[Morvan syndrome with positive anti LGI1/CASPR2 antibodies in serum/cerebrospinal fluid:a case report and literature review].

To report a typical case of Morvan syndrome with positive anti-leucine rich glioma-inactivated 1(LGI1) and contactin-associated protein 2 (CASPR2) antibodies in serum and cerebrospinal fluid. A 39-years-old female initially presented weakness of extremeties. The main symptoms included paroxysmal limb pain, wheezing, itching, muscle twitching, epilepsy, hypomnesia, dysphoria, apathy, intractable insomnia, salivation and sweating. Tests of electrolytes found hypokalemia (2.7-3.1 mmol/L) and hyponatremia (130-136 mmol/L). Arterial blood gas analysis showed hypoxemia (oxygen saturation 50%-70%). Total thyroxine (TT4) was elevated to 207 nmol/L with positive thyroid peroxidase antibody (TPO-Ab) and thyroglobulin antibody (TG-Ab). LGI1and CASPR2 antibodies (CBA method) were positive in both serum and cerebrospinal fluid, and the remaining antibodies related to autoimmune encephalitis and paraneoplastic syndrome were negative. Head MRI was almost normal, while mild abnormalities were found in electroencephalogram. Electromyography showed slightly increased voltage of left quadriceps motor unit potential. After treated with corticosteroids, IVIG and mycophenolate mofetil, the patient completely improved. Cognitive function scores recovered from MoCA/MMSE (16/24) to MoCA/MMSE (26/29). Positivity of LGI1/CASPR2 antibodies both in serum/cerebrospinal fluid are rarely seen in patients with Morvan syndrome. Steroids and immunosuppressants are suggested for treatment as early as possible.

[Effects and mechanisms of Notch signaling pathway on immune imbalance in chronic obstructive pulmonary disease].

Objective: To explore the role of Notch signaling pathway on immune imbalance in chronic obstructive pulmonary disease (COPD). Methods: Thirty BALB/c mice were randomly assigned into the healthy control group, COPD group, and COPD Gamma secretase inhibitors (GSI) group. Cigarette smoke exposure was used to establish the COPD model. T cells were enriched by filtering through nylon wool columns. The proportion of spleen-derived T-lymphocyte subsets was detected by flow cytometry. Real-time quantitative polymerase chain reaction (RT-PCR) and Western blot (WB) were used to detect the expression of splenic T cells' Notch1 and its downstream Hes1 mRNA and protein respectively. Results: The percentage of Th1, Th17 and Treg cells in CD4＋T cells of COPD mice (13.20±0.95, 10.22±0.45, 0.41±0.09)% were significantly increased compared with the healthy control group (8.07±0.44, 5.98±0.26, 0.26±0.05)%(all P<0.01). The proportion of Th1 and Th17 cells in COPD GSI group mice (9.48 ± 0.66, 7.70 ±0.39)% were significantly reduced compared with COPD group (all P<0.01). Ratio of Th1/Th2 in COPD group (18.70±4.12) was significantly increased compared with the healthy control group (12.63±1.91) (P<0.01), the percentage of Th17 and Treg in CD4＋ T cell increased 71% and 58% respectively. GSI decreased the ratios of Th1/Th2 and Th17/Treg (all P<0.01). Notch1 receptor and its downstream Hes1 mRNA expression (5.15±0.77, 1.92±0.32) and protein expression (0.85±0.04, 0.16±0.02) of COPD mice were significantly increased compared with the healthy group respectively [(1.00 ± 0.00, 1.00 ± 0.00) and (0.17±0.01, 0.09±0.01)] (all P<0.01). GSI significantly inhibited the expression of mRNA and protein in Notch1 and its downstream Hes1 (all P<0.01). Notch1 and Hes1 mRNA and protein expressions were correlated positively with Th1 and Th17 cells and negatively correlated with Th2 and Treg cells in COPD group(all P<0.05). Conclusion: In COPD mice, there was T-lymphocyte subsets imbalance, such as the increased of Th1, Th17 proinflammatory cells, Notch1 and its downstream Hes1 mRNA and protein levels were increased, and was associated with T-lymphocyte subsets imbalance. GSI could partially inhibit Notch1, Hes1 expression and Th1 and Th17 cells, and thus Notch signaling pathway was involved in the immune disorder of COPD mice.

First-trimester prenatal diagnosis of severe alpha-thalassemia.

By means of chorion biopsy together with restriction endonuclease analysis of fetal DNA, first trimester diagnoses were successfully made in 33 fetuses at risk for Bart's hydrops fetalis. Seven pregnancies with Hb H or hydrops fetalis were therapeutically terminated before 4 1/2 months of gestation. Of the 26 pregnancies intended to continue, 18 have come to term with normal deliveries; one with threatened abortion was terminated at the end of the first trimester and, seven are progressing normally.