Objective To analyze the clinical features and prognosis of hypertensive encephalopathy (HE) in children according to different potential causes. Methods The clinical data of children diagnosed with HE from January 1, 2011 to May 31, 2023 were retrospectively analyzed. According to the etiology, the children were divided into renal hypertension group and non-renal hypertension group, and the clinical features between the two groups were compared. Results A total of 24 children with HE (12 boys and 12 girls) were included, with a median age of 9.0 (7.0-12.0) years. The average systolic blood pressure was (167.1±21.4) mmHg, with a systolic pressure index of 1.5±0.2. The average diastolic blood pressure was (114.3±12.3) mmHg, with a diastolic pressure index of 1.6±0.2. The primary underlying diseases included nephrotic syndrome (3 cases), lupus nephritis (3 cases), IgA nephropathy (3 cases), and acute lymphoblastic leukemia (3 cases). Abnormalities on cranial MRI were observed in 21 children (87.5%), with 20 children showing typical lesions of posterior reversible encephalopathy syndrome (PRES) and 1 child exhibiting supratentorial hydrocephalus. Compared with the non-renal hypertension group, the renal hypertension group had a higher age, higher systolic blood pressure, higher systolic blood pressure index, higher diastolic blood pressure, higher neurological symptom score, higher incidence of nausea and vomiting, and higher incidence of epilepsy, as well as lower serum total protein and albumin levels, with statistically significant differences (P<0.05). The scores of neurological symptoms exhibited a significant positive correlation with age, systolic blood pressure, and systolic pressure index (P<0.01). The average follow-up duration for all children was (25.8±4.1) months. One child diagnosed with lupus nephritis experienced a decline in memory and calculation abilities within six months after the onset of HE. The remaining 23 children showed symptom relief following treatment with antiepileptic and antihypertensive medications, and no abnormal findings were noted during the follow-up period. Conclusions The clinical symptoms of children with renal hypertension are more severe than those of children with non-renal hypertension. Additionally, if children with renal hypertension experience sudden seizures, HE should be highly suspected, and timely antihypertensive treatment should be administered to improve the prognosis.

Objective To select inconsistent birth weight twins who were preterm, and evaluate the relationship between birth weight and neonatal complications. Methods Twins with inconsistent birth weights who were admitted to the neonatal intensive care unit (NICU) in three hospitals in Xinxiang City from January 2018 to May 2024 were selected, totaling 112 pairs. The twins with inconsistent birth weights were divided into a higher birth weight group (n=112) and a lower birth weight group (n=112). The incidence of complications such as neonatal respiratory distress syndrome (NRDS) and respiratory support in both groups were compared. Results The lower birth weight group had more small-for-gestational-age (SGA) infants compared to the higher birth weight group, with a statistically significant difference (P<0.001). The incidence of NRDS in the higher birth weight group was higher than in the lower birth weight group (P<0.05), while the incidence of bronchopulmonary dysplasia (BPD) was lower in the higher birth weight group compared to the lower birth weight group (P<0.05). Conclusion In twins with inconsistent birth weights, those with higher birth weights are more likely to develop NRDS, while those with lower birth weights are more likely to develop BPD.

Objective To investigate the clinical characteristics and management strategies of food-dependent exercise-induced anaphylaxis (FDEIA) in children. Methods A retrospective analysis was conducted on 8 pediatric patients diagnosed with FDEIA between August 2019 and August 2024. Clinical features, treatment outcomes, and atopic histories were reviewed. Results Among the 8 cases (2 males, 6 females; aged 9-14 years), 62.5% had a family history of allergies and 87.5% had personal atopic diseases (most commonly allergic rhinitis and urticaria). Trigger foods included wheat, vegetables, seafood, red meat, fruits, and sesame. The maximum interval between food intake and exercise was 3 hours, with symptom onset occurring 5-30 minutes post-exercise. All patients presented with cutaneous manifestations, while 75% developed combined respiratory-circulatory involvement (hypotension in 50%, syncope in 25%, hypoxemia in 12.5%). Management included intramuscular epinephrine in 87.5% of cases, with full recovery in all patients. Conclusion FDEIA in children is characterized by rapid progression and multi-system involvement. A history of recurrent reactions and atopic comorbidities, combined with total serum IgE elevation (median 65.6-2172 kU/L) and specific IgE positivity (62.5%), aids diagnosis. Early epinephrine administration is critical for favorable outcomes.

Objective To investigate the application value and effect of single balloon enteroscopy (SBE) in long-term follow-up of small intestinal polyps in patients with Peutz-Jeghers syndrome (PJS). Methods The clinical data of 10 patients with PJS who were admitted to the Gastroenterology Department of Xinhua Hospital from January 2011 to June 2024 and received long-term follow-up with SBE were retrospectively analyzed. Results Among the 10 children with PJS, there were 7 boys and 3 girls. The median age at diagnosis of PJS was 9.5 (6-16) years. The median follow-up time was 132 (95-137) months, and the median follow-up interval was 17.3 months. A total of 46 SBE examinations were performed (29 via mouth and 17 via anus), and 157 polyps were treated. The median number of polyps >15 mm in diameter treated in each patient was 7 (1-13). After SBE follow-up treatment, the abdominal symptoms and anemia of the patients were significantly improved. During the follow-up period, only 1 patient needed surgery due to intussusception, which may be related to the long follow-up interval and irregular follow-up. Postoperative sore throat was found in all patients with transoral enteroscopy (100%). Abdominal distension after SBE was observed in 8 cases (17.4%). Perforation occurred in 1 case (2.2%) and improved after conservative medical treatment. Conclusions Long-term regular follow-up and preventive resection of small intestinal polyps with SBE in PJS patients is a safe and effective method, which is of great significance for improving abdominal symptoms and reducing the risk of intussusception and surgery.

Objective To summarize the clinical features, puberty development, gonadal neoplasia and prognosis of 15 children with 45, X/46, XY disorders of sex development (DSD) presenting Turner syndrome phenotype. Methods The clinical data of 15 children with 45, X/46, XY DSD presenting Turner syndrome phenotype in Henan Children's Hospital from January 2012 to January 2023 were retrospectively analyzed. Results All the 15 patients presented with the female phenotype and had growth retardation. They had typical clinical signs of Turner syndrome, such as neck web and cubitus valgus. Spontaneous breast development occurred in 3 patients, spontaneous menarche occurred in 1 patient, and gonadal dysgenesis eventually occurred in all patients. The Y chromosome mosaicism rate was 5%-85%. SRY gene detection was performed in 10 patients, and all of them were positive. Pathological examination of 7 patients after gonadectomy revealed gonadal tumors in 3 patients (1 case of unilateral gonadoblastoma, 1 case of dysgerminoma, and 1 case of insitu germ cell tumor). One case of insitu germ cell tumor was malignant at the time of diagnosis, and the age of diagnosis was 4.3 years. Conclusions Patients with 45, X/46, XY DSD may exhibit clinical features reminiscent of Turner syndrome. They have a higher incidence and risk of malignant transformation of gonadal tumors, and this transformation tends to occur at a younger age. This should be given full attention in clinical practice, and the necessity of surgical intervention should be evaluated promptly.

Objective To retrospectively analyze the clinical diagnosis and treatment processes of children with retinitis pigmentosa, with or without skeletal abnormalities syndrome (RPSKA), and to explore the clinical and genetic characteristics of the disease. Methods The clinical characteristics of one case of RPSKA child and the genetic variations between the child and her mother were analyzed. The effect of the mutation on mRNA splicing was verified and the protein stability was detected. The relevant literature was reviewed and summarized. Results The patient is an 8-year-old girl with short stature(-2.28SD), special face(triangular face, left esotropia, low ear position), and severe intellectual disability (Wechsler intelligence scale for children 37 points). She was diagnosed with retinitis pigmentosa at the age of 3. Whole exome sequencing indicated that the patient carried homozygous splice site variation of CWC27 c.397-1G>A. The splicing mutation produced three kinds of abnormal transcripts. The protein stability of all transcripts decreased obviously. Both of them proved that the mutation is pathogenic. Combined with the clinical phenotype of this patient, she was diagnosed with RPSKA. A total of 17 cases of RPSKA have been reported globally, including this case, there are now 18 documented cases. Conclusions RPSKA caused by CWC27 splicing site mutations typically affects multiple systems. It should be vigilant when encountering patients with retinitis pigmentosa, short stature, intellectual disability, and craniofacial malformations. Genetic testing plays a critical role in achieving a definitive diagnosis.

Objective To adapt the Tampa Scale for Kinesiophobia for use in pediatric populations with heart disease and evaluate its reliability and validity as a tool for assessing fear of exercise in this population. Methods The scale was revised based on surveys of children with heart disease, expert consultations, and preliminary surveys. From January to July 2024, the revised scale was administered to 294 children aged 7-18 years with heart disease using a convenience sampling method. Results The final scale comprised 11 items. Exploratory factor analysis extracted two factors, labeled " fear of exercise " and " avoidance tendency," which accounted for a cumulative variance of 51.241%. The overall Cronbach’s α coefficient was 0.820, and the split-half reliability was 0.782. For the subdimensions, Cronbach’s α coefficients were 0.811 and 0.820, with split-half reliabilities of 0.772 and 0.830. Conclusion The Kinesiophobia scale for children with heart disease demonstrates strong psychometric properties and is a reliable and valid tool for evaluating exercise-related fear in children aged 7-18 years with heart disease.

To collect and analyze the clinical phenotypes and genotypes characteristics of two pediatric patients with Cockayne syndrome (CS). Peripheral blood was collected. Whole exome sequencing of a family of three was performed for the proband 1’s family, and targeted next-generation sequencing of the skin panel was carried out for proband 2 alone. Family verification of the variant sites was conducted by Sanger sequencing. Peripheral blood RNA of proband 1 was extracted, reverse-transcribed into cDNA, and then the splicing mutation was verified by Sanger sequencing. Proband 1 carried compound heterozygous mutations of ERCC5 (NM_000123.4) c.381-2A>G and c.403dup (T135NfsX28). Proband 2 carried a homozygous nonsense mutation of ERCC6 (NM_000124) c.643G>T (p.E215X). The mutations of c.381-2A>Gand c.403dup (T135NfsX28) in the ERCC5 gene have not been reported previously. The verification of the splicing mutation revealed that c.403dup was a homozygous mutant type. Therefore, it is speculated that the splicing mutation and the duplication mutation are not on the same haplotype. The splicing mutation affects splicing, and the generated mutant leads to the degradation of mRNA. For rare lethal and disabling diseases such as Cockayne syndrome, early diagnosis and early intervention should be carried out. The reports of genotypes and clinical phenotypes are crucial for guiding the prognosis.

A male infant, aged 1 month and 24 days, was diagnosed with immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA). Whole-exome gene sequencing revealed compound heterozygous mutations of LRBA, confirming a diagnosis of LRBA deficiency with an ALPS-like phenotype. Despite treatments with corticosteroids, neonatal-like exchange transfusions, rituximab, and sirolimus, the ALPS-like symptoms persisted and were complicated by pulmonary infection and cytomegalovirus viremia. At 3 months of age, the patient underwent haploidentical hematopoietic stem cell transplantation (HSCT) using bone marrow from his father. Post-transplantation, successful engraftment of platelets and granulocytes was achieved, infections were controlled, and no severe complications occurred. Three months after transplantation, the infant developed grade Ⅱ skin graft-versus-host disease (GVHD), which resolved completely following treatment. Currently, more than 8 months after transplantation, the patient remains healthy with normalized immune function and no recurrence of the ALPS-like phenotype. This article retrospectively analyzed a case of a young patient with LRBA deficiency and an ALPS-like phenotype, evaluating the efficacy and safety of HSCT using bone marrow-derived hematopoietic stem cells from a haploidentical father. The study indicates that for children unresponsive to first-line treatments, HSCT should be considered as early as possible. In the absence of a fully matched donor, haploidentical donors and bone marrow-derived stem cells represent viable options that may enhance engraftment, reduce GVHD and infection risks, and improve transplantation outcomes. Further studies are required to optimize the treatment protocol and improve prognosis.

Objective To review the clinical features and genetic test results of a case of Shwachman-Diamond syndrome caused by SBDS gene mutation but misdiagnosed as idiopathic short stature. Methods Clinical data, laboratory and imaging results and genetic data were collected and followed up. Results The patient was a boy aged 10 years and 11 months. Clinical manifestations included short stature, anemia and thrombocytopenia were indicated by laboratory examination, and the peak value of growth hormone stimulation test was 31 μg/L. Trio whole-exome sequencing revealed the presence of c.258+2T>C and c.286T>C complex heterozygous mutation, inherited from the proband's mother and father respectively; His younger brother also carried the same SBDS gene complex heterozygous mutations and exhibited similar clinical features, including short stature, anemia, thrombocytopenia, and leukopenia. Notably, the c.286T>C has not been previously reported in the literature and represents a novel mutation site. Growth hormone treatment for half a year, the height increased by 2.1cm, indicating poor therapeutic efficacy. Regular outpatient follow-up shows that there is still anemia and thrombocytopenia. Conclusion presenting with short stature complicated by bone marrow failure should be evaluated for Shwachman-Diamond syndrome, and genetic examination should be improved. The c.286T>C mutation identified in this case is a novel mutation site. In this instance, growth hormone therapy proved ineffective.

Juvenile idiopathic arthritis-associated uveitis (JIA-U) is a prevalent non-infectious autoimmune uveitis among children under the age of 16. The principal pathogenesis lies in the interaction between genetic and environmental factors, resulting in autoimmune dysregulation within the body. Under the collective influence of these factors, the autoimmune response in JIA patients may disrupt peripheral immune tolerance and the blood-retinal barrier, leading to the infiltration of T and B cells and their subsets into the ocular tissues of patients. Through reacting to specific retinal antigens, the production of highly specific autoantibodies, and secreting cytokines such as tumor necrosis factor α (TNF-α) and interleukin 6 (IL-6), it promotes the occurrence and progression of ocular tissue inflammation, and in severe cases, poses a threat to the patient's vision. The initial treatment for JIA-U is based on a stepwise strategy, with corticosteroids as the first-line drug, combined with methotrexate (MTX) for steroid-reduced systemic therapy. For patients intolerant to MTX or with suboptimal therapeutic responses, or those presenting with severe vision-threatening complications, biological disease-modifying antirheumatic drugs (bDMARDs) can be added or substituted. TNF-α inhibitors, IL-6 receptor inhibitors, and Janus kinase inhibitors are commonly utilized bDMARDs for refractory JIA-U or patients unresponsive to MTX. Additionally, T-cell co-stimulation modulators and anti-CD20 monoclonal antibodies may also prove effective for refractory JIA-U or patients unresponsive to MTX. Future studies are requisite to further investigate the mechanism of action, safety, and efficacy of these biological agents in JIA-U, in order to provide more effective therapeutic references.

Pertussis is highly contagious. With the increase in the incidence rate of pertussis in recent years, pertussis outbreaks have even occurred in some areas. The recurrence of pertussis has attracted widespread attention, among which severe pertussis poses a great threat to the life and health of infants and young children. Elevated white blood cell count, pulmonary hypertension, non-vaccination and mixed infection are all associated with severe pertussis. Due to the lack of typical clinical symptoms and signs in infants and young children in the early stage, they often fail to receive timely diagnosis and treatment, which can easily lead to severe pertussis. Therefore, it is crucial to make an accurate diagnosis and provide timely treatment for pertussis. This article reviews the pathogenesis, treatment and prevention of severe pertussis in infants and young children, in order to deepen the clinician's understanding of severe pertussis and provide reference for the prevention and treatment of severe pertussis.

Palliative care, as an effective method to improve the quality of life of cancer patients and their families, is still in the ice-breaking stage among children and adolescent patients in China. Currently, the percentage of pediatric and adolescent patients receiving palliative care remains low. There is still a lack of effective integration of previous research applications on end-of-life care methods for children with malignant tumors in children. Clear intervention standards are yet to be established, or unified guidelines for palliative care corresponding to children at different stages of disease progression. This article meticulously and comprehensively outlines the origins and evolution of palliative medicine within pediatrics, exploring how palliative care enhances the quality of life for pediatric oncology patients, streamlines communication and decision-making processes, and diminishes hospitalization expenses, as well as briefly outlining the barriers to the practical implementation of palliative care in children with oncology. This paper can provide some reference for the development and implementation of palliative care in China, and provide a reference for the in-depth implementation of palliative care for children with cancer.

The field of autoimmune epilepsy has progressed tremendously in recent decades with the discovery of a wide range of neuronal antibodies and the increasing understanding of the pathogenesis of various immune-mediated syndromes. A significant proportion of patients with epilepsy of unknown etiology have been shown to be caused by autoimmunity. Pediatric autoimmune epilepsy is often secondary to autoimmune encephalitis. Its clinical manifestations are diverse, with seizures being the primary symptom. It is frequently accompanied by cognitive impairment, sleep disturbances, speech disorders, and neuropsychiatric symptoms. Diagnosis is usually based on clinical features, MRI findings, and cerebrospinal fluid analysis, and testing for neurospecific antibodies is an important part of the diagnosis. Treatment includes immunotherapy, removal of immune triggers and symptomatic treatment with antiepileptic drugs. Early initiation of immunotherapy can be effective in controlling seizure frequency and improving cognition.