Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment.

Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive cholestatic liver diseases which are subgrouped according to the genetic defect, clinical presentation, laboratory findings and liver histology. Progressive liver fibrosis, cirrhosis, and end stage liver disease (ESLD) may eventually develop. PFIC was first described in Amish descendants of Jacob Byler, therefore it was originally called Byler disease. But it can be seen anywhere on the globe. This review summarizes the main features of the subtypes of the disease and discusses the current available diagnosis, conservative and surgical therapeutic options.

Laparoscopic repair in children with traumatic bladder perforation.

Here, we report two patients with a traumatic intraperitoneal bladder dome rupture repaired by laparoscopic intracorporeal sutures. The first patient was a 3-year old boy was admitted with a history of road accident. He had a traumatic lesion on his lower abdomen and a pelvic fracture. Computed tomography (CT) scan revealed free intraabdominal fluid. The urethragram showed spreading contrast material into the abdominal cavity. Laparoscopic exploration revealed a 3-cm-length perforation at the top of the bladder. The injury was repaired in a two fold fashion. Post-operative follow-up was uneventful. The second case was a 3-year-old boy fell from the second floor of his house on the ground. He had traumatic lesion on his lower abdomen and a pelvic fracture. Due to bloody urine drainage, a cystography was performed and an extravasation from the dome of the bladder into the peritoneum was detected. On laparoscopy, a 3-cm long vertical perforation at the dome of the bladder was found. The perforation was repaired in two layers with intracorporeal suture technique. The post-operative course was uneventful. Laparoscopic repair of traumatic perforation of the bladder dome is a safe, effective and minimally invasive method. The cosmetic outcome is superior.

Single port laparoscopic and open surgical accesses of chronic peritoneal dialysis in children: A single center experience over 12 years.

INTRODUCTION: The aim of this study was to evaluate patients with end stage renal failure (ESRD) who underwent chronic peritoneal dialysis (CPD). The clinical outcomes of laparoscopic and open placements of catheters were compared. MATERIALS AND METHODS: We reviewed 49 (18 male and 31 female) children with CPD according to age, sex, cause of ESRD, catheter insertion method, kt/V rate, complications, presence of peritonitis, catheter survival rate between January 2002 and February 2014. RESULTS: Thirty-three patients were with open placement and 16 patients were with laparoscopic placement. The rate of the peritonitis is significantly less in patients with laparoscopic access than open access (n = 4 vs n = 25) (P <0.01). Patients with peritonitis were younger than those who had no attack of peritonitis (10.95 ± 0.8 years vs 13.4 ± 0.85 years). According to the development of complications, significant difference has not been found between the open (n = 9) and laparoscopic (n = 3) approaches except the peritonitis. Catheter survival rate for the first year was 95%, and for five years was 87.5%. There was no difference between open and laparoscopic group according to catheter survival rate. The mean kt/V which indicates the effectiveness of peritoneal dialysis was mean 2.26 ± 0.08. No difference was found between laparoscopic and open methods according to kt/V. CONCLUSION: Laparoscopic placement of CPD results in lower peritonitis rate. Catheter survival rate was excellent in both groups. Single port laparoscopic access for CPD catheter insertion is an effective and safe method.

Different techniques for biliary diversion in progressive familial intrahepatic cholestasis.

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a cholestatic liver disease of childhood. Pruritus resulting from increased bile salts in serum might not respond to medical treatment, and internal or external biliary drainage methods have been described. In this study, we aimed to evaluate different internal drainage techniques in patients with PFIC. PATIENTS AND METHODS: Between 2009 and 2014, seven children (4 male, 3 female, 3months-5years old), (median 2years of age) with PFIC were evaluated. The patients were reviewed according to age, gender, complaints, surgical technique, laboratory findings and outcome. In each two patients, cholecystoileocolonic anastomosis, cholecystojejunocolonic anastomosis and cholecystocolostomy were performed. Cholecysto-appendico-colonic anastomosis was the technique used in one patient. RESULTS: Jaundice and excessive pruritus were the main complaints. One of the patients with cholecystoileocolonic anastomosis died of comorbid pathologies (cirrhosis, adhesive obstruction and severe sepsis). Temporary rectal bleeding was observed in all the patients postoperatively. Regardless of the surgical technique, pruritus was dramatically decreased in all the patients in the postoperative period. CONCLUSION: Regardless of the technique, internal biliary diversion methods are beneficial for the relief of pruritus in PFIC patients. Selection of the surgical method might vary depending on the surgeon's preference and the surgical anatomy of the gastrointestinal system of the patient.

Effects of leflunomide on inflamation and fibrosis in bleomycine induced pulmonary fibrosis in wistar albino rats.

PURPOSES: Pulmonary fibrosis is a rare and progressive lung disease with a high mortality rate. The treatment regimens still fail to recover the disease. Leflunomide (LEF) is an immunomodulatory agent with antiproliferative activity that is used for the treatment of rheumatoid arthritis. The purpose of the study is to investigate the potential therapeutic efficacy of LEF in bleomycin (BLM) induced pulmonary fibrosis. METHODS: A total of 21 male, adult wistar albino rats were used. The animals were divided into three groups as control, BLM and BLM plus LEF groups (n=7). In BLM group, mice were treated with intratracheal instillation of BLM (2.5 U/kg). Control group received the same volume of saline instead of BLM. In LEF group, in addition to BLM, LEF (10 mg/kg, daily) was administrated by oral gavage. The effect of LEF on pulmonary inflammation and fibrosis was studied by measurements of serum clara cell protein-16 (CC-16), thiobarbituric acid reactive substance levels (TBARS), superoxide dismutase (SOD) and advanced oxidation protein products (AOPP) levels and lung tissue contents of IL-6, TNF-α and NF-κB by immunhistochemical examinations. RESULTS: LEF significantly increased the level of CC-16 and decreased the level of AOPP (P=0.042 and P=0.003 respectively). Lung tissue contents of IL-6, TNF-α and NF-κB significantly decreased in LEF group compared to BLM group by immunhistochemical examinations (P<0.001). CONCLUSIONS: LEF reduces oxidative stress factors, alveolar inflammation and attenuates lung injury and fibrosis.

Iatrogenic tracheal rupture in a child: case study and review of literature.

Tracheal rupture is rare in childhood, and optimal treatment is not clear. A 14-year-old boy was admitted to a local hospital after sudden loss of consciousness. He underwent endotracheal intubation and was referred to our hospital. The patient's history revealed that he had voluntarily inhaled butane gas. The physical examination was consistent with coma and cardiogenic shock, and the chest radiograph showed pulmonary edema. The patient was admitted to the intensive care unit, and diuretic and inotropic therapy was started. In the third hour of monitoring of the patient under mechanical ventilation, subcutaneous emphysema and pneumothorax at the right hemithorax were observed without deterioration of the vital functions. Thoracic computed tomography scan findings were consistent with tracheal rupture. The patient was monitored conservatively without surgery. On the fifth day of hospitalization, his tube was removed, and he was discharged on the 12th day with a positive prognosis. In this study, a tracheal rupture case after endotracheal intubation is presented in which the patient recovered completely with conservative therapy.

The effect of curcumin on lung injuries in a rat model induced by aspirating gastrointestinal decontamination agents.

BACKGROUND: Aspiration is one of the most feared complications of gastrointestinal decontamination procedures with nonabsorbed polyethylene glycol (PEG) solution and activated charcoal (AC). We aimed to investigate the protective effects of curcumin (CUR) on lung injury in rats induced by aspiration of these agents. METHODS: Experimental rats were divided randomly into 6 groups (n = 7): a saline-aspirated control (group I), sterile saline aspirated with CUR treatment (group II), PEG aspirated (group III), PEG aspirated with CUR treatment (group IV), AC aspirated (group V), and AC aspirated with CUR treatment (group VI). After aspiration, treatment groups II, IV, and VI were given 150 mg/kg CUR intraperitoneally once a day for 7 days. After 7 days, the rats were humanely killed, and both the lungs and serum specimens from all groups were evaluated histopathologically, immunohistochemically, and biochemically. RESULTS: Aspiration of gastrointestinal decontamination agents produced histopathologic changes, elevated levels of malondialdehyde and surfactant protein D, reduced levels of antioxidant enzymes, and increased expression of inflammatory cytokines interleukin-1ß and tumor necrosis factor α. Curcumin treatments effectively attenuated the rats' pulmonary inflammation responses (as shown by reduced alveolar damage), decreased serum malondialdehyde and surfactant protein D levels, and inhibited the expressions of tumor necrosis factor α and interleukin-1ß. CONCLUSIONS: Because of its anti-inflammatory effects, CUR treatment may have preventive effects on lung injuries induced by aspirating gastrointestinal decontamination agents.

Temporary peritoneal dialysis in newborns and children: a single-center experience over five years.

AIM: To evaluate the indications, complications, and outcomes of temporary peritoneal dialysis (TPD) in children with acute renal failure (ARF). PATIENTS AND METHODS: All patients undergoing TPD between February 2006 and January 2011 in a children's hospital were included in the study. Patient characteristics, indications, complications, and duration of TPD (DPD), requirement of re-operation, length of stay, presence of sepsis, and outcome were recorded. RESULTS: There were 21 newborns (14 prematures), 9 infants, and 9 children. The main nephrotoxic agents were gentamicin (n = 7), netilmisin (n = 5), vancomycin (n = 3), and ibuprophen (n = 3). Patients with multiorgan failure (n = 9) had significantly higher blood urea nitrogen (BUN) and creatinine levels than those without multiorgan failure (n = 30) [BUN: 94 ± 27.3 vs. 34.3 ± 4.9) and creatinine: 4.1 ± 0.8 vs. 1.9 ± 0.2)]. The mean DPD was longer in mature patients than in prematures (newborn: 3.7; children: 7.1). Nine complications were observed (23%) (leakage in three and poor drainage in six patients). Twenty-five patients (64.1%) responded to TPD treatment and were discharged, and 14 patients (10 newborns and 7 of them were premature) died (35.9%). Mortality rate was higher in prematures (n = 7) and patients with a history of nephrotoxic agent (n = 10). CONCLUSION: TPD is effective especially in neonates with ARF and it is a reliable alternative to the hemodialysis or other continuous renal replacement therapies but it is not free of complications. It has limited effects, particularly in patients with multiorgan failure.

Gastrointestinal stromal tumor: a very rare cause of jejunoileal intussusception in a 6-year-old girl.

A 6-year-old girl was admitted to the emergency department with abdominal pain and bilious vomiting of 3 days in duration. Abdominal ultrasound examination showed an 8-cm-long intussuscepted intestinal segment with a target sign. There was a 26 × 28 × 23 mm nonperistaltic anechoic cystic mass suggestive of a duplication cyst. At laparotomy, the ileocecal region was normal with many enlarged lymph nodes from which biopsies were taken. There was a 20-cm-long intussuscepted segment at the proximal ileum close to the jejunum. After manual reduction, a 2-cm-long edematous segment resembling a duplication cyst served as the lead point. The segment was excised, and a primary bowel anastomosis was performed. She was discharged on the fifth postoperative day. The histopathologic examination revealed that the excised segment contained a gastrointestinal stromal tumor measuring 2.5 cm, with a mitotic rate of 2 to 3 mitoses per 50 high-power fields (low-risk group) showing an infiltrative growth pattern. On immunohistochemistry assay, some of the tumor cells were CD117 and CD34 positive, whereas all of them were smooth muscle actin and S-100 positive but CD10 negative. Staining index with Ki-67 was 5%. Surgical margins were free of tumor. The lymph nodes showed reactive hyperplasia. She was referred to the pediatric oncology department for further evaluation. Gastrointestinal stromal tumors are common in adults and may lead to intussusception. To the best of our knowledge, this is the first childhood case of gastrointestinal stromal tumor causing jejunoileal intussusception in the literature.

The role of iNOS inhibitors on lung injury induced by gastrointestinal decontamination agents aspiration.

Aspiration is a devastating complication during decontamination procedure in poisoning patients. We have investigated whether S-methylisothiourea protects different pulmonary aspiration gastrointestinal decontamination agent-induced lung injury in rats. Forty-two male Sprague-Dawley rats were assigned to one of six groups (n = 7): normal saline, activated charcoal, polyethylene glycol, normal saline + S-methylisothiourea treated activated charcoal + S-methylisothiourea treated and polyethylene glycol + S-methylisothiourea treated. Normal saline, activated aharcoal and polyethylene glycol were instilled into the lungs. The rats received S-methylisothiourea i.p twice daily for 7 days. Serum surfactant protein D, oxidative stress products and inducible nitric oxide synthase expression in the lung were investigated. The aspiration of activated charcoal significantly increased all histopathological scores (P < 0.01). Only peribronchial inflammatory cell infiltration, alveolar edema, and alveolar histiocytes were increased in the polyethylene glycol groups as compared to the normal saline group (P < 0.05). Pulmonary aspiration increased serum malondialdehyde (P < 0.001), and surfactant protein D (P < 0.05) levels and decreased serum superoxide dismutase levels (P < 0.05). S-methylisothiourea treatment decreased all histopathological scores in the activated charcoal treated S-methylisothiourea group (P < 0.01) and only decreased alveolar edema and alveolar histiocytes in the polyethylene glycol-treated S-methylisothiourea group (P < 0.05). S-methylisothiourea treatment reduced elevated oxidative factors, inducible nitric oxide synthase activity and serum surfactant protein D levels. Our findings showed that S-methylisothiourea may be a protective drug against Activated Charcoal and Polyethylene Glycol-induced lung injury.

Infliximab attenuates activated charcoal and polyethylene glycol aspiration-induced lung injury in rats.

Aspiration is a serious complication of gastrointestinal (GI) decontamination procedure. Studies have shown that tumor necrosis factor-α (TNF-α) blockers have beneficial effects on lung injury. Therefore, the authors investigated the attenuation by infliximab (INF) on activated charcoal (AC)- and polyethylene glycol (PEG)-induced lung injury in rat model. Forty-two male Sprague-Dawley rats were allotted into 1 of 6 groups: saline (NS), activated charcoal (AC), polyethylene glycol (PEG), NS+INF treated, AC+INF treated, and PEG+INF treated. All materials were aspirated into the lungs at a volume of 1 mL/kg. Before aspiration, the rats were injected subcutaneously with INF. Seven days later, both lungs and serum specimens in all groups were evaluated histopathologically, immunohistochemically, and biochemically. Following aspiration of AC and PEG, evident histopathological changes were assigned in the lung tissue that were associated with increased expression of inducible nitric oxide synthase (iNOS), increased serum levels of oxidative stress markers (malondialdehyde [MDA], surfactant protein-D [SP-D], TNF-α), and decreased antioxidant enzyme (glutathione peroxidase [GSH-Px]) activities. INF treatment significantly decreased the elevated serum MDA and TNF-α levels and increased serum GSH-Px levels. Furthermore, the current results show that there is a significant reduction in the activity of iNOS in lung tissue and increased serum SP-D levels of AC and PEG aspiration-induced lung injury with INF treatment. These findings suggest that INF attenuates lung inflammation and prevents GI decontamination agent-induced lung injury in rats.

Gastric serosal tear due to congenital pyloric atresia: a rare anomaly, a rare complication.

Congenital pyloric atresia (CPA) is a very rare malformation with unknown aetiology. It has has numerous complications including gastric perforation, aspiration pneumonia. Gastric perforations in newborns occur by three mechanisms: trauma, ischaemia, or spontaneous. Here, we report a newborn with CPA presenting with gastric serosal tearing without full-cut gastric perforation. The diagnosis was confirmed with the help of plain abdominal radiograph, ultrasound, contrast-study, and at operation. Treatment of CPA is surgery irrespective of the type of atresia. We performed serosa repair and then the solid, cord-like atretic pylorus was excised with accompanying gastroduodenostomy. Our patient had an uneventful course and was discharged at the end of the second postoperative week.

Two cases of fetus in fetu.

Fetus in fetu (FIF) is a rare cause of abdominal mass in children. One of the malformed monozygotic diamniotic twins is located in the body of other twin. It is differentiated from teratoma by the presence of vertebral organization with limb buds and other organ systems. Diagnosis is based on radiologic findings. Surgical excision is the treatment of choice, leading to the complete removal of the mass. To our knowledge, less than 200 cases have been described in the literature. Herein, we report 2 cases of FIF, a newborn who was diagnosed antenatally and a three-and-half-year- old boy diagnosed with mediastinal FIF after admission for recurrent respiratory tract infections.