OBJECTIVE: To explore the genetic characteristics and pathogenesis for a child with mosaicism trisomy 21 and Congenital leukemia (CL). METHODS: A child who was admitted to Ningbo Women and Children's Hospital in March 2023 was selected as the study subject. A retrospective analysis was carried out on the clinical data, laboratory test results, immunophenotyping, and genetic characteristics of the child. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: EC2024-063). RESULTS: Whole genome sequencing (WGS) revealed that the child has mosaicism trisomy of chromosome 21, with a ratio of approximately 74%. In addition, copy number variations involving multiple OMIM genes that could explain his clinical phenotype were detected and rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). No pathogenic variant was detected with the GATA1 gene. Blood immune typing of the child conformed to the immunophenotype of acute myeloid leukemia. CONCLUSION For children with trisomy 21, even in the absence of GATA1 gene variants, the occurrence of CL should be monitored, and early diagnosis and treatment are of great significance for improving the prognosis.
Child, Preschool ; Humans ; DNA Copy Number Variations/genetics* ; Down Syndrome/genetics* ; GATA1 Transcription Factor/genetics* ; Leukemia/congenital* ; Mosaicism ; Mutation ; Retrospective Studies ; Whole Genome Sequencing

UNLABELLED: OBJECTIVE：To explore the clinical characteristics and genetic etiology of a child with CAKUTHED syndrome. METHODS: A child who was admitted to the neonatal department of Gansu Provincial Maternal and Child Health Care Hospital due to "neonatal asphyxia" in May 2021 was selected as the study subject. Genomic DNA was extracted from peripheral venous blood samples from the child and his parents, and whole exome sequencing (WES) was carried out. Sanger sequencing was used to verify the candidate variant of the PBX1 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital [Ethics No.: 2021GSFY (65)]. RESULTS: The proband, a male neonate, manifested renal dysplasia, congenital heart disease, pulmonary dysplasia, mediastinal hernia, cryptorchidism, and clavicle dysplasia. WES revealed that he had harbored a heterozygous c.863G>A (p.Arg288Gln) missense variant in exon 6 of PBX1 gene, which resulted substitution of Arginine at position 288 by Glutamine, for which both parents were of the wild type. The variant was unreported previously and rated as pathogenic (PS2+PM1+PM2_Supporting+PP2+PP3) based on the ACMG guidelines. CONCLUSION The c.863G>A variant of the PBX1 gene probably underlay the pathogenesis in the proband. Above finding has enriched the mutational spectrum of the PBX1 gene.
Humans ; Male ; Pre-B-Cell Leukemia Transcription Factor 1/genetics* ; Phenotype ; Infant, Newborn ; Exome Sequencing ; Mutation, Missense ; Heart Defects, Congenital/genetics* ; Abnormalities, Multiple/genetics*

STUDY DESIGN: Prospective, single-center study.PURPOSE: The current trend of operative treatment for adult spinal deformity (ASD) is combined anterior-posterior staged surgery. When anterior surgery was first performed, oblique lumbar interbody fusion (OLIF) was employed; this method became increasing popular. This study aimed to determine the lordosis correction that can be achieved using OLIF and assess whether we can preoperatively predict the lordosis correction angle achieved using OLIF.OVERVIEW OF LITERATURE: Many previous studies on OLIF have shown improved clinical and radiologic outcomes. With the increase in the popularity of OLIF, several surgeons have started using larger cages to attain greater lordosis correction. Moreover, some studies have reported complications of OLIF because of immoderate cage insertion. To our knowledge, this is the first prospective study that attempted to determine whether it is possible to predict the lordosis correction angle achieved with OLIF preoperatively, using fullextension lateral view (FELV).METHODS: Forty-six patients with ASD were enrolled. All the operations were performed by a single surgeon in two stages (first, anterior and second, posterior) with a 1-week interval. Radiological evaluation was performed by comparing the Cobb’s angle of the segmental and regional lordosis obtained using preoperative and postoperative simple radiography (including the FELV) and magnetic resonance imaging (MRI).RESULTS: Regional lordosis (L1–S1) in the whole-spine standing lateral radiograph was −3.03°; however, in the supine lateral MRI, it was 20.92°. The regional lordosis of whole-spine standing lateral and supine lateral (MRI) was significantly different. In the FELV, regional lordosis was 25.72° and that in the postoperative supine lateral (MRI) was 25.02°; these values were not significantly different.CONCLUSIONS: Although OLIF offers many advantages, it alone plays a limited role in ASD treatment. Lordosis correction using OLIF as well as lordosis determined in the FELV was possible. Hence, our results suggest that FELV can help predict the lordosis correction angle preoperatively and thus aid the selection of the appropriate technique in the second staged operation.
Adult ; Animals ; Congenital Abnormalities ; Humans ; Leukemia Virus, Feline ; Lordosis ; Magnetic Resonance Imaging ; Methods ; Prospective Studies ; Radiography ; Surgeons

Fanconi's anemia is a rare autosomal recessive genetic disorder characterized by congenital abnormalities and anaplastic anemia. Patients with this disorder has predisposition for leukemia, specifically acute myeloid leukemia. Risk for head and neck solid tumors are also increased. Head and neck cancers in patients with Fanconi's anemia are significantly different from those in patients without Fanconi's anemia in frequency, distribution, clinical course, and treatment. Therefore, we report a case of 23-year-old male with Fanconi's anemia, who presented with an oral tongue cancer treated with radical excision, bilateral neck dissection and careful postoperative radiation therapy.
Anemia ; Congenital Abnormalities ; Fanconi Anemia* ; Head ; Hospital Distribution Systems ; Humans ; Leukemia ; Leukemia, Myeloid, Acute ; Male ; Neck ; Neck Dissection ; Tongue Neoplasms* ; Tongue* ; Young Adult

The granulocyte colony-stimulating factor (G-CSF), now referred to as CSF3, is a very important cell growth factor that supports the proliferation, survival, and differentiation of neutrophilic progenitor cells, and also is a strong immune regulator of T cells and a promising therapeutic tool in acute graft versus host disease (GVHD). G-CSF acts by binding to its receptor G-CSFR (also called CSF3R), a member of the cytokine receptor type I superfamily, which after binding with G-CSF activates the canonical Janus kinase (Jak)/signal transducer, activator of transcription (STAT)and Ras/Raf/MAP kinase pathways. G-CSF has been applied to the clinic to treat congenital and acquired neutropenia before or during courses of intensive chemotherapy. It has also been applied to mobilize hematopoietic stem cells into the peripheral blood for Auto-or allogeneic transplantation, and the priming strategies designed to enhance the sensitivity of leukemia stem cells to cytotoxic agents in protocols aimed to induce their differentiation, accompanying growth arrest, and cell death. With the rapid development of molecular genetics and clinical research, CSF3R mutations have been implicated in the progression of severe congenital neutropenia (SCN) to leukemia. Recently, CSF3R mutations have been discovered frequently in chronic neutrophilic leukemia (CNL). Such findings might provide the theoretical basis for the targeted therapy. In this review, the clinical application of G-CSF receptor in hematonosis is briefhy summarized.
Graft vs Host Disease ; Granulocyte Colony-Stimulating Factor ; Hematopoiesis ; Hematopoietic Stem Cells ; Humans ; Leukemia ; Mutation ; Neutropenia ; congenital ; Receptors, Granulocyte Colony-Stimulating Factor ; Signal Transduction ; Transplantation, Homologous

Fetal Blood ; Humans ; Infant, Newborn ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; blood ; congenital ; diagnosis

Healthcare workers are exposed to a variety of chemical agents used in many different areas and purposes. The chemicals could cause health problems to healthcare workers using them. Glutaraldehyde is a kind of disinfectant and used for endoscopes, catheters, and many kinds of operating apparatus. It may cause allergic contact dermatitis. Formaldehyde is another disinfectant and can be used for fixing tissues. Formaldehyde was classified to a Group 1 carcinogen by IARC and it may cause lung or nasal cancer. Ethylene Oxide gas is the most popular disinfectant these days and may be applied to many health care sets or linens. EO gas may cause allergic contact dermatitis and breast cancer or leukemia. It is also classified as Group 1 carcinogen despite limited evidence for human cancers. Anesthetics are related to genotoxicities, sister chromatid exchange, and might be related to spontaneous abortion, stillbirth or birth defects. Some of the anti-neoplastic drugs such as Busulfan, Chlorambucil, cyclophosphamide, melphalan are Group 1 carcinogens. They could cause nausea, pruritus, or decreasing leukocytes or platelets. Other miscellaneous chemical agents are heavy metals such as elementary mercury or lead and organic solvents such as toluene, xylene and acetone. Although some of these chemical agents including EO gas have occasionally exceeded to permissible level, air levels of most above chemicals in Korean hospitals were relatively low. However, we have to make every effort to reduce the exposure level of these chemicals.
Abortion, Spontaneous ; Acetone ; Anesthetics ; Bedding and Linens ; Blood Platelets ; Breast Neoplasms ; Busulfan ; Carcinogens ; Catheters ; Chlorambucil ; Congenital Abnormalities ; Cyclophosphamide ; Delivery of Health Care ; Dermatitis, Allergic Contact ; Endoscopes ; Ethylene Oxide ; Ethylenes ; Female ; Formaldehyde ; Glutaral ; Humans ; Leukemia ; Leukocytes ; Lung ; Melphalan ; Metals, Heavy ; Nausea ; Nose Neoplasms ; Pregnancy ; Pruritus ; Sister Chromatid Exchange ; Solvents ; Stillbirth ; Toluene ; Xylenes

Humans ; Infant, Newborn ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; congenital

Chronic Disease ; Down Syndrome ; complications ; Heart Defects, Congenital ; complications ; Humans ; Infant, Newborn ; Leukemia ; congenital ; Male

Fatal Outcome ; Humans ; Infant, Newborn ; Leukemia ; blood ; congenital ; diagnosis ; Leukocyte Count ; Male