Search results for " Delay"

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome

2018

The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most …

Enhancement of Wound Healing in Normal and Diabetic Mice by Topical Application of Amorphous Polyphosphate. Superior Effect of a Host⁻Guest Composite…

2017

The effect of polyphosphate (polyP) microparticles on wound healing was tested both in vitro and in a mice model in vivo. Two approaches were used: pure salts of polyphosphate, fabricated as amorphous microparticles (MPs, consisting of calcium and magnesium salts of polyP, “Ca–polyp-MPs” and “Mg–polyp-MPs”), and host–guest composite particles, prepared from amorphous collagen (host) and polyphosphate (guest), termed “col/polyp-MPs”. Animal experiments with polyP on healing of excisional wounds were performed using both normal mice and diabetic mice. After a healing period of 7 days “Ca–polyp-MP” significantly improved re-epithelialization in normal mice from 31% (control) to 72% (polyP micr…

A rare rarity: neuroendocrine tumor of the esophagus

2019

Abstract Esophageal Neuroendocrine tumors (NETs) are rare, aggressive and lacking specific symptoms. This causes a diagnostic delay, worsening the prognosis. Numerous cases are reported in literature, without a consensus on the management. Our aim was to clarify epidemiology, clinical presentation, diagnostic, therapeutic management of esophageal NETs. Extensive literature search identified a total of 226 articles. One hundred twenty-five articles (n = 1676) met the inclusion criteria, showing that: the incidence of esophageal NET varies geographically; men (60–70 years) are more affected; smoking and alcohol abuse are the major risk factors; dysphagia, weight loss, appetite loss are the mo…

Gynecologic cancers in pregnancy: guidelines based on a third international consensus meeting

2019

We aimed to provide comprehensive protocols and promote effective management of pregnant women with gynecological cancers. New insights and more experience have been gained since the previous guidelines were published in 2014. Members of the International Network on Cancer, Infertility and Pregnancy (INCIP), in collaboration with other international experts, reviewed existing literature on their respective areas of expertise. Summaries were subsequently merged into a manuscript that served as a basis for discussion during the consensus meeting. Treatment of gynecological cancers during pregnancy is attainable if management is achieved by collaboration of a multidisciplinary team of health c…

Potential risks to offspring of intrauterine exposure to maternal age-related obstetric complications

2016

Several hypotheses have been proposed to explain the negative effects of delayed motherhood on an offspring’s morbidity later in life. However, these hypotheses are not supported by clinical and epidemiological evidence. Because advanced maternal age is associated with increased risk of obstetric complications, the aim of the present study was to ascertain whether the negative effects on offspring of intrauterine exposure to maternal age-related obstetric complications may explain the reported negative effects of delayed motherhood on offspring. To this end, a literature search was performed to identify relevant publications up to March 2016 on PubMed; references cited in relevant articles …

Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

2015

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not unive…

Deep Neural Network Frontend for Continuous EMG-Based Speech Recognition

2016

Non-existence of unfair delay in the exercise of claim actio for amounts unduly collected. Comment on Spanish STS no. 243/2019, of April (RJ 2019, 15…

2020

El Tribunal Supremo considera que el mero retraso en el ejercicio de una acción de reclamación de cantidad no puede ser considerado por si sólo constitutivo de retraso desleal. Además, es necesario que previamente al ejercicio del derecho existan hechos, actos o conductas que provoquen en el obligado la confianza de que el derecho en su contra no se ejercitará. The Supreme Court considers that the mere delay in the exercise of an action of claim of quantity cannot be considered to constitute unfair delay. In addition, it is necessary that prior to the exercise of the right there are facts, acts or conducts that cause int the obliged the confidence that the right against him will not be exer…

Abnormal pentagastrin response in a patient with pseudohypoparathyroidism

2002

The case of a 25 year old female patient with pseudohypoparathyroidism type I (PHP) and hypercalcitoninaemia is reported. She was referred to our clinic because of recurrent hypocalcaemia associated with paraesthesias and muscle cramps. She had no signs of Albright hereditary osteodystrophy (AHO), a normal mental status and no family history of hypocalcaemia or any other endocrine disease. Considering the laboratory results with hypocalcaemia, hyperphosphataemia, normal vitamin D and normal creatinine with an extraordinary elevated PTH we diagnosed pseudohypoparathyroidism type I. She had delayed pubertal development with menarche in the age of 20 and hypothyroidism with an atrophic thyroid…

Delayed Coloanal Anastomosis for rectovaginal fistula after colorectal resection for deep endometriosis

2016

The deep infiltrating endometriosis, defined as a subperitoneal infiltration of endometrial implants of ≥ 5 mm involving not only the colorectal tract but also rectovaginal septum, vagina and bladder often requires a challenging surgery. Endometriosis nodes of the rectovaginal septum, if symptomatic, need a resection of the involved colorectal tract with colorectal or coloanal anastomosis. Unfortunately in these cases is not uncommon the possibility of a postoperative rectovaginal fistula (RVF), caused by the weakness of the septum that must be skeletonized to completely remove the endometriosis nodes. Here we present a case of anastomotic leakage with high RVF after colorectal resection an…