A retrospective clinical analysis of 17 cases of renal cell carcinoma with Stauffer syndrome / 现代泌尿外科杂志

【Objective】 To explore the diagnosis, treatment and prognosis of renal cell carcinoma (RCC) patients with Stauffer syndrome. 【Methods】 The clinicopathological and follow-up data of 17 RCC patients with Stauffer syndrome who underwent operation during Sep.2014 and Aug.2019 were retrospectively analyzed. The survival was analyzed with Kaplan-Meier curve and log-rank, and related factors affecting the prognosis were determined with univariate and multivariate Cox regression model. 【Results】 The pathological results included clear cell RCC in 14 cases, papillary RCC in 2 cases, and poorly differentiated tissue in 1 case. The liver function recovered within 3 months after operation in 5 cases, within 6 months in 3 cases, within 1 year in 4 cases, and did not recover in 3 cases. During the follow up of 6 to 72 (average 54.1) months, the 1-, 3-, and 5-year survival rates were 88.2% (15/17), 76.5% (13/17) and 52.9% (9/17), respectively. Survival analysis showed that the cancer-specific survival (CSS) of RCC patients with Stauffer syndrome was low, and tumor size, AJCC stage, lymph node metastasis and Stauffer syndrome were predictors of poor prognosis. 【Conclusion】 The prognosis of RCC patients with Stauffer syndrome is poor, and early surgical intervention should be conducted. The liver function of most patients can return to normal gradually after surgery. Continuous examination of liver function has significant meaning for tumor recurrence, metastasis and prognosis.

Clinical characterization and genetic analysis of 5 Chinese families with glucokinase gene mutations / 中华内分泌代谢杂志

Objective:To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1: c.555delT (P.leu186CysFS Ter19) and M3: c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes. Conclusion:Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.

Clinical characteristics and genetic analysis of familial hypocalciuric hypercalcemia type 1 / 中华内分泌代谢杂志

A case of familial hypocalciuric hypercalcemia type 1 (FHH1) was reported detailing the course of diagnosis and treatment. The main clinical manifestations of the patient were recurrent pancreatitis with moderate hypercalcemia and low urinary calcium. The C→T heterozygous missense mutation at nucleotide 2 393 with conversion of codon Pro798 to Leu (p.P155L) in CaSR gene was identified. Serum calcium and parathyroid hormone levels of the patient were decreased significantly after treatment with cinacalcet.

Vitamin D supplementation improves testicular function in aging rats induced by D-galactose / 中华内分泌代谢杂志

Objective:To investigate the effects and potential mechanism of vitamin D supplementation on testicular function in aging rats induced by D-galactose.Methods:The aging rats were induced by D-galactose with subcutaneous injection. The animals were randomly divided into 6 groups: aging rats (DG), aging rats with low-dose vitamin D supplementation (LD), aging rats with high-dose vitamin D supplementation (HD), normal control rats(NC), normal rats with low-dose vitamin D supplementation(LN), normal rats with high-dose vitamin D supplementation (HN). The body weight, testicular weight, serum testosterone concentrations and sperm quality of the rats in each group were measured. The testis morphological changes were detected using light microscopy. The activity of superoxide dismutase (SOD) and level of malondialdehyde(MDA) were determined with spectrophotometer. The expression levels of Nrf2, GCLC, SOD2 and VDR in testis were detected by western blot.Results:At baseline, compared with NC group, testicular weight, serum testosterone level, SOD activity, Nrf2, GCLC and SOD2 expression levels were significantly decreased in DG group, while MDA level was significantly increased. After vitamin D supplementation, testicular weight, testosterone levels and SOD activity in both of HD and LD groups were significantly increased, while the MDA level was significantly decreased. The expression levels of Nrf2, GCLC, SOD2 and VDR were significantly increased.Conclusion:Vitamin D supplementation may enhance the testicular antioxidant capacity through activating Nrf2-ARE signaling pathway, and improve the testicular function in D-galactose-induced aging rats.

Clinical characteristics and pathogenic distribution of late-onset sepsis among premature infants with gestational age less than 34 weeks in Henan Province / 中华临床感染病杂志

Objective:To analyse the pathogenic bacteria distribution and clinical characteristics of late-onset sepsis (LOS) among premature infants with gestational age less than 34 weeks in Henan Province.Methods:The clinical data of 6 590 premature infants admitted to 17 medical institutions in Henan Province from January 2019 to December 2020 were retrospectively analyzed. The gestational age of infants was less than 34 weeks and was admitted to the neonatal ward within 7 days after birth. SPSS 19.0 statistical software was used for data analysis.Results:Among 6 590 premature infants LOS developed in 751 cases (11.40%), of whom the diagnosis was confirmed in 276 cases (36.75%) and 475 cases (63.25%) were diagnosed clinically. The fatality rate related to LOS was 13.58%. There were significant differences in the incidence of LOS and infection-related mortality among infants with different gestational ages and body weights ( χ2=388.894 and 13.572, χ2=472.282 and 9.257, P<0.05 or <0.01). Among 276 children with confirmed LOS, 286 strains of pathogenic bacteria were isolated. Gram-negative bacteria were most prevalent (178 strains), accounting for 62.24% of all infections, followed by fungi (58 strains, 20.28%). Klebsiella pneumoniae was most frequently detected Gram-negative bacteria (117 strains, 40.91%), among which 32.48% (38/117) was carbapenem-resistant Klebsiella pneumoniae. The proportion of diagnosed sepsis, the proportion of catheterization, and the infection-related mortality of infants with LOS in tertiary hospitals were all higher than those in secondary hospitals ( χ2=6.212, 5.313 and 4.435, all P<0.05). The proportion of exclusive breastfeeding in secondary hospitals was lower than that in tertiary hospitals ( χ2=19.216, P<0.05). The time of antibacterial drug use before infection in specialized hospitals was longer than that in general hospitals ( χ2=3.276, P<0.05). Conclusion:The incidence of LOS among preterm infants in Henan Province is high, which was mainly caused by Gram-negative bacteria. The clinical characteristics of LOS caused by different pathogens and in different health institutions are different, the prevention and control strategy should be developed accordingly to reduce the incidence LOS of preterm premature infants.

Genotype-phenotype and genetic analysis in five patients with Kallmann syndrome / 中华内分泌代谢杂志

To study the genotype-phenotype and genetic characteristics of Kallmann syndrome. Five patients with Kallmann syndrome were enrolled. Clinical data collection, chromosome karyotyping, whole exome sequencing (WES), and multiplex ligation-dependent probe amplification (MLPA) were used. All the five patients were males, aging from 2 months to 45 years old. Three of the five patients complained cryptorchidism, one complained gonadal dysgenesis, and one complained fasting hyperglycemia. The clinical feature was hypogonadotropic hypogonadism with anosmia, and all karyotype was 46 XY. Magnetic resonance imaging (MRI) showed undeveloped olfactory bulbs and tracts. Kallmann syndrome related gene novel variants were found in all the 5 patients. The hypoplasia of right kidney was found in a patient with c. 1795_1799del (p.Asn599Profs*66) of anosmin 1 (ANOS1) variant. Clinical heterogeneity and incomplete penetrance were seen in a patient with c. 2824A>G (p.Thr942Ala) of chromodomain helicase DNA binding protein 7 (CHD7). Besides, WES indicated a 109 bp-deletion on Xp22.31 (chrX: 8507699-8507804), which was the deletion of exon 10 on ANOS1 gene verified by MLPA. The deletion variant was inherited form his mother, and conformed to X-linked recessive inheritance. Kallmann syndrome is genetic and clinical heterogeneous. WES is helpful for early diagnosis. MLPA and genome copy number variation analysis (CNV) are also recommend if necessary.

Approach to the patients with Langerhans cell histiocytosis first manifested as central diabetes insipidus / 中华内分泌代谢杂志

Three cases of Langerhans cell histiocytosis (LCH)with central diabetes insipidus as the first manifestation were reported, with the summary of their clinical manifestations, laboratory examinations, imaging examinations, pathological results, diagnosis process, and treatment response. All three patients presented with central diabetes insipidus in the early stage. The pituitary magnetic resonance imaging (MRI)showed thickened pituitary stalks, and all lost the normal high signal of the posterior pituitary. Two patients showed isolated hypothalamic-pituitary lesions, while one case showed pituitary and thyroid systems involvement. Pathological findings showed typical Langerhans cells, immunohistochemistry showed positive for S-100, CD1a, Langerin. The clinical manifestations of LCH manifested distinct heterogeneity, which is easy to be misdiagnosed and left out. The diagnosis should be confirmed by pathological examination. The biopsy of isolated hypothalamic-pituitary lesions is difficult. It is recommended to actively screen other organs to increase the probability of biopsy. LCH-induced neurohypophysis requires life-long hormone replacement therapy.

A 21-hydroxylase deficiency boy with central precocious puberty: Three-year follow-up study / 中华内分泌代谢杂志

Objective:To report the diagnosis, treatment, and follow-up of a 21-hydroxylase deficiency boy with central precocious puberty caused by complex heterozygous mutation of CYP21A2 gene.Methods:The child was symptomatic of rapid growth and secondary sexual characteristics at the age of 6. The diagnosis of central precocious puberty was confirmed by serum testosterone, gonadotropin levels, and gonadotropin-releasing hormone (GnRH) stimulation test. 21-hydroxylase deficiency was diagnosed clinically based on the serum adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone levels, and images on the computed comography (CT) of the adrenal glands.Results:The CYP21A2 gene was detected to have a compound heterozygous mutation by Sanger sequencing and multiplex ligation-dependent probe amplification. During the 3 years follow-up, the effects of glucocorticoids, GnRH analogs, and recombinant human growth hormone were regularly monitored and evaluated.Conclusions:Glucocorticoid replacement followed the principle of the lowest effective dose. GnRH analogs showed an effective inhibition of the hypothalamus-pituitary-gonadal axis, while recombinant human growth hormone had no such growth-promoting effect.

Cytogenetic and molecular genetics of a rare case with Turner syndrome / 中华内分泌代谢杂志

Turnner syndrome is a common sex chromosome disorder. We reported a rare case with Turnner syndrome caused by abnormal number and structure of sex chromosomes. Hereby fluorescence in situ hybridization (FISH) and copy number variation by whole genome low depth sequencing (CNV-seq) were used to clarify the abnormal chromosome. This study provides a diagnostic strategy for clinicians and genetic researchers.

Effect of Heat inactivation on Real-Time Reverse Transcription PCR of the SARS-COV-2 Detection

Real-time reverse transcription PCR (rRT-PCR) is commonly used to diagnose SARS-CoV-2 infection. Heat inactivation prior to nucleic acid isolation may allow safe testing, while the effects of heat inactivation on SARS-CoV-2 rRT-PCR detection result need to be determined. 14 positive nasopharyngeal swab specimens were inactivated at 56{degrees}C for 30min, 56{degrees}C for 60min, 60{degrees}C for 30min, 60{degrees}C for 75min, and 100{degrees}C for 10min, then were detected by rRT-PCR. All 14 heat treated samples remained positive. Another 2 positive nasopharyngeal swab specimens were inactivated at 100{degrees}C for 10min, 100{degrees}C for 30min, and 100{degrees}C for 60min, after which the samples were isolated and detected by rRT-PCR. The range of threshold cycle (Ct) values observed when detecting ORF1a/b was 27.228-34.011 in heat-treated samples, while 25.281-34.861 in unheated samples, and the range of threshold cycle (Ct) values observed at the time of detecting N was 25.777-33.351 in heat-treated samples, while 24.1615-35.433 in unheated samples, on basis of which it showed no statistical difference otherwise a good correlation of Ct values between the heat-inactivated samples and the untreated samples. However, the 2 samples inactivated at 100{degrees}C 30min, 100{degrees}C 60min turned into negative. Heat inactivation at 56{degrees}C for 30min, 56{degrees}C for 60min, 60{degrees}C for 30min, 60{degrees}C for 75min, and 100{degrees}C for 10min shall not affect the detection results of Real-Time Reverse Transcription PCR of the SARS-COV2. Furthermore, it is recommended to inactive nasopharyngeal swab specimens 10min at 100{degrees}C before RNA extraction in consideration of efficiency and reliable results.

Immunopathological characteristics of coronavirus disease 2019 cases in Guangzhou, China

Coronavirus disease 2019 (COVID-19) is a respiratory disorder caused by the highly contagious SARS-CoV-2. The immunopathological characteristics of COVID-19 patients, either systemic or local, have not been thoroughly studied. In the present study, we analyzed both the changes in the cellularity of various immune cell types as well as cytokines important for immune reactions and inflammation. Our data indicate that patients with severe COVID-19 exhibited an overall decline of lymphocytes including CD4+ and CD8+ T cells, B cells, and NK cells. The number of immunosuppressive regulatory T cells was moderately increased in patients with mild COVID-19. IL-2, IL-6, and IL-10 were remarkably up-regulated in patients with severe COVID-19. The levels of IL-2 and IL-6 relative to the length of hospital stay underwent a similar "rise-decline"pattern, probably reflecting the therapeutic effect. In conclusion, our study shows that the comprehensive decrease of lymphocytes, and the elevation of IL-2 and IL-6 are reliable indicators of severe COVID-19.

Development of CRISPR as a prophylactic strategy to combat novel coronavirus and influenza

The outbreak of the coronavirus disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome coronavirus 2 (SARS-CoV-2), has infected more than 100,000 people worldwide with over 3,000 deaths since December 2019. There is no cure for COVID-19 and the vaccine development is estimated to require 12-18 months. Here we demonstrate a CRISPR-Cas13-based strategy, PAC-MAN (Prophylactic Antiviral CRISPR in huMAN cells), for viral inhibition that can effectively degrade SARS-CoV-2 sequences and live influenza A virus (IAV) genome in human lung epithelial cells. We designed and screened a group of CRISPR RNAs (crRNAs) targeting conserved viral regions and identified functional crRNAs for cleaving SARS-CoV-2. The approach is effective in reducing respiratory cell viral replication for H1N1 IAV. Our bioinformatic analysis showed a group of only six crRNAs can target more than 90% of all coronaviruses. The PAC-MAN approach is potentially a rapidly implementable pan-coronavirus strategy to deal with emerging pandemic strains.

High mobility group box 1 antibody represses autophagy and alleviates hippocampus damage in pilocarpine-induced mouse epilepsy model.

As a neurological disorder, epilepsy has affected over 65 million people all over the world because of the unforeseeable seizures it might cause. However, in-depth understandings of the pathogenesis of epilepsy and effective treatments for the disease are still lacked. Recent discoveries suggest that autophagy, as an endogenous self-cleansing pathway in mammals, might be involved in the onset of epilepsy. Our study assumes that a non-histone DNA binding protein, high mobility group box-1 (HMGB1), formerly considered as a crucial inflammatory factor, may mediate the autophagy of neurons in epileptic mouse brain. To verify this hypothesis, pilocarpine induced epilepsy mouse model was constructed. The mice were treated with HMGB1 antibody for 4 weeks after the initial epileptic seizure. Behavioral test results suggested a recovery of learning ability and memory in epileptic mice when treated with HMGB1 antibody. Pathological changes in hippocampus were inspected under microscopes and hippocampus damages caused by seizures in mouse with epilepsy such as increased intracellular space were alleviated by HMGB1 antibody treatment. Moreover, the expressions of the proteins involved in autophagy pathways were detected by immunofluorescence staining and western blot. microtubule-associated protein 1A/1B-light chain 3 (LC3), Beclin 1, autophagy protein-5 (ATG5), and ATG7 levels were significantly decreased by HMGB1 antibody while the level of p62 was increased. TdT-mediated dUTP Nick-End Labeling (TUNEL) illustrated that cell apoptosis induced by seizures in hippocampus was mitigated by HMGB1 antibody. In conclusion, we propose that HMGB1 may induce increased autophagy in epilepsy mouse model.

The clinical and radiological features of myelin oligodendrocyte glycoprotein antibody associated disease / 中华神经科杂志

Objective@#To explore the clinical and radiological features of myelin oligodendrocyte glycoprotein (MOG) antibody associated disease.@*Methods@#The clinical data of 22 MOG antibody associated disease cases treated in the Department of Neurology, Qilu Hospital of Shandong University from January 2017 to June 2019 were retrospectively analyzed. The clinical data of MOG antibody associated disease were summarized, including clinical and imaging features.@*Results@#Of the 22 included patients with MOG antibody associated disease, the average age was 38.5 years, 13 were male and nine were female. Among them, 11 cases manifested as aquaporin-4 (AQP4)-negative neuromyelitis optica spectrum disorder (NMOSD), four cases optic neuritis, two cases transverse myelitis, one case acute disseminated encephalomyelitis (ADEM), two cases cortical encephalitis and two cases vestibular neuronitis. Magnetic resonance imaging (MRI) results showed that multiple anatomical areas were involved. Among the nine patients with optic nerve involvement, five patients had longitudinally extensive optic nerve lesions, which were longitudinally enhanced. In eight patients, MRI lesions in the spinal cord showed mostly long or short segments involvement, involving 2-5 spinal cord segments. Five cases involved the cervical spinal cord, six cases involved the thoracic spinal cord, and one case involved the lumbar spinal cord. Brain MRI abnormalities were found in 13 cases and the lesions were mostly patchy and point-shaped. MRI lesions demonstrated T2 hyperintensity and some of them could be strengthened, which may involve the basal ganglia, thalamus, radiographic crown, frontal temporal lobe, brain stem and other parts. Among them, 16 patients were sensitive to high-dose intravenous/oral methylprednisolone in the acute phase. Seven patients had recurrence after two months to two years of follow-up.@*Conclusions@#MOG antibody associated disease include multiple manifestations. Among them, AQP4-negative NMOSD is the most common form. The clinical manifestations of patients showed diversity. Imaging is characterized by multiple parts involvement such as optic nerve, spinal cord, and brain. Most patients are sensitive to high-dose intravenous/oral methylprednisolone, and have a good prognosis in the acute phase, but some patients may relapse.

Expressions of multiple inflammation markers in the patients with 2019 novel coronavirus pneumonia and their clinical values / 中华检验医学杂志

Objective@#To explore the Expressions of multiple inflammation markers in the patients with 2019 novel coronavirus pneumonia (COVID-19) and their clinical values, and to provide theoretical basis for clinical diagnosis and treatment.@*Methods@#A total of 164 patients, diagnosed with COVID-19 and admitted to Guangzhou Eighth People's Hospital from January to February 2020, were selected as the research group and divided into three groups (ordinary, severe, and critically severe pneumonia) according to the disease severity. Meandwhile 66 non-infected patients during the same period were selected as negative control group. The expressions of WBC, LYM, CRP, SAA, and PCT were retrospective studied and compared between groups. The diagnostic values of WBC, CRP, SAA and the combination of these three markers in all patients with COVID-19 and in different severity groups were analyzed by ROC curve.@*Results@#Compared with control group (WBC count :8.13(6.51,9.42)×109/L, LYM count:2.00(1.28,2.43)×109/L), WBC count [4.94(4.05, 6.67) ×109/L] and LYM count [1.33(0.94, 1.96) ×109/L] of COVID-19 patients were significantly reduced (Z=-7.435, P<0.01; Z=-4.906, P<0.01) . Compared with the control group [CRP: 1.36 (0.57~5.67) mg/ml; SAA:[4.98 (4.80~15.75) mg/mL], CRP [7.93 (2.45~23.98) mg/ml] and SAA [34.13 (4.83~198.40) mg/ml] were increased in research group (Z=-5.72, P<0.01; Z=-4.166, P<0.01) . PCT in the control group and the research group were 0.100 0(0.030 6~0.100 0)ng/ml and 0.044 5(0.031 6~0.077 0)ng/ml, respectively. There was no statistical difference between two groups (Z=-1.451, P=0.147) . The areas under the ROC curve (AUC) of WBC, CRP and SAA in patients with COVID-19 were 0.814, 0.742, 0.673, respectively (P<0.01), while the AUC of the combination of three indexes for COVID-19 diagnosis was 0.882, with 83.33%(55/66) specificity and 84.76% (139/164) sensitivity, P<0.01.The AUCs of WBC, CRP, and SAA for predicting severe and critically severe COVID-19 were 0.799, 0.779, and 0.886 , respectively (P<0.01), and the AUC of the combination of three indexes for the diagnosis of severe and critically severe COVID-19 was 0.924, with 78.67% (118/150) specificity and 14/14 sensitivity (P<0.01).@*Conclusion@#Combining detection of WBC, CRP and SAA can improve the specificity and sensitivity of COVID-19 diagnosis, with a high diagnostic value for severe and critically severe COVID-19.

Expressions of multiple inflammation markers in the patients with COVID-19 and their clinical values / 中华检验医学杂志

Objective:To explore the expressions of multiple inflammation markers in the patients with COVID-19 and their clinical values, and to provide theoretical basis for clinical diagnosis and treatment.Methods:A total of 164 patients, diagnosed with COVID-19 and admitted to Guangzhou Eighth People′s Hospital from January to February 2020, were selected as the research group and divided into three groups (ordinary, severe, and critically severe pneumonia) according to the disease severity. Meanwhile 66 non-infected patients during the same period were selected as negative control group. The expressions of white blood cell (WBC), lymphocyte (LYM), C-reactive protein (CRP), serum amyloid A protein (SAA), and procalcitonin (PCT) were retrospective studied and compared between groups. The diagnostic values of WBC, CRP, SAA and the combination of these three markers in all patients with COVID-19 and in different severity groups were analyzed by receiver operator characteristic (ROC) curve.Results:Compared with control group [WBC count:8.13(6.51,9.42)×10 9/L, LYM count:2.00(1.28,2.43)×10 9/L], WBC count [4.94(4.05, 6.67) ×10 9/L] and LYM count [1.33(0.94, 1.96) ×10 9/L] of COVID-19 patients were significantly reduced ( Z=-7.435, P<0.01; Z=-4.906, P<0.01) . Compared with the control group [CRP: 1.36 (0.57~5.67) mg/ml; SAA:4.98 (4.80-15.75) mg/ml], CRP [7.93 (2.45-23.98) mg/ml] and SAA [34.13 (4.83-198.40) mg/ml] were increased in research group ( Z=-5.72, P<0.01; Z=-4.166, P<0.01) . PCT in the control group and the research group were 0.100 0(0.030 6-0.100 0)ng/ml and 0.044 5(0.031 6-0.077 0)ng/ml, respectively. There was no statistical difference between two groups ( Z=-1.451, P=0.147) . The areas under the receiver operator characteristic curve (AUC) of WBC, CRP and SAA in patients with COVID-19 were 0.814, 0.742, 0.673, respectively ( P<0.01), while the AUC of the combination of three indexes for COVID-19 diagnosis was 0.882, with 83.33%(55/66) specificity and 84.76% (139/164) sensitivity, P<0.01.The AUCs of WBC, CRP, and SAA for predicting severe and critically severe COVID-19 were 0.799, 0.779, and 0.886, respectively ( P<0.01).The AUC of the combination of three indexes for the diagnosis of severe and critically severe COVID-19 was 0.924, with 78.67% (118/150) specificity and 14/14 sensitivity ( P<0.01). Conclusion:Combining detection of WBC, CRP and SAA can improve the specificity and sensitivity of COVID-19 diagnosis, with a high diagnostic value for severe and critically severe COVID-19.

Autosomal dominant lateral temporal lobe epilepsy with heterozygous RELN mutation：one family report and literature review / 中华神经科杂志

Objective:To investigate the clinical features, imaging features, gene diagnosis, treatment and prognosis of autosomal dominant lateral temporal epilepsy (ADLTE) with heterozygous RELN mutation.Methods:Clinical data of an ADLTE family caused by a heterozygous mutation in the RELN gene diagnosed in September 2019 at Qilu Hospital of Shandong University were collected. The clinical characteristics of ADLTE were analyzed, and literature review was conducted.Results:The male proband, 22 years old, was admitted with the clinical manifestations including seizures begun at temporal lobe, which specifically manifested as a sudden emergence of binaural hum, lasting for more than 10 seconds, and the symptoms can self-recover quickly. Half a month later, generalized tonic-clonic seizures attacked subsequently after a similar auditory aura. There were no abnormal findings in interictal electroencephalography (EEG) and magnetic resonance imaging (MRI). Following the family history, his father had similar auditory symptoms around the age of 20, and occasional secondarily generalized tonic-clonic seizures appeared. Antiepileptic drug can control better. The whole exome sequencing of three people in the family revealed that both the proband and his father had NM-005045: c.6068T>C heterozygous mutation in the RELN gene.Conclusions:ADLTE mostly occurs in juveniles or early adulthood. The main clinical manifestations are focal seizures with auditory auras, which can be followed by generalized tonic-clonic seizures. There are no abnormal findings in the interictal EEG and MRI. ADLTE is sensitive to drug treatment and has good clinical prognosis. The study identified a novel heterozygous mutation NM-005045: c.6068T>C in RELN gene, which is responsible for the development of ADLTE.

The clinical and radiological features of myelin oligodendrocyte glycoprotein antibody associated disease / 中华神经科杂志

Objective To explore the clinical and radiological features of myelin oligodendrocyte glycoprotein (MOG) antibody associated disease.Methods The clinical data of 22 MOG antibody associated disease cases treated in the Department of Neurology,Qilu Hospital of Shandong University from January 2017 to June 2019 were retrospectively analyzed.The clinical data of MOG antibody associated disease were summarized,including clinical and imaging features.Results Of the 22 included patients with MOG antibody associated disease,the average age was 38.5 years,13 were male and nine were female.Among them,11 cases manifested as aquaporin-4 (AQP4)-negative neuromyelitis optica spectrum disorder (NMOSD),four cases optic neuritis,two cases transverse myelitis,one case acute disseminated encephalomyelitis (ADEM),two cases cortical encephalitis and two cases vestibular neuronitis.Magnetic resonance imaging (MRI) results showed that multiple anatomical areas were involved.Among the nine patients with optic nerve involvement,five patients had longitudinally extensive optic nerve lesions,which were longitudinally enhanced.In eight patients,MRI lesions in the spinal cord showed mostly long or short segments involvement,involving 2-5 spinal cord segments.Five cases involved the cervical spinal cord,six cases involved the thoracic spinal cord,and one case involved the lumbar spinal cord.Brain MRI abnormalities were found in 13 cases and the lesions were mostly patchy and point-shaped.MRI lesions demonstrated T2 hyperintensity and some of them could be strengthened,which may involve the basal ganglia,thalamus,radiographic crown,frontal temporal lobe,brain stem and other parts.Among them,16 patients were sensitive to high-dose intravenous/oral methylprednisolone in the acute phase.Seven patients had recurrence after two months to two years of follow-up.Conclusions MOG antibody associated disease include multiple manifestations.Among them,AQP4-negative NMOSD is the most common form.The clinical manifestations of patients showed diversity.Imaging is characterized by multiple parts involvement such as optic nerve,spinal cord,and brain.Most patients are sensitive to high-dose intravenous/oral methylprednisolone,and have a good prognosis in the acute phase,but some patients may relapse.

Nursing care of acute leukemia granulocyte deficiency patients with scrotal and perianal infection / 中国实用护理杂志

Objective:To investigate the nursing care of acute leukemia granulocyte deficiency patients with scrotal and perianal infection.Methods:Individualized care plans were developed for acute leukemia granulocyte deficiency patients with scrotal and perianal infection. Nursing measures were conducted from wound care, high fever care, pain care, and psychological care.Results:The infected area of scrotum was reduced from 5 cm×5 cm to 3 cm×3 cm. The new granulation tissue was at the same height of skin. The skin around anus was fully-recovery.Conclusions:Evaluating this patient′s condition and observing the state of the illness, then applied corresponding nursing managements at different period of scrotum infection could reduce the occurrence and development of acute leukemia granulocyte deficiency-related infection and assure the successful chemotherapy.

Identification and biological characteristics of an Actinomyces europaeus strain / 中华微生物学和免疫学杂志

Objective To investigate the methods for identifying Actinomyces europaeus and to analyze its biological characteristics in order to provide a basis for the diagnosis of actinomycosis. Methods Pus speci-mens collected from patients were used for bacterial culture and then analyzed with Gram staining. VITEK 2 Compact automatic microbiological analyzer was used for species identification. Drug susceptibility test was per-formed with E-test. Matrix-assisted laser desorption/ionization-time of flight mass spectrometry ( MALDI-TOF MS) was used to identify the isolated strain. The common primers of 16S rRNA were used for amplification fol-lowing DNA extraction, and the product of PCR was sequenced after recovery and purification. Homology analy-sis was conducted using the sequence in GenBank database. Results The drug susceptibility test showed that the strain was sensitive to penicillin, piperazolin/taclobatan, and ceftriaxone, but resistant to ciprofloxacin. MALDI-TOF MS and 16S rRNA gene assay identified the strain as Actinomyces europaeus. Conclusions MALDI-TOFMS and 16S rRNA could be used to identify Actinomyces europaeus and are of great significance for the diagnosis of actinomycosis.