Plain radiography is a useful tool for distinguishing many intraabdominal pathologies and it rarely leads to a surprising diagnosis. Here, present a 12-year-old girl who presented with abdominal ...discomfort, dull pain and tenderness on palpation in the right upper quadrant, epigastrium and the right flank. Plain radiography showed an opacification due to gastric wall thickening. She was diagnosed with gastric ulcer, erosive gastropathy and duodenal ulcer based on findings of endoscopic examination. Her NSAID medication was ceased, and she was commenced on proton pump inhibitor. Her symptoms and radiological and endoscopic findings improved after two months of treatment. Gastric wall thickening seen on plain radiography as an opacified area is a rare evidence of peptic ulcer in children and may guide to choose endoscopy first instead of other modalities involving exposure to ionising radiation in further evaluation.
Introduction: When transaminase levels (Alanine aminotransferase: ALT, Aspartate aminotransferase: AST) are high, a causal investigation is necessary. Although the etiology and frequency of ...hypertransaminasemia have been examined at length in the adult population, research addressing pediatric patients is far from being sufficient in number. The objective of this study is to investigate the causes the hypertransaminasemia. We think that knowing the most common causes of hypertransaminasemia in children will help primary care physicians with diagnosis and follow-up.Methods: The patients who were admitted to the pediatric gastroenterology policlinic between 2018- 2019 with ALT> 45 IU /L and/or AST> 50 IU /L levels were the subjects of this study. They all displayed elevated liver function test (LFT) results due to various conditions including liver-related ones and others. The medical records of the patients, who were between 6 months and 18 years of age, were analyzed.Results: Of 237 patients included in the study, 127 (54%) were male and 110 (46%) were female. The mean age of the patients was 75.40 ± 60.50 months. 5.06% of the patients had fever, 11.39% had hepatomegaly, 7.59% suffered from loss of appetite and 7.59% had abdominal pain. The obesity rate was at 9.70% while splenomegaly was detected in 2.11% of the patients. Elevation of liver enzymes was found to be related with idiopathic causes 35% (n=83), viral infections 21% (n=50), hepatosteatosis 15% (n=38), and medication 8.80% (n=21).Conclusion: Hypertransaminasemia may be an outcome of primary diseases of the liver and it may also be aggravated due to secondary effects. NAFLD (non-alcoholic fatty liver disease, viral infections, and medication continue to be among the most common causes. NAFLD constitutes an important cause of hypertransaminemia in children.
Giriş: Çocuklarda transaminaz düzeyleri (Alanin amino transferaz: ALT, Aspartat aminotransferaz: AST) yüksek olduğunda etyolojiye yönelik araştırmalar yapılmalıdır. Yetişkin popülasyonda yapılan çalışmalarda hipertransaminazeminin etiyolojisi ve sıklığı ayrıntılı olarak incelenmiş olsa da, pediatrik hastaları ele alan araştırma sayısı yeterli değildir. Bu çalışmanın amacı hipertransaminazeminin nedenlerini araştırmaktır. Çocuklarda hipertransaminazeminin en yaygın nedenlerini bilmenin, birinci basamak hekimlerine tanı ve takipte yardımcı olacağını düşünüyoruz.Yöntem: 2018-2019 yılları arasında ALT> 45 IU / L ve / veya AST> 50 IU / L düzeyleri ile pediyatrik gastroenteroloji polikliniğine başvuran hastalar incelendi. 6 ay ile 18 yaş arasındaki karaciğer fonksiyon testleri yüksek olan hastaların tıbbi kayıtları analiz edildi.Bulgular: Çalışmaya dahil edilen 237 hastanın 127'si (%54) erkek, 110'u (%46) kadındı. Hastaların ortalama yaşı 75,40 ± 60,50 ay idi. Hastaların%5,06'sında ateş, %11,39'unda hepatomegali, %7,59'unda iştah kaybı ve %7,59'unda karın ağrısı vardı. Obezite oranı %9,70 iken, hastaların %2,11'inde splenomegali saptandı. Karaciğer enzimlerinin yükselmesi idiyopatik nedenler %35 (n = 83), viral enfeksiyonlar %21 (n = 50), hepatosteatoz %15 (n = 38) ve ilaç %8,80 (n = 21) ile ilişkili bulunmuştur.Sonuç: Hipertransaminazemi karaciğerin primer hastalıklarının bir sonucu olabilir ve sekonder etmenler nedeniyle de şiddetlenebilir. NAFLD (non-alkolik yağlı karaciğer hastalığı), viral enfeksiyonlar ve ilaç kullanımı en yaygın nedenler arasında olmaya devam etmektedir. NAFLD, çocuklarda hipertransaminazeminin önemli bir nedenini oluşturmaktadır.
Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with ...mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from diacylglycerol and acyl-CoA. We investigated the mechanisms by which DGAT1 deficiency contributes to intestinal failure using patient-derived organoids.
We collected blood samples from 10 patients, from 6 unrelated pedigrees, who presented with early-onset severe diarrhea and/or vomiting, hypoalbuminemia, and/or (fatal) protein-losing enteropathy with intestinal failure; we performed next-generation sequencing analysis of DNA from 8 patients. Organoids were generated from duodenal biopsies from 3 patients and 3 healthy individuals (controls). Caco-2 cells and patient-derived dermal fibroblasts were transfected or transduced with vectors that express full-length or mutant forms of DGAT1 or full-length DGAT2. We performed CRISPR/Cas9-guided disruption of DGAT1 in control intestinal organoids. Cells and organoids were analyzed by immunoblot, immunofluorescence, flow cytometry, chromatography, quantitative real-time polymerase chain reaction, and for the activity of caspases 3 and 7.
In the 10 patients, we identified 5 bi-allelic loss-of-function mutations in DGAT1. In patient-derived fibroblasts and organoids, the mutations reduced expression of DGAT1 protein and altered triacylglycerol metabolism, resulting in decreased lipid droplet formation after oleic acid addition. Expression of full-length DGAT2 in patient-derived fibroblasts restored formation of lipid droplets. Organoids derived from patients with DGAT1 mutations were more susceptible to lipid-induced cell death than control organoids.
We identified a large cohort of patients with congenital diarrheal disorders with mutations in DGAT1 that reduced expression of its product; dermal fibroblasts and intestinal organoids derived from these patients had altered lipid metabolism and were susceptible to lipid-induced cell death. Expression of full-length wildtype DGAT1 or DGAT2 restored normal lipid metabolism in these cells. These findings indicate the importance of DGAT1 in fat metabolism and lipotoxicity in the intestinal epithelium. A fat-free diet might serve as the first line of therapy for patients with reduced DGAT1 expression. It is important to identify genetic variants associated with congenital diarrheal disorders for proper diagnosis and selection of treatment strategies.
Display omitted
Sleep disturbances are common in patients with celiac disease (CD), but their response to a gluten-free diet (GFD) treatment remains scarce. This study investigated the alteration in sleep ...disturbances within 6 months of starting a GFD in children with CD.
A total of 103 children initially diagnosed with CD, with no psychiatric diagnosis and not receiving psychotropic medication, were included in this study. Sociodemographic data were collected, and the Children's Sleep Habits Questionnaire (CSHQ) was completed both before and after six months of initiating a GFD.
Overall, the total average CSHQ score was 46; after starting the GFD, this decreased to 40, which was under the clinically significant cutoff level for sleep disturbance (p < 0.001). A total of 74 patients (71.8%) had a CSHQ score above the clinically significant cutoff before treatment, which decreased to 40 patients (38.8%) six months after GFD (p < 0.001). A significant improvement was detected in all CSHQ subscale scores and in the total CSHQ score after starting the GFD (p < 0.001). Parasomnia and the total CSHQ score were higher in children who were diagnosed incidentally compared to symptomatic children but did not differ after GFD (p < 0.005). In 39 patients (37.8%), the total CSHQ score remained high 6 months after starting the GFD. Maternal and paternal ages were significantly higher in children whose scores remained high (p < 0.05).
A significant improvement in sleep scores was detected after starting a GFD, regardless of initial age, sex, and symptom status. With a GFD, children may fall asleep more easily and sleep for longer with less interruptions. GFD may help to reduce sleep disturbances in CD, but future studies should investigate the certain conditions in patients who do not respond to a GFD.
Celiac disease (CD) has a substantial impact on caregivers since parental involvement is inevitable in a gluten-free diet (GFD). This study aims to compare the alteration in depression and perceived ...stress levels in parents of children with CD within 6 months of GFD. Parents of 104 pre-treatment children with CD were included. Beck depression inventory (BDI) and perceived stress scale (PSS) were applied to parents before and after treatment. BDI and PSS scores lowered significantly. Final PSS scores were higher in working mothers, parents with higher education, higher income and parents of symptomatic patients. This study highlights the need for psychosocial support in CD.
Full text
Available for:
BFBNIB, NUK, PILJ, SAZU, UL, UM, UPUK, VSZLJ
Plain radiography is a useful tool for distinguishing many intraabdominal pathologies and it rarely leads to a surprising diagnosis. Here, present a 12-year-old girl who presented with abdominal ...discomfort, dull pain and tenderness on palpation in the right upper quadrant, epigastrium and the right flank. Plain radiography showed an opacification due to gastric wall thickening. She was diagnosed with gastric ulcer, erosive gastropathy and duodenal ulcer based on findings of endoscopic examination. Her NSAID medication was ceased, and she was commenced on proton pump inhibitor. Her symptoms and radiological and endoscopic findings improved after two months of treatment. Gastric wall thickening seen on plain radiography as an opacified area is a rare evidence of peptic ulcer in children and may guide to choose endoscopy first instead of other modalities involving exposure to ionising radiation in further evaluation. Keywords: Gastric wall thickening, plain radiography, intra abdominal opacification, child, gastric ulcer Düz radyografi birçok intraabdominal patolojiyi ayirt etmek için yararli bir araçtir ve nadiren sasirtici bir taniya götürür. Burada sunulan 12 yasindaki kiz çocugun abdominal rahatsizligi, sag üst kadran, epigastrium ve sag bögürde künt bir agrisi ve palpasyonla hassasiyeti vardi. Düz radyografi gastrik duvar kalinlasmasina bagli bir opaklasmayi gösterdi. Endoskopik inceleme ile gastrik ülser, eroziv gastropati ve duodenal ülser tanisi konuldu. NSAID ilaci kesildi ve proton pompa inhibitörü baslandi. Iki aylik tedavinin sonunda semptomlari, radyolojik ve endoskopik bulgulari geriledi. Opasifiye bir alan olarak düz radyografide görülen mide duvari kalinlasmasi, çocuklarda peptik ülser için nadir bir kanittir ve ileri degerlendirmede radyasyon veren diger modaliteler yerine, önce endoskopiyi seçmeye kilavuzluk edebilir. Anahtar Kelimeler: Gastrik duvar kalinlasmasi, düz radyografi, intraabdominal opasifikasyon, çocuk, gastrik ülser
Introduction
Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker ...muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.
Methods
This multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.
Results
Overall, 589 patients 66.8% male, mean age of 63.4 months (standard deviation: 60.5) were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (
p
< 0.001).
Discussion
Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases.
Trial Registration
Clinicaltrials.gov
NCT04120168.
PDF
