Triploidy syndrome: A report on two live-born (69, XXY) and one still-born (69, XXX) infants

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.     

Changing characteristics of typhoid fever in Taiwan.

Typhoid fever, a systemic disease caused by Salmonella typhi, is classically characterized by fever and abdominal symptoms. Although now considered uncommon, it seems to have re-emerged in Taiwan in recent years. We conducted a retrospective study of the clinical characteristics and microbiologic findings in 24 confirmed cases of typhoid fever treated over a 7-year period at a medical center in northern Taiwan. There were 11 males and 13 females, including 15 adults (over 18 years in age) and 9 children. Their mean age was 24.7 years (range, 9 months to 58 years). Twelve patients had recently returned from abroad, mostly from Southeast Asia. The most common complaints were fever (24/24), diarrhea (18/24), abdominal pain (10/24), and cough (10/24). The average duration of fever before diagnosis was 14.1 days, with a maximum of 30 days. Relative bradycardia was noted in 6 patients. Leukopenia was noted in 2 patients. S. typhi was isolated from blood culture in 20 cases, from stool culture in 3 cases, and from bone marrow culture in 1 case. Widal test was only positive initially in 7/18 cases. Fever of unknown origin was the most common initial diagnosis. Typhoid or enteric fever was impressed initially in only 2 cases. Almost all isolates of S. typhi were susceptible to antibiotics currently used for typhoid fever, with only 1 isolate resistant to chloramphenicol. All patients survived after antibiotic treatment. Only 1 patient developed recurrence after a 10-day course of ceftriaxone. In conclusion, the diagnosis of typhoid fever is often challenging due to non-specific symptoms and lack of an immediate confirmatory test. It is important to include this disease in the differential diagnosis of febrile patients with abdominal symptoms.     

Significance of cytogenetic and fluorescence in situ hybridization analysis in evaluating antichronic myeloid leukemia efficacy of different immune effector cells

We report on the antileukemia effect of interleukin 2 (IL2) on different immune cells from 22 patients with chronic myeloid leukemia (CML). Bone marrow cells from these patients were first cultured in modified long-term bone marrow culture medium for several days, then separately cultured with lymphokine activated killer cells (LAK), cytokine-induced killer cells (CIK), and dendritic cell cocultured CIK (DC-CIK) for another 1-2 days. They were then detected for presence of the Philadelphia chromosome (Ph) by cytogenetic analysis and fluorescence in situ hybridization (FISH). The percentage of Ph-chromosome-positive cells in the bone marrow mononuclear cells after culturing with CIK and DC-CIK was significantly lower than that after culturing with IL2 or LAK. Our results demonstrate that cytogenetics and FISH are useful techniques for the evaluation of the anti-CML effect of immune cells and that CIK or DC-CIK can be appropriate candidates for adoptive immune cell therapy in vivo or for leukemia cell purging ex vivo.     

诱发电位连续检测及其在低温心脏直视手术脑干监护中的应用

本文介绍了一种带自适应补偿的维纳滤波算法,和以该算法为基础形成的诱发电位连续监测软件,它作为NDI200型神经诊断仪的一种功能,可连续地记录和分析诱发电位信号,记录一次诱发电位所需的刺激数仅为平时的1/10。该软件配合NDI200神经诊断仪,在低温心脏直视手术脑干听觉诱发电位监护中首先得到了应用。     

A tctex1-Ca2+ channel complex for selective surface expression of Ca2+ channels in neurons

Voltage-gated Ca(2+) channels (VGCCs) are important in regulating a variety of cellular functions in neurons. It remains poorly understood how VGCCs with different functions are sorted within neurons. Here we show that the t-complex testis-expressed 1 (tctex1) protein, a light-chain subunit of the dynein motor complex, interacts directly and selectively with N- and P/Q-type Ca(2+) channels, but not L-type Ca(2+) channels. The interaction is insensitive to Ca(2+). Overexpression in hippocampal neurons of a channel fragment containing the binding domain for tctex1 significantly decreases the surface expression of endogenous N- and P/Q-type Ca(2+) channels but not L-type Ca(2+) channels, as determined by immunostaining. Furthermore, disruption of the tctex1-Ca(2+) channel interaction significantly reduces the Ca(2+) current density in hippocampal neurons. These results underscore the importance of the specific tctex1-channel interaction in determining sorting and trafficking of neuronal Ca(2+) channels with different functionalities.     

DNA prime followed by protein boost enhances neutralization and Th1 type immunity against FMDV

Prime-boost strategy has been exhibited its potency to enhance immune responses, which would be important to the success to develop a vaccine against the foot-and-mouth disease virus (FMDV). An eukaryotic expression construct encoding the FMDV capsid VP1 protein with a recombinant VP1 protein or a commercial FMDV vaccine were tested in the prime-boost strategy in mice and cattle trials. The levels of induced specific antibodies, T cell proliferations, and DTH activities were significantly higher in the prime-boost groups than in those vaccinated with DNA, protein or FMDV vaccine alone. More importantly, the levels of neutralizing antibodies in the former groups were significantly higher than others and could last for at least four months in cattle trials. This study suggests that the prime-boost strategy significantly improves the effective immunity and may provide a longer protection against FMDV infection.