先天性一侧肺动脉缺如的电子束CT诊断

目的 评价电子束CT(EBCT)诊断先天性一侧肺动脉缺如的价值。方法 对经平片、超声心动图检查后拟诊为肺血管疾病或原发性肺动脉高压的患者行EBCT检查，EBCT诊断先天性一侧肺动脉缺如的11例患者入选，并与超声心动图、核素通气灌注扫描、心血管造影的检查结果作进一步的比较及评估。结果 单发一侧肺动脉缺如4例，均为女性成年人。合并多发心血管畸形7例，其中合并复杂畸形3例，均为男性儿童和左肺动脉缺如；合并单发心血管畸形4例，其中3例为右肺动脉缺如。结论 (1)儿童时期明确诊断的一侧肺动脉缺如多合并有心血管畸形，且左肺动脉缺如多见，成年人明确诊断的单发一侧肺动脉缺如多为右肺动脉缺如。(2)EBCT对先天性一侧肺动脉缺如的诊断有较高的实用价值，较之多普勒超声更为准确，与心血管造影各具独特优势，但EBCT为无创检查是其特点。     

Increased incidence of congenital hypothyroidism due to iodine deficiency

BACKGROUND: The incidence of congenital hypothyroidism (CH) is expected to be elevated in iodine-deficient areas. In this study, the authors aimed to determine the incidence of transient and permanent CH in a large city which is known to be in the zone of moderate iodine deficiency. METHODS: Newborn babies in Bursa, Turkey, were screened by measurement of serum thyroid-stimulating hormone (TSH) obtained by heel prick. The babies who had a serum TSH >20 mIU/L were recalled for measurement of T4 and TSH in venous serum. RESULTS: A total of 11 770 newborns were screened over a period of 9 years. The incidence of CH was found to be 1/840. However, after excluding the transient cases, permanent CH was diagnosed in 1/2354. It was impossible to distinguish transient patients from permanent CH by initial laboratory tests (P > 0.05). The estimated power of the study in determining the incidence of CH in the population was 90% (P < 0.05). CONCLUSION: The authors conclude that the incidence of CH is very high in their population which warrants a country-wide neonatal screening program. Since transient cases cannot be distinguished and untreated transient hypothyroidism may also cause mental retardation, treatment must be started as early as possible with frequent monitoring to optimize the outcome and identify the transient patients.     

Cosmetic benefits of lower midline skin incision for pediatric open heart operation

OBJECTIVE: Since we developed the procedure in 1996, we have now performed 100 pediatric open heart operations using a lower midline skin incision and a minimal sternotomy approach. METHODS AND RESULTS: To elucidate the benefits of this approach, we analyzed these 100 cases retrospectively. There was no death, and no major complication, caused by this approach, and the resulting scarring in each patient is difficult to be seen under a common undershirt. CONCLUSION: This review shows that the technique of a lower midline skin incision and minimal sternotomy approach is a safe reliable and cosmetically advantageous method for a pediatric cardiac operation.     

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。     

Lethal Congenital Muscular Dystrophy with Arthrogryposis Multiplex Congenita: Three New Cases and Review of the Literature

Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops. The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy. Fatal CMD seems to be distinct from CMD with survival after birth and is probably autosomal recessively inherited.     

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.