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2.
Plant Biol (Stuttg) ; 26(5): 777-788, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38843103

RESUMO

Rhizobacteria play a crucial role in plant growth and yield, stimulating primary production and improving stress resistance. Climate change has several consequences worldwide that affect arable land and agriculture. Studies on plant-soil-microorganism interactions to enhance plant productivity and/or resistance to abiotic stress may open new perspectives. This strategy aims to make agricultural-relevant plant species able to complete their biological cycle in extreme soils with the help of inoculated or primed plant growth-promoting rhizobacteria (PGPR). We provide an overview of the evolution of interest in PGPR research in the last 30 years through: (i) a quantitative search on the Scopus database; (ii) keyword frequencies and clustering analysis, and (iii) a keyword network and time-gradient analysis. The review of scientific literature on PGPR highlighted an increase in publications in the last 15 years, and a specific time gradient on subtopics, such as abiotic stresses. The rise in PGPR as a keyword co-occurring with salinity and drought stresses aligns with the growing number of papers from countries directly or partly affected by climate change. The study of PGPR, its features, and related applications will be a key challenge in the next decades, considering climate change effects on agriculture. The increased interest in PGPR leads to deeper knowledge focused specifically on researching agriculturally sustainable solutions for soils affected by salinity and drought.


Assuntos
Bibliometria , Secas , Desenvolvimento Vegetal , Salinidade , Microbiologia do Solo , Desenvolvimento Vegetal/fisiologia , Estresse Fisiológico , Mudança Climática
3.
Musculoskelet Surg ; 108(3): 289-295, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38265562

RESUMO

To evidence the existence of a gender gap in the orthopedic scientific literature by including also differences between some specific orthopedic surgery specialities, such as hands and feet. Then, we also considered gender role in the Authorship linked with the economic wealth of each country belonging to each Author. The gender of the first Authors of journals on orthopedics and sports medicine indexing in the Scopus database with the highest impact factor (IF) related to the year 2019, for the period from January 1, 2015, to December 31, 2020, were considered. A total of 11 journals were considered, including a total of 5474 articles, 1087 (19.86%) had a woman as the first Author and 4387 (80.14%) a man. During the studied period, the trend seems to be the same (p = 0.906): Men were significantly more producing than women in the orthopedic field both by considering the topic of the journal (p = .003), all the most impacted orthopedic journals (p < 0.001) and economies (p < 0.001). There was therefore a strong significance: In the orthopedic field, there were significantly more male researchers who presented their first name in scientific publications compared to females in all orthopedic subspecialties. The economically poorer countries published less and the role of women became almost absent.


Assuntos
Autoria , Fator de Impacto de Revistas , Ortopedia , Publicações Periódicas como Assunto , Humanos , Masculino , Feminino , Publicações Periódicas como Assunto/estatística & dados numéricos , Editoração/estatística & dados numéricos , Papel de Gênero , Bibliometria , Fatores Sexuais
4.
Minerva Med ; 104(4): 421-9, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24008604

RESUMO

AIM: Aim of the study was to compare the diagnostic yield of implantable loop recorders (ILR) of two successive generations for the assessment of syncope. METHODS: Data on patients who had undergone ILR implantation for unexplained syncope in four Italian public hospitals were retrospectively acquired from the Medtronic Clinical Service database. After implantation, routine follow-up examinations were performed every 90 days, while urgent examinations were carried out in the event of syncope recurrence. RESULTS: The following findings were regarded as diagnostic: ECG documentation of a syncope recurrence; documentation of any of the arrhythmias listed by the current guidelines as diagnostic findings even if asymptomatic. Between November 2002 and March 2010, 107 patients received an ILR (40 Medtronic Reveal® Plus; 67 Medtronic Reveal® DX/XT) and underwent at least one follow-up examination. Diagnoses were made in 7 (17.5%) and 24 (35.8%) (P=0.043) patients, with a median time of 228 and 65 days, respectively. Three (42.9%) and 21 (87.5%) (P=0.029) diagnoses were based on automatically detected events, while adverse outcomes occurred in 6 and in 1 (P=0.01) patients, respectively. CONCLUSION: Our results show that the new-generation device offer a higher diagnostic yield, mainly as a result of its improved automatic detection function, and is associated with fewer adverse outcomes.


Assuntos
Arritmias Cardíacas/diagnóstico , Eletrocardiografia Ambulatorial/instrumentação , Eletrodos Implantados , Síncope/diagnóstico , Idoso , Arritmias Cardíacas/complicações , Arritmias Cardíacas/mortalidade , Feminino , Humanos , Masculino , Guias de Prática Clínica como Assunto , Estudos Retrospectivos , Síncope/etiologia , Síncope/mortalidade , Fatores de Tempo
5.
Nat Genet ; 5(4): 338-43, 1993 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8298640

RESUMO

Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families confined the disease locus to a single marker interval. A candidate cDNA clone was mapped to this interval which, as shown in the accompanying paper, is very likely the WD gene. Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian populations.


Assuntos
Cromossomos Humanos Par 13 , Haplótipos/genética , Degeneração Hepatolenticular/genética , Sequência de Bases , Cosmídeos , Família , Feminino , Marcadores Genéticos , Biblioteca Genômica , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Dados de Sequência Molecular , Mutação
6.
Eur Rev Med Pharmacol Sci ; 27(19): 9346-9354, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37843348

RESUMO

OBJECTIVE: Obesity is a multifactorial disease that is one of the major public health problems. It is the result of the interaction between behavioral, social and endocrine-metabolic components. Already in the 80s, it was highlighted by the World Health Organization (WHO) that the workplace is an ideal setting for introducing health promotion programs. The aim of the present study was to implement a health promotion program among healthcare workers (HCWs) operating in an Emergency Hospital in Southern Italy, combining diet, sports activity and motivational support over a 24-month period. PATIENTS AND METHODS: Participants were HCWs operating in an Emergency Hospital in Southern Italy. The inclusion criteria were as follows: overweight or obesity, i.e., body mass index (BMI) >25 kg/m2, or waist circumference >102 cm (males), >88 cm (females); dyslipidemia without pharmacological treatment, i.e., total cholesterol >220 mg/dL, or high-density lipoprotein (HDL) cholesterol <35 mg/dL, or low-density lipoprotein cholesterol (LDL) >130 mg/dL, or triglycerides >200 mg/dL; fasting glucose levels >120 mg/dl and/or reduced tolerance to glucose or diabetes mellitus, without pharmacological treatment was determined through HbA1c. RESULTS: The analysis was conducted on 36 participants. Follow-up was performed after twelve (T12) and twenty-four months (T24). The average systolic blood pressure (SBP) and diastolic blood pressure (DBP) values decreased during the time period. The average BMI of both male and female HCWs was significantly reduced from T0 to T12 and from T0 to T24. The triglyceride levels gradually decreased, but not significantly, from T0 to T24. The average blood glucose values decreased from T0 to T12 and from T12 to T24. The number of subjects who started to perform physical activity increased significantly between T0 and T12 and between T0 and T24. CONCLUSIONS: The findings have led to a significant change in HCWs' lifestyles and body perceptions, as well as their ability to work.


Assuntos
Obesidade , Local de Trabalho , Humanos , Masculino , Feminino , Fatores de Risco , Triglicerídeos , Promoção da Saúde/métodos , HDL-Colesterol , Glucose , Índice de Massa Corporal
7.
Plant Biol (Stuttg) ; 25(4): 518-528, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36942418

RESUMO

Rising daily temperatures and water shortage are two of the major concerns in agriculture. In this work, we analysed the tolerance traits in a tomato line carrying a small region of the Solanum pennellii wild genome (IL12-4-SL) when grown under prolonged conditions of single and combined high temperature and water stress. When exposed to stress, IL12-4-SL showed higher heat tolerance than the cultivated line M82 at morphological, physiological, and biochemical levels. Moreover, under stress IL12-4-SL produced more flowers than M82, also characterized by higher pollen viability. In both lines, water stress negatively affected photosynthesis more than heat alone, whereas the combined stress did not further exacerbate the negative impacts of drought on this trait. Despite an observed decrease in carbon fixation, the quantum yield of PSII linear electron transport in IL12-4-SL was not affected by stress, thereby indicating that photochemical processes other than CO2 fixation acted to maintain the electron chain in oxidized state and prevent photodamage. The ability of IL12-4-SL to tolerate abiotic stress was also related to the intrinsic ability of this line to accumulate ascorbic acid. The data collected in this study clearly indicate improved tolerance to single and combined abiotic stress for IL12-4-SL, making this line a promising one for cultivation in a climate scenario characterized by frequent and long-lasting heatwaves and low rainfall.


Assuntos
Solanum lycopersicum , Solanum , Solanum lycopersicum/genética , Solanum/genética , Desidratação , Estresse Fisiológico/genética , Interleucina-12
8.
Artigo em Inglês | MEDLINE | ID: mdl-37534489

RESUMO

BACKGROUND: Chronic stress is a condition of pressure on the brain and whole body, which in the long term may lead to a frank disease status, even including type 2 diabetes (T2D). Stress activates the hypothalamus-pituitary-adrenal axis with release of glucocorticoids (GCs) and catecholamines, as well as activation of the inflammatory pathway of the immune system, which alters glucose and lipid metabolism, ultimately leading to beta-cell destruction, insulin resistance and T2D onset. Alteration of the glucose and lipid metabolism accounts for insulin resistance and T2D outcome. Furthermore, stress-related subversion of the intestinal microbiota leads to an imbalance of the gut-brain-immune axis, as evidenced by the stress-related depression often associated with T2D. Inflammatory mechanisms: A condition of generalized inflammation and subversion of the intestinal microbiota represents another facet of stress-induced disease. In fact, chronic stress acts on the gut-brain axis with multi-organ consequences, as evidenced by the association between depression and T2D. Novel Therapeutic Options: Oxidative stress with the production of reactive oxygen species and cytokine-mediated inflammation represents the main hallmarks of chronic stress. ROS production and pro-inflammatory cytokines represent the main hallmarks of stress-related disorders, and therefore, the use of natural antioxidant and anti-inflammatory substances (nutraceuticals) may offer an alternative therapeutic approach to combat stress-related T2D. Single or combined administration of nutraceuticals would be very beneficial in targeting the neuro-endocrine-immune axis, thus, regulating major pathways involved in T2D onset. However, more clinical trials are needed to establish the effectiveness of nutraceutical treatment, dosage, time of administration and the most favorable combinations of compounds. Therefore, in view of their antioxidant and anti-inflammatory properties, the use of natural products or nutraceuticals for the treatment of stress-related diseases, even including T2D, will be discussed. Several evidences suggest that chronic stress represents one of the main factors responsible for the outcome of T2D.

9.
Eur Rev Med Pharmacol Sci ; 15(2): 211-3, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21434489

RESUMO

In this case report, we describe an accentuation of a pre-existing anisocoria shortly after tracheal intubation in a patient undergoing thyroidectomy. A 45-yr-old female patient with unequal pupillary diameter (right 2 mm > than left) and decreased light reflex in the right eye--due to a previous eye trauma--was scheduled for thyroidectomy because of multinodular goiter. Anesthesia was induced with propofol 2,5 mg/kg, fentanyl 3 mcg/kg and cisatracurium 0.15 mcg/kg. Immediately after tracheal intubation, examination of the right eye revealed a markedly dilated pupil (8 mm) which was nonreactive to direct and consensual light reflex. The left pupil was 2 mm, and normally reactive to light. An increase in heart rate was also registered (> 20% of baseline) with spontaneous return to baseline within 2 minutes. The right pupil returned to preoperative size within approximately one hour after awakening. From this case report, it emerges that a preexisting anisocoria may be exacerbated during anesthesia probably due to incomplete abolition of response to painful stimulus, such as tracheal intubation, provided by anesthetic drugs in the affected eye. The main contributing factor for accentuation of anisocoria could be sympathetic dominance in the pupil with pre-existing mechanical interruption in compensatory parasympathetic mechanisms.


Assuntos
Anestesia/efeitos adversos , Anisocoria/complicações , Feminino , Humanos , Pessoa de Meia-Idade , Midríase/etiologia , Tireoidectomia
10.
Eur Rev Med Pharmacol Sci ; 24(20): 10853-10859, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33155247

RESUMO

OBJECTIVE: The aim of this review paper was to discuss the gut microbiota-related aspects of COVID-19 patients. We presented the faecal-oral transmission of SARS-CoV-2, gut microbiota imbalance, and fecal microbiota transplantation as a hidden source of this virus. MATERIALS AND METHODS: We analyzed the available literature (PubMed, Embase, Google Scholar databases) regarding COVID-19 and gut microbiota related aspects. RESULTS: The gastrointestinal symptoms, such as nausea, vomiting, diarrhea, abdominal discomfort/pain, may occur in these patients. Notably, these symptoms may contribute to the severity of COVID-19. Recent several studies have revealed a new SARS-CoV-2 transmission possibility, opening a fresh view on COVID-19. It is observed the possibility of SARS-CoV-2 transmission via faecal-oral route. Fecal microbiota transplantation may be a hidden source of SARS-CoV-2. Additionally, the pharmacological treatment of COVID-19 and other factors may significantly alter the composition of gut microbiota. Among others, loss of bacterial diversity, the decrease of commensal microbes as well as the increase of opportunistic pathogens are observed. CONCLUSIONS: The alterations of gut microbiota in COVID-19 patients consequently may lead to the development of gut dysbiosis-related diseases even after recovery from COVID-19. Therefore, it is recommended to screen stool samples taken from recovered patients at least 35 days after clearance of virus from respiratory tract. Before 35 days period, SARS-CoV-2 may still be detected in feces. It is also recommended to screen the composition as well as the activity of gut microbiota to assess its balance. In the case of gut dysbiosis, there should be introduced an appropriate method of its modulation. Additionally, all the fecal samples which are prepared for fecal microbiota transplantation should be tested for SARS-CoV-2 to provide protection for its recipients.


Assuntos
Infecções por Coronavirus/microbiologia , Gastroenteropatias/microbiologia , Trato Gastrointestinal/microbiologia , Pneumonia Viral/microbiologia , COVID-19 , Diarreia/virologia , Fezes/virologia , Gastroenteropatias/virologia , Microbioma Gastrointestinal , Trato Gastrointestinal/virologia , Humanos , Pandemias , Índice de Gravidade de Doença , Vômito/virologia
11.
Eur Rev Med Pharmacol Sci ; 24(14): 7889-7904, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32744718

RESUMO

OBJECTIVE: In late December 2019 in Wuhan (China), Health Commission reported a cluster of pneumonia cases of unknown etiology, subsequently isolated and named Severe Acute Respiratory Syndrome (SARS) Coronavirus 2 (CoV-2). In this review, the main transmission routes and causes of mortality associated with COVID-19 were investigated. MATERIAL AND METHODS: A review was carried out to recognize relevant research available until 10 April 2020. RESULTS: The main transmission routes of COVID-19 have been the following: animal to human and human-to-human pathways, namely: respiratory transmission; oro-fecal transmission; air, surface-human transmission. Transmission from asymptomatic persons, healthcare transmission, and interfamily transmission have been well documented. CONCLUSIONS: SARS-CoV-2 possesses powerful pathogenicity and transmissibility. It is presumed to spread primarily via respiratory droplets and close contact. The most probable transmission pathway is definitely the inter-human one. Asymptomatic patients seem to play a crucial role in spreading the infection. Because of COVID-19 infection pandemic potential, careful surveillance is essential to monitor its future host adaptation, viral evolution, infectivity, transmissibility, and pathogenicity in order to gain an effective vaccine and flock immunity and reduce mortality as soon and as much as it is possible.


Assuntos
Infecções por Coronavirus/transmissão , Pneumonia Viral/transmissão , Animais , Doenças Assintomáticas , Betacoronavirus/isolamento & purificação , COVID-19 , Infecções por Coronavirus/patologia , Infecções por Coronavirus/virologia , Fezes/virologia , Humanos , Transmissão Vertical de Doenças Infecciosas , Pandemias , Pneumonia Viral/patologia , Pneumonia Viral/virologia , SARS-CoV-2 , Escarro/virologia
12.
Plant Biol (Stuttg) ; 21(4): 615-626, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30585676

RESUMO

The realisation of manned space exploration requires the development of Bioregenerative Life Support Systems (BLSS). In such self-sufficient closed habitats, higher plants have a fundamental role in air regeneration, water recovery, food production and waste recycling. In the space environment, ionising radiation represents one of the main constraints to plant growth. In this study, we explore whether low doses of heavy ions, namely Ca 25 Gy, delivered at the seed stage, may induce positive outcomes on growth and functional traits in plants of Solanum lycopersicum L. 'Microtom'. After irradiation of seed, plant growth was monitored during the whole plant life cycle, from germination to fruit ripening. Morphological parameters, photosynthetic efficiency, leaf anatomical functional traits and antioxidant production in leaves and fruits were analysed. Our data demonstrate that irradiation of seeds with 25 Gy Ca ions does not prevent achievement of the seed-to-seed cycle in 'Microtom', and induces a more compact plant size compared to the control. Plants germinated from irradiated seeds show better photochemical efficiency than controls, likely due to the higher amount of D1 protein and photosynthetic pigment content. Leaves of these plants also had smaller cells with a lower number of chloroplasts. The dose of 25 Gy Ca ions is also responsible for positive outcomes in fruits: although developing a lower number of berries, plants germinated from irradiated seeds produce larger berries, richer in carotenoids, ascorbic acid and anthocyanins than controls. These specific traits may be useful for 'Microtom' cultivation in BLSS in space, in so far as the crew members could benefit from fresh food richer in functional compounds that can be directly produced on board.


Assuntos
Frutas/efeitos da radiação , Sistemas de Manutenção da Vida , Fotossíntese/efeitos da radiação , Folhas de Planta/efeitos da radiação , Solanum lycopersicum/efeitos da radiação , Antioxidantes/metabolismo , Ácido Ascórbico/metabolismo , Western Blotting , Catalepsia/metabolismo , Clorofila A/metabolismo , Germinação/efeitos da radiação , Íons Pesados , Solanum lycopersicum/anatomia & histologia , Solanum lycopersicum/crescimento & desenvolvimento , Solanum lycopersicum/metabolismo , Folhas de Planta/anatomia & histologia , Folhas de Planta/metabolismo , Proteínas de Plantas/metabolismo , Sementes/efeitos da radiação , Superóxido Dismutase/metabolismo
13.
Eur J Hum Genet ; 6(4): 341-4, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-9781041

RESUMO

A second kindred has been identified which supports the previously reported location of DFNB9. Linkage has been established to markers closely linked to DFNB9 which is located on 2p22-p23. The hearing impaired individuals in this highly consanguineous kindred from Eastern Turkey have prelingual profound hearing loss which affects all frequencies. A genetic map of the 2p22-p23 region where DFNB9 resides was generated using marker genotypes available from the CEPH database. All markers were placed on this genetic map using a likelihood ratio criterion of 1000:1. This map suggests that the region for DFNB9 is less than 1.08 cM, 95% confidence interval (0-2.59 cM).


Assuntos
Surdez/genética , Genes Recessivos , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 2 , Feminino , Ligação Genética , Genótipo , Humanos , Masculino , Oriente Médio , Linhagem
14.
Atherosclerosis ; 81(2): 95-102, 1990 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-2322325

RESUMO

Serum levels of lipids, lipoproteins and apolipoproteins A-I and B were evaluated in 102 patients (75 males and 27 females; ages 58 +/- 8 and 61 +/- 7 years (mean +/- SD), respectively) with arteriosclerosis of the lower limbs of supra-aortic trunks. Compared to findings in 64 healthy, age-matched control subjects, male patients in both groups had significantly higher serum triglyceride levels (+42%, P less than 0.05), while female patients with lower limb arteriosclerosis showed significantly increased cholesterol and triglyceride concentrations (+19%, P less than 0.01 and +82%, P less than 0.05, respectively). LDL-triglycerides were also increased in all patients. HDL-cholesterol was significantly decreased in male patients with arteriosclerosis of the lower limbs (-27%, P less than 0.01) and the supra-aortic trunks (-28%, P less than 0.01), and in females of both groups (-26%, P less than 0.01 and -20%, P less than 0.01, respectively); in terms of percent, HDL2-cholesterol was reduced 2-fold compared to HDL3-cholesterol. Patient apolipoprotein A-I and B levels were unchanged. In male and female patients, correlations between triglycerides and HDL-cholesterol as well as HDL2-cholesterol were negative, but not significant; on the other hand, both correlations were negative and significant in male controls, while only the correlation between triglycerides and HDL2-cholesterol was negative and significant in the female controls. Since HDL-cholesterol, and in particular HDL2-cholesterol, concentrations seem closely related to the intravascular catabolism of triglyceride-rich lipoproteins, the absence of a significant correlation between these parameters in the patients suggests a possible alteration in this metabolic process.


Assuntos
Arteriosclerose/complicações , Erros Inatos do Metabolismo Lipídico/complicações , Apolipoproteínas/sangue , Arteriosclerose/sangue , Feminino , Humanos , Erros Inatos do Metabolismo Lipídico/sangue , Lipoproteínas/sangue , Masculino , Pessoa de Meia-Idade
15.
Atherosclerosis ; 59(1): 47-56, 1986 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-3081013

RESUMO

Twelve patients with mild and 3 with severe hypercholesterolemia were stabilized with an isocaloric diet containing less than 300 mg cholesterol daily with a P/S ratio of 1.8, and placebo period of 4 weeks. They were administered 1000 mg probucol daily for 12 weeks, followed by placebo for 6 weeks. In patients with mild disease, a significant cholesterol reduction was achieved in serum, LDL, and HDL (maximum decrease, 17%, 13%, and 31%, respectively). While HDL3 cholesterol was reduced significantly throughout the period (P less than 0.001), HDL2 cholesterol showed a significant decrease only at the 4th week of treatment (P less than 0.001), and returned to basal levels at the 8th and 12th treatment weeks. Serum apo B levels decreased only slightly, but the HDL-apo A-I fall was significant with a reduction in the HDL-CH/HDL-apo A-I ratio throughout the treatment period. In 3 patients with severe disease, cholesterol decrease in serum and in VLDL, LDL and HDL fractions varied, but on the whole was lower than in patients with mild disease. A decrease in VLDL-CH and HDL-CH was present in all 3, but LDL-CH levels were only slightly lowered in 2 patients, and unchanged in the third. Serum probucol levels fell 66% from the 4th to the 12th treatment week, and in parallel, the percentage of lipoprotein-bound drug increased about 2-fold. It is suggested that these changes in pharmacokinetics as well as the cholesterol-lowering effect of the drug may be due to a change in lipoprotein composition or structure.


Assuntos
HDL-Colesterol/sangue , LDL-Colesterol/sangue , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Fenóis/uso terapêutico , Probucol/uso terapêutico , Adulto , Apolipoproteína A-I , Apolipoproteínas A/sangue , Apolipoproteínas B/sangue , Feminino , Humanos , Lipoproteínas HDL/sangue , Lipoproteínas HDL2 , Lipoproteínas HDL3 , Lipoproteínas LDL/sangue , Lipoproteínas VLDL/sangue , Masculino , Pessoa de Meia-Idade , Probucol/efeitos adversos , Probucol/sangue , Probucol/farmacologia
16.
Am J Med Genet ; 103(1): 1-8, 2001 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-11562927

RESUMO

We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeletal features with short stature, brachydactyly of fingers and toes, small downslanting palpebral fissures, large bulbous nose, hypoplastic ear lobe and macrostomia. Carrier females are not mentally retarded, although some of them have mild dysmorphic features such as minor ear lobe abnormalities, as well as language and learning problems. Linkage analysis for X-chromosome markers resulted in a maximum lod score of 3.61 with marker DXS1001 in Xq24. Recombination observed with flanking markers identified a region of 16 cM for further study. None of the other XLMR syndromes known to map in the same region shows the same composite phenotype. This evidence strongly suggests that the genetic disease in this family is unique.


Assuntos
Transtornos do Crescimento/patologia , Deficiência Intelectual/genética , Cromossomo X/genética , Adolescente , Adulto , Mapeamento Cromossômico , Saúde da Família , Feminino , Dedos/anormalidades , Ligação Genética , Humanos , Deficiência Intelectual/patologia , Cariotipagem , Escore Lod , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Linhagem , Sindactilia/patologia , Síndrome , Dedos do Pé/anormalidades
17.
Metabolism ; 44(2): 161-5, 1995 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-7869910

RESUMO

The influence of age on the response of plasma lipids, body composition, and cardiovascular performance to physical training and detraining was studied in 12 older and 12 young adult male cyclists. The athletes were first examined at the peak of their seasonal preparation and then again 2 months after its suspension. Sedentary males matched for age, weight, and height comprised the respective control groups. During training, body fat mass (BFM) was significantly lower and maximum oxygen consumption (VO2max) higher in both groups of cyclists as compared with controls. No differences in serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), apolipoprotein (apo) B, apo A-II, and fibrinogen were found. During the same phase, triglycerides (TG) and the LDL-C to high-density lipoprotein cholesterol (HDL-C) ratio were significantly lower and apo A-I, HDL-C, HDL3-C, and the apo A-I/apo B ratio were significantly higher in the athletes than in their corresponding sedentary controls. After physical deconditioning, BFM increased and VO2max decreased significantly in both groups of athletes. TG, very-low-density lipoprotein cholesterol (VLDL-C), and fibrinogen increased in young athletes while the LDL-C/HDL-C ratio increased, and apo A-I, HDL-C, HDL2-C, and HDL3-C decreased significantly in both young and older athletes. Thus, an aerobic training program induced an antiatherogenic lipoprotein profile and beneficial modifications in body composition and aerobic power in both older and younger subjects; a 2-month interruption in the program changed these parameters unfavorably in both groups. Age does not seem to influence significantly the plasma lipid response to physical deconditioning.


Assuntos
Composição Corporal , Lipídeos/sangue , Lipoproteínas/sangue , Adulto , Fatores Etários , Dieta , Ingestão de Energia , Exercício Físico , Humanos , Masculino , Pessoa de Meia-Idade , Esportes
18.
Metabolism ; 39(2): 203-8, 1990 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-2105436

RESUMO

To determine the effects of anabolic steroids on serum lipid and apoprotein levels, 14 white male body builders who self-administered steroids for 2 to 3 months (steroid users) were studied; 10 agreed to screening while they were taking the drugs (ON treatment) and also at about 3 months following their suspension (OFF treatment). Controls consisted of 17 body builders who had never taken steroids (nonusers), and a group of 18 healthy sedentary subjects (controls). During the period of steroid administration, there was a slight reduction in total serum cholesterol, with a marked cholesterol decrease in the high-density lipoprotein (HDL) subfractions HDL2 and HDL3, and a significant reduction in the HDL2 cholesterol/HDL3 cholesterol ratio; the percentage of serum cholesterol transported by low-density lipoproteins (LDL) increased significantly. In addition, a marked apoprotein (apo) A-I reduction in the HDL2 and HDL3 subfractions was observed, as well as an apo A-II decrease that was significant only in the HDL3 subfraction, with an A-I/A-II ratio significantly reduced in both subfractions. Serum apo B was only slightly increased, with a very high B/A-I ratio. Apolipoprotein C-II and E levels showed no modifications, while apo C-III reduced significantly. Lipid and apoprotein values returned to almost normal levels in the OFF treatment period. Findings in the group of nonusers were similar to those in sedentary subjects. These results indicate that anabolic steroids profoundly alter the serum lipid-protein profile, and the changes may be caused in part by the significant differences observed in apoprotein levels.


Assuntos
Anabolizantes/administração & dosagem , Apolipoproteínas/sangue , Colesterol/sangue , Lipoproteínas/sangue , Esportes , Adulto , Antropometria , Apolipoproteína A-I , Apolipoproteína A-II , Apolipoproteína C-II , Apolipoproteína C-III , Apolipoproteínas A/sangue , Apolipoproteínas B/sangue , Apolipoproteínas C/sangue , Apolipoproteínas E/sangue , Dieta , Humanos , Lipoproteínas HDL/sangue , Lipoproteínas HDL2 , Lipoproteínas HDL3 , Masculino , Autoadministração
19.
Diabetes Res Clin Pract ; 6(2): 149-55, 1989 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-2538300

RESUMO

We evaluated the effect of a diet rich in natural (NF) or extractive fibres (guar gum) on 12 male IDD (insulin-dependent diabetes) out-patients. The treatment lasted for 2 months. During the first month the patients were on an isocaloric diet containing 30 g of fibres and then they were randomly subdivided into two groups. One group followed an isocaloric diet rich in fibres (70 g/day), the second group an isocaloric diet enriched by guar (9 g of guar added to 30 g of natural fibres/day). Reduced serum levels of HbA1c and several amino acids showed that metabolic control significantly improved under each dietary regimen.


Assuntos
Aminoácidos/sangue , Diabetes Mellitus Tipo 1/sangue , Fibras na Dieta/farmacologia , Lipídeos/sangue , Adulto , Fibras na Dieta/efeitos adversos , Galactanos/farmacologia , Humanos , Masculino , Mananas/farmacologia , Pessoa de Meia-Idade , Gomas Vegetais
20.
Mt Sinai J Med ; 59(4): 350-6, 1992 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-1406753

RESUMO

Although Marfan syndrome has been a recognized clinical entity for nearly a century, only in the early 1950s were its manifestations and genetic features firmly and fully established. Similarly, although the identification of the basic defect in Marfan syndrome had been vigorously pursued for several decades, it was only in 1991 that two independent reports implicated fibrillin as the defective gene product. Surprisingly and serendipitously, these studies also revealed genetic heterogeneity of the fibrillin proteins and established linkage between one of these loci and a Marfan-related disorder, congenital contractural arachnodactyly. Like Marfan syndrome, this condition is accompanied by skeletal abnormalities; however, flexion joint contractures replace the loose-jointedness of Marfan syndrome and, more importantly, neither the eye nor the aorta are affected. More recently, a similar association with the fibrillin gene has also been established in the dominantly inherited form of ectopia lentis. These associations of structurally related gene products with Marfan and related syndromes may conceivably imply that other connective tissue disorders are caused by mutations in these or other yet undiscovered fibrillin genes.


Assuntos
Síndrome de Marfan/genética , Fibrilinas , Genes , Humanos , Síndrome de Marfan/diagnóstico , Proteínas dos Microfilamentos/genética , Mutação
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