 ％ (55/64) and 100.00 ％ (37/37),respectively.The percentage of hTERC increased along with the severity of the cervical intraepithelial lesions (rs =0.302,P ＜ 0.01).The percentage of HPVL+/hTERC-was 57.89 ％ in CIN Ⅰ group and 4.69 ％ in CIN Ⅲ group.The percentage of HPVL-/hTERC+ was 6.32 ％ in CIN Ⅰ group and 79.69 ％ in CIN Ⅲ group.Conclusion The detection of HPVL1 and hTERC are important for assisting cervical lesions screening and monitoring of disease progression in the HR-HPV positive cytologic specimens.