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1.
Musculoskelet Surg ; 2024 Jan 24.
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.

2.
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
3.
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.

4.
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
5.
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
6.
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
8.
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
10.
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
11.
Phys Med Biol ; 57(18): 5667-78, 2012 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-22935644

RESUMO

Hadrontherapy is an emerging technique in cancer therapy that uses beams of charged particles. To meet the improved capability of hadrontherapy in matching the dose release with the cancer position, new dose-monitoring techniques need to be developed and introduced into clinical use. The measurement of the fluxes of the secondary particles produced by the hadron beam is of fundamental importance in the design of any dose-monitoring device and is eagerly needed to tune Monte Carlo simulations. We report the measurements carried out with charged secondary particles produced from the interaction of a 80 MeV/u fully stripped carbon ion beam at the INFN Laboratori Nazionali del Sud, Catania, with a poly-methyl methacrylate target. Charged secondary particles, produced at 90° with respect to the beam axis, have been tracked with a drift chamber, while their energy and time of flight have been measured by means of a LYSO scintillator. Secondary protons have been identified exploiting the energy and time-of-flight information, and their emission region has been reconstructed backtracking from the drift chamber to the target. Moreover, a position scan of the target indicates that the reconstructed emission region follows the movement of the expected Bragg peak position. Exploiting the reconstruction of the emission region, an accuracy on the Bragg peak determination in the submillimeter range has been obtained. The measured differential production rate for protons produced with E(Prod)(kin) > 83 MeV and emitted at 90° with respect to the beam line is dN(P)/(dN(C)dΩ) (E(Prod)(kin) > 83 MeV, θ = 90°) = (2.69 ± 0.08(stat) ± 0.12(sys)) × 10⁻4 sr⁻¹.


Assuntos
Radioterapia com Íons Pesados , Polimetil Metacrilato , Radiometria/instrumentação
12.
Mol Neurobiol ; 45(3): 596-604, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22648535

RESUMO

Phospholipases (PLA2s) are a superfamily of enzymes characterized by the ability to specifically hydrolyze the sn-2 ester bond of phospholipids generating arachidonic acid, utilized in inflammatory responses, and lysophospholipids involved in the control of cell membrane remodeling and fluidity. PLA2s have been so far considered a crucial element in the etiopathogenesis of several neurological diseases such as cerebral ischemia, multiple sclerosis, Parkinson's disease, and Alzheimer's disease (AD). In AD, the role of beta-amyloid (Aß) fragments is well established although still more elusive are the molecular events of the cascade that from the Aß accumulation leads to neurodegeneration with its clinical manifestations. However, it is well known that inflammation and alteration of lipid metabolism are common features of AD brains. Findings obtained from in vitro studies, animal models, and human brain imaging analysis point towards cPLA2 as a key molecule in the onset and maintenance of the neurodegenerative mechanism(s) of AD. In this review, we have focused on the molecular and biological evidence of the involvement of cPLA2s in the pathogenesis of AD. An insight into the molecular mechanism(s) underlying the action and the regulation of cPLA2 is of tremendous interest in the pharmaceutical and biotechnology industry in developing selective and potent inhibitors able to modulate the onset and/or the outcome of AD.


Assuntos
Doença de Alzheimer/enzimologia , Doença de Alzheimer/etiologia , Cálcio/metabolismo , Fosfolipases A2 Citosólicas/metabolismo , Doença de Alzheimer/patologia , Doença de Alzheimer/terapia , Animais , Sistema Nervoso Central/enzimologia , Sistema Nervoso Central/patologia , Humanos , Modelos Biológicos , Terapia de Alvo Molecular , Fosfolipases A2 Citosólicas/antagonistas & inibidores
13.
Exp Clin Endocrinol Diabetes ; 120(5): 296-302, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22441725

RESUMO

AIM: We reported new methods to accurately estimate salt and water deficits during hyperglycaemic hyperosmolar coma (HC), valid under restricted boundary conditions. The accuracy of these estimates is herein verified over the unrestricted spectrum of abnormalities, to correctly evaluate any patient with just one algorithm that recognizes the boundary conditions pertaining to each abnormality, choosing the appropriate calculations. METHODS: A large number of cases of HC was simulated on computer by subtracting an exhaustive combination of water, sodium and chloride losses coupled to a large variety of gains in glucose. Altered solute concentrations were generated. From these true plasma concentrations generated by the computer, the losses of water and electrolytes were back-calculated with our new computational algorithm, by knowing in addition only the normal total body water and extra-cellular volume. The accuracy of the method was tested by comparing true to calculated values over the entire range of deranged values. In 100 patients admitted to hospital for HC these same computations were performed, where calculated data were validated by comparing them to true data obtained by balance studies performed during correction of the abnormality. RESULTS: Both in simulated and real cases of HC true and calculated data for the changes in Na and volume were significantly correlated (R (2)=0.76 and 0.50, respectively, P<0.01), while their mean values were not significantly different by paired "t" tests (P>0.05 for all). CONCLUSION: Our new computation algorithm, applicable to the bed-side, useful in accurately assessing the average water-electrolyte deficits of HC, can be used to guide correct re-infusion strategies.


Assuntos
Algoritmos , Água Corporal/metabolismo , Cloretos/sangue , Coma Hiperglicêmico Hiperosmolar não Cetótico/metabolismo , Modelos Biológicos , Sódio/sangue , Simulação por Computador , Humanos , Concentração Osmolar
14.
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
15.
Minerva Pediatr ; 62(6): 605-7, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21042274

RESUMO

Although epidemiological and clinical features strongly suggest an infectious cause, the etiology of Kawasaki disease (KD) still remains unknown. The hypothesis that bacterial toxins acting as superantigens could trigger the cascade of events leading to KD has been widely debated. We report four children with typical KD in whom a serological evidence of Mycoplasma pneumoniae infection was detected.


Assuntos
Síndrome de Linfonodos Mucocutâneos/etiologia , Pneumonia por Mycoplasma/complicações , Pré-Escolar , Humanos , Lactente , Itália , Masculino
16.
Surg Endosc ; 18(10): 1431-4, 2004 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-15791364

RESUMO

BACKGROUND: Endoscopic retrograde cholangiopancreatography and stent placement are relatively new alternatives to surgery for the treatment of chronic pancreatitis. The objective of this study was to determine the efficacy of pancreatic duct stent placement for the treatment of chronic pancreatitis. METHODS: This study included 89 patients treated with pancreatic stents between 1993 and 2002. The patients were contacted via telephone for a personal interview with regard to pain, medication usage, weight loss or gain, and eating patterns. Additionally, medication usage before and after treatment was documented from the Kentucky Cabinet for Health Services' electronic reporting system for narcotic use. RESULTS: Of the 89 patients, 9 were deceased, 5 either refused to interview or could not be contacted, and 75 were interviewed. Significant weight gain exceeding 15 lb after treatment was experienced by 22%, whereas only 4% lost weight. A majority of the patients (68%) noted that they had less severe relapses or no relapses after treatment. The patients reported a decrease in pain level on a 10-point scale from 8.7 to 4.1 (53% decrease) after treatment. A decrease in pain medication usage was reported by 47% of the patients, and 83% considered their treatment successful. The Kentucky All Schedule Prescription Electronic Report (KASPER) was obtained before and after treatment for 55 patients. According to this statewide electronic reporting system, 63% had a documented decrease in narcotic use. CONCLUSION: The findings of this study support the use of pancreatic duct stenting as an option before surgical intervention for these difficult-to-manage patients with chronic pancreatitis.


Assuntos
Ductos Pancreáticos , Pancreatite/cirurgia , Stents , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
17.
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
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