Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report

We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder.     

Osteogenic alveolar distraction: a review of the literature.

OBJECTIVE: Alveolar distraction is a relatively novel procedure by which alveolar bone and underlying mucosa are regenerated. The low predictability of other vertical or horizontal bone regeneration methods has increased interest in this promising technique. This article was designed to review published clinical and experimental results on alveolar distraction, including basic research in other disciplines (maxillofacial and orthopedic distraction) related to or with influence on alveolar distraction. STUDY DESIGN: A review of the international literature was performed to summarize results of clinical and experimental studies on alveolar distraction and on distraction at other anatomical sites that contribute important findings on tissue biology, molecular mechanisms, and other factors that influence and participate in the alveolar distraction process. RESULTS: Research into alveolar distraction has addressed the latency phase, distraction phase, and consolidation phase, yielding highly variable results. Little experimental research has been carried out on this procedure, and most publications are clinical studies with a short follow-up period. Published studies have reported a high rate of complications, attributable to our current lack of understanding of the process. CONCLUSIONS: Definitive conclusions on alveolar distraction are hampered by the lack of clinical and experimental studies to date. Greater knowledge of the factors that influence the distraction process will lead to a more predictable and efficacious distraction technique and a better distractor design.     

Obstructive Uropathy Secondary to Ureteral Herniation in a Pediatric En Bloc Renal Graft

Ureteral herniation is a rare entity. We report the first case of extraperitoneal ureteral herniation in a pediatric en bloc renal graft causing obstructive uropathy. A 70-year-old, obese patient with an en bloc renal transplant was found to have ureterohydronephrosis in the right renal graft on magnetic resonance imaging. Nephrostomy with insertion of a double-J catheter confirmed the presence of a ureteral loop within the inguinal tract. Surgery confirmed herniation of the ureter through the internal inguinal ring, crossing over the spermatic cord. We performed release, resection, ureteral reimplantation and hernioplasty. Four months later, renal function was normal and urinary tract dilation had diminished. This case illustrates an unusual cause of obstructive uropathy in a transplanted kidney. Apart from obesity, two other factors may have contributed to its development: presence of a redundant ureter, and the fact that the ureter had been placed over, rather than under, the spermatic cord.     

钝性肝脾肾损伤的CT平扫与增强扫描比较

目的:比较CT平扫与增强扫描对肝脾肾钝性损伤的诊断能力。方法:回顾性分析临床疑似钝性肝脾肾损伤,并经手术和临床观察证实的CT平扫和增强扫描的患者84例。结果:平扫确定的损伤:肝12例,脾25例,肾5例;平扫可疑损伤:肝22例,脾15例,肾5例。增强确定的损伤:肝32例,脾40例,肾12例(全肾梗塞1例,局限性梗塞3例);对比剂外溢(活动性出血)3例;无可疑损伤。平扫无异常而增强确定有损伤:肝10例,脾5例,肾2例。增强显示的损伤灶比平扫范围明显大、病灶多、界限清楚。结论:CT增强扫描显示肝脾肾损伤明显优于平扫,延时扫描有助于发现活动性出血,应常规增强扫描。     

Juvenile Xanthogranuloma with Ocular Involvement

Abstract:   Juvenile xanthogranuloma is a benign histiocytic skin disorder encountered primarily in infancy and childhood. Approximately 0.4% of cases exhibit ocular manifestations, which can result in glaucoma and blindness. We present a case of a 7-month-old male with unilateral glaucoma associated with Juvenile xanthogranuloma, and emphasize the importance of an ocular screening in patients with Juvenile xanthogranuloma, especially those with periocular lesions.     

Interaction of niacin and zinc metabolism in patients with alcoholic pellagra

The effect of zinc supplementation on the metabolism of tryptophan conversion to niacin was studied in 14 alcoholic patients with pellagra and in 7 male control subjects aged 21-45 y. The pellagrins received chemically defined diets based on crystalline amino acids through an enteral tube for 7 d. Patients were divided into two groups (A and B), both receiving a diet from which tryptophan, Zn, and niacin were excluded. Patients in group B, however, received 220 mg Zn sulfate orally. Upon admission the pellagra patients had low plasma Zn levels and low urinary excretion values of N'methylnicotinamide (N'MN) and N'methyl-2-pyridone-5-carboxamide (2-PYR) in relation to the control subjects (p less than 0.01). During the experimental period there was an increase in plasma Zn levels (p less than 0.005) and in urinary N'MN (p less than 0.05) and 2-PYR (p less than 0.05) excretion in the patients receiving Zn supplementation (group B). These results suggest that Zn interacts with niacin metabolism in alcoholic patients with pellagra through a probable mediation by vitamin B-6.     

5-羟色胺受体激动剂对脊髓损伤猫排尿功能的影响

目的探讨5-羟色胺(5-HT)受体激动剂对猫脊髓损伤后膀胱过度活动的影响。方法雌性猫18只,其中正常假手术组5只,脊髓损伤组13只。术后6~8周,氯醛糖麻醉下,在猫颈动脉及膀胱内置管,连接压力感受器,记录诱发膀胱收缩的膀胱容量阈值、膀胱容量、剩余尿量、排尿量和血压。静脉注入5-HT1A受体激动剂8-OH-DPAT(0.3~30μg/kg)或5-HT1B/1D受体激动剂GR-46611(0.03~300μg/kg),得到剂量-效应曲线后再给予5HT1A受体抑制剂WAY-100635(300μg/kg),比较给药前后各项指标变化。结果正常猫使用8-OH-DPAT后,膀胱容量阈值、膀胱容量、剩尿量均有增加趋势,但差异无统计学意义;8-OH-DPAT和GR-46611均能使脊髓损伤猫的膀胱容量阈值、膀胱容量、剩余尿量增加,且效应随着剂量增加而增加,差异有统计学意义。WAY-100635能抵消8-OH-DPAT的作用,但对GR-46611无影响。结论5-HT1A和5-HT1B/1D受体激动剂能改善慢性脊髓损伤后的膀胱过度活动,增加膀胱容量。     

64排螺旋CT冠状动脉造影与DSA的对照研究

目的:通过和冠脉造影对比,评价64排螺旋CT冠状动脉成像在冠状动脉狭窄中的临床应用价值。方法:28例患者同时行64排螺旋CT冠状动脉成像和有创性冠脉造影检查,依据AHA17段分段法,评价所有有效节段,并将两者进行对比。结果:冠脉造影显示阴性病例占7.1%(2例),单只病变占21.4%(6例),多支病变占71.4%(20例)。按节段分析,CT检出冠脉狭窄的敏感度,特异度,阳性预测值和阴性预测值分别为91.1%,94.6%,90.0和95.3%。结论:64排螺旋CT冠状动脉成像和传统的冠脉造影检查对检出正常冠脉节段以及狭窄节段具有很好的一致性。