Ectodermal dysplasia–skin fragility syndrome: a novel mutation in the PKP1 gene

Ectodermal dysplasia–skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, palmoplantar hyperkeratosis, onichodystrophy, perioral fissuring and noncicatricial alopecia. It is caused by plakophilin‐1 (PKP1) deficiency, which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case with a novel PKP1 mutation in intron 6.     

Successful endoscopic ultrasound-guided overstenting biliary drainage through a pre-existing proximal migrated metal biliary stent

Biliary endoscopic drainage using metallic self-expanded stents has become a well-established method for palliative treatment of malignant biliary obstruction. However, its occlusion, mainly by tumor overgrowth, is still the main complication without a standard treatment. We here describe a new method of treatment for biliary metallic stent occlusion, through the echo guided biliary drainage. We present a 68-year-old patient with metastatic pancreatic cancer previously treated for jaundice with ERCP and self-expandable metallic stent insertion. Four weeks later, the patient developed jaundice and symptoms of gastric outlet obstruction. A new ERCP confirmed obstruction of the second portion of the duodenum, due to diffuse tumor growth. EUS was performed, and the previous metal biliary stent was seen occluded at the distal portion in the common bile duct. A EUS-guided choledocododenostomy was performed and then, an overlapping self-expanding metal enteral stent was placed through the malignant obstruction. There were no early complications and the procedure was also clinically effective in relieving jaundice and gastric outlet obstruction symptoms. If ERCP fails in the management of occluded biliary metallic stents, EUS biliary drain can provide effective biliary decompression and should be considered an alternative to other endoscopic techniques.     

Endoscopic ultrasonography guided drainage:Summary of consortium meeting,May 21,2012,San Diego,California

Endoscopic retrograde cholangiopancreatography(ERCP) is the preferred procedure for biliary and pancreatic drainage.While ERCP is successful in about 95% of cases,a small subset of cases are unsuccessful due to altered anatomy,peri-ampullary pathology,or malignant obstruction.Endoscopic ultrasound-guided drainage is a promising technique for biliary,pancreatic and recently gallbladder decompression,which provides multiple advantages over percutaneous or surgical biliary drainage.Multiple retrospective and some prospective studies have shown endoscopic ultrasoundguided drainage to be safe and effective.Based on the currently reported literature,regardless of the approach,the cumulative success rate is 84%-93% with an overall complication rate of 16%-35%.endoscopic ultrasoundguided drainage seems a viable therapeutic modality for failed conventional drainage when performed by highly skilled advanced endoscopists at tertiary centers with expertise in both echo-endoscopy and therapeutic endoscopy     

Behavioral,neuroendocrine and physiological indicators of the circadian biology of male and female rabbits

Adult rabbits show robust circadian rhythms of: nursing, food and water intake, hard faeces excretion, locomotion, body temperature, blood and intraocular pressure, corticosteroid secretion, and sleep. Control of several circadian rhythms involves a light‐entrained circadian clock and a food‐entrained oscillator. Nursing periodicity, however, relies on a suckling stimulation threshold. Brain structures regulating this activity include the paraventricular nucleus and preoptic area, as determined by lesions and quantification of cFOS‐ and PER1 clock gene‐immunoreactive proteins. Melatonin synthesis in the rabbit pineal gland shows a diurnal rhythm, with highest values at night and lowest ones during the day. In kits the main zeitgeber is milk intake, which synchronizes locomotor activity, body temperature, and corticosterone secretion. Brain regions involved in these effects include the median preoptic nucleus and several olfactory structures. As models for particular human illnesses rabbits have been valuable for studying glaucoma and cardiovascular disease. Circadian variations in intraocular pressure (main risk factor for glaucoma) have been found, with highest values at night, which depend on sympathetic innervation. Rabbits fed a high fat diet develop cholesterol plaques and high blood pressure, as do humans, and such increased fat intake directly modulates cardiovascular homeostasis and circadian patterns, independently of white adipose tissue accumulation. Rabbits have also been useful to investigate the characteristics of sleep across the day and its modulation by infections, cytokines and other endogenous humoral factors. Rabbit circadian biology warrants deeper investigation of the role of the suprachiasmatic nucleus in regulating most behavioral and physiological rhythms described above.