Scleroderma(or systemic sclerosis) is a rare disease associated with significant morbidity and mortality.Although previously thought to have a uniformly poor prognosis,the outlook has changed in recent years.We review...Scleroderma(or systemic sclerosis) is a rare disease associated with significant morbidity and mortality.Although previously thought to have a uniformly poor prognosis,the outlook has changed in recent years.We review recent insights into the pathogenesis,clinical features,assessment and management of scleroderma.展开更多
AIM:To establish the frequency and clinical features of connective tissue diseases(CTDs)in a cohort of Chinese patients with primary biliary cirrhosis(PBC).METHODS:Three-hundred and twenty-two Chinese PBC patients wer...AIM:To establish the frequency and clinical features of connective tissue diseases(CTDs)in a cohort of Chinese patients with primary biliary cirrhosis(PBC).METHODS:Three-hundred and twenty-two Chinese PBC patients were screened for the presence of CTD,and the systemic involvement was assessed.The differences in clinical features and laboratory findings between PBC patients with and without CTD were documented.The diversity of incidence of CTDs in PBC of different countries and areas was discussed.For the comparison of normally distributed data,Student’s t test was used,while non-parametric test(Wilcoxon test)for the non-normally distributed data and 2×2χ2or Fisher’s exact tests for the ratio.RESULTS:One-hundred and fifty(46.6%)PBC patients had one or more CTDs.The most common CTD was Sj gren’s syndrome(SS,121 cases,36.2%).There were nine cases of systemic sclerosis(SSc,2.8%),12of systemic lupus erythematosus(SLE,3.7%),nine of rheumatoid arthritis(RA,2.8%),and 10 of polymyositis(PM,3.1%)in this cohort.Compared to patients with PBC only,the PBC+SS patients were more likely to have fever and elevated erythrocyte sedimentation rate(ESR),higher serum immunoglobulin G(IgG)levels and more frequent rheumatoid factor(RF)and interstitial lung disease(ILD)incidences;PBC+SSc patients had higher frequency of ILD;PBC+SLE patients had lower white blood cell(WBC)count,hemoglobin(Hb),platelet count,γ-glutamyl transpeptidase and immunoglobulin M levels,but higher frequency of renal involvement;PBC+RA patients had lower Hb,higher serum IgG,alkaline phosphatase,faster ESR and a higher ratio of RF positivity;PBC+PM patients had higher WBC count and a tendency towards myocardial involvement.CONCLUSION:Besides the common liver manifestation of PBC,systemic involvement and overlaps with other CTDs are not infrequent in Chinese patients.When overlapping with other CTDs,PBC patients manifested some special clinical and laboratory features which may have effect on the prognosis.展开更多
Peripheral vascular disease embraces a variety of conditions such as thromboangiitis obliterans, Raynaud's disease, thrombophlebitis, aorto-arteritis, obliterate atherosclerosis, varix or phlebothrombosis of the l...Peripheral vascular disease embraces a variety of conditions such as thromboangiitis obliterans, Raynaud's disease, thrombophlebitis, aorto-arteritis, obliterate atherosclerosis, varix or phlebothrombosis of the lower limb. Although the affected blood vessel may be arterial or venous one and caused either by inflammation or degenerate changes, they share common symptoms and signs, such as blood stasis, ischemia, thrombosis, ecchymosis, swelling, constriction or obliteration of blood vessels due to circulatory impairment. Since they share common characteristics, the treating principles and methods will be discussed as follows.展开更多
Raynaud’s phenomenon is a symptom complex manifested as intermittent fingertip ischemia caused by cold or other sympathetic drivers.Secondary Raynaud’s phenomenon is often more severe and could even lead to finger u...Raynaud’s phenomenon is a symptom complex manifested as intermittent fingertip ischemia caused by cold or other sympathetic drivers.Secondary Raynaud’s phenomenon is often more severe and could even lead to finger ulceration,making it particularly complicated to treat.We describe a case of severe Raynaud’s phenomenon secondary to subclinical hypothyroidism lasting for more than 6 hours in a 65-year-old woman.The patient was also diagnosed with hypothyroidism,epilepsy,and secondary soft tissue infection of the right middle and ring fingers.After careful multidisciplinary consultation and discussion,the patient received vasodilation,anticoagulation,thyroxine supplementation,stellate ganglion block,hyperbaric oxygen therapy and debridement.The patient responded well to the medication,avoiding amputation or obviously dysfunction.Multidisciplinary team gathering the doctors from different departments proposes appropriate strategies for patients with severe Raynaud’s phenomenon and could improve the prognosis and satisfaction of patient effectively.展开更多
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A 〉 T nucleotide transition in the TNXB gene causing...We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A 〉 T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classifed as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient’s symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome （EDS）. At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X defciency, but the variant identifed in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074A 〉 T nucleotide transition in the TNXB gene may be classifed as disease-causing for EDS due to tenascin-X defciency.展开更多
The study of various medical conditions is limited by the current state of knowledge. New tech-nologies enable researchers to advance their understanding of various medical conditions and to advance their understandin...The study of various medical conditions is limited by the current state of knowledge. New tech-nologies enable researchers to advance their understanding of various medical conditions and to advance their understanding of particular pathologies. Strannik Virtual Scanning (SVS) is such a technology. SVS is able to determine the genetic and non-genetic components of every pathology in each of the 30 main organs, and it is able to determine the onset of pathologies at a much earlier stage than any other technologies or techniques. This makes it an ideal tool to screen for the onset and progression of pathologies which are implicated in multi-systemic conditions and to determine the spectrum of pathologies i.e. comorbidities which are involved in diabetes, cardiovascular disease, migraine, chronic fatigue syndrome, fibromyalgia, depression, chronic kidney disease, etc. This case study illustrates how the technology can be usefully and cost-effectively deployed to determine the spectrum of pathologies which characterise Reynaud’s phenomenon. This includes pathologies in the liver and kidneys e.g. portal hypertension, renal insufficiency, nephritis, liver insufficiency, pre-symptomatic onset of heart attack, presymptomatic indications of dementia, pancreatic cancer, and ovarian cancer, which are difficult to diagnose and/or for which there is currently an unmet clinical need.展开更多
OBJECTIVE: To show whether Danggui Sini plus Wuzhuyu Shengjiang Tang(DSWST) has any transient effect on erythrocyte deformability in normal subjects.METHODS: A total of 25 subjects [mean age(27.8± 1.8) years] was...OBJECTIVE: To show whether Danggui Sini plus Wuzhuyu Shengjiang Tang(DSWST) has any transient effect on erythrocyte deformability in normal subjects.METHODS: A total of 25 subjects [mean age(27.8± 1.8) years] was enrolled in this study. The study was designed as a cross-over trial in which the subjects took part for 2 d. On the first day, blood samples were collected at baseline and 1-2 h after administration of water, whereas, on the second day, instead of water, the subjects were administered DSWST after the baseline blood sampling. The blood samples collected at baseline and after the administration water or DSWST, were examined for erythrocyte deformability.RESULTS: The elongation index increased significantly after 2 h(P = 0.009) compared to the baseline after DSWST intake. However, after water intake, there was no significant differenceobserved. When comparing the percent change of erythrocyte deformability between DSWST and water, we found that after 2 h of administration,DSWST improved erythrocyte deformability significantly compared to water(P < 0.001).CONCLUSION: DSWST has a transient effect on erythrocyte deformability in normal subjects.展开更多
文摘Scleroderma(or systemic sclerosis) is a rare disease associated with significant morbidity and mortality.Although previously thought to have a uniformly poor prognosis,the outlook has changed in recent years.We review recent insights into the pathogenesis,clinical features,assessment and management of scleroderma.
基金Supported by Grants from the Research Special Fund for Public Welfare Industry of Health,No.201202004the National Major Scientific and Technological Special Project for"Significant New Drugs Development",No.2012ZX09303006-002the National High Technology Research and Development Program of China,No.2011AA020111
文摘AIM:To establish the frequency and clinical features of connective tissue diseases(CTDs)in a cohort of Chinese patients with primary biliary cirrhosis(PBC).METHODS:Three-hundred and twenty-two Chinese PBC patients were screened for the presence of CTD,and the systemic involvement was assessed.The differences in clinical features and laboratory findings between PBC patients with and without CTD were documented.The diversity of incidence of CTDs in PBC of different countries and areas was discussed.For the comparison of normally distributed data,Student’s t test was used,while non-parametric test(Wilcoxon test)for the non-normally distributed data and 2×2χ2or Fisher’s exact tests for the ratio.RESULTS:One-hundred and fifty(46.6%)PBC patients had one or more CTDs.The most common CTD was Sj gren’s syndrome(SS,121 cases,36.2%).There were nine cases of systemic sclerosis(SSc,2.8%),12of systemic lupus erythematosus(SLE,3.7%),nine of rheumatoid arthritis(RA,2.8%),and 10 of polymyositis(PM,3.1%)in this cohort.Compared to patients with PBC only,the PBC+SS patients were more likely to have fever and elevated erythrocyte sedimentation rate(ESR),higher serum immunoglobulin G(IgG)levels and more frequent rheumatoid factor(RF)and interstitial lung disease(ILD)incidences;PBC+SSc patients had higher frequency of ILD;PBC+SLE patients had lower white blood cell(WBC)count,hemoglobin(Hb),platelet count,γ-glutamyl transpeptidase and immunoglobulin M levels,but higher frequency of renal involvement;PBC+RA patients had lower Hb,higher serum IgG,alkaline phosphatase,faster ESR and a higher ratio of RF positivity;PBC+PM patients had higher WBC count and a tendency towards myocardial involvement.CONCLUSION:Besides the common liver manifestation of PBC,systemic involvement and overlaps with other CTDs are not infrequent in Chinese patients.When overlapping with other CTDs,PBC patients manifested some special clinical and laboratory features which may have effect on the prognosis.
文摘Peripheral vascular disease embraces a variety of conditions such as thromboangiitis obliterans, Raynaud's disease, thrombophlebitis, aorto-arteritis, obliterate atherosclerosis, varix or phlebothrombosis of the lower limb. Although the affected blood vessel may be arterial or venous one and caused either by inflammation or degenerate changes, they share common symptoms and signs, such as blood stasis, ischemia, thrombosis, ecchymosis, swelling, constriction or obliteration of blood vessels due to circulatory impairment. Since they share common characteristics, the treating principles and methods will be discussed as follows.
文摘Raynaud’s phenomenon is a symptom complex manifested as intermittent fingertip ischemia caused by cold or other sympathetic drivers.Secondary Raynaud’s phenomenon is often more severe and could even lead to finger ulceration,making it particularly complicated to treat.We describe a case of severe Raynaud’s phenomenon secondary to subclinical hypothyroidism lasting for more than 6 hours in a 65-year-old woman.The patient was also diagnosed with hypothyroidism,epilepsy,and secondary soft tissue infection of the right middle and ring fingers.After careful multidisciplinary consultation and discussion,the patient received vasodilation,anticoagulation,thyroxine supplementation,stellate ganglion block,hyperbaric oxygen therapy and debridement.The patient responded well to the medication,avoiding amputation or obviously dysfunction.Multidisciplinary team gathering the doctors from different departments proposes appropriate strategies for patients with severe Raynaud’s phenomenon and could improve the prognosis and satisfaction of patient effectively.
基金Supported by The National Institute of Child Health and Human Development(NICHD),No.HD02528
文摘We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A 〉 T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classifed as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient’s symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome （EDS）. At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X defciency, but the variant identifed in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074A 〉 T nucleotide transition in the TNXB gene may be classifed as disease-causing for EDS due to tenascin-X defciency.
文摘The study of various medical conditions is limited by the current state of knowledge. New tech-nologies enable researchers to advance their understanding of various medical conditions and to advance their understanding of particular pathologies. Strannik Virtual Scanning (SVS) is such a technology. SVS is able to determine the genetic and non-genetic components of every pathology in each of the 30 main organs, and it is able to determine the onset of pathologies at a much earlier stage than any other technologies or techniques. This makes it an ideal tool to screen for the onset and progression of pathologies which are implicated in multi-systemic conditions and to determine the spectrum of pathologies i.e. comorbidities which are involved in diabetes, cardiovascular disease, migraine, chronic fatigue syndrome, fibromyalgia, depression, chronic kidney disease, etc. This case study illustrates how the technology can be usefully and cost-effectively deployed to determine the spectrum of pathologies which characterise Reynaud’s phenomenon. This includes pathologies in the liver and kidneys e.g. portal hypertension, renal insufficiency, nephritis, liver insufficiency, pre-symptomatic onset of heart attack, presymptomatic indications of dementia, pancreatic cancer, and ovarian cancer, which are difficult to diagnose and/or for which there is currently an unmet clinical need.
文摘OBJECTIVE: To show whether Danggui Sini plus Wuzhuyu Shengjiang Tang(DSWST) has any transient effect on erythrocyte deformability in normal subjects.METHODS: A total of 25 subjects [mean age(27.8± 1.8) years] was enrolled in this study. The study was designed as a cross-over trial in which the subjects took part for 2 d. On the first day, blood samples were collected at baseline and 1-2 h after administration of water, whereas, on the second day, instead of water, the subjects were administered DSWST after the baseline blood sampling. The blood samples collected at baseline and after the administration water or DSWST, were examined for erythrocyte deformability.RESULTS: The elongation index increased significantly after 2 h(P = 0.009) compared to the baseline after DSWST intake. However, after water intake, there was no significant differenceobserved. When comparing the percent change of erythrocyte deformability between DSWST and water, we found that after 2 h of administration,DSWST improved erythrocyte deformability significantly compared to water(P < 0.001).CONCLUSION: DSWST has a transient effect on erythrocyte deformability in normal subjects.
