Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia / 医学前沿

Neurofibromatosis (NF) is a genetic disease in which the lungs are rarely involved. However, in NF cases with lung involvement, chest computed tomography may show bilateral basal reticulations, apical bullae, and cysts without bronchiectasis. Herein, we report a patient diagnosed with NF on the basis of the results of genetic testing who presented with early-onset wet cough and bronchiectasis. Considering the differential diagnosis of bronchiectasis combined with his early-onset wet cough, sinusitis, and sperm quality decline, we considered the possibility of primary ciliary dyskinesia (PCD). Further electron microscopy analysis of cilia and identification of homozygous mutations in the RSPH4A gene confirmed the diagnosis of PCD. Therefore, for patients with NF, when an image change exists in the lungs that does not correspond to NF, the possibility of other diagnoses, including PCD, must be considered.

Effect of febuxostat on renal function in patients from South China with CKD3 diabetic nephropathy / Efeito do febuxostat na função renal em pacientes do sul da China com nefropatia diabética com DRC3

ABSTRACT Objective: To investigate the efficacy and safety of febuxostat on renal function in CKD stage 3 diabetic nephropathy patients. Methods: Patients in our hospital with chronic kidney disease (CKD) stage 3 diabetic nephropathy (DN) complicated by high serum uric acid (360 µmol/L) were recruited. Patients were then divided into treatment group and control group according to the random number table method. All the patients received low purine diet, renin-angiotensin-aldosterone system (RAAS) inhibitors, and adequate routine hypoglycemic treatment. Febuxostat was employed only in the treatment group. The levels of blood uric acid (sUA), serum creatinine (Scr), cystatin C (cys-c), eGFR, 24-hour urine protein quantification, albuminuria, and creatinine ratio (ACR) were evaluated in all patients before and after treatment at 4, 8, 12, and 24 week. Results: No difference was found before treatment between the two groups. After treatment at 4, 8, 12, and 24 week, the levels of sUA, SCr, cys-c, and eGFR between the two groups were significant different (P<0.05). There was no difference in 24-hour urine protein quantification, albuminuria, and creatinine ratio between two groups before treatment, and significant differences were observed after treatment. Fifty percent of patients from the treatment group achieved the treatment goal with 20 mg febuxostat at 4 weeks. Tubular markers were also decreased with the treatment. Conclusions: Febuxostat can reduce uric acid and improve renal function effectively in patients with CKD stage 3 diabetic nephropathy, while being well tolerated. However, the conclusion is still uncertain due to the short term of the study.

RESUMO Objetivo: Investigar a eficácia e segurança do febuxostat na função renal em pacientes com DRC estágio 3, com nefropatia diabética. Métodos: Foram recrutados pacientes em nosso hospital com nefropatia diabética (DN) estágio 3 de doença renal crônica (DRC) complicada por ácido úrico sérico alto (360 µmol/L). Os pacientes foram então divididos em grupo de tratamento e grupo controle, de acordo com o método da tabela de números aleatórios. Todos os pacientes receberam dieta pobre em purinas, inibidores do sistema renina-angiotensina-aldosterona (RAAS) e tratamento hipoglicêmico de rotina. O Febuxostat foi empregado apenas no grupo de tratamento. Os níveis de ácido úrico no sangue (AIU), creatinina sérica (Scr), cistatina C (cys-c), TFGe, quantificação de proteínas na urina em 24 horas, razão albumina e creatinina (ACR) foram avaliados em todos os pacientes antes e após o tratamento às 4, 8, 12 e 24 semanas. Resultados: Nenhuma diferença foi encontrada antes do tratamento entre os dois grupos. Após o tratamento nas 4, 8, 12 e 24 semanas, os níveis de sUA, SCr, cys-c e TFGe entre os dois grupos foram significativamente diferentes (P <0,05). Não houve diferença na quantificação de proteínas na urina em 24 horas, albuminúria e razão de creatinina entre dois grupos antes do tratamento, e diferenças significativas foram observadas após o tratamento. Cinquenta por cento dos pacientes do grupo de tratamento atingiram a meta de tratamento com 20 mg de febuxostat em 4 semanas. Marcadores tubulares também foram reduzidos com o tratamento. Conclusões: O Febuxostat pode reduzir o ácido úrico e melhorar a função renal efetivamente em pacientes com nefropatia diabética estágio com DRC no estágio 3, sendo bem tolerado. No entanto, a conclusão ainda é incerta devido ao curto prazo do estudo.

Rosuvastatin control CIAKI risk on diabetic patients with mild to moderate CKD and diuretics at high risk / 中国生化药物杂志

Objective To assess the application of rosuvastatin control contrast induced acute kidney injury (CIAKI) risk on diabetes mellitus (DM) patients with mild to moderate chronic kidney disease (CKD) and diuretics at high risk.Methods One hundred T2DM patients with mild to moderate CKD scheduled for coronary or peripheral vascular interventional diagnosis selected from May 2013 to June 2015 in endocrinology department of Zhejiang Huzhou Central Hospital and perioperative routine use of diuretics were randomly divided into observation group (51 cases) and control group (49 cases).The observation group received rosuvastatin at draught of night, 10mg per time and needed to take at least 2 times and then performed medical surgery, after surgery, continued to receive rosuvastatin for 3 d, and the total number of days taking rosuvastatin were not less than 5 d;control group not received any statins pre-and post-operation.Results The angiographic site, angiography showed lesions, the proportion of patients with coronary interventional therapy, iodixanol dosage during and preoperative and postoperative levels of SCr and eGFR and other project data between two groups were compared with no significant difference.The CIAKI incidence in observation group was 1.96% (1/51), which was significantly lower than that in control group of 16.33% (8/49) (P<0.05).The clinical follow-up after interventional treatment 30d results showed that secondary end points between two groups groups related to the project data surgery was not statistically significant.There were 2 cases with transaminases elevating, 1 case with rash and 1 case with gastrointestinal reactions, the adverse reactions rate was 7.84% (4/51) and 1 case with gastrointestinal reactions, 1 case with myalgia in control group, the adverse reactions rate was 4.08% (2/49), there was no significant difference between two groups.Conclusion This preliminary study demonstrates that rosuvastatin has the good efficacy on the DM patients with mild to moderate CKD received diuretics at high risk with security, which has the certain significance to control CIAKI.

A Bama Minipig Model of Laryngopharyngeal Reflux and the Change of Laryngopharyngeal Mucosal Ultrastructure

BACKGROUND/AIMS: To establish an animal model of laryngopharyngeal reflux (LPR) and study the effect of LPR on the laryngopharyngeal mucosal ultrastructure. METHODS: Ten Bama minipigs were randomly divided into control group and stent group. Every pig underwent endoscope, and baseline pH was monitored for 4 hours at laryngopharynx and distal esophagus, then specimens from laryngopharyngeal mucosa were biopsied. For the control group, these procedures were repeated on the 14th day. In the stent group, a custom-designed esophageal stent suit was implanted into esophagus, laryngopharyngeal and distal esophageal pH monitoring lasted for 2 hours, then stent suit was removed 3 days later. At last, the same procedures were done as the control group on the 14th day. Specimens were observed under transmission electron microscope to measure the intercellular space and desmosome number. RESULTS: In the control group, there was no laryngopharyngeal reflux on the first day and 14th day. Before the stent was implanted, there was also no laryngopharyngeal reflux in the stent group. In both 2 hours and 14 days after stent implantation, the num -ber of reflux, reflux time, and percentage time of pH < 4.0 were significantly increased (P < 0.05) in the stent group. There was no difference in intercellular space and desmosomes in the control group between baseline and 14th day. In the stent group, intercellular space of laryngopharyngeal mucosa was significantly increased (0.37 mum vs 0.96 mum, P = 0.008), and the number of desmosomes was significantly decreased (20.25 vs 9.5, P = 0.003). CONCLUSIONS: A Bama minipig model of LPR was established by implanting a custom-designed stent suit. LPR might destroy the laryngophar yngeal mucosal barrier.

Morphology of bacterial flora in root canals associated with apical abscesses / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Apical abscess is an inflammatory process in the peri-radicular tissues caused by biofilms in the necrotic root canal systems. Therefore, a comprehensive analysis of the bacterial colonization is required for a better understanding of the pathogenesis. This study aimed to investigate the patterns of bacterial infection of root canals of teeth with apical abscesses and to determine whether histological and microbiological findings correlated with clinical conditions.</p><p><b>METHODS</b>Eighteen samples from 18 teeth with apical pathological lesions were analyzed. Nine patients with acute apical abscesses experienced severe pain, and nine patients were asymptomatic with a sinus tract. After extraction, each affected root was divided into two halves. One half was processed for histobacteriologic analysis and examined using light microscopy, and the other half was analyzed using scanning electron microscopy (SEM) to determine the patterns of microbial colonization of the root canals.</p><p><b>RESULTS</b>The appearance of each sample subjected to SEM was consistent with the histobacteriologic findings despite the presence or absence of clinical symptoms. Intraradicular biofilms comprising cocci, rods, and/or filaments of amorphous materials were observed in the apical third of the main root canals in all samples. The bacterial biofilms covering the main root canal walls also penetrated the dentinal tubules to varying depths. The morphologies of biofilms varied, and a unique pattern of intraradicular infection was not identified.</p><p><b>CONCLUSION</b>Intraradicular infections formed complex and variable multispecies biofilms and their presence did not correlate with clinical symptoms.</p>

Clinical treatment of 100 patients with subacute thyroiditis / 中华全科医师杂志

A total of 100 patients with subacute thyroiditis hospitalized from January 2011 to October 2012 were recruited.Each received glucocorticoid treatment for 8 weeks and there was a 2-month follow-up period after drug withdrawal.After treatment,the short-term recurrence rate was 34％ (34/100).If thyroid ultrasound was abnormal,the recurrence rate was 52％ (30/58).And it was significantly higher than 10％ recurrence rate for those with normal thyroid ultrasound (4/42,x2 =9.67,P ＜ 0.01).The recurrence rate of different erythrocyte sedimentation rate groups of 40-100 mm/1 h and ＞ 100 mm/1 h was 37％ (22/60) and 30％ (12/40) respectively (P ＞ 0.05).

Correlation between serum 25-hydroxyvitamin D level and gestational diabetes mellitus / 中华临床营养杂志

Objective To investigate the relationship between serum 25-hydroxyvitamin D level and gestational diabetes mellitus (GDM).Methods The fasting plasma glucose,fasting insulin,25-hydroxyvitamin D,and high sensitive C-reactive protein (hs-CRP) levels in the normal glucose tolerance group and gestational diabetes mellitus (GDM) group were measured.The homostasis model assessment insulin resistant (HOMA-IR) and homostasis model assessment β cell (HOMA-B) were calculated for assessing the insulin resistance and β-cell function.The relationship between 25-hydmxyvitamin D and hs-CRP,HOMA-IR,and HOMA-B were analyzed.Results The level of 25-hydroxyvitamin D in the GDM group [(2.16 ± 0.38) nmol/L] was significantly lower than that in the normal glucose tolerance group [(4.13 ±0.79) nmol/L](P =0.001).Serum 25-hydroxyvitamin D level was negatively correlated with hs-CRP (r =-0.448,P =0.002) and HOMA-IR (r =0.396,P =0.004),but was positively related with HOMA-B (r =0.495,P =0.001).Conclusions The serum 25-hydmxyvitamin D level remarkably decreases in GDM patients.Vitamin D deficiency may cause the functional damage of beta cell of islet,increase insulin resistance,and thus contribute to the development of GDM.

Blastic plasmacytoid dendritic cell neoplasm: a case report / 中华皮肤科杂志

A 19-year-old female presented with a dark erythematous maculopapule measuring 2 cm in diameter on the left lower limb for more than one year.Physical examination revealed an enlarged cherry-like lymph node in the right inguinal region.Histopathology of the lesion revealed that the normal structure of skin disappeared absolutely,and there was a diffuse infiltrate of medium-sized lymphoid tumor cells with unclear nucleoli.Immunohistochemically,the tumor cells strongly expressed CD4,CD56 and CD123,and partially expressed terminal deoxynucleotidyl transferase (TdT).Flow cytometric analysis of bone marrow aspirates showed that abnormal cells amounted to 59.9％,and were positive for CD123st (strong),human leucocyte antigen-DRst (strong),CD56,CD304 (blood dendritic cell antigen-4),CD7,CD11b,CD33,CD36 and chemokine (C-X-C motif) receptor 4,CD13 (dim),CD4 (partial) and CD117 (partial).Transmission electron microscopy of bone marrow cells revealed that there were massive uniformly sized lymphoid cells with thick processes on cell surfaces,a high nucleus/cytoplasm ratio,centrally located round nuclei occasionally with deep gyrus-like notches,clumped marginated heterochromatin and multiple nucleoli.Moreover,a small amount of cytoplasm was observed in the lymphoid cells with the presence of mitochondria and endoplasmic reticulum arranged in concentric circles,which were characteristic of plasma cells.The features of both dendritic cells and plasma cells were found in the tumor cells through transmission electron microscopy.Based on the above findings,a diagnosis of blastic plasmacytoid dendritic cell neoplasm (BPDCN) was made.