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1.
Int J Surg Case Rep ; 118: 109619, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38626639

RESUMO

INTRODUCTION AND IMPORTANCE: Encysted spermatic cord hydrocele is a rare anomaly characterized by obstruction of processus vaginalis closure. Clinically, it presents as a swelling in the inguinal region extending to the upper scrotum and does not communicate with the peritoneal cavity. It is often mistaken for indirect inguinal hernias, inguinal lymphadenopathy, undescended testis, and primary tumors of the cord in infants and children, making the diagnosis challenging. CASE PRESENTATION: We report the cases of five male patients aged nine months to 12 years who presented with painless swelling on the right side of the scrotal region. Physical examination revealed firm masses in the right inguinal region with positive transillumination, negative cough impulse tests, and irreducibility. Inguinal and scrotal ultrasonography showed an anechoic cystic lesion with thin walls, without any signs suggestive of a hernia. Patients were diagnosed with encysted spermatic cord hydrocele and advised to undergo cyst excision. The postoperative periods were uneventful, and expected recovery was observed at one-week and one-month follow-ups. CLINICAL DISCUSSION: Encysted spermatic cord hydroceles are rare causes of painless inguinal swelling. The medical history and clinical findings can be used to establish a diagnosis, which can be confirmed using ultrasonography. Management depends on differentiating between spermatic cord hydrocele and scrotal hydrocele and involves considering the type. Treatment options range from conservative measures to surgery, particularly for non-communicating hydroceles that persist beyond 12-18 months or enlarge in size. CONCLUSION: Encysted hydrocele of the cord is rare and is often mistaken for indirect inguinal hernias in infants and children. This similarity makes the diagnosis challenging and necessitates vigilance from clinicians. Surgical intervention results in optimal outcomes, especially in cases where the hydrocele persists beyond 12-18 months or with size progression.

2.
J Orthop Surg Res ; 14(1): 337, 2019 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-31665048

RESUMO

BACKGROUND: Osteoarthritis (OA) is a common cause of musculoskeletal disability among elders and is characterized by late-onset degeneration of articular cartilage. OA affects various joints, commonly hand, knee, and hip, with clinical features that are unique to each joint. This study was initiated to identify and evaluate the role of the ASPN and COMP genes in the development of knee OA. METHODS: A case-control study was carried out involving 500 cases with knee OA (diagnosed by the American College of Rheumatology) and an equal number of healthy controls. Blood was drawn for genomic DNA isolation. PCR-RFLP and TaqMan assay methods were used to identify the SNPs. mRNA and protein expression of genes were carried out in peripheral blood lymphocytes (PBLs) by RT-PCR and Western immunoblotting. The data obtained were analyzed for the statistical significance between control and case groups. RESULTS: The variant genotype of ASPN and COMP genes was found to be present at a relatively higher frequency in cases than controls. RT-PCR and immunochemical studies revealed increased mRNA and protein expression of such gene in PBLs isolated from cases of knee OA as compared to healthy control. CONCLUSION: The allelic alteration in ASPN and COMP genes in knee OA cases points to the role of these genes in the development of knee OA. Further, increased mRNA and protein expression of ASPN and COMP in peripheral blood samples of patients with the disease suggest that expression profile of candidate gene could be used as a biomarker for predicting the development and progression of knee OA.


Assuntos
Proteína de Matriz Oligomérica de Cartilagem/sangue , Proteína de Matriz Oligomérica de Cartilagem/genética , Proteínas da Matriz Extracelular/sangue , Proteínas da Matriz Extracelular/genética , Osteoartrite do Joelho/sangue , Osteoartrite do Joelho/genética , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/diagnóstico por imagem , Polimorfismo Genético/genética
3.
J Nucleic Acids ; 2017: 3138254, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29129999

RESUMO

INTRODUCTION: Genetic factors including the level of expression of the fingerprint of genes involved in the development of bones and cartilage such as GDF-5 or ESR-α or CALM-1 are known to be strong determinants of the osteoarthritis (OA) in Caucasian and Oriental populations. Because of high prevalence of OA in Indian population and availability of limited genetic data, we determined whether similar genetic factors are involved in Indians as well. METHODS: A case control study was carried out involving 500 patients of knee OA and equal number of healthy controls. Genotyping analyses in whole blood, mRNA, and protein expressions in peripheral blood lymphocytes (PBLs) were performed using established protocols. RESULTS: Our results showed a significantly decreased level of mRNA and protein expressions for GDF-5, ESR-α, and CALM-1 genes in PBLs of OA cases when compared to healthy controls. The frequency of variant genotypes of these genes was also increased significantly in cases of OA compared to controls. CONCLUSION: Our results demonstrated that the decrease in expression of GDF-5, ESR-α, and CALM-1 in PBLs and association of polymorphism in these genes may be important in predicting the severity and thereby the progression of OA in Indian population.

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