The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.     

The flaws of laser Doppler in negative‐pressure wound therapy research

Recent studies, using modalities other than laser Doppler, have indicated that perfusion during negative‐pressure wound therapy (NPWT) is reduced, contrary to world literature. The aim of the present study was to evaluate whether the measuring technique of the laser Doppler could be influenced by the compressive nature of NPWT dressings and whether this could explain the conflicting findings. A hypothesis that it may be possible for laser Doppler to record similar readings to those obtained during NPWT by merely compressing tissues manually was tested on 12 NPWT dressings, with each undergoing an alternating series of manual compressive forces and NPWT (?125 mmHg). During the periods of NPWT (n = 12), the mean perfusion recording increased in five experiments, reduced in six, and remained unchanged in one. During the period when manual pressure was applied (n = 12), there was a mean increase in perfusion in six experiments and a reduction in six. The type of change in perfusion (increase or decrease) was the same for both NPWT and manual pressure in 10 of the 12 experiments. In conclusion, laser Doppler can incorrectly record increased perfusion when tissues are compressed, implying that it is flawed in the field of NPWT research as tissues are always compressed to some degree by the NPWT dressing.     

Influence of lightweight ambulatory oxygen on oxygen use and activity patterns of COPD patients receiving long-term oxygen therapy

Lightweight ambulatory oxygen devices are provided on the assumptions that they enhance compliance and increase activity, but data to support these assumptions are lacking. We studied 22 patients with severe chronic obstructive pulmonary disease receiving long-term oxygen therapy (14 men, average age = 66.9 y, FEV(1) = 33.6%pred, PaO(2) at rest = 51.7 torr) who were using E-cylinders as their portable oxygen. Subjects were recruited at 5 sites and studied over a 2-week baseline period and for 6 months after randomizing them to either continuing to use 22-lb E-cylinders towed on a cart or to carrying 3.6-lb aluminum cylinders. Utilizing novel electronic devices, ambulatory and stationary oxygen use was monitored continuously over the 2 weeks prior to and the 6 months following randomization. Subjects wore tri-axial accelerometers to monitor physical activity during waking hours for 2-3 weeks prior to, and at 3 and 6 months after, randomization. Seventeen subjects completed the study. At baseline, subjects used 17.2 hours of stationary and 2.5 hours of ambulatory oxygen daily. At 6 months, ambulatory oxygen use was 1.4 ± 1.0 hrs in those randomized to E-cylinders and 1.9 ± 2.4 hrs in those using lightweight oxygen (P = NS). Activity monitoring revealed low activity levels prior to randomization and no significant increase over time in either group. In this group of severe chronic obstructive pulmonary disease patients, providing lightweight ambulatory oxygen did not increase either oxygen use or activity. Future efforts might focus on strategies to encourage oxygen use and enhance activity in this patient group. This trial is registered at ClinicalTrials.gov (NCT003257540).     

Threatened abortion: sonographic distinction of normal and abnormal gestation sacs

In an attempt to determine whether sonographic evaluation alone can distinguish normal from abnormal gestation sacs, a retrospective analysis was performed of ultrasound (US) scans from 168 women with threatened abortion. Gestation sacs were judged to be abnormal on the basis of specific sonographic criteria including large size (greater than or equal to 25 mm mean sac diameter) without an embryo; distorted shape; thin (less than or equal to 2 mm), weakly echogenic, or irregular choriodecidual reaction; absence of a double decidual sac; and low position. Two criteria - large sac and distorted shape - had 100% specificity and were called major criteria. The remaining criteria were individually less specific, although 100% specificity was achieved when three or more of these minor criteria were demonstrated. When one major or three minor criteria were present, 53% of abnormal gestations were correctly identified without any false-positive diagnoses. The authors conclude that experienced sonographers can reliably identify many abnormal gestation sacs on a single examination.     

Comparison of arm and leg ergometry in patients with moderate chronic obstructive lung disease.

Exercise testing is traditionally performed with leg exercise on either a treadmill or a bicycle ergometer. Many of these tests are terminated before dyspnoea occurs because of leg fatigue, arthritic pain, or claudication. A study was carried out to determine whether arm ergometry testing might serve as an alternative method to leg testing in eight patients with chronic obstructive lung disease. The patients had mild to moderate dyspnoea on exertion and required bronchodilator treatment. They had smoked an average of 62 pack years and had a mean FEV1 of 1.88 l. Arm and leg ergometry yielded similar levels of maximum ventilation (arm 47.2, leg 48.6 l/min), maximum heart rates (126 v 124 beats/min), maximum tidal volume (1.5 v 1.6 l), and respiratory rate (30 v 29 breaths/min); but maximum oxygen consumption (1120 v 966 ml/min), maximum power output (62 v 26 w), and oxygen pulse (9.1 v 7.8 ml/beat) were all higher with leg than with arm ergometry. In addition, ventilation and heart rate at a given level of oxygen consumption were higher for arm than for leg work during both submaximal and maximal exercise. It is concluded that arm ergometry offers an alternative testing method to leg testing in patients with moderate chronic obstructive lung disease.     

Pyoderma gangrenosum, erythema elevatum diutinum and IgA monoclonal gammopathy

A patient with erythema elevatum diutinum (EED) developed pyoderma gangrenosum (PG). Investigation revealed an IgA kappa monoclonal gammopathy. Previous reports of PG in association with EED are reviewed and the spectrum of the neutrophilic dermatoses discussed.     

Acute appendicitis: sonographic criteria based on 250 cases

Two hundred and fifty consecutive patients with suspected appendicitis were examined with graded compression sonography. The initial diagnostic criterion for appendicitis was visualization of a noncompressible appendix; this was later modified to include the dimensions of the visualized appendix. The appendix was visualized in 91 of 250 patients (36%). Five adult patients with sonographically visible appendixes that were 6 mm or less in maximal diameter had either benign clinical follow-up (three patients) or a histologically normal appendix removed at surgery (two patients). However, two patients with appendixes measuring 6 mm in diameter and multiple appendicoliths had surgically confirmed acute appendicitis. Of 84 patients with visible appendixes measuring greater than 6 mm in maximal diameter, 78 had surgically confirmed acute appendicitis. In the remaining six, symptoms resolved spontaneously, and no surgery was required. In the absence of compelling clinical findings or an appendicolith, adult patients with maximal appendiceal diameters of 6 mm or less should undergo a period of close observation rather than immediate surgery. A diagnosis of appendicitis can be made in adult patients with persistent right lower quadrant pain and a visualized appendix greater than 6 mm in diameter.