A male full-term neonate was admitted at 30 minutes of life with pallor and 10 minutes of respiratory distress. Physical examination revealed pallor, increased intercanthal distance, low-set ears, a palpable cystic mass in the neck, hepatomegaly, a pedunculated, globular appendage attached to the right thumb, and an ectopic toenail on the right second toe. Laboratory testing showed severe anemia with hemoglobin of 44 g/L. Bone marrow examination demonstrated hypoplasia. Whole-exome sequencing identified a heterozygous pathogenic variant in the RPS19 gene, c.175T>C (p.Ser59Pro), establishing the diagnosis of Diamond-Blackfan anemia. On follow-up to 2 years and 2 months of age, both hemoglobin and reticulocyte counts remained within normal ranges. This case illustrates early-onset severe anemia in a neonate with genetically confirmed Diamond-Blackfan anemia and expands the phenotypic spectrum, informing clinical recognition and management.
Humans ; Anemia, Diamond-Blackfan/diagnosis* ; Male ; Infant, Newborn ; Ribosomal Proteins/genetics*

OBJECTIVE: To explore the characteristics of Shwachman-Diamond syndrome (SDS) in Chinese children in order to provide a reference for early diagnosis. METHODS: With Shwachman-Diamond syndrome, SDS, SBDS gene and inherited bone marrow failure as the keywords, the search period was set from January 2002 to October 2022. Relevant literature was retrieved from the Wanfang Database and China National Knowledge Infrastructure (CNKI) database. In addition, by using Shwachman-diamond syndrome as a keyword, the search period was also retrieved from the Web of Science, PubMed, and MEDLINE databases from January 2002 to October 2022. A child with SDS treated at the Tongji Hospital was also included. A total of 44 cases with complete clinical data were analyzed with reference to the International Standard for SDS Diagnosis. Chi-square test and t test were used for statistical analysis. Evidence-based research was carried out in the form of systematic review. The epidemiology, clinical characteristics and key points of early diagnosis of the Chinese SDS children were summarized and compared with the international data. RESULTS: The main characteristics of SDS in Chinese children were summarized as follows: The ratio of males to females was about 1.3 : 1, the median age of onset was 3 months, and the median age of diagnosis was 14 months. The first symptoms were often exocrine pancreatic insufficiency (31.8%) and granulocytopenia with infection (31.8%). According to the international consensus, the incidence rates of the three major diseases of SDS were hemocytopenia (95.4%), pancreatic disease (72.7%), and bone abnormality (40.9%). The common factors underlying SDS disease were variants of the SBDS gene (c.258+2T>C and c.183_184TA>CT), albeit there was no significant correlation between genotype and phenotype (P > 0.05). Compared with international reports, the clinical manifestations and genotypes of Chinese SDS children are different (P < 0.05). CONCLUSION The SDS children have an early age of onset and significant individual difference. It is necessary to analyze the case-related data to facilitate early recognition, diagnosis and clinical intervention.
Female ; Humans ; Male ; Bone Marrow Diseases/therapy* ; China ; East Asian People ; Exocrine Pancreatic Insufficiency/therapy* ; Shwachman-Diamond Syndrome/therapy*

Humans ; Shwachman-Diamond Syndrome ; Myelodysplastic Syndromes/therapy* ; Transplantation, Homologous ; Hematopoietic Stem Cell Transplantation ; Transplantation Conditioning

OBJECTIVES: Root canal therapy is the most effective and common method for pulpitis and periapical periodontitis. During the root canal preparation, chemical irrigation plays a key role. However, sodium hypochlorite (NaOCl), the widely used irrigation fluid, may impact the bonding strength between dentin and restorative material meanwhile sterilization and dissolving. Therefore, it's important to explore the influence of NaOCl on the adhesion between dentin and restoration materials to ensure clinical efficacy. This study aims to explore the effect of NaOCl on dentine adhesion and evaluate the effect of dentine adhesion induced by sodium erythorbate (ERY), and to provide clinical guidance on dentin bonding after root canal therapy. METHODS: Seventy freshly complete extracted human third molars aged 18-33 years old, without caries and restorations were selected. A diamond saw was used under running water to achieve dentine fragments which were divided into 10 groups with 14 fragments in each group: 2 control [deionized water (DW)±10% ERY] and 8 experimental groups (0.5%, 1%, 2.5%, and 5.25% NaOCl±10% ERY). The dentine specimens in the control group (treated with DW) and the experimental groups (treated with 0.5% NaOCl, 1% NaOCl, 2.5% NaOCl, and 5.25% NaOCl) were immersed for 20 min using corresponding solutions which were renewed every 5 min. The other 5 groups were immersed in 10% ERY for 5 min after an initial washing with DW for 1 min. Then, we selected 4 dentine fragments from all 14 fragments in each group and the numbers and diameters of opening dentinal tubules were observed under scanning electron microscope (SEM). The other 10 dentine fragments from each group were used to make adhesive samples by using self-etch adhesive wand composite resin. All the above adhesive samples were sectioned perpendicular to the bonded interface into 20 slabs with a cross-sectional area of 1 mm×1 mm using a diamond saw under the cooling water, and then the morphology of 10 slabs in each group's bonding interface was observed from aspects of formation of resin tags, depth of tags in dentin, and formation of hybrid layer under SEM. The other 10 slabs of each group's microtensile bond strength and failure modes were also analyzed. RESULTS: Among the 0.5% NaOCl, 1% NaOCl, 2.5% NaOCl, and 5.25% NaOCl groups, the number and diameter of patent dentinal tubules gradually increased with the rise of concentration of NaOCl solution (all P<0.05). Among the DW, 0.5% NaOCl, 1% NaOCl, 2.5% NaOCl, and 5.25% NaOCl groups, the number and diameter of patent dentinal tubules increased after using ERY, but without significant difference (all P>0.05). Among the DW, 0.5% NaOCl, 1% NaOCl, and 2.5% NaOCl groups, the scores of formation of resin tags under SEM gradually increased with the increase of concentration of NaOCl solution, while the score in the 5.25% NaOCl group decreased significantly compared with the score of the 2.5% NaOCl group (P<0.05). There was no significant difference between using 10% ERY groups and without using 10% ERY groups (all P>0.05). The scores of length of the tags under SEM in the 5.25% NaOCl group was significantly higher than the scores of DW, 0.5% NaOCl, and 1% NaOCl groups (all P<0.05), and it was also higher than the score of the 2.5% NaOCl group, but without significant difference (P>0.05). There was no significant difference between using 10% ERY groups and without using 10% ERY groups (P>0.05). The scores of formation of hybrid layer under SEM in the 2.5% NaOCl and 5.25% NaOCl groups significantly decreased compared with the score of the DW group (all P<0.05). There were significant differences between the 2.5% NaOCl±10% ERY groups and between the 5.25% NaOCl±10% ERY groups (all P<0.05). Microtensile bond strength was greater in the 0.5% NaOCl, 1% NaOCl, and 2.5% NaOCl groups, but lower in the 5.25% NaOCl group than that in the DW group (all P<0.05). There were significant differences between the 2.5% NaOCl±10% ERY groups and between the 5.25% NaOCl±10% ERY groups (all P<0.05). The incidence of type "Adhesive" of failure modes in the 5.25% NaOCl group was significantly higher than that in other groups (all P<0.05), while the incidence of type "Adhesive" in the 5.25% NaOCl+10% ERY group was lower than that in the 5.25% NaOCl group (P<0.05). CONCLUSIONS The bonding strength to dentine increases with the increase of NaOCl concentration when the concentration lower than 2.5%; whereas it is decreased at a higher concentration (such as 5.25%). 10% ERY has a definite recovery effect on attenuated bonding strength to 5.25% NaOCl-treated dentine.
Adolescent ; Adult ; Ascorbic Acid ; Dental Bonding ; Dentin ; Dentin-Bonding Agents/pharmacology* ; Diamond/pharmacology* ; Humans ; Materials Testing ; Microscopy, Electron, Scanning ; Resin Cements/pharmacology* ; Sodium Hypochlorite/pharmacology* ; Tensile Strength ; Water/pharmacology* ; Young Adult

OBJECTIVES: To investigate the distribution of body mass index (BMI) and risk factors for obesity in children with Diamond-Blackfan Anemia (DBA). METHODS: The children with DBA who attended National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, from January 2003 to December 2020 were enrolled as subjects. The related clinical data and treatment regimens were recorded. The height and weight data measured within 1 week before or after follow-up time points were collected to calculate BMI. The risk factors for obesity were determined by multivariate regression analysis in children with DBA. RESULTS: A total of 129 children with DBA were enrolled, among whom there were 80 boys (62.0%) and 49 girls (38.0%), with a median age of 49 months (range 3-189 months). The prevalence rate of obesity was 14.7% (19/129). The multivariate logistic regression analysis showed that the absence of ribosomal protein gene mutation was closely associated with obesity in children with DBA (adjusted OR=3.63, 95%CI: 1.16-11.38, adjusted P=0.027). In children with glucocorticoid-dependent DBA, obesity was not associated with age of initiation of glucocorticoid therapy, duration of glucocorticoid therapy, and maintenance dose of glucocorticoids (P>0.05). CONCLUSIONS There is a high prevalence rate of obesity in children with DBA, and the absence of ribosomal protein gene mutation is closely associated with obesity in children with DBA.
Child ; Male ; Female ; Humans ; Anemia, Diamond-Blackfan/genetics* ; Pediatric Obesity/complications* ; Glucocorticoids/therapeutic use* ; Prevalence ; Risk Factors ; Ribosomal Proteins/genetics* ; Mutation

Congenital pure red cell aplasia, also known as Diamond-Blackfan anemia (DBA), is a hereditary disease characterized by pure red cell aplasia and congenital malformation. Its main clinical features are anemia, dysplasia, and tumor susceptibility. Ribosomal protein (RP) gene mutation is the main pathogenesis of DBA. The most common type of gene mutation is RPS19 gene mutation. Heterozygous mutations in as many as 19 RP genes and other non-RP genes mutations have been identified in DBA. This review summarized briedfly the latest research advances in the pathogenesis of DBA.
Anemia, Diamond-Blackfan ; Humans ; Mutation ; Ribosomes

In order to clearly define the features of Shwachman-Diamond syndrome (SDS) in Chinese children, this article analyzes and summarizes the epidemiology, clinical features, and key points in the diagnosis and treatment of SDS in Chinese children with review of the clinical data of 27 children with SDS from related articles published previously. A comparative analysis was made between the Chinese and international data related to childhood SDS. The results showed a male/female ratio of about 2:1 in the Chinese children with SDS, with an age of onset of <1 month to 5 years (median 1 month) and an age of 3 months to 12 years (median 12 months) at the time of confirmed diagnosis. Reductions in peripheral blood cells due to myelopoiesis inhibition were observed in all 27 children with SDS, among whom 93% had neutropenia. Chronic diarrhea (85%), liver damage (78%), and short stature (83%) were the three main clinical features of SDS. Supplementation of pancreatin and component blood transfusion may temporarily alleviate the disease, while allogeneic hematopoietic stem cell transplantation is still an effective radical treatment. The comparative analysis of the Chinese and oversea data showed that compared with those in the European and American countries, the children with SDS in China had significantly higher incidence rates of chronic diarrhea, reductions in peripheral blood cells (three lineages), and liver damage, and there were also differences in the type of mutant genes.
Child ; China ; Exocrine Pancreatic Insufficiency ; Female ; Humans ; Male ; Neutropenia ; Shwachman-Diamond Syndrome ; Treatment Outcome

OBJECTIVE: To study the clinical features and genetic mutations of children with Shwachman-Diamond syndrome (SDS) and malignant myeloid transformation. METHODS: Next-generation sequencing was used to analyze the gene mutations in 11 SDS children with malignant myeloid transformation, and their clinical features and genetic mutations were analyzed. RESULTS: Of the 11 children with SDS, 9 (82%) presented with refractory cytopenia of childhood (RCC), 1 (9%) had myelodysplastic syndrome with excess blasts (MDS-EB), and 1 (9%) had acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). The median age of onset of malignant myeloid transformation was 48 months (ranged 7 months to 14 years). Of the 11 children, 45% had abnormalities in the hematological system alone. Mutations of the SBDS gene were detected in all 11 children, among whom 5 (45%) had c.258+2T>C homozygous mutation and 3 (27%) had c.184A>T+c.258+2T>C compound heterozygous mutation. The new mutations of the SBDS gene, c.634_635insAACATACCTGT+c.637_638delGA and c.8T>C, were rated as "pathogenic" and "possibly pathogenic" respectively. The 3-year predicted overall survival rates of children transformed to RCC and MDS-EB/AML-MRC were 100% and 0% respectively (P=0.001). CONCLUSIONS SDS children may have hematological system symptoms as the only manifestation, which needs to be taken seriously in clinical practice. The type of malignant transformation is associated with prognosis.
Adolescent ; Child ; Child, Preschool ; Exocrine Pancreatic Insufficiency ; Humans ; Infant ; Leukemia, Myeloid, Acute ; Mutation ; Myelodysplastic Syndromes ; Shwachman-Diamond Syndrome

PURPOSE: Surface finishing of a zirconia restoration is essential after clinical adjustment. Herein, we investigated the effects of a surface finishing protocol for monolithic zirconia on final roughness and bacterial adherence. MATERIALS AND METHODS: Forty-eight disk-shaped monolithic zirconia specimens were fabricated and divided into four groups (n = 12) based on initial surface treatment, finishing, and polishing protocols: diamond bur+polishing bur (DP group), diamond bur+stone grinding bur+polishing bur (DSP group), no diamond bur+polishing bur (NP group), and no diamond bur+stone grinding bur+polishing bur (NSP group). Initial and final surface roughness was measured with a profilometer, and shown using scanning electron microscope. Bacterial adhesion was evaluated by quantifying Streptococcus mutans in the biofilm. Kruskal-Wallis and Mann-Whitney U tests were used to compare results among groups, and two-way analysis of variance was used to evaluate the effects of grinding burs on final roughness (α=.05). RESULTS: The DP group had the highest final Ra value, followed by the DSP, NP, and NSP groups. Use of the stone grinding bur as a coarse-finishing step significantly decreased final Ra values when a diamond bur was used (P < .001). Omission of the stone grinding bur increased biofilm formation on specimen surfaces. Combining a stone grinding bur with silicone polishing burs produced the smallest final biofilm values, regardless of the use of a diamond bur in initial surface treatment. CONCLUSION: Coarse finishing of monolithic zirconia with a stone grinding bur significantly decreased final Ra values and bacterial biofilm formation when surfaces had been roughened by a diamond bur.
Bacterial Adhesion ; Biofilms ; Dental Instruments ; Dental Polishing ; Diamond ; Silicon ; Silicones ; Streptococcus mutans

PURPOSE: The purpose of this in vitro study was to evaluate the effect of surface grinding and polishing procedures using high speed zirconia diamond burs with different grit sizes on the phase transformation and flexural strength of zirconia.
Dental Instruments ; Diamond ; In Vitro Techniques ; Occlusal Adjustment