黑斑息肉综合征临床诊治进展

黑斑息肉综合征（Peutz-Jeghers syndrome,PJS）是一种以皮肤黏膜色素沉着斑、胃肠道多发息肉、家族遗传性为主要特点的常染色体显性遗传病,随着息肉体积增大,患者年龄增加,消化系统及生殖系统等恶性肿瘤发病率明显增加,主要致病基因为19号染色体短臂上的LKB1／STK11（丝氨酸／苏氨酸激酶）基因,是一种肿瘤易感综合征,临床应及早处理胃肠道息肉及密切随访观察,预防恶性肿瘤的发生及早期诊治,减少PJS带来的危害。     

Echocardiographic Findings in Marfan's Syndrome

Echocardiographic studies of 11 patients with Marfan''s syndrome showed that in all adult patients aortic root diameters were larger than 35 mm (normal range 24 to 35, mean 30±2 mm). Prolapse of the mitral valve was present in seven of 11 patients. There was no relationship between the degree of aortic root enlargement and the presence of prolapse. However, in five of seven patients with prolapse there were premature ventricular contractions recorded during the echocardiogram or on a separate electrocardiogram. In four patients without prolapse, no premature atrial or ventricular contractions were seen.     

Diagnostic Clinical and Laboratory Findings in Response to Predetermining Bacterial Pathogen: Data from the Meningitis Registry

Background

Childhood Meningitis continues to be an important cause of mortality in many countries. The search for rapid diagnosis of acute bacterial meningitis has lead to the further exploration of prognostic factors. This study was scheduled in an attempt to analyze various clinical symptoms as well as rapid laboratory results and provide an algorithm for the prediction of specific bacterial aetiology of childhood bacterial meningitis.

Methodology and Principal Findings

During the 32 year period, 2477 cases of probable bacterial meningitis (BM) were collected from the Meningitis Registry (MR). Analysis was performed on a total of 1331 confirmed bacterial meningitis cases of patients aged 1 month to 14 years. Data was analysed using EPI INFO (version 3.4.3-CDC-Atlanta) and SPSS (version 15.0 - Chicago) software. Statistically significant (p<0.05) variables were included in a conditional backward logistic regression model. A total of 838 (63.0%) attributed to Neisseria meningitidis, 252 (18.9%) to Haemophilus influenzae, 186 (14.0%) to Streptococcus pneumoniae and 55 (4.1%) due to other bacteria. For the diagnosis of Meningococcal Meningitis, the most significant group of diagnostic criteria identified included haemorrhagic rash (OR 22.36), absence of seizures (OR 2.51), headache (OR 1.83) and negative gram stain result (OR 1.55) with a Positive Predictive Value (PPV) of 96.4% (95%CI 87.7–99.6). For the diagnosis of Streptococcus pneumoniae, the most significant group of diagnostic criteria identified included absence of haemorrhagic rash (OR 13.62), positive gram stain (OR 2.10), coma (OR 3.11), seizures (OR 3.81) and peripheral WBC≥15000/µL (OR 2.19) with a PPV of 77.8% (95%CI 40.0–97.2). For the diagnosis of Haemophilus influenzae, the most significant group of diagnostic criteria included, absence of haemorrhagic rash (OR 13.61), age≥1year (OR 2.04), absence of headache (OR 3.01), CSF Glu<40 mg/dL (OR 3.62) and peripheral WBC<15000/µL (OR 1.74) with a PPV of 58.5% (95%CI 42.1–73.7).

Conclusions

The use of clinical and laboratory predictors for the assessment of the causative bacterial pathogen rather than just for predicting outcome of mortality seems to be a useful tool in the clinical management and specific treatment of BM. These findings should be further explored and studied.     

A rhinesuchid-like temnospondyl from the Permo-Triassic of Uruguay

A new temnospondyl species, Arachana nigra, from the Permo-Triassic Buena Vista Formation of Uruguay is described. The holotypic and only known specimen consists of an almost complete skull lacking most of the snout, the tabular horns and the posterolateral corners of the skull table. As with other specimens from the same unit, Arachana shows a transitional morphology. It shares several characters with rhinesuchids, such as the large size and the general shape of the skull, orbits positioned slightly posterior to the skull roof mid-length, a coarsely pitted dermal ornamentation lacking pustules, and a smoothly convex cheek contour. The palatal ramus of the pterygoid suturing with the vomer, and excluding the palatine and ectopterygoid from the margin of the interpterygoid vacuity, and the presence of a small basioccipital, visible in both occipital and ventral view, also resemble the conditions found in rhinesuchids and other basal temnospondyls. Other characters present in Arachana, however, are commonly found in lydekkerinids, but are absent in almost all rhinesuchids: supratemporal excluded from otic notch; supraorbital and infraorbital sensory sulci encroaching the lacrimal, although lacking a step-like lacrimal flexure; otic notch not deeply incised; post-temporal fenestra large and rounded; occipital condyles well-separated from each other; palatine tooth row behind the palatine tusk reduced; pterygoid corpus slightly ornamented; and presence of an interorbital depression. This combination of primitive and derived characters is consistently present in most components of the Buena Vista fauna, which could thus be transitional between typical Permian and Triassic tetrapod communities found elsewhere. The location of the PTB in the Uruguayan sequence is controversial, mainly due to the lack of clear faunal correlations with other well-known sequences, such as those of southern Africa and Russia. Moreover, the mosaic-like character combinations in most of the recorded tetrapods ally them to both Triassic and Paleozoic groups, and this has complicated even more the possibility of age assignment. Transitional faunas associated with the PTB, such as the Russian Uppermost Permian faunas, could be equivalent to the unique Colonia Orozco fauna. If true, this scenario will substantially change estimates about survivorship rates, suggesting a speciation rate increase in temnospondyls after the Permian-Triassic event. Based on taxonomic, phylogenetic, and geochronologic data, the Buena Vista fauna allows us to quantify faunal turnover across the PTB and in the aftermath of the end Permian extinction event.     

Immediate and one-year outcome of patients presenting with Acute Coronary Syndrome complicated by stroke: Findings from the 2nd Gulf Registry of Acute Coronary Events (Gulf RACE-2)

ABSTRACT: BACKGROUND: Stroke is a potential complication of acute coronary syndrome (ACS). The aim of this study was to identify the prevalence, risk factors predisposing to stroke, in-hospital and 1-year mortality among patients presenting with ACS in the Middle East. METHODS: For a period of 9 months in 2008 to 2009, 7,930 consecutive ACS patients were enrolled from 65 hospitals in 6 Middle East countries. RESULTS: The prevalence of in-hospital stroke following ACS was 0.70%. Most cases were ST segment elevation MI-related (STEMI) and ischemic stroke in nature. Patients with in-hospital stroke were 5 years older than patients without stroke and were more likely to have hypertension (66% vs. 47.6%, P = 0.001). There were no differences between the two groups in regards to gender, other cardiovascular risk factors, or prior cardiovascular disease. Patients with stroke were more likely to present with atypical symptoms, advanced Killip class and less likely to be treated with evidence-based therapies. Independent predictors of stroke were hypertension, advanced killip class, ACS type --STEMI and cardiogenic shock. Stroke was associated with increased risk of in-hospital (39.3% vs. 4.3%) and one-year mortality (52% vs. 12.3%). CONCLUSION: There is low incidence of in-hospital stroke in Middle-Eastern patients presenting with ACS but with very high in-hospital and one-year mortality rates. Stroke patients were less likely to be appropriately treated with evidence-based therapy. Future work should be focused on reducing the risk and improving the outcome of this devastating complication.     

Biogeography and Breeding in Gymnotiformes from Uruguay

This study was carried out in Uruguay (30–35°S), South America, with two complementary approaches. First, an extensive exploration of Uruguayan freshwaters allowed us to assess the distribution of the two major species of Gymnotiformes (out of 4) across sites. Gymnotus carapo was uniformly distributed in Uruguayan territory, whereas Brachyhypopomus pinnicaudatus was observed in the northern and eastern part of the country. There was a highly significant negative correlation between the relative abundance of Brachyhypopomus pinnicaudatus and pH and water conductivity. Moreover, these environmental factors are significant contributors to its spatial differences in relative abundance. Second, temperature, conductivity, photoperiod, and the structure of a Brachyhypopomus pinnicaudatus population were analyzed across seasons in a small lake over a two-year period. Water temperature and photoperiod exhibited important seasonal changes, whereas water conductivity remained low and relatively constant. The presence of sexually mature males, females, and the sudden increase of juveniles indicated the occurrence of the breeding season in November, December, and January, coinciding with high mean water temperatures and extreme photoperiod. These results agree with previous data that support the hypothesis of temperature as an important environmental factor for the onset of breeding in Gymnotiformes from the temperate zone.     

Mortality Trends in Women and Men Presenting with Acute Coronary Syndrome: Insights from a 20-Year Registry

Background

Coronary artery disease (CAD) is the leading cause of mortality worldwide. The present study evaluated the impact of gender in patients hospitalized with acute coronary syndromes (ACS) over a 20-year period in Qatar.

Methods

Data were collected retrospectively from the registry of the department of cardiology for all patients admitted with ACS during the study period (1991–2010) and were analyzed according to gender.

Results

Among 16,736 patients who were admitted with ACS, 14262 (85%) were men and 2474 (15%) were women. Cardiovascular risk factors were more prevalent among women in comparison to men. On admission, women presented mainly with non-ST-elevation ACS and were more likely to be undertreated with β-blockers (BB), antiplatelet agents and reperfusion therapy in comparison to men. However, from 1999 through 2010, the use of aspirin, angiotensin-converting enzyme inhibitors and BB increased from 66% to 79%, 27% to 41% and 17% to 49%, respectively in women. In the same period, relative risk reduction for mortality was 64% in women and 51% in men. Across the 20-year period, the mortality rate decreased from 27% to 7% among the Middle Eastern Arab women. Multivariate logistic regression analysis showed that female gender was independent predictor of in-hospital mortality (odd ratio 1.51, 95% CI 1.27–1.79).

Conclusions

Women presenting with ACS are high-risk population and their in-hospital mortality remains higher for all age groups in comparison to men. Although, substantial improvement in the hospital outcome has been observed, guidelines adherence and improvement in the hospital care have not yet been optimized.     

Length–weight relationships of eight fish species from the lower section of the Uruguay River (Río Negro, Uruguay)

This study reports length–weight relationships for Apareiodon affinis , Leporinus obtusidens , Cynopotamus argenteus , Loricariichthys melanocheilus , Parapimelodus valenciennis , Iheringichthys labrosus , Rhinodoras dorbignyi and Pachyurus bonariensis . Specimens were collected between 2006 and 2007 from the lower section of the Uruguay River. The study represents the first reference on weight–length relationships for three species and also provides the new maximum size for three species.     

A Collection of Ticks (Ixodidae) from Wild Birds in Uruguay

Thirty nine wild birds from seven families (Alcedinidae, Emberizidae, Furnariidae, Parulidae, Trochilidae, Turdidae and Tyrannidae) were caught from 4 to 7 of February, 2004 at Rincón da Vassoura (31°15′ S 56°03′ W) Department of Tacuarembó, Uruguay. Ninety one nymphs and forty one larvae of Ixodidae were recovered from them. The majority of ticks were conventionally identified but 16S mitochondrial rDNA sequences were obtained for larvae and nymphs of Amblyomma with uncertain specific status to be compared with sequences of species from this genus. The 16S rDNA of Haemaphysalis juxtakochi Cooley was also obtained. Most ticks, 1 nymph of Amblyomma longirostre (Koch), 5 larvae of Amblyomma aureolatum (Pallas) and 3 nymphs of Amblyomma spp., 10 nymphs and 71 larvae of H. juxtakochi, 23 nymphs and 12 larvae of Ixodes pararicinus Keirans and Clifford, were found on the 5 Turdus albicollis Vieillot and 6 Turdus rufiventris Vieillot (Turdidae) caught. One nymph of A. longirostre and 2 nymphs of I. pararicinus were collected from the only Syndactyla rufosuperciliata (Lafresnaye) (Furnariidae) captured; 1 larva of I. pararicinus was collected on one of two Basileuterus leucoblepharus (Vieillot) (Parulidae) trapped and 1 nymph of A. longirostre was found on one of nine Elaenia parvirostris Pelzeln (Tyrannidae) captured. All these findings constitute new host records with the exception of I. pararicinus on S. rufosuperciliata, and stress the importance of Turdus as hosts for I. pararicinus, H. juxtakochi and A. aureolatum. Nymphs of H. juxtakochi and Amblyomma spp. were also found on man and vegetation.     

A new species, Herbertia crosae (Iridaceae), from Uruguay

Herbertia crosae (Iridaceae) is described from the stony grasslands of northwestern Uruguay. The new species resemblesHerbertia lahue but can be easily distinguished by the narrower leaves, slender habit, the smaller pale lilac flowers, the presence of yellow spots at the base of the tepals, the red, adpressed hairs along the filament column, the presence of filaments free at the apex, the channeled style arm, the recurved secondary divisions of the style arm, and the smaller fruits. A key to the species of the genus is provided in which five species are now recognized.     

Findings from a Study of the Behavior of the Tungus Child

Our purpose in studying the Tungus child was to analyze, to the extent possible, the personality characteristics of the Tungus child and to determine the most expedient way, i.e., the most expedient methods, for studying this topic so as to arrive at more broad conclusions concerning methods for studying a child growing up in more primitive cultural conditions than our own.

With these ends in mind, we used both a method of observation and a method of verbal survey, plus some experiments.

The verbal questionnaire method was used mainly to shed light on three subjects: the child's outlook, his powers of observation, and his general ideological orientations. We translated the questionnaires beforehand into the Tungus language, or else translated them on site with the aid of a translator; in some cases they were accompanied by presentation of pictures.