In vitro fertilization: an unexpected finding in a cohort of patients with biliary atresia.

In biliary atresia (BA), efforts to prevent premature liver transplantation (LT) are aimed at early diagnosis, timing of Kasai-portoenterostomy (KPE), and centralization of care. This report presents the clinical picture, treatment strategies, and outcomes of BA patients with no previous treatment. A retrospective cohort study (Jan/2001 to Jan/2021) was conducted to evaluate the outcome of patients with BA referred to a single team. Study groups were: 1) Kasai-only group (K-only) n=9), 2) LT-only group (n=7), and 3) Kasai+LT group (K+LT) (n=23). Survival with native liver and overall survival were 22.9 and 94.8%, respectively, at 120 months of follow-up. There was no difference in age at KPE in the K-only group (46.8±21.8 days) vs K+LT (52.1±22 days), P=0.4. Ten (25.6%) patients were babies conceived through in vitro fertilization (IVF). Four IVF patients (40%) presented associated congenital heart disease vs 5 patients (17%) in the remaining group (P=0.14). Two of the IVF patients were premature (<37 weeks). Median maternal age at birth was 35 years (33 to 41 years). Excellent patient survival is expected for patients with BA with the available treatment strategies. IVF+BA was an unexpected prevalent association in this cohort, and further studies are required to better understand these findings.

In vitro fertilization: an unexpected finding in a cohort of patients with biliary atresia

In biliary atresia (BA), efforts to prevent premature liver transplantation (LT) are aimed at early diagnosis, timing of Kasai-portoenterostomy (KPE), and centralization of care. This report presents the clinical picture, treatment strategies, and outcomes of BA patients with no previous treatment. A retrospective cohort study (Jan/2001 to Jan/2021) was conducted to evaluate the outcome of patients with BA referred to a single team. Study groups were: 1) Kasai-only group (K-only) n=9), 2) LT-only group (n=7), and 3) Kasai+LT group (K+LT) (n=23). Survival with native liver and overall survival were 22.9 and 94.8%, respectively, at 120 months of follow-up. There was no difference in age at KPE in the K-only group (46.8±21.8 days) vs K+LT (52.1±22 days), P=0.4. Ten (25.6%) patients were babies conceived through in vitro fertilization (IVF). Four IVF patients (40%) presented associated congenital heart disease vs 5 patients (17%) in the remaining group (P=0.14). Two of the IVF patients were premature (<37 weeks). Median maternal age at birth was 35 years (33 to 41 years). Excellent patient survival is expected for patients with BA with the available treatment strategies. IVF+BA was an unexpected prevalent association in this cohort, and further studies are required to better understand these findings.

Long-term outcomes of transmesenteric portal vein recanalization for the treatment of chronic portal vein thrombosis after pediatric liver transplantation.

Portal vein thrombosis (PVT) may occur at any time following liver transplantation. We describe our experience with portal vein recanalization in cases of thrombosis after liver transplantation. Twenty-eight children (5%) out of 566 liver transplant recipients underwent portal vein recanalization using a transmesenteric approach. All children received left hepatic segments, developed PVT, and had symptoms or signs of portal hypertension. Portal vein recanalization was performed via the transmesenteric route in all cases. Twenty-two (78.6%) patients underwent successful recanalization and stent placement. They received oral anticoagulants after the procedure, and clinical symptoms subsided. Symptoms recurred due to portal vein restenosis/thrombosis in seven patients. On an intention-to-treat basis, the success rate of the proposed treatment was 60.7%. Only 17 out of 28 children with posttransplant chronic PVT retained stent patency (primary + assisted) at the end of the study period. In cases of portal vein obstruction, the transmesenteric approach via minilaparotomy is technically feasible with good clinical and hemodynamic results. It is an alternative procedure to reestablish the portal flow to the liver graft that can be performed in selected cases and a therapeutic addition to other treatment strategies currently used to treat chronic PVT.

Successful domino liver transplantation in maple syrup urine disease using a related living donor

Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient's mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, and DBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD.

Successful domino liver transplantation in maple syrup urine disease using a related living donor.

Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient's mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, and DBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD.

Chronic active hepatitis associated with anti-liver-kidney microsome antibody type 1.

A 3 years old girl presented with clinical feature of an acute hepatitis-like illness, with jaundice, hepatosplenomegaly, high alanine aminotransferase activity (ALT) and high gamma-globulin values. We were able to demonstrate high titre of anti-liver-kidney microsome antibodies type 1 (LKMA1) in the serum of this patient using immunofluorescence, ELISA (Enzyme-linked immunoabsorbent assay) and Western blot (WB) analysis. This observation together with the liver morphology and after excluding other possible causes of hepatitis established the diagnosis of chronic active hepatitis associated with anti-LKM1 antibody. Immunosuppressive therapy was therefore started immediately.

[Roles, functions and myths in the family group of the psychotic patient]. / Roles, funciones y mitos en el grupo familiar del psicótico.

With the study of two families in treatment we can see the roles that each one gets, and the functions that the psychotic assumes. Because the family has a particular story, a lot of myths appear and the interpretation is the hermeneutic method which serves to explain them. This fact is very important because some of those myths show the pathologic unconscious of the family. Through the myths, the family expresses the values, the credences, the familiar ideology and the ideals, which generally are neither possible, real nor concrete. To consider the clinic material, we start from the description of a pathological family and we continue with the theoretical approximation of Pichon Riviére: the antipsychiatry, the structuralism and the theories about the communication of Palo Alto. Then, we arrive at universal situations about the roles in the psychotic's family: fixation and immobility, stereotypy and aupplementarity, double vinculum situation, the family gives up modifying the structure and the patient who assumes the family pathology is almost permanently disqualified. There is a downfall in the identity of the psychotic mainly because the father's function is perverted (in both families, the father appears as "powerful" and considered in society, but disqualified in the family).

Roles, funciones y mitos en el grupo familiar del psicótico. / [Roles, functions and myths in the family group of the psychotic patient]

With the study of two families in treatment we can see the roles that each one gets, and the functions that the psychotic assumes. Because the family has a particular story, a lot of myths appear and the interpretation is the hermeneutic method which serves to explain them. This fact is very important because some of those myths show the pathologic unconscious of the family. Through the myths, the family expresses the values, the credences, the familiar ideology and the ideals, which generally are neither possible, real nor concrete. To consider the clinic material, we start from the description of a pathological family and we continue with the theoretical approximation of Pichon Riviére: the antipsychiatry, the structuralism and the theories about the communication of Palo Alto. Then, we arrive at universal situations about the roles in the psychotics family: fixation and immobility, stereotypy and aupplementarity, double vinculum situation, the family gives up modifying the structure and the patient who assumes the family pathology is almost permanently disqualified. There is a downfall in the identity of the psychotic mainly because the fathers function is perverted (in both families, the father appears as [quot ]powerful[quot ] and considered in society, but disqualified in the family).