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1.
Clin Biomech (Bristol, Avon) ; 70: 257-264, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31751861

RESUMO

BACKGROUND: Neurotoxic cancer treatments can cause chemotherapy-induced peripheral neuropathy and postural control deficits that cancer survivors report as a concern. Exercise-based sensorimotor training has emerged as a promising treatment for symptoms including balance deficits, however, more study is needed to optimize engagement and participation. We evaluated feasibility, satisfaction, and preliminary efficacy of a novel balance training program for cancer survivors: partnered, Adapted Argentine Tango dance (Tango). METHODS: Twenty-two individuals participated (n = 22). Tango classes (1 h) were offered twice/week. At baseline, midpoint (8 classes), and conclusion of the training (15 or 16 classes), we assessed postural control by measuring center-of-pressure (CoP) measures during quiet standing with eyes closed. We also documented attendance, barriers to attendance, and satisfaction (7 point scale; 1 high). At conclusion, we analyzed whether 1) attendance and satisfaction met feasibility criteria; 2) postural control improved among participants who were outside of normal range at baseline; and 3) co-enrolling with a companion increased attendance. FINDINGS: Feasibility criteria were met: more than half of participants attended more than half the classes offered with a mean satisfaction rate of 1.2 (SD 0.4). Those who enrolled with a companion (n = 9) attended more sessions than those who did not (n = 13) (Mann-Whitney U value = 20; p = 0.012). Participants with demonstrated deficits (n = 9) improved in 3 CoP measures at midpoint (i.e., medial-lateral sway, ellipse area, medial-lateral velocity), retaining improvement in 2 CoP measures at endpoint (i.e., medial-lateral sway, ellipse area). INTERPRETATION: Partnered, Adapted Argentine Tango is feasible for cancer survivors and may improve postural control. Enrolling with a companion improved attendance.


Assuntos
Sobreviventes de Câncer , Dançaterapia/métodos , Neoplasias/fisiopatologia , Equilíbrio Postural , Adulto , Idoso , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/reabilitação , Doenças do Sistema Nervoso Periférico , Projetos Piloto , Resultado do Tratamento
4.
Plant Dis ; 98(7): 864-875, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30708845

RESUMO

Existing crop monitoring programs determine the incidence and distribution of plant diseases and pathogens and assess the damage caused within a crop production region. These programs have traditionally used observed or predicted disease and pathogen data and environmental information to prescribe management practices that minimize crop loss. Monitoring programs are especially important for crops with broad geographic distribution or for diseases that can cause rapid and great economic losses. Successful monitoring programs have been developed for several plant diseases, including downy mildew of cucurbits, Fusarium head blight of wheat, potato late blight, and rusts of cereal crops. A recent example of a successful disease-monitoring program for an economically important crop is the soybean rust (SBR) monitoring effort within North America. SBR, caused by the fungus Phakopsora pachyrhizi, was first identified in the continental United States in November 2004. SBR causes moderate to severe yield losses globally. The fungus produces foliar lesions on soybean (Glycine max) and other legume hosts. P. pachyrhizi diverts nutrients from the host to its own growth and reproduction. The lesions also reduce photosynthetic area. Uredinia rupture the host epidermis and diminish stomatal regulation of transpiration to cause tissue desiccation and premature defoliation. Severe soybean yield losses can occur if plants defoliate during the mid-reproductive growth stages. The rapid response to the threat of SBR in North America resulted in an unprecedented amount of information dissemination and the development of a real-time, publicly available monitoring and prediction system known as the Soybean Rust-Pest Information Platform for Extension and Education (SBR-PIPE). The objectives of this article are (i) to highlight the successful response effort to SBR in North America, and (ii) to introduce researchers to the quantity and type of data generated by SBR-PIPE. Data from this system may now be used to answer questions about the biology, ecology, and epidemiology of an important pathogen and disease of soybean.

5.
Mol Hum Reprod ; 19(2): 102-8, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23100464

RESUMO

Mutations in the spindle checkpoint genes can cause improper chromosome segregations and aneuploidies, which in turn may lead to reproductive problems. Two of the proteins involved in this checkpoint are Aurora kinase B (AURKB), preventing the anaphase whenever microtubule-kinetochore attachments are not the proper ones during metaphase; and synaptonemal complex protein 3 (SYCP3), which is essential for the formation of the complex and for the recombination of the homologous chromosomes. This study has attempted to clarify the possible involvement of both proteins in the reproductive problems of patients with chromosomal instability. In order to do this, we have performed a screening for genetic variants in AURKB and SYCP3 among these patients using Sanger sequencing. Only one apparently non-pathogenic deletion was found in SYCP3. On the other hand, we found six sequence variations in AURKB. The consequences of these changes on the protein were studied in silico using different bioinformatic tools. In addition, the frequency of three of the variations was studied using a high-resolution melting approach. The absence of these three variants in control samples and their position in the AURKB gene suggests their possible involvement in the patients' chromosomal instability. Interestingly, two of the identified changes in AURKB were found in each member of a couple with antecedents of spontaneous pregnancy loss, a fetal anencephaly and a deaf daughter. One of these changes is described here for the first time. Although further studies are necessary, our results are encouraging enough to propose the analysis of AURKB in couples with reproductive problems.


Assuntos
Proteínas Nucleares/genética , Proteínas Serina-Treonina Quinases/genética , Reprodução/fisiologia , Aurora Quinase B , Aurora Quinases , Proteínas de Ciclo Celular , Instabilidade Cromossômica/genética , Proteínas de Ligação a DNA , Feminino , Humanos , Masculino , Mutação , Gravidez , Reprodução/genética
7.
Food Microbiol ; 30(2): 393-9, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22365352

RESUMO

This paper evaluates the lethal effectiveness on 7 different Salmonella serovars of the application, in static and continuous conditions, of pulsed electric fields (PEF) followed by heat treatments in liquid whole egg (LWE) with additives (EDTA or triethyl citrate-TC-). Compared to heat treatments, the PEF (25 kV/cm and 75-100 kJ/kg) followed by heat (52°C/3.5', 55°C/2', or 60°C/1') in LWE with 2% TC permitted the reduction of heat treatment time from 92 fold at 52°C to 3.4 fold at 60°C, and 4.8 fold at 52°C in LWE with EDTA for a 9-Log(10) reduction of the population of Salmonella Enteritidis. The new designed treatments inactivated more than 5 Log(10) cycles of Salmonella serovars Dublin, Enteritidis 4300, Enteritidis 4396, Typhimurium, Typhi, Senftenberg, and Virchow, both in static and continuous conditions. Conversely, current heat pasteurization treatments of 60°C/3.5' and 64°C/2.5' reduced 5 Log(10) cycles of various serovars of Salmonella but only 2 and 3-4 Log(10) cycles of Salmonella Senftenberg and Salmonella Enteritidis 4396, respectively. Soluble protein content (SPC) decreased 1.8%, 1.3%, and 5.0% after the successive application of PEF followed by heat at 52, 55, and 60°C in the presence of 2% TC, respectively, whereas 1.6% and 9.4% of SPC were reduced after heat pasteurization at 60 and 64°C, respectively. Results indicate that designed treatments could be an alternative to current heat pasteurization of LWE as showed higher lethal effectiveness against Salmonella serovars with a similar or even lower decrement of the soluble protein content.


Assuntos
Ovos/microbiologia , Aditivos Alimentares/farmacologia , Pasteurização/métodos , Salmonella/crescimento & desenvolvimento , Proteínas do Ovo/análise , Ovos/análise , Eletricidade , Temperatura Alta
8.
Gen Comp Endocrinol ; 175(3): 389-97, 2012 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-22134179

RESUMO

Recent, successful application of assisted reproductive technologies in captive beluga has resulted from the extensive study of male beluga reproductive biology. Optimization of assisted reproduction requires additional detailed knowledge of the female estrous cycle. Our specific objectives were to: (1) validate urinary immunoassays for use in this species; (2) elucidate annual ovarian cycle dynamics through the combined use of hormone excretion patterns and transabdominal ultrasound; and (3) establish whether ovulation in this species is spontaneous or induced by male factors. Ovulation was observed in four of 15 estrous cycles monitored in four adult female beluga maintained in a single-sex group. After introduction of a breeding male, ovulation was observed in six of seven estrous cycles. All estrous cycles occurred from March through June. For spontaneous ovulations (n=4), the inter-estrous interval was 34d (range 33-35d), with a follicular phase length (FPL) of 25±8d (mean±SD). For all ovulatory estrous cycles (with and without a breeding male), urinary estrogen conjugates (EC, 15.3±7.9ng/mg Cr) and ovulatory luteinizing hormone (ovLH, 17.1±6.6ng/mg Cr) concentrations both peaked on Day 0, and EC concentrations returned to baseline 8±7d later. For non-conceptive cycles, urinary progestagen (Pg) concentrations increased on Day 0 (3.5±1.7ng/mg Cr), peaked on Day+19 (19.7±17.1ng/mg Cr), and were elevated above baseline for 27±4d. Preovulatory follicular diameter and circumference on Day -2±2 (range: Day -4 to -1) from peak EC were 2.5±0.7 and 7.8±1.3cm, respectively. The FPL in non-ovulatory estrous cycles (n=11) lasted 24±10d and EC concentrations gradually declined to baseline over a 21±10d interval following the EC peak (27.8±28.8ng/mg Cr). Non-ovulatory estrous cycles were characterized by the absence of an ovLH surge and no concomitant increase in Pg concentrations above baseline excretion; the mean follicular diameter at or near peak EC was 3.1±0.8cm on Day 2 ±3d from peak EC (range: -1 to +5days from peak EC). Overall, these data confirm that captive beluga exhibit reproductive seasonality and demonstrate that the species is a facultative-induced ovulator.


Assuntos
Beluga/fisiologia , Ciclo Estral/fisiologia , Hormônios Esteroides Gonadais/urina , Ovário/diagnóstico por imagem , Ovulação/fisiologia , Comportamento Sexual Animal/fisiologia , Animais , Estrogênios/urina , Feminino , Imunoensaio , Hormônio Luteinizante/urina , Masculino , Progestinas/urina , Prolactina/urina , Reprodutibilidade dos Testes , Ultrassonografia
9.
Cytogenet Genome Res ; 135(2): 93-101, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21934280

RESUMO

Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication syndrome in males characterized by severe mental retardation, absence of speech development, infantile hypotonia, progressive spasticity, recurrent infections, and facial dysmorphism. Female carriers of a heterozygous duplication show a skewed X-inactivation pattern which is the most probable cause of the lack of clinical symptoms. In this paper, we describe a girl with a complex de novo copy number gain at Xq28 and non-skewed X-inactivation pattern that causes mental retardation and motor and language delay. This rearrangement implies triplication of the MECP2 and IRAK1 genes, but it does not span other proximal genes located in the common minimal region of patients affected by the MECP2 duplication syndrome. We conclude that the triplication leads to a severe phenotype due to random X-inactivation, while the preferential X chromosome inactivation in healthy carriers may be caused by a negative selection effect of the duplication on some proximal genes like ARD1A or HCFC1.


Assuntos
Duplicação Gênica , Deficiência Intelectual Ligada ao Cromossomo X/genética , Proteína 2 de Ligação a Metil-CpG/genética , Inativação do Cromossomo X , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Criança , Deficiências do Desenvolvimento/patologia , Face/anormalidades , Feminino , Humanos , Hibridização in Situ Fluorescente , Síndrome
10.
Int J Food Microbiol ; 151(1): 29-35, 2011 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-21880388

RESUMO

The influence of temperature and the presence of N(α)-lauroyl ethylester (ethyl lauroyl arginate, LAE) on the inactivation caused by continuous pulsed electric field treatments (PEF) in Escherichia coli O157:H7 suspended in apple juice have been investigated to define treatment conditions applicable at industrial scale that promote an equivalent safety level when compared with thermal processing. In the range of experimental conditions investigated (outlet temperature: 20-40 °C, electric field strength: 20-30 kV, treatment time: 5-125 µs) at outlet temperatures equal or lower than 55±1 °C, the inactivation of E. coli O157:H7 treated in apple juice ranged from 0.4 to 3.6 Log10 cycles reduction and treated in apple juice supplemented with LAE (50 ppm) ranged from 0.9 to 6.7 Log10 cycles reduction. An empirical mathematical model was developed to estimate the treatment time and total specific energy input to obtain 5 Log10 cycles reduction in the population of E. coli O157:H7 suspended in apple juice supplemented with 50 ppm of LAE at different electric field strengths and inlet temperatures. Treatment conditions established for E. coli O157:H7 were validated with other PEF resistant Gram-positive (Listeria monocytogenes, and Staphylococcus aureus) and Gram-negative (Salmonella enterica serovar Typhimurium) strains. When the treatment was applied to the apple juice, a treatment of 25 kV/cm for 63 µs corresponding with an outlet temperature of 65 °C and input energy of 125 kJ/kg was required to achieve more than 5 Log10 cycles in the four strains investigated. The addition of LAE reduced the treatment time required to obtain an equivalent inactivation (>5 Log10 cycles) in the four microorganisms to 38.4 µs, the outlet temperature to 55 °C, and the input energy to 83.2 kJ/kg.


Assuntos
Bebidas , Escherichia coli O157/crescimento & desenvolvimento , Contaminação de Alimentos/prevenção & controle , Pasteurização , Arginina/análogos & derivados , Contagem de Colônia Microbiana , Eletricidade , Microbiologia de Alimentos , Listeria monocytogenes/crescimento & desenvolvimento , Malus , Viabilidade Microbiana , Modelos Teóricos , Salmonella typhimurium/crescimento & desenvolvimento , Staphylococcus aureus/crescimento & desenvolvimento , Temperatura
11.
Int J Food Microbiol ; 145(2-3): 476-82, 2011 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-21329997

RESUMO

This paper is an evaluation of the lethal effectiveness of a successive application of pulsed electric fields (PEFs) and heat treatment in liquid whole egg (LWE) in the presence of different additives on the population of Salmonella serovar Enteritidis. Synergistic reductions of the Salmonella Enteritidis population were observed when LWE samples containing additives were treated with PEF (25 kV/cm; 100 and 200 kJ/kg), heat (55 °C), or PEF followed by heat. The presence of additives, such as 10 mM EDTA or 2% triethyl citrate, increased the PEF lethality 1 log10 cycle and generated around 1.5 log10 cycles of cell damage, resulting in the reduction of undamaged cells of 4.4 and 3.1 log10 cycles, respectively. The application of PEF followed by heat treatment significantly (p < 0.05) reduced D(55 ºC) from 3.9 ± 0.2 min in LWE to 1.40 ± 0.06 min or 0.24 ± 0.02 min in the presence of 10 mM EDTA or 2% triethyl citrate, respectively. A PEF treatment of 25 kV/cm and 200 kJ/kg followed by a heat treatment of 55 °C and 2 min reduced more than 8 log10 cycles of the population of Salmonella Enteritidis in LWE combined with 2% triethyl citrate, with a minimal impact on its protein soluble content. The heat sensitizing effect of PEF treatments in the presence of 2% triethyl citrate on the Salmonella population could enable LWE producers to reduce the temperature or processing time of thermal treatments (current standards are 60 °C for 3.5 min in the United States), increasing the level of Salmonella inactivation and retaining the quality of non-treated LWE.


Assuntos
Ovos/microbiologia , Eletricidade , Microbiologia de Alimentos/métodos , Conservação de Alimentos/métodos , Temperatura Alta , Salmonella enteritidis/crescimento & desenvolvimento , Citratos/farmacologia , Contagem de Colônia Microbiana , Intoxicação Alimentar por Salmonella/prevenção & controle , Salmonella enteritidis/efeitos dos fármacos
12.
Cytogenet Genome Res ; 133(1): 78-83, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21228546

RESUMO

Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large duplication on chromosome 18 that involves the proposed distal CR. The lack of clinical features is remarkable, except for pathological semen analysis, which suggests that terminal 17.4 Mb of 18q do not contain the Edwards Syndrome CR. Alternatively, unknown modifier factors or undetected somatic mosaicism might cause incomplete penetrance of this duplication.


Assuntos
Astenozoospermia/genética , Duplicação Cromossômica , Cromossomos Humanos Par 18 , Oligospermia/genética , Adulto , Astenozoospermia/complicações , Humanos , Masculino , Oligospermia/complicações , Fenótipo
13.
Food Microbiol ; 27(7): 845-52, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20688225

RESUMO

This investigation evaluated the lethal efficiency of pulsed electric fields (PEFs) to pasteurize liquid whole egg (LWE). To achieve this aim, we describe the inactivation of Salmonella Enteritidis and the heat resistant Salmonella Senftenberg 775 W in terms of treatment time and specific energy at electric field strengths ranging from 20 to 45 kV/cm. Based on our results, the target microorganism for this technology in LWE varied with intensity of the PEF treatment. For electric field strengths greater than 25 kV/cm, Salmonella Enteritidis was the most PEF-resistant strain. For this Salmonella serovar the level of inactivation depended only on the specific energy applied: i.e., 106, 272, and 472 kJ/kg for 1, 2, and 3 Log(10) reductions, respectively. The developed mathematical equations based on the Weibull distribution permit estimations of maximum inactivation level of 1.9 Log(10) cycles of the target Salmonella serovar in the best-case scenario: 250 kJ/kg and 25 kV/cm. This level of inactivation indicates that PEF technology by itself cannot guarantee the security of LWE based on USDA and European regulations. The occurrence of cell damage due to PEF in the Salmonella population opens the possibility of designing combined processes enabling increased microbial lethality in LWE.


Assuntos
Ovos/microbiologia , Estimulação Elétrica , Conservação de Alimentos/métodos , Intoxicação Alimentar por Salmonella/prevenção & controle , Salmonella enteritidis/crescimento & desenvolvimento , Animais , Galinhas , Contagem de Colônia Microbiana , Indústria de Processamento de Alimentos/métodos , Indústria de Processamento de Alimentos/normas , Humanos , Salmonella , Fatores de Tempo
14.
Theriogenology ; 73(1): 112-9, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19853902

RESUMO

White-tailed deer oocyte biology is not well documented. The objective of this study was to determine (1) the influence of estradiol (E(2)) supplementation on meiotic resumption and the ability to "rescue" poorer quality (lower grade) oocytes and (2) the kinetics of oocyte nuclear maturation in vitro in the white-tailed deer. In Experiment 1, immature oocytes harvested during hunting-culling operations were cultured for 24h in the presence or absence of E(2). Incubation in 1mug/mL E(2) promoted nuclear maturation (to telophase I, TI; or to metaphase II, MII) in a higher proportion of Grade 1 oocytes ( approximately 77%; P<0.05) compared with that in Grade 2 or Grade 3 counterparts ( approximately 51%). For Grades 2 and 3 oocytes, there was no advantage (P>0.05) for E(2) supplementation in reaching TI/MII. In Experiment 2, Grade 1 oocytes were cultured in the presence of E(2) and nuclear status evaluated at 0, 3, 6, 12, and 24h of in vitro incubation. At 0h,>70% of oocytes already had undergone germinal vesicle breakdown. After 12h, approximately 70% of oocytes had reached metaphase I of nuclear maturation, with approximately 75% achieving TI/MII by 24h in vitro. In summary, adding E(2) to an in vitro maturation (IVM) culture system for white-tailed deer was advantageous, but only for the highest quality oocytes, with approximately 75% achieving nuclear maturation. In contrast, E(2) supplement did not benefit lower-grade oocytes, half of which will reach MII, with the other half failing. Under the described culture conditions, good-quality white-tailed deer oocytes achieve nuclear maturation over a time duration comparable with that reported in other ungulates.


Assuntos
Cervos/fisiologia , Estradiol/farmacologia , Estrogênios/farmacologia , Oócitos/crescimento & desenvolvimento , Animais , Técnicas de Cultura de Células , Feminino , Cinética , Oócitos/efeitos dos fármacos , Ovário/anatomia & histologia , Ovário/citologia
15.
Gen Comp Endocrinol ; 166(2): 365-71, 2010 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-20036667

RESUMO

Despite the importance of the western white-bearded wildebeest (Connochaetes taurinus mearnsi) to the Serengeti-Mara ecosystem, surprisingly little is known about the reproductive physiology of this keystone species. A longitudinal, non-invasive endocrine study was conducted on female wildebeest captured from the Serengeti-Mara migration and maintained for approximately 16 months in large fenced enclosures within the species' natural range. An intact bull was introduced to a female subgroup (n=5), while remaining females (n=10) were unexposed to a male. Fecal progestagen patterns reflected ovarian activity and pregnancy. In non-pregnant animals, luteal and inter-luteal baseline progestagen values differed (p<0.001) over time, thereby allowing identification of recurrent estrous cycles. The average durations of the luteal phase, estrous cycle, gestation, and post-partum anestrus were 14.3+/-0.5, 22.6+/-1.0, 240.8+/-11.7, and 104.1+/-15.6 d, respectively. Annual reproductive patterns indicated a distinctive period of ovarian activity that extended from 13 May through 3 December (203.5+/-29.9 d) with all unmated females displaying from one to 14 estrous cycles. Progestagens were higher (p <0.001) in pregnant (n=4) than non-pregnant (n=10) cows. These data (1) reveal the value of fecal hormone monitoring for establishing the first ever endocrine profiles of female wildebeest in semi-free-living conditions in their native range, and (2) indicate that the species is a seasonal breeder that is polyestrous and a spontaneous ovulator.


Assuntos
Ciclo Estral/metabolismo , Progestinas/metabolismo , Reprodução/fisiologia , Ruminantes/metabolismo , Animais , Cruzamento , Ecossistema , Fezes/química , Feminino , Quênia , Lactação , Fase Luteal/metabolismo , Masculino , Parto , Gravidez , Progestinas/análise , Estações do Ano , Tanzânia
16.
Reprod Biomed Online ; 19(3): 415-7, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19778489

RESUMO

This report describes a case of mosaic Down syndrome due to an unusual karyotype in a patient conceived by assisted reproductive techniques and cryopreservation. The chromosomal complement consists of two different cell lines, one predominantly trisomic with a derivative chromosome due to a Robertsonian translocation (21;21) and another carrying a ring chromosome 21. The present work analyses the different mechanisms that could have led to mosaicism.


Assuntos
Cromossomos Humanos Par 21 , Criopreservação , Síndrome de Down/diagnóstico , Embrião de Mamíferos , Fertilização in vitro , Translocação Genética , Síndrome de Down/etiologia , Síndrome de Down/genética , Fertilização/fisiologia , Fertilização in vitro/efeitos adversos , Humanos , Masculino , Mosaicismo , Cromossomos em Anel , Translocação Genética/genética
17.
Cytogenet Genome Res ; 125(2): 103-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19729912

RESUMO

Chromosomal rearrangements in the short arm of chromosome 4 can result in 2 different clinical entities: Wolf-Hirschhorn syndrome (WHS), characterized by severe growth delay, mental retardation, microcephaly, 'Greek helmet' facies, and closure defects, or partial 4p trisomy, associated with multiple congenital anomalies, mental retardation, and facial dysmorphisms. We present clinical and laboratory findings in a patient who showed a small duplication in 4p16.3 associated with a subtle terminal deletion in the same chromosomal region. GTG-banding analyses, multiplex ligation-dependent probe amplification analyses, and studies by array-based comparative genomic hybridization were performed. The results of the analyses revealed a de novo 1.3 Mb deletion of the terminal 4p and a 1.1 Mb duplication in our patient, encompassing the WHS critical region. Interestingly, this unusual duplication/deletion rearrangement results in an intermediate phenotype that shares characteristics of the WHS and the 4p trisomy syndrome. The use of novel technologies in the genetic diagnosis leads to the description of new clinical syndromes; there is a growing list of microduplication syndromes. Therefore, we propose that overexpression of candidate genes in WHS (WHSC1, WHSC2 and LETM1) due to a duplication causes a clinical entity different to both the WHS and 4p trisomy syndrome.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 4 , Duplicação Gênica , Trissomia , Síndrome de Wolf-Hirschhorn/genética , Proteínas de Ligação ao Cálcio/genética , Criança , Hibridização Genômica Comparativa , Histona-Lisina N-Metiltransferase/genética , Humanos , Masculino , Proteínas de Membrana/genética , Fenótipo , Proteínas Repressoras/genética , Fatores de Elongação da Transcrição/genética
18.
Cytogenet Genome Res ; 127(1): 5-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20110648

RESUMO

Submicroscopic deletions of 1q44-qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus callosum abnormalities. The first deleted oligonucleotide was located at 242.638 Mb (within the ADSS gene), and the last deleted oligonucleotide at 243.791 Mb (within the KIF26B gene). The clinical and molecular findings of the patient here reported remain consistent with a role for the AKT3 or ZNF238 genes in corpus callosum development.


Assuntos
Agenesia do Corpo Caloso , Deleção Cromossômica , Cromossomos Humanos Par 1 , Criança , Corpo Caloso/metabolismo , Humanos , Imageamento por Ressonância Magnética , Masculino
19.
BMJ Case Rep ; 20092009.
Artigo em Inglês | MEDLINE | ID: mdl-21731584

RESUMO

Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. In this paper we present a new WBCR microduplication case, which supports the wide variability displayed by this duplication in the phenotype. The WBCR microduplication may be associated with autistic spectrum disorder, but most reported cases do not show this behavioural disorder, or may even show a hypersociable personality, as with our patient. From the present case and a review of the 12 previously described, we conclude that the phenotype associated with duplication of WBCR can affect the same domains as WBCR deletion, but that they cluster near the polar ends of social relationship (autism-like v hypersociability), language (expressive language impairment v "cocktail party" speech), visuospatial (severe v normal), mental retardation (severe v mild) and dysmorphic (severe v mild) features.

20.
J Med Genet ; 45(7): 432-7, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18413373

RESUMO

BACKGROUND: Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from 1 kb to several megabases. Array based comparative genomic hybridisation (array-CGH) allows detection of an increasing number of genomic alterations. METHODS: A series of 46 patients with mental retardation and congenital abnormalities (previously screened for subtelomeric rearrangements) were evaluated for cryptic chromosomal imbalances by array-CGH. This array contains 6465 large-insert BAC/PAC clones, representing sequences uniformly distributed throughout the human genome. The results were confirmed by alternative techniques. RESULTS: Four pathogenic rearrangements were detected: two of them were novel, a deletion at 2q31.2 and a duplication at 8q12 band; the other two have been previously reported--a duplication of the Williams-Beuren region and a deletion of 3q29. By adding the subtelomeric alterations previously identified, a total rate of 18% of pathogenic rearrangements was found in the series. CONCLUSION: Based on our results, ZNF533 is the only gene contained in the overlapping region with other deletions at 2q31.2, and it is most probably the fourth zinc-finger gene implied in mental retardation. On the other hand, we propose that the CHD7 gene, associated with CHARGE syndrome by haploinsufficiency, causes a different phenotype by gain-of-dosage.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Deficiência Intelectual/genética , Dedos de Zinco/genética , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos , DNA/química , DNA/genética , Feminino , Deleção de Genes , Dosagem de Genes , Rearranjo Gênico , Humanos , Masculino , Hibridização de Ácido Nucleico/métodos , Análise de Sequência com Séries de Oligonucleotídeos
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