Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With Variants.

Background And Objectives: Facioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: . The mechanism underlying this phenotypic divergence remains unclear. In this study, we characterize the neuromuscular phenotype of individuals with arhinia caused by variants and analyze their complex genetic and epigenetic criteria to assess their risk for FSHD2.

[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)].

The rare clinical picture of nasal agenesis is to be presented on the basis of a female newborn. Intrauterine growth restriction with polyhydramnios and midface hypoplasia were noted during pregnancy. Primary cesarean section at 38 + 4 weeks' gestation was done.

Temperatures in Pigs During 3 T MRI Temperatures, Heart Rates, and Breathing Rates of Pigs During RF Power Deposition in a 3 T (128 MHz) Body Coil.

Exposure to radiofrequency (RF) power deposition during magnetic resonance imaging (MRI) induces elevated body-tissue temperatures and may cause changes in heart and breathing rates, disturbing thermoregulation. Eleven temperature sensors were placed in muscle tissue and one sensor in the rectum (measured in 10 cm depth) of 20 free-breathing anesthetized pigs to verify temperature curves during RF exposure. Tissue temperatures and heart and breathing rates were measured before, during, and after RF exposure.

Cephalad dislocation of PICCs under different upper limb positions: influence of age, gender, BMI, number of lumens.

Purpose: To evaluate parameters that influence the amount of movement of peripherally inserted central catheter (PICC) tips regarding upper limb movement.

Methods: In a prospective 12-month observational study, 200 PICCs were implanted in 162 patients (mean age 56.8 ± 15.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism.

Analysis of the periimplant tissue of craniofacial implants by sulcus fluid flow rate (SFFR).

Statement Of Problem: The tissue surrounding craniofacial implants is prone to inflammation; however, no adequate instrument is currently available to measure this objectively.

Purpose: The purpose of this study was to describe the parameters influencing the sulcus fluid flow rate in the extraoral periimplant tissue environment.

Material And Methods: Thirty-four patients with 112 craniofacial implants participated.

Long term combination treatment with bevacizumab, pegylated liposomal doxorubicin and regional abdominal hyperthermia in platinum refractory ovarian cancer: a case report and review of the literature.

Background: Platinum resistance constitutes a therapeutic challenge in the treatment of ovarian cancer, with overall unsatisfactory response rates to standard chemotherapy and correspondingly low survival. Regional abdominal hyperthermia and bevacizumab are treatment options that have both shown the capacity to improve the results of standard chemotherapy in the platinum-resistant situation, when added to the treatment schedule.

Case Report: We report on a 29-year-old patient with primary platinum-refractory ovarian cancer, who was treated with a combination of pegylated liposomal doxorubicin, regional abdominal hyperthermia and bevacizumab in a four-week cycle over a long-term period of 38 months.

Percutaneous push-through gastrostomy by applying a CT-guided gastropexy.

Purpose: To evaluate the feasibility and complications of percutaneous push-through gastrostomy via a computed tomography (CT)--guided gastropexy.

Materials And Methods: From January 2005 to March 2008, 14 patients in whom an oropharyngeal passage with an endoscope was impossible received a gastrostomy using the push-through technique. To attach the stomach against the abdominal wall, a CT-guided gastropexy was performed in all patients before the gastrostomy.

Double-lumen central venous port catheters: simultaneous application for chemotherapy and parenteral nutrition in cancer patients.

Purpose: This study was designed to evaluate the clinical benefit of low-profile double-lumen port catheters in patients receiving simultaneous chemotherapy and parenteral nutrition (PN). Potential advantages, complications, and the durations of simultaneous and single use of the catheter were assessed.

Methods: At a university teaching hospital, 10 patients received a double-lumen port catheter (5 men, 5 women; mean age 61.

Regional abdominal hyperthermia combined with systemic chemotherapy for the treatment of patients with ovarian cancer relapse: Results of a pilot study.

Purpose: Due to the poor prognosis of patients with ovarian cancer relapse (OCR), newer strategies are warranted to improve the therapeutic index. We performed a prospective phase I/II-study of regional abdominal hyperthermia (RHT) combined with systemic chemotherapy in OCR patients in order to evaluate outcome, efficacy and tolerance.

Materials And Methods: OCR patients with an Eastern Cooperative Oncology Group status <2, without any thromboembolic disease or severe cardiovascular co-morbidities, and pre-treated with at least one systemic chemotherapy regimen due to epithelial ovarian cancer were enrolled into the present study.

A comparison of clinical outcomes with regular- and low-profile totally implanted central venous port systems.

The purpose of this study was to evaluate whether low-profile totally implanted central venous port systems can reduce the late complication of skin perforation. Forty patients (age, 57 +/- 13 years; 22 females, 18 males) were randomized for the implantation of a low-profile port system, and another 40 patients (age, 61 +/- 14 years; 24 females, 16 males) received a regular port system as control group. Indications for port catheter implantation were malignant disease requiring chemotherapy.

Amelanotic metastasis of melanoma mimicking ovarian cancer: a case report and review of the literature.

Ovarian manifestation of metastatic amelanotic melanoma is exceptionally rare and can lead to the clinical and even histological misdiagnosis of ovarian cancer. We report on a 35-year-old female patient who presented with bilateral adnexal masses, as well as massive ascites. She underwent laparascopy and multiple biopsies were taken.

Postimplantation analysis enables improvement of dose-volume histograms and reduction of toxicity for permanent seed implantation.

Purpose: To demonstrate how postimplantation analysis is useful for improving permanent seed implantation and reducing toxicity.

Patients And Methods: We evaluated 197 questionnaires completed by patients after permanent seed implantation (monotherapy between 1999 and 2003). For 70% of these patients, a computed tomography was available to perform postimplantation analysis.

[Thermal therapy of prostate cancer using magnetic nanoparticles].

A novel method of interstitial heating using magnetic nanoparticles and a direct injection technique has been evaluated in human cancers in recent clinical trials. In prostate cancer, this approach was investigated in two separate phase-I-studies, employing magnetic nanoparticle thermotherapy alone and in combination with permanent seed brachytherapy. The feasibility and good tolerability was shown in both trials, using the first prototype of a magnetic field applicator.

Simulation of different applicator positions for treatment of a presacral tumour.

Introduction: Proximally located presacral recurrences of rectal carcinomas are known to be difficult to heat due to the complex anatomy of the pelvis, which reflect, shield and diffract the power. This study is to clarify whether a change of position of the Sigma-Eye applicator in this region can improve the heating.

Material And Methods: Finite element (FE) planning calculations were made for a phantom model with a proximal presacral tumour using a fixed 100 MHz radiofrequency radiation.

Thermotherapy of prostate cancer using magnetic nanoparticles: feasibility, imaging, and three-dimensional temperature distribution.

Objectives: To investigate the feasibility of thermotherapy using biocompatible superparamagnetic nanoparticles in patients with locally recurrent prostate cancer and to evaluate an imaging-based approach for noninvasive calculations of the three-dimensional temperature distribution.

Methods: Ten patients with locally recurrent prostate cancer following primary therapy with curative intent were entered into a prospective phase 1 trial. The magnetic fluid was injected transperineally into the prostates according to a preplan.

Radiochemotherapy combined with regional pelvic hyperthermia induces high response and resectability rates in patients with nonresectable cervical cancer > or =FIGO IIB "bulky".

Purpose: To evaluate preoperative radiochemotherapy combined with regional pelvic hyperthermia in patients with nonresectable cervical cancer >/= International Federation of Gynecology and Obstetrics (FIGO) IIB "bulky" in a Phase II study.

Methods And Materials: Thirty-two patients with nonresectable FIGO IIB-IVA cervical cancer confined to the pelvis were treated with radiochemotherapy (5 x 1.8 Gy/wk, 45-50.

Thermal monitoring: invasive, minimal-invasive and non-invasive approaches.

Background: Thermal treatments need verification of effectiveness. Invasive intra-tumoural thermometry was established as a standard method several years ago. However, in deep heating, invasive techniques have disadvantages.

In vivo assessment of the tolerance dose of small liver volumes after single-fraction HDR irradiation.

Purpose: To prospectively assess a dose-response relationship for small volumes of liver parenchyma after single-fraction irradiation.

Methods And Materials: Twenty-five liver metastases were treated by computed tomography (CT)-guided interstitial brachytherapy. Magnetic resonance imaging was performed 1 day before and 3 days and 6, 12, and 24 weeks after therapy.

Liver malignancies: CT-guided interstitial brachytherapy in patients with unfavorable lesions for thermal ablation.

Purpose: To evaluate computed tomography (CT)-guided brachytherapy in patients with very large liver malignancies or with liver tumors located adjacent to the liver hilum.

Materials And Methods: In this prospective nonrandomized phase II trial, we treated 20 patients (19 liver metastases and one cholangiocarcinoma) with CT-guided high-dose-rate (HDR) brachytherapy using a (192) Iridium source. All patients demonstrated no functional liver degradation prior to irradiation.

[CT-Guided brachytherapy. A novel percutaneous technique for interstitial ablation of liver metastases].

Purpose: To assess safety and efficacy of CT-guided brachytherapy of liver malignancies.

Patients And Methods: 21 patients with 21 liver malignancies (19 metastases, two primary liver tumors) were treated with interstitial CT-guided brachytherapy applying a (192)Ir source. In all patients, the use of image-guided thermal tumor ablation such as by radiofrequency or laser-induced thermotherapy (LITT) was impeded either by tumor size > or = 5 cm in seven, adjacent portal or hepatic vein in ten, or adjacent bile duct bifurcation in four patients.