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.

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.

Objective: : The aim of this study to investigate the benefits of patient-based 3-dimensional (3D) cerebral arteriovenous malformation (AVM) models for preoperative surgical planning and education. Methods: : Fifteen patients were operated on for AVMs between 2015 and 2019 with patient-based 3D models. Ten patients’ preoperative cranial angiogram screenings were evaluated preoperatively or perioperatively via patient-based 3D models. Two patients needed emergent surgical intervention; their models were solely designed based on their AVMs and used during the operation. However, the other patients who underwent elective surgery had the modeling starting from the skull base. These models were used both preoperatively and perioperatively. The benefits of patients arising from treatment with these models were evaluated via patient files and radiological data. Results: : Fifteen patients (10 males and five females) between 16 and 66 years underwent surgery. The mean age of the patients was 40.0±14.72. The most frequent symptom patients observed were headaches. Four patients had intracranial bleeding; the symptom of admission was a loss of consciousness. Two patients (13.3%) belonged to Spetzler-Martin (SM) grade I, four (26.7%) belonged to SM grade II, eight (53.3%) belonged to SM grade III, and one (6.7%) belonged to SM grade IV. The mean operation duration was 3.44±0.47 hours. Three patients (20%) developed transient neurologic deficits postoperatively, whereas three other patients died (20%). Conclusion : Several technological innovations have emerged in recent years to reduce undesired outcomes and support the surgical team. For example, 3D models have been employed in various surgical procedures in the last decade. The routine usage of patient-based 3D models will not only support better surgical planning and practice, but it will also be useful in educating assistants and explaining the situation to the patient as well.

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.
Child ; Demography ; Fibrosis ; Follow-Up Studies ; Gastroenterology ; Genetics ; Genotype ; Hepatitis, Chronic ; Humans ; Liver Diseases ; Liver ; Pathology ; Prevalence ; Prognosis

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.
Brain ; Calcium ; Cell Count ; Cell Movement ; Child ; Cognition ; Fatty Acids, Unsaturated ; Humans ; Infant ; Magnesium ; Magnetic Resonance Spectroscopy ; Malnutrition ; Mass Screening ; Micronutrients ; Spectrum Analysis ; Synaptic Transmission

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.
Abdominal Pain ; Acid-Base Equilibrium ; Acidosis ; Child* ; Coma ; Diagnosis ; Diagnosis, Differential ; Humans ; Hyperammonemia ; Hypoglycemia ; Isovaleryl-CoA Dehydrogenase ; Ketosis ; Metabolic Diseases ; Metabolism ; Odors ; Pancreatitis* ; Shock ; Vomiting

Objective To determine the antileishmanial vaccine effectiveness of lipophosphoglycan (LPG) and polyacrylic acids (PAA) conjugates on in vivo mice models. Methods LPG molecule was isolated and purified from large-scale Leishmania donovani parasite culture. Protection efficacies of LPG alone, in combination with Freund's adjuvant, in a physical mixture and in conjugate (consisting of various LPG concentrations) with PAA, were comparatively determined by various techniques, such as cultivation with the micro-culture method, assessment of in vitro infection rates of peritoneal macrophages, determination of parasite load in liver with Leishman-Donovan Units, and detection of cytokine responses. Results Obtained results demonstrated that the highest vaccine-mediated immune protection was provided by LPG-PAA conjugate due to all parameters investigated. According to the Leishman-Donovan Units results, the sharpest decline in parasite load was seen with a ratio of 81.17% when 35 μg LPG containing conjugate was applied. This value was 44.93% for the control group immunized only with LPG. Moreover, decreases in parasite load were 53.37%, 55.2% and 65.8% for the groups immunized with 10 μg LPG containing LPG-PAA conjugate, a physical mixture of the LPG–PAA, and a mixture of LPG + Freund's adjuvant, respectively. Furthermore, cytokine results supported that Th1 mediated protection occurred when mice were immunized with LPG-PAA conjugate. Conclusions It has been demonstrated in this study that conjugate of LPG and PAA has an antileishmanial vaccine effect against visceral leishmaniasis. In this respect, the present study may lead to new vaccine approaches based on high immunogenic LPG molecule and adjuvant polymers in fighting against Leishmania infection.

INTRODUCTIONA subungual exostosis (SE) is a bony overgrowth that is permanently attached to the tip of the distal phalanx. Its pathology differs from osteocartilaginous exostoses in that it mainly involves the overgrowth of normal bone, which may present beneath the toenail or on the sides of the toe. This retrospective study aimed to report the results of surgical treatment when the diagnosis of SE was delayed; the condition was initially considered to be another pathology affecting a different nail or the terminal toe.

METHODSA total of 17 patients (12 female, five male) were included in the study. All surgical resections were performed by the same surgeon using the same surgical technique, with the patient under digital anaesthesia. The patients were evaluated pre- and postoperatively (on Weeks 1 and 6, the first year, and the last follow-up visit) using the American Orthopaedic Foot and Ankle Society questionnaire and the Visual Analogue Scale score.

RESULTSThe patients underwent surgery for SE removal between December 2009 and October 2012. Their mean age was 21.3 ± 4.4 (range 14-29) years and the mean follow-up period was 27.1 ± 7.8 (range 18-45) months. Clinical or radiological recurrence was not observed in any of the patients during the follow-up period. Four patients had superficial infections, which were treated using appropriate antibiotic therapies.

CONCLUSIONAs SE is an uncommon benign lesion, its diagnosis may be delayed. Radiography may be useful in obtaining a differential diagnosis.

Adolescent ; Adult ; Bone Neoplasms ; diagnostic imaging ; surgery ; Cartilage ; diagnostic imaging ; surgery ; Diagnosis, Differential ; Exostoses ; diagnostic imaging ; surgery ; Female ; Humans ; Male ; Middle Aged ; Nail Diseases ; diagnostic imaging ; surgery ; Nails ; surgery ; Orthopedics ; methods ; Pain Measurement ; Postoperative Period ; Recurrence ; Retrospective Studies ; Surveys and Questionnaires ; Young Adult

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.
Abdominal Pain ; Agammaglobulinemia ; Blood Cell Count ; Child ; Colitis ; Colon ; Crohn Disease* ; Cytomegalovirus ; Cytomegalovirus Infections* ; Diarrhea ; Edema ; Humans ; Ileum ; Immunoglobulins ; Inclusion Bodies ; Inflammatory Bowel Diseases ; Lower Extremity ; Protein-Losing Enteropathies* ; Serum Albumin ; Ulcer

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.
Child* ; Conscious Sedation ; Diplopia ; Endoscopy ; Endoscopy, Gastrointestinal* ; Humans ; Ketamine* ; Midazolam*