OBJECTIVE: To investigate the clinical application value of artificial intelligence (AI)-based bone marrow cell recognition and analysis system in the diagnosis of hematological diseases. METHODS: The bone marrow smears of hematological patients who were admitted to The Second Hospital of Shanxi Medical University from 2018 to 2020 were retrospectively analyzed. A total of 115 bone marrow smears with clear diagnosis and typical cell morphology characteristics were selected, including 20 cases of immune thrombocytopenia(ITP), 11 cases of iron deficiency anemia (IDA), 17 cases of megaloblastic anemia (MA), 20 cases of chronic myeloid leukemia (CML), 17 cases of acute lymphoblastic leukemia (ALL), 23 cases of acute promyelocytic leukemia (APL), and 7 cases of acute myeloid leukemia unclassified (AML-M2). The samples were analyzed by manual microscopic examination, AI automatic recognition, and manual correction after AI recognition. RESULTS: The images captured by the AI device were clear, and the cell morphological structures were distinct. The average experimental diagnostic efficiency parameters of the bone marrow nucleated cells classified in this system were calculated. The sensitivity was 74.90%, specificity was 99.03%, and accuracy was 98.29%. In the comparison between the AI recognition group and the manual examination group, the data of IDA, ITP, MA, and CML diseases were all greater than 0.85 in ICC correlation coefficient, with excellent consistency; the data of APL, AML-M2, and ALL three diseases were between 0.6 and 0.85 in ICC correlation coefficient, with moderate consistency. However, after manual review and correction, the ICC correlation coefficient between the data of the AI correction group and the data from the manual examination group was greatly improved. CONCLUSION The AI bone marrow cell recognition and analysis system has the characteristics of high accuracy, high specificity, good sensitivity and fast detection. When used in combination with manual review, it can improve the detection efficiency of bone marrow cells morphological analysis and meet the needs of clinical work.
Humans ; Artificial Intelligence ; Hematologic Diseases/diagnosis* ; Bone Marrow Cells/pathology* ; Retrospective Studies

OBJECTIVES: To propose a single repetition time (TR) quantitative magnetic susceptibility imaging method for the lumbar spine using bipolar readout gradient, and compare the quantitative magnetic susceptibility measurement using single TR and dual TR methods for the lumbar spine with different bone densities. METHODS: A translation correction method was proposed to correct spatial misalignment along the frequency encoding direction between positive and negative gradient readout images, and the phase difference between the images was eliminated using a phase correction method. The data of lumbar vertebrae L1-L5 were collected using single TR and dual TR methods from 6 normal individuals, 2 patients with osteopenia, and 2 patients with osteoporosis. The magnetic susceptibility map was reconstructed, the quantitative results of single TR before and after correction were compared with those of the dual TR method. RESULTS: The linear regression result of the lumbar spine magnetic susceptibility values obtained by the single TR method before calibration and the dual TR method is Y=0.64*X-11.61. The linear regression result of the lumbar spine magnetic susceptibility values corrected by the single TR method and the dual TR method is Y=1.03*X+0.25. The results of the corrected single TR method were highly consistent with those of the dual TR method, and the calibrated single TR method could effectively distinguish osteopenia and osteoporosis patients from normal individuals. CONCLUSIONS The calibrated single TR bipolar readout gradient method can generate artifact-free lumbar spine quantitative magnetic susceptibility distribution maps and reduce data acquisition time by 50%.
Humans ; Lumbar Vertebrae/pathology* ; Magnetic Resonance Imaging/methods* ; Female ; Middle Aged ; Male ; Osteoporosis/diagnosis* ; Adult ; Bone Density ; Aged ; Bone Diseases, Metabolic/diagnosis*

OBJECTIVE: To assess the diagnostic value of copy number variation sequencing (CNV-seq) in the genetic etiology of fetuses with nasal bone dysplasia (NBD). METHODS: A total of 217 fetuses discovered with NBD from December 2017 to December 2020 were divided into the isolated NBD group and NBD combined with other anomalies group, for which copy number variations (CNVs) were analyzed. RESULTS: A total of 40 fetal abnormalities were detected in 217 cases, with an overall abnormal rate of 18.4%. These included 31 cases with aneuploidies (14.3%, 31/217) and 9 cases with genomic CNVs (4.1%, 9/217). Five cases of trisomy 21 (3.5%, 5/144) and two CNVs cases with unknown clinical significance (1.4%, 2/144) were detected in the isolated group. As for the combined NBD group, 26 aneuploidies (35.6%, 26/73), including 19 cases with trisomy 21, 6 cases with trisomy 18, 1 case with trisomy 13, 5 cases with pathogenic CNVs (6.8%, 5/73), and 2 cases with CNVs of unknown clinical significance (2.7%, 2/73) were detected. A significant difference was detected between the two groups (P < 0.01). CONCLUSION The detection rate of CNV-seq is high for chromosomal aneuploidies and pathogenic CNVs in fetuses with NBD, particularly in those combined with other ultrasonic abnormalities.
Aneuploidy ; Bone Diseases, Developmental ; Chromosome Aberrations ; DNA Copy Number Variations ; Down Syndrome/genetics* ; Female ; Fetus/abnormalities* ; Humans ; Pregnancy ; Prenatal Diagnosis ; Trisomy

OBJECTIVE: To explore strategies of prenatal genetic testing for fetuses featuring abnormal skeletal development. METHODS: Clinical data of 17 fetuses with skeletal dysplasia was collected. The results of genetic testing and outcome of pregnancy were analyzed. RESULTS: For 12 fetuses, the femur-to-foot length ratio was less than 0.9. Thirteen fetuses had a positive finding by genetic testing. One fetus was diagnosed with chromosomal aneuploidy, three were diagnosed with microdeletion/microduplications, and nine were diagnosed with hereditary bone diseases due to pathological variants of FGFR3, COL1A2, GPX4 or ALPL genes. CONCLUSION For fetuses with skeletal dysplasia characterized by short femur, in addition to chromosomal karyotyping and microarray analysis, sequencing of FGFR3 and other bone disease-related genes can improve the diagnostic rate.
Bone Diseases, Developmental/genetics* ; Female ; Fetus/diagnostic imaging* ; Genetic Testing ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Ultrasonography, Prenatal

Hepatic osteodystrophy is frequent complication in patients with chronic liver disease, particularly with chronic cholestasis. We report a male infant with congenital hepatoblastoma, who had osteodystrophy complicated by multiple bone fractures despite adequate supplementation of fat-soluble vitamins including vitamin D. He was born by Caesarean section because of a 7 cm–sized abdominal mass detected by prenatal ultrasonography. The pathologic diagnosis was hepatoblastoma, PRETEXT staging III or IV. Whole body bone scan at the time of diagnosis showed no abnormal uptake. Oral vitamin D3 of 2,000 IU/day was administered with other fat-soluble vitamins. Serum direct bilirubin level gradually increased up to 28.9 mg/dL at postnatal 6 days and was above 5 mg/dL until 110 days of age. Bony changes consistent with rickets became apparent in left proximal humerus since 48 days of age, and multiple bone fractures developed thereafter. With resolving cholestasis by chemotherapy, his bony lesions improved gradually after add-on treatment of bisphosphonate and parenteral administration of vitamin D with calcium. High level of suspicion and prevention of osteodystrophy is needed in patients with hepatoblastoma, especially when cholestasis persists.
Bilirubin ; Calcium ; Cesarean Section ; Cholecalciferol ; Cholestasis ; Diagnosis ; Drug Therapy ; Female ; Fractures, Bone ; Hepatoblastoma ; Humans ; Humerus ; Infant ; Liver Diseases ; Male ; Pregnancy ; Rickets ; Ultrasonography, Prenatal ; Vitamin D ; Vitamins

Splenic B-cell lymphomas (SBCLs) show characteristically pronounced splenomegaly without significant lymphadenopathy. Distinguishing hairy cell leukemia (HCL) from other SBCLs (splenic marginal zone lymphoma [SMZL], variant HCL [v-HCL], and splenic diffuse red pulp small B-cell lymphoma [SDRPL]) is essential to determine suitable treatments and prognoses. With advances in diagnostic modalities and therapies, splenectomy is not commonly performed, and thus diagnosis of HCL must be based on the results obtained using blood and bone marrow samples. Annexin A1 is known as the most specific marker for HCL. There has yet been no report of the assessment of annexin A1 immunostaining from Korea. In this study we analyzed samples from 13 Korean patients with SBCLs (three HCL, three v-HCL, six SMZL, and one SDRPL) from May 2001 to December 2016. Immunohistochemical analyses for annexin A1 and CD20 were performed using bone marrow sections; molecular analyses for detection of the BRAF V600E mutation were also performed. All HCL patients showed positive results for annexin A1 immunostaining and the presence of the BRAF V600E mutation, and negative results for other SBCLs. Our results confirmed the high specificity of annexin A1 and the BRAF V600E mutation as HCL markers. Molecular analysis requires expensive equipment and substantial manpower. Annexin A1 is a better alternative as an HCL marker than the BRAF V600E mutation in terms of cost-effectiveness.
Annexin A1 ; Bone Marrow ; Diagnosis ; Humans ; Korea ; Leukemia, Hairy Cell ; Lymphatic Diseases ; Lymphoma ; Lymphoma, B-Cell ; Prognosis ; Sensitivity and Specificity ; Splenectomy ; Splenomegaly

Bone disease is a serious complication to diabetes. Patients with type 1 diabetes (T1D) and type 2 diabetes (T2D) suffer from an increased risk of fracture, most notably at the hip, compared with patients without diabetes. Confounders such as patient sex, age, body mass index, blood glucose status, fall risk, and diabetes medications may influence the fracture risk. Different underlying mechanisms contribute to bone disease in patients with diabetes. Bone quality is affected by low bone turnover in T1D and T2D, and furthermore, incorporation of advanced glycation end-products, changes in the incretin hormone response, and microvascular complications contribute to impaired bone quality and increased fracture risk. Diagnosis of bone disease in patients with diabetes is a challenge as current methods for fracture prediction such as bone mineral density T-score and fracture risk assessment tools underestimate fracture risk for patients with T1D and T2D. This review focuses on bone disease and fracture risk in patients with diabetes regarding epidemiology, underlying disease mechanisms, and diagnostic methods, and we also provide considerations regarding the management of diabetes patients with bone disease in terms of an intervention threshold and different treatments.
Blood Glucose ; Body Mass Index ; Bone Density ; Bone Diseases ; Bone Remodeling ; Diagnosis ; Epidemiology ; Hip ; Humans ; Incretins ; Osteoporosis ; Risk Assessment

PURPOSE: Fat embolism syndrome (FES) is systemic manifestation of fat emboli in the circulation seen mostly after long bone fractures. FES is considered a lethal complication of trauma. There are various case reports and series describing FES. Here we describe the clinical characteristics, management in ICU and outcome of these patients in level I trauma center in a span of 6 months. METHODS: In this prospective study, analysis of all the patients with FES admitted in our polytrauma intensive care unit (ICU) of level I trauma center over a period of 6 months (from August 2017 to January 2018) was done. Demographic data, clinical features, management in ICU and outcome were analyzed. RESULTS: We admitted 10 cases of FES. The mean age of patients was 31.2 years. The mean duration from time of injury to onset of symptoms was 56 h. All patients presented with hypoxemia and petechiae but central nervous system symptoms were present in 70% of patients. The mean duration of mechanical ventilation was 11.7 days and the mean length of ICU stay was 14.7 days. There was excellent recovery among patients with no neurological deficit. CONCLUSION FES is considered a lethal complication of trauma but timely management can result in favorable outcome. FES can occur even after fixation of the fracture. Hypoxia is the most common and earliest feature of FES followed by CNS manifestations. Any patient presenting with such symptoms should raise the suspicion of FES and mandate early ICU referral.
Adolescent ; Adult ; Central Nervous System Diseases ; etiology ; Early Diagnosis ; Embolism, Fat ; diagnosis ; etiology ; prevention & control ; Fractures, Bone ; complications ; Humans ; Hypoxia ; etiology ; Intensive Care Units ; statistics & numerical data ; Length of Stay ; statistics & numerical data ; Male ; Patient Outcome Assessment ; Time Factors ; Trauma Centers ; statistics & numerical data ; Young Adult

BACKGROUND: This study examined the change in the trabecular bone score (TBS), areal bone mineral density (aBMD), and osteoporosis in postmenopausal women who underwent thyrotropin (TSH)-suppressive therapy for treating papillary thyroid cancer after a total thyroidectomy procedure. METHODS: We evaluated 36 postmenopausal women who received a total thyroidectomy for papillary thyroid cancer and were undergoing TSH suppressive therapy with levothyroxine. Postmenopausal women (n=94) matched for age and body mass index were recruited as healthy controls. The aBMD and TBS of the lumbar spine were compared between dual energy X-ray absorptiometry (DXA) at baseline and at follow-up after an average of 4.92 years. RESULTS: There was no significant difference in the rate of diagnoses of osteoporosis, osteopenia, or normal bone status between the 2 groups during the baseline DXA evaluation. However, the TBS was significantly lower whereas aBMD did not show significant difference at the time of baseline DXA measurement (1st DXA, 1.343±0.098 vs. 1.372±0.06317, P < 0.001; 2nd DXA, 1.342±0.095 vs. 1.370±0.062, P < 0.001). The TBS and aBMD did not differ significantly between the initial and follow-up DXA images in both groups of TSH suppressive patients and controls. CONCLUSIONS: The average value of TBS and aBMD did not significantly change during the follow-up period. The TSH suppressive therapy was revealed as not a significant factor for the progressive deterioration of bone status during long term follow-up.
Absorptiometry, Photon ; Body Mass Index ; Bone Density ; Bone Diseases, Metabolic ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Osteoporosis ; Postmenopause ; Spine ; Thyroid Neoplasms ; Thyroidectomy ; Thyrotropin ; Thyroxine

OBJECTIVES: An understanding of bone mineral density (BMD) pattern in a population is crucial for prevention and diagnosis of osteoporosis and management of its complications in later life. This study aimed to screen the bone health status and factors associated with osteoporosis in an apparently healthy Indian population. METHODS: A retrospective review of medical records was done in a tertiary-care hospital for the subjects who had undergone preventive health-check-ups that included BMD measurements at femur-neck, total-femur, and lumbar-spine. RESULTS: We evaluated 524 subjects (age, 50.0 ± 12.4 years) including 41.2% female and 58.8% male subjects. Osteoporosis was present in 6.9% subjects (female, 11.1%; male, 4.2%) and osteopenia in 34% subjects (female, 40.3%; male, 29.9%). Absolute BMD was higher in male subjects (P < 0.001) compared to female subjects at all bone sites. Prevalence of osteoporosis increased with age in female subjects, but not in male subjects. Osteoporosis rates in the age-groups of 30–39, 40–49, 50–59, 60–69, and ≥70 years were 3%, 3.4%, 14.3%, 18.6%, and 36.4%, respectively in female subjects while prevalence in male subjects was 0%, 4%, 6.5%, 4.3%, and 5.6%, respectively, at lumbar spine. Height (r = 0.234–0.358), weight (r = 0.305–0.388), body mass index (r = 0.143–0.285) and physical activity (r = 0.136–0.153) were positively; and alkaline phosphatase (r=−0.133 to −0.203) was negatively correlated with BMD (all P < 0.01) at all sites. These parameters retained significant correlation after controlling for age and sex. No correlation of serum 25-hydroxy-vitamin-D and calcium was noted with BMD (P > 0.05) at any site. CONCLUSIONS: Further data on absolute BMD, T scores, and prevalence rates of osteoporosis/osteopenia on multiple bone sites have been presented in this article.
Alkaline Phosphatase ; Body Mass Index ; Bone Density ; Bone Diseases, Metabolic ; Calcium ; Diagnosis ; Female ; Humans ; Male ; Medical Records ; Motor Activity ; Osteoporosis ; Prevalence ; Retrospective Studies ; Spine