To investigate the impact of gluten-free diet adherence on bone mineral density and growth in children with celiac disease.This retrospective cross-sectional study reviewed the medical records of 75 pediatric patients di...To investigate the impact of gluten-free diet adherence on bone mineral density and growth in children with celiac disease.This retrospective cross-sectional study reviewed the medical records of 75 pediatric patients diagnosed with celiac disease. Data on adherence to a gluten-free diet, bone mineral density assessed by dual-energy X-ray absorptiometry, anthropometric measurements, and laboratory parameters were collected. Bone mineral density was evaluated using -scores, and low bone mass for age was defined as a bone mineral density -score of<-2 according to International Society for Clinical Densitometry pediatric guidelines.Of the 75 patients, 26 (34.7%) patients were men and 49 (65.3%) patients were women; 48 (64%) patients adhered to the diet and 27 (36%) patients did not. Most patients (96%) had normal bone mineral density -scores, while 3 (4%) patients had low bone mass for age. The mean height was 141.09±19.34 cm and the mean weight was 37.50±14.95 kg. Growth failure was observed in 10.6% for height, 21.3% for weight, and 5.3% for both. No significant association was observed between diet adherence and sex, bone mineral density findings, growth failure, or most laboratory parameters. Ferritin levels were significantly higher in adherent patients, and positive correlations were observed between diet adherence and hemoglobin and ferritin levels.Adherence to a gluten-free diet showed a trend toward higher bone mineral density -scores but without statistically significant differences. The low prevalence of low bone mass for age may limit the detection of differences between groups. Prospective longitudinal studies are needed to clarify the long-term impact of dietary adherence on bone health in pediatric celiac disease.
INTRODUCTION: Constipation is a common cause of pediatric acute abdominal pain and, consequently, may be a frequent cause for presenting to emergency departments. Data on the effectiveness of administering enemas in the...INTRODUCTION: Constipation is a common cause of pediatric acute abdominal pain and, consequently, may be a frequent cause for presenting to emergency departments. Data on the effectiveness of administering enemas in the emergency department are scarce. This study aimed to evaluate the effect of enemas in the emergency department on symptom relief and inpatient admission rates in patients with pediatric acute abdominal pain, including adverse events. MATERIALS AND METHODS: We retrospectively analyzed 1,723 pediatric acute abdominal pain patients aged 3-17 years presenting to the emergency department of our tertiary pediatric surgery center from 2018 to 2019. The clinical course, the rate of inpatient admission, the rate of surgical intervention, and final diagnosis were assessed in patients who did or did not receive an enema. RESULTS: Symptom relief and consecutive discharge from the emergency department were more frequent in the enema group (81% vs. 67% and <0.0001). Fewer patients in the enema-group were operated on (8% vs. 13% and =0.0003). The rate of revisits to the emergency department within 14 days, the rate of surgery after revisits, the rate of intraoperatively confirmed appendicitis, and the rate of patients admitted but managed conservatively did not differ between the two groups. No enema-related complication was recorded. CONCLUSIONS: Administering an enema to otherwise healthy children and adolescents with acute abdominal pain is safe. Administering enemas to pediatric acute abdominal pain patients may decrease the rate of inpatient admissions. Discharging patients in whom an enema-prompted bowel movement has led to the relief of symptoms does not lead to an increased rate of readmissions or surgery.
BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive disorder with camptodactyly, non-inflammatory arthropathy, coxa vara, and pericarditis. Symptoms usually begin in early...BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive disorder with camptodactyly, non-inflammatory arthropathy, coxa vara, and pericarditis. Symptoms usually begin in early childhood with swelling of interphalangeal joints, wrists, and knees. Pericarditis is rare. It is caused by proteoglycan 4 gene mutations and often misdiagnosed as juvenile idiopathic arthritis due to overlapping features. CASE PRESENTATION: A 4-year-old boy presented with 6 months of knee and wrist swelling and nocturnal pain. His parents were first-degree cousins, and a maternal uncle had rheumatoid arthritis. He had prior hip surgeries at 2.5 years. Examination showed swelling in knees, ankles, and wrists, and 30° wrist extension limitation. No systemic symptoms were noted. The erythrocyte sedimentation rate, C-reactive protein level, and antinuclear antibody test results were normal. Magnetic resonance imaging showed effusion and synovial thickening. Initially diagnosed with polyarticular juvenile idiopathic arthritis, he received methotrexate and etanercept. Due to progressive gait issues and radiographic coxa vara, diagnosis was revised. Genetic testing confirmed homozygous proteoglycan 4 (c.915delC) mutation. CONCLUSIONS: This case underscores an atypical camptodactyly-arthropathy-coxa vara-pericarditis presentation without camptodactyly. Persistent non-inflammatory arthropathy despite immunosuppression should raise suspicion for camptodactyly-arthropathy-coxa vara-pericarditis.
Fever in neutropenia (FN) is a common complication in pediatric oncology patients receiving chemotherapy. These patients are usually treated as inpatients. Alternatively, under certain conditions, pediatric outpatient pa...Fever in neutropenia (FN) is a common complication in pediatric oncology patients receiving chemotherapy. These patients are usually treated as inpatients. Alternatively, under certain conditions, pediatric outpatient parenteral antibiotic therapy (pAPAT) may be an option.Literature search from PubMed and the Cochrane Library. Review of the included studies in a Summary of Findings table. Interpretation of the results by pediatric oncologists and infectious disease specialists.Twelve original studies involving 653 pAPAT courses were evaluated. pAPAT was used in stable patients in good general condition, with reliable adherence and accessibility (as outpatients), without a focus of infection and with negative blood cultures during the course of treatment. pAPAT was successfully completed in 75-95% of cases and was not inferior to inpatient treatment in comparative studies. There were no infection-associated deaths in the pAPAT group. The vast majority of patients and their families rated the pAPAT experience positively.The available studies are very heterogeneous in terms of definitions, risk stratification, selection of antibiotics, and the structural, organizational, and personnel processes involved in pAPAT. Taking these limitations into account, pAPAT after at least 24 hours of inpatient monitoring appears to be an effective and safe alternative to inpatient treatment for pediatric oncology patients with fever in neutropenia who display a low risk of severe complications.
Loss or gain-of-function mutations in signal transducer and transcription activator genes, classified as combined immunodeficiency, can present with highly heterogeneous and life-threatening clinical presentations. We re...Loss or gain-of-function mutations in signal transducer and transcription activator genes, classified as combined immunodeficiency, can present with highly heterogeneous and life-threatening clinical presentations. We report an adolescent girl who has combined immunodeficiency associated with signal transducer and activator of transcription 3 gain-of-function, c.1032G > C, p.Met344Ile located in exon 10, identified by a next-generation sequencing panel performed due to short stature, hepatosplenomegaly, and decreased levels of both immunoglobulin G and immunoglobulin M. At 12 years of age, the patient was referred to the pediatric hematology outpatient clinic owing to hepatosplenomegaly and pancytopenia after initiating growth hormone treatment due to short stature. On physical examination, bilateral multiple posterior and anterior cervical micro-lymphadenopathies were detected, her liver was palpated 6 cm below the costal margin, and her spleen was palpated 10 cm below the costalmargin. The whole blood count revealed a leukocyte count of 2,300/mm, neutrophils of 1,330/mm, lymphocytes of 730/mm, hemoglobin of 8 g/dL, platelets of 96,000/mm, and reticulocytes of 2%. The bone marrow biopsy revealed a cellularity of 30-35%. After steroid-dependent treatment resulted in Cushing syndrome and treatment with sirolimus was ineffective, treatment with ruxolitinib 20 mg twice daily significantly resolved cytopenias and hepatosplenomegaly due to autoimmune lymphoproliferative syndrome.
Survival in high-risk neuroblastoma has improved with multimodal treatment approaches and numerous studies have focused on treatment-related side effects. This study examines the prevalence, severity and risks of late ef...Survival in high-risk neuroblastoma has improved with multimodal treatment approaches and numerous studies have focused on treatment-related side effects. This study examines the prevalence, severity and risks of late effects following high-dose chemotherapy and autologous stem cell transplantation in high risk neuroblastoma patients.This study included high-risk neuroblastoma patients who underwent autologous stem cell transplantation and survived 5 years without relapse in a single center.Of the 41 patients who received high-dose chemotherapy and autologous stem cell transplantation, 20 patients survived without relapse for at least 5 years and were included in the analysis. Amid 20 patients, 12 patients (60%) were men. The median age of the patients was 13.5 years at the last follow up. After six cycles of induction chemotherapy, 11 patients (55%) received busulfan-melphalan as the consolidation regimen, while 9 patients (45%) received carboplatin-etoposide-melphalan. The median follow-up after transplantation was 9 years. At least one complication occurred in 19 out of 20 patients (95%). Severe late complications were observed in seven patients. Two patients developed treatment-related secondary neoplasms. In contrast to the literature, the most common adverse event was focal nodular hyperplasia (40%) in the liver. The second most common adverse event was ovarian failure (37.5%) and the third most common was hearing loss (35%). Endocrine pathologies were more common in patients receiving busulfan-melphalan as the consolidation regimen.This study highlights the future risks of side effects in high-risk neuroblastoma survivors and emphasizes the need for a long-term follow-up.
Adolph JE, Pentek C, Rink L
… +10 more, Held CJ, Della Marina A, Gangfuß A, Kölbel H, Dziobaka J, Rath PM, Verhasselt HL, Felderhoff-Müser U, Dohna-Schwake C, Goretzki SC
Malaria can cause severe complications including cerebral involvement and long-term neurocognitive impairment, especially in young children. Our study presents data on pediatric malaria cases with a focus on long-term ne...Malaria can cause severe complications including cerebral involvement and long-term neurocognitive impairment, especially in young children. Our study presents data on pediatric malaria cases with a focus on long-term neurological and neurocognitive outcomes following standardized treatment.This retrospective, single-centre study analyzed all pediatric malaria cases treated at our tertiary care hospital in 2023. Follow-ups included neurological examinations, standardized intelligence testing, electroencephalography, and cranial magnetic resonance imaging, with additional assessments provided as needed.Eleven patients (median age: 9.5 y) were included, with identified in 91% of cases. Eight (72.7%) patients were diagnosed with severe malaria. Artesunate was used as first-line therapy in 64% of patients. Residual neurological symptoms were observed in 82% of patients. Neurocognitive testing revealed deficits in 44% of the tested patients. Electroencephalographic abnormalities were noted in four patients; three patients developed epilepsies. Cranial magnetic resonance imaging findings included cytotoxic lesions of the corpus callosum and trigonal lesions in three patients. At 12 months, 77.8% of patients showed clinical improvement.Despite prompt, guideline-appropriate treatment, pediatric malaria patients in our cohort exhibited high rates of neurological sequelae requiring rehabilitative and pharmacological treatments. These findings highlight the need for a coordinated follow-up even in non-endemic countries.
The care and treatment of children and adolescents requiring long-term ventilation pursues several overarching goals and is ideally carried out through interdisciplinary collaboration within an experienced, multidiscipli...The care and treatment of children and adolescents requiring long-term ventilation pursues several overarching goals and is ideally carried out through interdisciplinary collaboration within an experienced, multidisciplinary team.In children and adolescents, neuromuscular diseases resulting in respiratory insufficiency are the primary cause of long-term dependence on a ventilator. In addition to the diseases that necessitate long-term ventilation, airway obstructions, trauma, malformations associated with genetic syndromes, and, rarely, insufficient secretion clearance or severe dysphagia with aspiration in spontaneously breathing patients are indications for tracheotomy. For many of these congenital diseases, the disease course and prognosis do not inherently suggest any potential for weaning or decannulation.Consequently, some of the measures and examinations required by the German Federal Joint Committee's (GBA) guidelines on outpatient intensive care may be unnecessary or even contraindicated in children and adolescents.
Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by poikiloderma, growth retardation, juvenile cataracts, congenital anomalies, and skeletal defects. Rothmund-Thomson syndrome type 2 i...Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by poikiloderma, growth retardation, juvenile cataracts, congenital anomalies, and skeletal defects. Rothmund-Thomson syndrome type 2 is caused by biallelic mutations in the gene, leading to DNA repair deficiency and cancer predisposition.We report six pediatric patients from three unrelated families carrying the same pathogenic variant associated with Rothmund-Thomson syndrome type 2. All patients exhibited poikiloderma, facial telangiectasia, skin atrophy, growth retardation, microcephaly, and learning difficulties. Trunk was spared. One patient had hearing loss; another was diagnosed after the appearance of facial lesions, following chronic diarrhea and malnutrition. Osteopenia and metaphyseal growth lines were common on radiographs. Rothmund-Thomson syndrome was diagnosed based on clinical and radiological features. sequencing revealed a homozygous pathogenic c.2415_2419del (p.Gly806_Arg807delinsTer) variant in four patients, and compound heterozygosity with the same variant and a novel pathogenic c.1663_1664del (p.Ser555GlyfsTer27) variant in two siblings.Rare DNA repair disorders should be considered in the differential diagnosis of genodermatoses, especially when accompanied by growth retardation and microcephaly. Our findings highlight the value of combining dermatological, radiological, and molecular assessments for accurate diagnosis and counseling. The recurrence of the same variant in unrelated families from one region suggests a founder effect.
Vitamin A is a fat-soluble micronutrient essential for normal embryonic development, cell differentiation, growth, vision, immunity and reproduction. The aim of this study was to evaluate the effect of vitamin A and reti...Vitamin A is a fat-soluble micronutrient essential for normal embryonic development, cell differentiation, growth, vision, immunity and reproduction. The aim of this study was to evaluate the effect of vitamin A and retinol-binding protein levels in cord blood of babies born at or below the 31 gestational week on respiratory distress syndrome, intraventricular haemorrhage, necrotising enterocolitis, retinopathy of prematurity and bronchopulmonary dysplasia and mortality.Babies born between 25 0/7 and 30 6/7 gestational weeks were included in the study between January 2021 and December 2022. Blood samples were obtained from the cord blood for retinol and retinol-binding protein levels.Sixty preterm infants born between 25 0/7 and 30 6/7 gestational weeks were included in this study. The mean vitamin A level was 244±140 µg/L and the mean retinol-binding protein level was 1.7±0.4 mg/dL. Among premature infants, 43% had low vitamin A levels and 38% had low retinol-binding protein levels. The retinol-binding protein level was found to be significantly lower in babies with retinopathy of prematurity compared with babies without retinopathy of prematurity (<0.05).In our study in which we investigated the effect of vitamin A and retinol-binding protein levels on morbidity and mortality in preterm infants, we showed that retinopathy of prematurity increased with low retinol-binding protein levels in cord blood. Further studies by evaluating the retinol-binding protein level together with the vitamin A level in the later days of life in response to vitamin A supplementation may more accurately show the effect of vitamin A on neonatal morbidities.
We report on an 8-week-old infant who presented as an outpatient due to abnormal skin color a few hours after surgical achillotomy under local anesthesia. The infant showed a dirty brownish, cyanotic skin color with redu...We report on an 8-week-old infant who presented as an outpatient due to abnormal skin color a few hours after surgical achillotomy under local anesthesia. The infant showed a dirty brownish, cyanotic skin color with reduced general condition and hypoxemia at SaO2 84% without improvement by oxygen supplementation. The blood gas analysis showed lactic acidosis and a significantly elevated methemoglobin level of 38% (reference value≤1.5%). Due to the temporal correlation, this is most likely due to the infiltration anesthesia with mepivacaine, which was performed for the achillotomy. Treatment with methylene blue was administered, resulting in a restitutio ad integrum.Methemoglobin is formed by the oxidation of iron contained in hemoglobin, which prevents oxygen from binding. Significant cyanosis can occur when the methemoglobin level exceeds 10%. The reduction of methemoglobin to oxyhemoglobin by the enzyme NADH cytochrome b5 reductase is physiologically not fully developed in young infants. Furthermore, the hemoglobin of young infants is more easily oxidized, which makes these children susceptible to methemoglobinaemia. As the methemoglobin content increases, the blood turns brown with increasing levels of methemoglobin, which is visible clinically and in blood samples.Local anesthetics applied cutaneously, subcutaneously or mucous membranes can cause clinically relevant methemoglobinemia, which can result in potentially severe hypoxemia. The risk is increased in young infants. It is important to recognize methemoglobinemia as the cause of cyanosis in time, as it is easily treatable.