先天性心脏病患儿肺动脉,上腔静脉血一氧化氮含量检测及意义

目的:探讨一氧化氮(NO)与先天性心脏病(CHD)引起的肺动脉高压(PH)发病间的关系。方法:应用NO试剂盒检测了CHD患儿肺动脉及上腔静脉血浆中NO含量。结果;(1)伴PH组肺动脉血浆NO含量明显高于不伴肺动脉高压组(37.58±9.99μmol/L:19.03±15.25μmol/L,P<0.01);(2)在PH组中,肺动脉血浆NO含量明显高于上腔静脉血(P<0.01);而不伴PH组,肺动脉和上腔静脉血浆NO含量无显著性差异(P>0.05)。结论:(1)伴PH的先心患儿肺动脉血浆NO含量升高;(2)NO可能介入了CHD引起的PH发病过程。     

Convergence of occipital nerve and superior sagittal sinus input in the cervical spinal cord of the cat

Co-existence of facial and occipital pain may occur in occipital neuralgia, migraine and cluster headache; suggesting convergence of trigeminal and cervical afferents. Such convergence has been shown in humans and other animals, but the site and extent of this are uncertain. In anaesthetized adult cats, the superior sagittal sinus and occipital nerve were stimulated electrically, and extracellular recordings made in the dorsolateral area of the upper cervical cord using glass-coated tungsten electrodes. Of 49 units in 10 cats, 33 (67%) had input from the superior sagittal sinus and the occipital nerve. Thirteen (27%) had superior sagittal sinus input and 3 (6%) had occipital nerve input. Convergent receptive fields were identified mechanically in 7 units. These experiments in cats show convergent input from occipital nerve and superior sagittal sinus on dorsolateral area units in two-thirds of cases studied. This experimental site of trigeminocervical convergence may relate to referral of pain in occipital neuralgia and other headaches.     

Cohen syndrome: fertility in a female patient

In this report we describe fertility in an adult female with Cohen syndrome. She gave birth to a son, now 1.5 years old, with discrete facial stigmata and slight psychomotor retardation.     

Persistent left superior vena cava draining to left atrium with normal coronary sinus

In embryology, a persistent connection of the left superior vena cava to the left atrium rarely coexists with a coronary sinus. We herein report an unusual case of persistent left superior vena cava terminating in a left atrium with normal coronary sinus, which was revealed at the time of permanent pacemaker implantation after a second operation for recurrent left atrioventricular valve regurgitation. Because this anomaly had gone undiagnosed at the first operation, we were unable to diagnose it prior to the second operation, because the preoperative coronary angiogram clearly demonstrated a coronary sinus that was not dilated. We would have repaired the anomaly using a patch or other procedure had it been diagnosed before the second operation in order to prevent cyanosis or brain complications secondary to right-to-left shunting. One should always be on guard for this rare condition.     

The Van der Woude syndrome: a case report and review of the literature

The Van der Woude syndrome is a rare autosomal dominant developmental malformation usually associated with bilateral lower lip pits. These congenital lip pits appear clinically as a malformation in the vermilion border of the lip, with or without excretion. As a genetic defect has been identified as a microdeletion of chromosome bands 1q32-q41, genetic counselling of patients may be considered. A nonsense mutation in the interferon regulatory factor-6 (IRF-6) is discussed as a pathogenic relevant factor. Therapeutic intervention is generally not necessary, although surgical excision is especially indicated in patients with recurrent inflammation. Physicians should be aware of the Van der Woude syndrome because it has been reported to be associated with a variety of malformations or other congenital disorders.     

Heart rate fluctuations in diabetic patients with cardiac vagal dysfunction: a spectral analysis

The autonomic nervous control of cardiac function during active orthostatic load has been studied by measuring the power spectrum of heart rate fluctuations in 16 insulin-dependent diabetic patients and 14 age-matched control subjects. The patients were subdivided into two groups: 8 with normal respiratory sinus dysrhythmia (RSA+) and 8 with reduced respiratory sinus dysrhythmia (RSA-). In RSA- patients the total power (0.01-0.50 Hz) was significantly reduced compared with control subjects (4.7 versus 15.5 min-2, 2p less than 0.05) and the pattern of heart rate fluctuations was characterized by a relative increase in the low-frequency component (0.01-0.05 Hz) as compared with RSA+ patients and control subjects (45% versus 24% and 27%, both 2p less than 0.01). There was also a significant reduction in the high-frequency component (0.15-0.50 Hz) as compared with RSA+ patients and control subjects (17% versus 36% and 33%, both 2p less than 0.05). During standing, a significant increase in total power was found only in control subjects (2p less than 0.01) and the difference between control subjects, and RSA+ and RSA- patients reached significance (32.2 versus 15.1 and 12.7 min-2, 2p less than 0.02 and 2p less than 0.01). The pattern of heart rate fluctuations in RSA- patients showed no significant change on standing. These results suggest that the reduced overall heart rate variability in diabetic patients with cardiac autonomic neuropathy is associated with a typical heart rate fluctuation pattern.     

142例先天性智能发育不全患儿的遗传学研究

应用细胞遗传学和皮纹分析方法对142例先天性智能发育不全患儿进行了研究。其中,120例正常核型,22例异常核型。异常核型46,XY,t(1;3;21)(1pter→1q32.1∶∶21p11.2→21qter;3 qter→3p26.2∶∶1 q32.1→1 qter)和45,X/45,X,-22,+der(22)t(Y;22)(22qter→22p11.1∶∶Yq11.1→Yq11.2)两种核型国内尚未见报道。皮纹分析结果表明56.7%的患者有1项以上异常皮纹;染色体异常患者均有2项以上异常皮纹;先天愚型患者有“特定”的皮纹改变。     

Recognition and management of patients with high-risk vesicovaginal fistulas: Implications for teaching and research

Vesicovaginal fistulas (VVFs) occurring as a result of obstetric trauma are a vast problem in Nigeria and Ghana, where at least 20 000 women await repair, and fewer than 50 physicians have the necessary expertise. Through a series of conferences those VVFs that are at high risk and those at low-risk for repair failure, were identified. A clinic was established where repair of low-risk VVFs was done on an ongoing basis in a remote region of Ghana. A visiting surgical team was utilized to repair the difficult, or high-risk, VVFs, which included 4–6 cm VVFs (3), recurrent VVF (1), combined VVF and RVF (rectovaginal fistula), a large 5 cm juxtacervical VVF (1), and a vesicouterine fistula (1). Management of these patients and others with VVF repair complications is discussed.     

TOTAL LARYNGECTOMY WITH PRIMARY VOICE RESTORATION

Forty-three patients were prospectively studied following tracheo-oesophageal puncture at the time of laryngectomy (primary voice restoration). Blom-Singer voice prostheses were used. The surgery was regarded as successful if a patient continued to use the voice prosthesis as the major means of communication with clear intelligibility 4 months after the operation. Using this criterion, the success in this series was 70%. No attempt was made to assess the quality of speech. Complications and causes of failure are discussed.     

婴儿先天性胆总管囊肿16例诊治分析

１９８５￣１９９４年作者单位共收治小儿先天性胆总管囊肿１０５例，其中年龄小于１２个月者１６例，占１５．２％，本病临床表现不典型，易延误诊治，超声检查可在产前检出本病，作者认为对于待续性黄疸的婴儿，保守治疗不宜时间过长，应积极手术探查。