OBJECTIVE: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel. METHODS: A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55). RESULTS: Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development. CONCLUSION The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans ; Infant, Newborn ; Neonatal Screening/methods* ; Female ; Male ; Lipid Metabolism, Inborn Errors/epidemiology* ; Acyl-CoA Dehydrogenase/genetics* ; China/epidemiology* ; Follow-Up Studies

Gallbladder carcinoma is a common malignant tumor of the biliary system characterized by poor specificity of early symptoms， a high degree of malignancy， and rapid progression， and it is difficult to make an early diagnosis. Gallstones and gallbladder polyps are considered the most common risk factors for gallbladder carcinoma. Ultrasound is the preferred examination， while CT， MRI， and PET also have their own advantages. There is a lack of radical treatment methods for gallbladder carcinoma， and surgical operation remains the preferred treatment method for gallbladder carcinoma； however， due to the rapid progression of this disease， most patients have lost the opportunity for surgery at the time of diagnosis. A combination of various treatment modalities， such as radiochemotherapy， targeted therapy， and immunotherapy， has improved the prognosis of patients to a certain extent， but with an unsatisfactory long-term therapeutic effect. Therefore， it is of particular importance to give priority to prevention rather than treatment and emphasize early identification and treatment.

OBJECTIVES: To study the phenomenon of pulmonary hypostasis in corpses of various causes of death, and to explore the potential value of this phenomenon in assisting forensic pathological diagnosis of drowning. METHODS: A total of 235 cases with clear cause of death through systematic autopsy were collected from January 2011 to June 2021 in Guangzhou. According to the location of body discovery, the cases were divided into the water body group (97 cases) and the non-water body group (138 cases), and the water body group was further divided into the water drowning group (90 cases) and the water non-drowning group (7 cases). Non-water body group was further divided into the non-water drowning group (1 case) and the non-water non-drowning group (137 cases). Three senior forensic pathologists independently reviewed autopsy photos to determine whether there was hypostasis in the lungs. The detection rate of pulmonary hypostasis was calculated. RESULTS: The detection rate of pulmonary hypostasis in the water drowning group (90 cases) was 0, and the negative rate was 100%. The detection rate of pulmonary hypostasis in the water non-drowning group (7 cases) was 100% and the negative rate was 0. The detection rate of pulmonary hypostasis in the water body group and in the non-water body group (after excluding 2 cases, 136 cases were calculated) was 7.22% and 87.50%, respectively. There were statistically significant differences in the detection rate of pulmonary hypostasis between water body group and non-water body group, and between water drowning group and water non-drowning group (P<0.05). CONCLUSIONS The disappearance of pulmonary hypostasis can be used as a specific cadaveric sign to assist in the forensic pathological diagnosis of drowning.
Autopsy ; Drowning/pathology* ; Forensic Pathology ; Humans ; Lung/pathology* ; Water

Objective:To understand the incidence and genetic characteristics of thalassemia in newborns in Baisha Li Autonomous County, Hainan Province, and to provide data support for government decision-making departments to formulate appropriate policies for prevention and control of thalassemia.Methods:With the help of Newborn Disease Screening Network of Hainan Province, samples of dry blood spots on the heels of newborns born in Baisha Li Autonomous County from January to June 2020 were collected based on the principle of informed consent. Fluorescent PCR melting curve method was used to detect the common types of thalassemia genes in Chinese population, and some samples were verified by the PCR + flow-through hybridization method. Samples of suspected new or rare mutations were sent to gene companies for sequencing analysis.Results:A total of 391 samples of neonatal dry blood spots were collected, and 252 samples with thalassemia genes were detected, the detection rate was 64.45% (252/391). Among them, 213 samples with α-thalassemia genes were detected, and the detection rate was 54.48% (213/391); 13 samples with β-thalassemia genes were detected, and the detection rate was 3.32% (13/391); 26 samples with α- and β-thalassemia genes were detected, and the detection rate was 6.65% (26/391). Among the above mentioned thalassemia genotypes, 1 case of rare type α-thalassemia -α 4.2/HKαα and 1 case of rare type β-thalassemia β CD39/β N were detected. According to ethnicity, 176 samples with thalassemia genes were detected in 238 Li samples, with a detection rate of 73.95% (176/238); 67 samples with thalassemia genes were detected in 137 Han samples, with a detection rate of 48.91% (67/137); 9 samples with thalassemia genes were detected in 16 other ethnic samples, with a detection rate of 56.25% (9/16). Conclusions:The detection rate of neonatal thalassemia genes is relatively high in Baisha Li Autonomous County, Hainan Province, and α-thalassemia is the most common. It is recommended that relevant government departments of Hainan Province should carry out genetic testing of neonatal thalassemia in Baisha Li Autonomous County as soon as possible to ensure the quality of life of the newborns.

Objective To study the MRI manifestations of foot injuries in amateur marathoners and the diagnostic value of MRI for foot injuries. Methods Forty?eight amateur marathoners were prospectively recruited from October 2018 to March 2019. Participants were grouped according to the FASS criteria. All participants underwent bilateral foot MRI examinations. The MRI features of foot in amateur marathoners with and without foot pain were analyzed.The association with gender, age, time to participate in marathon, amount of running per week, number of times to complete the whole marathon and the symptoms of foot pain was studied. Results There were 28 sides in FASS in grade 0, including 8 males and 20 females, 8 hydrocele of the first metatarsophalangeal joint, 6 edema of bone marrow, 4 edema of soft tissue, 4 hydrocele of tendon sheath, and 6 without abnormal manifestations of MRI. There were 68 sides in FASS grade 1, including 42 males and 26 females, 38 Achilles tendinitis, 14 plantar fasciitis, 12 Achilles tendon bursitis and 4 posterior ankle impingement syndrome. The incidence of foot pain in amateur marathoners was related to gender(OR=1.060, P=0.043), unrelated to age(OR=0.248, P=0.078), number of marathons completed(OR=1.006, P=0.956), time to participate in marathon(OR=1.008,P=0.944), amount of running per week (OR=0.971,P=0.407). Conclusion Among amateur marathon runners, the foot pain is mainly caused by Achilles tendon and plantar fascia, while those without foot pain are mainly characterized by joint effusion, tendon sheath effusion and bone marrow edema. Gender is the only factor affecting the incidence of foot pain in amateur marathoners. MRI examination is an effective method to determine foot injury and has important clinical application value in the diagnosis and treatment of foot injury.

Objective: To study the MRI manifestations of foot injuries in amateur marathoners and the diagnostic value of MRI for foot injuries. Methods: Forty-eight amateur marathoners were prospectively recruited from October 2018 to March 2019. Participants were grouped according to the FASS criteria. All participants underwent bilateral foot MRI examinations. The MRI features of foot in amateur marathoners with and without foot pain were analyzed.The association with gender, age, time to participate in marathon, amount of running per week, number of times to complete the whole marathon and the symptoms of foot pain was studied. Results: There were 28 sides in FASS in grade 0, including 8 males and 20 females, 8 hydrocele of the first metatarsophalangeal joint, 6 edema of bone marrow, 4 edema of soft tissue, 4 hydrocele of tendon sheath, and 6 without abnormal manifestations of MRI. There were 68 sides in FASS grade 1, including 42 males and 26 females, 38 Achilles tendinitis, 14 plantar fasciitis, 12 Achilles tendon bursitis and 4 posterior ankle impingement syndrome. The incidence of foot pain in amateur marathoners was related to gender (OR=1.060, P=0.043), unrelated to age (OR=0.248, P=0.078), number of marathons completed (OR=1.006, P=0.956), time to participate in marathon (OR=1.008, P=0.944), amount of running per week (OR=0.971, P=0.407). Conclusion Among amateur marathon runners, the foot pain is mainly caused by Achilles tendon and plantar fascia, while those without foot pain are mainly characterized by joint effusion, tendon sheath effusion and bone marrow edema. Gender is the only factor affecting the incidence of foot pain in amateur marathoners. MRI examination is an effective method to determine foot injury and has important clinical application value in the diagnosis and treatment of foot injury.

Objective To study the optimal technology parameters of the enrichment process for total flavonoids of Crataegus pinnatifida Bge,with macroporous Resin. Methods The enrichment process was studied by orthogonal experiment design using orthogonal from L9(34) with the content of total flavonoids from Crataegus pinnatifida Bge,as indexes, the factors such as adsorption capacity, the column diameter-height ratio, eluant volume and adsorption time were investigated. Results The optimum elution parameters were as follows: the eluant volume of 60% alcohol—the wet resin amount (g)—the sample volume (mL) was 2:1, the sample was 4:1, the column diameter-height ratio was 1:6 , the adsorption time was 1h, respectively. Conclusion This process enriching the total flavonoids of Crataegus pinnatifida Bge,is feasible.

Objective Using CT three-dimensional image technique to observe the pulmonary vein stenosis of circumferential pulmonary vein ablation (CPVA) for atrial ifbrillation (AF) on the structure of pulmonary vein before and after radiofrequency ablation. Methods 28 patients with AF who underwent CPVA were followed-up for a mean (6.5±3.9) months.The results of Pulmonary vein morphology study was compared with analysis of preablation, after following up radiofrequency catheter alation (6.5±3.9) months. Pulmonary vein diameters, cross-sectional area and left atrial volume were measured before and after CPVA using 64-slice multidector computed tomography (CT). Results Mild stenosis of pulmonary vein maximum diameter and pulmonary minimum diameter were 61.6%and 56.3%after CPVA. Moderate stenosis of pulmonary vein maximum diameter and pulmonary minimum diameter were 3.6%and 5.4%. All patients does not present symptoms of pulmonary vein stenosis at rest on during excercise during follow up. Conclusions Mild and moderate asymptomatic pulmonary vein stenosis may present in some patients after CPVA.

Objective To explore the correlation between hepatitis B virus large surface protein(HBV-LP)and hepatitis B virus deoxyribonucleic acid(HBV-DNA),analyze the clinical significance of detecting the two index dynamically for diagnosis and treatment of hepatitis B.Methods Enzyme linked immunosorbent assay(ELISA)and fluorescent quantitation polymerase chain reaction(FQ-PCR)were used to detect the levels of HBV-LP and HBV-DNA in serum specimen of 230 hepatitis B patients.Results There was a positive correlation between the content of HBV-LP and copy numbers of HBV-DNA in serum of hepatitis B positive cases(r=0.84,P＜0.01).The positive rate was 84.78％ in HBV-LP and 84.35％ in HBV-DNA of 230 HBV positive cases.As a result there was no significant difference(P＞0.05)in this study.Therefore,the positive rate was 63.63 ％(35/55)in HBV-LP and 58.18％(32/55)in HBV-DNA of 55 HBV negative cases.There was also no significant difference(P＞0.05)in this study.However,the positive rate of HBV-LP(82.47％)was higher than HBE(52.06％)in the 194 HBV-DNA positive cases.There was significantly different(P＜0.01).Conclusion HBV-LP and HBV-DNA are the significant index of the degree of hepatitis B virus replication in hepatitis B positive cases,especially in determining the virus replication and prognosis of treatment in HBe Ag negative,providing the reliable laboratory data for the clinical diagnosis and treatment.

Objective To investigate the normal range of the femoral neck α-angle in normal Chinese adults and classify the morphology of the anterior femoral head-neck junction on CT-based images. Methods Six hundred and fifty-two adult patients (Bilateral: 459 patients, unilateral:193 patients) with the total of 1111 hips (552 left; 559 right, and 654 male; 457 female) without known diseases affecting the proximal femur or symptoms of femoroacetabular impingement (FAI) underwent 64-slice CT scanning for medical purpose with the hip included in the scan range. The volume CT data was used for further analysis in this study. Oblique sagittal plane images paralleling to the axis of the femoral neck were reconstructed with the volume CT data, the image through the middle of the femoral neck was chosen to measure α-angle with AutoCAD2006 software. The morphology of the anterior femoral head-neck junction was classified. Analysis of variance and t-test were performed with SPSS 15.0. Results The mean value of α-angle of all 1111 hips was 38. 2° ±5.3°. The normal range of α-angle in Chinese adults was 28°to 49°.The mean value of left and right α-angles were 38. 0° ±5. 3°and 38.4° ±5. 3° ,respectively, and there was no statistically significant difference between both sides (t = - 1. 231 ,P ＞ 0. 05 ). Males have greater α-angles than females 39. 2° ±5. 8 vs 36. 8° ±4. 1°, with t = -8. 180, P ＜0. 01. There was no statistically significant differences of the α-angles of the seven age groups (F = 1. 765, P ＞ 0. 05 ). In all 1111 proximal femora, 168 were classified as concave type, accounting for 15. 1%, with a mean α-angle of 31.2° ±2. 0°,726 were smooth type, accounting for 65.4%, with a mean α-angle of 37.4° ± 2. 4°, and 217 were flat type, accounting for 19.5%, with a mean α-angle of 46. 4° ±3. 8°. The differences of the α-angles of the three groups reached statistical significance ( F = 1636. 107, P ＜ 0. 01 ). Conclusions The morphology of anterior femoral head-neck junction can be classified into three types: concave type (type Ⅰ ), smooth type (type Ⅱ ) and flat type (type Ⅲ ). This classification could directly reflect α-angle, which helps to recognize the variation of the offset of anterior femoral head-neck junction. This study offers basic data for the diagnosis of FAI.