[Distribution characteristics of plasma renin concentration in patients with aldosterone-producing adenoma].

Objective: To analyze the distribution characteristics of plasma renin concentration (PRC) in patients with aldosterone-producing adenoma (APA) and its impact on diagnosis. Methods: In this retrospective case series, clinical data from 200 patients with APA (80 men and 120 women; mean age 45.6 years) in the First Affiliated Hospital of Chongqing Medical University from November 2013 to January 2022 were evaluated. PRC was determined by automated chemiluminescence immunoassay. The distribution characteristics of PRC were analyzed, and 8.2 mU/L was used as the low renin cutoff to evaluate whether renin was suppressed. Results: The median PRC was 1.6 mU/L (range, 0.4-41.5 mU/L). There were 116 patients with APA with PRC of ≤2 mU/L, 41 patients with 28.2 mU/L) in 8.0% (16/200) of the patients with APA. And PRC was not suppressed in 2.5% (5/200) of the patients with APA, resulting in a primary aldosteronism negative screening outcome. Conclusions: Although most patients with APA have low PRC, there are a small number (8%) of patients whose PRC has not been fully suppressed, which can lead to missed diagnoses during primary aldosteronism screening. While primary aldosteronism is highly suspected, further investigations are required to determine the diagnosis, even if PRC is not fully suppressed at screening.

Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis.

BACKGROUND: Primary localized cutaneous amyloidosis (PLCA) is a chronic pruritic skin disorder. The genetic basis of familial (f)PLCA involves mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes, but the disease pathophysiology is not fully understood. AIM: To investigate the OSMR mutation spectrum in patients with sporadic (s)PLCA/fPLCA, lichen/macular PLCA in mainland China. METHODS: This study was carried out on 64 patients with sPLCA, along with 36 with fPLCA and 10 unaffected individuals collected from 23 unrelated Chinese families. Genomic DNA was extracted from peripheral blood samples. Mutation screening of 17 OSMR exons was performed by Sanger sequencing. RESULTS: PLCA lesions are typically localized to the shins, forearm and back. Sequence analysis of OSMR exons demonstrated that the OSMR missense mutation rate in patients with fPLCA (63.89%) was significantly higher than that in patients with sPLCA (34.38%). The male/female ratio of patients carrying a homozygous OSMR mutation (0.29) was significantly lower than that of patients carrying a heterozygous OSMR mutation (1.08; P < 0.05) and of patients with wildtype OSMR (1.75; P < 0.01). Age of onset of PLCA with OSMR homozygous mutation (median age 20 years) was earlier than that of PLCA with OSMR heterozygous mutation (median age 32 years; P < 0.01) or PLCA with wildtype genotype (median age 32 years; P < 0.01). CONCLUSION: The present data indicate OSMR mutations as not only the main cause of fPLCA, but also the potential source of the pathogenesis of sPLCA, although the exact molecular mechanism remains unknown.

[Clinical study of 131 children with multi-system Langerhans cell histiocytosis].

OBJECTIVE: To analyze the clinical characteristics and treatment outcome of children with multi-system Langerhans cell histiocytosis (MS-LCH). METHOD: From January 2007 to December 2013, newly diagnosed patients with histopathologically-confirmed MS-LCH were enrolled in this retrospective study. All patients were treated on the Shanghai Children's Medical Center LCH protocol (LCH-Ⅱ modified protocol). Survival was determined using the Kaplan-Meier method with differences between different groups compared using the Log-Rank test. Prognostic relevance of different parameters were analyzed by Cox proportional hazard model. RESULT: Of the 131 patients (86 boys and 45 girls), the median age was 3 years (range 3 months to 14 years). Rapid response at week 6 was achieved in 79% (104/131) evaluable patients and 74% patients (48/65) with risk organ involvement. The 3-year event free survival (EFS) and 3-year overall survival (OS) for all cases were (62±5)% and (82±4)%. The 3-year OS was significantly different between age at diagnosis ≤2 years and >2 years group.The 3-year OS was also significantly different between patients with and without risk organ involvement.The 3-year OS of patients who had rapid response at week 6 was significantly higher than that of those without rapid response (χ(2) =12.600, 11.583, 38.711; P=0.000, 0.001, 0.000). Cox regression analysis showed that risk organ involvement and poor response at week 6 were the most important prognostic factors for patients with MS-LCH (OR=12.352, 14.356; P=0.001, 0.000). However, age was not the independent prognostic risk factor (OR=1.013, P=0.207). There were 36 patients (28%, 36/131) who experienced disease progression or relapse. The time to disease progression or relapse ranged from 1 to 25 months from the initial diagnosis (median 11 months). Significantly lower OS (18±3)% was observed in 20 patients with risk organ involvement at progression or relapse. Patients with poor response at week 6, younger age or risk organ involvement at diagnosis was associated with disease progression/relapse (χ(2)=15.747, 7.289, Z=3.865; P=0.000, 0.007, 0.000). CONCLUSION: Risk organ involvement and poor response at week 6 are the strongest prognostic factors for patients with MS-LCH. Second initial treatment for patients with poor response at week 6 and effective salvage therapy need to be taken into account in our future studies.

[The effect of CPAP therapy on dizziness].

Objective:To implore the effect of continuous positive airway pressure (CPAP) therapy on dizziness patients and its mechanism. Method:Seventy-five dizziness patients were enrolled. All patients accepted polysomnographic test, dizziness handicap inventory, Pitsburgh sleep quality index and Epworth sleepiness scale before and after CPAP therapy. Patients were divided into two groups according to a polysomnographic test: OSAHS group (AHI≥15) and without OSAHS group (AHI<15); divided into three groups according to dizziness handicap inventory score: mild dizziness group (00.05), but CPAP therapy could ameliorate sleep disorder of the OSAHS group. ③Different levels of dizziness had no impact on improving DHI during CPAP therapy. However, the effect on sleep improvement decreased when patients had heavier dizziness. ④Treating by CPAP after three months could significantly improve patients dizziness (P<0.01). ⑤The dizziness of the patients in younger old group and old group have significant improvement after CPAP therapy (P<0.01). However, only younger old group has better sleep. Conclusion:CPAP therapy could dramatically improve dizziness in patients with sleep disorders.

The major immunogenic epitopes of Epstein-Barr virus (EBV) nuclear antigen 1 are encoded by sequence domains which vary among nasopharyngeal carcinoma biopsies and EBV-associated cell lines.

Epstein-Barr virus (EBV) nuclear antigen 1 (EBNA-1) is a protein expressed consistently in EBV-infected cells and EBV-associated malignant tissues. A panel of monoclonal antibodies (MAbs) was generated against the C terminus of EBNA-1 and evaluated for the detection of EBNA-1 in different cell lines. The epitopes recognized were mapped. Since sequence variations of EBNA-1 have been reported in nasopharyngeal carcinoma (NPC) tissues and in infected healthy individuals, the ability of these MAbs to recognize a recombinant protein derived from an NPC biopsy was also analysed. MAb 4H11 appeared to react with EBNA-1 sequences from different sources, whereas MAbs 5C11, 5F12 and 8F6 failed to recognize a recombinant EBNA-1 protein cloned from an NPC patient. Using different recombinant EBNA-1 fragments in an immunoblot format, this study demonstrates that the domain bounded by amino acids 408 and 498 is very immunogenic in mice in that epitopes in this region are recognized by various MAbs. Amino acid sequences of EBNA-1 were also deduced from nucleotide sequences amplified from three Burkitt's lymphoma cell lines, two spontaneous lymphoblastoid cell lines, two NPC biopsies and one NPC hybrid cell line, NPC-KT, and compared to the sequence from B95-8. The amino acid sequence of EBNA-1 in Akata is almost identical to that in an NPC biopsy, except for amino acid 585. The results of this study indicate that the immunogenic epitopes of EBNA-1 are highly variable.

Anomalous pulmonary venous pathway traversing pulmonary parenchyma. Diagnosis and implication.

STUDY OBJECTIVES: To describe four patients having total anomalous pulmonary venous connection with an intrapulmonary vertical vein, rendering difficulty in diagnosis and surgery. SETTING: a tertiary referral center. PATIENTS AND METHODS: By reviewing medical records, 4 of 25 patients with right atrial isomerism and total anomalous pulmonary venous connection were identified to have an intrapulmonary vertical vein. All four patients underwent echocardiography, catheterization, and angiography. One underwent MRI. Two underwent open-heart surgery and one received a modified Blalock-Taussig shunt. RESULTS: Right atrial isomerism was present in all four patients. On chest x-ray films, an abnormal shadow resembling scimitar syndrome was seen in two patients. Imaging the vertical vein was unsuccessful with an echocardiogram in all four patients. The intrapulmonary course of the vertical vein was depicted with a pulmonary venogram in two patients and with magnetic resonance in one patient. The intrapulmonary segment remained undetected until autopsy in one patient. All four patients died. At autopsy, the pulmonary venous confluence was hypoplastic in all four hearts. The vertical vein was buried in pulmonary parenchyma and drained to superior vena cava with significant obstruction. CONCLUSION: In the presence of right atrial isomerism and total anomalous pulmonary venous connection, there may be an intrapulmonary pulmonary venous connection that may be obstructed. Anastomosing the pulmonary venous confluence to the atrium may be difficult because of hypoplasia of the pulmonary venous confluence.

Mediastinal lymphangioma in an infant.

Lymphangioma confined exclusively to the mediastinum occurs rarely in patients under 2 years of age. A 17-month-old girl presented with recurrent respiratory symptoms and signs. Chest radiographs taken at 9 and 17 months of age showed a large mediastinal mass, which had increased in size during the interval. Sonography revealed the mass to be cystic and multiloculated. Magnetic resonance imaging demonstrated a heterogeneous mass lying in the anterior and superior mediastinum and enveloping the great vessels. The child underwent a left thoracotomy and the tumor was almost completely removed. The pathologic diagnosis was cavernous lymphangioma. The postoperative course was uneventful. Lymphangioma, though rare, should be considered in the differential list of mediastinal tumors and cysts in infants.

Obstructed total anomalous pulmonary venous connection.

With the advent of echocardiography, total anomalous pulmonary venous connection (TAPVC) can be readily diagnosed without much difficulty. However, noninvasive detection of the presence of pulmonary venous obstruction in TAPVC remains a difficult issue. During a 5.5-year period, 42 patients were found to have TAPVC by catheterization, surgery, and/or autopsy: 17 had supracardiac drainage, 13 paracardiac drainage, nine infracardiac drainage, and three mixed drainage. Obstruction to pulmonary venous drainage was found in 24 patients (57%). Patients with right isomerism tended to have a higher incidence of pulmonary venous obstruction than those with the usual atrial arrangement (80% vs. 44%, p < 0.05). Color Doppler combined with cross-sectional echocardiography provided accurate delineation of drainage sites in 93% cases (39 of 42). Among the 39 cases with correct echocardiographic delineation of the drainage site, obstruction was detected by echocardiography in 22 cases with a sensitivity of 100% (22 of 22) and a specificity of 85% (17 of 20). Therefore, complete echocardiography, including cross-sectional images and color Doppler proved to be a reliable tool in the detection of drainage sites and pulmonary venous obstruction in TAPVC.

Random Amplified Polymorphic DNA Analysis of Heterodera cruciferae and H. schachtii populations.

Heterodera schachtii and H. cruciferae are sympatric in California and frequently occur in the same field upon the same host. We have investigated the use of polymerase chain reaction (PCR) amplification of nematode DNA sequences to differentiate H. schachtii and H. cruciferae and to assess genetic variability within each species. Single, random oligodeoxyribonucleotide primers were used to generate PCR-amplified fragments, termed RAPD (random amplified polymorphic DNA) markers, from genomic DNA of each species. Each of 19 different random primers yielded from 2 to 12 fragments whose size ranged from 200 to 1,500 bp. Reproducible differences in fragment patterns allowed differentiation of the two species with each primer. Similarities and differences among six different geographic populations of H. schachtii were detected. The potential application of RAPD analysis to relationships among nematode populations was assessed through cluster analysis of these six different populations, with 78 scorable markers from 10 different random primers. DNA from single cysts was successfully amplified, and genetic variability was revealed within geographic populations. The use of RAPD markers to assess genetic variability is a simple, reproducible technique that does not require radioisotopes. This powerful new technique can be used as a diagnostic tool and should have broad application in nematology.

Tuberous sclerosis with cardiac rhabdomyoma manifested by fetal bradycardia: report of a case.

This is a case of neonatal tuberous sclerosis associated with cardiac rhabdomyoma and manifested by fetal cardiac arrhythmia-bradycardia. The prenatal echocardiography showed multiple cardiac tumors which occupied the left and right ventricles. The largest one measured 5.2 cm in diameter. It was found to be 4.5 x 4.1 x 3.5 cm in size at autopsy. A postnatal cranial echogram showed multiple subependymal nodules. The patient expired after 7 hours of life. The autopsy findings confirmed the diagnosis. The mother of the patient had adenoma seb'aceum on the face and an ungual fibroma on the left little finger. Cranial computerized tomography revealed a small calcified tubercle.

45,XO/46,XY in a newborn with the stigmata of Turner syndrome: report of one case.

A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias. He also had patent ductus arteriosus, the secundum type of atrial septal defect and mitral stenosis. Chromosomes of peripheral blood showed mosaicism of cells with 45,XO/46,XY. An exploratory laparotomy was performed at five months of age. The right side ovotestis-like gonad was removed. The left side gonad in the scrotum was normal. No pathological gonadoblastoma was found.