Of mice,men, and King Tut: autosomal recessive Klippel–Feil syndrome is caused by mutations in MEOX1

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel‐Feil anomaly. Jawahir et al. (2013) The American Journal of Human Genetics 92: 157–161     

Lower limb and back pain in Guillain-Barré syndrome and associated contrast enhancement in MRI of the cauda equina

This study assesses the frequency of lower limb and back pain in children with Guillain-Barré syndrome and reviews the magnetic resonance imaging results of those undergoing spinal imaging. Over an 8-y period, nine children presented with various combinations of severe back pain, leg pains, impairment of gait and bladder dysfunction. Guillain-Barré syndrome was confirmed on clinical examination and peripheral electrophysiology ( n = 8). Magnetic resonance imaging in four patients, following contrast injection, showed enhancement of the cauda equine and, additionally, of the cervical nerve roots in one of the patients. A further patient, who was not scanned with contrast, had abnormal thickening of the lumbar roots. Carbamazepine and steroids were effectively used for analgesia in three cases. All the patients recovered.
Conclusion: Guillain-Barré syndrome should be considered in the differential diagnosis of children presenting with back and/or leg pain. Early diagnosis ensures prompt monitoring for autonomic dysfunction and respiratory compromise.     

选择性血流阻断配合超声乳化吸引刀切除中央型肝肿瘤

目的 探讨选择性血流阻断配合超声乳化吸引刀切除中央型肝肿瘤的效果.方法 选择性阻断肿瘤所在肝叶的进出血流,超声乳化吸引刀解剖,行中央区肝段切除.结果 自2006年7月至2008年1月,采用这种外科技术治疗中央型肝肿瘤46例.本组患者术前肝功能Child A级43例,Child B级3例.39例患者一次性肝区域性全血流阻断8～33 min.术中出血量100～2400ml,平均490ml.43例术后在一周内肝功能恢复至A级;3例术后出现腹水,其中1例并发黄疸;2例发生胆瘘;1例胃瘫,1例术后第3天并发大面积心梗死亡.35例恶性肿瘤患者中位随访9个月,1例患者术后10个月因肿瘤腹腔及肝内转移死亡,34例患者至今无瘤生存.结论 肝区域性进出血流阻断能有效控制切肝时的出血;应用超声乳化吸引刀切肝,解剖清晰,综合应用这两种技术,能较安全地切除肝脏任何部位的肿瘤.     

Difficulties in diagnosing intrinsic spinal cord tumours

Thirteen children with intrinsic spinal cord tumours were seen between 1984 and 1995. In only one was this the presumptive diagnosis at referral, despite a high incidence of characteristic features. Eight had presented to their local paediatrician, four to local orthopaedic teams, and one to a general surgeon. Eleven had back pain. Eleven had either spinal curvature or change in gait. The interval between onset of symptoms and diagnosis ranged from one week to six years, with a mean of 17.5 months. In nine children symptoms had been present for four or more months. In nine, unrewarding investigations had been carried out. This paper highlights typical presenting features of these tumours and how earlier diagnosis can be achieved.     

Timing of intraventricular haemorrhage

The detection of the onset of intraventricular haemorrhage (IVH) during life is a necessary preliminary to understanding the cause of this condition. In 10 infants of very low birthweight treated with serial transfusions of adult blood the proportions of transfused cells circulating after each transfusion were compared with the proportion of transfused cells found in the intraventricular clot at necropsy. This allowed the timing of IVH to be restricted retrospectively to the period between consecutive blood transfusions. In addition, the proportional changes of transfused cells produced by infusion of a known red cell mass allow changes in the babies' original red cell mass to be followed during life. A fall in this value occurred in 8 infants dying with IVH and was taken to indicate haemorrhage. Comparison of the two methods in 9 infants suggested that, while in some cases intraventricular bleeding occurs rapidly, in others it takes place over a period of time. The interval between birth and the onset of haemorrhage was directly proportional to the gestational age of the infant.     

Multiplex DNA short tandem repeat analysis. A useful method for determining the provenance of minute fragments of formalin-fixed, paraffin-embedded tissue

A tiny fragment of high-grade carcinoma was found in histologic sections and in the paraffin block of a benign cervical polyp from a patient with no clinical evidence of malignancy. Thus, it raised the suspicion of block contamination. No malignant tumor was processed the same day as the polyp; however, a similar tumor had been processed 6 days earlier. Multiplex DNA short tandem repeat analysis was applied to paraffin-extracted tissue samples obtained from the polyp, the suspected contaminant, the patient's additional cervical biopsy specimen, and the putative source of contamination. The results demonstrated that the suspected contaminant and the patient's cervical tissue could not have come from the same patient and that the suspected contaminant derived from the tumor processed earlier, without reasonable doubt. We hypothesize that this friable tumor escaped from cassettes into the processor and contaminated the polyp specimen. Multiplex DNA short tandem repeat analysis can be applied to determine the provenance of minute tissue samples in surgical pathology.     

Effects of aggressive blood pressure control in normotensive type 2 diabetic patients on albuminuria, retinopathy and strokes

BACKGROUND: Although several important studies have been performed in hypertensive type 2 diabetic patients, it is not known whether lowering blood pressure in normotensive (BP <140/90 mm Hg) patients offers any beneficial results on vascular complications. The current study evaluated the effect of intensive versus moderate diastolic blood pressure (DBP) control on diabetic vascular complications in 480 normotensive type 2 diabetic patients. METHODS: The current study was a prospective, randomized controlled trial in normotensive type 2 diabetic subjects. The subjects were randomized to intensive (10 mm Hg below the baseline DBP) versus moderate (80 to 89 mm Hg) DBP control. Patients in the moderate therapy group were given placebo, while the patients randomized to intensive therapy received either nisoldipine or enalapril in a blinded manner as the initial antihypertensive medication. The primary end point evaluated was the change in creatinine clearance with the secondary endpoints consisting of change in urinary albumin excretion, progression of retinopathy and neuropathy and the incidence of cardiovascular disease. RESULTS: The mean follow-up was 5.3 years. Mean BP in the intensive group was 128 +/- 0.8/75 +/- 0.3 mm Hg versus 137 +/- 0.7/81 +/- 0.3 mm Hg in the moderate group, P < 0.0001. Although no difference was demonstrated in creatinine clearance (P = 0.43), a lower percentage of patients in the intensive group progressed from normoalbuminuria to microalbuminuria (P = 0.012) and microalbuminuria to overt albuminuria (P = 0.028). The intensive BP control group also demonstrated less progression of diabetic retinopathy (P = 0.019) and a lower incidence of strokes (P = 0.03). The results were the same whether enalapril or nisoldipine was used as the initial antihypertensive agent. CONCLUSION: Over a five-year follow-up period, intensive (approximately 128/75 mm Hg) BP control in normotensive type 2 diabetic patients: (1) slowed the progression to incipient and overt diabetic nephropathy; (2) decreased the progression of diabetic retinopathy; and (3) diminished the incidence of stroke.