İlk trimester doppler ultrasonografinin kromozomal anomaliler ve gebelik prognozunu tahmin etmedeki etkinliği

Amaç: 11-13+6 gebelik haftalarında yapılan Doppler ultrasonografik muayene bulgularının, fetal kromozomal anomaliler, gebelik-doğum prognozu ve yeni doğan yoğun bakım ihtiyacını tahmin etmedeki etkinliğinin araştırılması.Gereç ve Yöntem: Çalışma Mart 2005 -Mart 2006 tarihleri arasında, BEÜ Kadın Doğum gebe polikliniğine başvuran sağlıklı gebeler ile yapılmıştır. 11-13+6 haftalık, fetal kalp aktivitesi pozitif, tekil gebeliği mevcut olan 130 gebe çalışmaya alınmıştır. Yapılan ultrasonografik sırasında fetüsün değerlendirilmesi, fetal baş-popo mesafesi, fetal ense saydamlığı, servikal uzunluk ve uterin - umbilikal arter Doppler ölçümleri yapılmıştır. Hastaların tamamı doğuma kadar takip edilerek, gebelik, doğum sonucu ve yeni doğan yoğun bakım ihtiyacı belirlenmiştir. İstatistikler SPSS 19 programında, Mann-Whitney U ve T test kullanılarak yapılmıştır.Bulgular: 130 gebenin 117’si %90 miad doğum yaptı, 9’unun %6,9 37 hafta altı doğum yaptığı tespit edildi. 126 hastanın 49’nun doğumu normal vajinal yoldan, 77’sininki sezaryen ile gerçekleşmiştir. Yapılan izlem sonucu, 4 gebelik anormal olarak seyretti. Artmış fetal ense saydamlığı nedeniyle amniyosentez yapıldı. Sonucunda da 3 fetüste trizomi 21, 1 fetüste trizomi 18 saptandı ve terminasyon yapılmıştır. Amniyosentez sonucu fetal kromozomal anomali saptanan fetüslerin umbilikal arter Pulsalite İndeks PI ortalaması 3,00±0,62 olarak hesaplandı. Diğer 126 fetüsün umbilikal arter PI ortalamaları 2,55±0,83 idi. Bu iki grubun umbilikal arter PI ortalamaları arasındaki farkın anlamlı olduğu saptandı p: 0.026 .Sonuç: Umbilikal akımının Doppler çalışmaları, fetoplasental dolasımın perfüzyonu hakkında, indirek fakat güvenilir bilgi sağlar ve gebeliğin ilk yarısında da faydalıdır. Bu çalışma sonucunda elde edilen bulgular umbilikal arter PI’ nin fetal kromozomal anomalileri taramada NT ile kombine edildiğinde 11-13+6 haftada yapılacak tarama sırasında yeni bir ek kriter olarak kullanılabileceğini düşündürmektedi

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

Universality of dissipative self-assembly from quantum dots to human cells

An important goal of self-assembly research is to develop a general methodology applicable to almost any material, from the smallest to the largest scales, whereby qualitatively identical results are obtained independently of initial conditions, size, shape and function of the constituents. Here, we introduce a dissipative self-assembly methodology demonstrated on a diverse spectrum of materials, from simple, passive, identical quantum dots (a few hundred atoms) that experience extreme Brownian motion, to complex, active, non-identical human cells (similar to 10(17) atoms) with sophisticated internal dynamics. Autocatalytic growth curves of the self-assembled aggregates are shown to scale identically, and interface fluctuations of growing aggregates obey the universal Tracy-Widom law. Example applications for nanoscience and biotechnology are further provided

Universality of dissipative self-assembly from quantum dots to human cells

An important goal of self-assembly research is to develop a general methodology applicable to almost any material, from the smallest to the largest scales, whereby qualitatively identical results are obtained independently of initial conditions, size, shape and function of the constituents. Here, we introduce a dissipative self-assembly methodology demonstrated on a diverse spectrum of materials, from simple, passive, identical quantum dots (a few hundred atoms) that experience extreme Brownian motion, to complex, active, non-identical human cells (~10 atoms) with sophisticated internal dynamics. Autocatalytic growth curves of the self-assembled aggregates are shown to scale identically, and interface fluctuations of growing aggregates obey the universal Tracy–Widom law. Example applications for nanoscience and biotechnology are further provided.Accepted versio