[Paediatric nodal marginal zone lymphoma: a clinicopathological study of seven cases].

Objective: To investigate the pathological features and clinical manifestation of pediatric nodal marginal zone lymphoma(NMZL). Methods: Histological morphology and immunophenotype of 7 cases of pediatric NMZL were retrospectively reviewed at Beijing Friendship Hospital Affiliated to Medical University between January 2008 to October 2018. Clonal rearrangement analysis was performed. Clinical information including patient follow-up data were analyzed. Results: All 7 patients were male with a median age of 15 years aged from 10 to 26 years. All patients presented with only lymph node enlargement without B symptoms, including cervical lymph node (5 cases), preauricular lymph node (1 case) and retroauricular lymph node (1 case). Histologically, all cases showed irregular large follicles on the edges with widened marginal areas and intervesicular areas, and lesional cells were uniform with progressive transformation of germinal center centers along with a small amount of intrinsic lymphoid tissue. All 7 cases showed diffuse CD20 positivity both follicle and interfollicular region along with 30%-40% positivity in the interfollicular region (pathological region). Markers of other B-cell lymphomas werenot expressed. All 7 cases were positive for immunoglobulin(Ig) gene rearrangement. None of the patients showed no recurrence up on after follow-up for an average of 13 months. Conclusions: Pediatric NMZL is a rare type of lymphoma that has a unique morphology and occurs almost exclusively in male children and young adults and often in head and neck lymph nodes. It has an excellent prognosis. Therefore, awareness of the disease with accurate diagnosis is important.

[Clinical characteristics and treatment of congenital fibrovascular pupillary membranes].

Objective: To investigate the clinical characteristics, surgical approaches and postoperative effects associated with congenital fibrovascular pupillary membranes. Methods: A retrospective study design was used. Thirteen children (13 eyes) with congenital fibrovascular pupillary membranes, treated in Beijing Children's Hospital from January 2014 to December 2017 were included. The morphology of the membrane and the anterior chamber was evaluated using a digital wide-area fundus imaging system. The ophthalmic signs, examination results, operation methods, intraocular pressure and ocular position were analyzed. Results: There were 13 children (13 eyes) were enrolled, including 9 males and 4 females. The age at surgery ranged from 2.0 months to 34.5 months, with an median of 5.1 months. According to the degree of obstruction of the pupil and the intraocular pressure, the eyes were divided into three groups. In the 5 eyes of group A, the pupil membrane did not completely cover the pupil, and the depth of the anterior chamber was normal. Among them, 4 eyes had normal intraocular pressure (9-12 mmHg) (1 mmHg=0.133kPa), and 1 eye had elevated intraocular pressure (18 mmHg). In the 5 eyes of group B, the pupillary membrane completely covered the pupil into a pinhole, the anterior chamber was normal or slightly shallow, and the intraocular pressure was normal (6-16 mmHg). In the 3 eyes of group C, the pupillary membrane completely covered the pupil, the anterior chamber was shallow or disappeared, and the intraocular pressure was high (24-45 mmHg). Membranectomy and pupilloplasty were performed in group A, and trabeculectomy was combined when there was glaucoma; postoperative intraocular pressure was normal (4-10 mmHg). Membranectomy, pupilloplasty and iridectomy were performed in group B; postoperative intraocular pressure was normal (7-13 mmHg). Membranectomy, pupilloplasty, iridectomy and goniosychialysis were performed in group C; after surgery, intraocular pressure was normal in 2 eyes (10 mmHg and 13 mmHg) and 25 mmHg in 1 eye. All eyes were orthophoric before and after operation in group A. In group B, 1 eye was esotropic, 2 eyes were exotropic (worse after surgery in 1 eye), and 2 eyes were orthophoric before surgery. In group C, one eye was esotropic, one eye was exotropic, and one eye was orthophoric before surgery, and all eyes were exotropic after operation. Conclusions: Congenital fibrovascular pupillary membranes are unilaterally a continuation of the iris covering the pupil at different degrees, with or without glaucoma. Surgical treatment should be performed promptly when there is obscuring of the visual axis or incorporating of glaucoma. The main surgical procedures are membranectomy and pupilloplasty and iridectomy. Postoperative intraocular pressure can be well controlled, and strabismus has no improvement. (Chin J Ophthalmol, 2018, 54:849-854).

[Ultrastructural alteration of extraocular muscle proprioceptor in congenital idiopathic nystagmus].

Objective: To explore the ultrastructural alteration of extraocular muscle proprioceptor in congenital idiopathic nystagmus (CIN). Methods: Case-control study. Ten extraocular muscle samples were collected from five CIN children who underwent nystagmus surgeries in Beijing Children's Hospital from March 2015 to March 2016. Another ten extraocular muscle specimens were collected from five strabismus children in surgery at the same period as normal contrast. There were 3 male patients and 2 female patients of CIN with age of 61-147 months (median age: 91 months). The ultrastructure of extraocular muscle proprioceptors was compared between these two groups by transmission electron microscope. Results: Twenty-three proprioceptors were found in extraocular muscle specimens of CIN children, whereas thirty-three proprioceptors were detected in strabismus children. The ultrastructure of extraocular muscle proprioceptor of CIN altered greatly comparing with that of the control. Fourteen extraocular muscle proprioceptors of CIN were discovered much smaller and vacuolated not only at inner capsules but also at the space between inner and outer capsules with lipofuscins and myeloid bodies in the intrafusal muscle fibers. Sensory nerve fibers degenerated greatly with a lot of lipofuscins and myeloid bodies in these sensory nerve fibers. Demyelination also appeared in some severe cases. Nine extraocular muscle proprioceptors of CIN showed significant dissolving degeneration of myofibrils and proliferation of collagen fibrils. The normal structures could not be distinguished in these proprioceptors. And these structural disorders also appeared in extrafusal muscle fibers and nerve endings. Conclusion: The ultrastructure of extraocular muscle proprioceptor in CIN turned much smaller and had significantly structural disorder.(Chin J Ophthalmol, 2017, 53: 136-139).

[Clinical utility of real-time fluorescent PCR for combined detection of anaplastic lymphoma kinase and c-ros oncogene 1 receptor tyrosine kinase in non-small cell lung cancer].

Objective: To investigate the clinical application value of combined detection of ALK fusion gene and c-ros oncogene 1 receptor tyrosine kinase (ROS1) fusion gene in non-small cell lung cancer (NSCLC) using real-time fluorescent PCR. Methods: A kit for combined detection of ALK fusion gene and ROS1 fusion gene based on fluorescent PCR was used to simultaneously detect the two fusion genes in 302 cases of NSCLC specimens. The results were validated through Sanger sequencing. The consistency of the two detection methods was analyzed. Results: All 302 cases of NSCLC specimens were successfully analyzed through fluorescent PCR (302/302). 12 cases (4.0%) were found to contain ALK fusion gene, including 3 cases with ALK-M1, 3 with ALK-M2, 3 with ALK-M3, 1 with ALK-M4, and 2 with ALK-M6 fusion gene.12 cases (4.0%) were found to contain ROS1 fusion gene, including 1 case with ROS1-M7, 8 cases with ROS1-M8, 1 case with ROS1-M12, 1 case with ROS1-M14, and 1 case with double-positive ROS1-M3 and ROS1-M8 fusion genes. The total detection rate of ALK fusion gene and ROS1 fusion gene was 7.9% (24/302) and 278 cases showed to be negative for ALK fusion gene and ROS1 fusion gene. The successful detection rates for Sanger DNA sequencing were also 100%. The positive, negative and total coincidence rates obtained by real-time fluorescent PCR and by Sanger DNA sequencing were all 100%. Conclusions: The results of Sanger DNA sequencing demonstrate that the real-time fluorescent PCR assay is equally effective in detecting ALK and ROS1 fusion genes in NSCLC tissues. Furthermore, real-time fluorescent PCR assay can be used to detect trace ALK and ROS1 fusion gene simultaneously in tiny samples, and can save time and avoid repeated sampling. It is worthy of recommendation as a rapid and reliable detection technique.

Effects of HI-6 on muscle acetylcholine receptor: analysis on minimal reaction model.

AIM: To study the action of 1-(2-hydroxyiminomethyl-1-pyridino)-3-(4-carbamoyl-1-pyridino)-2-oxapropane dichloride (HI-6) on skeletal muscle acetylcholine receptor (N2-ChR). METHODS: N2-ChR was expressed in Xenopus laevis oocyte after injection with mRNA extracted from denervated rat leg muscles. The inward membrane currents induced by various concentrations of carbamylcholine and effects of HI-6 or d-tubocurarine on the currents were measured with voltage clamp technique by fast cell flow of agents. The actions of HI-6 and d-tubocurarine on N2-ChR were analyzed by using the minimal reaction model. RESULTS: K of 40.05, 156.00, and 334.67 mumol.L-1 for HI-6, K of 0.02, 0.10, and 0.18 mumol.L-1 for d-tubocurarine were obtained by using the competing for single acetylcholine (ACh)-binding site model, the competing for two ACh-binding sites model, and the noncompetitive inhibition model, respectively. CONCLUSION: HI-6 and d-tubocurarine competed for two ACh-binding sites of N2-ChR with equal affinity to antagonize the effects of the agonist on N2-ChR. The N2-ChR inhibition by HI-6 is much weaker than that by d-tubocurarine.