Significance Polycystic liver disease (PCLD) is an autosomal dominantly inherited disorder characterized by multiple fluid-filled hepatic cysts that may cause an extremely enlarged liver. PCLD is genetically heterogeneous, and mutations in PRKCSH and SEC63 are present in ∼25% of PCLD patients. This research identifies four unique LRP5 mutations in four independent families that were all located at highly conserved protein domains. Functional activity analyses suggest that mutant LRP5 reduces wingless (Wnt) signal activation. This study suggests that imbalanced Wnt signaling is related to hepatic cyst formation.

BackgroundPatients' satisfaction is an important indicator for quality of care. Measuring healthcare quality and improving patient satisfaction have become increasingly prevalent, especially among healthcare providers and purchasers of healthcare. This is mainly due to the fact that consumers are becoming increasingly more knowledgeable about healthcare. No studies of inpatients' satisfaction with hospital care have been conducted in Morocco. The first objective of the present study was to confirm the reliability and validity of the Arabic version of the EQS-H (Echelle de Qualité des Soins en Hospitalisation). The second objective was to evaluate patient satisfaction in an acute medicine department in Morocco by using the EQS-H questionnaire; and also to assess the influence of certain demographics, socioeconomics, and health characteristics in patient satisfaction.Methodsit was a patient survey conducted in an acute medicine department of a Moroccan University Hospital. We surveyed their socio demographic status, and health characteristics at admission. We performed structured face to face interviews with patients who were discharged from hospital. The core of the EQS-H questionnaire was translated to Arabic, adapted to the present setting, and then used to measure patient satisfaction with quality of care. The internal consistency of the EQS-H scale was assessed by Chronbach's coefficient alpha. Validity was assessed by factor analysis. Factors influencing inpatients' satisfaction were identified using multiple linear regression.ResultsThe Arabic version of EQS-H demonstrated an excellent internal consistency for the two dimensions studied (0.889 for 'quality of medical information' (MI) and 0.906 for 'Relationship with staff and daily routine' (RS)). The principal component analysis confirmed the bidimensional structure of the questionnaire and explained 60% of the total variance. In the univariate analysis, urban residence, higher income, better perceived health status compared to admission, better perceived health status compared to people of the same age, and satisfaction with life in general were related to MI dimension; Otherwise, mal gender, urban residence, higher income, staying in double room, better perceived health status compared to admission, and satisfaction with life in general were related to RS dimension. The multiple linear regression showed that four independent variables were associated with higher satisfaction in MI: More than 2 prior hospitalizations, a longer length of stay (10-14 days) (P = 0.002), staying in double room (P = 0.022), and better perceived health status compared to admission (P = 0.036). Three independent variables were associated with higher satisfaction in RS: a longer length of stay (10-14 days) (P = 0.017), better perceived health status compared to admission day (P = 0.013), and satisfaction with life in general (P = 0.006).ConclusionsOur current data assessing patient satisfaction with acute health care by the Arabic version of the EQS-H showed that the satisfaction...

Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset of ADPKD probands do not harbor a mutation in any of the known genes. Low density lipoprotein Receptor-related Protein 5 (LRP5) was recently associated with hepatic cystogenesis in isolated polycystic liver disease (PCLD). Here, we demonstrate that this gene may also have a role in unlinked and sporadic ADPKD patients. In a cohort of 79 unrelated patients with adult-onset ADPKD, we identified a total of four different LRP5 variants that were predicted to be pathogenic by in silico tools. One ADPKD patient has a positive family history for ADPKD and variant LRP5 c.1680G4T; p.(Trp560Cys) segregated with the disease. Although also two PKD1 variants probably affecting protein function were identified, luciferase activity assays presented for three LRP5 variants significant decreased signal activation of canonical Wnt signaling. This study contributes to the genetic spectrum of ADPKD. Introduction of the canonical Wnt signaling pathway provides new avenues for the study of the pathophysiology.

Bezoars are concretions of undigested material in the gastrointestinal tract, most commonly in the stomach. Duodenojejunal localization of bezoars is exceptional. We report a case of a 27-year-old woman who experienced nausea, vomiting and severe abdominal pain for one week. By palpation a mobile and sensitive mass, 15 × 15 cm, was detected, which filled the upper quadrant. Results of gastric endoscopy were normal. X-ray and ultrasonography suggested a bezoar. A laparotomy revealed that the jejunum was fissured by the trichobezoar ball. This trichobezoar mass was totally excised by intestinal resection.Conclusion:To our knowledge, this is the first reported case of duodenojejunal fissuration caused by trichobezoar in an adult. Among patients with high subocclusif syndrome, duodenojejunal bezoar should remain a possibility in differential diagnosis.

Iatrogenic right diaphragmatic hernia is very rare. We report the first case of a patient who had a diaphragmatic hernia after laparoscopic fenestration of liver cyst. A herniorrhaphy of the diaphragmatic defect was carried out after reducing the herniated organ. The postoperative course was uneventful. Diaphragmatic hernias are not as common as the traumatic type. Surgeons can easily miss diaphragmatic injuries during the operation especially after laparoscopy. Late diagnosis of iatrogenic diaphragmatic hernias is frequent. Ct scan is helpful for diagnosis. Surgery is the treatment of diaphragmatic hernia at the time of diagnosis, even with asymptomatic patients. The incidence of iatrogenic diaphragmatic hernia after surgery may be reduced if the surgeon checks for the integrity of the diaphragm before the end of the operation. A review of the literature is also performed regarding this rare complication.