A case of Sifrim-Hitz-Weiss syndrome(Sifrim-Hitz-Weiss syndrome,SIHIWES)is presented.The patient was a 35-year-old male with cryptorchidism,growth retardation,skeletal malformations,muscular atrophy,a wide forehead,special facial features like square face,small low-set and cup-shaped ears since birth.Whole-exon sequencing identified a heterozygous mutation(NM_001273:c.3047A>G(chr12-6701125)(p.K1016R))in CHD4 gene.The clinical significance of this mutation is currently unknown,and has not been previously reported.In light of the patient's symptoms,the case was diagnosed as Sifrim-Hitz-Weiss syndrome.This case represents the first instance of Sifrim-Hitz-Weiss syndrome in an adult patient in China.

Objective:To systematically retrieve, evaluate, extract, and integrate the best evidence on sleep disordered breathing (SDB) assessment and intervention in stroke patients to inform clinical practice.Methods:Based on the "6S" evidence model, the literature on SDB assessment and intervention in stroke patients was searched top-down on clinical decision-making websites, guideline websites, professional association websites, and databases. The search period was from the establishment of the database to September 1, 2024. The evidence-based team was formed to select the corresponding tool for quality assessment based on the type of literature. The evidence was also summarized using the Joanna Briggs Institute Center for Evidence-Based Health Care quality level of evidence and grade of recommendation.Results:A total of twenty papers were included, including six expert consensus, six guidelines, four clinical decision-making, two evidence summaries, and two systematic reviews. Eighteen pieces of evidence were summarized around four aspects of assessment, treatment, adherence, and health education.Conclusions:The assessment and intervention of SDB in stroke patients is multifaceted. It is recommended that healthcare professionals dynamically observe the actual condition of patients when applying the evidence to scientifically assess and manage SDB in stroke patients.

A case of Sifrim-Hitz-Weiss syndrome(Sifrim-Hitz-Weiss syndrome,SIHIWES)is presented.The patient was a 35-year-old male with cryptorchidism,growth retardation,skeletal malformations,muscular atrophy,a wide forehead,special facial features like square face,small low-set and cup-shaped ears since birth.Whole-exon sequencing identified a heterozygous mutation(NM_001273:c.3047A>G(chr12-6701125)(p.K1016R))in CHD4 gene.The clinical significance of this mutation is currently unknown,and has not been previously reported.In light of the patient's symptoms,the case was diagnosed as Sifrim-Hitz-Weiss syndrome.This case represents the first instance of Sifrim-Hitz-Weiss syndrome in an adult patient in China.

Objective:To systematically retrieve, evaluate, extract, and integrate the best evidence on sleep disordered breathing (SDB) assessment and intervention in stroke patients to inform clinical practice.Methods:Based on the "6S" evidence model, the literature on SDB assessment and intervention in stroke patients was searched top-down on clinical decision-making websites, guideline websites, professional association websites, and databases. The search period was from the establishment of the database to September 1, 2024. The evidence-based team was formed to select the corresponding tool for quality assessment based on the type of literature. The evidence was also summarized using the Joanna Briggs Institute Center for Evidence-Based Health Care quality level of evidence and grade of recommendation.Results:A total of twenty papers were included, including six expert consensus, six guidelines, four clinical decision-making, two evidence summaries, and two systematic reviews. Eighteen pieces of evidence were summarized around four aspects of assessment, treatment, adherence, and health education.Conclusions:The assessment and intervention of SDB in stroke patients is multifaceted. It is recommended that healthcare professionals dynamically observe the actual condition of patients when applying the evidence to scientifically assess and manage SDB in stroke patients.

Objective:To report a case of Kufor-Rakeb syndrome caused by novel ATP13A2 mutation, collect the cases related to ATP13A2 gene mutation published in recent years, summarize the clinical manifestations of the disease, and broaden the clinical diagnostic thinking. Methods:The clinical manifestations of a newly diagnosed patient with Kufor-Rakeb syndrome caused by ATP13A2 gene mutation admitted to Zhongda Hospital, Southeast University on November 26, 2021, were summarized. The related cases of ATP13A2 mutation published from January 2000 to December 2021 were searched through the PubMed and CNKI databases using the keywords "ATP13A2" and "Parkinson′s disease". The onset age, clinical symptoms, family history, genetic testing, and levodopa responsiveness results of the patients were collected. Results:The patient is a 52-year-old female with the main clinical symptoms of static tremor and bradykinesia. Physical examination showed a gear like increase in muscle tension in the right upper limb, involuntary shaking of the right hand and slow movement. She had good responsiveness to levodopa, and the magnetic resonance imaging and susceptibility weighted imaging of the head showed a lack of clear observation of bilateral black matter swallowtail sign. Whole exome sequencing showed that mutations c.3010A>G (p.S1004G) and c.1195+5G>A (splice) were found in the ATP13A2 gene, both of which were not reported. The c.3010A>G (p.S1004G) mutation originated from the mother, and the c.1195+5G>A (splice) mutation originated from the father. In the retrospective literature review, a total of 10 cases were collected, with onset ages ranging from 18 months to 24 years. Among them, 4/10 patients′ parents married close relatives, and the clinical manifestations were mainly motor symptoms of Parkinson′s disease. In addition, 5/10 patients had cognitive dysfunction, and 3/10 patients had mental symptoms. And demonstrations of most patients′ magnetic resonance imaging were normal in the early stage of the disease, and as the disease progressed, some patients′ imaging results showed specific changes, such as whole brain atrophy and changes in the corpus callosum. Meanwhile, 8/10 patients showed good responsiveness to levodopa. Conclusions:Kufor-Rakeb syndrome is a special type of adolescent levodopa responsive Parkinson′s disease caused by ATP13A2 mutation, which is an autosomal recessive disorder. In addition to motor symptoms such as static tremor and bradykinesia, its clinical manifestations may also be accompanied by non motor symptoms such as cognitive and psychiatric disorders. The disease responds well to treatment with levodopa.

Objective:To investigate the changes of T lymphocyte subsets in peripheral blood of patients with diffuse large B-cell lymphoma (DLBCL) and its clinical significance.Methods:The clinical data of 99 DLBCL patients admitted to the First Affiliated Hospital of Xiamen University from January 2022 to January 2023 were retrospectively analyzed. T lymphocyte subsets in peripheral blood before and after treatment were detected by using flow cytometry. According to the disease status at the time of blood collection and detection, the patients were divided into the newly-diagnosed DLBCL group (28 cases), and the newly-treated remission DLBCL group (71 cases); and 40 healthy volunteers undergoing the physical examination during the same period were selected as the healthy control group. The proportion and absolute count differences of T lymphocytes and the related subsets in 3 groups were compared. Besides, the correlation among T lymphocyte subsets, the correlation of each subset with international prognostic index (IPI) score and treatment response in newly-diagnosed DLBCL patients were further analyzed.Results:The proportion of CD3 + T cells in newly-diagnosed DLBCL group was decreased compared with that in the healthy control group [(58±14)% vs. (67±7)%, P < 0.05]. The absolute count of CD3 + T cells in both newly-diagnosed group and the newly-treated remission group was reduced compared with that in the healthy control group [(875±483) /μl and (808±553) /μl vs. (1 374±279) /μl, P < 0.001]. The absolute count of CD4 + and CD8 + T cells in newly-diagnosed group was decreased compared with that in the healthy control group [(478±313) /μl vs. (695±154) /μl, (316±181) /μl vs. (525±193) /μl, all P < 0.001]. Both the proportion and absolute count of CD4 + T cells in the newly-treated remission DLBCL group were decreased compared with those in the newly-diagnosed DLBCL group and the healthy control group [(40±14)% vs. (53±14)% and (51±9)%, (313±247) /μl vs. (478±313) /μl and (695±154) /μl, all P < 0.05]. The porportion of CD8 + T cells was increased compared with that in the other two groups [(51±15)% vs. (37±12)% and (38±9)%, all P < 0.001]. Compared with the healthy control group, the effect/memory subsets proportion of regulatory T cell (Treg) and conventional T cell (Tcon) were increased in both newly-diagnosed DLBCL group and the newly-treated remission DLBCL group [(79±16)% and (84±12)% vs. (71±11)%,(72±16)% and (76±14)% vs. (62±13)%, all P < 0.05], and the proportion of CD127 + memory Tcon and CD8 + T cell subsets was reduced [(73±14)% and (66±20)% vs. (85±8)%,(39±15)% and (25±21)% vs. (62±16)%, all P < 0.05]. In newly-diagnosed DLBCL group, the absolute counts of CD3 + T and CD4 + T cells were negatively correlated with the proportion of effector Treg ( r = -0.379, P = 0.049; r = -0.384, P = 0.040, respectively). IPI score of DLBCL patients was correlated with the proportion of CD8 + T cells ( Eta2 = 0.15, P = 0.038). The proportion of CD127 + memory Tcon in patients with non-complete remission was increased compared with that in patients with complete remission after treatment ( P = 0.020). Conclusions:The proportion and absolute count of T lymphocyte cells in peripheral blood of newly-diagnosed DLBCL patients is decreased, and the differentiation state of T lymphocyte cells shows change trend, which is related to the clinical characteristics and treatment response of DLBCL patients. Even if DLBCL patients have achieved treatment remission, T lymphocyte cells are not completely return to the normal.

Objective:To explore expressions of interleukin 6 (IL-6), interleukin 8 (IL-8) and interleukin 10 (IL-10) in the peripheral blood of patients with diffuse large B-cell lymphoma (DLBCL) and their clinical significances.Methods:The clinical data of 78 newly diagnosed patients with DLBCL from March 2018 to March 2021 in the First Affiliated Hospital of Xiamen University were retrospectively analyzed, and 58 healthy people receiving physical examination during the same period were taken as the healthy controls. The expressions levels of IL-6, IL-8 and IL-10 in peripheral blood were tested by using cytometric bead array (CBA), and the association of the levels of IL-6, IL-8 and IL-10 with clinical characteristics, disease staging and prognosis was analyzed.Results:The expression levels of IL-6, IL-8 and IL-10 in DLBCL group were higher than those in the healthy control group [(171.81±70.91) pg/ml vs. (2.71±0.28) pg/ml, (47.95±13.04) pg/ml vs. (3.69±0.47) pg/ml, (38.02±10.35) pg/ml vs. (1.77±0.23) pg/ml], and differences were statistically significant ( t values were 2.38, 3.39, 3.50, all P<0.05). In DLBCL group, the expression levels of IL-6, IL-8 and IL-10 in patient with bone marrow invasion, international prognostic index (IPI) 3-5 scores and clinical staging Ⅲ-Ⅳ were higher than those in patients with bone marrow non-invasion, IPI 1-2 scores and clinical stagingⅠ-Ⅱ(all P<0.05). There was a relationship between the expression levels of IL-6 and IL-8, IL-6 and IL-10, IL-8 and IL-10 in peripheral blood of DLBCL patients ( r2 value was 0.93, 0.89, 0.89, respectively; all P < 0.05). Among patients with high expressions of IL-6, IL-8 and IL-10, the proportion of patients not receiving remission after 6 cycles of treatment in clinical staging Ⅲ-Ⅳ was higher than that of patients with high expressions of IL-6, IL-8 and IL-10 alone or any two of them, and differences were statistically significant (all P < 0.05). Conclusions:There is a high correlation of IL-6, IL-8 and IL-10 expression levels; the increasing expression levels of them may predict the later disease stage and poor prognosis for DLBCL patients.

Objective: To evaluate the value of cerebrospinal fluid markers expecially total-tau protein (T-tau), phosphorylated-tau protein (P-tau) in diagnosis and differentiation of sporadic Creutzfeldt-Jakob disease (sCJD). Methods: sCJD (according to 2009 Brain criteria, 2018 Neurology amended criteria), Alzheimer's disease (AD; the National Institute on Aging at National Institutes of Health and the Alzheimer's Association revised guidelines 2011 criteria) and other patients without cognitive impairment, matched for sex and age, in the Department of Neurology, Peking Union Medical College Hospital from 2018 to 2019 were enrolled. Twelve sCJD patients, 49 AD patients and 14 normal controls were enrolled. Cerebrospinal fluid (CSF) specimens were collected through gravity dropping directly, and further stored in -80 ℃ and disposed according to widely used standards. The levels of T-tau and P-tau were measured by ELISA. The data on electroencephalogram and neuroimaging findings of sCJD patients were recorded. Moreover, specimens of sCJD patients were sent to the Chinese Center for Disease Control and Prevention to test 14-3-3 protein and PRNP genotype. Results: Using Mann-Whitney U test, T-tau concentrations were found higher in patients with sCJD (1 211(448, 2 227) pg/ml) than in AD patients (549(314, 1 078) pg/ml; U=178, P=0.034 9), and both groups had higher T-tau than the control group (127(79, 192) pg/ml; U=20, 73, P<0.01). The level of P-tau was significantly increased in AD patients (72(58,109) pg/ml) compared to the control group (27(15, 42) pg/ml; U=82, P<0.01), but not in sCJD patients (32(24, 47) pg/ml). The T-tau/P-tau ratio was higher in sCJD patients (29.77(20.01, 54.53)) than in AD patients (7.45(4.79, 10.43); U=87, P<0.01). Twelve sCJD patients had cotical hyperintensity on diffusion weighted imaging and five had periodic three-phase waves on electroencephalogram. Nine sCJD patients, whose CSF samples were tested in the Chinese Center for Disease Control and Prevention, carried an M/M genotype at codon 129 and E/E at codon 219. Conclusion The CSF tau level and T-tau/P-tau ratio are significantly increased in sCJD, which may promote the diagnosis and differentiation of sCJD in routine clinical setting.

The main pathogenesis of liver failure is immune damage and uncontrolled inflammatory response. Glucocorticoids have strong immunosuppressive and anti-inflammatory effects, and are considered to be useful for the treatment of liver failure. However, the results of many clinical studies have shown that the application of glucocorticoids in patients with liver failure cannot effectively improve the prognosis, but instead increases the chance of infection and endangers life. Provided that, it seems reasonable to assume that glucocorticoid resistance exists in patients with liver failure. This article analyzes the mechanism by which P-glycoprotein reverses glucocorticoid transport, intracellular glucocorticoid signaling pathway dysfunction and related gene mutations when the inflammatory response is uncontrolled. In addition, we also evaluated the sensitivity of glucocorticoids in patients with liver failure, so as to provide theoretical basis for efficacy and medication timing.