SPECT/CT in the Diagnosis of Ectopic Gastric Mucosa-Meckel's Diverticulum.

Aim The imaging of Meckel's diverticulum (MD) is based of accumulation of Tc-99m pertechnetate in the ectopic gastric mucosa (EGM) content. Although the diagnostic accuracy of this imaging modality is high, there are some overlap patients with coexisting gastrointestinal bleeding and false positive causes hampering diagnostic power. The aim of this study was to evaluate the possible contribution of single-photon emission computed tomography/computed tomography (SPECT/CT) in EGM-MD diagnosis and to determine the indication of this additional imaging modality. Materials and Methods Fifty-two pediatric patients (24 girls, 28 boys; mean age: 8.06 ± 5.22 years old) who have suspicion of MD and referred for scintigraphy were evaluated retrospectively. Additional SPECT/CT were performed to selected five cases among the group. The results of the scintigraphy as well as SPECT/CT were compared with endoscopy, pathology, and/or follow-up results. Results There were 9 patients with equivocal study results, 12 positive results, and the others were considered negative MD scintigraphy. One patient was out of follow-up and 10 patients underwent surgery. Only one single patient was negative during surgery but scintigraphy was also negative. The diagnostic sensitivity, specificity, and accuracy were 100, 95, and 96%, respectively. Among five patients with SPECT/CT results one patient was diagnosed by only SPECT/CT who had EGM in duplication cyst, one equivocal patient was diagnosed as descending colon bleeding, and one patient's lesion was clearly delineated by SPECT/CT. Conclusion SPECT/CT has clear advantage over standard planar scintigraphy imaging in EGM-MD determination. This modality might decrease equivocal and false positive results but this issue has to be addressed with further studies.

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.

AIM: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. METHODS: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. RESULTS: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. CONCLUSIONS: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.

Pediatric EBV Positive Mucocutaneous Ulceration in Stomach a Rare Entity.

Epstein Barr virus (EBV) related lymphoproliferative diseases may occur in immunocompromised patients or patients with a history of drug use causing immunodeficiency. EBV positive mucocutaneous ulceration in the new classification of lymphoproliferative diseases in 2016 is very rare in children. Involvement occurs in the skin, oral mucosa, and gastrointestinal system. Gastric involvement is very rare in the literature. There is no case of gastric involvement in children. There are no specified modalities in the treatment of EBV positive mucocutaneous ulceration. We presented our pediatric patient with ataxia telangiectasia who presented with abdominal pain and difficulty swallowing and diagnosed with EBV positive mucocutaneous ulceration in the stomach. We started brentuximab vedotin during the treatment process, and complete remission was achieved after 6 cures of treatment. Our patient is the first case of EBV positive mucocutaneous ulceration in the pediatric case series.

Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.

OBJECTIVE: CAV1 encodes caveolin-1, a major protein of plasma membrane microdomains called caveolae, involved in several signaling pathways. Caveolin-1 is also located at the adipocyte lipid droplet. Heterozygous pathogenic variants of CAV1 induce rare heterogeneous disorders including pulmonary arterial hypertension and neonatal progeroid syndrome. Only one patient was previously reported with a CAV1 homozygous pathogenic variant, associated with congenital generalized lipodystrophy (CGL3). We aimed to further delineate genetic transmission, clinical, metabolic, and cellular characteristics of CGL3. DESIGN/METHODS: In a large consanguineous kindred referred for CGL, we performed next-generation sequencing, as well as clinical, imagery, and metabolic investigations. We studied skin fibroblasts from the index case and the previously reported patient with CGL3. RESULTS: Four patients, aged 8 months to 18 years, carried a new homozygous p.(His79Glnfs*3) CAV1 variant. They all displayed generalized lipodystrophy since infancy, insulin resistance, low HDL-cholesterol, and/or high triglycerides, but no pulmonary hypertension. Two patients also presented at the age of 15 and 18 years with dysphagia due to achalasia, and one patient had retinitis pigmentosa. Heterozygous parents and relatives (n = 9) were asymptomatic, without any metabolic abnormality. Patients' fibroblasts showed a complete loss of caveolae and no protein expression of caveolin-1 and its caveolin-2 and cavin-1 partners. Patients' fibroblasts also displayed insulin resistance, increased oxidative stress, and premature senescence. CONCLUSIONS: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.

Pullout performance comparison of novel expandable pedicle screw with expandable poly-ether-ether-ketone shells and cement-augmented pedicle screws.

Aim of this study is to assess the pullout performance of various pedicle screws in different test materials. Polyurethane foams (Grade 10 and Grade 40) produced in laboratory and bovine vertebrae were instrumented with normal, cannulated (cemented), novel expandable and normal (cemented) pedicle screws. Test samples were prepared according to the ASTM F543 standard testing protocols and surgical guidelines. To examine the screw placement and cement distribution, anteriosuperior and oblique radiographs were taken from each sample after insertion process was completed. Pullout tests were performed in an Instron 3369 testing device. Load versus displacement graphs were recorded and the ultimate pullout force was defined as the maximum load (pullout strength) sustained before failure of screw. Student's t-test was performed on each group whether the differences between pullout strength of pedicle screws were significant or not. While normal pedicle screws have the lowest pullout strength in all test materials, normal pedicle screws cemented with polymethylmethacrylate exhibit significantly higher pullout performance than others. For all test materials, there is a significant improvement in pullout strength of normal screws by augmentation. While novel expandable pedicle screws with expandable poly-ether-ether-ketone shells exhibited lower pullout performance than normal screws cemented with polymethylmethacrylate, their pullout performances in all groups were higher than the ones of normal and cannulated pedicle screws. For all test materials, although cannulated pedicle screws exhibit higher pullout strength than normal pedicle screws, there are no significant differences between the two groups. The novel expandable pedicle screws with expandable poly-ether-ether-ketone shells may be used instead of normal and cannulated pedicle screws cemented with polymethylmethacrylate due to their good performances.

Ineffectiveness of infliximab therapy in severe infantile Crohn's disease.

Crohn's disease is extremely rare in infancy and can be present in severe forms. Infants with Crohn's disease might require intensive immunosuppressive therapy. Infliximab is a chimeric mouse/human monoclonal IgG1 antibody against tumor necrosis factor-α, and completely neutralizes its biologic activity. Though widely used in the treatment of pediatric Crohn's disease, there are few data regarding its applicability in infancy. We therefore report herein our experiences with infliximab therapy in two infantile patients with Crohn's disease who were resistant to conventional therapies; one patient showed a partial response while there was no response in the second. We were unable to achieve satisfactory results from infliximab therapy. It remains to be determined whether inflammatory bowel disease starting in infancy represents a separate pathogenetic subgroup and whether the inflammatory bowel disease diagnosis should follow the exclusion of an immunodeficiency state. Studies in larger series are needed to further clarify the efficacy, safety and timing of infliximab therapy for infantile Crohn's disease patients.

The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children.

BACKGROUND AND AIMS: Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) concordance has been investigated in a few studies. We investigated MEFV mutations and prevalence of FMF disease in Turkish children with IBD and their relationship with the disease severity. METHODS: Sixteen patients with ulcerative colitis (UC), 14 with Crohn's disease (CD) and three with indeterminate colitis (IC) were enrolled in the study (median age 13 years, range 0.6-16 years, n = 19 boys). Demographic, clinical and laboratory characteristics of the patients were evaluated as well as the parameters of disease severity. All patients were screened for 12 common MEFV mutations. RESULTS: MEFV mutations were detected in 17 of 66 (25.7%) alleles. Seven patients (four patients with CD, two with IC, and one with UC) were also diagnosed as FMF. FMF disease was found in seven of all IBD patients (21.2%) and four of them had CD. M694V was the leading mutation, and as a disease-causing mutation, it was found to be significantly more frequent in CD patients than UC patients (Fisher's exact test P = 0.03). Demographics, laboratory evaluations, growth parameters, extraintestinal manifestations, and treatment with immunosuppressive agents other than steroids were comparable between the patients with and without FMF in most aspects. CONCLUSIONS: Although this is a small cohort, disease-causing MEFV mutations and FMF disease rate were increased among our patients with IBD. The increase was prominent among CD patients, whereas in UC the rate was similar to the Turkish healthy control population.

An overlap syndrome involving autoimmune hepatitis and systemic lupus erythematosus in childhood.

We report a 12 years old female patient with an overlap syndrome involving autoimmune hepatitis (AIH) and systemic lupus erythematosus (SLE). The patient presented with jaundice, hepatosplenomegaly, malaise, polyarthralgia, arthritis and butterfly rash on the face. Laboratory tests revealed severe liver dysfunction, Coombs positive hemolytic anemia and a positive ANA/anti-dsDNA test. Renal biopsy showed class IIA kidney disease, while liver biopsy showed chronic hepatitis with severe inflammatory activity. The patient satisfied the international criteria for both SLE and AIH. Clinical symptoms and laboratory findings of SLE improved with high dose treatment with corticosteroids and azathioprine, however, remission of the liver disease could not be achieved. Repeat biopsy of the liver after three years of therapy revealed ongoing chronic hepatitis with high level of inflammatory activity. The present case indicates that children with liver dysfunction and SLE should be investigated for AIH. There is much diagnostic and therapeutic dilemma in patients with AIH-SLE overlap syndrome.

Bone mineral density in children with cirrhosis.

BACKGROUND: Despite the clinical importance of osteoporosis in individuals with cirrhosis, little is known about it, especially in children. We evaluated the bone mineral density (BMD) and bone mineral content (BMC) of children with cirrhosis. METHODS: Forty children with cirrhosis (mean age, 10.4 +/- 3.9 years) were involved. BMD and BMC were measured by dual energy X-ray absorptiometry at lumbar vertebrae 1-4, and the results were compared with those of 62 healthy age- and sex-matched children. RESULTS: The mean lumbar spine BMD of patients with cirrhosis was 0.482 +/- 0.107 g/cm(2) and that of the controls was 0.687 +/- 0.172 g/cm(2) (P < 0.0001). The mean lumbar spine BMC of patients with cirrhosis was 20.008 +/- 8.409 g and that of controls was 32.859 +/- 14.665 g (P < 0.0001). After the confounding variables (weight, height, and pubertal stage) were controlled for, the difference in BMD and BMC values between patients with cirrhosis and healthy controls was significant (0.535 +/- 0.061 g/cm(2) vs 0.653 +/- 0.048 g/cm(2), and 24.515 +/- 5.052 g vs 29.952 +/- 3.971 g, respectively). CONCLUSIONS: Because of the significant difference in BMD and BMC values between our patients with cirrhosis and healthy controls, patients with cirrhosis should be evaluated for osteopenia.

Effects of pentoxifylline in adriamycin-induced renal disease in rats.

Tumor necrosis factor-alpha (TNF-alpha) is a mediator of inflammation in human and animal renal disease. Pentoxiphylline (PTX) is an inhibitor of TNF-alpha. In this study we examined the effects of PTX on TNF-alpha, proteinuria, nitrite production, and apoptosis in an experimental model of Adriamycin (ADR) nephropathy in rats. Rats were divided into four groups: untreated Wistar rats (controls), PTX treatment alone, ADR treatment alone to induce nephropathy, and ADR treatment followed by PTX. ADR treatment followed by PTX treatment prevented the increase in serum TNF-alpha levels and proteinuria in rats with ADR-nephropathy ( P<0.05). Urine nitrite levels were significantly increased in the ADR-induced nephropathy group and the increase was prevented in the ADR-induced nephropathy group when they also received PTX. The urine nitrite levels were not different between the PTX-treated group and the untreated control rats. PTX prevented the rise of serum TNF-alpha in ADR nephropathy rats and a decrease in proteinuria, urine nitrite, and apoptosis in the renal tissue. These findings suggest a beneficial anti-inflammatory effect of PTX.