A Chinese adolescent girl with Fechtner-like syndrome

We describe a 15-y-old girl with Fechtner-like syndrome, who is the first Chinese reported to have this rare syndrome. She presented with left homonymous hemianopia and neuroimaging revealed haemorrhage in both parietal and occipital lobes. Peripheral blood smear showed macrothrombocytopenia and intracytoplasmic inclusion bodies inside leucocytes. Thrombocytopenia and proteinuria responded to intravenous immunoglobulin and pulsed methylprednisolone. This case illustrates that life-threatening haemorrhage can occur in patients with Fechtner syndrome. Although there was no effective treatment reported in the literature, high dose steroid and immunoglobulin seemed to be useful in our patient. Our patient also had nephritic-nephrotic syndrome with renal insufficiency, which is unusual in adolescent female patients.     

SUICIDE ATTEMPT DUE TO METOCLOPRAMIDE-INDUCED AKATHISIA

Akathisia as a side-effect of metoclopramide has received increasing attention in consultation-liaison psychiatry in recent years. A case of metoclopramide-induced akathisia resulting in a suicide attempt is reported in order to highlight the suffering of such patients and the factors that lead to misdiagnosis.     

Predictive value of normal sperm morphology: a structured literature review

The aim of the study was to conduct a structured review of theliterature published on the use of normal sperm morphology,as an indicator of male fertility potential in the in-vitrofertilization (IVF) situation, and to establish the universalpredictive value of this semen parameter. Published literaturein which normal sperm morphology was used to predict fertilizationand pregnancy, during the period 1978-1996, was reviewed. Atotal of 216 articles were identified by the sourcing methodology,but only 49 provided data that could be tabulated and analysed.Of these, only 18 provided sufficient data for statistical analysis.Fifteen studies used the strict criteria to evaluate sperm morphology,two used World Health Organization (WHO) guidelines and oneused both the strict criteria and the WHO guidelines. All thestudies (n=10) using the 5 and 14% normal sperm morphology thresholds(strict criteria) produced positive predictive values for IVFsuccess. In the prediction of pregnancy, 82% (9/11) and 75%(6/8) of the studies produced positive predictive values whenusing the 5% and 14% thresholds respectively. Aggregating thedata produced around the 5% normal sperm morphology threshold(strict criteria), the overall fertilization rates were 59.3%(1979/3337; per oocyte) for the 4% group and 77.6% (10345/13327;per oocyte) for the >4% group, and the overall pregnancyrates were 15.2% (60/395; per cycle) and 26.0% (355/1368; percycle) respectively. The no-transfer rates across the 5% thresholdwere 24.0% (86/359; per cycle) in the 4% group compared to 7.4%(80/1088; per cycle) in the >4% group. The inclusion of anaccurately evaluated normal sperm morphology count as an integralpart of the standard semen analysis makes this analysis stillthe most cost-effective means of evaluating the male factor.     

Comparing sulindac with indomethacin for closure of ductus arteriosus in preterm infants

Objectives: A prospective study comparing the efficiacy and side-effects of oral sulindac with intravenous indomethacin in clinically stable preterm infants (<1750 g) requiring non-invasive closure of haemodynamically significant patent ductus arteriosus.
Methodology: As maturity and birthweight are the two major determinants of ductal closure, infants were matched as closely as possible for these parameters. An eligible patient was first assigned to the sulindac group and a subsequent patient with similar gestational age (± 1 week) and birthweight (±100 g) to the previously recruited infant would automatically receive indomethacin. A total of eight infants were enrolled in each group.
Results: The ductus arteriosus was successfully closed in all eight infants receiving indomethacin, and in seven of eight infants receiving sulindac. No significant differences were found with regards to the ductal size between the two groups at diagnosis or on each of the consecutive days of treatment ( P >0.25). More renal adverse effects were encountered in the indomethacin group. Significant differences in changes from baseline value for urine output, plasma sodium, urea and creatinine concentrations were noted at 24, 48 and 72 h after commencement of treatment between the two groups ( P <0.05). All the parameters returned to normal or pre-treatment levels 48 h after stopping therapy. Unexpectedly, severe gastrointestinal complications were encountered in the sulindac group.
Conclusions: Sulindac is capable of promoting ductal constriction in clinically stable preterm infants without compromising the renal function. The spectrum of gastrointestinal complications observed in sulindac treated infants were similar to those described for indomethacin. The use of sulindac for ductal closure in the preterm infant should remain experimental.     

Erythromycin treatment for gastrointestinal dysmotility in preterm infants

To report our clinical experience on the use of oral erythromycin for the treatment of severe gastrointestinal dysmotility in preterm infants.

Methodology:

A case series study of seven preterm infants (six were very low birthweight) with severe intestinal dysmotility in a tertiary neonatal centre.

Results:

All responded favourably without adverse effects and tolerated full enteral feeding within 1–2 weeks of the commencement of the drug.

Conclusions:

As prolonged total parenteral nutrition carries significant risk of complications, this therapy could be considered in selected preterm infants who fail to establish enteral feeding after an extended period, and in whom an anatomically obstructive lesion of the gastrointestinal tract has been excluded. Meanwhile, we would caution against the widespread implementation of this therapeutic approach until formal evaluation by randomized controlled trials have established the exact role of erythromycin, or its analogues, in the treatment of intestinal dysmotility in preterm infants.     

脊髓损伤(SCI)后呼吸运动功能的恢复

 高颈段脊髓损伤(spinal cord injury,SCI)往往导致膈肌麻痹,了解如何恢复SCI患者膈神经的节律活动至关重要。控制膈运动神经元(phrenic motor neuron,PhMn)的兴奋性前运动神经元主要起源于同侧延髓,因此,当C2脊髓半离断(spinal cord hemisection,SH)后,损伤侧的下行冲动中断,同侧膈神经的节律消失。随后,潜在的对侧下行冲动逐渐增强(神经可塑性),使PhMn的节律性活动恢复。众多证据表明神经营养因子(如脑源性神经营养因子,brain derived neurotrophic factor, BDNF)通过原肌球蛋白相关激酶受体(如TrkB)在神经可塑性中发挥重要作用。我们的实验结果表明,在鞘膜内注射BDNF能促进PhMn节律性的恢复,而注射TrkB-Fc(一种可抑制细胞外BDNF的融合蛋白)则延迟恢复。应用腺病毒载体(adeno-associated viral vector,AVV)靶向诱导PhMn中TrkB的表达也可促进PhMn节律性的恢复,而Si-RNA诱导的PhMn中TrkB表达抑制则延缓恢复。总之,增强PhMn的BDNF-TrkB信号通路可能是促进SCI后功能恢复的有效治疗手段。     

Molecular characterization of the transition to mid-life in Caenorhabditis elegans

We present an initial molecular characterization of a morphological transition between two early aging states. In previous work, an age score reflecting physiological age was developed using a machine classifier trained on images of worm populations at fixed chronological ages throughout their lifespan. The distribution of age scores identified three stable post-developmental states and transitions. The first transition occurs at day 5 post-hatching, where a significant percentage of the population exists in both state I and state II. The temperature dependence of the timing of this transition (Q ₁₀?~?1.17) is too low to be explained by a stepwise process with an enzymatic or chemical rate-limiting step, potentially implicating a more complex mechanism. Individual animals at day 5 were sorted into state I and state II groups using the machine classifier and analyzed by microarray expression profiling. Despite being isogenic, grown for the same amount of time, and indistinguishable by eye, these two morphological states were confirmed to be molecularly distinct by hierarchical clustering and principal component analysis of the microarray results. These molecular differences suggest that pharynx morphology reflects the aging state of the whole organism. Our expression profiling yielded a gene set that showed significant overlap with those from three previous age-related studies and identified several genes not previously implicated in aging. A highly represented group of genes unique to this study is involved in targeted ubiquitin-mediated proteolysis, including Skp1-related (SKR), F-box-containing, and BTB motif adaptors.     

Clinical features of Poncet’s disease. From the description of 198 cases found in the literature

Poncet’s disease (PD) is an entity described as a reactive arthritis due to tuberculous infection elsewhere from the joints. PD existence has been questioned; however, more cases have been reported over the years. Due to its rare nature, little is known about the clinical picture of this disease and no prospective studies had been made to address this issue. We performed a systematic review of the written literature on PD in different databases using the key words “Poncet’s disease,” “tuberculous rheumatism,” and “tuberculous reactive arthritis.” Out of 78 articles, 198 patients were included in the analysis, plus our patient. Several characteristic patterns were found. Also, a review of the pathogenesis and some hypotheses are made. PD is a well-defined entity, which should be taken as a reactive arthritis for future studies given the increase in TB incidence and prevalence around the world, especially in high-burden countries.