Intersection syndrome is a rare sports overuse injury occurring through friction at the intersection of the first and second compartment of the forearm. Differential diagnosis must be carefully made, especially from D...Intersection syndrome is a rare sports overuse injury occurring through friction at the intersection of the first and second compartment of the forearm. Differential diagnosis must be carefully made, especially from De Quervain tendonsynovitis. Clinical examination provides with the necessary information for diagnosis, still magnetic resonance imaging scans and ultrasonography may assist in diagnosis. Treatment consists mainly of rest, use of a thumb spica splint, analgetic and oral nonsteroidal anti-inflammatory drugs and after 2-3 wk progressive stretching and muscle strengthening. Should symptoms persist beyond this time, corticosteroid injections adjacent to the site of injury may be useful. In refractory cases, surgical intervention is warranted.展开更多
BACKGROUND Retroperitoneal liposarcoma(RLPS)is a rare malignant tumor of the connective tissue and usually grows to a large size,undetected.Diagnosis is currently based on collective findings from clinical examination...BACKGROUND Retroperitoneal liposarcoma(RLPS)is a rare malignant tumor of the connective tissue and usually grows to a large size,undetected.Diagnosis is currently based on collective findings from clinical examinations and computed tomography(CT)and magnetic resonance imaging,the latter of which show a fat density mass and possible surrounding organ involvement.Surgical resection is the main therapeutic strategy.The efficacy and safety of further therapeutic choices,such as chemotherapy and radiotherapy,are still controversial.CASE SUMMARY A 61-year-old man presented with complaint of a large left inguinal mass that had appeared suddenly,after a slight exertion.Ultrasonography revealed an omental inguinal hernia.During further clinical examination,an enormous palpable abdominal mass,continuing from the left inguinal location,was observed.CT revealed a giant RLPS,with remarkable mass effect and wide visceral dislocation.After multidisciplinary consultation,surgical intervention was performed.Subsequent neoadjuvant chemotherapy and radiotherapy were precluded by the mass’large size and retroperitoneal localization,features typically associated with non-response to these types of treatment.Instead,the patient underwent conservative treatment via radical surgical excision.After 1 year,his clinical condition remained good,with no radiological signs of recurrence.CONCLUSION Conservative treatment via surgery resulted in a successful outcome for a large RLPS.展开更多
Thromboangiitis Obliterans (TAO), a common peripheral vascular disease with a long illness course and grave sufferings, can cause acromelic gangrene, ulcer and even amputation at the late stage. We have for many years...Thromboangiitis Obliterans (TAO), a common peripheral vascular disease with a long illness course and grave sufferings, can cause acromelic gangrene, ulcer and even amputation at the late stage. We have for many years used TCM syndrome differentiation to diagnose and treat the disease with good therapeutic results. The treatment of 64 TAO cases from 2001 to 2002 is reported as follows.展开更多
Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical...Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical to milder nonclassical or late-onset phenotypes. Renal involvement, termed Fabry Nephropathy (FN), can vary from mild proteinuria to kidney failure. FN diagnosis, especially in nonclassical cases with a genetic Variant of Unknown Significance (VUS) in the GLA gene, poses challenges. Measurement of plasma lyso-Gb3 levels is gaining importance in FN diagnosis, while renal biopsy with electron microscopy remains the gold standard in equivocal cases. Treatment options include Enzyme Replacement Therapy (ERT) and chaperone therapy, demanding careful candidate selection due to high treatment costs. Research has predominantly focused on classical FD, revealing modest treatment benefits. However, evidence for treating patients, especially females, with milder nonclassical or late-onset phenotypes is scarce, emphasizing the necessity for placebo-controlled clinical trials in these subgroups. Meanwhile, participation in global FD registries can improve our understanding of disease management. Case Presentation: A woman in her late sixties presented with moderate chronic kidney disease, mild proteinuria, and microscopic hematuria. Her family history included a prevalence of renal, cardiac and cerebrovascular diseases. Kidney biopsy revealed characteristic myelin figures and zebra bodies in podocytes, strongly suggestive of FN. Genetic analysis identified a VUS in the GLA gene (c.655A > C, p.Ile219Leu), introducing diagnostic uncertainty. Further investigations revealed severe cardiac involvement. Considering the recurring difficulty presented by the finding of a VUS in the GLA gene during FN assessments, along with the uncertainty regarding the need for treatment in nonclassical or late-onset FD phenotypes, especially in women, this case becomes a central focus for a thorough review of the literature. This review aims to propose a practical algorithm that integrates clinical, biochemical, and genetic markers for FN screening and diagnosis. Additionally, it explores treatment benefits in nonclassical or late-onset FD phenotypes, with a focus on female patients.展开更多
文摘Intersection syndrome is a rare sports overuse injury occurring through friction at the intersection of the first and second compartment of the forearm. Differential diagnosis must be carefully made, especially from De Quervain tendonsynovitis. Clinical examination provides with the necessary information for diagnosis, still magnetic resonance imaging scans and ultrasonography may assist in diagnosis. Treatment consists mainly of rest, use of a thumb spica splint, analgetic and oral nonsteroidal anti-inflammatory drugs and after 2-3 wk progressive stretching and muscle strengthening. Should symptoms persist beyond this time, corticosteroid injections adjacent to the site of injury may be useful. In refractory cases, surgical intervention is warranted.
文摘BACKGROUND Retroperitoneal liposarcoma(RLPS)is a rare malignant tumor of the connective tissue and usually grows to a large size,undetected.Diagnosis is currently based on collective findings from clinical examinations and computed tomography(CT)and magnetic resonance imaging,the latter of which show a fat density mass and possible surrounding organ involvement.Surgical resection is the main therapeutic strategy.The efficacy and safety of further therapeutic choices,such as chemotherapy and radiotherapy,are still controversial.CASE SUMMARY A 61-year-old man presented with complaint of a large left inguinal mass that had appeared suddenly,after a slight exertion.Ultrasonography revealed an omental inguinal hernia.During further clinical examination,an enormous palpable abdominal mass,continuing from the left inguinal location,was observed.CT revealed a giant RLPS,with remarkable mass effect and wide visceral dislocation.After multidisciplinary consultation,surgical intervention was performed.Subsequent neoadjuvant chemotherapy and radiotherapy were precluded by the mass’large size and retroperitoneal localization,features typically associated with non-response to these types of treatment.Instead,the patient underwent conservative treatment via radical surgical excision.After 1 year,his clinical condition remained good,with no radiological signs of recurrence.CONCLUSION Conservative treatment via surgery resulted in a successful outcome for a large RLPS.
文摘Thromboangiitis Obliterans (TAO), a common peripheral vascular disease with a long illness course and grave sufferings, can cause acromelic gangrene, ulcer and even amputation at the late stage. We have for many years used TCM syndrome differentiation to diagnose and treat the disease with good therapeutic results. The treatment of 64 TAO cases from 2001 to 2002 is reported as follows.
文摘Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical to milder nonclassical or late-onset phenotypes. Renal involvement, termed Fabry Nephropathy (FN), can vary from mild proteinuria to kidney failure. FN diagnosis, especially in nonclassical cases with a genetic Variant of Unknown Significance (VUS) in the GLA gene, poses challenges. Measurement of plasma lyso-Gb3 levels is gaining importance in FN diagnosis, while renal biopsy with electron microscopy remains the gold standard in equivocal cases. Treatment options include Enzyme Replacement Therapy (ERT) and chaperone therapy, demanding careful candidate selection due to high treatment costs. Research has predominantly focused on classical FD, revealing modest treatment benefits. However, evidence for treating patients, especially females, with milder nonclassical or late-onset phenotypes is scarce, emphasizing the necessity for placebo-controlled clinical trials in these subgroups. Meanwhile, participation in global FD registries can improve our understanding of disease management. Case Presentation: A woman in her late sixties presented with moderate chronic kidney disease, mild proteinuria, and microscopic hematuria. Her family history included a prevalence of renal, cardiac and cerebrovascular diseases. Kidney biopsy revealed characteristic myelin figures and zebra bodies in podocytes, strongly suggestive of FN. Genetic analysis identified a VUS in the GLA gene (c.655A > C, p.Ile219Leu), introducing diagnostic uncertainty. Further investigations revealed severe cardiac involvement. Considering the recurring difficulty presented by the finding of a VUS in the GLA gene during FN assessments, along with the uncertainty regarding the need for treatment in nonclassical or late-onset FD phenotypes, especially in women, this case becomes a central focus for a thorough review of the literature. This review aims to propose a practical algorithm that integrates clinical, biochemical, and genetic markers for FN screening and diagnosis. Additionally, it explores treatment benefits in nonclassical or late-onset FD phenotypes, with a focus on female patients.
