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 ± 15.2 years) by interventional radiologists into the basilic vein of the mid-aspect of the upper arm. Three PICC tip positions were documented with a chest x-ray: patient supine with an abducted (90°), an adducted arm, and in an upright position with an adducted arm. Multivariable analyses were performed, based on the three positions: body mass index (BMI), number of lumens, age, gender, side of the implantation, and brand. Results: Up to 88% of the PICCs dislocated in a mean of 19 mm cephalad when the patient was positioned from a supine in an upright position. The greatest influence upon dislocation was the position change from supine to upright. The side of the implanted PICC (left vs. right) had no influence. Conclusions: Cephalad dislocations of mean 19 mm regularly occur in the upright position induced by gravity. This needs to be taken in account and the PICC should be safely positioned one vertebra lower in the superior vena cava superior with a last confirmation of the PICC placement in an upright position.

Background and Objectives Facioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: SMCHD1. The mechanism underlying this phenotypic divergence remains unclear. In this study, we characterize the neuromuscular phenotype of individuals with arhinia caused by SMCHD1 variants and analyze their complex genetic and epigenetic criteria to assess their risk for FSHD2. Methods Eleven individuals with congenital nasal anomalies, including arhinia, nasal hypoplasia, or anosmia, underwent a neuromuscular examination, genetic testing, muscle ultrasound, and muscle MRI. Risk for FSHD2 was determined by combined genetic and epigenetic analysis of 4q35 haplotype, D4Z4 repeat length, and methylation profile. We also compared expression levels of pathogenic DUX4 mRNA in primary myoblasts or dermal fibroblasts (upon myogenic differentiation or epigenetic transdifferentiation, respectively) in these individuals vs those with confirmed FSHD2. Results Among the 11 individuals with rare, pathogenic, heterozygous missense variants in exons 3–11 of SMCHD1, only a subset (n = 3/11; 1 male, 2 female; age 25–51 years) met the strict genetic and epigenetic criteria for FSHD2 (D4Z4 repeat unit length <21 in cis with a 4qA haplotype and D4Z4 methylation <30%). None of the 3 individuals had typical clinical manifestations or muscle imaging findings consistent with FSHD2. However, the patients with arhinia meeting the permissive genetic and epigenetic criteria for FSHD2 displayed some DUX4 expression in dermal fibroblasts under the epigenetic de-repression by drug treatment and in the primary myoblasts undergoing myogenic differentiation. Discussion In this cross-sectional study, we identified patients with arhinia who meet the full genetic and epigenetic criteria for FSHD2 and display the molecular hallmark of FSHD—DUX4 de-repression and expression in vitro—but who do not manifest with the typical clinicopathologic phenotype of FSHD2. The distinct dichotomy between FSHD2 and arhinia phenotypes despite an otherwise poised DUX4 locus implies the presence of novel disease-modifying factors that seem to operate as a switch, resulting in one phenotype and not the other. Identification and further understanding of these disease-modifying factors will provide valuable insight with therapeutic implications for both diseases.

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. Pigs were placed into a 60‐cm diameter whole‐body resonator of a 3 T MRI system. Nineteen anesthetized pigs were divided into four RF exposure groups: sham (0 W/kg), low‐exposure (2.7 W/kg, mean exposure time 56 min), moderate‐exposure (4.8 W/kg, mean exposure time 31 min), and high‐exposure (4.4 W/kg, mean exposure time 61 min). One pig was exposed to a whole‐body specific absorption rate (wbSAR) of 11.4 W/kg (extreme‐exposure). Hotspot temperatures, measured by sensor 2, increased by mean 5.0 ± 0.9°C, min 3.9; max 6.3 (low), 7.0 ± 2.3°C, min 4.6; max 9.9 (moderate), and 9.2 ± 4.4°C, min 6.1, max 17.9 (high) compared with 0.3 ± 0.3°C in the sham‐exposure group (min 0.1, max 0.6). Four time‐temperature curves were identified: sinusoidal, parabolic, plateau, and linear. These curve shapes did not correlate with RF intensity, rectal temperature, breathing rate, or heart rate. In all pigs, rectal temperatures increased (2.1 ± 0.9°C) during and even after RF exposure, while hotspot temperatures decreased after exposure. When rectal temperature increased by 1°C, hotspot temperature increased up to 42.8°C within 37 min (low‐exposure) or up to 43.8°C within 24 min (high‐exposure). Global wbSAR did not correlate with maximum hotspot. Bioelectromagnetics. 2021;42:37–50. © 2020 The Authors. Bioelectromagnetics published by Wiley Periodicals LLC on behalf of Bioelectromagnetics Society

Ziel: Ein Vergleich unterschiedlicher MRT-Sequenzen nativ oder nach Applikation von Gd-BOPTA zur Verlaufskontrolle thermischer Tumorablationen mittels LITT. Material/Methode: Im Rahmen von dreimonatigen Verlaufskontrollen wurden 19 MRT-Untersuchungen von 19 Patienten mit einem Lokalrezidiv nach thermischer Ablation von Lebermetastasen verschiedener Karzinome mittels LITT eingeschlossen. In 15 Fällen handelte es sich um kolorektale Karzinome (78,9 %). Jeweils einmal wurden die Metastasen eines Zervix-, eines Bronchial-, eines Magenkarzinoms und eines Nierenzellkarzinoms im Verlauf betrachtet. Die Größe der Metastasen vor der Ablation betrug im Schnitt 38,5 mm in maximaler Ausdehnung (Min. = 25 mm, Max. = 58 mm). Das MRT-Protokoll umfasste: T2 UTSE FS, T1-w GRE nativ und T1-w GRE mit Gd-BOPTA in der Früh- (20 s p. i.) und Spätphase (> 120 min p. i.). Durch zwei unabhängige Radiologen wurden die Bildkontraste der Lokalrezidive und der Nekrosezonen im Vergleich zum gesunden Leberparenchym in einer Skala von - 10 bis + 10 beurteilt. Das Leberparenchym ergab in jeder Sequenz den Wert 0. Die Sicherung der Lokalrezidive erfolgte bei allen Patienten durch Verlaufskontrollen. Die statistische Auswertung erfolgte mittels Wilcoxon- und Kendall’s-W-Test. Ergebnisse: Die ermittelten Absolutwerte für die Kontrastdifferenzen zwischen Thermonekrosen und Lokalrezidiven ergaben für die gemeinsame Bewertung der beiden Radiologen in der T2-w UTSE FS-Sequenz einen Durchschnittswert von 10,95, für T1-w GRE nativ 6,58, für T1-w GRE-Gd-BOPTA in der Frühphase 4,05 und in der Spätphase 2,26. Die Überlegenheit der T2 UTSE-FS-Sequenz war signifikant (p < 0,05). Die Prüfung der Ergebnisse beider Radiologen ergab eine hohe Übereinstimmung für alle Vergleichswerte (p < 0,001). Schlussfolgerung: Für die Frühdetektion der Lokalrezidive nach thermischer Ablation eignet sich in erster Linie die T2-w UTSE-FS-Sequenz. Zur Detektion neuer Herde sollte der Einsatz leberspezifischer Kontrastmittel erwogen werden. Purpose: Comparison of various MR imaging techniques without and with the application of Gd-BOPTA for the follow-up of thermal tumor ablations by means of laser-induced therapy (LITT). Materials and Methods: Thermal tumor ablations were performed with LITT in 19 patients showing a local recurrence. The metastases were from colorectal carcinoma in 15 cases (78.9 %) and from cervix, bronchial, gastric and renal carcinoma respectively in one patient each. The size of the metastases before ablation was on average 38.5 mm (min = 25 mm, max = 58 mm). The MRI protocol consisted of T2 UTSE FS, T1 w GRE without and with Gd-BOPTA at an early (20 s post injection) and late stage (> 120 min post injection). Two independent radiologists evaluated image contrast of the local relapse and necrosis in comparison to the surrounding healthy liver parenchyma on a scale from - 10 to + 10. Liver parenchyma was in any sequence 0. Recurrences were confirmed with follow-up examinations in all patients. Statistical analysis was performed by means of Wilcoxon and Kendall’s W-test. Results: Both radiologists found absolute ratios for contrast differences between thermal necrosis and local recurrence, with an average of 10.95 for T2 w UTSE FS and of 6.58 for T1 w GRE without, and of 4.05 for T1 w GRE with Gd-BOPTA in the early and of 2.26 in the late stage. Superiority for UTSE FS was significant (p < 0.05). The statistical analysis showed a high agreement for both radiologists for all values (p < 0.001). Conclusion: For early detection of local recurrences after thermal ablation T2 w UTSE FS is most suitable. For the detection of new foci, the use of liver specific contrast media is advisable.

Background and Clinical Significance: Uterine arteriovenous malformation (AVM) is a rare but potentially life-threatening condition due to the risk of severe acute hemorrhage. Unlike AVMs in other anatomical locations, which are predominantly congenital, uterine AVMs are often acquired, typically developing after uterine procedures such as dilatation and curettage (D&C), cesarean section, or pregnancy-related events. Women commonly present with abnormal bleeding disorders. Case Presentation: We are presenting the case of a 41-year-old Caucasian woman with secondary amenorrhea three months after vacuum curettage in the 7th week of pregnancy. Based on her clinical history and the findings on transvaginal sonography (TVS), uterine AVM was highly suspected. Contrast-enhanced magnetic resonance imaging (MRI) confirmed the diagnosis. The patient underwent successful embolization of the left uterine artery. Follow-up examinations demonstrated complete resolution of the vascular malformation, and regular menstrual cycles resumed during her recovery. With the increasing frequency of uterine surgical interventions, the incidence of uterine AVMs is also expected to rise. The clinical impact is significant when fertility preservation and family planning are still ongoing. To the best of our knowledge, this is the first reported case in which amenorrhea is the primary presenting symptom of a uterine AVM. Conclusions: Given the high risk of life-threatening hemorrhage associated with undetected or incorrectly treated AVMs, their presence must always be carefully ruled out in case of bleeding disorders after pregnancy or uterine surgery. Accurate diagnosis prior to any further intrauterine interventions, such as curettage, is crucial to prevent severe complications and ensure appropriate management. In order to avoid life-threatening complications, the possibility of uterine AVM should be considered in the differential diagnosis even in the presence of amenorrhea. The proposed diagnosis and treatment algorithm for uterine AVMs can help avoid misdiagnosis.

Anhand eines weiblichen Neugeborenen soll das seltene Krankheitsbild der konnatalen Nasenagenesie vorgestellt werden. In der Schwangerschaft fielen eine intrauterine Wachstumsrestriktion mit Polyhydramnion und eine Mittelgesichtshypoplasie auf. Das Atemwegsmanagement nach primärer Sectio in der 38 + 4 SSW gelang mittels Schienung durch einen Güdel- bzw. im Verlauf Rachentubus ohne Zeichen einer respiratorischen Insuffizienz. Neben der vollständigen Nasenagenesie zeigten sich bei unauffälligen zerebralen Strukturen ein Hypertelorismus, ein gotischer Gaumen, ein beidseitiger Mikrophthalmus und Iriskolobom. Die Nahrungsaufnahme wurde mit einer orogastralen Sonde sichergestellt, durch Trinktraining und einen speziellen Schnuller konnten eine bessere Koordination und Trinkleistung erzielt werden. Der sich bei assoziierten Fehlbildungen ergebende Verdacht auf ein Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS) wurde humangenetisch durch den Nachweis einer heterozygoten de novo Mutation im SMCHD1-Gen, welches eine Schlüsselfunktion in der Embryogenese der menschlichen Nase spielt, bestätigt (c.1043A > G; pHis348Arg). Aus neonatologischer Sicht ist oftmals die initiale Kreißsaal-Versorgung eine Herausforderung: Patienten mit Nasenagenesie werden häufig postpartal intubiert und elektiv tracheotomiert. Bei fehlender respiratorischer Problematik und Nahrungsaufnahme mit perzentilengerechtem Wachstum besteht jedoch keine dringliche Indikation zur frühzeitigen plastisch-chirurgischen Versorgung, insbesondere da diese mit Gefahren wie Sepsis und Wachstumsstörungen im Mittelgesicht behaftet ist. 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. Airway management was achieved by splinting through a Mayo tube which was subsequently replaced by a pharyngeal endotracheal tube without signs of respiratory failure. In addition to a complete nasal agenesis, hypertelorism, a Gothic palate, bilateral microphthalmus, and iris coloboma were found. Ultrasound scans of cerebral structures were normal. An orogastric tube was placed, and drinking training and a special pacifier improved coordination and drinking performance. We suspected a case of Bosma arhinia microphthalmia syndrome (BAMS). The structural maintenance of chromosomes flexible hinge domain (SMCHD) containing 1 gene plays a key role in the embryogenesis of the human nose and is known for mutations in BAMS. A heterozygous de novo mutation in the SMCHD1 gene (c.1043A > G; pHis348Arg) was confirmed by molecular genetic analysis. Initial stabilization after birth is often a challenge in patients with nasal agenesis. They are often intubated immediately postpartum and electively tracheotomized. In the absence of respiratory problems and appropriate growth, however, there is no urgent indication for early plastic surgical treatment, given the inherent risks of sepsis and growth disorders in the midface. Publication Date: 30 March 2021 (online) © 2020. Thieme. All rights reserved. Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany