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Association of HLA-B*1502 and*1511 Allele with Antiepileptic Drug-induced Stevens-Johnson Syndrome in Central China 被引量:10
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作者 孙丹 余春华 +6 位作者 刘智胜 何雪莲 胡家胜 吴革菲 毛冰 吴舒华 项慧慧 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2014年第1期146-150,共5页
Previous studies have demonstrated a strong association between carbamazepine(CBZ)-induced Stevens-Johnson syndrome(SJS) and HLA-B 1502 in Han Chinese. Here, we extended the study of HLA-B 1502 susceptibility to t... Previous studies have demonstrated a strong association between carbamazepine(CBZ)-induced Stevens-Johnson syndrome(SJS) and HLA-B 1502 in Han Chinese. Here, we extended the study of HLA-B 1502 susceptibility to two different antiepileptic drugs, oxcarbazepine(OXC) and phenobabital(PB). In addition, we genotyped HLA-B 1511 in a case of CBZ-induced SJS with genotype negative for HLA-B 1502. The presence of HLA-B 1502 was determined using polymerase chain reaction with sequence-specific primers(PCR-SSP). Moreover, we genotyped HLA-B 1502 in 17 cases of antiepileptic drugs(AEDs)-induced cutaneous adverse drug reactions(cADRs), in comparison with AEDs-tolerant(n=32) and normal controls(n=38) in the central region of China. The data showed that HLA-B 1502 was positive in 5 of 6 cases of AEDs-induced SJS(4 CBZ, 1 OXC and 1 PB), which was significantly more frequent than AEDs-tolerant(2/32, 18 CBZ, 6 PB and 8 OXC) and normal controls(3/38). Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B 1502 with AEDs-induced SJS was 6.25(95% CI: 1.06–36.74) and 4.86(95% CI: 1.01–23.47). The sensitivity and specificity of HLA-B 1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B 1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B 1502 was not found in 11 children with maculopapular exanthema(MPE)(n=9) and hypersensitivity syndrome(HSS)(n=2). However, we also found one case of CBZ-induced SJS who was negative for HLA-B 1502 but carried HLA-B 1511. It was suggested that the association between the CBZ-induced SJS and HLA-B 1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B 1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B 1502. 展开更多
关键词 stevens-johnson syndrome antiepileptic drugs children HLA-B 1511 HLA-B 1502
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Stevens-Johnson syndrome and concurrent hand foot syndrome during treatment with capecitabine:A case report 被引量:3
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作者 Ha Rim Ahn Sang-Kyung Lee +2 位作者 Hyun Jo Youn Seok-Kweon Yun Il-Jae Lee 《World Journal of Clinical Cases》 SCIE 2021年第17期4279-4284,共6页
BACKGROUND Capecitabine is used in combination with lapatinib as palliative treatment for human epidermal growth factor receptor 2-positive metastatic breast cancer.The most frequently reported adverse events attribut... BACKGROUND Capecitabine is used in combination with lapatinib as palliative treatment for human epidermal growth factor receptor 2-positive metastatic breast cancer.The most frequently reported adverse events attributed to capecitabine include diarrhea,hyperbilirubinemia,and hand-foot syndrome(HFS).A number of cutaneous adverse events have been attributed to capecitabine,including Stevens-Johnson syndrome(SJS)as a rare and potentially life-threatening mucocutaneous condition.We report the first case involving concurrent SJS and HFS after capecitabine and lapatinib treatment.CASE SUMMARY A 70-year-old woman with a history of breast cancer treatment visited our hospital for evaluation of painful skin lesions.Six weeks earlier,she had been prescribed capecitabine plus lapatinib as treatment for metastatic breast cancer.She subsequently developed worsening erythema and bullae on her palms and soles,as well as reddish macules on her back and chest wall.Histopathological evaluation of the chest wall lesions revealed extensive eosinophilic epidermal necrosis and separation of the epidermis from the dermis.The capecitabine plus lapatinib treatment was discontinued immediately and treatment was started using systemic steroids.This treatment resolved most lesions,although the lesions on her palms and soles required Vaseline gauze dressings,which resulted in reepithelialization.Therefore,we determined that the patient had concurrent SJS and HFS.Although the dermatological problems resolved,the patient ultimately died because of multiple organ failure.CONCLUSION Oral capecitabine treatment carries a risk of both HFS and also life-threatening adverse cutaneous drug reactions,such as SJS. 展开更多
关键词 stevens-johnson syndrome Hand-Foot syndrome Palliative treatment CAPECITABINE Breast neoplasms Case report
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Pembrolizumab-induced Stevens-Johnson syndrome in advanced squamous cell carcinoma of the lung:A case report and review of literature 被引量:1
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作者 Jing-Yi Wu Kai Kang +1 位作者 Jing Yi Bin Yang 《World Journal of Clinical Cases》 SCIE 2022年第18期6110-6118,共9页
BACKGROUND For advanced lung squamous cell carcinoma,immune checkpoint inhibitors(ICIs)have been regarded as one of the optimal therapies.While immune-related adverse events(ir AEs)are common in ICI treatment,cutaneou... BACKGROUND For advanced lung squamous cell carcinoma,immune checkpoint inhibitors(ICIs)have been regarded as one of the optimal therapies.While immune-related adverse events(ir AEs)are common in ICI treatment,cutaneous toxicities are among the most common ir AEs.Most immune-related skin toxicity grades are low,and the prognosis is good.However,Stevens-Johnson syndrome(SJS)is a rare but extremely severe cutaneous adverse drug reaction with high mortality.CASE SUMMARY We report a rare case of SJS induced by pembrolizumab.The case involved a 68-year-old female who was diagnosed with advanced squamous cell carcinoma of the lung.SJS appeared after one cycle of immunotherapy combined with chemotherapy.After treatment with prednisone hormone symptoms,antiinfection,gamma globulin,and antipruritic agents,the skin toxicity of the patients gradually decreased and eventually disappeared.Although the antitumor treatment was stopped due to serious adverse reactions,the tumor of the patient remained stable for nearly half a year after one cycle of immune therapy combined with chemotherapy,which also corroborates the delayed effect of immunotherapy.CONCLUSION We believe our report can provide some references for the treatment of SJS and the treatment of immune-related adverse reactions. 展开更多
关键词 Pembrolizumab stevens-johnson syndrome Advanced squamous cell carcinoma LUNG Immune-related adverse events Case report
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Osteo-odonto keratoprosthesis in Stevens-Johnson syndrome:a case report
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作者 Reddy SC Tajunisah I Tan D T 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2011年第2期212-215,共4页
·AIM:To report a successful osteo-odonto keratoprosthesis(OOKP) procedure in a case of end stage of corneal blindness due to Stevens-Johnson syndrome (SJS).·METHODS:An interventional case report.·RESULT... ·AIM:To report a successful osteo-odonto keratoprosthesis(OOKP) procedure in a case of end stage of corneal blindness due to Stevens-Johnson syndrome (SJS).·METHODS:An interventional case report.·RESULTS:We describe a 35-year-old Indian woman,a known case of SJS with bilateral dry eyes and corneal blindness (failed corneal graft with vascularised total corneal opacity in the right eye and non-healing corneal ulcer in the left eye).Vision was hand movement only in both eyes.The corneal ulcer healed with medical treatment resulting in vascularised total corneal opacity with no improvement in vision.OOKP was performed in the right eye and the vision was improved from hand movement to 6/6.The same vision was maintained in the right eye at the last follow-up 5 years after surgery.·CONCLUSION:OOKP provides good visual rehabilitation with long-term anatomically stable prosthesis in patients with end-stage of ocular surface disorders and corneal blindness secondary to SJS.· 展开更多
关键词 osteo-odonto keratoprosthesis stevens-johnson syndrome corneal blindness
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Significant impact of cryopreserved amniotic membrane on acute ocular Stevens-Johnson syndrome and toxic epidermal necrolysis
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作者 Army M.S.Cheng Scheffer C.G.Tseng 《Eye Science》 CAS 2016年第3期121-123,共3页
The ocular surface is covered by an epithelium encompassing an area including the cornea,the limbus and the conjunctiva bordered by the upper and lower lids.The healthy state of the ocular surface epithelium depends o... The ocular surface is covered by an epithelium encompassing an area including the cornea,the limbus and the conjunctiva bordered by the upper and lower lids.The healthy state of the ocular surface epithelium depends on a stable and protective preocular tear film when the eye is open.A stable preocular tear film is governed by sound ocular surface defense that involves effective 展开更多
关键词 cryopreserved amniotic membrane stevens-johnson syndrome toxic epidermal necrolysis
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Enzalutamide Associated with Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) Overlap: A Case Report
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作者 Sharjeel Israr Christopher R. Mellon +2 位作者 Haley J. Springs Asia N. Quan Marc R. Matthews 《Surgical Science》 2021年第12期421-426,共6页
<span style="font-family:Verdana;">Enzalutamide is a hormonal therapy that blocks the action of androgens, such as testosterone in the treatment of metastatic castration-resistant prostate cancer. <... <span style="font-family:Verdana;">Enzalutamide is a hormonal therapy that blocks the action of androgens, such as testosterone in the treatment of metastatic castration-resistant prostate cancer. </span><span style="font-family:Verdana;">Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) overlap and are part of an adverse drug reaction continuum of disease, in which there is a 10% - 30% involvement of the skin surface with mucositis, blisters, skin slough, and a macular rash. A 66-year-old male was treated with enzalutamide for metastatic prostate cancer and developed SJS/TEN overlap with 25% total body surface area skin involvement. The patient received a </span><span style="font-family:Verdana;">seven-day course of cyclosporine to which he responded by re-epithelialization </span><span style="font-family:Verdana;">but succumbed to multi-organ failure. While SJS/TEN has been reported with apalutamide, to our knowledge, this is the first case of SJS/TEN overlap with enzalutamide.</span> 展开更多
关键词 Prostate Cancer Enzalutamide stevens-johnson syndrome Toxic Epidermal Necrolysis SJS/TEN
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Spectrum of gastrointestinal involvement in Stevens-Johnson syndrome 被引量:1
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作者 Ashish Kumar Jha Arya Suchismita +1 位作者 Rajeev Kumar Jha Vikas Kumar Raj 《World Journal of Gastrointestinal Endoscopy》 CAS 2019年第2期115-123,共9页
Stevens-Johnson syndrome(SJS) or toxic epidermal necrolysis(TEN) is a severe adverse drug reaction associated with involvement of skin and mucosal membranes, and carries significant risk of mortality and morbidity. Mu... Stevens-Johnson syndrome(SJS) or toxic epidermal necrolysis(TEN) is a severe adverse drug reaction associated with involvement of skin and mucosal membranes, and carries significant risk of mortality and morbidity. Mucus membrane lesions usually involve the oral cavity, lips, bulbar conjunctiva and the anogenitalia. The oral/anal mucosa and liver are commonly involved in SJS or TEN. However, intestinal involvement is distinctly rare. We herein review the current literature regarding the gastrointestinal involvement in SJS or TEN. This review focuses mainly on the small bowel and colonic involvement in patients with SJS or TEN. 展开更多
关键词 stevens-johnson syndrome TOXIC EPIDERMAL necrolysis Lyell’s syndrome Gastrointestinal involvement COLON ILEUM
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Acute middle ear Aspergillus niger infection in a patient with Stevens-Johnson syndrome: a case report
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作者 Keyvan Kiakojuri Mojtaba Taghizadeh Armaki +3 位作者 Ramazan Rajabnia Abazar Pournajaf Mohsen Karami Saeid Mahdavi Omran 《Journal of Acute Disease》 2019年第4期170-172,共3页
Rationale: Stevens-Johnson syndrome is a disorder mostly attributed to drug use, which can cause different skin problems. Patient concerns: A 31-year-old woman presented with severe pain and pounding in the left ear. ... Rationale: Stevens-Johnson syndrome is a disorder mostly attributed to drug use, which can cause different skin problems. Patient concerns: A 31-year-old woman presented with severe pain and pounding in the left ear. Diagnosis: Fluconazole-induced Stevens-Johnson syndrome with fungal infection in ear. Intervention: Surgical and systemic antibiotic therapy. Outcomes: The patient recovered and resumed her normal life. Lessons: The prescription of fluconazole for patients with underlying conditions should be done with caution. 展开更多
关键词 stevens-johnson syndrome FLUCONAZOLE OTOMYCOSIS
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Vanishing bile duct and Stevens-Johnson syndrome associated with ciprofloxacin treated with tacrolimus 被引量:3
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作者 Gokhan Okan Serpil Yaylaci +2 位作者 Onder Peker Sabahattin Kaymakoglu Murat Saruc 《World Journal of Gastroenterology》 SCIE CAS CSCD 2008年第29期4697-4700,共4页
Stevens-Johnson syndrome (SJS) is a serious and potentially life-threatening disease. Vanishing bile duct syndrome (VBDS) is a rare cause of progressive cholestasis. Both syndromes are mostly related with drugs. We re... Stevens-Johnson syndrome (SJS) is a serious and potentially life-threatening disease. Vanishing bile duct syndrome (VBDS) is a rare cause of progressive cholestasis. Both syndromes are mostly related with drugs. We report a case of a patient with ciprofloxacin-induced SJS and acute onset of VBDS, and reviewed the related literature. It is the fi rst case of ciprofloxacin-induced VBDS successfully treated with tacrolimus. This case reminds physicians of the importance of drug reactions, their severity, techniques for diagnosis and methods of management. 展开更多
关键词 史蒂文斯-约翰逊综合症 卷须霉素 血流谱 临床表现
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Stevens-Johnson syndrome complicating adalimumab therapy in Crohn's disease 被引量:2
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作者 Muna Salama Ian Craig Lawrance 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第35期4449-4452,共4页
The anti-tumor necrosis factor(TNF)αmedications demonstrate efficacy in the induction of remission and its maintenance in numerous chronic inflammatory conditions.With the increasing number of patients receiving anti... The anti-tumor necrosis factor(TNF)αmedications demonstrate efficacy in the induction of remission and its maintenance in numerous chronic inflammatory conditions.With the increasing number of patients receiving anti-TNFαagents,however,less common adverse reactions will occur.Cutaneous eruptions complicating treatment with an anti-TNFαagent are not uncommon,occurring in around 20%of patients. Adalimumab,a fully humanized antibody against TNFα, may be expected to cause minimal immune-mediated skin reactions compared to the chimeric monoclonal antibody,infliximab.We,however,report a case of Stevens-Johnson syndrome that required hospitalization and cessation of adalimumab in a patient with Crohn’ s disease(CD).In this case report,a 29-year-old male with colonic and perianal CD with associated erythema nodosum and large joint arthropathy developed severe mucositis,peripheral rash and desquamation,fevers and respiratory symptoms concomitant with a second dose of 40 mg adalimumab after a 2 mo break from adalimumab therapy.Skin biopsies of the abdominal wall confirmed erythema multiforme and the patient was on no other drugs and infective etiologies were excluded.The patient responded rapidly to IV hydrocortisone and was able to be commenced on infliximab without recurrence of the Stevens-Johnson syndrome.Desquamating skin reactions have now been described in three of the TNFαantagonists(infliximab,etanercept and adalimumab).These reactions can be serious and prescribers need to be aware of the potential mucocutaneous side effects of these agents,especially as Stevens-Johnson syndrome is associated with significant morbidity and mortality. 展开更多
关键词 TNF 肿瘤 坏死因子 治疗 临床
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A Case of Multiple Sexually Transmitted Diseases (STDs),with Stevens-Johnson Syndrome and Mediastinal Tumor
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作者 陈玉平 熊琳 +1 位作者 冉玉平 童燕芳 《Chinese Journal of Sexually Transmitted Infections》 2002年第1期46-48,共3页
A 29-year-old man was admitted for erythema, papules and erosions. Erosions and purulent secretions were seen in the circumference of the mouth, eyes, oral mucosa,tongue, and preputium. Conjunctivas were swollen and t... A 29-year-old man was admitted for erythema, papules and erosions. Erosions and purulent secretions were seen in the circumference of the mouth, eyes, oral mucosa,tongue, and preputium. Conjunctivas were swollen and the urethral orifice was red, both were accompanied by purulent secretions. Multiple vesicles were shown in the penis.The patient was diagnosed with:①Stevens-Johnsonsyndrome;②gonococcal ophthalmoblennorrhea;③nongonococcal urethritis, gonococcal urethritis;④genital herpes;⑤mediastinal tumor. 展开更多
关键词 性传播疾病 STD 胸腺瘤 临床研究 病例分析 合并症 史蒂文斯-约翰逊综合症 重症多形性红斑
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Body composition and metabolic syndrome in patients with type 1 diabetes 被引量:1
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作者 Qiong Zeng Xiao-Jing Chen +3 位作者 Yi-Ting He Ze-Ming Ma Yi-Xi Wu Kun Lin 《World Journal of Diabetes》 SCIE 2024年第1期81-91,共11页
BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relatio... BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relationship between body composition,metabolic syndrome and insulin resistance in T1DM to guide clinical treatment and intervention.AIM To assess body composition(BC)in T1DM patients and evaluate the relationship between BC,metabolic syndrome(MS),and insulin resistance in these indi-viduals.METHODS A total of 101 subjects with T1DM,aged 10 years or older,and with a disease duration of over 1 year were included.Bioelectrical impedance analysis using the Tsinghua-Tongfang BC Analyzer BCA-1B was employed to measure various BC parameters.Clinical and laboratory data were collected,and insulin resistance was calculated using the estimated glucose disposal rate(eGDR).RESULTS MS was diagnosed in 16/101 patients(15.84%),overweight in 16/101 patients(15.84%),obesity in 4/101(3.96%),hypertension in 34/101(33.66%%)and dyslip-idemia in 16/101 patients(15.84%).Visceral fat index(VFI)and trunk fat mass were significantly and negatively correlated with eGDR(both P<0.001).Female patients exhibited higher body fat percentage and visceral fat ratio compared to male patients.Binary logistic regression analysis revealed that significant factors for MS included eGDR[P=0.017,odds ratio(OR)=0.109],VFI(P=0.030,OR=3.529),and a family history of diabetes(P=0.004,OR=0.228).Significant factors for hypertension included eGDR(P<0.001,OR=0.488)and skeletal muscle mass(P=0.003,OR=1.111).Significant factors for dyslipidemia included trunk fat mass(P=0.033,OR=1.202)and eGDR(P=0.037,OR=0.708).CONCLUSION Visceral fat was found to be a superior predictor of MS compared to conventional measures such as body mass index and waist-to-hip ratio in Chinese individuals with T1DM.BC analysis,specifically identifying visceral fat(trunk fat),may play an important role in identifying the increased risk of MS in non-obese patients with T1DM. 展开更多
关键词 Body composition Metabolic syndrome Insulin resistance Visceral fat Estimated glucose disposal rate
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Dynamic ultrasonography for optimizing treatment position in superior mesenteric artery syndrome:Two case reports and review of literature
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作者 Nobuaki Hasegawa Akihiko Oka +4 位作者 Muyiwa Awoniyi Yuri Yoshida Hiroshi Tobita Norihisa Ishimura Shunji Ishihara 《World Journal of Gastroenterology》 SCIE CAS 2024年第5期499-508,共10页
BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effe... BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome,individual variations in the optimal patient position have been noted.In this report,we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.CASE SUMMARY Case 1:A 90-year-old man with nausea and vomiting.Following diagnosis of SMA syndrome by computed tomography(CT),ultrasonography(US)revealed the SMA-Ao distance in the supine position(4 mm),which slightly improved in the lateral position(5.7–7.0 mm)without the passage of duodenal contents.However,in the sitting position,the SMA-Ao distance was increased to 15 mm accompanied by improved content passage.Additionally,US indicated enhanced passage upon abdominal massage on the right side.By day 2,the patient could eat comfortably with the optimal position and massage.Case 2:An 87-year-old woman with vomiting.After the diagnosis of SMA syndrome and aspiration pneumonia by CT,dynamic US confirmed the optimal position(SMA-Ao distance was improved to 7 mm in forward-bent position,whereas it remained at 5 mm in the supine position).By day 7 when her pneumonia recovered,she could eat with the optimal position.CONCLUSION The optimal position for SMA syndrome varies among individuals.Dynamic US appears to be a valuable tool in improving patient outcomes. 展开更多
关键词 Superior mesenteric artery syndrome Wilkie’s syndrome Cast syndrome Aorto-mesenteric compass syndrome ULTRASONOGRAPHY Case report
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Hepatocardiorenal syndrome in liver cirrhosis:Recognition of a new entity?
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作者 Henry H L Wu Amina Rakisheva +1 位作者 Arvind Ponnusamy Rajkumar Chinnadurai 《World Journal of Gastroenterology》 SCIE CAS 2024年第2期128-136,共9页
Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole ... Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole origin of a cascade of pathophysiological mechanisms directly affecting the kidneys in this context.In the absence of established heart disease,cirrhotic cardiomyopathy may occur more frequently in those with liver cirrhosis and kidney disease.It is a specific form of cardiac dysfunction characterized by blunted contractile responsiveness to stress stimuli and altered diastolic relaxation with electrophysiological abnormalities.Despite the clinical description of these potential cardiac-related complications of the liver,the role of the heart has traditionally been an overlooked aspect of circulatory dysfunction in HRS.Yet from a physiological sense,temporality(prior onset)of cardiorenal interactions in HRS and positive effects stemming from portosystemic shunting demonstrated an important role of the heart in the development and progression of kidney dysfunction in cirrhotic patients.In this review,we discuss current concepts surrounding how the heart may influence the development and progression of HRS,and the role of systemic inflammation and endothelial dysfunction causing circulatory dysfunction within this setting.The temporality of heart and kidney dysfunction in HRS will be discussed.For a subgroup of patients who receive portosystemic shunting,the dynamics of cardiorenal interactions following treatment is reviewed.Continued research to determine the unknowns in this topic is anticipated,hopefully to further clarify the intricacies surrounding the liver-heart-kidney connection and improve strategies for management. 展开更多
关键词 Hepatorenal syndrome Cardiorenal syndrome CIRRHOSIS Cardiac dysfunction Circulatory dysfunction
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Fraser Syndrome: A Case Report
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作者 Chaimae Sajoura Mohammed Ech-Chebab +2 位作者 Anass Ayyad Sahar Messaoudi Rim Amrani 《Open Journal of Pediatrics》 2024年第3期476-481,共6页
Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-cons... Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis. 展开更多
关键词 Fraser syndrome Cryptophthalmia NEWBORN Polymalformative syndrome
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Advancements in Lynch Syndrome Management: Applying Immunotherapy for Therapeutic Success
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作者 Abraamyan Feruza Bobolis Kristie Gauchan Dron 《Open Journal of Gastroenterology》 CAS 2024年第4期139-144,共6页
Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of... Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of Lynch syndrome showing excellent response to immunotherapy. A 59-year-old male with a history of rectal cancer 30 years ago came to the hospital due to a fever and further found a large necrotic colon mass. Biopsy was positive for colorectal cancer;however, due to the size of the tumor, the patient was deemed not a surgical candidate and offered hospice with palliative chemotherapy. Based on further workup, the patient was diagnosed with Lynch syndrome, with colon cancer determined to be responsive to Immunotherapy. He was started on JEMPERLI (Dosterlimab-gxly), and after three cycles of therapy, imaging and PET scan were repeated, showing decreased activity and extent of the tumor—a tremendous success. 展开更多
关键词 Lynch syndrome Colon Cancer GENETICS IMMUNOTHERAPY Dostarlimab
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Adherence to Pharmacotherapy in Post-Menopausal Women with Hypertension or Metabolic Syndrome: Real World Experience
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作者 Maria Maiello Francesca Amati +4 位作者 Vincenzo Ezio Santobuono Andrea Igoren Guaricci Cinzia Forleo Marco Matteo Ciccone Pasquale Palmiero 《International Journal of Clinical Medicine》 CAS 2024年第3期145-154,共10页
Background: Adherence to medications is dependent upon a variety of factors, including individual characteristics of the patient, interactions with health care providers, and medication complexity. Even though several... Background: Adherence to medications is dependent upon a variety of factors, including individual characteristics of the patient, interactions with health care providers, and medication complexity. Even though several studies were conducted to test intervention strategies, results are uncertain. Aim: The aim of the study is to assess if a tailored combined intervention strategy improves medication adherence in a large population of post-menopausal women affected by hypertension or metabolic syndrome. Methods: We enrolled 6833 patients aged 50 to 69 years, 85.7% with hypertension, and 14.3% with metabolic syndrome. A network between patients, general practitioners, and cardiologists was established. Interventions included education, adequate information to patients, a simplified scheme of treatment, and periodic adherence assessment. These were either delivered as healthcare provider supports or using modern technology. Medication adherence was estimated by the proportion of days covered for all classes of drugs after the index date. Results: Non-adherent hypertensive women were 297 (5%), and those with metabolic syndrome were 73 (7.4%) (p Conclusions: The rate of non-adherence in both settings of postmenopausal women was 7.7%, much lower than that described in the literature. This rate was increased in patients with metabolic syndrome;probably it is related to the complexity of the therapeutic scheme or to a poor consciousness of the disease. Therefore, implementing a tailored combined intervention can improve significantly patients’ adherence to medical therapy. 展开更多
关键词 ADHERENCE Cardiovascular Prevention Postmenopausal Women HYPERTENSIVE Metabolic syndrome
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Epidemiological, Clinical and Coronary Angiography Aspects of Acute Coronary Syndrome in the Cardiology Department of the Hospital Mother-Child “Le Luxembourg”Mali
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作者 Sidibé Samba Toure Mamadou +10 位作者 Konate Massama Sankaré Hamma Traoré Ousmane Mahamat Guire Sadik Diall Mahan Ameri Dicko Bahaide Daffe Sanoussy Keita Asmaou Thiam Coumba Adiaratou Diarra Soumaila Menta Ichaka 《World Journal of Cardiovascular Diseases》 CAS 2024年第4期228-233,共6页
Introduction: Cardiac catheterisation plays a fundamental role in the management of acute coronary syndrome. These explorations require heavy, complex and costly equipment and a large team of doctors, nurses and techn... Introduction: Cardiac catheterisation plays a fundamental role in the management of acute coronary syndrome. These explorations require heavy, complex and costly equipment and a large team of doctors, nurses and technicians with highly specialized training. Aims: To describe epidemiological, clinical and coronary angiography aspects of patients with acute coronary syndrome. Patients and Methods: Descriptive study from September 2019 to December 2023 in the Cardiology Department of the Hôpital Mère-Enfant of Bamako. Inclusion criteria were patients admitted for coronary angiography with the diagnosis of acute coronary syndrome. Results: During the study period, 1253 patients underwent coronary angiography, 596 of whom had acute coronary syndrome as an indication, representing a hospital frequency of 47%. Sex-ratio was 2.10. Mean age of patients was 58.5 ± 11.39 years. ST elevation acute coronary syndrome was the most common indication with 63.92% of cases. High blood pressure was the main cardiovascular risk factor with 58.7% of cases, and radial access approach was used in 98% of cases. Coronary angiography was pathological in 91.70% of cases (n = 548). Patients with lesions of anterior interventricular artery were 73.73% of cases. Tritruncal lesions accounted for 40.63% of cases. Conclusion: ST elevation acute coronary syndrome is the most frequent manifestation of acute coronary syndrome. Anterior interventricular artery is most often the culprit lesion for our patients. 展开更多
关键词 Coronary Angiography Acute Coronary syndrome BAMAKO MALI
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Clinical evolution of antisynthetase syndrome-associated interstitial lung disease after COVID-19 in a man with Klinefelter syndrome:A case report
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作者 Xiang-Xiang Wu Jian Cui +5 位作者 Shi-Yao Wang Tian-Tian Zhao Ya-Fei Yuan Long Yang Wei Zuo Wen-Jian Liao 《World Journal of Clinical Cases》 SCIE 2024年第6期1144-1149,共6页
BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS... BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS).CASE SUMMARY A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19.Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs,accompanied by signs of partial bronchial inflation.Metagenomic next-generation sequencing of the bronchoalveolar lavage fluid suggested absence of pathogen.A biopsy specimen revealed organizing pneumonia with alveolar septal thickening.Additionally,extensive auto-antibody tests showed strong positivity for anti-SSA,anti-SSB,anti-Jo-1,and anti-Ro-52.Following multidisciplinary discussions,the patient received a final diagnosis of AS,leading to rapidly progressing respiratory failure.CONCLUSION This study underscores the clinical progression of AS-associated interstitial lung disease subsequent to viral infections such as COVID-19 in patients diagnosed with KS. 展开更多
关键词 Antisynthetase syndrome COVID-19 Klinefelter syndrome Interstitial lung disease Anti-Jo-1 Case report
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Outcomes of combined mitochondria and mesenchymal stem cellsderived exosome therapy in rat acute respiratory distress syndrome and sepsis
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作者 Kun-Chen Lin Wen-Feng Fang +5 位作者 Jui-Ning Yeh John Y Chiang Hsin-Ju Chiang Pei-Lin Shao Pei-Hsun Sung Hon-Kan Yip 《World Journal of Stem Cells》 SCIE 2024年第6期690-707,共18页
BACKGROUND The treatment of acute respiratory distress syndrome(ARDS)complicated by sepsis syndrome(SS)remains challenging.AIM To investigate whether combined adipose-derived mesenchymal-stem-cells(ADMSCs)-derived exo... BACKGROUND The treatment of acute respiratory distress syndrome(ARDS)complicated by sepsis syndrome(SS)remains challenging.AIM To investigate whether combined adipose-derived mesenchymal-stem-cells(ADMSCs)-derived exosome(EXAD)and exogenous mitochondria(mitoEx)protect the lung from ARDS complicated by SS.METHODS In vitro study,including L2 cells treated with lipopolysaccharide(LPS)and in vivo study including male-adult-SD rats categorized into groups 1(sham-operated-control),2(ARDS-SS),3(ARDS-SS+EXAD),4(ARDS-SS+mitoEx),and 5(ARDS-SS+EXAD+mitoEx),were included in the present study.RESULTS In vitro study showed an abundance of mitoEx found in recipient-L2 cells,resulting in significantly higher mitochondrial-cytochrome-C,adenosine triphosphate and relative mitochondrial DNA levels(P<0.001).The protein levels of inflammation[interleukin(IL)-1β/tumor necrosis factor(TNF)-α/nuclear factor-κB/toll-like receptor(TLR)-4/matrix-metalloproteinase(MMP)-9/oxidative-stress(NOX-1/NOX-2)/apoptosis(cleaved-caspase3/cleaved-poly(ADP-ribose)polymerase)]were significantly attenuated in lipopolysaccharide(LPS)-treated L2 cells with EXAD treatment than without EXAD treatment,whereas the protein expressions of cellular junctions[occluding/β-catenin/zonula occludens(ZO)-1/E-cadherin]exhibited an opposite pattern of inflam-mation(all P<0.001).Animals were euthanized by 72 h post-48 h-ARDS induction,and lung tissues were harvested.By 72 h,flow cytometric analysis of bronchoalveolar lavage fluid demonstrated that the levels of inflam-matory cells(Ly6G+/CD14+/CD68+/CD11b/c+/myeloperoxidase+)and albumin were lowest in group 1,highest in group 2,and significantly higher in groups 3 and 4 than in group 5(all P<0.0001),whereas arterial oxygen-saturation(SaO2%)displayed an opposite pattern of albumin among the groups.Histopathological findings of lung injury/fibrosis area and inflammatory/DNA-damaged markers(CD68+/γ-H2AX)displayed an identical pattern of SaO2%among the groups(all P<0.0001).The protein expressions of inflammatory(TLR-4/MMP-9/IL-1β/TNF-α)/oxidative stress(NOX-1/NOX-2/p22phox/oxidized protein)/mitochondrial-damaged(cytosolic-cytochrome-C/dynamin-related protein 1)/autophagic(beclin-1/Atg-5/ratio of LC3B-II/LC3B-I)biomarkers exhibited a similar manner,whereas antioxidants[nuclear respiratory factor(Nrf)-1/Nrf-2]/cellular junctions(ZO-1/E-cadherin)/mitochondrial electron transport chain(complex I-V)exhibited an opposite manner of albumin among the groups(all P<0.0001).CONCLUSION Combined EXAD-mitoEx therapy was better than merely one for protecting the lung against ARDS-SS induced injury. 展开更多
关键词 Acute respiratory distress syndrome Sepsis syndrome EXOSOMES MITOCHONDRIA Adipose tissue-derived mesenchymal stem cells INFLAMMATION
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