OBJECTIVES: To develop a quality control indicator system for neonatal screening of inherited metabolic diseases in obstetric settings, so as to provide a standardized tool for quality control in clinical neonatal screening of inherited metabolic diseases. METHODS: From March to May 2024, a literature review combined with expert clinical experience was conducted to develop a preliminary questionnaire on quality control indicators for neonatal screening of inherited metabolic diseases. The final indicator system was established after two rounds of the Delphi method, and the Analytic Hierarchy Process was used to determine indicator weights. RESULTS: Sixteen questionnaires were distributed in each of the two consultation rounds, with a valid response rate of 100% for both. The expert authority coefficients were 0.863 and 0.876, respectively. Kendall's coefficient of concordance for the importance and feasibility of the indicators ranged from 0.091 to 0.125. The final indicator system comprised 3 primary indicators, 8 secondary indicators, and 28 tertiary indicators for neonatal screening of inherited metabolic diseases in obstetric settings. CONCLUSIONS The quality control indicator system developed using the Delphi method demonstrates a strong systematic structure, high clinical adaptability, and strong operability, and can be effectively applied to quality control in neonatal screening of inherited metabolic diseases in obstetric settings.
Humans ; Infant, Newborn ; Neonatal Screening/standards* ; Quality Control ; Metabolism, Inborn Errors/diagnosis* ; Metabolic Diseases/diagnosis* ; Delphi Technique ; Female ; Quality Indicators, Health Care ; Pregnancy

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*

Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.
Humans ; Deafness/genetics* ; Hearing Loss, Sensorineural/diagnosis* ; Phenotype ; Metabolic Diseases/genetics* ; Genetic Counseling

Follow-up is a crucial step for the screening of neonatal genetic and metabolic diseases, which can directly influence the detection, diagnosis, efficacy of treatment, as well as the quality of neonatal screening. In view of the lack of follow-up, full understanding, and inconsistent requirement between various agencies and personnel in China, there is an urgent need for standardization. The Committee for Proficiency Testing of the Neonatal Genetic Metabolic Disease Screening Center of the National Health Committee of China has organized the writing of expert consensus for follow-up of neonatal genetic and metabolic disease screening after thorough discussion, so as to guide the follow-up work and improve its quality.
China ; Consensus ; Follow-Up Studies ; Genetic Diseases, Inborn ; diagnosis ; Humans ; Infant, Newborn ; Metabolic Diseases ; diagnosis ; genetics ; Neonatal Screening

Constipation is a common functional problem of the digestive system and may occur secondary to diet, drugs, endocrine diseases, metabolic diseases, neurological diseases, psychiatric disorders, or gastrointestinal obstruction. When there is no secondary cause, constipation is diagnosed as functional constipation. The first steps that should be taken to relieve symptoms are diet and lifestyle modifications, and if unsuccessful, laxative therapy should be initiated. If a patient does not respond to laxative therapy, diagnostic anorectal physiological tests are performed, though they are not routinely recommended. However, these tests may be considered earlier in patients strongly suspected to have a defecatory disorder. The revised guideline on the diagnosis and treatment of chronic constipation will undoubtedly aid the individualized management of chronic constipation in clinical practice.
Biofeedback, Psychology ; Constipation ; Diagnosis ; Diet ; Digestive System ; Digital Rectal Examination ; Endocrine System Diseases ; Humans ; Laxatives ; Life Style ; Metabolic Diseases

PURPOSE: Obesity is risk factor for nonalcoholic fatty liver disease (NAFLD). However, nonobese patients are also increasingly susceptible to NAFLD. The aim of this study was to compare the clinical characteristics of obese and nonobese pediatric patients with NAFLD. METHODS: We retrospectively studied 68 patients who were diagnosed with NAFLD between January 2010 and October 2016 at 10–18 years of age. Body mass index ≥95th percentile for age and sex was defined as obesity. Abdominal ultrasonography and laboratory, anthropometrics measurements were evaluated. RESULTS: Among the 68, 26 (38.2%) were nonobese patients. The ratio of male to female was 5.8:1, and the median age at diagnosis was 13 years (range, 10–17 years). Significant higher triglyceride (223.0 mg/dL vs. 145.9 mg/dL, P=0.047) and total cholesterol levels (211.6 mg/dL vs. 173.2 mg/dL, P=0.011) were shown in nonobese than obese patients. High-density lipoprotein cholesterol level < 40 mg/dL (hazard ratio [HR], 6.5; 95% confidence interval [CI], 2.13–7.10; P=0.048), total cholesterol level >200mg/dL (HR, 5.6; 95% CI, 1.23–15.31; P=0.038) and abdominal obesity (HR, 2.53; 95% CI, 1.22–4.68; P=0.013) were significant risk factors for NAFLD in nonobese patients. CONCLUSION: Nonobese patients present a substantial proportion of pediatric NAFLD cases. Significant abnormal lipid concentrations were found in nonobese and abdominal obesity was important risk factor for nonobese NAFLD.
Body Mass Index ; Cholesterol ; Diagnosis ; Female ; Humans ; Lipoproteins ; Male ; Metabolic Diseases ; Non-alcoholic Fatty Liver Disease* ; Obesity ; Obesity, Abdominal ; Pediatric Obesity ; Retrospective Studies ; Risk Factors ; Triglycerides ; Ultrasonography

PURPOSE: Newborn screening (NBS) programs are important for appropriate management of susceptible neonates to prevent serious clinical problems. Neonates admitted to neonatal intensive care units (NICU) are at a potentially high risk of false-positive results, and repetitive NBS after total parenteral nutrition is completely off results in delayed diagnosis. Here, we present the usefulness of a targeted next-generation sequencing (TNGS) panel to complement NBS for early diagnosis in high-risk neonates. MATERIALS AND METHODS: The TNGS panel covered 198 genes associated with actionable genetic and metabolic diseases that are typically included in NBS programs in Korea using tandem mass spectrometry. The panel was applied to 48 infants admitted to the NICU of Severance Children's Hospital between May 2017 and September 2017. The infants were not selected for suspected metabolic disorders. RESULTS: A total of 13 variants classified as likely pathogenic or pathogenic were detected in 11 (22.9%) neonates, including six genes (DHCR7, PCBD1, GAA, ALDOB, ATP7B, and GBA) associated with metabolic diseases not covered in NBS. One of the 48 infants was diagnosed with an isobutyl-CoA dehydrogenase deficiency, and false positive results of tandem mass screening were confirmed in two infants using the TNGS panel. CONCLUSION: The implementation of TNGS in conjunction with conventional NBS can allow for better management of and earlier diagnosis in susceptible infants, thus preventing the development of critical conditions in these sick infants.
Complement System Proteins ; Delayed Diagnosis ; Diagnosis ; Early Diagnosis ; Humans ; Infant ; Infant, Newborn ; Intensive Care Units, Neonatal ; Korea ; Mass Screening ; Metabolic Diseases ; Metabolism, Inborn Errors ; Oxidoreductases ; Parenteral Nutrition, Total ; Tandem Mass Spectrometry

PURPOSE: An unresolved inflammatory state contributes to the pathogenesis of periodontal disease and metabolic syndrome (MetS). Therefore, the purpose of this study was to evaluate the role of lipoxin A4 (LXA4), a proresolving lipid mediator, in the association between periodontal disease and MetS. METHODS: Sixty-seven patients with MetS and 65 patients without MetS were included in the study. Sociodemographic information was obtained via a questionnaire, and detailed medical diagnoses were made. Periodontal parameters (plaque index [PI], gingival index [GI], probing pocket depth [PD], and clinical attachment level [CAL]) and metabolic parameters were measured, and serum LXA4 levels were determined. The associations among MetS, periodontal parameters, and serum LX levels were evaluated by adjusted multivariate linear regression analyses. RESULTS: Patients with MetS were older and had a higher body mass index than patients without MetS. Periodontal parameters (PI, GI, PD, and CAL) were higher in patients with MetS than in those without MetS. Serum LXA4 levels were higher in patients without MetS. Multivariate linear regression analysis indicated a positive association between MetS and periodontal parameters (PD and CAL). Negative associations were established between MetS and LXA4 levels, and between LXA4 and periodontal parameters (PI, PD, and CAL). CONCLUSIONS: The presence of higher values of periodontal parameters in patients with MetS and the negative relationship of LXA4 with MetS and periodontal disease may support the protective role of proresolving lipid mediators in the association between periodontal disease and MetS.
Body Mass Index ; Diagnosis ; Humans ; Inflammation ; Linear Models ; Lipoxins ; Metabolic Syndrome X ; Periodontal Diseases ; Periodontal Index

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

metabolic abnormalities—such as hyperammonemia, metabolic acidosis, and ketosis—associated with complaints of vomiting, feeding difficulties, and hypotonia during the neonatal period. However, in rare late-onset cases, mild or vague symptoms make the diagnosis more challenging. Even though acute pancreatitis is relatively uncommon in children, it can occur in association with PA. We present the case of a 4-year-old child who was admitted owing to the complaint of recurrent pancreatitis and had not previously been diagnosed with having metabolic disease. During inpatient treatment for acute pancreatitis, convulsions occurred with concomitant hyperammonemia, metabolic acidosis, coagulopathy, and shock 1 week after the administration of total parenteral nutrition. He was diagnosed to have PA after a metabolic work-up and confirmed to have novel mutation by molecular genetic analysis. Because children with PA may have acute pancreatitis, although rare, vomiting and abdominal pain should raise a suspicion of acute pancreatitis. On the contrary, even among children who have never been diagnosed with a metabolic disease, if a child has recurrent pancreatitis, metabolic pancreatitis caused by organic acidemia should be considered.]]>
Abdominal Pain ; Acidosis ; Child ; Child, Preschool ; Diagnosis ; Diethylpropion ; Humans ; Hyperammonemia ; Inpatients ; Metabolic Diseases ; Methylmalonyl-CoA Decarboxylase ; Molecular Biology ; Muscle Hypotonia ; Pancreatitis ; Parenteral Nutrition, Total ; Propionic Acidemia ; Seizures ; Shock ; Vomiting