Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations / 대한소아소화기영양학회지

Purpose@#The gastrointestinal system is the most commonly affected organ, followed by the lungs, in patients with primary immunodeficiency disease (PID). Hence, it is common for children with PIDs to present with gastrointestinal symptoms. We aimed to analyze the clinical and histopathological findings of patients who were initially admitted to pediatric gastroenterology/hepatology clinics and subsequently diagnosed with PIDs to identify the clinical clues for PIDs. @*Methods@#The demographic, laboratory, and histopathological findings, treatment modality, and outcomes of patients initially admitted to the pediatric gastroenterology/hepatology unit and subsequently diagnosed with PIDs were recorded. @*Results@#The study included 24 patients (58.3% male; median age [range]: 29 [0.5–204] months). Common clinical presentations included chronic diarrhea (n=8), colitis (n=6), acute hepatitis (n=4), and acute liver failure (n=2). The association of autoimmune diseases, development of malignant diseases, and severe progression of viral diseases was observed in 20.8%, 8.3%, and 16.6% of the patients, respectively. Antibody deficiency was predominantly diagnosed in 29.2% of patients, combined immunodeficiency in 20.8%, immune dysregulation in 12.5%, defects in intrinsic and innate immunity in 4.2%, autoinflammatory disorders in 8.3%, and congenital defects of phagocytes in 4.2%. Five patients remained unclassified (20.8%). @*Conclusion@#Patients with PIDs may initially experience gastrointestinal or liver problems. It is recommended that the association of autoimmune or malignant diseases or severe progression of viral diseases provide pediatric gastroenterologists some suspicion of PIDs. After screening using basic laboratory tests, genetic analysis is mandatory for a definitive diagnosis.

SARS-CoV-2 Antibodies in Children with Chronic Disease from a Pediatric Gastroenterology Outpatient Clinic / 대한소아소화기영양학회지

Purpose@#At the beginning of the Coronavirus disease (COVID-19) epidemic, physicians paid close attention to children with chronic diseases to prevent transmission or a severe course of infection. We aimed to measure the severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) antibody levels in children with chronic gastrointestinal and liver diseases to analyze the risk factors for infection and its interaction with their primary disease. @*Methods@#This cross-sectional study analyzed SARS-CoV-2 antibody levels in patients with gastrointestinal and liver diseases (n=141) and in healthy children (n=48) between January and February 2021. @*Results@#During the pandemic, 10 patients (7%) and 1 child (2%) had confirmed COVID-19 infection (p=0.2). The SARS-CoV-2 antibody test was positive in 36 patients (25.5%) and 11 children (22.9%) (p=0.7). SARS-CoV-2 antibody positivity was found in 20.4%, 26.6%, 33.3%, and 33.3% of patients with chronic liver diseases, chronic gastrointestinal tract diseases, cystic fibrosis, and liver transplantation recipients, respectively (p>0.05, patients vs. healthy children). Risk factors for SARS-CoV-2 antibody positivity were COVID-19-related symptoms (47.2% vs. 14.2%, p=0.00004) and close contact with SARS-CoV-2 polymerase chain reaction-positive patients (69.4% vs. 9%, p<0.00001). The use, number, and type of immunosuppressants and primary diagnosis were not associated with SARS-CoV-2 antibody positivity. The frequency of disease activation/flare was not significant in patients with (8.3%) or without (14.2%) antibody positivity (p=0.35). @*Conclusion@#SARS-CoV-2 antibodies in children with chronic gastrointestinal and liver diseases are similar to that in healthy children. Close follow-up is important to understand the long-term effects of past COVID-19 infection in these children.

Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study / 대한소아소화기영양학회지

PURPOSE: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD.METHODS: This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25).RESULTS: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%) had heterozygous genotype. Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6±7.7 mg/dL vs. 66.5±22.7 mg/dL, p=0.0001). Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13±6.8 months vs. 23.7±30.1 months, p=0.192). Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic. Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic. Overall, 18 (72%) of the 25 children had liver pathology in the long-term.CONCLUSION: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels. Moreover, long-term follow-up is essential because most patients have a liver pathology.

Neurocognitive Functions in Infants with Malnutrition; Relation with Long-chain Polyunsaturated Fatty Acids, Micronutrients Levels and Magnetic Resonance Spectroscopy / 대한소아소화기영양학회지

PURPOSE: Malnutrition may influence neurocognitive development in children by directly affecting the brain structural development, or indirectly by affecting the children's cognition experience. Malnutrition alters the cell numbers, cell migration, synaptogenesis, and neurotransmission due to inadequate availability of necessary micronutrients to support cell growth. We aimed to analyze neurocognitive development in infants with malnutrition and its association with long chain polyunsaturated fatty acids (LC-PUFA), micronutrients levels and magnetic resonance spectroscopy (MRS) findings. METHODS: The study included two groups; group 1, infants with malnutrition (n=24), group 2; healthy infants (n=21). Peripheral blood was obtained from the participants for studying micronutrients and LC-PUFA levels. The neurocognitive development was analyzed by the use of an Ankara Developmental Screening Inventory test. MRS were performed on all infants. RESULTS: All parameters of neurocognitive development and serum calcium (9.6±0.9 mg/dL vs. 10.4±0.3 mg/dL, p < 0.05) and magnesium (2.02±0.27 mg/dL vs. 2.2±0.14 mg/dL, p < 0.05) levels were noted as being low in infants with marked malnutrition. No difference was found in LC-PUFA levels between healthy and malnourished infants. Thalamic choline/creatine levels were significantly high in infants with malnutrition (1.33±0.22 vs. 1.18±0.22, p < 0.05). Total neurocognitive development in infants was positively correlated with serum calcium levels (p < 0.05, r=0.381). CONCLUSION: Calcium supplementation may improve neurocognitive development in malnourished infants.

Endoscopic Findings of Children with Familial Mediterranean Fever / 대한소아소화기영양학회지

PURPOSE: Familial Mediterranean fever (FMF) is an auto inflammatory disease characterized by periodic fever, synovitis and serositis. Patients may be admitted to gastroenterology units due to gastrointestinal symptoms. In this study; we aimed to analyze endoscopic findings and diagnostic utility of endoscopic procedure in children with FMF. METHODS: Patient with FMF that was performed endoscopy for the gastrointestinal symptoms were included to the study (39 of 164 patients, 53 procedure). A control group was randomly designed as age and gender matched four endoscopic procedures per one endoscopic procedure of patients with FMF (n=212). RESULTS: No different was found between the patients and control group in esophagogastroscopy findings. However, the diagnosis of gastrointestinal pathology was made by esophagogastroscopy in 46.2% patients. Colonoscopic examination revealed that the frequency of inflammatory bowel disease (IBD) was higher in undiagnosed patients compared to both the control group (50.0% vs. 6.9%, p < 0.05, odds ratio [OR]:13.4 and 95% confidence inteval [95% CI]: 2.1–84.3) and the patients under colchicine treatment (50.0% vs. 8.3%, p < 0.05, OR: 11 and 95% CI: 0.8–147.8). Colonoscopic procedure that was made after the diagnosis was found to provide contribution by 16.7% in determining the etiology of the additional symptoms. CONCLUSION: Patients with FMF may be admitted to pediatric gastroenterology outpatient clinic prior to diagnosis or during the follow-up period. The frequency of IBD is high in undiagnosed patients with FMF. Endoscopic procedures may be helpful in these patients for the diagnosis accompanying mucosal lesions.

Accessory Hepatic Lobe: A Rare Cause of Prehepatic Portal Hypertension in a Child / 대한소아소화기영양학회지

Accessory hepatic lobe is noted as and considered a rare disease in children. It can manifest with various symptoms and complications depending on the location, volume, type and position of the disease as presented on a child. The patient presented as a 14-month-old girl who was seen with a notable hepatosplenomegaly and portal hypertension. A diagnosis was made after taking an extensive medical history, observation and radiological examinations. The formal diagnosis was a prehepatic portal hypertension associated with accessory hepatic lobe.

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation / 대한소아소화기영양학회지

Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, “the odor of sweaty feet,” abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.

Disseminated Cytomegalovirus Infection and Protein Losing Enteropathy as Presenting Feature of Pediatric Patient with Crohn's Disease / 대한소아소화기영양학회지

We report a pediatric patient admitted with abdominal pain, diffuse lower extremity edema and watery diarrhea for two months. Laboratory findings including complete blood count, serum albumin, lipid and immunoglobulin levels were compatible with protein losing enteropathy. Colonoscopic examination revealed diffuse ulcers with smooth raised edge (like "punched out holes") in the colon and terminal ileum. Histopathological examination showed active colitis, ulcerations and inclusion bodies. Immunostaining for cytomegalovirus was positive. Despite supportive management, antiviral therapy, the clinical condition of the patient worsened and developed disseminated cytomegalovirus infection and the patient died. Protein losing enteropathy and disseminated cytomegalovirus infection a presenting of feature in steroid-naive patient with inflammatory bowel disease is very rare. Hypogammaglobulinemia associated with protein losing enteropathy in Crohn's disease may predispose the cytomegalovirus infection in previously healthy children.

Efficacy and Safety of Low Dose Ketamine and Midazolam Combination for Diagnostic Upper Gastrointestinal Endoscopy in Children / 대한소아소화기영양학회지

PURPOSE: We aimed to analyze the effectiveness and safety of low-dose midazolam and ketamine combination for upper gastrointestinal endoscopy (UGIE) in children. METHODS: The study included the children (n=425, 10.78+/-3.81 years) who underwent UGIE for diagnostic purpose during 1 year period. All children were sedated with low dose midazolam (0.1 mg/kg) and ketamine (0.5 mg/kg) intravenously. Effectiveness of the sedation and complications during the procedure and recovery period were recorded. RESULTS: Endoscopic procedure was successfully completed in 414 patients (97.4%; 95% confidence interval, 95.8-98.9). Mean+/-standard deviation (SD) duration of procedure was 6.36+/-1.64 minutes (median, 6.0 minutes; range, 4-12 minutes). Minor complications occurred during the procedure in 39.2% of the patients. The most common complication was increased oral secretion (33.1%). No major complications were observed in any patient. Age and Ramsay sedation scores of patients with complications during the procedure were lower than the others (9.49+/-4.05 years vs. 11.61+/-3.43 years, p=0.002 and 2.10+/-1.46 vs. 4.37+/-1.16, p=0.001). Mean recovery time was 22 minutes (range, 10-90 minutes; mean+/-SD, 25+/-12.32 minutes). Minor complications developed during recovery in 60.1% of the patients. The most common complication was transient double vision (n=127, 30.7%). Emergence reaction was observed in 5 patients (1.2%). CONCLUSION: The procedure was completed with high level of success without any major complication in our study. Combination of low-dose midazolam and ketamine is a suitable sedation protocol for pediatric endoscopists in UGIE.

Intussusception: As the Cause of Mechanical Bowel Obstruction in Adults / 대한소화기학회지

BACKGROUND/AIMS: Intussusception in adults is rarely seen and causes misdiagnosis due to its appearance with various clinical findings. The cause of intussusception in adults is frequently organic lesions. In this study, the underlying etiologic factors, diagnostic methods and alternative methods of treatment are discussed in the light of the literature. METHODS: In this study, a retrospective evaluation was performed on 47 cases with the diagnoses of intussusception, who were operated on for bowel obstruction between 1990-2011 in Department of Surgery of Necmettin Erbakan University Meram Medical Faculty. Data related to presentation, diagnosis, treatment and pathology were analyzed. RESULTS: Twenty-four of the patients (51%) were female, and 23 were male (49%). Mean age (year) was 49 (range: 23-78) in female group, and 50 (range: 17-72) in male group. All patients presented mechanical bowel obstruction findings and underwent operation. Intussusception was caused by benign and malignant tumors in 38 patients, and other reasons in 3 cases. No reason could be determined in the other 6 cases. Only small intestine resection was applied in 29 cases, and large intestine resection was also applied in 17 cases. Reduction and fixation surgery was performed in one patient. No postoperative mortality was observed. CONCLUSIONS: Adult intussusception remains a rare cause of abdominal pain. Diagnosis of intussusception in adults is still difficult. Main treatment was surgical in most cases.

Ischemic Necrosis of the Cecum: A Single Center Experience / 대한소화기학회지

BACKGROUND/AIMS: Isolated cecal necrosis is a rare cause of the surgical abdomen. Its manifestation is similar to that of acute appendicitis. Thirteen cases, who were pre-diagnosed with acute abdomen and were finally diagnosed with isolated cecal necrosis after operation have been evaluated alongside with literature. METHODS: The records of 13 patients, who had isolated cecal necroses between 1995 and 2011 at Necmettin Erbakan University Meram Medical School's General Surgery Clinic (Turkey), were retrospectively evaluated. RESULTS: Eight of the patients were male, whereas 5 were female. Their mean age was 68.0+/-11.7 (range 51-84) years. All the patients had at least one accompanying disease the most frequent of which were heart failure and chronic renal failure. Ten patients had right hemicolectomy and ileotransversostomy, two had right hemicolectomy and ileostomy, and one had wedge resection to the cecum by the help of linear stapler. Mortality was seen in 5 patients (38%) in the early postoperative period. CONCLUSIONS: Isolated cecal necrosis should be considered in elderly patients with chronic diseases presenting with sudden right lower quadrant pains in the differential diagnosis. Isolated cecal necrosis may have a bad prognosis since it is seen in elderly patients with accompanying problems. Therefore, early diagnosis and immediate surgical management if necessary is important to reduce the risk of morbidity and mortality.

The effects of flavanoid on the treatment of hepatopulmonary syndrome / 대한외과학회지

PURPOSE: Hepatopulmonary syndrome is an arterial oxygenation disorder brought about by advanced liver failure and pulmonary vascular dilatations. The reason why hypoxia develops in hepatopulmonary syndrome depends on the broadening of perialveolar capillary veins. Our study aims to investigate the effects of Flavanoid on hepatopulmonary syndrome through its inhibition of nitric oxide. METHODS: Three groups, each having 8 rats, were formed within the scope of our study. Group I (the control group) only received laparatomy, group II received choledoch ligation, and group III was administered Flavanoid (90% flavonoid diosmin, 10% flavonoid hesperidin) following choledoch ligation. The rats were administered Flavanoid at week two following choledoch ligation. The rats' livers and lungs were examined histopathologically following a five-week follow-up and the perialveolar vein diameters were measured. Arterial blood gases and biochemical parameters were evaluated. RESULTS: It was seen that fibrosis and oxidative damage in the liver with obstructive jaundice as well as hypoxia with pulmonary perialveolar vein sizes were significantly lower than the other group with cirrhosis formed through the administration of Flavanoid. CONCLUSION: We have concluded that Flavanoid administration might be useful in the treatment of hypoxia in hepatopulmonary syndrome and the delay of cirrhosis contraction.

Ischemia-Modified Albumin Levels in Children with Chronic Liver Disease

BACKGROUND/AIMS: Ischemia-modified albumin (IMA) levels have been shown to correlate with the severity of liver failure in adults. However, the role of IMA levels has not been evaluated in children with chronic liver disease (CLD). We analyzed the clinical significance of IMA levels in children with CLD. METHODS: Thirty-three children with CLD and 33 healthy children were included in the study. Blood was collected to analyze biochemical parameters, oxidant status, and IMA. Liver biopsies were re-evaluated for liver fibrosis; severe fibrosis (SF) was defined as fibrosis stage > or =4. RESULTS: The IMA and and IMA to albumin ratios (IMARs) were significantly higher in children with CLD than in those without (IMA: 0.545+/-0.095 vs 0.481+/-0.062, p=0.003; IMAR: 0.152+/-0.046 vs 0.126+/-0.018, p=0.04). The IMAR was positively correlated with the pediatric end-stage liver disease score (p=0.03, r=0.503) and fibrosis score (p=0.021, r=0.400). Patients with SF had higher IMARs compared to patients with mild fibrosis (0.181+/-0.056 vs 0.134+/-0.025, p=0.003). The area under the receiver operation curve (AUROC) for predicting SF was 0.78 (p=0.006). Using a cutoff ratio value of 0.140, the sensitivity and specificity were 84% and 70%, respectively. The AUROC for predicting the need for liver transplantation and/or death was 0.82 (p=0.013). With a cutoff value of 0.156, the sensitivity and specificity was 83% and 82%, respectively. Kaplan-Meier analysis revealed increased morbidity and/or mortality in the group with an IMAR>0.156 (50% vs 4.3%, p=0.005). CONCLUSIONS: IMARs have been shown to provide important clues in predicting the fibrosis stage of the disease and determining the outcome in children with CLD.

rare complication of central catheter in an infant with intestinal failure

To report the successful percutaneous transcatheter removal of a snapped intracardiac fragment of the central vein catheter in an infant. A3-month-old infant with short bowel syndrome who required long-term parenteral nutrition via portacath central catheter was hospitalized. Two months after the insertion of the second catheter, the distal tip of the catheter snapped and became tangled in the heart. The catheter fragment was removed by a percutaneous femoral vein approach using a 10-mm diameter snare-loop catheter [Amplatz].The procedure was performed under fluoroscopy; the fragment was removed after being released into the right ventricle by pulling the proximal tip with a pigtail catheter. No complications were observed and the patient was transported back to the intensive unit in stable condition. Central catheter-related complications may cause difficulties in patients with short bowel syndrome prior to intestinal transplantation. The percutaneous retrieval of the fragmented catheter using a snare-loop catheter is a safe and reliable technique and may be used instead of surgery especially in small infants

Benign acute childhood myositis

To evaluate the clinical and laboratory findings of benign acute childhood myositis. Subjects andSix children, 1 girl and 5 boys, aged 3-9 years, were admitted to Karadeniz Technical University Paediatric Neurology Department in Trabzon, Turkey, with the diagnosis of benign acute childhood myositis in January and February 2002. The clinical and laboratory findings on the patients were analysed. Serum creatine kinase and aspartate aminotransferase levels were increased in all cases. Two patients had leucopenia. Viral studies were negative. All the patients had a good outcome, and full recovery was achieved within 12 h to 3 days. Benign acute childhood myositis is a self-limiting disease with a good prognosis. Pediatricians and pediatric neurologists must be aware of this condition to avoid unnecessary investigations and to differentiate this condition from other causes of acute onset of inability to walk. It may occur in epidemics mainly in the wintertime, suggesting a viral aetiology