Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype

We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.     

Interruption of pregnancy by cervical rivanol predilatation

Experience obtained in 1361 cases of first trimester pregnancy interruption with cervical Rivanol predilatation is reported. Rivanol-induced predilatation of the cervical canal prior to interruption was found to be an efficient procedure. The dilating effect of Rivanol could not be enhanced by i.m. administration of 5 IU oxytocin. After the interruption of more advanced pregnancies a higher degree of dilatation of the cervix was observed. The necessity of further dilatation prior to vacuum aspiration is, in the majority of cases, not higher than 2-2.5 H, which is insignificant on the softened cervix. The immediate complications of medical induction and interruption were infrequent and not severe. Thus, cervical predilatation with Rivanol prior to vacuum aspiration is a recommendable method of pregnancy interruption, worthy of widespread application.     

Akute hämodynamische Effekte

Zusammenfassung Akutstudien zeigten Mitte der 90iger Jahre bei schwerer Herzinsuffizienz und Linksschenkelblock, dass die links- bzw. biventrikuläre Stimulation einen Anstieg der Pulse Pressure, der Kontraktilität und einen Abfall des endsystolischen Volumens bewirken. Die Hämodynamik bei schmalem Kammerkomplex unter 150 ms kann sich dagegen durch Stimulation verschlechtern. In dieser Studie wurden Patienten mit Linksschenkelblock, schwerer Herzinsuffizienz und einer QRS-Breite über 150 ms rechtsventrikulär, biventrikulär und linksventrikulär mit verschiedenen AV-Delays im Katheterlabor stimuliert. Akut-Response war als 10% Pulse-Pressure-Anstieg definiert. 165 von 188 Patienten (88%) im Sinusrhythmus (47 Frauen, mittleres Alter 62,5±10 Jahre, Ejektionsfraktion 23±8%, NYHA-Stadium 3,1±0,3) waren Responder. 10% der 103 mit dilatativer Kardiomyopathie und 16,5% der 79 Patienten mit koronarer Herzkrankheit waren Non-Responder. Das interventrikuläre Delay war bei Respondern mit 114±29 ms gegenüber 91±29 ms bei Non-Respondern signifikant weiter. 29 von 36 Patienten (81%) mit 2 oder mehr posterolateralen Venen waren Akut-Responder. 10 Patienten (33%) waren nur in einer Vene Responder. 54 Patienten hatten atriolinksventrikulär einen höheren Pulse-Pressure-Anstieg im Mittel von 10,7±10,6%, 48 Patienten bei biventrikulärer Stimulation von 9,8±6,4%. Über ein Jahr verbesserte sich die Herzinsuffizienz hochsignifikant (<0,0001) von NYHA 3,1±0,4 auf 2,1±0,7, VO2- peak von 12,7±2,8 auf 15,9±3,6 ml/min/kg und der linksventrikuläre enddiastolische Durchmesser von 80,5±10,5 auf 73,3±13 mm. Die präoperative hämodynamische Testung identifiziert akute Non-Responder und bei den Respondern den besten Stimulationsmodus, den optimalen Stimulationsort und das beste atrioventrikuläre Delay. Im Langzeit-Follow- up erscheint die maßgeschneiderte kardiale Resynchronisation klinisch überlegen.     

Intracellular calcium cycling, early afterdepolarizations, and reentry in simulated long QT syndrome.

OBJECTIVES: The purpose of this study was to investigate interactions between early afterdepolarizations (EADs) and reentry in long QT (LQT) syndromes. BACKGROUND: EADs, a characteristic feature of congenital and acquired LQT syndromes, are classically bradycardia dependent. Mechanisms by which they promote tachyarrhythmias such as torsades de pointes and ventricular fibrillation are not fully understood. Recent evidence suggests that EADs also may occur at rapid heart rates as a sequela of spontaneous sarcoplasmic reticulum (SR) Ca(2+) release related to intracellular Ca(2+) overload. Here, we performed computer simulations to explore the arrhythmogenic consequences of this phenomenon. METHODS: We used a modified version of the Luo-Rudy dynamic model in one-dimensional and two-dimensional cardiac tissue with the time-dependent K(+) currents I(Kr) or I(Ks) reduced by 50% to simulate acquired and congenital LQT syndromes. RESULTS: (1) Spontaneous SR Ca(2+) release prolonged action potential duration but did not induce overt EADs unless K(+) current density was reduced to simulate acquired and congenital LQT syndromes. (2) In simulated LQT syndromes, EADs were capable of both terminating and reinitiating one-dimensional reentry. (3) A similar phenomenon in simulated 2D tissue led to reinitiation of spiral wave reentry that otherwise would have self-terminated. (4) Reentry reinitiation occurred only when the L-type Ca(2+) current and SR Ca(i) cycling were potentiated to simulate moderate sympathetic stimulation, consistent with the known arrhythmogenic effects of sympathetic activation (and protection by beta-blockers) in LQT syndromes. CONCLUSIONS: These computer simulations suggest that EADs related to spontaneous SR Ca(2+) release can enhance arrhythmogenesis in LQT syndromes by reinitiating reentry.     

Role of Pht Proteins in Attachment of Streptococcus pneumoniae to Respiratory Epithelial Cells

Pneumococcal adherence to mucosal surfaces is a critical step in nasopharyngeal colonization, but so far few pneumococcal adhesins involved in the interaction with host cells have been identified. PhtA, PhtB, PhtD, and PhtE are conserved pneumococcal surface proteins that have proven promising as vaccine candidates. One suggested virulence function of Pht proteins is to mediate adherence at the respiratory mucosa. In this study, we assessed the role of Pht proteins in pneumococcal binding to respiratory epithelial cells. Pneumococci were incubated with human nasopharyngeal epithelial cells (Detroit-562) and lung epithelial cells (A549 and NCI-H292), and the proportion of bound bacteria was measured by plating viable counts. Strains R36A (unencapsulated), D39 (serotype 2), 43 (serotype 3), 4-CDC (serotype 4), and 2737 (serotype 19F) with one or more of the four homologous Pht proteins deleted were compared with their wild-type counterparts. Also, the effect of anti-PhtD antibodies on the adherence of strain 2737 to the respiratory epithelial cells was studied. Our results suggest that Pht proteins play a role in pneumococcal adhesion to the respiratory epithelium. We also found that antibody to PhtD is able to inhibit bacterial attachment to the cells, suggesting that antibodies against PhtD present at mucosal surfaces might protect from pneumococcal attachment and subsequent colonization. However, the relative significance of Pht proteins to the ability of pneumococci to bind in vitro to epithelial cells depends on the genetic background and the capsular serotype of the strain.     

Prevalence of Linda Virus Neutralizing Antibodies in the Austrian Pig Population

A novel pestivirus species, termed Lateral-shaking Inducing Neuro-Degenerative Agent virus (LindaV), was discovered in a piglet-producing farm in Austria in 2015 related to severe congenital tremor cases. Since the initial outbreak LindaV has not been found anywhere else. In this study, we determined the seroprevalence of LindaV infections in the domestic pig population of Austria. A fluorophore labeled infectious cDNA clone of LindaV (mCherry-LindaV) was generated and used in serum virus neutralization (SVN) assays for the detection of LindaV specific neutralizing antibodies in porcine serum samples. In total, 637 sera from sows and gilts from five federal states of Austria, collected between the years 2015 and 2020, were analyzed. We identified a single serum showing a high neutralizing antibody titer, that originated from a farm (Farm S2) in the proximity of the initially affected farm. The analysis of 57 additional sera from Farm S2 revealed a wider spread of LindaV in this pig herd. Furthermore, a second LindaV strain originating from this farm could be isolated in cell culture and was further characterized at the genetic level. Possible transmission routes and virus reservoir hosts of this emerging porcine virus need to be addressed in future studies.     

New considerations in the design of clinical trials for amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis is a devastating neurodegenerative disease caused by loss of motor neurons. Its pathophysiology remains unknown, but progress has been made in understanding its genetic and biochemical basis. Clinical trialists are working to translate basic science successes into human trials with more efficiency, in the hope of finding successful treatments. In the future, new preclinical models, including patient-derived stem cells may augment transgenic animal models as preclinical tools. Biomarker discovery projects aim to identify markers of disease onset and progression for use in clinical trials. New trial designs are reducing study time, improving efficiency and helping to keep pace with the increasing rate of basic and translational discoveries. Ongoing trials with novel designs are paving the way for amyotrophic lateral sclerosis clinical research.     

Significance of surgical tumor reduction in the therapy of ovarian cancer

Authors report on their experiences concerning 333 ovarian cancer patients operated on at the Gynecological Department of the Medical University, Debrecen during the last 10 years. They describe the surgical technique applied summarizing in three points its goal: accurate staging, radical tumor debulking, map out residual disease. Characterising the studied population authors give the distribution of patients according to prognostic factors, and postoperative treatment tips. They analyse treatment results according to diameter of residual tumor based on three parameters--the grade of response, duration of remission and surviving. They found that each therapeutic parameter is basicly influenced by the diameter of residual tumor left behind. The best results can be achieved among patients with minimal residual disease. The extent of tumor debulking during the first laparotomy is decising prognosis fundamentally.