AIM:To analyze the clinical phenotypes and genotypes of children with incontinentia pigmenti(IP)and enhance clinicians' understanding of the condition.METHODS: A family with IP diagnosed in February 2020 at the ophthalmology department of People's Hospital of Ningxia Hui Autonomous Region was enrolled. The proband and family members underwent comprehensive systemic and ocular examinations. Peripheral venous blood was collected for DNA extraction, followed by whole-exome sequencing and MLPA assay to identify pathogenic variants. Corresponding treatments were administered based on the severity of fundus lesions, and ocular clinical features and therapeutic outcomes were monitored during follow-up.RESULTS: The child in this study was a female, aged 8 years, with typical skin changes and scarring alopecia and dental abnormalities at the time of initial consultation. The results of genetic testing suggested that the child carried a heterozygous deletion of exons 4-10 of the IKBKG gene chrX:153440010-153446570del. The child had asymmetric lesions in both eyes, with severe lesions in the left eye, atrophy of the eyeballs, and ocular B-ultrasound suggesting structural disturbances in the eye, and neovascularization was seen in the peripheral retina of the right eye, and the patient was given laser photocoagulation treatment for the right eye, and no progression of retinopathy was detected during follow-up.CONCLUSION:Children with IP have different ocular clinical phenotypes, and retinal vasculopathy is the main change. Early screening and timely and standardized treatment are crucial for children diagnosed with IP.

Epilepsy is a disorder of the brain charac-terized by abnormal neuron excitability.However,the underlying molecular mechanism of neuron excitability modulation remains elusive.With the help of bioinformatic methods,we have identified receptor-type tyrosine-pro-tein phosphatase-like N(PTPRN)as a critical gene dur-ing epileptogenesis.PTPRN recruits NEDD4L ubiquitin E3 ligase to NaV1.2 sodium channels,facilitating NEDD4L-mediated ubiquitination and endocytosis.Knockout of PTPRN endows hippocampal granule cells with augmented depolarization currents and higher intrinsic excitability,which is reflected by increased seizure susceptibility of transgenic mice.On the contrary,reduced neuron excit-ability and decreased seizure susceptibility are observed after PTPRN overexpression.Meanwhile,we find that a 133 aa fragment recaptures modulation effect of PTPRN full-length,and this fragment shows therapeutic potential towards epilepsy caused by NaV1.2 gain of function vari-ants.In brief,our results demonstrate PTPRN playsa criti-calroleinregulatingneuronexcitability,providing a poten-tial therapeutic approach for epilepsy.

Objective:To conduct periodic revalidation of the 15 items and 43 terms autoverification rules of blood analysis after 1 year of application, analyze the application suitability and make the rules improved.Methods:Track the results of 528 010 blood analysis samples of our hospital from August 1, 2019 to January 31, 2020, and analyze the pass rate and interception rate of autoverification; 600 specimens in total were selected randomly for microscope examination, including 300 specimens which touched autoverification rules (1 012 items of autoverification rules) and were intercepted by autoverification and 300 specimens which untouched autoverification rules and were released by autoverification. The abnormal characteristics and unacceptable Delta check of the specimens also need to be concerned at the same time.The false negative rate and false positive rate, true negative rate, true positive rate and pass correct rate of autoverification were verified and compared with the rate of the second phase verification when the autoverification rule was established. The false negative rate, false positive rate, true negative rate and true positive rate of the Delta check rule which 54 716 specimens touched were calculated and compared with the second phase verification rate when the autoverification rule was established.The results of microscopic examination were used as the gold standard for the calculation of the rates, and P<0.05 was considered as a significant difference. The false positive and true positive of 1 012 autoverification rules were analyzed item by item.The false positive and true positive of 108 specimens which touched blast cell autoverification rule were analyzed terms by terms. The mean TAT and median TAT of 528 010 specimens and 193 750 outpatient specimens were calculated respectively, and the report percentages of 528 010 samples that TAT<30, 30-60　and>60 min were calculated respectively. Analyze and evaluate the application suitability of autoverification rules to juge whether they meet the needs of doctors and laboratory. The design process and the rules and application process of autoverification were optimized and improved.Results:The autoverification pass rate was 63.06% (332 971/528 010), the interception rate was 36.94% (195 039/528 010). The false negative rate was 1.00% (1/600), the false positive rate was 12.67% (76/600), the true negative rate was 49% (294/600), the true positive rate was 37.33% (224/600), and the correct rate was 98% (294/300). The pass rate, true negative rate, true positive rate and correct rate of the periodic reverification group were higher than the second phase verification group, the false negative rate and false positive rate were lower than that the second phase verification group. The false negative rate and true positive rate of the Delta check of periodic verification group were lower than that the second phase verification group, the false positive rate and true negative rate were higher than the second phase verification group, there were significant differences in the comparition results. The mean TAT of 528 010 specimens was25 min, and the median TAT was 22 min. The mean TAT of 193 750 outpatient specimens was 23 min, and the median TAT was 20 min. The report percentages of 528 010 samples that TAT<30 min, 30 min-60 min and>60 min were 83.30% (439 819/528 010), 8.00% (42 250/528 010) and 8.70% (45 941/528 010), respectively.Conclusion:The results of periodic revalidation of autoverification after 1 years application show that the 15 items and 43 terms autoverification rules of blood analysis could meet requirements about the accuracy and efficiency of the laboratory, and have a good suitability for application.

Objective To investigate the clinical features of cutaneous adverse reactions to tyrosine kinase inhibitors.Methods Thirty patients with cutaneous adverse reactions to tyrosine kinase inhibitors were enrolled from the First Affiliated Hospital of Guangzhou Medical University between January 2015 and December 2016,and their laboratory test results,histopathological findings and treatment response data were collected and analyzed retrospectively.Results Of the 30 patients,15 presented with acneiform eruptions,10 with eczematoid eruptions,2 with morbilliform rashes,1 with telangiectasia,1 with hand-foot skin reaction,9 with xerosis,7 with nail changes and 4 with hair changes.A patient with grade 4 acneiform eruptions showed a markedly elevated alanine transaminase (ALT) level (315 U/L).Mild ALT abnormalities (48.5-88.1 U/L) were found in 3 patients with grade 3 acneiform eruptions,1 with grade 2 acneiform eruptions,1 with grade 1 acneiform eruptions and 1 with eczematoid eruptions complicated by fever.Two patients with eczematoid eruptions and 1 with morbilliform rashes showed elevated proportions of peripheral blood eosinophils (0.057-0.303).Pathological changes of the acneiform eruptions included hyperkeratosis and dilation of hair follicles and neutrophilic infiltration.Pathological manifestations of eczematoid eruptions included different degrees of spongiosis,thickened spinous layer,irregular elongation of rete ridges and liquefaction degeneration of basal cells in the epidermis,and perivascular infiltration of lymphocytes and eosinophils in the superficial dermis.Patients with grade 1-3 acneiform eruptions received oral minocycline for 6 weeks,skin lesions gradually regressed,but relapse occurred after the withdrawal.After withdrawal of targeted antineoplastic agents and 2-week treatment with systemic glucocorticoids,skin lesions gradually regressed in patients with grade 4 acneiform eruptions,those with eczematoid eruptions complicated by fever,and those with morbilliform rashes.Skin rashes also resolved in patients with mild morbilliform rashes and those with mild eczematoid eruptions after 2 weeks of treatment with antianaphylactic agents and topical glucocorticoids.Oral antibiotics were effective for the treatment of periungual erythematous swelling or granulomas.Conclusion Tyrosine kinase inhibitor-related cutaneous adverse reactions include a constellation of disorders,and hepatic function can be impaired.

OBJECTIVE:To observe clinical efficacy and safety of Shuxuetong injection combined with alprostadil in the treat-ment of acute cerebral infraction(ACI). METHODS:A total of 123 ACI patients selected from our hospital during Mar. 2014-Sept. 2016 selected as research subjects were divided into observation group (62 cases) and control group (61 cases) according to ran-dom number table. Control group was additionally given Alprostadil injection 2 mL+0.9% Sodium chloride injection 100 mL, ivgtt,qd,on the basis of routine treatment. Observation group was additionally given Shuxuetong injection 6 mL+0.9% Sodium chloride injection 250 mL,ivgtt,qd,on the basis of control group. Both groups were treated for 2 weeks. MPV,FIB content, hemorheology indexes,neurologic impairment degree score before and after treatment as well as clinical efficacy,the occurrence of ADR were compared between 2 groups. RESULTS:Before treatment,there was no statistical significance in MPV,FIB content, hemorheology indexes or neurologic impairment score between 2 groups (P>0.05). Compared with before treatment,MPV,FIB content,hemorheology indexes and modified Rankin scale of 2 groups were all decreased significantly;Barthel index and NIHSS scores were increased significantly,and each aspect of observation group was better than that of control group,with statistical sig-nificance(P<0.05). Total response rate of observation group was 95.16%,which was significantly higher than 85.25% of control group,with statistical significance(P<0.05). No severe ADR was found in 2 groups. CONCLUSIONS:Shuxuetong injection com-bined with alprostadil can significantly improve the neurological function of ACI patients,improve hypercoagulable state by reduc-ing MPV and FIB content,and have good therapeutic efficacy and safety.

Objective The research aimed at evaluating whether non-invasive endolymphatic MR imaging could be used in aged patients(≥60 years)suffering from Meniere's disease.Methods Under guidance of nasal endoscopy,a diluted gadopentetate dimeglumine injection was administrated through eustachian tube into mid-ear cavity in four patients (≥60 years old) suffered from Meniere's disease.3D-FLAIR MRI scan was performed one day after the administration.Results The administration succeeded through eustachian tube into mid-ear cavity in those four patients.A rise of fluid level on tympanic membrane while administrating a diluted gadopentetated meglumine injection was observed.Imaging of inner ear endolymphatic spaces were visible in vestibule and cochlea in imaging of patient 1.As to patient 2,in cochlea the scala tympani of the first and second turns were enhanced while scala vestibule weren't;Vestibules couldn't be recognized.In images of patient 3,the scala tympani of the three turns in cochlea were enhanced while scala vestibule weren't;Vestibules couldn't be recognized.For Patient 4,in cochlea the scala tympani of the first turn were enhanced while scala vestibule weren't,and the second turn was partially enhanced;and endolymphatic space of vestibule could be distinguished from perilymphatic space.Conclusions This technique could be adopted in investigation of Meniere's disease in elderly patients.MR imaging of endolymphatic spaces in vestibule and cochlea can be visualized,which may partially provide data for diagnosis of Meniere's disease.

Objective To study the effects of acupuncture at myofascial trigger points on spastic foot drop and inversion after stroke. Methods From May, 2014 to May, 2016, 50 stroke patients were randomly divided into control group (n=25) and observation group (n=25). Both groups accepted routine rehabilitation, while the observation group accepted acupuncture at myofascial trigger points per day in addi-tion. They were assessed with Visual Analogue Scale (VAS) of pain, modified Ashworth Scale (MAS), range of motion (ROM) of ankle, sim-plified Fugl-Meyer Assessment (FMA) for lower limbs and maximum walking speed (MWS) in ten metres before and six weeks after treat-ment. Results The scores of VAS, MAS, and FMA, the ROM of ankle, and MWS improved after treatment (t>6.845, P<0.001), and im-proved more in the observation group than in the control group (t>5.586, P<0.001). Conclusion Acupuncture at myofascial trigger points can release spasm to reduce foot drop and inversion in patients with stroke.

Objective To explore the impacts of astragalosideⅣ( AST-Ⅳ) on the experimentally atherosclerotic formation in ApoE-deficient mice. Methods ApoE-deficient mice were randomly divided into AST-Ⅳ and control groups, both groups were fed with high-fat diet, and were killed after 12 weeks of treatment. The plaque areas were measured; the percentage of CD4 +CD25 + T cells were determined by flow cytometry;the levels of supernatant cytokine such as interferon ( IFN )-γ, interleukin ( IL )-10 and transforming growth factor-β (TGF-β) were measured by enzyme-linked immunosorbent assay (ELISA). Results The plaque area of AST-Ⅳ group was ( 815. 78 ± 165. 43 )μm2 , which was smaller than that in control group of (2152. 13 ± 525. 47)μm2. The percentage of CD4 +CD25 +Treg accounted for (9. 86 ± 1. 78)％ of CD4 + cells, which was higher than that in control group (2. 52 ± 1. 43) ％. Compared to con-trol group, the supernatant levels of IL-10 and TGF-βwere significantly higher, and IFN-γwas significantly lower in AST-Ⅳ group (P<0. 05). Conclusions By influencing the regulatory T cell-mediated immune tolerance, AST-Ⅳ might inhibit atherosclerosis in mice.

Objective: The purpose of this study was to observe the clinical characteristics of two types of geotropic direction-changing positional nystagmus, the transient(nystagmus time <1 min) and the persistent(nystagmus time > 1 min), and to evaluate the efficacy of the barbecue roll maneuver. Methods: A total of 105 cases diagnosed by supine roll test were studied, which including 35 males and 70 females and the average age was (56.9±14.6)years. There were 70 transient geotropic DCPN and 35 persistent geotropic DCPN. The clinical characteristics and the immediate and one-week efficacy of the barbecue roll maneuver were discussed. Results: The nystagmus disappeared at the null-point position and the nystagmus in supine position were opposite to the bowing (90° nose-down) position in persistent geotropic DCPN cases. While to the transient geotropic DCPN cases, there were no NP and no nystagmus in prone position. The ratio of the first onset of the two groups was 28.6% (persistent) and 72.9% (transient) respectively, and the difference was statistically significant (P<0.05). The immediate and one-week efficacy after barbecue roll maneuver were 91.4% and 80.0% in transient geotropic DCPN cases, and 0% and 42.9% in persistent geotropic DCPN cases, which were statistically significant different(P<0.05). Conclusions The light cupula hypothesis can mainly explain the clinical features of persistent geotropic DCPN cases; the barbecue roll maneuver is invalid to persistent geotropic DCPN cases which can be self-healing.

Objective To study the effectiveness of intravenous Lidocaine on subjective tinnitus in the elderly, and analyze its correlation with the effectiveness of subsequently oral Carbamazepine.Methods A prospective case-control study was conducted in 120 elderly patients with subjective tinnitus, who were divided into two groups.The control group (n=60) was treated with oral Carbamazepine 0.1 g Bid for one month, and the treatment group (n=60) was treated with 2％ lidocaine by intravenous injection.Patients in the treatment group were observed on responses in tinnitus during the period with Lidocaine injections.The treatment group was further divided into the improvement subgroup and the no-improvement subgroup, according to responses to intravenous lidocaine.All the patients in the treatment group received oral carbamazepine 0.1 g Bid for one month following the intravenous lidocaine injection phase.Results In the control group, 5 patients showed marked improvement, 20 patients showed partial improvement, 33 patients showed no improvement, and 2 patients showed symptom deterioration, with an effectiveness rate of 41.7％ (25/60).In the treatment group, 6 patients showed marked improvement, 26 patients showed partial improvement, 24 patients showed no improvement, and 4 patients showed symptom deterioration, with an effectiveness rate of 53.3％ (32/60).Of the 32 patients in the improvement subgroup, 6 cases showed marked improvement, 16 cases showed partial improvement, 8 cases showed no improvement, and 2 cases showed symptom deterioration after subsequent oral Carbamazepine treatment, and the effectiveness rate was 68.8％ (22/32).Of the 28 patients in the no-improvement subgroup, 1 case showed marked improvement, 9 cases showed partial improvement, 16 cases showed no improvement, and 2 cases showed symptom deterioration, and the effectiveness rate was 35.7％ (10/28).The effectiveness rate in the improvement subgroup was higher than in the no-improvement subgroup (68.8％ vs.35.7％, x2 =6.55, P＜0.05).The effectiveness of lidocaine followed by carbamazepine was better than that of carbamazepine alone (68.8％ vs.53.3％, x2 =6.13, P＜0.05).Conclusions Oral Carbamazepine treatment following intravenous Lidocaine injection in elderly patients with subjective tinnitus has better therapeutic outcomes than treatment with oral Carbamazepine alone, but is not as effective in patients with negative responses to Lidocaine as in patients with positive responses.