Molecular overview of progressive familial intrahepatic cholestasis.

Cholestasis is a clinical condition resulting from the imapairment of bile flow. This condition could be caused by defects of the hepatocytes, which are responsible for the complex process of bile formation and secretion, and/or caused by defects in the secretory machinery of cholangiocytes. Several mutations and pathways that lead to cholestasis have been described. Progressive familial intrahepatic cholestasis (PFIC) is a group of rare diseases caused by autosomal recessive mutations in the genes that encode proteins expressed mainly in the apical membrane of the hepatocytes. PFIC 1, also known as Byler's disease, is caused by mutations of the ATP8B1 gene, which encodes the familial intrahepatic cholestasis 1 protein. PFIC 2 is characterized by the downregulation or absence of functional bile salt export pump (BSEP) expression via variations in the ABCB11 gene. Mutations of the ABCB4 gene result in lower expression of the multidrug resistance class 3 glycoprotein, leading to the third type of PFIC. Newer variations of this disease have been described. Loss of function of the tight junction protein 2 protein results in PFIC 4, while mutations of the NR1H4 gene, which encodes farnesoid X receptor, an important transcription factor for bile formation, cause PFIC 5. A recently described type of PFIC is associated with a mutation in the MYO5B gene, important for the trafficking of BSEP and hepatocyte membrane polarization. In this review, we provide a brief overview of the molecular mechanisms and clinical features associated with each type of PFIC based on peer reviewed journals published between 1993 and 2020.

Facets of identity disturbance reported by patients with borderline personality disorder and personality-disordered comparison subjects over 20 years of prospective follow-up.

This study had two objectives. The first was to determine the levels of identity disturbance reported by 290 patients with borderline personality disorder (BPD) and 72 personality-disordered comparison subjects over 20 years of prospective follow-up. The second aim was to describe the levels of identity disturbance reported by 152 ever recovered vs. 138 never recovered borderline patients over 20 years of prospective follow-up. Participants were followed and re-assessed every two years for a total of 20 years of follow-up. Borderline patients reported levels of these states that were more than three times higher than personality-disordered comparison subjects, with both groups demonstrating significant declines in these states over time. For three of these inner states ("I feel like I am worthless," "I feel like a complete failure," and "I feel like I am evil"), recovered borderline patients had lower baseline scores and significantly different patterns of decline than non-recovered patients. For the fourth state, "I feel like I am a bad person," recovered patients had lower scores over time, but the groups declined at the same rate. These results suggest that borderline patients report experiencing inner states related to having a negative identity less often over time. Additionally, recovery status is significantly associated with decreased time experiencing these states.

Multifocal electroretinography and optical coherence tomography changes after repeated intravitreal bevacizumab (Avastin) in myopic choroidal neovascularization.

PURPOSE: The purpose of this study was to evaluate the short-term efficacy and safety of repeated intravitreal bevacizumab for myopic choroidal neovascularization. METHODS: We performed a prospective, nonrandomized, interventional case series study. Sixteen eyes from 16 patients with myopic choroidal neovascularization secondary to pathologic myopia had a monthly injection of intravitreal bevacizumab 1.25 mg for 3 consecutive months. Best-corrected visual acuity assessment, optical coherence tomography, fluorescein angiography and multifocal electroretinogram were performed before treatment and at 1, 2, 3, and 6 months. RESULTS: The mean logarithm of minimum angle of resolution best-corrected visual acuity was 1.43 before treatment. At 6 months after treatment, the mean best-corrected visual acuity improved significantly (P = 0.02) to 0.7. Fluorescein angiography demonstrated absence of leakage in 14 eyes (87.5%) and persistent but decreased leakage in the remaining 2 eyes (12.5%). Optical coherence tomography showed a highly significant reduction in the foveal central thickness (P < 0.001) at all follow-up visits. The foveal and parafoveal rings showed a significant improvement in the multifocal electroretinogram responses. At the sixth month follow-up, the P1 amplitudes and implicit time P values in the foveal and parafoveal rings were <0.01 and <0.001, respectively. None of the remaining three rings showed any significant change throughout the study period. CONCLUSION: In 6-month follow-up, repeated injections of intravitreal bevacizumab were effective in treating myopic choroidal neovascularization. No adverse effect was detected on retinal function evaluated by multifocal electroretinogram.

Open preperitoneal versus anterior approach for recurrent inguinal hernia: a randomized study.

BACKGROUND: Inguinal herniorrhaphy remains one of the most common general surgical operations, with approximately 15% performed for recurrence. The repair of the resulting recurrent hernia is a daunting task because of already weakened tissues and obscured and distorted anatomy. The aim of this study is to compare the posterior preperitoneal versus anterior tension-free approach for repair of unilateral recurrent inguinal hernia regarding complications and early recurrence. METHODS: 120 Patients in this study were divided randomly into 2 main groups; Group A patients were subjected to posterior preperitoneal approach and those of group B were subjected to conventional anterior tension-free repair. The primary end point was recurrence and the secondary end points were time off from work, postoperative pain, scrotal swelling and wound infections. RESULTS: The mean hospital stay was 1.2 days and 4.7, the mean time to return work was 8.2 and 11.2 days and the mean time off from work was 9.4 and 15.9 days in group A and B respectively. The maximum follow-up period was 48 months and the minimum was 14 months with a mean value as 37.11 ± 5.14 months. Only 2 recurrences (3.3%) in group A and 4 cases (6.25%) in group B were seen. The final pain score per patient and the overall complication rate were higher in group B. CONCLUSIONS: The open preperitoneal repair offers the advantages of low recurrence rate and allows covering all potential defects with one piece of mesh and is far superior to the anterior approach. TRIAL REGISTRATION: ACTRN12611000337976.

Incidence, patterns, and factors predicting mortality of abdominal injuries in trauma patients.

BACKGROUND: Abdominal trauma is a major public health problem for all nations and all socioeconomic strata. AIM: This study was designed to determine the incidence and patterns of abdominal injuries in trauma patients. MATERIALS AND METHODS: We classified and identified the incidence and subtype of abdominal injuries and associated trauma, and identified variables related to morbidity and mortality. RESULTS: Abdominal trauma was present in 248 of 300 cases; 172 patients with blunt abdominal trauma and 76 with penetrating. The most frequent type of abdominal trauma was blunt trauma; its most common cause was motor vehicle accident. Among patients with penetrating abdominal trauma, the most common cause was stabbing. Most abdominal trauma patients presented with other injuries, especially patients with blunt abdominal trauma. Mortality was higher among penetrating abdominal trauma patients. CONCLUSIONS: Type of abdominal trauma, associated injuries, and Revised Trauma Score are independent risk factors for mortality in abdominal trauma patients.

Perforated duodenal ulcer in high risk patients: is percutaneous drainage justified?

BACKGROUND: Conservative treatment was recommended as the treatment of choice in perforated acute peptic ulcer. Here, we adjunct percutaneous peritoneal drainage with nonoperative conservative treatment in high risk elderly patients with perforated duodenal ulcer. AIM: The work was to study the efficacy of percutaneous peritoneal drainage under local anesthesia supported by conservative measures in high risk elderly patients, according to the American Society of Anesthesiologists grading, with perforated duodenal ulcer. PATIENTS AND METHODS: Twenty four high risk patients with age >65 years having associated medical illness with evidence of perforated duodenal ulcer. RESULTS: The overall morbidity and mortality were comparable with those treated by conservative measures alone. CONCLUSION: In high risk patients with perforated peptic ulcer and established peritonitis, percutaneous peritoneal drainage under local anesthesia seems to be effective with least operative trauma and mortality rate.