Recurrent cellulitis and bacteremia in a patient with Noonan syndrome: A case report.

A 28-year old Japanese man with Noonan syndrome (NS) presented to our emergency department with painful erythema of the trunk and lower extremities since the previous day. He had been diagnosed with protein-losing enteropathy (PLE) with intestinal lymphangiectasia at age 25 years, and undergone lymphaticovenular anastomosis (LVA) twice. Three episodes of cellulitis of both lower extremities had occurred in the past 2 years. Extensive cellulitis with sepsis was diagnosed and piperacillin/tazobactam was started, which was de-escalated to ceftriaxone. He was discharged after 13 days of antibiotic therapy. After discharge, low-dose trimethoprim-sulfamethoxazole (SMZ-TMP) was started as the primary prophylaxis, but three episodes of cellulitis occurred in the next year and were treated with other antibiotics. NS, an autosomal dominant disease known as a RASopathy, is caused by germline mutations in RAS-MAPK pathway genes. Lymphedema resulting from lymphatic abnormalities is a concomitant manifestation in 20 % of patients with NS, and can be a risk factor for cellulitis. Hypoalbuminemia and hypoglobulinemia associated with PLE facilitate infections such as cellulitis. As a treatment for lymphedema in the extremities, LVA has shown objective and subjective improvements in most patients, and some studies have also reported its efficacy for lymphedema in patients with NS. Targeted molecular therapy with mitogen-activated protein kinase enzyme (MEK) inhibitor is used in treatment of cancers with activation of the RAS/MAPK pathway. MEK inhibitors have recently been tried in patients with RASopathies and severe lymphatic disorders, and can lead to rapid resolution of symptoms.

Miniaturized String Sampling Probe and Electrospray Extraction/Ionization within the Ion Inlet Tube for Mass Spectrometric Endoscopy.

A moving string sampling probe and a new ESI based ionization source that can be readily incorporated into the existing endoscopes are developed for performing in vivo mass spectrometry during the endoscopic procedure. The medical-grade silk suture driven by a stepping motor is used to perform the sampling on the region of interest when the probe head is brought gently into contact with the surface of the gastrointestinal tissue. The tissues and the compounds adhered to the sampling string are transported to an ionization region inside the ion inlet tube in which they are extracted and ionized by the charging droplets generated from an electrospray outside the ion inlet. Since the extraction/ionization and sampling processes are isolated, organic solvents, high voltage (HV), and heating can be used for the optimization of ionization without compromising the biocompatibility of the sampling probe. The demonstration of the in vivo analysis of the gastric mucosa of a mouse is performed using a 2 m long gastrointestinal endoscope.

Characteristics of patients with spontaneous dislocation of in-the-bag intraocular lens after pars plana vitrectomy.

PURPOSE: To determine the characteristics of eyes with late in-the-bag dislocation of an intraocular lens (IOL) after pars plana vitrectomy (PPV). METHODS: Fourteen eyes of 14 patients with a dislocated IOL after PPV were studied retrospectively. The data collected from the medical charts included the age, sex, history of eye diseases, axial length, and interval from PPV to time of IOL dislocation. The surgical procedures used during the PPV were also recorded. RESULTS: Seven eyes had undergone PPV for rhegmatogenous retinal detachment; 6 eyes, for proliferative diabetic retinopathy; and 1 eye, for retinal vein occlusion. The average interval between the PPV and the diagnosis of the dislocated IOL was 6.2 years (range 2.3-10.1 years). In all eyes, the peripheral vitreous was thoroughly removed with scleral depression during the PPV. CONCLUSIONS: The IOL dislocation was most likely caused by damage to the zonular fibers by the peripheral vitrectomy with scleral depression.

In-vitro culture with a tilting device in chemically defined media during meiotic maturation and early development improves the quality of blastocysts derived from in-vitro matured and fertilized porcine oocytes.

Under physiological conditions, mammalian oocytes and embryos appear to be stimulated not only chemically but also mechanically, such as by compression, shear stress and/or friction force in the follicle and female reproductive tract. The present study was undertaken to examine the effects of kinetic culture with a tilting device in chemically defined media during in vitro maturation (IVM) of porcine oocytes and in vitro culture (IVC) following in vitro fertilization (IVF) on the early developmental competence and quality of blastocysts. After culture in a chemically defined IVM medium, modified porcine oocyte medium (mPOM) containing gonadotropins and dibutyryl cAMP for 20 h, the mean diameter of the cumulus-oocyte complexes (COCs) was larger in the tilting culture than in the static controls, whereas the diameter of the oocytes did not differ. When culture of the COCs was continued additionally in a fresh medium without gonadotropins and dibutyryl cAMP for 24 h, the incidences of oocytes completing GVBD and developing to the metaphase-II stage did not differ between the tilting and static culture systems. Furthermore, the sperm penetration after IVF and developmental competence of the oocytes to the blastocyst stage were not different between the tilting and static systems during IVM and IVC. However, tilting culture during both IVM and IVC had a significant positive effect on the number of cells per blastocyst (P<0.05). These observations indicate that tilting culture during IVM and IVC in chemically defined media improves the quality of blastocyst, as determined by the number of cells per blastocyst, without any effects on penetrability and developmental competence.

Anticipation of elbow joint perturbation shortens the onset time of the reflex EMG response in biceps brachii and triceps brachii.

This study aimed to investigate the influence of the anticipation of a perturbation torque applied to extend the elbow joint on the onset time of reflex electromyogram (EMG) responses. A perturbation torque generated by an electromagnetic torque motor system was applied to the forearm of eleven subjects during trials. The trials were divided into an anticipated (AN) condition - perturbation torque applied after the auditory signal - and an unanticipated (UAN) condition - suddenly applied perturbation. To detect the reflex EMG response in the biceps brachii (Bb) and triceps brachii (Tb) muscles, a new method involving the discrete wavelet transform and outlier tests was used. We found that the onset time of the reflex response in both the muscles in the AN condition was significantly shorter than that in the UAN condition. The angle of transition from flexion to extension, which was induced by the reflex response of Bb, was also significantly smaller in the AN condition than in the UAN condition. The results indicate that the anticipation of an applied perturbation torque decreases the onset time of the reflex response in the Bb and Tb.