Safety and efficacy of peripheral blood stem cells collection in healthy children and pediatric patients with thalassemia major weighing 20 kg or less.

BACKGROUND: Peripheral blood stem cell (PBSC) collection in children poses challenges due to their small size, low body weight (BW), and unique pediatric physiology, especially among children weighing 20 kg (kg) or less. METHODS: PBSC collection data of both healthy children and patients with thalassemia major (TM) weighing 20 kg or less between January 2013 and December 2020 were reviewed. Moreover, PBSCs characteristics along with various aspects of efficiency and safety between healthy donors and patients with TM were compared. RESULTS: A total of 262 PBSC procedures were performed on 255 children. Of these, 91 procedures were carried out on 85 allogeneic healthy donors, and 171 auto-backup collections were performed on 170 patients with TM to ensure PBSC availability and prevent transplantation failure. A minimum pre-apheresis hemoglobin (HGB) level of 60 g/L was discovered to be safe and feasible in patients with TM. The median CD34+ cell dose in the PBSC product during the initial apheresis procedure was higher in healthy donors compared to patients with TM (7.29 ± 5.28 × 106 cells/kg vs5.88 ± 4.23 × 106 cells/kg, P = .043). The total CD34+ cells/kg recipient weight exhibited a positive correlation with pre-apheresis monocyte counts, but a negative correlation with donor weight. Apheresis significantly reduced hematocrit and platelet counts in the allogeneic group compared to the autologous group. Patients with TM experienced a higher occurrence of bone pain related to granulocyte colony-stimulating factor treatment. Notably, no serious complications related to PBSCs mobilization, central venous catheter placement, or the apheresis procedure were observed in either group. CONCLUSIONS: PBSCs collection was both safe and effective in healthy children and pediatric patients with TM weighing 20 kg or less.

[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis].

α-thalassemia is a type of microcytic hypochromic anemia caused by variants of alpha-globin gene, and is one of the most common monogenic disorders in southern China. The population screening model based on hematologic phenotype has achieved great results in areas with high incidence of thalassemia. However, with the continuous decline of the cost of genetic testing and implementation of screening programs for thalassemia gene carriers, more variants in the alpha-globin gene have been discovered, which also brings great challenges to clinical genetic counseling. From the perspective of alpha-globin genetic analysis, this consensus has discussed the contents of pre- and post-test genetic counseling, with an aim to provide standardized guidance for clinicians.

Impact of genomic and epigenomic alterations of multigene on a multicancer pedigree.

BACKGROUND: Germline mutations have been identified in a small number of hereditary cancers, but the genetic predisposition for many familial cancers remains to be elucidated. METHODS: This study identified a Chinese pedigree that presented different cancers (breast cancer, BRCA; adenocarcinoma of the esophagogastric junction, AEG; and B-cell acute lymphoblastic leukemia, B-ALL) in each of the three generations. Whole-genome sequencing and whole-exome sequencing were performed on peripheral blood or bone marrow and cancer biopsy samples. Whole-genome bisulfite sequencing was conducted on the monozygotic twin brothers, one of whom developed B-ALL. RESULTS: According to the ACMG guidelines, bioinformatic analysis of the genome sequencing revealed 20 germline mutations, particularly mutations in the DNAH11 (c.9463G > A) and CFH (c.2314G > A) genes that were documented in the COSMIC database and validated by Sanger sequencing. Forty-one common somatic mutated genes were identified in the cancer samples, displaying the same type of single nucleotide substitution Signature 5. Meanwhile, hypomethylation of PLEK2, MRAS, and RXRA as well as hypermethylation of CpG island associated with WT1 was shown in the twin with B-ALL. CONCLUSIONS: These findings reveal genomic alterations in a pedigree with multiple cancers. Mutations found in the DNAH11, CFH genes, and other genes predispose to malignancies in this family. Dysregulated methylation of WT1, PLEK2, MRAS, and RXRA in the twin with B-ALL increases cancer susceptibility. The similarity of the somatic genetic changes among the three cancers indicates a hereditary impact on the pedigree. These familial cancers with germline and somatic mutations, as well as epigenomic alterations, represent a common molecular basis for many multiple cancer pedigrees.

Computed tomography with clinical scoring to differentiate phytobezoar from feces in childhood small bowel obstruction.

BACKGROUND: Identification of phytobezoar in childhood small bowel obstruction (SBO) characterized by smallbowel feces sign (SBFS) is still challenging. The aim of our study was to assess the diagnostic performance of quantitative computed tomography (CT) analysis combined with the Acute General Emergency Surgical Severity-Small Bowel Obstruction (AGESS-SBO) scoring system in determining phytobezoar-related SBO. METHODS: Sixteen phytobezoar-related SBO were categorized as the phytobezoar group and the other 19 SBFSpositive SBO was categorized as the control group. Demographic data, clinical presentation, and laboratory and CT findings were collected and analyzed. Each patient`s AGESS-SBO score was determined according to the individual medical record. Multivariate logistic regression analyses were used to identify significant variables associated with phytobezoar-related SBO. Diagnostic performance of key variables was assessed using receiver operating characteristic (ROC) curve analysis. RESULTS: Compared to the control group, the phytobezoar group showed a significantly shorter debris maximal length (3.0 ± 0.5 cm vs. 3.5 ± 0.7 cm, P < 0.05), stronger attenuation (12.6 ± 5.9 HU vs. 8.2 ± 4.0 HU, P < 0.05) in CT, and higher AGESS-SBO scores (4.5 [interquartile (IQR): 4-5]) vs. (2 [IQR: 1-4]). With the combination of debris attenuation (with a cut-off of > 9.0 HU) and AGESS-SBO score (with a cut-off of > 3 points), the positive predictive value (PPV) and negative predictive value (NPV) to diagnose phytobezoar-related SBO were 80% (12/15) and 84% (16/19), respectively. CONCLUSIONS: The diagnostic method of integrating quantitative CT analysis and the AGESS-SBO scoring system can improve the identification accuracy of phytobezoar in SBFS-positive childhood SBO.

Necrosis tisular local y trombocitopenia después de una intoxicación por mordedura de Bungarus multicinctusen una niña / Local tissue necrosis and thrombocytopenia following Bungarus multicinctus envenomation in a child

La intoxicación por mordedura de serpiente es un problema de salud pública global. En la población pediátrica, la intoxicación por mordedura de serpiente presenta características diferentes que en los pacientes adultos. La Bungarus multicinctus es una especie de elápido sumamente venenoso. Las presentaciones clínicas documentadas después de la intoxicación por mordedura de Bungarus multicinctus son reacciones locales mínimas, insuficiencia respiratoria, dolor generalizado e hiponatremia potencialmente mortal. Presentamos el caso de una intoxicación por mordedura de Bungarus multicinctus en una niña con manifestaciones clínicas atípicas, incluidas necrosis tisular grave y trombocitopenia con coagulopatía.

Snakebite envenoming is a global public health problem. The pediatric population poisoned by snakebite envenoming has different features than adult patients. Bungarus multicinctus is a highly venomous species of the elapid snake. The documented clinical presentations following Bungarus multicinctus envenoming are minimal local reactions, respiratory failure, general pain, and life-threatening hyponatremia. We present an uncommon case of Bungarus multicinctus envenomation in a girl with unusual clinical findings, including severe tissue necrosis and thrombocytopenia with coagulopathy.

Apendicolito: factor explícito que ocasiona apendicitis complicada en la niñez / Appendicolith: an explicit factor leading to complicated appendicitis in childhood

Objetivos. El objetivo de este estudio fue evaluar el riesgo clínico de la apendicitis con apendicolito y su importancia al elegir las estrategias terapéuticas.Métodos. Se analizó retrospectivamente a niños con diagnóstico de apendicitis aguda entre junio de 2011 y enero de 2017. Se dividió en un grupo con apendicolito(GA) y un grupo sin apendicolito (GSA) según la presencia o no de apendicolito durante la cirugía abierta. Se revisaron y compararon la presentación clínica, de laboratorios, los resultados de la tomografía computada y los cambios patológicos.Resultados. De 163 pacientes, se incluyó a 23 (media de edad: 6,1 años) en el GA y a 140 (media de edad: 8,1 años) en el GSA. Los pacientes en el GA tuvieron una hospitalización más extensa, mayor temperatura corporal, mayor frecuencia de diarrea, signo de Blumberg, aumento del porcentaje de neutrófilos, proteína C-reactiva y mayor riesgo de perforación. La puntuación en las escalas de Alvarado (8,3 ± 1,2 frente a 7,0 ± 1,3; P < 0,05) y de respuesta inflamatoria a apendicitis (10,7 ± 1,6 frente a 7,7 ± 1,9; P < 0,05) fue mayor en el GA que en el GSA; la presencia de fiebre y apendicolito se asoció con una mayor tasa de apendicitis perforada.Conclusiones. La apendicitis pediátrica con apendicolito representa un mayor riesgo clínico y tiende a causar apendicitis complicada

Objectives. This study aims to assess the clinical risk of pediatric appendicitis with appendicolith and its guiding significance in therapeutic strategies' selection.Methods. Children diagnosed with acute appendicitis from June 2011-January 2017 were analyzed retrospectively. Patient cohort was divided to appendicolith group (AG) and non- appendicolith group (NAG) based on whether the appendicolith presents or not in the open surgery. Clinical presentations, laboratory parameters, computed tomography findings, and pathological changes were reviewed and compared between two groups. Results. Among 163 patients, 23 (meanage,6.1yearsold)weredefinedin AG and 140; mean age, 8.1 years old) in NAG. The patients in AG demonstrated prolonged length of stay (12.4 ± 5.6d vs. 8.7 ± 5.0d, P <0.05), higher body temperature (38.2 ± 0.8 °C vs. 37.3 ± 0.8 °C, P <0.05), higher frequency of diarrhea (17 % vs. 3%, P <0.05), rebound tenderness (100 % vs. 87 %, P <0.05), increased neutrophil percentage (81.4 ± 8.0 % vs. 65.3 ± 22.8 %, P <0.05), C-reactive protein (33.13 ± 10.3 mg/L vs. 23.7 ± 13.7 mg/L, P <0.05), and great risk of perforation (78 % vs. 29 %, P <0.05). Alvarado score (8.3 ± 1.2 vs. 7.0 ± 1.3, P <0.05) and AIR score (10.7 ± 1.6 vs. 7.7 ± 1.9, P <0.05) of AG, were higher than NAG he presence of fever and appendicolith was associated with a high rate of perforated appendicitis.Conclusions. Pediatric appendicitis with appendicolith has greater clinical risk and tends to causing complicated appendicitis

Quiste pulmonar congénito gigante que imita neumotórax a tensión en un niño / Huge congenital cystic lung lesion mimicking tension pneumothorax in a child

El tratamiento de los lactantes con quistes pulmonares congénitos conlleva una resección quirúrgica. Las variaciones en la ubicación y el tamaño del quiste de aire en el pulmón afectado implican la selección de diferentes estrategias quirúrgicas. La presencia de quistes pulmonares congénitos gigantes que imitan un neumotórax a tensión no permitiría tomar una decisión precisa y realizar un tratamiento oportuno durante una emergencia respiratoria. Los escasos informes sobre este tipo de experiencia hacen referencia a quistes a tensión durante la niñez. En este artículo, presentamos el caso de un niño con un quiste pulmonar congénito gigante que imita neumotórax a tensión según las manifestaciones clínicas y las evaluaciones del diagnóstico por imágenes. La descompresión instantánea del neumotórax a tensión no logró aliviar la dificultad respiratoria del niño. En los niños que presentan evidencia clínica de neumotórax a tensión, se debe excluir la posibilidad de un quiste pulmonar congénito gigante.

Treats of symptomatic infants with congenital cystic lung lesions (CCLLs) need surgical resection. Variable location and size of the air cyst of involved lung mean that different surgical strategies must be selected. The presence of huge CCLLs mimicking tension pneumothorax would hamper accurate judgment and timely treatment in dealing with respiratory emergencies. Rare experience reports are coping with childhood tension cystic lung lesion. We present a case of childhood huge CCLLs which was similar to tension pneumothorax based on clinical manifestations and imaging evaluations. Implementation of instant decompression measure against tension pneumothorax failed to alleviate respiratory distress of child. We should exclude the possibility of huge lung cystic lesion in children when clinical evidence inclines to the diagnosis of tension pneumothorax.