Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture.

Familial predisposition is among the major genetic risk factors for non-contact musculoskeletal tissue injuries. Personal genome sequence shows that different polymorphism profiles may account for the number and the degree of injuries and the recovery time. Genotyping studies allow investigation into genome factors with potential impact on pathogenesis of non-contact ligament injuries. We have studied a family with twin sibling males surgically diagnosed of an anterior cruciate ligament non-contact rupture and non-affected progenitors (father and mother) were subjected to whole exome sequencing (WES) analysis. WES analysis previously carried out on 16 individuals, without ACL injury medical records, were also included in this study for single nucleotide variants (SNVs) and small insertions and deletions detection (indels), variant filtering and to prioritize variants relative to the disease. WES analysis to identify SNVs and indels was performed using open web-based bioinformatics tools. A set of 11 new variants shared by family members can be associated to ACL non-contact injury, including SerpinA11, ARSI, NOCHT4, EPB41, FDFT1, POMC, KIF26A, OLFML2B, ATG7, FAH and WDR6. All of them, except ATG7 and WDR6, have shown a damaging predictive pattern by combinatorial standard predictive scores. In combination to the identified SNVs of EPB41 and SerpinA11 genes, ACTL7A gene showed a predicted deleterious variant reinforcing the idea these variants impact on of fibroblast-like cells deformability and ECM misbalance, Differential gene expression and RNA sequencing analysis will help to understand the combined participation of these protein coding genes in ACL non-contact injuries.

[Krukenberg's tumor as the first clinical manifestation of fibrolamellar hepatocarcinoma]. / Tumor de Krukenberg como manifestación inicial de hepatocarcinoma fibrolamelar.

Krukenberg's tumor refers to unilateral or bilateral ovarian metastatic tumors whose origin may be known or unknown. The incidence of this type of tumor is difficult to evaluate but may represent between 3% and 8% of ovarian tumors. In most cases, the primary tumor is identified and is usually digestive (basically gastric or colorectal). There are some references to primary hepatic tumors (gall bladder tumor and hepatocarcinoma) but none to fibrolamellar hepatocarcinoma as the primary tumor. We present the case of a 45-year-old woman who presented with lower hemiabdominal pain and who was diagnosed with Krukenberg's tumor of hepatic origin. Although ovarian involvement in primary digestive tumors is possible, hepatic origin is rare.

Tumor de Krukenberg como manifestación inicial de hepatocarcinoma fibrolamelar / Krukenberg’s tumor as the first clinical manifestation of fibrolamellar hepatocarcinoma

El tumor de Krukenberg supone una variedad de cáncer metastático que infiltra de manera unilateral o bilateral el ovario, cuyo origen puede ser conocido o no. Su incidencia es difícil de evaluar, pero se estima que varía entre el 3 y el 8% de los tumores de ovario. En la mayoría de los casos se reconoce el tumor primario; éste es de origen digestivo (sobre todo gástrico o colorrectal). Hay alguna referencia al tumor primario hepático (vesícula biliar y hepatocarcinoma), pero ninguna al tumor de Krukenberg cuyo tumor primario hepático sea un hepatocarcinoma fibrolamelar. Presentamos el caso de una paciente de 45 años de edad, que presentó un dolor en hemiabdomen inferior, diagnosticado de tumor de Krukenberg de origen hepático. Aunque es posible la afectación ovárica como signo inicial de tumores digestivos, el origen hepático es raro

Krukenberg’s tumor refers to unilateral or bilateral ovarian metastatic tumors whose origin may be known or unknown. The incidence of this type of tumor is difficult to evaluate but may represent between 3% and 8% of ovarian tumors. In most cases, the primary tumor is identified and is usually digestive (basically gastric or colorectal). There are some references to primary hepatic tumors (gall bladder tumor and hepatocarcinoma) but none to fibrolamellar hepatocarcinoma as the primary tumor. We present the case of a 45-year-old woman who presented with lower hemiabdominal pain and who was diagnosed with Krukenberg’s tumor of hepatic origin. Although ovarian involvement in primary digestive tumors is possible, hepatic origin is rare (AU)

[Hepatic angiomyolipoma in two patients infected with hepatitis C virus]. / Angiomiolipoma hepático en dos pacientes con infección por el virus de la hepatitis C.

AIM: The aim of this study is to present our experience with two cases of hepatic angiomyolioma in hepatitis C virus (HCV) positive patients, and to up-date the clinical manage, diagnostic and treatment of this entity. CLINICAL OBSERVATIONS: Both cases were presented in women in their 4-5th decade of life. Clinical presentation was with symptoms in one but incidental in the other. Both were HCV positive. Values of alpha-fetoprotein were normal. Radiological imaging was not diagnostic. Histopathological examination and immunohistochemical findings gave the diagnosis of angiomyolipoma. At time of diagnosis the size of tumours was 4.8 and 8 cm of diameter. Both cases were treated with surgery in order to definetly rule out malignancy. After 6 and 3 years of follow-up, there is no evidence of recurrence. DISCUSSION AND CONCLUSION: The hepatic angiomyolipoma is a rare benign tumour, mimicking other liver tumours. Although no patognomonic features, there are some radiological findings that point out to the diagnosis of angiomy olipoma. Nevertheless, definitive diagnosis is done by his tological and immunohistochemical findings (HMB-45). The hepatic angiomyolipoma consists of varing proportion of three elements, mature fat cells, smooth muscle cells and blood vessels. Although it is a benign tumour, the difficulty in ruling out malignancy, prompted surgical management. It is not described its relation with HCV virus, thus we consider our cases as an coincident finding.

Angiomiolipoma hepático en dos pacientes con infección por el virus de la hepatitis C / Hepatic angiomyolipoma in two patients infected with hepatitis C virus

Objetivo: El objetivo de este estudio era presentar nuestra experiencia con 2 casos de angiomiolipoma hepático en pacientes con virus de la hepatitis C (VHC) positivo, y realizar una actualización del manejo clínico y tratamiento del angiomiolipoma hepático. Observaciones clínicas: Ambos casos se presentaron en mujeres en la cuarta-quinta décadas de la vida. La presentación clínica fue sintomática en una de ellas e incidental en la otra. Las 2 pacientes presentaban anticuerpos contra el VHC, y se planteó el diagnóstico diferencial con el hepatocarcinoma. Los valores de alfafetoproteína fueron normales. Las pruebas de imagen no fueron concluyentes y sólo la punción-aspiración con aguja fina y la inmunohistoquímica orientaron el diagnóstico de angiomiolipoma. El tamaño de las tumoraciones fue grande: 4,8 y 8 cm de diámetro, respectivamente. En ambos casos se requirió la realización de cirugía exerética para descartar definitivamente la malignidad. No hay evidencia de recidiva tras 6 y 3 años de seguimiento, respectivamente. Discusión y conclusión: El angiomiolipoma es una tumoración hepática benigna poco frecuente, que mimetiza otras lesiones hepáticas. Pese a la dificultad diagnóstica, una serie de datos radiológicos apoyan el diagnóstico de esta enfermedad. No obstante, el diagnóstico definitivo lo proporciona la anatomía patológica y la immunohistoquímica (HMB-45). Se trata de una lesión compuesta por tejido adiposo, células musculares lisas y vasos sanguíneos en diversas proporciones. Pese a su carácter benigno, la dificultad para descartar su malignidad obliga al tratamiento quirúrgico. No está descrita su relación etiopatogénica con el VHC, por lo que consideramos nuestros casos como un hallazgo coincidente

Aim: The aim of this study is to present our experience with two cases of hepatic angiomyolioma in hepatitis C virus (HCV) positive patients, and to up-date the clinical manage, diagnostic and treatment of this entity. Clinical observations: Both cases were presented in women in their 4-5th decade of life. Clinical presentation was with symptoms in one but incidental in the other. Both were HCV positive. Values of alpha-fetoprotein were normal. Radiological imaging was not diagnostic. Histopathological examination and immunohistochemical findings gave the diagnosis angiomyolipoma. At time of diagnosis the size of tumours was 4.8 and 8 cm of diameter. Both cases were treated with surgery in order to definetly discard malignancy. After 6 and 3 years of follow-up, there is no evidence of recurrence. Discussion and conclusion: The hepatic angiomyolipoma is a rare benign tumour, mimicking other liver tumours. Although no patognomonic features, there are some radiological findings that point out to the diagnosis of angiomy olipoma. Nevertheless, definitive diagnosis is done by his tological and immunohistochemical findings (HMB-45). The hepatic angiomyolipoma consists of varing proportion of three elements, mature fat cells, smooth muscle cells and blood vessels. Although it is a bening tumour, the difficulty in discarding malignancy, prompt to surgical management. It is not described its relation with HCV virus, thus we consider our cases as an coincident finding

Paraganglioma de vesícula biliar / Paraganglioma of the gallbladder

No disponible

A prospective randomized trial comparing tacrolimus and steroids with tacrolimus monotherapy in liver transplantation: the impact on recurrence of hepatitis C.

The aim of this prospective randomized trial was to study the efficacy and safety of tacrolimus monotherapy (TACRO) and compare it with our standard treatment of tacrolimus plus steroids (TACRO + ST) after liver transplant (LT). Furthermore, the impact of steroid-free immunosuppression on outcome of hepatitis C virus (HCV) was analysed. Between 1998 and 2000, 60 patients (mean age: 57 years) were included in the study and randomized to receive TACRO (n = 28) or TACRO + ST (n = 32). Indication for LT was postnecrotic cirrhosis in all cases (58.3% were HCV-positive). Mean follow-up was 44 months. Survival, incidence of rejection, infection and side-effects were compared between the two groups. In patients with HCV infection, incidence and severity of acute hepatitis C, long-term outcome of recurrent hepatitis C and survival were studied in an intention-to-treat analysis or in the real group analysis (real-TACRO versus real-TACRO + ST). Patient survival at 1, 3 and 5 years, tacrolimus pharmacokinetics, incidence of rejection infections and side-effects were similar. In patients with HCV, the incidence and severity of graft hepatitis C tended to be lower in TACRO (47%) compared with TACRO + ST (67%) (P = NS), and also in real-TACRO (42%) compared with real-TACRO + ST (61%) (P = NS). A poor outcome considered as evolution to cirrhosis at 3 years was observed in one (9%) living patient in real-TACRO and nine (45%) in real-TACRO + ST (P = 0.04). Patient survival at 1, 3 and 5 years was 92%, 92% and 73% for real-TACRO and 78%, 61% and 51% for real TACRO + ST (P = 0.07). Steroid-free immunosuppression appears to be safe and efficacious. The main advantage of this regimen could be in HCV patients, as recurrence of hepatitis in the graft was less severe in the group of patients in whom steroids could be avoided completely.

Resection for hepatocellular carcinoma is a good option in Child-Turcotte-Pugh class A patients with cirrhosis who are eligible for liver transplantation.

The best treatment option for patients with single, early hepatocellular carcinoma (HCC) and cirrhosis, good liver function, and absence of portal hypertension remains to be established. The aim of this work was to compare the outcome of liver resection (LR) with that of liver transplantation (LT) for single, early HCC in Child-Turcotte-Pugh class A patients with cirrhosis younger than 70 years of age. Thirty-seven of 134 patients who underwent LR and 36 of 125 who underwent LT for HCC in our unit fulfilled the inclusion criteria. No differences were observed in mean tumor size (3 cm); HCV cirrhosis predominated in the LT group and older age in the LR group. Postoperative mortality was higher and hospital stay longer in the LT group. Patient survival was similar in both groups. Tumor recurrence was higher in the LR group (59% vs. 11%), extrahepatic recurrences predominated after LT and hepatic recurrences after LR. Disease-free survival was significantly better after LT. Eighteen patients presented hepatic recurrence after LR: 5 advanced and 13 early. Seventeen patients--13 with early HCC recurrence and 4 with liver failure--were potential candidates for salvage LT. However, 10 of 17 patients were older than 70 years at this time. Salvage LT could only be performed in 6 patients: 5 for HCC recurrence and 1 for liver failure. Results of salvage LT were similar to those of primary LT. In conclusion, only 27.6% of resected patients were eligible for LT. LR is a good option since it offers similar survival to LT. Salvage liver transplantation was performed in 16.2% of resected patients, with older age being the main contraindication. Outcome of salvage LT was similar to that of primary LT.

Pileflebitis secundaria a perforación de divertículo ileal / Pylephlebitis secondary to perforated ileal diverticulitis

La diverticulosis del intestino delgado es una entidad rara que afecta fundamentalmente al yeyuno; la localización en íleon distal es la menos frecuente. La complicación más frecuente de la diverticulosis son la inflamación y la perforación. Presentamos un caso de diverticulitis ileal con trombosis séptica (pileflebitis) de la vena mesentérica superior (VMS) diagnosticada por tomografía computarizada (TC), confirmado anatomopatológicamente. Revisamos la bibliografía referente a estas dos patologías (AU)