Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples

The activity of urea cycle enzymes was assayed in duodenal biopsy specimens obtained from a female infant who presented with neonatal hyperammonaemia. All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal control specimens. A similar deficiency of CPS1 was also shown in duodenal specimens from the patient's mother who became slightly symptomatic after relatively high protein meals and during pregnancy, and had spontaneously modified her diet to one with protein restriction. The patient is growing normally on a dietary regimen similar to that spontaneously adopted by her mother. Urea cycle enzyme activity in the duodenal biopsy material from the controls was similar to that found in the normal human liver and appears to have distinct advantages as a means of assaying for urea cycle defects in patients with hyperammonaemia and their relatives.     

Flexion compromises ventilation with the laryngeal tube suction II in children

Background: There are insufficient data as to the influence of the head and neck flexion, extension, and rotation on the ventilation with laryngeal tube suction II^® (LTS II). The purpose of this study was to investigate the influence of the head and neck position on oropharyngeal sealing pressure (primary outcome) and ventilation score (secondary outcome) during ventilation with the LTS II in children. Methods: We studied 33 children scheduled for elective surgery. Oropharyngeal sealing pressure and ventilation score were measured with the head and neck in a neutral position, flexed, extended and rotated to the right. The ventilation score was scored from 0 to 3 based on three items (no leakage with an airway pressure of 15 cmH₂O, bilateral chest excursion, and a square wave capnogram; each item scored 0 or 1 point). Peak inspiratory pressure (PIP) at a tidal volume of 10 ml·kg^?1 and fiberoptic laryngeal views were also assessed in each position. Results: Although the sealing pressure was lower in the extended position [22 (8) cmH₂O] than that in the neutral position [25 (7) cmH₂O], there was no significant leakage during ventilation with a tidal volume of 10 ml·kg^?1. In the neutral, extended and rotated positions, the median ventilation scores were better (3 point respectively) than that with the head and neck flexed (1 point). PIP was decreased with the head and neck extended or rotated but was significantly increased in flexion position. During fibreoptic examination, the vocal cords were more easily seen in extension and right rotation, compared with the neutral position and flexion. Conclusions: Although oropharyngeal sealing pressure is decreased with the head and neck extended, effective ventilation with LTS II can be performed like in the neutral position or the rotated position. While the sealing pressure is maintained with the head and neck flexed, flexion compromises the ventilation with LTS II in children.     

膀胱癌术后腹壁切口种植转移的治疗与预后

目的　总结膀胱部分切除术后腹壁切口种植转移患者的诊治效果。　方法　 1985～1999年共收治膀胱癌术后腹壁切口种植转移患者 10例。男 9例 ,女 1例。年龄 39～ 6 8岁。移行细胞癌 6例 ,均为低分化G3 肿瘤 ;移行细胞癌合并鳞癌和腺癌各 1例 ,鳞癌和粘液腺癌各 1例。腹壁转移灶 1.0～ 6 .9cm× 1.4～ 11.5cm。　结果　采用膀胱全切加腹壁转移灶切除 2例 ,经尿道膀胱肿瘤电切术 (TURBT)加腹壁转移灶切除 1例 ,尿流改道加放疗和 (或 )化疗 2例 ,腹壁转移灶切除加放疗和 (或 )化疗 3例 ,单纯放疗和 (或 )化疗 2例。 10例中死亡 7例 ,其中 6例生存 4～ 14个月 ,1例生存4 1个月 ;3例存活者随访 5～ 9个月 ,未见复发。　结论　膀胱癌术后腹壁切口种植转移癌一般分化差 ,或合并其他癌。膀胱全切加肿物切除 ,辅助放化疗虽然能延长患者生存期 ,但预后很差     

Protein Losing Enteropathy in Severe Atopic Dermatitis in an Exclusively Breast-Fed Infant

Abstract:   We first report a case of protein losing enteropathy in severe atopic dermatitis in an exclusively breast-fed 5-month-old infant. Protein losing enteropathy was confirmed by fecal α₁-antitrypsin clearance test and imaged successfully by ^99mTc-human serum albumin scintigraphy. The present case highlights that protein losing enteropathy in severe infantile atopic dermatitis is being a topic of concern and also an issue even in exclusive breast feeding patients.     

核基质蛋白22在上尿路移行细胞癌诊断中的作用

目的　探讨核基质蛋白 2 2 (NMP 2 2 )在上尿路移行细胞癌诊断中的作用。　方法　对2 4例肾盂癌及输尿管癌患者和 2 0例良性泌尿系疾病患者尿中NMP 2 2浓度及尿细胞学进行检测 ,计算诊断敏感性和特异性。　结果　 2 4例TCC患者尿液标本尿细胞学阳性 14例 ,NMP 2 2阳性 2 1例 ;2 0例良性泌尿系疾病患者尿液标本细胞学阳性 1例 ,NMP 2 2阳性 4例 ,NMP 2 2的诊断敏感性和特异性分别为 87.5 %和 80 .0 % ,尿细胞学为 5 8.3%和 95 .0 % ,比较二者敏感性差别有显著性意义。　结论　NMP 2 2可能成为检测上尿路移行细胞癌的良好辅助手段     

Huge adrenal haemangioma

Adrenal tumours are either functioning or non-functioning. Non-functioning adrenal tumours are generally asymptomatic and usually of enormous proportions at the time of presentation. A case is presented here of a patient with a huge right adrenal haemangioma which was successfully treated surgically. This unusual tumour was 25 cm in diameter, was well encapsulated and weighed 4 kg. The literature pertaining to this interesting case is reviewed.     

腹腔镜肾上腺手术中转开放手术及合并症分析

目的　分析腹腔镜肾上腺手术中转开放手术原因及合并症处理。　方法　对 19例腹腔镜肾上腺肿瘤切除术中 8例转开放手术的原因及合并症进行分析。　结果　 8例手术中转开放手术患者包括右肾上腺中静脉出血 1例 ,胰尾遮挡肾上腺肿瘤暴露困难 1例 ,左肾上腺囊肿被副脾遮挡1例 ,手术过程中气腹不满意 2例 ,未找到病灶 2例 ,腹膜后镜手术穿刺时引起腰大肌出血 1例。术后高热 3例 ,其中腹膜后脓肿 1例 ,反应性胸膜炎 1例。　结论　腹腔镜和腹膜后镜手术需要一定经验和熟练的配合 ,初学者操作易出现合并症 ,导致手术失败。腹膜后镜手术治疗肾上腺疾病更简便     

雄激素剥夺条件下阻断自噬增加LNCaP细胞凋亡

Objective To investigate the change of apoptosis in LNCaP cells after inhibition of autophagic process under androgen removal conditions. Methods The autophagic level was deter-mined by using confocal microscopy and RT-PCR. The DAPI staining was used to indicate the apopto-sis of LNCaP cells after inhibition of autophagic by 3-MA. Also, Z-VAD-FMK was used to extend the apoptosis results. Results ①Androgen deprivation led to increased autophagy in LNCaP cells. LN-CaP cells cultured in complete medium(CM) presented low autophagic process with 1.9 scores. After 24 hours, the punetate GFP-LC3 structures were accumulated in the cells cultured in serum-free medi-um (SF)(2.64 scores). In contrast, the number of punctate GFP-LC3 remained at a very low level (1.85 scores), when cells were incubated with DHT in SFA(serum-free medium+DHT). Statistical analysis showed the significant difference between SF and SFA (P<0.01). Semiquantitative RT-PCR was employed to examine the mRNA expression of LC3. Indeed, cells grown in the medium without serum had a higher LC3 mRNA expression with the highest at 12 hour time point as compared with the cells grown in CM. DHT treatment reduced the level of LC3 mRNA. ②Blockage of autophagy by 3-MA increased the apoptosis of LNCaP cells. LNCaP cells in SF and SFA just presented a basal level of apoptosis, which is (3.19±1.09)% and (3.01±0.33)% , respectively. Under androgen-free con-ditions, inhibition of autophagy by 3-MA could increase apoptosis significantly(10. 90±2.91%). While Z-VAD-FMK, a pan Caspase inhibitor, was able to suppress this apoptotic process to the level of (1.16±0.52)%, which was statistically significant(P<0.01). Conclusions Androgen removal can lead to the increase of autophagy in LNCaP cells. Moreover, inhibition of autophagy promotes the occurrence of apoptosis.     

神经淋巴瘤病一例报告

神经淋巴瘤病(neurolymphomatosis,NL)是指非霍奇金淋巴瘤浸润周围神经系统,临床表现以周围神经损害为主,病理检查可以发现肿瘤细胞在神经组织浸润伴随有髓神经纤维轴索或髓鞘损害.本文报道1例通过神经活检证实的神经淋巴瘤病.     

An assessment of fertility in male workers exposed to molinate.

Molinate is a thiocarbamate herbicide used for weed control in rice fields. Since the late 1970s, findings from reproductive toxicology studies of rats have led to concern that molinate might affect human male fertility. Semen samples were collected from 272 formulation and production workers at three US plants. The samples were collected at the end of four alternate monitoring periods of either high or low exposure to molinate. In addition, 222 married workers provided reproductive-history information. Workers' mean exposures to molinate during the monitoring periods ranged from 12.7 micrograms/m3 to 210.9 micrograms/m3. There was no evidence that sperm and serum hormone levels were related to exposure to molinate before the study or exposure during the four monitoring periods. There was also no evidence of a molinate exposure-related effect on the ratio of observed to expected births.