Epidemiology research has found that ABO blood group and the gene coding ABO glycosyltransferases are associated with many human diseases. The activity of ABO glycosyltransferases varies with different blood types, mediating different glycosylation modifications. The variation in glycosylation level might be the risk factor of specific disease. Based on the literature retrieval and analysis, glycosylation levels regulated by ABO glycosyltransferases mainly affect the ABH blood group antigens and von Willebrand factor (vWF). By modulating key glycosylation components, ABO glycosyltransferases partly determine the activity or expression levels of the ABH antigens and vWF, thereby affecting the development and progression of diseases. Exploring the pathogenic mechanisms of ABO glycosyltransferases can improve the understanding of the molecular pathology of related diseases and provide reference for clinical research and application.

Objective:To summarize the long-term efficacy of nicotinamide in treating pediatric early-onset progressive encephalopathy with brain edema and (or) leukoencephalopathy-2 (PEBEL2) caused by NAXD gene variation .Methods:This was a case report conducted from February 2019 to January 2025. The long-term efficacy of nicotinamide was observed by following up a child with PEBEL2 who received the treatment in the Department of Neurology, Beijing Children′s Hospital Affiliated to Capital Medical University. The clinical data included changes in skin lesions, neurological symptoms. The modified Rankin scale (mRS) was used to evaluate the recovery of neurological function.Results:A boy was diagnosed with PEBEL2 caused by NAXD gene variation via genetic testing at Beijing Children′s Hospital Affiliated to Capital Medical University in February 2019, when he was 4 years and 6 months of age. Immediately after diagnosis, nicotinamide treatment was initiated at an initial dose of 100 mg/d, which was increased by 100 mg per week and gradually increased to 500 mg/d; meanwhile, other therapeutic drugs were gradually discontinued. After 1 year and 8 months of treatment, the child′s skin lesions had completely resolved; at the 2-year follow-up, dystonia in both upper limbs and swallowing dysfunction was alleviated significantly; by 2.5-year follow-up, his cognitive function also showed improvement. When the child was treated with 500 mg/d for 3 years, a rash appeared around the mouth. After the dose was reduced to 250 mg/d, the rash resolved, and the dose of 250 mg/d was maintained until the last follow-up. At the last follow-up in January 2025, the child was 10 years and 5 months of age. His mRS score decreased from 5 (before treatment) to 4. During the 6-year of continuous nicotinamide treatment, the child′s condition remained stable without progression. Drug-related skin rashes occurred, but no severe drug-related adverse reactions were observed.Conclusions:PEBEL2 is a treatable mitochondrial disease. Nicotinamide treatment can effectively improve skin lesions and neurological symptoms in PEBEL2 patients, and the long-term administration demonstrates a favorable safety profile.

Epidemiology research has found that ABO blood group and the gene coding ABO glycosyltransferases are associated with many human diseases. The activity of ABO glycosyltransferases varies with different blood types, mediating different glycosylation modifications. The variation in glycosylation level might be the risk factor of specific disease. Based on the literature retrieval and analysis, glycosylation levels regulated by ABO glycosyltransferases mainly affect the ABH blood group antigens and von Willebrand factor (vWF). By modulating key glycosylation components, ABO glycosyltransferases partly determine the activity or expression levels of the ABH antigens and vWF, thereby affecting the development and progression of diseases. Exploring the pathogenic mechanisms of ABO glycosyltransferases can improve the understanding of the molecular pathology of related diseases and provide reference for clinical research and application.

Objective:To summarize the long-term efficacy of nicotinamide in treating pediatric early-onset progressive encephalopathy with brain edema and (or) leukoencephalopathy-2 (PEBEL2) caused by NAXD gene variation .Methods:This was a case report conducted from February 2019 to January 2025. The long-term efficacy of nicotinamide was observed by following up a child with PEBEL2 who received the treatment in the Department of Neurology, Beijing Children′s Hospital Affiliated to Capital Medical University. The clinical data included changes in skin lesions, neurological symptoms. The modified Rankin scale (mRS) was used to evaluate the recovery of neurological function.Results:A boy was diagnosed with PEBEL2 caused by NAXD gene variation via genetic testing at Beijing Children′s Hospital Affiliated to Capital Medical University in February 2019, when he was 4 years and 6 months of age. Immediately after diagnosis, nicotinamide treatment was initiated at an initial dose of 100 mg/d, which was increased by 100 mg per week and gradually increased to 500 mg/d; meanwhile, other therapeutic drugs were gradually discontinued. After 1 year and 8 months of treatment, the child′s skin lesions had completely resolved; at the 2-year follow-up, dystonia in both upper limbs and swallowing dysfunction was alleviated significantly; by 2.5-year follow-up, his cognitive function also showed improvement. When the child was treated with 500 mg/d for 3 years, a rash appeared around the mouth. After the dose was reduced to 250 mg/d, the rash resolved, and the dose of 250 mg/d was maintained until the last follow-up. At the last follow-up in January 2025, the child was 10 years and 5 months of age. His mRS score decreased from 5 (before treatment) to 4. During the 6-year of continuous nicotinamide treatment, the child′s condition remained stable without progression. Drug-related skin rashes occurred, but no severe drug-related adverse reactions were observed.Conclusions:PEBEL2 is a treatable mitochondrial disease. Nicotinamide treatment can effectively improve skin lesions and neurological symptoms in PEBEL2 patients, and the long-term administration demonstrates a favorable safety profile.

Objective:To summarize the clinical characteristics of children carrying the m.8344A>G variant of MT-TK gene.Methods:A case series study was conducted to retrospectively collect data of 22 children with mitochondrial disease caused by MT-TK gene m.8344A>G variation who were treated at the Department of Neurology of Beijing Children′s Hospital of Capital Medical University from January 2012 to January 2024. Their clinical data, laboratory tests, muscle pathology, genetic testing, and the follow-up results were analyzed. Pearson correlation analysis was used for correlation analysis.Results:Among the 22 children, there were 13 boys and 9 girls. The age of onset was 5.00 (2.75, 9.00) years. Fifteen children had myoclonic epilepsy with ragged-red fibers (MERRF), 3 had Leigh syndrome (LS), and 4 had LS-MERRF overlap syndrome (LS-MERRF). Myoclonus presented and worsened progressively in all 15 MERRF children, with 10 as the initial symptom and 5 developing progressively during the disease course. Myoclonus was predominantly focal, worsening with fine motor tasks or stress. Electroencephalogram monitoring in the 15 MERRF children revealed myoclonic seizures in 10 children, with 6 classified as myoclonic epilepsy, and 4 as subcortical myoclonus. Two children had generalized myoclonic seizures, and 1 each had absence seizures and generalized seizures. Twelve children had cerebellar ataxia, 10 children exhibited exercise intolerance, and 8 children had muscle weakness. Magnetic resonance imaging (MRI) revealed periventricular white matter involvement in 1 child and bilateral hippocampal involvement in 1 child, likely due to frequent seizures. All 3 children with LS exhibited developmental regressions, accompanied with 2 symptoms include cerebellar ataxia, muscle weakness, and dysphagia. The clinical manifestations of 4 LS-MERRF overlap children presented with combined features of MERRF and LS. Cranial MRI in the 7 LS and LS-MERRF children showed brainstem involvement (all affecting the midbrain) in 6 children and basal ganglia involvement in 4 children. Among the 22 children, 12 had m.8344A>G variant levels >90%, 3 had >80%-90%, 4 had >70%-80%, and 3 had >60%-70%. Higher variant level correlated with the LS phenotype and earlier onset age ( r=0.47, -0.50; P=0.018 and 0.029, respectively). Sanger sequencing in 19 mothers revealed m.8344A>G variations in 18, with 4 showing exercise intolerance. Follow-up of 13 children on antimyoclonic treatment showed>75% reduction in seizures with levetiracetam monotherapy in 2 children, with combination therapy required in others. Most achieved >50% seizures reduction within 2 years, but the effectiveness declined with disease progression. Conclusions:The m.8344A>G variant is rare, with MERRF being the most common phenotype, while LS and LS-MERRF are less common. Children with higher ratio of the m.8344A>G variant are more likely to present LS phenotype. Myoclonus, primarily focal, is a key feature, with levetiracetam as the first-line treatment and benzodiazepines recommended for refractory cases.

Objective:To investigate the surgical treatment methods of femoral artery pseudoaneurysm combined with infectious wounds and to evaluate the clinical effects.Methods:The retrospective observational research method was used. Twelve patients with femoral artery pseudoaneurysm combined with infectious wounds who met the inclusion criteria were admitted to Nanjing University of Chinese Medicine Wuxi Integrated Traditional Chinese and Western Medicine Hospital (Affiliated Hospital of Jiangnan University) from October 2014 to September 2022, including 6 males and 6 females, aged from 46 to 78 years. In the primary operation, debridement, tumor resection, and artery suture/venous grafting to repair the artery/artery ligation were performed, and the wound area after tumor resection ranged from 4.0 cm×1.5 cm to 12.0 cm×6.5 cm. Wounds that could be sutured were treated with tension reduction suture and extracutaneous continuous vacuum sealing drainage (VSD), while large wounds that could not be sutured were treated with VSD to control infection. In the secondary operation, tension reduction suture was performed to repair the wounds that could be sutured; large wounds were repaired with adjacent translocated flaps with area of 9.0 cm×5.0 cm to 15.0 cm×7.0 cm. Additionally, when the length of the exposed femoral artery was equal to or over 3.0 cm, the wounds were repaired with additional rectus femoris muscle flap with length of 15.0 to 18.0 cm. The donor areas of the flaps were directly sutured. The wound with artery ligation was treated with stamp skin grafting and continuous VSD. The bacterial culture results of the wound exudate samples on admission were recorded. The intraoperative blood loss, the location of femoral artery rupture, the artery treatment method, and the wound repair method in the primary operation were recorded, and the durations of catheter lavage, catheter drainage, and VSD treatment, and the drainage volume after the operation were recorded. The repair method of wounds in the secondary operation, the durations of catheter drainage and VSD treatment, and the total drainage volume after the operation were recorded. The survivals of flap/muscle flap/stamp skin grafts were observed, and the wound healing time was recorded. Follow-up after discharge was performed to evaluate the quality of wound healing and the walking function and to check whether the pulsatile mass disappeared. B-ultrasound or computed tomography angiography (CTA) was performed again to observe potential pseudoaneurysm recurrence and evaluate the patency of blood flow of the femoral artery.Results:The bacterial culture results of wound exudate samples of all the patients were positive on admission. The blood loss was 150 to 750 mL in the primary operation. The arterial ruptures were located in the femoral artery in 8 cases, in the external iliac artery in 2 cases, and in the femoral arteriovenous fistula in 2 cases. Six cases received direct artery suture, 4 cases received autologous great saphenous vein grafting to repair the artery, 1 case received autologous great saphenous vein bypass surgery, and 1 case received artery ligation. The primary wound suture was performed in 4 cases, along with catheter lavage for 3 to 5 days, catheter drainage for 4 to 6 days, VSD treatment for 5 to 7 days, and a total drainage volume of 80 to 450 mL after the surgery. In the secondary operation, the wounds were sutured directly in 3 cases along with catheter drainage for 2 to 3 days, the wound was repaired with scalp stamp skin graft and VSD treatment for 5 days in 1 case, the wounds were repaired with adjacent translocated flaps in 2 cases with catheter drainage for 2 to 3 days, and the wounds were repaired with rectus femoris muscle flaps+adjacent translocated flaps in 2 cases with catheter drainage for 3 to 5 days . The total drainage volume after the secondary operation ranged from 150 to 400 mL. All the skin flaps/muscle flaps/skin grafts survived after operation. The wound healing time ranged from 15 to 36 days after the primary operation. Follow-up of 2 to 8 months after discharge showed that the wounds of all patients healed well. One patient who underwent femoral artery ligation had calf amputation due to foot ischemic necrosis, and the rest of the patients regained normal walking ability. The pulsatile mass disappeared in inguinal region of all patients. B-ultrasound or CTA re-examination in 6 patients showed that the blood flow of femoral artery had good patency, and there was no pseudoaneurysm recurrence.Conclusions:Early debridement, tumor resection, and individualized artery treatment should be performed in patients with femoral artery pseudoaneurysm combined with infected wounds. Besides, proper drainage and personalized repair strategy should be conducted according to the wound condition to achieve a good outcome.

Objective To investigate the clinical value of 256-slice CT angiography (CTA) in diagnosing coronary artery fistula(CAF).Methods A total of 18 patients with CAF were analyzed retrospectively.The raw data were transferred to the work station.Image reconstruction techniques were employed, including multiplanar reconstruction (MPR),curved planar reconstruction (CPR),maximum intensity projection (MIP) and volume render (VR).Results Coronary artery angiography showed fistula affluxed to the pulmonary artery in 5 cases,affluxed to the coronary sinus in 5 cases,affluxed to the right atrium in 3 cases,affluxed to the left atrium in 3 cases, affluxed to the right ventricle in 2 cases.The blood flow from abnormal vessels to pulmonary arteries was demonstrated in 5 patients,and injection sign or hyper-density of contrast material in the main pulmonary artery was seen.The tortuous vascular networks on the surface of the main pulmonary artery trunk were seen in 2 cases.Formation of aneurysm was seen in 3 cases.Conclusion 256-slice CTA can precisely show the detailed anatomy variations and heomodynamic information of CAF, and directly display the abnormal vessels with multiple image reconstruction techniques.

Objective To investigate the clinical value of 64-slice spiral computed tomography(64-MSCT)triple-phase enhanced scan in diagnosis of lymphatic metastasis of gastric cancer.Methods Thirty patients with gastric cancer underwent plain and triple-phase enhanced scan by using 64-MSCT to analyze the relevant parameters of lymphatic metastasis.Results The four parameters de-termined metastatic perigastric lymph node as follows:①the short diameter ≥6 mm,②the ratio of short-to-long diameter ≥0.6,③the CT value in the portal venous phase≥ 65 HU,④the difference of CT values between portal venous phase and plain scan≥35 HU.The sensitivity and specificity of combining two parameters (①+②)in diagnosing metastatic lymph node were 90.5% and 29.0%,respectively.The sensitivity and specificity of combining three parameters (①+②+③)were 98.2% and 1 9.4%,respec-tively.The sensitivity and specificity of combining four parameters (①+②+③+④)were 99.7% and 13.2%,respectively.In ad-dition,metastatic lymph nodes were considered if they were ring-enhancement,or adhesions of several lymph nodes.Conclusion The use of 64-MSCT triple-phase enhanced scan and synthesis of various parameters of lymph nodes could lead to reliable diagnosis of lymphatic metastasis in gastric cancer with rapid,non-invasive,high sensitive and specific features.