Translational pediatrics最新文献

Background: Pediatric intracranial aneurysms account for 5% of all aneurysms and less than 10% of all aneurysms cause non-traumatic intracranial hemorrhage in children. They are most commonly secondary to trauma, infection, or genetic etiologies; however, case reports have described iatrogenic intracranial aneurysms. We describe a case of a ruptured aneurysm with an associated intracranial hematoma that was treated by surgical clipping and clot evacuation.

Case description: The patient was a 15-month-old boy without a history of trauma or infection, who developed acute-onset nausea and subsequent neurological deterioration and status epilepticus. Imaging demonstrated a 13-mm saccular anterior cerebral artery aneurysm with accompanying large left frontal intraparenchymal hematoma and intraventricular hemorrhage. He was treated with urgent craniotomy for surgical clipping and clot evacuation. An external ventricular drain was placed to treat the hydrocephalus. The patient subsequently received a ventriculoperitoneal shunt with rehabilitation disposition. There was a family history of intracranial aneurysms and cavernous malformations; however, genetic testing was negative. One year later, he is developing his speech and has ambulated independently.

Conclusions: We highlight the importance of expeditious care in toddlers with rapidly deteriorating neurological examination results and associated intracranial findings. We demonstrate the rarity of intracranial aneurysms in a toddler and the need for further study on this topic, as there is no clear etiology for this finding in this patient.

Background: The coronavirus disease 2019 (COVID-19) pandemic has caused a persistent lowering of Mycoplasma pneumoniae (M. pneumoniae), which is commonly found in children with respiratory tract infections (RTIs). However, in 2023, we observed an unusually high number of M. pneumoniae infections among children from Tianjin, the second largest city in northern China. This study sought to analyze the epidemiological characteristics of children with RTIs caused by M. pneumoniae in northern China post COVID-19, in order to provide a theoretical basis for clinical diagnosis and treatment.

Methods: Between January 2019 and December 2023, a total of 78,886 children with respiratory infections from General Hospital of Tianjin Medical University were included in this study. A rapid immunochromatographic assay kit was used to test for M. pneumoniae specific immunoglobulin M (IgM) in these patients. The relevant clinical data of M. pneumoniae-positive cases were also collected, and analyzed by SPSS software.

Results: Out of the 78,886 samples collected, a total of 11,268 tested positive for M. pneumoniae specific-IgM antibody. The average positive rate was 14.3% in the past 5 years. In the year 2023 alone, there were 5,870 M. Pneumoniae positive cases, surpassing the combined count from the previous 4 years. The incidence of M. pneumoniae had significantly surged since September 2023, peaking at 1,717 cases in November 2023, with a notable surge during the fourth quarter. The prevalence of M. pneumoniae infection was primarily observed among children aged 4-6 years and 7-9 years both before and during the COVID-19 pandemic; however, a noticeable increase was observed among children aged 10-14 years after the pandemic ended. Boys exhibited a lower positive rate (13.19%) compared to girls (15.56%). In addition, the proportion of pneumonia cases in 2023 was significantly higher than that in previous years (P<0.001).

Conclusions: Our study revealed that following a prolonged global lowering of M. pneumoniae since the COVID-19 pandemic, a significant outbreak had emerged in northern China since September 2023. The proportion of M. pneumoniae positive children in the older age group increased in 2023 compared to that observed in 2019. Additionally, there was an increase in the proportion of pneumonia among M. pneumoniae positive cases in 2023 compared to the pre-COVID-19 pandemic period.

Background: Mismatch repair (MMR) deficiency can lead to constitutional mismatch repair deficiency (CMMRD) syndrome and Lynch syndrome (LS). These two genetic disorders are associated with a broad spectrum of tumor types, including a variety of brain tumors. Usually, tumors associated with LS are more common in adults and rarely occur in children. The characterizations of café-au-lait macules (CALMs) are relatively similar in CMMRD syndrome and neurofibromatosis type 1 (NF1), which often causes difficulties in the diagnosis of CMMRD syndrome.

Case description: We identified five patients with MMR gene germline mutations and tumors from the University of Hong Kong - Shenzhen Hospital (four cases) and Hong Kong Children's Hospital (one case) within a 2-year period (June 2021 to June 2023). The clinical features of these patients were reviewed and compared with those detailed in the literature. Of the four patients with CMMRD syndrome, two had medulloblastomas, one had low-grade glioma, and one had desmoid fibromatosis. The only LS patient was diagnosed with medulloblastoma at the age of 10. In terms of the gene mutations of the CMMRD syndrome patients, two had the MSH6 mutation (one of whom had the de novo mutation), one patient had the MLH1 mutation, and no known genetic mutation was detected in the other patient. The LS patient had the MSH2 mutation. Three of the four CMMRD syndrome (75%) patients and the one LS patient had a positive family history of malignancy. Currently, the origin and mechanism of de novo mutations in the MMR gene that cause CMMRD syndrome and LS remain elusive. In this study, all the four CMMRD syndrome patients had CALMs since birth, but no further follow up or clinical surveillance was performed until their tumors developed. We summarized several CALM-related genetic syndromes and highlighted their differences in terms of the clinical features. This could facilitate the differentiation of the different types of CALM-associated hereditary syndromes and help to reduce delays in diagnosis.

Conclusions: More than half of CMMRD syndrome and LS patients have no family history of cancer; thus, the absence of a positive family history does not rule out CMMRD syndrome and LS. A better diagnostic approach is to perform genetic testing to rule out the risk as early as possible when a newborn presents with cafe-au-lait spots, which are a typical feature of hereditary syndromes. Therefore, it is important to use germline genetic testing, combined with clinical phenotypic observation, to establish a diagnosis of a cancer susceptibility syndrome caused by an MMR gene mutation.

Background: Infants with small for gestational age (SGA) have an increased risk of short and long-term health outcomes, with potentially modifiable risk factors. This study aims to determine the prenatal risk factors associated SGA and evaluate the clinical management of affected infants.

Methods: An observational retrospective study of medical records of infants born at Nepean Hospital and discharged with a diagnosis of SGA over 5 years (1^st January 2015 to 31^st December 2019). Data included demographic details, antenatal care, maternal risk factors and clinical management of the infants.

Results: Six hundred and seven infants had a discharge diagnosis of SGA, from 20,392 infants born. Of the 607 infants identified, 487 (80%) had SGA, 97 (16%) had asymmetrical SGA, 175 (29%) had symmetrical SGA, and 50 (8%) were incorrectly diagnosed with SGA based on growth measurements taken at birth. The most prevalent maternal risk factors were the presence of chronic disease (n=402, 66.23%), current smoking (n=159, 26.19%), social work input (n=108, 17.79%), gestational diabetes mellitus (n=96, 15.82%) and Aboriginal background (n=73, 12.03%). Prenatal genetic testing was conducted in 89.62% (n=544); 58.81% (n=357) had placental abnormalities; 36.57% (n=222) were recommended follow-up with a general practitioner (GP) and paediatrician, and 21.09% (n=128) were recommended a combination of midwifery in the home (MITH), GP, and paediatric follow-up. Two infants were recorded with no follow-up.

Conclusions: Diagnostic inaccuracies were found in infants with SGA. More intensive antenatal care for women with risk factors for SGA might improve the health of those with chronic disease; support for smoking cessation could also be offered.

Background and objective: Childhood is a crucial period for the formation of an individual's attachment type. Previous studies focused more on how to directly intervene in children's mental health problems such as depression, and less on how to improve children's mental health from the perspective of attachment relationship. Secure base, as one of the core concepts of attachment theory, plays an important role in the whole process of children's psychological development. In this article, we review the concept of the secure base, describe current clinical practice and suggest future directions.

Methods: A literature search was performed within electronic databases such as Web of Science, PubMed, and CNKI. Chinese and English articles focusing on the secure base and attachment relationship among children were retrieved. Their publication dates were set from the inception of the database to August 6, 2024.

Key content and findings: While the secure base significantly impacts early childhood, a safe base may also be established through group and teacher-student relationships to activate individual secure attachment schemas. Most prior studies concentrated on the mother-child bond, with limited exploration of the father's role in the family dynamic. Furthermore, children's secure attachment development is not only influenced by parents' secure base script knowledge (SBSK) but also by intergenerational transmission. The underlying structure of secure base scripting knowledge plays a distinct role in middle childhood mental health.

Conclusions: The mechanism by which family structure, the functional division of family roles, and the potential structure of safe-base script knowledge influence children's secure attachment development at various stages warrants further elucidation, including investigating cross-gender and cross-cultural stability. To facilitate the development of children's secure attachment pathways, it is essential to consider different attachment styles within parents and diverse family structures (including those in lesbian, gay, bisexual). From a clinical psychotherapy perspective, this review offered novel insights and practical guidance on how the secure base mechanism impacts children's mental health, with the overarching goal of mitigating the risk of mental health problems.

Background: There is an array of surgical modalities available to treat neonatal intestinal obstruction, but there is no consensus on the optimal method. The study aims to evaluate the therapeutic efficacy of ostomy in continuity (OIC), providing a reference for surgeons to determine the appropriate surgical approach.

Methods: The study involved a retrospective analysis of the clinical data of 46 neonates with intestinal obstruction hospitalized between June 2019 and February 2024. The types of intestinal injuries included in the study comprised atresia, necrotizing enterocolitis (NEC), meconium ileus and volvulus. Based on their surgical procedures, patients were divided into the OIC group and the control group. General information, as well as perioperative and postoperative complications, were compared between the two groups.

Results: There were 18 patients underwent OIC, and 28 patients underwent double-barrel or single-barrel enterostomies. There were no statistically significant differences between patients in the two groups in terms of general information, duration of the ostomy surgery (P=0.66), bleeding volume (P=0.25), length of post-ostomy hospital stay (P=0.08), and time to first defecation after surgery (P=0.23). Compared to the control group, neonates in the OIC group had a shorter duration of parenteral nutrition (P=0.02), a shorter interval between stoma creation and closure surgeries (P=0.02), a shorter duration of stoma closure surgery (P<0.001), and fewer postoperative complications (P<0.001). The weight-for-age Z-score before the stoma closure surgery was better in the OIC group than the control group (P=0.01).

Conclusions: In this study, we found that OIC, as a treatment for neonatal intestinal obstruction, was effective in maintaining intestinal continuity, improving the nutritional status of neonates, and shortening the interval between the stoma creation and closure surgeries.

Background: The severity of Mycoplasma pneumoniae pneumonia (MPP) is strongly correlated with the extent of the host's immune-inflammatory response. In order to diagnose the severity of MPP early, this study sought to explore the predictive value of immune-related parameters in severe MPP (sMPP) in admitted children.

Methods: We performed a database analysis consisting of patients diagnosed at our medical centers with MPP between 2021 and 2023. We included pediatric patients and examined the association between complete blood cell count (CBC), lymphocyte subsets and the severity of MPP. Binary logistic regression was performed to identify the independent risk factors of sMPP. Receiver operating characteristic (ROC) curves were used to estimate discriminant ability.

Results: A total of 245 MPP patients were included in the study, with 131 males and 114 females, median aged 6.0 [interquartile range (IQR), 4.0-8.0] years, predominantly located in 2023, and accounted for 64.5%. Among them, 79 pediatric patients were diagnosed as sMPP. The parameters of CBC including white blood cell (WBC) counts, neutrophil counts, monocyte counts, platelet counts, and neutrophil-to-lymphocyte ratio (NLR), were higher in the sMPP group (all P<0.05). The parameters of lymphocyte subsets including CD3⁺ T cell ratio (CD3⁺%) and CD3⁺CD8⁺ T cell ratio (CD3⁺CD8⁺%), were lower in the sMPP group (all P<0.05). And CD3^-CD19⁺ B cell ratio (CD3^-CD19⁺%) was higher in the sMPP group. Logistic regression analysis showed that age, CD3^-CD19⁺%, and monocyte counts were identified as independent risk factors for the development of sMPP (all P<0.001). The three factors were applied in constructing a prediction model that was tested with 0.715 of the area under the ROC curve (AUC). The AUC of the prediction model for children aged ≤5 years was 0.823 and for children aged >5 years was 0.693.

Conclusions: The predictive model formulated by age, CD3^-CD19⁺%, and monocyte counts may play an important role in the early diagnosis of sMPP in admitted children, especially in children aged ≤5 years.