Natural history of 39 patients with Achondroplasia

OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G4A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences

Does caffeine ingestion before a short-term sprint interval training promote body fat loss?

We investigated the effect of caffeine ingestion combined with a 2-wk sprint interval training (SIT) on training-induced reductions in body adiposity. Twenty physically-active men ingested either 5 mg/kg of cellulose as a placebo (PLA, n=10) or 5 mg/kg of caffeine (CAF, n=10) 60 min before each SIT session (13×30 s sprint/15 s of rest). Body mass and skinfold thickness were measured pre- and post-training. Energy expenditure was measured at rest, during exercise, and 45 min after exercise in the first SIT session. Body fat was similar between PLA and CAF groups at pre-training (P\u3e0.05). However, there was a significant decrease in body fat after training in the CAF group (−5.9±4.2%, P\u3c0.05) but not in PLA (1.5±8.0%, P\u3e0.05). There was no difference in energy expenditure at rest and during exercise between PLA and CAF groups (P\u3e0.05), but the post-exercise energy expenditure was 18.3±21.4% greater in the CAF than in the PLA group (P\u3c0.05). In conclusion, caffeine ingestion before SIT sessions induced a body fat loss that may be associated with higher post-exercise energy expenditure

Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome

Objectives: Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with highly recognizable phenotypical features, other chromosomal abnormalities might overlap phenotypes, especially considering that most studies in 5p use traditional cytogenetic techniques and not molecular techniques. Methods: The authors have investigated 29 patients with clinical suspicion of 5p- syndrome using Chromosomal Microarray (CMA), and have gathered information on previous tests, clinical signs, symptoms, and development of the patients. Results: The results showed 23 pure terminal deletions, one interstitial deletion, one deletion followed by a 3 Mb duplication in 5p, three cases of 5p deletion concomitant to duplications larger than 20 Mb in chromosomes 2, 9, and 18, and one 5p deletion with a chromosome Y deletion. CMA showed relevant CNVs not typically associated with 5p- that may have contributed to the final phenotype in these patients. Conclusions: The authors have identified three novel rearrangements between chromosomes 5 and 2 (Patient 27), 5 and 18 (Patient 11), and 5 and Y (Patient 22), with breakpoints and overlapped phenotypes that were not previously described. The authors also highlight the need for further molecular investigation using CMA, in different chromosomes beyond chromosome 5 (since those cases did not show only the typical deletion expected for the 5p- syndrome) to explain discordant chromosomal features and overlapped phenotypes to unravel the cause of the syndrome in atypical cases

The Noncommutative Harmonic Oscillator based in Simplectic Representation of Galilei Group

In this work we study symplectic unitary representations for the Galilei group. As a consequence the Schr\"odinger equation is derived in phase space. The formalism is based on the non-commutative structure of the star-product, and using the group theory approach as a guide a physical consistent theory in phase space is constructed. The state is described by a quasi-probability amplitude that is in association with the Wigner function. The 3D harmonic oscillator and the noncommutative oscillator are studied in phase space as an application, and the Wigner function associated to both cases are determined.Comment: 7 pages,no figure

Metastatic potential of an aneurysmal bone cyst

Aneurysmal bone cysts (ABCs) are benign bone tumors consisting of blood-filled cavities lined by connective tissue septa. Recently, the hypothesis that ABCs are lesions reactive to local hemodynamics has been challenged after the discovery of specific recurrent chromosomal abnormalities. Multiple cases of malignant transformation of ABC into (osteo)sarcoma have been described, as well as a number of cases of telangiectatic osteosarcoma which had been misdiagnosed as ABC. We herewith document a case of a pelvic ABC metastatic to the lung, liver, and kidneys. Diagnosis was confirmed by the presence of a break in the USP6 gene, which is pathognomonic for ABC, in a pulmonary metastasis of our patient. Sarcomatous transformation as an explanation for this behavior was ruled out by demonstrating diploid DNA content in both the pulmonary lesion and the primary tumor

Food-dependent, exercise-induced gastrointestinal distress

Among athletes strenuous exercise, dehydration and gastric emptying (GE) delay are the main causes of gastrointestinal (GI) complaints, whereas gut ischemia is the main cause of their nausea, vomiting, abdominal pain and (blood) diarrhea. Additionally any factor that limits sweat evaporation, such as a hot and humid environment and/or body dehydration, has profound effects on muscle glycogen depletion and risk for heat illness. A serious underperfusion of the gut often leads to mucosal damage and enhanced permeability so as to hide blood loss, microbiota invasion (or endotoxemia) and food-born allergen absorption (with anaphylaxis). The goal of exercise rehydration is to intake more fluid orally than what is being lost in sweat. Sports drinks provide the addition of sodium and carbohydrates to assist with intestinal absorption of water and muscle-glycogen replenishment, respectively. However GE is proportionally slowed by carbohydrate-rich (hyperosmolar) solutions. On the other hand, in order to prevent hyponatremia, avoiding overhydration is recommended. Caregiver's responsibility would be to inform athletes about potential dangers of drinking too much water and also advise them to refrain from using hypertonic fluid replacements

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

Background: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replacement Therapy (ERT) has provided significant benefits for patients, retarding the natural progression of the disease. Results: The authors evaluated 17 patients from the same family with a mild form of MPS type II; the proband had developed acute decompensated heart failure refractory to clinical measurements at 23 years and needed a rather urgent heart transplant; however, he died from surgical complications shortly after the procedure. Nevertheless, subsequent to his tragic death, 16 affected male relatives were detected after biochemical tests identifying the low or absent activity of the IDS enzyme and confirmed by molecular analysis of the IDS gene. Following diagnosis, different options of treatment were chosen: 6 patients started ERT with Elaprase® (Idursulfase) soon after, while the other 10 remained without ERT. Eventually, 4 patients in the latter group began ERT with Hunterase® (Idursulfase Beta). None presented adverse effects to either form of the enzyme. Among the 6 individuals without any ERT, two died of natural causes, after reaching 70 years. Despite the variable phenotype within the same family (mainly heart dysfunctions and carpal tunnel syndrome), all 14 remaining patients were alive with an independent lifestyle. Conclusion: Here, the authors report the variable progress of the disease with and without ERT in a large Brazilian family with a slowly progressive form of MPS II, harboring the same missense variant in the IDS gene

Antioxidant activity and polyphenols from seaweed and Halimeda Halimeda Opuntia monile

En este trabajo se estudió la actividad antioxidante de dos especies de algas marinas (H. opuntia y H. monile) mediante el ensayo de atrapamiento de radicales DPPH• y el sistema β-Caroteno-acido linoleico. Adicionalmente a las fracciones de ácidos fenolicos libres, ésteres solubles y ésteres insolubles de ácidos fenólicos se les determinó el contenido en fenoles totales mediante la técnica de Folin-Ciocalteu y posteriormente se identificaron y cuantificaron 8 ácidos fenólicos y cinámicos, resultando el componente mayoritario el ácido salicílico. En los ensayos utilizados se obtuvieron valores altos de actividad antioxidante para las diferentes fracciones. A partir de estos resultados se puede postular que la actividad antioxidante de los extractos polares de estas algas pudiera ser explicada, al menos parcialmente, por la presencia de los ácidos fenólicos y cinámicos. En el caso del alga Halimeda monile, de acuerdo con la literatura consultada, es el primer reporte de la actividad antioxidanteIn this paper, the antioxidant activity displayed by two different green seaweed species (H. opuntia y H. monile) was studied using the β- carotene/ linoleic acid and the DPPH• scavenging.systems as different experimental in vitro antioxidant assessment models. Polar seaweed fractions containing free phenolic acids, soluble esters and insoluble esters of phenolic acids were chemically characterized in terms of their phenolic content and composition. In that direction, 8 phenolic acids were identified and quantified, and salycilic acid was shown to be the majoritary compound on the fractions from both species. In addition, the polar fractions were proved to exert antioxidant activity in the two used experimental systems with considerably low values of CI50. Thus, in view of these findings, the antioxidant activity of these polar Halimeda spp. extracts could be supported and at least partially related to the presence of phenolic acids. In case of Halimeda monile this is, at least to the extend of our knowledge, the first report of such biological activity