BACKGROUND Tourette syndrome(TS)is a neurodevelopmental disorder characterized by the presence of motor and vocal tics,typically beginning in childhood.Despite signifi-cant research efforts,the exact pathophysiology o...BACKGROUND Tourette syndrome(TS)is a neurodevelopmental disorder characterized by the presence of motor and vocal tics,typically beginning in childhood.Despite signifi-cant research efforts,the exact pathophysiology of TS remains incompletely understood.Recent studies suggest that inflammation may play a role in the severity and progression of TS,pointing to the potential influence of dietary and lifestyle factors on the condition.Currently,research on the specific connection between dietary inflammatory index(DII)and TS is still in its early stages,requir-ing additional clinical and epidemiological studies to validate the strength and specific mechanisms of this connection.METHODS A total of 207 children diagnosed with TS in the pediatric department of Qingdao Chengyang People’s Hospital from January 2022 to January 2023 were selected.They were divided into stable and unstable groups based on follow-up condi-tions.Before enrollment,general information of the children[age,gender,body mass index(BMI),guardian’s education level,DII score,medical history,family history,academic stress,electronic device usage,medication,and disease progression]was assessed,and serum inflammatory levels were measured during follow-up visits.DII scores and Yale Global Tic Severity Scale(YGTSS)scores were calculated.Furthermore,based on YGTSS scores,the children were classified into mild,moderate,and severe groups.The DII,interleukin-6(IL-6),C-reactive protein(CRP),and tumor necrosis factor-alpha(TNF-α)levels in each group were compared.RESULTS Follow-up surveys were completed by 207 children and their guardians.Among them,117 children were in the stable group,and 90 were in the recurrent group.We found no statistically significant differences in age,gender,comorbidities,BMI,and disease duration between the two groups(P>0.05).However,academic stress,electronic device usage,medication,guardian’s education level,and DII scores showed statistically significant differences between the groups(P<0.05).Multifactorial regression analysis revealed that guardian’s anxiety level,DII score,medication,academic stress,and family history were statistically significant factors(P<0.05)affecting the recurrence of TS in children.Therefore,anxiety level,DII score,medication status,electronic device usage,and academic stress were identified as factors influencing the recurrence of TS in children.Among them,DII score,academic stress,and family history had odds ratios(OR)greater than 1,indicating risk factors,whereas medication status and guardian’s education level had OR values less than 1,indicating protective factors.According to the YGTSS scores,children were categorized into mild,moderate,and severe groups.Comparative analysis of DII and inflammatory levels in children with different degrees of tic disorders revealed that the severe group had the highest DII and inflammatory levels,followed by the moderate group,and the mild group had the lowest levels.The trend of TS progression was consistent with the DII results.Receiver operating characteristic curves were plotted to predict disease progression in patients with TS via inflammatory markers.The areas under the curve for IL-6,CRP,and TNF-αwere 0.894(95%CI:0.817-0.969),0.793(95%CI:0.694-0.893),and 0.728(95%CI:0.614-0.843)respectively,with statistically significant differences(P<0.05).According to the Youden index,the optimal cutoff values were IL-6=3.775 ng/L(sensitivity 68.1%and specificity 68.4%),CRP=6.650 mg/L(sensitivity 60.6%and specificity 68.4%),and TNF-α=0.666(sensitivity 60.6%and specificity 71.1%).CONCLUSION We found a certain correlation between DII and the severity,recurrence,and inflammatory levels of TS in children.Reasonable reduction in the intake of pro-inflammatory foods may be beneficial in reducing the risk of disease progression in children with TS.展开更多
AIM: To assess the late outcome of teen-agers with a previous history of recurrent abdominal pain (RAP) or irritable bowel syndrome (IBS). METHODS: A group of 67 children with RAP referred to the department from...AIM: To assess the late outcome of teen-agers with a previous history of recurrent abdominal pain (RAP) or irritable bowel syndrome (IBS). METHODS: A group of 67 children with RAP referred to the department from January 1986 to December 1995 was followed up between 5 and 13 years after the initial diagnosis by means of a structured telephone interview. We hypothesized that those patients with persistent adult IBS-like symptoms would be significantly more likely to report a family history oflBS in comparison with adults with no persistent abdominal complaint. RESULTS: Out of the 52 trackable subjects, 15 were found to present IBS-like symptoms at follow-up (29%) whereas the majority (37 subjects) did not. Subjects with IBS-like symptoms were almost three times more likely to present at least one sibling with similar symptoms compared to subjects not complaining (40.0% vs 16.0%), respectively (P 〈 0.05 at Student t test). Subjects with IBS-like symptoms also reported a higher prevalence of extra-intestinal symptoms, such as back pain, fibromyalgia, headache, fatigue and sleep disturbances. CONCLUSION: The study confirms previous observations indicating that pediatric RAP can predict later development of IBS. The latter appears to be greatly influenced by intrafamilial aggregation of symptoms, possibly through the learning of a specific illness behavior.展开更多
Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5...Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5% to 17.0%. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process. Case: In this case report, the patient with Gorlin-Goltz syndrome underwent laparotomy for bilateral ovarian fibrothecoma at 15 years of age. At 20 years of age, a recurrent ovarian tumor was detected in the remaining ovary. During the follow-up, we detected an increase in its size. As tumor torsion requiring left salpingo-oophorectomy was possible, tumorectomy was considered. However, her anti-Müllerian hormone level was low. As she was at risk for premature ovarian failure after tumorectomy, we planned to cryopreserve her oocytes to preserve her fertility before tumorectomy. Outcome: When the patient underwent surgery, the diameter of her left ovarian tumor was found to have increased to 56 mm. Egg collection was performed twice, and two oocytes were cryopreserved. Subsequently, she underwent tumorectomy of the left ovarian tumor. No recurrence has been observed. Conclusion: If a recurrent ovarian tumor is detected in patients with Gorlin-Goltz syndrome and a low anti-Müllerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.展开更多
<strong>Introduction</strong><strong>:</strong> Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This hete...<strong>Introduction</strong><strong>:</strong> Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This heterogeneity leads to delayed diagnosis in the majority of cases. Frequently, development retardation is the first apparent anomaly that imposes genetic study, and hence diagnosis is done. In other situations, the revealing presentation is atypical. <strong>Aims:</strong> Report a case of T8M in a child followed up for recurrent respiratory infections and insists on the global assessment of patients. <strong>Case Description:</strong> The patient, aged six years old, has been followed up since his first year for recurrent infections. At birth, the medical assessment was normal apart from bilateral testis ectopia and hypospadias. By the age of nine months, he presented several respiratory infections associated with wheezing thereafter. Immunity investigations were normal and skin tests were positive for dog hair. By allergen eviction and asthma therapeutics, the infant improved. During his follow-up, development retardation has been noted in addition to facial dysmorphism and limb extremities aberrations. Imaging investigations showed the agenesis of both the corpus callosum and the right kidney. Karyotyping on peripheral leucocytes and fibroblast culture revealed T8M in 6% and 87% of examined cells respectively. <strong>Conclusion:</strong> In the present case, the patient’s complaint is related to allergy. However, a global assessment of the child led to a rare condition requiring more care and careful follow-up.展开更多
BACKGROUND Sinusoidal obstructive syndrome(SOS)is a disease that damages hepatic sinusoidal endothelial cells,resulting in progressive occlusion and fibrosis of the lobular central vein and the occurrence of intrahepa...BACKGROUND Sinusoidal obstructive syndrome(SOS)is a disease that damages hepatic sinusoidal endothelial cells,resulting in progressive occlusion and fibrosis of the lobular central vein and the occurrence of intrahepatic sinusoidal portal hypertension.However,SOS after liver transplantation(LT)is uncommon and potentially fatal.Here,we report a rare case of second-time recurrence of SOS after liver retransplantation(rLT).CASE SUMMARY A 22-year-old woman received a living donor LT due to SOS.Four years later,she developed abdominal distention and ascites with no apparent cause.She was diagnosed with recurrence of SOS and underwent rLT.But 2 mo post rLT,the patient suffered from aggravated jaundice and ascites again.She was diagnosed with second-time recurrence of SOS post-rLT according to computed tomography and liver pathology.After treatment with warfarin anticoagulation and immunosuppressant conversion,she gradually recovered with improvement of liver function and liver pathology.During the 17-mo follow-up period,she was in good condition with normal liver function and no ascites.CONCLUSION SOS can be a recurrent disease after LT,and autoimmune antibody and genetic sequencing should be screened before LT.For susceptible patients,anticoagulant drugs should be used for an extended period,and tacrolimus or other pathogenic agents should be avoided.Early diagnosis and treatment can improve the prognosis of patients and avoid graft failure or death.展开更多
BACKGROUND:Renal cell carcinoma(RCC)involves the inferior vena cava(IVC)in a minority of patients.Less commonly,it presents with Budd-Chiari syndrome.If untreated, the condition progresses towards liver failure and de...BACKGROUND:Renal cell carcinoma(RCC)involves the inferior vena cava(IVC)in a minority of patients.Less commonly,it presents with Budd-Chiari syndrome.If untreated, the condition progresses towards liver failure and death.METHOD:We report a case of Budd-Chiari syndrome due to infiltration of the IVC and right atrium by recurrence of RCC 7 years after successful treatment by primary resection.RESULTS:Surgery was performed with a combined abdominal and thoracic approach with cardio-pulmonary by-pass and cardioplegia.The tumor was removed and a cadaveric iliac vein graft used to re-establish venous continuity between the right atrium and hepatic veins.CONCLUSIONS:Although it is a complex and high-risk procedure,aggressive surgery performed by an experienced team with liver transplant and cardiothoracic skills may enable resection of apparently advanced caval tumors.The case is discussed in the light of the current literature.展开更多
Irritable bowel syndrome (IBS) is the commonest cause of recurrent abdominal pain (RAP) in children in both more developed and developing parts of the world. It is defined by the Rome III criteria for functional gastr...Irritable bowel syndrome (IBS) is the commonest cause of recurrent abdominal pain (RAP) in children in both more developed and developing parts of the world. It is defined by the Rome III criteria for functional gastrointestinal disorders. It is characterized by abdominal pain that is improved by defecation and whose onset is associated with a change in stool form and or frequency and is not explained by structural or biochemical abnormalities. It is estimated that 10%-15% of older children and adolescents suffer from IBS. IBS can be considered to be a brain-gut disorder possibly due to complex interaction between environmental and hereditary factors. The diagnosis of IBS is made based on the Rome III criteria together with ruling out organic causes of RAP in children such as inflammatory bowel disease and celiac disease. Once the diagnosis of IBS is made, it is important to explain to the parents (and children) that there is no serious underlying disease. This reassurance may be effective treatment in a large number of cases. Lifestyle modifications, stress management, dietary interventions and probiotics may be beneficial in some cases. Although there is limited evidence for efficacy of pharmacological therapies such as antispasmodics and antidiarrheals; these have a role in severe cases. Biopsychosocial therapies have shown encouraging results in initial trials but are beset by limited availability. Further research is necessary to understand the pathophysiology and provide specific focused therapies.展开更多
Thrombotic microangiopathy(TMA) is one of the most devastating sequalae of kidney transplantation. A number of published articles have covered either de novo or recurrent TMA in an isolated manner. We have, hereby, in...Thrombotic microangiopathy(TMA) is one of the most devastating sequalae of kidney transplantation. A number of published articles have covered either de novo or recurrent TMA in an isolated manner. We have, hereby, in this article endeavored to address both types of TMA in a comparative mode. We appreciate that de novo TMA is more common and its prognosis is poorer than recurrent TMA; the latter has a genetic background, with mutations that impact disease behavior and, consequently, allograft and patient survival. Post-transplant TMA can occur as a recurrence of the disease involving the native kidney or as de novo disease with no evidence of previous involvement before transplant. While atypical hemolytic uremic syndrome is a rare disease that results from complement dysregulation with alternative pathway overactivity, de novo TMA is a heterogenous set of various etiologies and constitutes the vast majority of post-transplant TMA cases. Management of both diseases varies from simple maneuvers, e.g., plasmapheresis, drug withdrawal or dose modification, to lifelong complement blockade, which is rather costly. Careful donor selection and proper recipient preparation, including complete genetic screening, would be a pragmatic approach. Novel therapies, e.g., purified products of the deficient genes, though promising in theory, are not yet of proven value.展开更多
Recurrent Rapunzel syndrome(RRS) is a rare clinical presentation with fewer than six cases reported in the Pub Med literature. A report of RRS and literature review is presented. A 25-year-old female was admitted to h...Recurrent Rapunzel syndrome(RRS) is a rare clinical presentation with fewer than six cases reported in the Pub Med literature. A report of RRS and literature review is presented. A 25-year-old female was admitted to hospital with a 4-wk history of epigastric pain and swelling. She had a known history of trichophagia with a previous admission for Rapunzel syndrome requiring a laparotomy nine years earlier, aged 16. Psychological treatment had been successfully achieved for nine years with outpatient hypnotherapy sessions only, but she defaulted on her last session due to stressors at home. The abdominal examination demonstrated an epigastric mass. Computer tomography scan revealed a large gastric bezoar and features of aspiration pneumonia. The patient underwent emergency open surgical laparotomy for removal as the bezoar could not be removed endoscopically. The bezoar was cast in a shape that mimicked the contours of the stomach and proximal small bowel, hence the diagnosis of RRS. The patient was seen by a psychiatrist and was commenced on Quetiapine before discharge. She continues to attend follow-up.展开更多
AIM: To investigate the clinical characteristics of idiopathic uveal effusion syndrome(IUES) and to identify effective surgical modalities for its treatment.METHODS: This retrospective analysis included clinical data ...AIM: To investigate the clinical characteristics of idiopathic uveal effusion syndrome(IUES) and to identify effective surgical modalities for its treatment.METHODS: This retrospective analysis included clinical data of 33 eyes from 26 patients with IUES at Beijing Tongren Hospital. Records of eye examinations, ocular ultrasound, ocular ultrasound biomicroscopy(UBM), and follow-up surgical treatment were reviewed and analyzed.RESULTS: Of 26 patients, 17(65.4%) were male and 9(34.6%) were female. The average age of disease onset was 46.8 y(range: 22-64 y). Seven patients(26.9%) showed retinal detachment in both eyes at presentation. B-ultrasound showed the presence of retinal detachment in one eye or both eyes. All patients had binocular ciliary leakage and detachment. Eyes with retinal detachment underwent four-quadrantic partial-thickness sclerectomy and sclerostomy. Subretinal fluid resolution was achieved within 6 mo. Recurrence was observed in three eyes and was resolved with re-operation.CONCLUSION: Ophthalmic ultrasound and UBM, among others, can be helpful in the diagnosis of IUES. Sclerectomy and sclerostomy are surgical modalities that can successfully treat the disease. Some patients may experience recurrence after surgery;reoperation remains safe and effective for them. Long-term follow-up is essential in such settings.展开更多
BACKGROUND Peutz-Jeghers syndrome(PJS) and mesenteric fibromatosis(MF) are rare diseases,and PJS accompanying MF has not been previously reported. Here, we report a case of a 36-year-old man with both PJS and MF, who ...BACKGROUND Peutz-Jeghers syndrome(PJS) and mesenteric fibromatosis(MF) are rare diseases,and PJS accompanying MF has not been previously reported. Here, we report a case of a 36-year-old man with both PJS and MF, who underwent total colectomy and MF surgical excision without regular follow-up. Two years later, he sought treatment for recurrent acute abdominal pain. Emergency computed tomography showed multiple soft tissue masses in the abdominal and pelvic cavity, and adhesions in the small bowel and peritoneum. Partial intestinal resection and excision of the recurrent MF were performed to relieve the symptoms.CASE SUMMARY A 36-year-old male patient underwent total colectomy for PJS with MF. No regular reexamination was performed after the operation. Two years later, due to intestinal obstruction caused by MF enveloping part of the small intestine and peritoneum, the patient came to our hospital for treatment. Extensive recurrence was observed in the abdomen and pelvic cavity. The MF had invaded the small intestine and could not be relieved intraoperatively. Finally, partial bowel resection, proximal stoma, and intravenous nutrition were performed to maintain life.CONCLUSION Regular detection is the primary way to prevent deterioration from PJS. Although MF is a benign tumor, it has characteristics of invasive growth and ready recurrence. Therefore, close follow-up of both the history of MF and gastrointestinal surgery are advisable. Early detection and early treatment are the main means of improving patient prognosis.展开更多
A 33 years old woman was referred to our hospital since her sixth pregnancy had been revealed. In fact, at 19 years of age she had diagnosed as having systemic lupus erythematosus without organ failure. In addition, s...A 33 years old woman was referred to our hospital since her sixth pregnancy had been revealed. In fact, at 19 years of age she had diagnosed as having systemic lupus erythematosus without organ failure. In addition, she had a past history of uncontrollable severe pregnancy-induced hypertension occurred during the second pregnancy, resulting in extremely premature delivery and following postpartum HELLP syndrome. It was so severe that we employed administration of dexamethasone and plasma exchange to ameliorate a life-threatening situation. In the course of her recovery it was revealed that she had been complicated with antiphospholipid antibodies, and at the same time we observed that phosphatidylserine-dependent anti-prothrombin antibody IgG levels were declining as her condition was getting better. There-after, she became pregnant three times, but all pregnancies ended in miscarriage despite administration of prednisolone and anticoagulant therapy. Therefore, we realized that her recurrent miscarriages could not be prevented with generally acceptable therapies, so we tried intravenous immunoglobulin shortly after fetal heart beats were detected. In fact, her sixth pregnancy was going well, but we had to terminate it at the 35th week of gestation due to the onset of HELLP syndrome-like condition. However, she could achieve an almost intact pregnancy outcome without neonatal complications or persistently worsening postpartum HELLP syndrome-like condition. Considering the etiologic relation overlapping between systemic lupus erythematosus, antiphospholipid syndrome and recurrent miscarriage, intravenous immunoglobulin can be one of the treatment options for severe secondary recurrent miscarriage, although the evidence of the treatment is always certain. In addition, a decline of phosphatidylserine-dependent anti-prothrombin antibody IgG levels we observed in this case may represent its therapeutic immunomodulatory effects.展开更多
Takotsubo syndrome (TTS) is a rare condition that af- fects mainly aging women. TTS was first reported in 1990r and is characterized by clinical symptoms, ECG changes and regional wall motion abnormalities without c...Takotsubo syndrome (TTS) is a rare condition that af- fects mainly aging women. TTS was first reported in 1990r and is characterized by clinical symptoms, ECG changes and regional wall motion abnormalities without changes in the coronary arteries. However, some reports admit the pos- sibility of coexistence of TTS and coronary artery disease. We present a patient who had not had any changes in coro- nary arteries until four years later when she had myocardial infarction associated with right coronary artery narrowing, despite the fact that the risk factors of coronary heart disease were closely monitored.展开更多
Objective:To explore the relationship between gastrointestinal heat retention syndrome and the incidence of pneumonia and recurrent respiratory tract infections(RRTIs)in children.Methods:A prospective cohort study was...Objective:To explore the relationship between gastrointestinal heat retention syndrome and the incidence of pneumonia and recurrent respiratory tract infections(RRTIs)in children.Methods:A prospective cohort study was conducted in the pediatric outpatient department of Beijing Dongfang Hospital.Children without respiratory tract infections(RTIs)were consecutively recruited according to the selection criteria.A semi-structured questionnaire was used to record traditional Chinese medicine(TCM)symptoms and demographic and physiological characteristics.Gastrointestinal heat retention syndrome was considered to be a predisposing factor and was diagnosed according to a scale with reliability and validity.The participants were followed up for 12 months.Participants and their parents or guardians were contacted via clinical interviews and telephone every 6 months.Episodes of pneumonia and RTIs were recorded in detail.Results:A total of 420 children were included.Of participants,370(88.10%)were followed up for 12 months.The mean number of RTI episodes per participant was 5.37(95%CI:5.14 to 5.60).In total,186 participants in the gastrointestinal heat retention syndrome group and 184 participants in the nongastrointestinal heat retention syndrome group completed the 12-month follow-up period.The baseline of both groups was comparable.The incidence of RRTIs in children with gastrointestinal heat retention syndrome was 1.27(95%CI:1.01 to 1.59)times that in children without gastrointestinal heat retention syndrome.Logistic regression analysis revealed that abnormally increased appetite with frequent hunger,foul breath,dry stools,and dark red or purple fingerprints were positively correlated with the incidence of pneumonia.Irascibility and feverish feelings in the palms and soles were positively correlated with the occurrence of RRTI.Conclusions:Gastrointestinal heat retention syndrome is a risk factor for RRTIs in children.Studies with larger sample sizes and longer follow-up time are warranted to confirm the degree of causal risk associated with RTIs.展开更多
Background: Polycythemia vera is a possible cause of recurrent ischemic stroke which can be prevented. Aim: Describe a junctional ischemic stroke without large arterial trunks stenosis associated with an acute coronar...Background: Polycythemia vera is a possible cause of recurrent ischemic stroke which can be prevented. Aim: Describe a junctional ischemic stroke without large arterial trunks stenosis associated with an acute coronary syndrome. Case Presentation: A 66-years-old man was admitted for abrupt recurrent right hemiparesis related to bilateral and junctional ischemic stroke lesions. He had a medical history of a vertebrobasilar ischemic stroke concurrent with an acute coronary syndrome with normal coronary arteries. Transthoracic echocardiogram showed small apical akinesia. Hemoglobin level was 18.9 g/dl with a hematocrit of 57.6%. The endogenous erythropoietin was 1.3 mIU/ml with JAK2 V617F mutation positivity (37%). After eight months of treatment (hydroxycarbamide + aspirin + allopurinol) hemoglobin was 12.5 g/dL. Conclusion: This case illustrates the most suggestive features of PV particularly the ischemic stroke junctional topography.展开更多
The causes of recurrent spontaneous abortion are complex traditional Chinese medicine holds that its etiology is losses of spleen and kidney qi, qi and xue deficiency, in addition to secretion, genetic, anatomical, in...The causes of recurrent spontaneous abortion are complex traditional Chinese medicine holds that its etiology is losses of spleen and kidney qi, qi and xue deficiency, in addition to secretion, genetic, anatomical, infection, systemic diseases, environmental factors and other related immune factors, the deficiency of blocking antibody is also one of the reasons for the lack of immune factors. In treating it, Chinese medicine treatment combines the patients personal constitution and treatment based on syndrome differentiation; Western medicine treatment mainly applies Aspirin, active immune lymphocyte treatment, low molecular heparin, gamma globulin protein passive immune treatment and psychological intervention therapy. In this paper, a review of the treatment methods for closed antibodies in the past 5 years is made.展开更多
文摘BACKGROUND Tourette syndrome(TS)is a neurodevelopmental disorder characterized by the presence of motor and vocal tics,typically beginning in childhood.Despite signifi-cant research efforts,the exact pathophysiology of TS remains incompletely understood.Recent studies suggest that inflammation may play a role in the severity and progression of TS,pointing to the potential influence of dietary and lifestyle factors on the condition.Currently,research on the specific connection between dietary inflammatory index(DII)and TS is still in its early stages,requir-ing additional clinical and epidemiological studies to validate the strength and specific mechanisms of this connection.METHODS A total of 207 children diagnosed with TS in the pediatric department of Qingdao Chengyang People’s Hospital from January 2022 to January 2023 were selected.They were divided into stable and unstable groups based on follow-up condi-tions.Before enrollment,general information of the children[age,gender,body mass index(BMI),guardian’s education level,DII score,medical history,family history,academic stress,electronic device usage,medication,and disease progression]was assessed,and serum inflammatory levels were measured during follow-up visits.DII scores and Yale Global Tic Severity Scale(YGTSS)scores were calculated.Furthermore,based on YGTSS scores,the children were classified into mild,moderate,and severe groups.The DII,interleukin-6(IL-6),C-reactive protein(CRP),and tumor necrosis factor-alpha(TNF-α)levels in each group were compared.RESULTS Follow-up surveys were completed by 207 children and their guardians.Among them,117 children were in the stable group,and 90 were in the recurrent group.We found no statistically significant differences in age,gender,comorbidities,BMI,and disease duration between the two groups(P>0.05).However,academic stress,electronic device usage,medication,guardian’s education level,and DII scores showed statistically significant differences between the groups(P<0.05).Multifactorial regression analysis revealed that guardian’s anxiety level,DII score,medication,academic stress,and family history were statistically significant factors(P<0.05)affecting the recurrence of TS in children.Therefore,anxiety level,DII score,medication status,electronic device usage,and academic stress were identified as factors influencing the recurrence of TS in children.Among them,DII score,academic stress,and family history had odds ratios(OR)greater than 1,indicating risk factors,whereas medication status and guardian’s education level had OR values less than 1,indicating protective factors.According to the YGTSS scores,children were categorized into mild,moderate,and severe groups.Comparative analysis of DII and inflammatory levels in children with different degrees of tic disorders revealed that the severe group had the highest DII and inflammatory levels,followed by the moderate group,and the mild group had the lowest levels.The trend of TS progression was consistent with the DII results.Receiver operating characteristic curves were plotted to predict disease progression in patients with TS via inflammatory markers.The areas under the curve for IL-6,CRP,and TNF-αwere 0.894(95%CI:0.817-0.969),0.793(95%CI:0.694-0.893),and 0.728(95%CI:0.614-0.843)respectively,with statistically significant differences(P<0.05).According to the Youden index,the optimal cutoff values were IL-6=3.775 ng/L(sensitivity 68.1%and specificity 68.4%),CRP=6.650 mg/L(sensitivity 60.6%and specificity 68.4%),and TNF-α=0.666(sensitivity 60.6%and specificity 71.1%).CONCLUSION We found a certain correlation between DII and the severity,recurrence,and inflammatory levels of TS in children.Reasonable reduction in the intake of pro-inflammatory foods may be beneficial in reducing the risk of disease progression in children with TS.
文摘AIM: To assess the late outcome of teen-agers with a previous history of recurrent abdominal pain (RAP) or irritable bowel syndrome (IBS). METHODS: A group of 67 children with RAP referred to the department from January 1986 to December 1995 was followed up between 5 and 13 years after the initial diagnosis by means of a structured telephone interview. We hypothesized that those patients with persistent adult IBS-like symptoms would be significantly more likely to report a family history oflBS in comparison with adults with no persistent abdominal complaint. RESULTS: Out of the 52 trackable subjects, 15 were found to present IBS-like symptoms at follow-up (29%) whereas the majority (37 subjects) did not. Subjects with IBS-like symptoms were almost three times more likely to present at least one sibling with similar symptoms compared to subjects not complaining (40.0% vs 16.0%), respectively (P 〈 0.05 at Student t test). Subjects with IBS-like symptoms also reported a higher prevalence of extra-intestinal symptoms, such as back pain, fibromyalgia, headache, fatigue and sleep disturbances. CONCLUSION: The study confirms previous observations indicating that pediatric RAP can predict later development of IBS. The latter appears to be greatly influenced by intrafamilial aggregation of symptoms, possibly through the learning of a specific illness behavior.
文摘Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5% to 17.0%. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process. Case: In this case report, the patient with Gorlin-Goltz syndrome underwent laparotomy for bilateral ovarian fibrothecoma at 15 years of age. At 20 years of age, a recurrent ovarian tumor was detected in the remaining ovary. During the follow-up, we detected an increase in its size. As tumor torsion requiring left salpingo-oophorectomy was possible, tumorectomy was considered. However, her anti-Müllerian hormone level was low. As she was at risk for premature ovarian failure after tumorectomy, we planned to cryopreserve her oocytes to preserve her fertility before tumorectomy. Outcome: When the patient underwent surgery, the diameter of her left ovarian tumor was found to have increased to 56 mm. Egg collection was performed twice, and two oocytes were cryopreserved. Subsequently, she underwent tumorectomy of the left ovarian tumor. No recurrence has been observed. Conclusion: If a recurrent ovarian tumor is detected in patients with Gorlin-Goltz syndrome and a low anti-Müllerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.
文摘<strong>Introduction</strong><strong>:</strong> Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This heterogeneity leads to delayed diagnosis in the majority of cases. Frequently, development retardation is the first apparent anomaly that imposes genetic study, and hence diagnosis is done. In other situations, the revealing presentation is atypical. <strong>Aims:</strong> Report a case of T8M in a child followed up for recurrent respiratory infections and insists on the global assessment of patients. <strong>Case Description:</strong> The patient, aged six years old, has been followed up since his first year for recurrent infections. At birth, the medical assessment was normal apart from bilateral testis ectopia and hypospadias. By the age of nine months, he presented several respiratory infections associated with wheezing thereafter. Immunity investigations were normal and skin tests were positive for dog hair. By allergen eviction and asthma therapeutics, the infant improved. During his follow-up, development retardation has been noted in addition to facial dysmorphism and limb extremities aberrations. Imaging investigations showed the agenesis of both the corpus callosum and the right kidney. Karyotyping on peripheral leucocytes and fibroblast culture revealed T8M in 6% and 87% of examined cells respectively. <strong>Conclusion:</strong> In the present case, the patient’s complaint is related to allergy. However, a global assessment of the child led to a rare condition requiring more care and careful follow-up.
基金Beijing Municipal Science&Technology Commission,No.Z181100001718220.
文摘BACKGROUND Sinusoidal obstructive syndrome(SOS)is a disease that damages hepatic sinusoidal endothelial cells,resulting in progressive occlusion and fibrosis of the lobular central vein and the occurrence of intrahepatic sinusoidal portal hypertension.However,SOS after liver transplantation(LT)is uncommon and potentially fatal.Here,we report a rare case of second-time recurrence of SOS after liver retransplantation(rLT).CASE SUMMARY A 22-year-old woman received a living donor LT due to SOS.Four years later,she developed abdominal distention and ascites with no apparent cause.She was diagnosed with recurrence of SOS and underwent rLT.But 2 mo post rLT,the patient suffered from aggravated jaundice and ascites again.She was diagnosed with second-time recurrence of SOS post-rLT according to computed tomography and liver pathology.After treatment with warfarin anticoagulation and immunosuppressant conversion,she gradually recovered with improvement of liver function and liver pathology.During the 17-mo follow-up period,she was in good condition with normal liver function and no ascites.CONCLUSION SOS can be a recurrent disease after LT,and autoimmune antibody and genetic sequencing should be screened before LT.For susceptible patients,anticoagulant drugs should be used for an extended period,and tacrolimus or other pathogenic agents should be avoided.Early diagnosis and treatment can improve the prognosis of patients and avoid graft failure or death.
文摘BACKGROUND:Renal cell carcinoma(RCC)involves the inferior vena cava(IVC)in a minority of patients.Less commonly,it presents with Budd-Chiari syndrome.If untreated, the condition progresses towards liver failure and death.METHOD:We report a case of Budd-Chiari syndrome due to infiltration of the IVC and right atrium by recurrence of RCC 7 years after successful treatment by primary resection.RESULTS:Surgery was performed with a combined abdominal and thoracic approach with cardio-pulmonary by-pass and cardioplegia.The tumor was removed and a cadaveric iliac vein graft used to re-establish venous continuity between the right atrium and hepatic veins.CONCLUSIONS:Although it is a complex and high-risk procedure,aggressive surgery performed by an experienced team with liver transplant and cardiothoracic skills may enable resection of apparently advanced caval tumors.The case is discussed in the light of the current literature.
文摘Irritable bowel syndrome (IBS) is the commonest cause of recurrent abdominal pain (RAP) in children in both more developed and developing parts of the world. It is defined by the Rome III criteria for functional gastrointestinal disorders. It is characterized by abdominal pain that is improved by defecation and whose onset is associated with a change in stool form and or frequency and is not explained by structural or biochemical abnormalities. It is estimated that 10%-15% of older children and adolescents suffer from IBS. IBS can be considered to be a brain-gut disorder possibly due to complex interaction between environmental and hereditary factors. The diagnosis of IBS is made based on the Rome III criteria together with ruling out organic causes of RAP in children such as inflammatory bowel disease and celiac disease. Once the diagnosis of IBS is made, it is important to explain to the parents (and children) that there is no serious underlying disease. This reassurance may be effective treatment in a large number of cases. Lifestyle modifications, stress management, dietary interventions and probiotics may be beneficial in some cases. Although there is limited evidence for efficacy of pharmacological therapies such as antispasmodics and antidiarrheals; these have a role in severe cases. Biopsychosocial therapies have shown encouraging results in initial trials but are beset by limited availability. Further research is necessary to understand the pathophysiology and provide specific focused therapies.
文摘Thrombotic microangiopathy(TMA) is one of the most devastating sequalae of kidney transplantation. A number of published articles have covered either de novo or recurrent TMA in an isolated manner. We have, hereby, in this article endeavored to address both types of TMA in a comparative mode. We appreciate that de novo TMA is more common and its prognosis is poorer than recurrent TMA; the latter has a genetic background, with mutations that impact disease behavior and, consequently, allograft and patient survival. Post-transplant TMA can occur as a recurrence of the disease involving the native kidney or as de novo disease with no evidence of previous involvement before transplant. While atypical hemolytic uremic syndrome is a rare disease that results from complement dysregulation with alternative pathway overactivity, de novo TMA is a heterogenous set of various etiologies and constitutes the vast majority of post-transplant TMA cases. Management of both diseases varies from simple maneuvers, e.g., plasmapheresis, drug withdrawal or dose modification, to lifelong complement blockade, which is rather costly. Careful donor selection and proper recipient preparation, including complete genetic screening, would be a pragmatic approach. Novel therapies, e.g., purified products of the deficient genes, though promising in theory, are not yet of proven value.
文摘Recurrent Rapunzel syndrome(RRS) is a rare clinical presentation with fewer than six cases reported in the Pub Med literature. A report of RRS and literature review is presented. A 25-year-old female was admitted to hospital with a 4-wk history of epigastric pain and swelling. She had a known history of trichophagia with a previous admission for Rapunzel syndrome requiring a laparotomy nine years earlier, aged 16. Psychological treatment had been successfully achieved for nine years with outpatient hypnotherapy sessions only, but she defaulted on her last session due to stressors at home. The abdominal examination demonstrated an epigastric mass. Computer tomography scan revealed a large gastric bezoar and features of aspiration pneumonia. The patient underwent emergency open surgical laparotomy for removal as the bezoar could not be removed endoscopically. The bezoar was cast in a shape that mimicked the contours of the stomach and proximal small bowel, hence the diagnosis of RRS. The patient was seen by a psychiatrist and was commenced on Quetiapine before discharge. She continues to attend follow-up.
文摘AIM: To investigate the clinical characteristics of idiopathic uveal effusion syndrome(IUES) and to identify effective surgical modalities for its treatment.METHODS: This retrospective analysis included clinical data of 33 eyes from 26 patients with IUES at Beijing Tongren Hospital. Records of eye examinations, ocular ultrasound, ocular ultrasound biomicroscopy(UBM), and follow-up surgical treatment were reviewed and analyzed.RESULTS: Of 26 patients, 17(65.4%) were male and 9(34.6%) were female. The average age of disease onset was 46.8 y(range: 22-64 y). Seven patients(26.9%) showed retinal detachment in both eyes at presentation. B-ultrasound showed the presence of retinal detachment in one eye or both eyes. All patients had binocular ciliary leakage and detachment. Eyes with retinal detachment underwent four-quadrantic partial-thickness sclerectomy and sclerostomy. Subretinal fluid resolution was achieved within 6 mo. Recurrence was observed in three eyes and was resolved with re-operation.CONCLUSION: Ophthalmic ultrasound and UBM, among others, can be helpful in the diagnosis of IUES. Sclerectomy and sclerostomy are surgical modalities that can successfully treat the disease. Some patients may experience recurrence after surgery;reoperation remains safe and effective for them. Long-term follow-up is essential in such settings.
文摘BACKGROUND Peutz-Jeghers syndrome(PJS) and mesenteric fibromatosis(MF) are rare diseases,and PJS accompanying MF has not been previously reported. Here, we report a case of a 36-year-old man with both PJS and MF, who underwent total colectomy and MF surgical excision without regular follow-up. Two years later, he sought treatment for recurrent acute abdominal pain. Emergency computed tomography showed multiple soft tissue masses in the abdominal and pelvic cavity, and adhesions in the small bowel and peritoneum. Partial intestinal resection and excision of the recurrent MF were performed to relieve the symptoms.CASE SUMMARY A 36-year-old male patient underwent total colectomy for PJS with MF. No regular reexamination was performed after the operation. Two years later, due to intestinal obstruction caused by MF enveloping part of the small intestine and peritoneum, the patient came to our hospital for treatment. Extensive recurrence was observed in the abdomen and pelvic cavity. The MF had invaded the small intestine and could not be relieved intraoperatively. Finally, partial bowel resection, proximal stoma, and intravenous nutrition were performed to maintain life.CONCLUSION Regular detection is the primary way to prevent deterioration from PJS. Although MF is a benign tumor, it has characteristics of invasive growth and ready recurrence. Therefore, close follow-up of both the history of MF and gastrointestinal surgery are advisable. Early detection and early treatment are the main means of improving patient prognosis.
文摘A 33 years old woman was referred to our hospital since her sixth pregnancy had been revealed. In fact, at 19 years of age she had diagnosed as having systemic lupus erythematosus without organ failure. In addition, she had a past history of uncontrollable severe pregnancy-induced hypertension occurred during the second pregnancy, resulting in extremely premature delivery and following postpartum HELLP syndrome. It was so severe that we employed administration of dexamethasone and plasma exchange to ameliorate a life-threatening situation. In the course of her recovery it was revealed that she had been complicated with antiphospholipid antibodies, and at the same time we observed that phosphatidylserine-dependent anti-prothrombin antibody IgG levels were declining as her condition was getting better. There-after, she became pregnant three times, but all pregnancies ended in miscarriage despite administration of prednisolone and anticoagulant therapy. Therefore, we realized that her recurrent miscarriages could not be prevented with generally acceptable therapies, so we tried intravenous immunoglobulin shortly after fetal heart beats were detected. In fact, her sixth pregnancy was going well, but we had to terminate it at the 35th week of gestation due to the onset of HELLP syndrome-like condition. However, she could achieve an almost intact pregnancy outcome without neonatal complications or persistently worsening postpartum HELLP syndrome-like condition. Considering the etiologic relation overlapping between systemic lupus erythematosus, antiphospholipid syndrome and recurrent miscarriage, intravenous immunoglobulin can be one of the treatment options for severe secondary recurrent miscarriage, although the evidence of the treatment is always certain. In addition, a decline of phosphatidylserine-dependent anti-prothrombin antibody IgG levels we observed in this case may represent its therapeutic immunomodulatory effects.
文摘Takotsubo syndrome (TTS) is a rare condition that af- fects mainly aging women. TTS was first reported in 1990r and is characterized by clinical symptoms, ECG changes and regional wall motion abnormalities without changes in the coronary arteries. However, some reports admit the pos- sibility of coexistence of TTS and coronary artery disease. We present a patient who had not had any changes in coro- nary arteries until four years later when she had myocardial infarction associated with right coronary artery narrowing, despite the fact that the risk factors of coronary heart disease were closely monitored.
基金funded by the National Natural Science Foundation of China(81373769)Beijing Educational Committee cooperation projects(1000062520115)+1 种基金National Key R&D Program of China(2018YFC1704101)granted to Prof.Xiaohong Gufunded by China Postdoctoral Science Foundation(2020T130009ZX)。
文摘Objective:To explore the relationship between gastrointestinal heat retention syndrome and the incidence of pneumonia and recurrent respiratory tract infections(RRTIs)in children.Methods:A prospective cohort study was conducted in the pediatric outpatient department of Beijing Dongfang Hospital.Children without respiratory tract infections(RTIs)were consecutively recruited according to the selection criteria.A semi-structured questionnaire was used to record traditional Chinese medicine(TCM)symptoms and demographic and physiological characteristics.Gastrointestinal heat retention syndrome was considered to be a predisposing factor and was diagnosed according to a scale with reliability and validity.The participants were followed up for 12 months.Participants and their parents or guardians were contacted via clinical interviews and telephone every 6 months.Episodes of pneumonia and RTIs were recorded in detail.Results:A total of 420 children were included.Of participants,370(88.10%)were followed up for 12 months.The mean number of RTI episodes per participant was 5.37(95%CI:5.14 to 5.60).In total,186 participants in the gastrointestinal heat retention syndrome group and 184 participants in the nongastrointestinal heat retention syndrome group completed the 12-month follow-up period.The baseline of both groups was comparable.The incidence of RRTIs in children with gastrointestinal heat retention syndrome was 1.27(95%CI:1.01 to 1.59)times that in children without gastrointestinal heat retention syndrome.Logistic regression analysis revealed that abnormally increased appetite with frequent hunger,foul breath,dry stools,and dark red or purple fingerprints were positively correlated with the incidence of pneumonia.Irascibility and feverish feelings in the palms and soles were positively correlated with the occurrence of RRTI.Conclusions:Gastrointestinal heat retention syndrome is a risk factor for RRTIs in children.Studies with larger sample sizes and longer follow-up time are warranted to confirm the degree of causal risk associated with RTIs.
文摘Background: Polycythemia vera is a possible cause of recurrent ischemic stroke which can be prevented. Aim: Describe a junctional ischemic stroke without large arterial trunks stenosis associated with an acute coronary syndrome. Case Presentation: A 66-years-old man was admitted for abrupt recurrent right hemiparesis related to bilateral and junctional ischemic stroke lesions. He had a medical history of a vertebrobasilar ischemic stroke concurrent with an acute coronary syndrome with normal coronary arteries. Transthoracic echocardiogram showed small apical akinesia. Hemoglobin level was 18.9 g/dl with a hematocrit of 57.6%. The endogenous erythropoietin was 1.3 mIU/ml with JAK2 V617F mutation positivity (37%). After eight months of treatment (hydroxycarbamide + aspirin + allopurinol) hemoglobin was 12.5 g/dL. Conclusion: This case illustrates the most suggestive features of PV particularly the ischemic stroke junctional topography.
文摘The causes of recurrent spontaneous abortion are complex traditional Chinese medicine holds that its etiology is losses of spleen and kidney qi, qi and xue deficiency, in addition to secretion, genetic, anatomical, infection, systemic diseases, environmental factors and other related immune factors, the deficiency of blocking antibody is also one of the reasons for the lack of immune factors. In treating it, Chinese medicine treatment combines the patients personal constitution and treatment based on syndrome differentiation; Western medicine treatment mainly applies Aspirin, active immune lymphocyte treatment, low molecular heparin, gamma globulin protein passive immune treatment and psychological intervention therapy. In this paper, a review of the treatment methods for closed antibodies in the past 5 years is made.