Objective To study the therapeutic effect of Xuefu Zhuyu Capsule combined with sacubitril valsartan on dilated cardiomyopathy.Methods A total of 70 patients with dilated cardiomyopathy who were hospitalized in the Hospital from January to December 2020 were selected as the research objects and random-ly divided into control group and experimental group,with 35 cases in each group.The control group was only treated with sacubitril valsartan,and the experimental group was treated with Xuefu Zhuyu Capsule combined with sacubitril valsartan.According to the patient's blood pressure and renal function,sacubitril valsartan was titrated from a small dose to the maximum dose.Xuefu Zhuyu Capsule was uesd 2.4 g each time,twice a day,and the treatment time was three months.The symptoms of heart failure,glycosylated hemoglobin(HbA1c),low density lipoprotein(LDL),total cholesterol(TC),triglyceride(TG),ALT,AST,N-terminal pro-brain natriuretic peptide(NT-proBNP),left ventricular end-systolic diameter(LVEDd),left ventricular end-dias-tolic diameter(LVEDs),ejection fraction(EF)and the incidence of arrhythmia were observed in the two groups after treatment.Results After treatment,the level of NT-proBNP in the experimental group was sig-nificantly lower than that in the control group(P＜0.05).There was no significant difference in LDL,TC,TG,LVEDd,LVEDs and EF between the two groups(P＞0.05).The incidence of atrial tachycardia and ven-tricular premature beat in the experimental group was higher than that in the control group(P＜0.05).Con-clusion Xuefu Zhuyu Capsule combined with sacubitril valsartan can significantly improve the symptoms of patients with heart failure and reduce the level of NT-proBNP,but it may increase the proportion of patients with atrial tachycardia and ventricular premature beats.

Objective:To observe and analyze the clinical characteristics of children with autosomal dominant hereditary microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability syndrome (MCLMR).Methods:A retrospective clinical study. In September 2023, the first patient and three family members (parents, brother) of MCLMR who were diagnosed through ophthalmic examination and genetic testing at Department of Ophthalmology of Henan Children's Hospital were included in the study. Clinical data were collected, inquired about medical history and family history in detail, and performed best corrected visual acuity (BCVA), optical coherence tomography (OCT), fluorescein angiography (FFA), flash visual evoked potential (F-VEP), full field electroretinogram (ERG), cranial magnetic resonance imaging (MRI), and systemic examination. 3 ml of peripheral venous blood were collected from the proband, her parents and younger brother, and extracted whole genome DNA. Second generation sequencing technology was used for gene sequencing. For suspected pathogenic sites, Sanger sequencing was used for validation, and bioinformatics analysis was performed to determine the pathogenicity of the genetic variant sites. The relevant literature of PubMed of the National Library of Medicine and Wan Fang Med Online by computer were searched. The genetic characteristics and conducted literature review were summarized.Results:The proband (Ⅱ-1) was an 8-year-old and 5-month-old female. Her head was relatively small, the lower jaw was small, the ears protrude, the nose was wide, the eyelid was tilted upwards, philtrum was long. Mild intellectual disability, no history of lymphedema. The BCVA values for the right and left eyes were 0.08 and 0.1, respectively. Bilateral nystagmus. Atrophic lesioned in the macular area and below choroid retina of both eyes. FFA examination showed mottled fluorescent staining in the macular area and the below retina, with no obvious fluorescein leakage in the late stage. OCT examination revealed shallow macular fovea morphology, absence of ellipsoidal bands, unclear layers, thinning of the entire retina, and significant atrophy of the choroid and retina beneath the macula. F-VEP examination, no waveform was detected in both eyes. Full field ERG examination showed severe reduction in amplitude of a wave and b wave in both eyes. Head magnetic resonance imaging showed widening of the subarachnoid space in the left temporal region, with no significant abnormal signals observed in the brain parenchyma. Her father (Ⅰ-1) had mild nystagmus and strabismus. The phenotypes of the eyes of the mother (Ⅰ-2) and brother (Ⅱ-2) were not significantly abnormal. The genetic testing results showed that the proband (Ⅱ-1) had a heterozygous missense mutation c.895A>G (p.Ile299Val) in exon 8 of the KIF11 gene, which was a known mutation. Her parents (Ⅰ-1, Ⅰ-2) and younger brother (Ⅱ-2) were both wild-type. The bioinformatics analysis results indicated that this mutation is a potentially pathogenic variant. A total of 109 cases were retrieved from 20 relevant literatures. Among them, 55 were male, 54 were females. There were 61 cases with family history and 48 cases without family history, respectively. Among the 109 cases, 98 cases (89.9%, 98/109) had microcephaly, 2 cases had premature closure of cranial sutures, and 11 patients underwent cranial MRI, which showed 11 cases of small head with simplified development of the cerebral gyrus. 50 cases (45.9%, 50/109) of lymphedema. 83 cases (76.1%, 83/109) of intellectual developmental disorders. 92 cases (84.4%, 92/109) had ocular abnormalities, 69 cases (63.3%, 69/109) had chorioretinopathy, 20 cases (18.3%, 20/109) had retinal folds, 10 cases (9.2%, 10/109) had nystagmus, and 17 cases (15.6%, 17/109) had retinal detachment. Conclusions:The main clinical manifestations of MCLMR are microcephaly, chorioretinopathy, with or without lymphedema, and intellectual disability. The main manifestations of eye diseases are low vision, nystagmus, and chorioretinopathy. The heterozygous missense mutation c.895A>G (p.Ile299Val) in exon 8 of KIF11 gene is the pathogenic variant of this family.

The clinical manifestations, biochemical parameters and imaging examination, genetic test results, and treatment of 3 cases of X-linked adrenoleukodystrophy(X-ALD) patients were reviewed and analyzed, and the structure of adrenoleukodystrophy protein(ALDP) was analyzed. All 3 patients were male. Patients 1 and 2 were childhood cerebral ALD(CCALD), patients 3 was adrenomyeloneuropathy(AMN), and all of them were misdiagnosed at early stage. Brain magnetic resonance imaging(MRI), and hematologic examinations showed the neurological demyelination of X-ALD, adrenocortical insufficiency, and accumulation of very long chain fatty acids(VLCFAs). Sequencing of ABCD1 gene revealed 3 new pathogenic mutations[c.910delins22(p.A304delins8), c. 887A>C(p.Y296S), and c. 1451_1481del(p.P484fs)], which affected the key structure of ALDP and led to the disease. Patients 1 and 2 received hematopoietic stem cell transplantation, and their condition continued to progress after surgery. Patient 3 was in stable condition. The misdiagnosis rate of X-ALD is high, clinicians should be vigilant. In this study, 3 new mutations were found, which expanded the ABCD1 gene mutation spectrum in patients with X-ALD. It is important to note that early identification and early diagnosis of X-ALD should be made to reduce misdiagnosis and mistreatment.

Objective:To observe and analyze the ocular clinical features and pathogenic genes of Alstr?m syndrome (ALMS).Methods:A retrospective clinical study. From October 2020 to July 2022, 3 patients and 5 normal family members from 2 families affected with ALMS who visited in the Ophthalmology Department of Henan Children's Hospital were enrolled in the study. These 2 families were without blood relationship. The medical history and family history were inquired. Best corrected visual acuity (BCVA), fundus color photography, full-field electroretinogram (ERG), frequency domain optical coherence tomography (OCT) and systemic examination were performed. 3 ml peripheral venous blood of patients and their family members were collected, and the whole genomic DNA was extracted. The second generation sequencing analysis was performed on these members. The suspected pathogenic mutation sites were verified by Sanger, and the pathogenicity of the gene mutation sites were determined by bioinformatics analysis.Results:Three patients from two families all developed nystagmus and photophobia in infancy. In the family 1, the BCVA of both eyes of the proband was no light perception. The fundus examination revealed vascular attenuation and retinal pigment abnormality. OCT showed retinal thinning, loss of photoreceptor layer and atrophy of the retinal pigment epithelium layer. ERG examination showed extinguished. The BCVA of the proband’s younger brother was 0.04 in the right eye and 0.02 in the left eye. The fundus examination revealed vascular attenuation but the pigment distribution was roughly normal. OCT showed blurred photoreceptor layers in both eyes. ERG examination showed extinguished. Two patients developed sensorineural deafness, obesity, acanthosis nigricans, insulin resistance/diabetes, and abnormal liver function. In addition, the proband also had left heart enlargement, hyperlipidemia and abnormal kidney function. The results of genetic testing showed that the proband and his younger brother had compound heterozygous mutations in exon 8 (c.1894C>T/p.Gln632*, M1) and exon 10 (c.9148_9149delCT/p.Leu 3050 Leufs*9, M2) of ALMS1, which were both known mutations. The father of the proband was a carrier of M1 and the mother of the proband was a carrier of M2. The proband of the family 2 had a normal fundus at 23 months old. The amplitude of ERG b wave under the stimulation of the dark adaptation 0.01 and a, b wave under the stimulation of dark adaptation 0.3 were all mild reduced. The amplitude of ERG a, b wave under the stimulation of the light adaptation 0.3 was severity decreased. At 4 years old, the BCVA was 0.01 in the right eye and 0.05 in the left eye. The fundus examination revealed vascular attenuation and bilateral blunted foveal reflex. In addition to severely diminished of a, b wave under the stimulation of dark adaptation 0.3, the rest showed extinguished. There were no systemic abnormalities. The results of genetic testing showed that the proband had compound heterozygous mutations in exon 11 (c.9627delT/p.Pro3210Glnfs*22, M3) and exon 5 (c.1089delT/p.Asp364Ilefs*13, M4) of ALMS1, which were both novel mutations. The father of the proband was a carrier of M3 and the mother of the proband was a carrier of M4. Conclusions:Nystagmus and photophobia are often the first clinical manifestations of ALMS. In the early stage, the fundus can be basically normal. As the disease progresses, the fundus examination reveals vascular attenuation and retinal pigment abnormality, and the reflection of the fovea is unclear. OCT shows the photoreceptor cell layers are blurred or even lost. The final ERG is extinguished. M1, M2, and M3, M4 compound heterozygous mutations may be the pathogeny for family 1 and family 2, respectively.

Objective:To assess the clinical value of helium-free magnetocardiography(MCG) in the diagnosis of coronary artery disease(CAD).Methods:A total of 213 patients with suspected CAD undergoing MCG in Beijing Anzhen Hospital were enrolled in the study. All patients underwent coronary CT angiography/invasive coronary angiography(CCTA/ICA) within 48 hours after MCG scanning. The parameters of MCG, including magnetic field multipolarization, magnetic field unipolarization, T-wave flattened, change in magnetic field distribution at TT segment, abnormal T-peak amplitude ration of maximum to minimum, significant movement of poles, magnetic field angle deviation and abnormal distribution of positive pole were used for the evaluation of the stenosis of coronary arteries.Results:Among 213 patients, MCG scanning was completed in 193 cases(90.6%), while 20 cases were excluded for various reasons. The CCTA/ICA results were taken as gold standard, the total coincidence rate of MCG with the degree of stenosis was 88.60%(95% CI: 83.25%-92.72%), the sensitivity and specificity of MCG in the diagnosis of CAD was 89.63%(95% CI: 83.21%-94.21%) and 88.23%(95% CI:78.12%-94.78%), respectively; the positive and negative predictive value were 93.80%(95% CI:88.72%-96.68%) and 81.08%(95% CI:72.15%-87.64%), respectively. Conclusion:MCG is highly accurate in the diagnosis of CAD, it may be widely used clinically as an non-invasive method free of radiation or contrast agent.

Objective:To observe the ocular clinical features and efficacy of young infants with incontinentia pigmenti (IP).Methods:A retrospective study. Clinical data of 18 young infants with IP aged 0-3 months in the Department of Ophthalmology of Henan Children's Hospital from October 2017 to February 2019 were collected in this study. All patients were underwent fundus examination under topical anesthesia or general anesthesia. Among them, 9 cases were underwent genetic testing. Patients were determined whether to treated with retinal laser photocoagulation (LIO) or intravitreal conbercept (IVC, 0.25 mg/0.025 ml) according to the condition of eyes. The followed-up time ranged from 4months to 43 months. The ocular clinical features and treatment were observed.Results:There were 1 male and 17 females of the 18 patients. The age of first visit were 1.2±1.0 months (2 d-3 months). All cases had typical skin lesions, 4 cases had neurological symptoms, 10 cases had tooth abnormalities, and 4 cases had cicatricial alopecia. Among the 9 cases that were underwent genetic testing, 5 cases were deleted in exons 4-10 of the IKBKG gene and 1 case were a heterozygous mutation c.1124delT in exon 9 of the IKBKG gene. Among the 36 eyes, 21 eyes of 13 cases with incontinentia pigmenti-associated ocular diseases were all retinopathy (58.3%,21/36). Retinopathy of 9 cases were asymmetrical (69.2%,9/13). Among the 21 eyes, 3 eyes were simple retinal pigment abnormalities (14.3%,3/21) and 18 cases had retinal vascular lesion (85.7%, 18/21). Among the 36 eyes, 8 eyes were treated; 4 eyes were underwent LIO; 3 eyes were treated with IVC; 1 eye was treated with LIO combined with IVC. They were all improved significantly after the operation without serious complications. 1 eye with retinal detachment did not undergo surgical treatment due to guardian reasons. Perceptual exotropia and eyeball atrophy was found during the follow-up. Conclusions:The onset of IP-related ocular anomalies is early. The early anomalies were mainly retinal vascular abnormalities. Treatment in early time is effective.

Objective:To observe the ocular clinical features of infantile cytomegalovirus (CMV) infection.Methods:A retrospective clinical study. From March 2019 to July 2021, 876 eyes of 438 children with CMV infection who visited Department of Ophthalmology of Henan Provincial Children's Hospital were included in the study. Among them, there were 254 males and 184 females; the age ranged from 3 days to 11 months; the gestational weeks were 28 to 42 weeks; the birth weight was 1 120 to 8 900 g. There were 384 and 54 full-term and premature infants, respectively. Fundus examination was performed in 385 cases (770 eyes) after medical consultation; 53 cases (106 eyes) of premature infants were routinely screened. CMV retinitis (CMVR) was divided into granular type and fulminant type. Patients with CMV-related diseases with moderate to severe symptoms were given intravenous drip and/or oral ganciclovir; patients with severe fundus vasculitis were combined with intravitreal injection of ganciclovir. The follow-up period was from 4 to 28 months, and the characteristics of eye lesions, systemic comorbid diseases and treatment outcomes were observed.Results:There were 516 eyes of 258 cases with normal fundus (58.9%, 258/438); 291 eyes of 180 cases with CMVR (41.1%, 180/438), of which binocular and monocular were 111 (61.7%, 111/180) and 69 (38.3%, 69/180) cases. Among the 291 eyes of CMVR, 281 eyes (96.6%, 281/291) of granular type; yellow-white point-like opacity and/or retinal hemorrhage; 10 eyes (3.4%, 10/291) of fulminant type; fundus Showed a typical "cheese ketchup-like" and vascular white sheath-like changes. Among the 180 children with CMVR, 72 patients (118 eyes) were given systemic intravenous drip and/or oral ganciclovir; 5 patients (10 eyes) were given intravitreal ganciclovir, all of which were fulminant CMVR. At the last follow-up, fundus lesions regressed significantly in 100 eyes of 61 cases; 18 eyes of 11 cases had old lesions or uneven retinal pigment; 108 cases were not treated.Conclusion:The most common fundus manifestation of CMV infection in infants is granular retinitis, and fulminant retinitis is more severe, and the lesions can be significantly regressed after timely antiviral treatment.

Background Neck-shoulder pain is one of the most common discomfort symptoms among nursing staff, mostly caused by a heavy workload, restricted workstation, and prolonged poor posture. Objective To investigate the prevalence of neck-shoulder pain among nursing staff in tertiary general hospitals in Hunan Province, and to analyze workload-related risk factors. Methods From October to December 2018, a multi-stage stratified randomized cluster sampling method was adopted to select a total of 1 200 nursing staff who met the inclusion andexclusion criteria in six tertiary general hospitals from five geographic subdivisions of Hunan Province were selected. A self-designed questionnaire was used to collect demographic characteristics, and past 1-month prevalence of neck-shoulder pain, a neck disability index (NDI) was used to assess the impact of neck pain on daily life, and functional disability was graded by the index of impaired neck function; a self-designed questionnaire was adopted to evaluate potential workload-related risk factors (working time, postural load, and force load) of neck-shoulder pain after a Delphi expert consultation. A total of 1 161 valid questionnaires were returned, and χ^２test and logistic regression model were used to screen the potential risk factors for neck-shoulder pain. Results The prevalence rate of neck-shoulder pain in the past 1 month was 87.5% (1 016/1 161) and varied by different characteristics of the nursing staff, ranging from 76.9% to 91.2%. The scores of the 10 items of the NDI ranged from 0 to 5, but most of them were 0, 1, and 2; of the 10 items, neck pain had the greatest impact on sleep (1.30±1.21) and the least impact on self-care behaviors (0.35±0.65). The index of impaired neck function showed that the majority (65.4%) of nurses had mild cervical spine dysfunction and 30.1% had moderate cervical spine dysfunction. The univariate analysis results revealed that 24 out of the 31 workload-related risk factors had significant differences, and further multiple analysis results showed that three variables entered the logistic regression model. Under the same conditions, nurses with ≥5 h of cumulative head-down tasks per shift had 3.03 times higher neck-shoulder pain risks compared with those with ＜1 h. Compared with “occasionally or never”, nurses who “sometimes” and “often” tilted their necks back and maintained this posture for a long time showed 2.36 and 2.94 times higher risks for neck-shoulder pain respectively. The nurses who reported “sometimes” and “often” having difficulty using their force at work due to unnatural posture had 2.78 times and 7.08 times higher neck-shoulder pain risks than those who “occasionally or never” respectively. Conclusion The reported rate of neck-shoulder pain among nurses in tertiary general hospitals in Hunan Province is high, but most of them are mild dysfunction. Working hours and posture load may affect the risk of neck-shoulder pain.

The etiology of 46, XY disorders of sex development is complex and the clinical manifestations are various. Patients with a female phenotype often present with primary amenorrhea during adolescence, which is difficult to find. We analyze the clinical features of 3 cases of female phenotype diagnosed by gene sequencing. The pathogenesis, clinical manifestations, diagnosis, and treatment were reviewed.

OBJECTIVE: To explore the mediating role of psychological capital in the sense of occupational mission and work engagement in preschool teachers.METHODS: A method of stratified cluster sampling was used to select 464 preschool teachers from 16 kindergartens in a city of Hubei Province. Occupational Mission Scale, Psychological Capital Questionnaire and Job Involvement Questionnaire were used to investigate their sense of occupational mission, psychological capital and job engagement. RESULTS: The total score of occupational mission was(48.6±6.9); the total score of psychological capital was(87.1±11.8); and the total score of work engagement was(79.8±11.4). Occupational mission was positively correlated with job engagement [correlation coefficient(r) was 0.607, P<0.01].The self-efficacy, hope, tenacity and optimism were positively correlated with job engagement(r were 0.526, 0.544, 0.573, 0.415, respectively, P<0.01). The mediating effect of psychological capital on occupational mission and work engagement was 0.15, accounting for 26.8% of the total effect. CONCLUSION: The sense of occupational mission can directly or indirectly promote job engagement. The psychological capital plays a mediating role between occupational mission and job engagement.