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.
BackgroundInguinal 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.Methods120 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.ResultsThe 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.ConclusionsThe 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 RegistrationACTRN12611000337976
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.
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.
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 reassessed 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.
Purpose:To present our experience in the management of symptomatic ureteral calculi during pregnancy.Materials and Methods:Twenty-three pregnant women, aged between 19 and 28 years presented to the obstetric and urology departments with renal colic (17 cases, 73.9%) and fever and renal pain (6 cases, 26.1%); suggesting ureteric stones. The diagnosis was established by ultrasonography (abdominal and transvaginal). Outpatient follow-up consisted of clinical assessment and abdominal ultrasonography. Follow-up by X-ray of the kidneys, ureter, and bladder (KUB), or intravenous urography (IVU) was done in the postpartum period.Results:Double J (DJ) stent was inserted in six women (26%) with persistent fever followed by extracorporeal shock wave lithotripsy (ESWL) one month post-partum. Ureteroscopic procedure and pneumatic lithotripsy were performed for 17 women (distal ureteric stone in 10, middle ureter in 5, and upper ureteric stone in 2). Stone-free rate was 100%. No urologic, anesthetic, or obstetric complications were encountered.Conclusions:Ureteroscopy, pneumatic lithotripsy, and DJ insertion could be a definitive and safe option for the treatment of obstructive ureteric stones during pregnancy.
Zusammenfassung. Grundlagen: Die Entfernung der gesamten Schilddrü se ist in der Therapie bei gutartigen und bösartigen Erkrankungen der Schilddrü se etabliert, ist aber potentiell mit erhöhten postoperativen Komplikationen assoziiert. Es geht vor allem um die Schonung der Nervus laryngeus recurrens und der Nebenschilddrü sen. Die Autoren ü berlegten, ob die Lupenvergrößerung dazu beitragen kann, die angefü hrten Komplikationen zu vermeiden.Methodik: Die totale Thyreoidektomie wurde mit (Gruppe A) und ohne (Gruppe B) Lupenvergrößerung durchgefü hrt. Stimmbandfunktion und Kalziumspiegel wurden postoperativ untersucht.Ergebnisse: Die Lupenvergrößerung verbessert die Identifizierung und Schonung des Nervus laryngeus recurrens und der Nebenschilddrü sen.Schlussfolgerungen: Lupenvergrößerung bei Entfernung der gesamten Schilddrü se ist machbar, verbessert das Ergebnis und sollte von erfahrenen Chirurgen durchgefü hrt werden.Schlüsselwörter: Schilddrüsenresektion, Lupenvergröße-rung.Summary. Background: Total thyroidectomy has been accepted as current surgical therapy for benign and malignant thyroidal disorders but extensive resection might increase the risk of postoperative complications. Intensive effort should be spent to prevent recurrent laryngeal nerve injury and hypoparathyroidism, because they can be avoided with appropriate surgical technique during total thyroidectomy. The authors proposed that the use of a loupe for operative field magnification could improve the outcome of total thyroidectomy as regard to identification of both the recurrent laryngeal nerves and the parathyroids.Methods: Patients were subjected to total thyroidectomy with loupe magnification in group A and without loupe in group B. The status of vocal cords of all patients was checked postoperatively by laryngoscope. Serum calcium concentration immediately postoperatively and during follow-up was checked.Results: Loupe magnification helps identification of external branch of superior laryngeal nerve and parathyroid preservation.Conclusions: Total thyroidectomy by loupe magnification is feasible, improves the outcome, and should be done by experienced surgeon.
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.
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