Genetic skeletal disorders of the fetus and infant: Pathologic and molecular findings in a series of 41 cases

BACKGROUND: Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias), dysostoses, and malformation syndromes with a skeletal component. Genetic skeletal disorders may be prenatally detected by ultrasonography or result in intrauterine or early postnatal death, constituting one difficult diagnostic field met by the pathologist who performs the perinatal autopsy. METHODS: In this retrospective study, we have gathered radiologic, physical, histopathologic, and molecular data regarding 41 cases of genetic skeletal disorders diagnosed among 1980 fetal and perinatal autopsies over a 10‐year period. RESULTS: Our series of cases were classified according to the 2006 Nosology and Classification of Genetic Skeletal Disorders. The overall frequency of genetic skeletal disorders was 1:48 autopsies. The FGFR3 group and osteogenesis imperfecta type 2 were the more frequently encountered disorders. The mean gestational age at autopsy was 21.9 weeks (range, 12–37 weeks). A final diagnosis was obtained in 95% of cases. Genetic skeletal disorders were detected by prenatal ultrasound in 90% of cases, with a correct typing of the disorder achieved in only 34%. Molecular analysis was confirmative in 5 cases. CONCLUSIONS: The central role of the perinatal pathologist in collaboration with specialized services is essential for the correct interpretation of the radiologic, physical, and histopathologic findings, to accurately classify specific types of genetic skeletal disorders and enable genetic counseling. Birth Defects Research (Part A), 2009. © 2009 Wiley‐Liss, Inc.     

Evaluation of a four-drug, three-antibiotic, nonbismuth-containing "concomitant" therapy as first-line Helicobacter pylori eradication regimen in Greece

Background: The eradication rates of Helicobacter pylori (H. pylori) with standard treatments are decreasing worldwide as in Greece. Studies with new antibiotic combinations are needed to find better methods of eradication. Therefore, the aim of this study was to evaluate efficacy and tolerability of a 10‐day, four‐drug, three‐antibiotic, nonbismuth–containing concomitant regimen. Materials and Methods: This is a prospective, open‐label, multicenter study that included 131 patients infected with H. pylori. All patients were diagnosed with peptic ulcer disease or nonulcer dyspepsia by endoscopy. H. pylori infection was established by at least two positive tests among rapid urease test, gastric histology, and ¹³C‐urea breath test. For 10 days, all patients received esomeprazole 40 mg, amoxycillin 1000 mg, clarithromycin 500 mg, and metronidazole 500 mg, all b.d. eradication was assessed with ¹³C urea breath test 8 weeks after the start of treatment. Intention‐to‐treat and per‐protocol eradication rates were determined. Results: One hundred and twenty‐seven of the 131 patients completed the study. At intention‐to‐treat analysis, the eradication rate was 91.6% (95% confidence interval (CI), 85.5–95.7%). For the per‐protocol analysis, the eradication rate was 94.5% (95% CI, 89–97.8%). Adverse events were noted in 42 of 131 (32.1%); drug compliance was excellent with 96.9% of the patients taking more than 90% of the prescribed medication. Conclusion: A 10‐day concomitant regimen appears to be an effective, safe, and well‐tolerated treatment option for first‐line H. pylori eradication in Greece.     

A giant rhinocerotoid (Mammalia, Perissodactyla) from the Late Oligocene of north-central Anatolia (Turkey)

A giant rhinocerotoid is described for the first time south of the Black Sea, in Turkey. The single specimen, a fragmentary radius referred to Paraceratherium sp., originates from conglomerates nearby at Gözükizilli, in the Çankiri–Çorum Tertiary basin. These layers correspond to the Lower member of the Kizilirmak Formation. The same locality (Gözükizilli-2) yields also the small rhinocerotid Protaceratherium sp., cf. P. albigense (Roman, 1912). Three other mammal localities (Gözükizilli-1, in the Lower Member of the formation, with several rodent species; Tepe 641 and Kizilirmak, in the Upper Member, with a diversified micro- and macro-mammal fauna) allow us to refer the Kizilirmak Formation as a whole to the Late Oligocene. All the observed taxa have strong Asian and/or European affinities, which precludes any geographical insulation for this part of Anatolia during the Late Oligocene.  © 2008 The Linnean Society of London, Zoological Journal of the Linnean Society, 2008, 152 , 581–592.     

Intracellular and extracellular labeling of neurons in fresh slice preparations combined with multiple tract tracing

We describe methods for studying axo-dendritic projections, one of the forms of neural connection involved in the complex circuits of the central nervous system, including brainstem auditory pathways. This form of neural connection is often difficult to visualize by conventional tract tracing techniques. Retrogradely identified cells were filled intracellularly with a mixture of fluorescent Lucifer yellow and nonfluorescent HRP in live slice preparations to reveal the detailed morphological features of these cells with special attention to the distal dendrite that may receive projections from suspected or known input axons. Extracellular or intracellular labeling of cells with axons that project to the distal dendrite of the identified cells was accomplished in the same live slice preparation. Using a live slice rather than a fixed slice allows accurate, visually controlled placement of anterograde tracer, which requires living axons for transport, into the source of input to the identified cells within the slice. Live slices also permit one to characterize the identified cells electrophysiologically. Intracellular labeling of cells in a potential source of local input to the identified cells also provides conclusive information concerning with connections of the cells involved.