Emma Hansson

Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management

Definition and clinical pictureWe propose the minimal definition of Dercum’s disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum’s disease include fatty deposits, easy bruisability, sleep disturbances, impaired memory, depression, difficulty concentrating, anxiety, rapid heartbeat, shortness of breath, diabetes, bloating, constipation, fatigue, weakness and joint aches.ClassificationWe suggest that Dercum’s disease is classified into: I. Generalised diffuse form A form with diffusely widespread painful adipose tissue without clear lipomas, II. Generalised nodular form - a form with general pain in adipose tissue and intense pain in and around multiple lipomas, and III. Localised nodular form - a form with pain in and around multiple lipomas IV. Juxtaarticular form - a form with solitary deposits of excess fat for example at the medial aspect of the knee.EpidemiologyDercum’s disease most commonly appears between the ages of 35 and 50 years and is five to thirty times more common in women than in men. The prevalence of Dercum’s disease has not yet been exactly established.AetiologyProposed, but unconfirmed aetiologies include: nervous system dysfunction, mechanical pressure on nerves, adipose tissue dysfunction and trauma.Diagnosis and diagnostic methodsDiagnosis is based on clinical criteria and should be made by systematic physical examination and thorough exclusion of differential diagnoses. Advisably, the diagnosis should be made by a physician with a broad experience of patients with painful conditions and knowledge of family medicine, internal medicine or pain management. The diagnosis should only be made when the differential diagnoses have been excluded.Differential diagnosisDifferential diagnoses include: fibromyalgia, lipoedema, panniculitis, endocrine disorders, primary psychiatric disorders, multiple symmetric lipomatosis, familial multiple lipomatosis, and adipose tissue tumours.Genetic counsellingThe majority of the cases of Dercum’s disease occur sporadically. A to G mutation at position A8344 of mitochondrial DNA cannot be detected in patients with Dercum’s disease. HLA (human leukocyte antigen) typing has not revealed any correlation between typical antigens and the presence of the condition.Management and treatmentThe following treatments have lead to some pain reduction in patients with Dercum’s disease: Liposuction, analgesics, lidocaine, methotrexate and infliximab, interferon α-2b, corticosteroids, calcium-channel modulators and rapid cycling hypobaric pressure. As none of the treatments have led to long lasting complete pain reduction and revolutionary results, we propose that Dercum’s disease should be treated in multidisciplinary teams specialised in chronic pain.PrognosisThe pain in Dercum’s disease seems to be relatively constant over time.

Adopted children with cleft lip or palate, or both, require special needs cleft surgery.

Abstract In recent years adoption of children with cleft lip, with or without cleft palate (CLP), and other birth defects has become more common. The aim of the present study was to describe the characteristics and initial care and treatment of adopted children with CLP. A total of 25 children were referred to our department between 2008 and 2010, 7 (28%) of whom had bilateral CLP and 16 (64%) had unilateral CLP. Two children had atypical clefts. Twenty of the patients (80%) had been operated on with a lip plasty in China before adoption. Most patients (n = 14) was seen by the cleft team within two months of arrival, and 13 were operated on within a month of the first visit at our department. In total, 22 primary palatoplasties, 6 lip plasties, and 1 lip adhesion were done. There were 5 fistulas (14%) three months after the palatoplasty. On arrival, 11 (44%) of the children were carriers of methicillin-resistant Staphylococcus aureus (MRSA). Adoption of children with CLP creates new challenges for the cleft teams, as we no longer have control over the overall treatment plan as regards preoperative and surgical treatment and timing of the operations. The patients are also often carriers of resistant bacteria, which create nursing challenges. In cases where the child is older than a year and has not been operated on, we advocate that the palatoplasty, or combined lip plasty and palatoplasty, is always given priority so that speech development is not compromised.

Low rate of fistula formation after Sommerlad palatoplasty with or without lateral incisions: An analysis of risk factors for formation of fistulas after palatoplasty.

The aim of palate repair is to restore normal eating and drinking function and normal speech development and still maintain undisturbed facial growth. The repair should be performed with a low frequency of complications. A number of factors are thought to contribute to the formation of fistulas after palatoplasty; they include patient factors and treatment issues. The aim of this study was to review all patients operated on with palatoplasties according to Sommerlad in our clinic, examine the fistula frequency and analyse risk factors for the development of fistulas after palate repair. During the study period, 175 patients were operated on with palatoplasties according to Sommerlad by the senior cleft surgeon. The group included 150 native patients and 25 adopted children. In the native population, seven patients developed fistulas and the fistula frequency was thus 5%. In the non-native group four patients developed fistulas, which gave a fistula frequency of 16%. In conclusion, the fistula frequency after Sommerlad repair of cleft palate is low in our material and few patients need fistula repair. The liberal usage of Langenbeck flaps might give a lower fistula rate. The most common place for fistulas is the junction of the soft and hard palate. No clear difference could be seen between different types of clefts. Syndromes and associated malformation seem to play a small role in the formation of fistulas. The fistula frequency in the non-native population is higher. A number of factors are different in the non-native population.

Analysis of complications after repair of hypospadias

We have reviewed 184 patients after repair of primary hypospadias. They were operated on and followed-up according to a standard protocol, and the senior author (HS) participated in all operations. The patients were reconstructed using a Byars two-stage procedure (n=102) or a Scuderi (n=29) or Mathieu (n=41) single-stage procedure. The rest (n=12) just had a removal of the chordee with realignment of the skin. Complications recorded were haematomas, postoperative infections, malfunction of catheter, urinary retention, fistulas, and strictures. Thirty-eight complications developed in 26 patients and the overall incidence of fistula was 22 in 18 patients (10%). Our findings suggest that the most decisive risk factor for complications is the severity of the primary malformation, because a severe malformation per se is difficult to treat as it requires a long reconstruction; in addition the curvature, shortage of tissue, and extensive surgery generally require a staged reconstruction in these cases. Other factors seem to be of much lesser importance.

Effects of fibrinogen and platelet supplementation on clot formation and platelet aggregation in blood samples from cardiac surgery patients

INTRODUCTION Bleeding after cardiac surgery may be caused by surgical factors, impaired haemostasis, or a combination of both. Transfusion of blood products is used to improve haemostasis, but little is known about what combination is optimal. We hypothesized that addition of both fibrinogen and platelets to blood samples from cardiac surgery patients would improve clot formation and platelet aggregation to a greater extent than if the components were added separately. MATERIALS AND METHODS Increasing doses of fibrinogen concentrate (+0.5, 1.0, and 1.5 g · l(-1)) and/or platelet concentrate (+46, 92, and 138 × 10(9) platelets l(-1)) were added to postoperative blood samples from 15 cardiac surgery patients. Clot formation was assessed with rotational thromboelastometry and platelet aggregation was assessed with multiple-electrode aggregometry before and after addition of the blood products. The effects of the different additives were compared. RESULTS AND CONCLUSIONS Ex vivo supplementation with fibrinogen or platelet concentrate resulted in significantly shortened clotting time and improved clot strength in a dose-dependent manner. Combination of fibrinogen and platelets further improved the clotting time and strength. Platelet supplementation enhanced platelet aggregation in a dose-dependent manner while fibrinogen had no or reducing effect. Combining fibrinogen and platelets improved platelet aggregation less than the use of platelets alone. In conclusion, combined platelet and fibrinogen supplementation of blood samples from cardiac surgery patients had an additive effect on clot formation compared to the individual components, but it resulted in less platelet aggregation than with platelet supplementation alone. These results may have implications for clinical transfusion protocols.

Postpubertal Examination after Hypospadias Repair Is Necessary to Evaluate the Success of the Primary Reconstruction.

INTRODUCTION Hypospadias is one of the most common congenital anomalies. There are many studies describing successful initial repair, but there are few studies examining long-term result. The aims of this study were to evaluate our patients that have been reconstructed for hypospadias and undergone final clinical examination after puberty and to assess how long clinical follow-up time is warranted after hypospadias repair. PATIENTS AND METHODS A standard protocol, with visits at ages 7, 10, 13 and a final clinical examination at the age of 16, was followed. To objectify our long-term functional and aesthetic results, Hypospadias Objective Scoring Evaluation (HOSE) was used. RESULTS A total of 114 boys reconstructed between 1989 and 2009 had undergone final clinical examination. Seventy-nine were classified as degree I, 25 as degree II, 6 degree III, 3 as degree IV, and 1 boy could not be classified retrospectively. Sixty-seven boys were operated on in stages according to Byars, 25 according to Mathieu, and 14 according to Scuderi. Only eight patients needed release of chordee and realignment of skin. Ten boys needed closure of fistulas and strictures had to be operated on in four cases. At the concluding visit, 86% of the patients had an excellent result according to the total HOSE score. It was noted that six patients had developed an incurvation between the prepubertal and postpubertal checkup. CONCLUSION It is important that the boys are followed according to a planned standardized protocol until they have passed puberty as incurvation may occur during puberty.

Development of a pressure-measuring device to optimize compression treatment of lymphedema and evaluation of change in garment pressure with simulated wear and tear.

The use of compression garments in treating lymphedema following treatment of genital (penis, testes, uterus, cervical) and breast cancer treatment is a well-established practice. Although compression garments are classified in compression classes, little is known about the actual subgarment pressure exerted along the extremity. The aims of this study were to establish an in vitro method for measuring subgarment pressure along the extremity and to analyze initial and over time subgarment pressure of compression garments from three manufacturers. The measurements were performed with I-scan(®) (Tekscan Inc.) pressure measuring equipment once a week during a period of 4 weeks. Wear and tear was simulated by washing and putting on the garments on plastic legs every day. There was a statistically significant difference between the garments of some of manufacturers. There was no difference between garments from the same manufacturer. No significant decrease of subgarment pressure was observed during the trial period. The study demonstrated that Tekscan pressure-measuring equipment could measure subgarment pressure in vitro. The results may indicate that there was a difference in subgarment pressure exerted by garments from different manufacturers and that there was no clear decrease in subgarment pressure during the first four weeks of usage.

Prenatal ultrasound detection of cleft lip, or cleft palate, or both, in southern Sweden, 2006-2010.

Abstract It has been possible to detect cleft lip (CL), with or without cleft palate (CLP), using ultrasound (US) since the beginning of the 1980s. The aim of this study was to assess the accuracy of prenatal diagnosis of cleft lip with or without cleft palate, and isolated cleft palate (ICP), in our catchment area. Screening protocols in the different US clinics in southern Sweden were also compared, as regards evaluation of the fetal face and prenatal diagnosis of CLP. Forty-four (31%) of the patients were diagnosed by prenatal US and 97/144 (67%) were diagnosed at birth. The detection rate was 44/102 (43%) if the ICP are excluded. The specificity was 100%. Among the prenatally diagnosed clefts, 25/44 (57%) were diagnosed before the gestational age of 20 weeks. In 19/44 (43%) of the cases the US diagnosis of cleft was accurate in the light of the postnatal outcome. All US departments in our catchment area follow the Swedish guidelines and offer one routine US examination during the second trimester between 18 and 20 weeks of pregnancy. In addition, many of the clinics offer an additional US examination during the third trimester. Our detection rate is similar to previous findings. The detection rates and the accuracy of the prenatal diagnosis can be improved. To achieve this, an increased focus on detecting clefts, standardising scanning plans, and rescans in case of incomplete facial views, are essential.

Prenatal compared with postnatal cleft diagnosis: what do the parents think?

Abstract Since the 1980s, prenatal detection of cleft lip with or without cleft palate (CLP) is possible with a transabdominal ultrasound. The improvement of prenatal detection has resulted in an increased demand for prenatal information and counselling. The aim of this study was to, by means of a questionnaire, evaluate how families, who received the diagnosis prenatally and postnatally, respectively, think about the prenatal and postnatal consultation. Patients referred prenatally or postnatally to the department, due to CLP, between January 2006 and September 2010 were included in the study. Thirty-six of the families (95%) answered the questionnaire concerning prenatal counselling. A total of 46 parents (82%) answered the questionnaire concerning postnatal counselling. In the prenatal group, half of the patients were first informed by the ultrasound unit, whereas 16% were initially informed by the cleft team. More of the families that were informed by the cleft team were content with the information received than the families who were informed by the ultrasound unit. The majority of the families were satisfied with the structure of the consultation. Most of the patients in the postnatal group were happy with the postnatal consultation. Most of the parents in the postnatal group would have wanted to know about the diagnosis prenatally. The great majority of the parents was happy with the consultation with the cleft team and thought that they received enough information. However, the information received at the referring units could be improved. Parents seem to want information on the cleft diagnosis and its treatment as soon as possible.

Reliability of plastic cups to measure breast volume

Abstract Breast volume measurement is valuable in clinical practice, and various methods have been used. Nonetheless, no commonly accepted standard technique exists for clinical everyday use and there is no optimal method that is quick, cheap, minimally invasive, and acceptable for the patient and for the surgeon. Previously, a study has shown that the volume measured with plastic cups differed little from that measured from mastectomy specimens. The aim of the present study was to test the reliability of breast volume measurements with plastic cups as a tool to measure breast volume in everyday clinical practice. The plastic cups were designed by the senior author (AR) and comprise 14 cups from 125 millilitres (ml) to 2000 ml. Six raters measured 12 breasts on the same day. The results show that there is a certain variation between different raters, and that a certain rater seems to consistently measure slightly lower or higher volumes than the other raters. The Intra Class Correlation (ICC) coefficient of average measures between raters is 0.89, that is, the agreement between different raters is high. According to the Bland-Altman plot, the overall assessment of the comparisons of measurements between the different raters shows that the direction of the mean differences is close to zero. The limits of agreements of the differences were within ±56 ml. The coefficient of variation (CV) between different raters was 14%. Breast volume measurement with plastic cups is an easily usable quick and cheap way to measure breast volume in everyday clinical practice. The measurements have an acceptable reliability.