Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.

Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Onset Developmental and Epileptic Encephalopathy (KCNQ2-DEE). Comorbidities associated with this end of the spectrum have been seldomly described and their impact on the life of patients and their families is yet to be investigated. Collaborating with caregivers from different European family associations, we have developed a questionnaire aimed at investigating the onset and frequency of epileptic seizures, anti-seizure medications (ASM), hospitalizations, stages of development, and comorbidities. Responses from 80 patients, 40 males, from 14 countries have been collected. Median age 7.6 years (4 months - 43.6 years). Of 76 epileptic patients (93.6%), 55.3% were seizure-free with a mean age at last seizure of 26.7 months. Among patients with active epilepsy, those older have a lower frequency of seizures (p > 0.05). We were able to identify three different clusters of varying severity (Mild, Severe, Profound), based on neurodevelopmental features and symptoms, excluding epilepsy. Patients in a higher severity cluster had a higher mean number of comorbidities, which had a higher impact on families. Notably, patients in different clusters presented different epilepsy onset and courses. This study constitutes the most extensive data collection of patients with KCNQ2-DEE, with a focus on comorbidities in a wide age group. The participation of caregivers helps to define the impact of the disease on the lives of patients and families and can help identify new primary and secondary outcomes beyond seizures in future studies.

[Objective Criteria in the Medicinal Therapy for Type II Diabetes: An Analysis of the Patients' Perspective with Analytic Hierarchy Process and Best-Worst Scaling]. / Zielkriterien der medikamentösen Therapie des Diabetes Typ II: Eine Analyse der Patientenperspektive mit Analytic Hierarchy Process und Best-Worst Scaling.

BACKGROUND: The patient's perspective with regard to decision criteria of alternative treatment options has hardly been analysed. The objective of any intervention in health-care is to increase the patient's benefit. OBJECTIVE: This study aimed to analyse the patient-relevant decision criteria in the medicinal therapy of type II diabetes. The characteristics of a drug therapy that are relevant for the choice of the patients should be revealed. METHOD: An explorative qualitative study (N=15) in combination with a quantitative survey (in total N=388) using Analytic Hierarchy Process and Best-Worst Scaling aimed at the determination of the importance of patient-relevant decision criteria. RESULTS: The quantitative AHP- and BWS survey resulted in a clear dominance of the attribute "HbA1c level" and its optimal settings, for both with oral anti-diabetics treated patients (OAD) and insulin-treated patients. In the group of the OAD patients both methods independently showed the same ranking of the following 3 ranks: "delay of insulin therapy" (rank 2), "occurrence of hypoglycaemia" (rank 3) and "weight changes" (rank 4). For insulin patients "the occurrence of hypoglycaemia" follows in the AHP on the second rank and in the BWS on the 3(rd) rank. Compared to OAD patients, the relevance of the target criterion "weight changes" decreases in the group of the insulin patients in the AHP on the last rank (rank 7) and in the BWS on the second last rank (rank 6). CONCLUSION: For the first time the methods of AHP and BWS were combined to assess how patients weight between different characteristics of the treatment in type II diabetes and which influence those criteria of therapy have on the patient's benefit. Both patient groups show differences in the horizon of experience and thus in the ranking of the decision criteria.

[Characteristics of integrated care programmes and their impact on patient benefit: a discrete-choice experiment for integrated care networks]. / Eigenschaften von integrierten Versorgungs-programmen und deren Einfluss auf den Patientennutzen: Ein Discrete-Choice Experiment für Versorgungsnetzwerke.

PURPOSE: Innovative care models shall reduce the frictional losses in health-care. The successful implementation of care networks requires the acceptance by the health care providers, by the patients and citizens as well as by the payers. The consideration of preferences is an essential factor for success. The aim of this study is to analyse patient preferences. METHODS: With the help of Discrete-Choice experiment 21 patient-relevant attributes of innovative healthcare programmes were examined. On the basis of a balanced overlapping design (sawtooth) a total of 140 choice sets with the highest possible D efficiency was generated. The 21 attributes were divided into 4 thematic priorities for analysis. The cost attribute was integrated as a uniform comparator. The evaluation was done by a random effects logit estimation (STATA). RESULTS: The representative samples (N=1 322) revealed that in all 4 DCE blocks the attribute "additional costs" had the strongest influence on the patients choice (1: coeff.; 1.047; 2: coeff.: 1.105; 3.: coeff.: 0.956; 4.: coeff.: 0.954). This was followed by "medical apparatus and facilities", "waiting time for an appointment", "professional experience", "travelling time to treatment site", and "exchange of clinical information". "Transfer management" and "consideration of individual circumstances" for example, had a small influence on patient choice. CONCLUSION: In order to increase the acceptance of innovative health-care programmes preferences must be known and integrated into the design of the services. The present study has attempted to depict the patients' perspectives towards the new care systems. The individual selection decisions were not, as would be expected, influenced by the innovative approaches such as case management or shared decision making but rather by the quality of the infrastructure, the waiting times and professional experience.

[Long-pulsed frequency-doubled neodymium:YAG laser in treatment of superficial varicose veins. Initial clinical experiences]. / Der langgepulste frequenzverdoppelte Neodymium: YAG-Laser in der Behandlung von Besenreisern. Erste klinische Erfahrungen.

Many different therapeutic approaches are employed to treat small vessels on the leg. In recent years a variety of lasers (argon, Neodymium: YAG and dye lasers) have been used as well as sclerotherapy, cryosurgery and electrosurgery. None of these lasers are entirely satisfactory, and there are a number of side effects. Because of its special physical characteristics, the newly developed long-pulsed frequency-doubled neodymium: YAG laser has clear advantages in the treatment of vascular lesions compared to other laser systems. These include: no vessel rupture compared to dye laser, no epidermal lesions compared to argon laser. In clinical tests it shows a high rate of effectiveness with minimal side effects.

Subfascial endoscopic perforator surgery with tumescent local anesthesia.

BACKGROUND: Subfascial endoscopic perforator surgery (SEPS) has become an established procedure. OBJECTIVE: To evaluate SEPS with tumescent local anesthesia (TLA) using an single-port device originally designed for that purpose. METHODS: Patients selected for SEPS received subcutaneous infiltration of TLA into the medial aspect of the calf 20 minutes before surgery. Bipolar coagulation and dissection were used to treat incompetent perforators. RESULTS: Fifty-one patients with 67 legs of CEAP stages C3-C6 underwent SEPS with TLA. In 40 patients or 53 legs (79.1%) TLA alone allowed successful completion of the SEPS procedure. Five patients with 7 legs (10.4%) required additional intravenous analgesics during surgery. In 4 patients or 4 legs (6.0%) with marked dermatoliposclerosis, pain control with TLA was so inadequate that SEPS had to be stopped. CONCLUSION: SEPS with TLA is feasible in patients with CEAP stage C3-C6. However, patients with pronounced dermatoliposclerosis are likely to need more invasive analgesic measures.

Endovenous treatment of the greater saphenous vein with a 940-nm diode laser: thrombotic occlusion after endoluminal thermal damage by laser-generated steam bubbles.

PURPOSE: Despite a rapid spread of the technique, very little is known about the laser-tissue interaction in endovenous laser treatment (EVLT). We evaluated EVLT of the incompetent greater saphenous vein (GSV) for efficacy, treatment-related adverse effects, and putative mechanisms of action. METHODS: Twenty-six patients with 31 limbs of clinical stages C(2-6), E(P), A(S,P), P(R) with incompetent GSV proven by means of duplex scanning were selected for EVLT in an outpatient setting. A 600-microm fiber was entered into the GSV via an 18-gauge needle below the knee and proceeded to the saphenofemoral junction (SFJ). After infiltration of tumescent local anesthesia, multiple laser pulses of 15 J energy and a wavelength of 940 nm were administered along the vein in a standardized fashion. D-dimers were determined in peripheral blood samples 30 minutes after completion of EVLT in 16 patients and on postoperative day 1 in 20 patients. One GSV that was surgically removed after EVLT was examined by means of histopathology. Additionally, an experimental in vitro set-up was constructed as a means of investigating the mechanism of laser action within a blood-filled tube. RESULTS: A median of 80 laser pulses (range, 22-116 laser pulses) were applied along the treated veins. On days 1, 7, and 28, all limbs except one (97%) showed a thrombotically occluded GSV. In one patient, the vessel showed incomplete occlusion. The distance of the proximal end of the thrombus to the SFJ was a median 1.1 cm (range, 0.2-5.9 cm) in the remaining patients. Adverse effects in all 26 patients were ecchymoses and palpable induration along the thrombotically occluded GSV that lasted for 2 to 3 weeks. In two limbs (6%), thrombophlebitis of a varicose tributary required oral treatment with diclofenac. D-dimers in peripheral blood were tested with normal results in 14 of 16 patients 30 minutes after completion of the procedure and elevated results in 7 of 20 patients at day 1 after EVLT. However, an increase of D-dimers from day 0 to day 1 was observed in 15 of the 16 patients undergoing tests 30 minutes after EVLT and on day 1. The 940-nm laser was demonstrated by means of in vitro experiments and the histopathological examination of one explanted GSV to act by means of indirect heat damage of the inner vein wall. CONCLUSION: EVLT of the GSV with a 940-nm diode laser is effective in inducing thrombotic vessel occlusion and is associated with only minor adverse effects. Laser-induced indirect local heat injury of the inner vein wall by steam bubbles originating from boiling blood is proposed as the pathophysiological mechanism of action of EVLT.