Objective:To analyze the relationship between hematological and genotype characteristics of fetuses and patients with hemoglobin (Hb) H disease and their natural disease progression.Methods:From 2010 to 2022, a total of 1 252 blood samples from fetuses and patients with Hb H disease who visited the Guangxi Zhuang Autonomous Regional Maternal and Child Health Hospital were collected (including 174 umbilical cord blood samples, 1 062 peripheral blood samples from patients over 2 years old, and 16 peripheral blood samples from patients with rare cases of genotype Hb H). Additionally, 278 peripheral blood samples were collected from patients aged 0 - 2 years old with Hb H 3.7, Hb H 4.2, Hb H CS, and Hb H WS disease for the study of trends in red blood cell development. Multiple probe hybridization and microarray comparative genomic hybridization technology combined with first-generation Sanger sequencing were used for rare mutation detection.Results:Among the 1 062 Hb H disease patients over 2 years old, 62.34% (662/1 062) had gene deletion (--/-α), of which Hb H 3.7 (-- SEA/-α 3.7) and Hb H 4.2 (-- SEA/-α 4.2) were the most common, accounting for 42.28% (449/1 062) and 19.11% (203/1 062) of the total, respectively. Among the non-deletion genotypes (--/αα T or α Tα/αα T), Hb H CS (-- SEA/α CS), Hb H WS (-- SEA/α WS) and α CSα/α CSα accounted for 16.85% (179/1 062), 16.48% (175/1 062) and 1.98% (21/1 062), respectively. The 81.12% (537/662) of patients with deletional Hb H disease showed mild to moderate anemia, with Hb H detection rates ranging from 75% to 80%. Among non-deletional Hb H disease, Hb H WS disease showed the mild (blood Hb concentration > 95 g/L in 90% of patients) phenotype while Hb H CS and Hb H QS (-- SEA/αα QS) patients had moderate to severe anemia, with Hb H detected in peripheral blood at higher levels than in other types of Hb H disease patients. Except for Hb H CS and Hb H QS, which did not show a significant increase in Hb A2 levels when complicated with β-thalassemia, Hb A2 levels were increased (> 3.5%) in all other types of Hb H disease patients. When Hb H disease was complicated with β-thalassemia, Hb H peaks were not detected in either type of Hb H disease. The results of red blood cell development trend detection showed that erythrocyte counts were elevated in patients with Hb H disease compared to their normal counterparts; whereas, blood Hb, mean erythrocyte volume (MCV) and mean erythrocyte hemoglobin content (MCH) were lower than in their normal counterparts ( P < 0.05) and decreased to the minimum at 6 months to 1 year of age. Patients with Hb H CS disease, as the most severe form of anemia, had the highest MCV values ( P < 0.001). The results of fetal cord blood with Hb H disease showed that α CSα/α CSα caused severe intrauterine anemia, followed by Hb H QS and Hb H CS. The content of Hb Bart's in umbilical cord blood was negatively correlated with the severity of anemia ( rs = - 0.58, P < 0.001). When Hb H disease was complicated with β-thalassemia, there was no significant improvement in fetal anemia, and the Hb Bart's content did not change significantly ( P > 0.05). In addition, Hb H 21.9 (-α 21.9kb/-- SEA) and Hb H 2.4 (-α 2.4/-- SEA) were common in patients with deletion rare Hb H. In patients with non-deletion rare Hb H, αα Amsterdam-A1/-- SEA and αα Hb G-Georgia/-- SEA were both first reported. Conclusions:There is heterogeneity in clinical manifestations of patients with different types of Hb H disease or same type of Hb H disease at different developmental stages. When patients with Hb H are complicated with β-thalassemia, the phenotype of patients with the deletion type is improved, while that of patients with the non-deletion type is not. Compared to normal individuals, patients with Hb H disease have lower blood Hb concentration, MCV and MCH, and more rapid physiological changes in red blood cells.

Objective:To explore the feasibility of a method based on neuroimaging and surface markers for locating scalp projection of intracranial lesions.Methods:The clinical data of 46 patients who were used ‘double-circle method’ for locating scalp projection of intracranial lesions at Department of Neurosurgery,the First Affiliated Hospital of Xiamen University from January to June 2021 were retrospective analyzed. All patients with 2 electrodes(artificial fiducials) randomly attached to scalp had been examed thin-layer brain CT. The distances from the center of each fiducial to the root of the nose and tragus were measured through the images. A compass was used to draw two arcs with the root of nose and the tragus as the center and the pre-measured distance as the radius on patient′s scalp. Then two arcs′ intersection on the scalp was the fiducial. The method was named ‘double-circle method’. Two neurosurgeons were arranged to perform fiducial identification with double-circle method, and record the error between the result and the actual fiducial point.Independent sample t test was used for data comparison, and Kappa test was used to analysis the inter-group consistency. Results:Ninety-two fiducial points of 46 patients were collected. Time consuming of doctor A was (8.1±2.3) minutes(range:5 to 15 minutes)and doctor B was (8.9±3.5) minutes(range:4 to 17 minutes).The positioning error from the doctor A was (4.4±2.4)mm(range:0 to 12 mm) and doctor B was(4.2±2.6) mm(range:0 to 14 mm)( t=-0.575, P=0.567),the difference was not statistically significant. The Kappa value of the consistency test of error between two doctors was 0.517( P=0.001).The consistency was moderate.Eight patients used ‘double-circle method’ and neuronavigation for locating scalp projection of intracranial lesions at the same time. The diameter of the lesions was (3.8±0.9)cm (range: 2.6 to 5.1 cm), and the positioning error of the ‘double-circle method’ and navigation was (4.0±1.9) mm(range: 1 to 6 mm), and all patients were confirmed to be accurately located during surgery. Conclusion:‘Double-circle method’ is a simple,convenient and accurate way in locating intracranial lesions and has certain clinical significance.

Objective:To explore the feasibility of a method based on neuroimaging and surface markers for locating scalp projection of intracranial lesions.Methods:The clinical data of 46 patients who were used ‘double-circle method’ for locating scalp projection of intracranial lesions at Department of Neurosurgery,the First Affiliated Hospital of Xiamen University from January to June 2021 were retrospective analyzed. All patients with 2 electrodes(artificial fiducials) randomly attached to scalp had been examed thin-layer brain CT. The distances from the center of each fiducial to the root of the nose and tragus were measured through the images. A compass was used to draw two arcs with the root of nose and the tragus as the center and the pre-measured distance as the radius on patient′s scalp. Then two arcs′ intersection on the scalp was the fiducial. The method was named ‘double-circle method’. Two neurosurgeons were arranged to perform fiducial identification with double-circle method, and record the error between the result and the actual fiducial point.Independent sample t test was used for data comparison, and Kappa test was used to analysis the inter-group consistency. Results:Ninety-two fiducial points of 46 patients were collected. Time consuming of doctor A was (8.1±2.3) minutes(range:5 to 15 minutes)and doctor B was (8.9±3.5) minutes(range:4 to 17 minutes).The positioning error from the doctor A was (4.4±2.4)mm(range:0 to 12 mm) and doctor B was(4.2±2.6) mm(range:0 to 14 mm)( t=-0.575, P=0.567),the difference was not statistically significant. The Kappa value of the consistency test of error between two doctors was 0.517( P=0.001).The consistency was moderate.Eight patients used ‘double-circle method’ and neuronavigation for locating scalp projection of intracranial lesions at the same time. The diameter of the lesions was (3.8±0.9)cm (range: 2.6 to 5.1 cm), and the positioning error of the ‘double-circle method’ and navigation was (4.0±1.9) mm(range: 1 to 6 mm), and all patients were confirmed to be accurately located during surgery. Conclusion:‘Double-circle method’ is a simple,convenient and accurate way in locating intracranial lesions and has certain clinical significance.

OBJECTIVE: To investigate the effect of environmental estrogen bisphenol A (BPA) exposure on apoptosis of mouse ovarian preantral follicular granulosa cells and ovarian development and explore the underlying mechanism. METHODS: Mouse ovarian preantral follicular granulosa cells were isolated from female ICR mice at postnatal day (PND) 10 and cultured RESULTS: Compared with the control cells group, the isolated cells exposed to a low concentration of BPA (50 μmol/L) showed a significantly lowered apoptosis rate, increased mitochondrial membrane potential, and enhanced cellular proliferation ( CONCLUSIONS BPA can concentration-dependently regulate the function of ovarian preantral follicular granulosa cells in mice and potentially affects both the pregnant mice and the offspring female mice in light of early ovarian development.
Animals ; Apoptosis ; Benzhydryl Compounds ; Female ; Granulosa Cells ; Mice ; Mice, Inbred ICR ; Ovarian Follicle ; Phenols ; Pregnancy

Activation of inflammatory responses regulates the transmission of pain pathways through an integrated network in the peripheral and central nervous systems. The immunopotentiator thymosin alpha-1 (Tα1) has recently been reported to have anti-inflammatory and neuroprotective functions in rodents. However, how Tα1 affects inflammatory pain remains unclear. In the present study, intraperitoneal injection of Tα1 attenuated complete Freund's adjuvant (CFA)-induced pain hypersensitivity, and decreased the up-regulation of pro-inflammatory cytokines (TNF-α, IL-1β, and IL-6) in inflamed skin and the spinal cord. We found that CFA-induced peripheral inflammation evoked strong microglial activation, but the effect was reversed by Tα1. Notably, Tα1 reversed the CFA-induced up-regulation of vesicular glutamate transporter (VGLUT) and down-regulated the vesicular γ-aminobutyric acid transporter (VGAT) in the spinal cord. Taken together, these results suggest that Tα1 plays a therapeutic role in inflammatory pain and in the modulation of microglia-induced pro-inflammatory cytokine production in addition to mediation of VGLUT and VGAT expression in the spinal cord.

Objective To firstly report 4 cases of dermatomyositis characterized by painful palmar eruptions complicated by fatal rapidly progressive interstitial lung disease (RP-ILD) in China.Methods Four patients with dermatomyositis with painful palmar eruptions complicated by fatal RP-ILD were enrolled from the Department of Dermatology,Zhongshan Hospital,Fudan University between December 2014 and April 2017,and their clinical and pathological features were analyzed.Results Among these patients,3 were female and 1 was male.Their age ranged from 47 to 59 years.Of the 4 patients,3 had no muscular involvement.All of the 4 patients had multiple solid red papules or nodules on the bilateral palms,palmar and lateral surfaces of fingers,which preceded,followed or concurred with the onset of other skin lesions of dermatomyositis.The occurrence of type Ⅰ respiratory failure was preceded by 3 weeks to 5 months of painful palmar eruptions in the 4 patients.Early-stage palmar eruptions were easily misdiagnosed as contact dermatitis,eczema or erythema multiforme.Histopathological examination of the skin lesions on the finger palmar surface showed perivascular infiltration of a few lymphocytes in the dermis,and deposition of varying amounts of mucin-like substances around blood vessels and appendages.Of the 4 patients,3 showed positive staining for anti-melanoma differentiation-associated gene 5 antibody.Although the 4 patients received anti-inflammatory and immunosuppressive therapies,they all finally died of respiratory failure.Conclusions Dermatomyositis with painful palmar eruptions may indicate the occurrence of fatal RP-ILD,and early biopsy of skin lesions is needed to help to identify the disease.Immunosuppressive treatment should be performed timely to improve the prognosis in these patients.

Objective To analyze clinical and pathological features of dermatomyositis with panniculitis as a skin manifestation.Methods Clinical data were collected from 9 cases of dermatomyositis with panniculitis as a skin manifestation in Department of Dermatology of Zhongshan Hospital affiliated to Fudan University from October 2012 to July 2016,and their clinical and pathological features were analyzed.Results Of the 9 cases,6 were female and 3 were male,and the age ranged from 28 to 73 years.Panniculitis lesions of the 9 patients all manifested as painful indurated plaques or nodules on the buttock,thigh,waist,back,abdomen,upper extremities and cheeks.These lesions occurred before,after or simultaneously with the onset of characteristic skin and muscle lesions of dermatomyositis,especially preceded the onset of characteristic lesions of dermatomyositis by 30 years in 1 case.Histopathological examination of lesions showed liquefaction degeneration of basal cells,inflammatory infiltration of lymphocytes and plasma cells around blood vessels,in the fat lobules as well as between the lobules and septa in the dermis.The necrosis and calcification of lipocytes,lipomembranous changes,fibrinoid necrosis of damaged vessel walls and microvascular occlusion were observed in some cases.Because panniculitis preceded the onset of characteristic lesions of dermatomyositis,2 patients were misdiagnosed with lupus panniculitis and morphea profunda for several times.Most patients had good response to systemic glucocorticoids combined with immunosuppressive agents,while the patients with lipomembranous fat necrosis had poor response to the combination therapy.Conclusions Panniculitis lesions of dermatomyositis are histologically characteristic,and may do not coincide with the onset of characteristic lesions of dermatomyositis.If panniculitis lesions precede characteristic lesions of dermatomyositis,patients will be easily misdiagnosed.Thus,persistent follow-up visit will be of great importance for the diagnosis.

OBJECTIVETo conduct a clinical trial of ketogenic diet (KD) in patients with acute spinal cord injury (SCI) and evaluate its safety and feasibility by measuring blood ketone bodies and blood glucose levels.

METHODTen patients with acute SCI were recruited in the trial during the period from May, 2012 to October, 2013. The patients received a standard KD after fasting for 48 h. The levels of blood ketone, blood glucose and uric ketone were tested daily, and routine blood examination, electrolytes, liver and kidney function, body mass index (BMI), sensory and motor function, and adverse reactions were monitored weekly to assess the safety and feasibility of KD.

RESULTSKD treatment lasted for a mean of 12.9 days (4 to 29 days) in these patients. In all the patients, blood ketone level increased during the fasting and maintained a level above 2.0 mmol/L after taking KD, while the uric ketone level ranged from +++ to ++++. The blood glucose level was in the normal range during KD. Except for blood chloride level and BMI, routine blood test results, electrolytes, liver and kidney function showed no significant changes after KD. No significant changes were observed in the sensation of light touch and pinprick. The average motor ASIA score increased from 33.3 to 35.1 after KD. Gastrointestinal dysfunction (diarrhea, nausea, poor appetite, gastric pain, and abdominal distension) was recorded in 5 patients, hypoglycemia occurred in one patient early after KD, and one patient experienced urticaria during KD. All the adverse reactions were relieved after symptomatic treatments.

CONCLUSIONThis preliminary clinical trial demonstrated that KD could increase ketone bodies level and maintain a normal blood glucose level, suggesting its safety and feasibility in patients with acute SCI.

Adolescent ; Adult ; Aged ; Diet, Ketogenic ; adverse effects ; methods ; Feasibility Studies ; Female ; Humans ; Male ; Middle Aged ; Spinal Cord Injuries ; diet therapy ; Treatment Outcome ; Young Adult

Objective To conduct a clinical trial of ketogenic diet (KD) in patients with acute spinal cord injury (SCI) and evaluate its safety and feasibility by measuring blood ketone bodies and blood glucose levels. Method Ten patients with acute SCI were recruited in the trial during the period from May, 2012 to October, 2013. The patients received a standard KD after fasting for 48 h. The levels of blood ketone, blood glucose and uric ketone were tested daily, and routine blood examination, electrolytes, liver and kidney function, body mass index (BMI), sensory and motor function, and adverse reactions were monitored weekly to assess the safety and feasibility of KD. Results KD treatment lasted for a mean of 12.9 days (4 to 29 days) in these patients. In all the patients, blood ketone level increased during the fasting and maintained a level above 2.0 mmol/L after taking KD, while the uric ketone level ranged from+++to++++. The blood glucose level was in the normal range during KD. Except for blood chloride level and BMI, routine blood test results, electrolytes, liver and kidney function showed no significant changes after KD. No significant changes were observed in the sensation of light touch and pinprick. The average motor ASIA score increased from 33.3 to 35.1 after KD. Gastrointestinal dysfunction (diarrhea, nausea, poor appetite, gastric pain, and abdominal distension) was recorded in 5 patients, hypoglycemia occurred in one patient early after KD, and one patient experienced urticaria during KD. All the adverse reactions were relieved after symptomatic treatments. Conclusion This preliminary clinical trial demonstrated that KD could increase ketone bodies level and maintain a normal blood glucose level, suggesting its safety and feasibility in patients with acute SCI.

Objective To conduct a clinical trial of ketogenic diet (KD) in patients with acute spinal cord injury (SCI) and evaluate its safety and feasibility by measuring blood ketone bodies and blood glucose levels. Method Ten patients with acute SCI were recruited in the trial during the period from May, 2012 to October, 2013. The patients received a standard KD after fasting for 48 h. The levels of blood ketone, blood glucose and uric ketone were tested daily, and routine blood examination, electrolytes, liver and kidney function, body mass index (BMI), sensory and motor function, and adverse reactions were monitored weekly to assess the safety and feasibility of KD. Results KD treatment lasted for a mean of 12.9 days (4 to 29 days) in these patients. In all the patients, blood ketone level increased during the fasting and maintained a level above 2.0 mmol/L after taking KD, while the uric ketone level ranged from+++to++++. The blood glucose level was in the normal range during KD. Except for blood chloride level and BMI, routine blood test results, electrolytes, liver and kidney function showed no significant changes after KD. No significant changes were observed in the sensation of light touch and pinprick. The average motor ASIA score increased from 33.3 to 35.1 after KD. Gastrointestinal dysfunction (diarrhea, nausea, poor appetite, gastric pain, and abdominal distension) was recorded in 5 patients, hypoglycemia occurred in one patient early after KD, and one patient experienced urticaria during KD. All the adverse reactions were relieved after symptomatic treatments. Conclusion This preliminary clinical trial demonstrated that KD could increase ketone bodies level and maintain a normal blood glucose level, suggesting its safety and feasibility in patients with acute SCI.