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1.
Arthrosc Tech ; 10(7): e1737-e1742, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34336572

RESUMO

The indications for and techniques to accomplish revision rotator cuff repair continue to be challenging problems that surgeons face. Complexity of tears, poor tissue quality, retained hardware, and adhesions are routinely encountered during surgical intervention for failed rotator cuff repairs. A successful outcome for any revision rotator cuff repair is determined, in part, by the surgeon's ability to address these intraoperative issues in an optimum manner. The surgical technique described in this article outlines a comprehensive and stepwise approach that can aid the surgeon in developing an effective strategy to accomplish revision rotator cuff repair.

2.
Psychiatr Psychol Law ; 25(1): 1-18, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-31984003

RESUMO

The current study investigated the relationships between empathy (emotional and cognitive), emotional intelligence, psychopathy, emotional contagion, and non-conscious behavioural mimicry (smiles and hand scratches), using self-report scales and a script-based interview session exhibiting nine non-verbal gestures, on a student sample. Past findings suggest a deficit of emotional but not cognitive empathy in psychopaths. Empirical research on non-conscious behavioural mimicry in psychopathy with reference to emotional intelligence is somewhat scarce; however it was proposed that individuals high in psychopathic traits would show reduced emotional mimicry based on the relation of empathy to mimicry. The study was quasi-experimental, involving individual assessment of 51 participants. Results suggest decreased emotional empathy at high levels of psychopathy and show that emotional intelligence moderates the relationship between psychopathy and non-conscious mimicry (smiles per minute). Social competence might be more predictive of effects of psychopathy on non-conscious mimicry.

4.
Eur J Clin Microbiol Infect Dis ; 34(3): 619-23, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25381607

RESUMO

Perinatal transmission is the most common mode of hepatitis B virus (HBV) transmission and is a leading cause of chronic infection worldwide. Maternal treatment with lamivudine (LAM) can result in a rapid and significant reduction in HBV viral load (VL) and, thus, mitigate the risk of mother-to-child transmission (MTCT). The aim of this study was to retrospectively evaluate the safety of LAM treatment administered in the third trimester of pregnancy and determine the influence, if any, on infant outcome. The medical charts of all HBV surface antigen (HBsAg)-positive women eligible for treatment with LAM and who registered for antenatal care between 2007 and 2012 were retrospectively reviewed. During the 6-year period, 45 women met the criteria for LAM treatment. Thirty-six women (80 %) accepted treatment; the remaining women declined treatment (5), defaulted from care (3) or transferred to another maternity unit (1). The median duration of treatment was 11.4 weeks (range 5.3-17.4) and the median baseline VL was 1.4 × 10(8) IU/mL (range 1.8 × 10(7)-1.7 × 10(8)). The median VL at delivery was 2.3 × 10(5) IU/mL and 60 % of women achieved a VL reduction >2 log10 IU/mL before delivery. No cases of perinatal transmission occurred in the infants born to mothers who received treatment; however, one infant, born to a mother who defaulted from care, was HBV-infected at 8 months. The results suggest that LAM therapy in highly viraemic HBV-infected pregnant women could lower the rate of vertical transmission.


Assuntos
Antivirais/uso terapêutico , Hepatite B Crônica/tratamento farmacológico , Hepatite B Crônica/prevenção & controle , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Lamivudina/uso terapêutico , Complicações Infecciosas na Gravidez/tratamento farmacológico , Carga Viral , Adolescente , Adulto , Antivirais/efeitos adversos , Feminino , Hepatite B Crônica/virologia , Humanos , Lamivudina/efeitos adversos , Gravidez , Complicações Infecciosas na Gravidez/virologia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
5.
Rev Sci Instrum ; 83(10): 10D729, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23126901

RESUMO

Electromagnetic interference (EMI) is an ever-present challenge at laser facilities such as the National Ignition Facility (NIF). The major source of EMI at such facilities is laser-target interaction that can generate intense electromagnetic fields within, and outside of, the laser target chamber. In addition, the diagnostics themselves can be a source of EMI, even interfering with themselves. In this paper we describe EMI generated by ARIANE and DIXI, present measurements, and discuss effects of the diagnostic-generated EMI on ARIANE's CCD and on a PMT nearby DIXI. Finally we present some of the efforts we have made to mitigate the effects of diagnostic-generated EMI on NIF diagnostics.

6.
Health Educ Res ; 27(4): 755-65, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21926065

RESUMO

We designed, implemented and evaluated a 48-hour training program for community health workers (CHWs) deployed to diabetes care teams in community health centers (CHCs). The curriculum included core knowledge/skills with diabetes content to assist CHWs in developing patient self-management goals. Our qualitative evaluation included pre/post-knowledge outcomes and encounter data from the field. CHWs and their supervisors were interviewed providing qualitative outcome data of the training process and program implementation. There were statistically significant increases in the scores of CHWs' self-reported knowledge in 8 of 15 curricular domains. Qualitative analysis revealed that CHWs preferred skill-based and case-based teaching, shorter training days but more contact hours. CHWs reported that pre-deployment training alone is insufficient for successful integration into care teams. CHW supervisors reported that CHC's readiness to accept CHWs as members of the care team was as important to successful deployment as training. With respect to implementation, supervision by social workers was deemed more successful than nursing supervision. Field data showed that patient encounters lasted less than 30 min and self-management goals focused on appointment keeping, diet, exercise and glucose testing. Integration and analysis of qualitative and descriptive field data provide an opportunity to continuously evaluate the effectiveness of implementation.


Assuntos
Agentes Comunitários de Saúde/educação , Diabetes Mellitus/terapia , Equipe de Assistência ao Paciente , Centros Comunitários de Saúde , Currículo , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Relações Interprofissionais , Massachusetts , Relações Profissional-Paciente , Pesquisa Qualitativa , Autocuidado , Desenvolvimento de Pessoal
7.
Ir J Med Sci ; 180(4): 807-11, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21660651

RESUMO

BACKGROUND: The overall seroprevalence of toxoplasma antibodies in women of childbearing age in Ireland is 25% [1]. Hence, 75% of women remain susceptible to primary toxoplasma infection during pregnancy, which if transmitted to the foetus can cause ocular, neurological and other sequelae. Toxoplasma exposure during pregnancy can be avoided if there is an awareness of the potential sources of infection, mainly contaminated food, water, soil and cat faeces. AIMS: To determine risk factor exposure in a cohort of women with congenitally infected infants and to assess maternal risk awareness prior to diagnosis of infection. METHODS: Data, prospectively gathered during 2 years of pilot newborn screening for congenital toxoplasmosis in Ireland, was retrospectively analysed. Known risk factors for acquisition of infection were identified. Women were questioned regarding risk awareness and implementation of avoidance measures, if any, during pregnancy. RESULTS: Fifteen congenitally infected infants were identified by newborn screening. Seventy-three percent of their mothers (11/15) reported lack of knowledge concerning risk factors for toxoplasma infection or its potential threat to the foetus. Ingestion of raw or undercooked meat during pregnancy was the predominant source of toxoplasma cyst exposure identified. Contact with cats was reported in just one case. CONCLUSIONS: Most women were uneducated about the risks posed by Toxoplasma gondii exposure during pregnancy. There is a clear need for better educational programmes regarding primary prevention of congenital toxoplasmosis if neonatal infection is to be avoided.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Complicações Infecciosas na Gravidez/etiologia , Toxoplasmose Congênita/parasitologia , Toxoplasmose/etiologia , Adulto , Feminino , Humanos , Gravidez , Complicações Infecciosas na Gravidez/prevenção & controle , Estudos Retrospectivos , Fatores de Risco , Toxoplasmose/prevenção & controle , Toxoplasmose Congênita/prevenção & controle , Adulto Jovem
8.
Ir Med J ; 101(7): 220-1, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18807815

RESUMO

Congenital toxoplasmosis (CT) arises as a result of new acquisition of Toxoplasma infection by a susceptible woman during pregnancy. Early detection of CT through neonatal screening programmes could optimize management and improve infant outcome. This study sought to estimate the prevalence of Toxoplasma susceptibility in pregnant women. As detection of Toxoplasma antibodies in neonatal blood reflects maternal exposure history, maternal antibody seroprevalence was determined using anonymized residual blood from newborn screening cards. A total of 20,252 cards were tested in 1 year. 4,991 (24.6%) cards tested positive for Toxoplasma antibody. Results were stratified by county. Toxoplasma antibody seroprevalence rates of 25% indicated that Toxoplasma infection is common in Ireland and that up to 75% of women remain susceptible to primary infection during pregnancy. This study aimed to a) determine the seroprevalence of Toxoplasma antibody in pregnant women, and hence b) estimate the risk for acquisition of primary toxoplasmosis in pregnancy in order to support an application to fund a pilot newborn screening programme.


Assuntos
Suscetibilidade a Doenças , Triagem Neonatal , Toxoplasmose Congênita/diagnóstico , Feminino , Humanos , Recém-Nascido , Irlanda/epidemiologia , Gravidez , Fatores de Risco , Estudos Soroepidemiológicos , Toxoplasmose Congênita/sangue , Toxoplasmose Congênita/epidemiologia
9.
J S Afr Vet Assoc ; 79(1): 25-30, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18678188

RESUMO

Captive and wild African elephants frequently suffer tusk fractures. Several institutions shorten the tusks of captive elephants to reduce fractures and injury as a result of behaviour within enclosures. Fracturing or coronal amputations that expose pulp lead to pain for the elephant. Estimating coronal pulp lengths may thus help to minimise the risk of pulp exposure during amputations. We aimed to determine the length of the pulp beyond the lip margin from an external tusk characteristic. Tusks collected from elephants in Namibia and the Kruger National Park had similar morphological relationships. This statistical property allowed us to correct for missing data in our data sets. Pulp volume and pulp length correlated with tusk circumference at the lip. Even so, the circumference at the lip could not predict the length of the pulp in the crown external to the lip. Our findings suggest that tusks, irrespective of sex or age, amputated further than 300 mm from the lip should not expose pulp.


Assuntos
Polpa Dentária/anatomia & histologia , Polpa Dentária/inervação , Elefantes , Fraturas dos Dentes/veterinária , Dente/anatomia & histologia , Fatores Etários , Animais , Animais Selvagens , Animais de Zoológico , Elefantes/anatomia & histologia , Feminino , Masculino , Fatores Sexuais , Dente/inervação , Fraturas dos Dentes/epidemiologia , Fraturas dos Dentes/prevenção & controle
10.
J Clin Microbiol ; 45(4): 1288-97, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17314225

RESUMO

We have adapted our established Alu PCR assay for proviral DNA and PCR for total cellular DNA to a real-time PCR format and applied these to human immunodeficiency virus (HIV)-positive specimens collected for routine determination of the plasma viral load (pVL). In a cohort of five patients, measurements of integrated viral load (iVL) and cell-associated viral load (cVL) in CD4(+) cells isolated by a single positive selection step were not indicative of HIV DNA levels in the circulation, and further analysis was performed on peripheral blood mononuclear cells (PBMC). In a cohort of 46 samples total cVL was quantitated in most samples, but iVL could be quantitated in only 47.8%, since in 26% iVL was undetectable and in 21.7% the results were invalid due to high levels of unintegrated HIV DNA. There was no correlation of cVL or iVL with pVL, CD4 count, or duration of successful antiretroviral treatment. Out of 26 patients with undetectable pVL, 4 patients failed therapy within the subsequent 12 months and had higher than average iVL, but this was not the case for cVL. Among nine patients with long-term undetectable pVL, no consistent decline in cVL or iVL was seen with time, and changes in cVL and iVL within a patient could be concordant or discordant. These results show that cVL and iVL can be coordinately measured in PBMC from clinical samples but do not correlate with pVL, CD4 counts, or length of suppressive antiretroviral therapy. Interestingly, a high iVL (but not a high cVL) in patients with undetectable pVL was associated with subsequent treatment failure.


Assuntos
DNA Viral/análise , DNA Viral/genética , Infecções por HIV/virologia , HIV-1/genética , Provírus/genética , Integração Viral , Fármacos Anti-HIV/farmacologia , Fármacos Anti-HIV/uso terapêutico , Sangue/virologia , Contagem de Linfócito CD4 , Linfócitos T CD4-Positivos/virologia , Infecções por HIV/tratamento farmacológico , Humanos , Leucócitos Mononucleares/virologia , Reação em Cadeia da Polimerase/métodos , Prognóstico , Carga Viral/métodos , Viremia
12.
J Pediatr Hematol Oncol ; 23(6): 340-8, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11563767

RESUMO

PURPOSE: Relapse remains a significant problem in patients with metastatic osteosarcoma. The response to carboplatin of patients with newly diagnosed metastatic or unresectable osteosarcoma was assessed in an upfront phase II window, which was followed-up by surgery and intensive multiagent chemotherapy. PATIENTS AND METHODS: Thirty-seven patients, ages 3 to 23 years with histologically confirmed diagnoses of osteosarcoma, were treated between January 1992 and November 1994 with carboplatin 1,000 mg/m2 per dose administered as a 48-hour continuous infusion. Two courses were administered in 3-week intervals, depending on marrow recovery. After radiographic reevaluation, patients underwent surgical removal of tumor (if feasible) and then 40 weeks of chemotherapy with high-dose methotrexate, ifosfamide, doxorubicin, and cisplatin. RESULTS: One of the 37 evaluable patients demonstrated a partial response to carboplatin; there were no complete responses. Patients were additionally analyzed by the response of pulmonary metastases to therapy and the extent of tumor necrosis of the primary lesion. By these criteria, 8 of 37 (22%) of patients showed a response at one or more sites, whereas 20 of 37 (54%) had unequivocal disease progression. Severe myelosuppression was the major toxicity. The projected 3-year event-free and overall survival rates were 23.9% and 31.9%, respectively. Only 1 of 17 patients with unresectable disease or distant bone metastases remains alive, in contrast to 6 of 17 patients with the lung as their only metastatic site and two of three patients with resected regional bone metastases. CONCLUSIONS: Continuous-infusion carboplatin demonstrated limited activity as an upfront agent in patients with metastatic osteosarcoma at diagnosis, even at doses that result in severe and prolonged myelosuppression. Patients with isolated pulmonary metastases or resectable bone metastases have a longer median survival time and greater chance of long-term survival than do patients with unresectable bone disease, for whom the prognosis remains dismal.


Assuntos
Antineoplásicos/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Ósseas/tratamento farmacológico , Carboplatina/administração & dosagem , Osteossarcoma/tratamento farmacológico , Adolescente , Adulto , Antineoplásicos/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Neoplasias Ósseas/secundário , Neoplasias Ósseas/cirurgia , Carboplatina/efeitos adversos , Criança , Pré-Escolar , Cisplatino/administração & dosagem , Cisplatino/efeitos adversos , Terapia Combinada , Doxorrubicina/administração & dosagem , Doxorrubicina/efeitos adversos , Esquema de Medicação , Feminino , Humanos , Ifosfamida/administração & dosagem , Ifosfamida/efeitos adversos , Infusões Intravenosas , Masculino , Metotrexato/administração & dosagem , Metotrexato/efeitos adversos , Osteossarcoma/secundário , Osteossarcoma/cirurgia , Cuidados Pré-Operatórios , Taxa de Sobrevida , Resultado do Tratamento
13.
Clin Radiol ; 56(7): 556-9, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11446753

RESUMO

AIM: The aim of this study was to assess the usefulness of pre-operative sestamibi-technetium subtraction scintigraphy in a large cohort of patients with primary hyperparathyroidism (HPT). MATERIALS AND METHODS: A group of 156 consecutive patients with biochemically proven HPT underwent sestamibi-technetium subtraction scintigraphy before cervical exploration. Images were interpreted and reported prospectively and influenced the extent of surgical exploration. The intraoperative findings were compared retrospectively with the pre-operative scintigram reports in 154 individuals with technically satisfactory scintigrams. RESULTS: Of the 154 patients with satisfactory scintigrams, 122 (78.2%) demonstrated a single focus of activity following subtraction, 31 (19.9%) had negative findings and the remaining scintigram showed four foci of activity. At operation 138 (89.6%) solitary adenomas were removed, 13 patients (8.4%) had multi-gland disease and in three individuals (2.0%) no abnormal parathyroid tissue was found. The pre-operative scintigram accurately localized 91 of 98 (92.9%) solitary tumours weighing > 500 mg but only 18 of 35 (51.4%) adenomas weighing < 500 mg, (P < 0.0001). Overall sensitivity of sestamibi-technetium scintigraphy for localizing single parathyroid adenomas was 83.7%. CONCLUSION: Sestamibi-technetium subtraction scintigraphy will accurately localize a high proportion of solitary parathyroid adenomas but its usefulness is diminished by its inability to consistently identify smaller tumours.


Assuntos
Adenoma/diagnóstico por imagem , Hiperparatireoidismo/diagnóstico por imagem , Neoplasias das Paratireoides/diagnóstico por imagem , Compostos Radiofarmacêuticos , Técnica de Subtração/normas , Tecnécio Tc 99m Sestamibi , Adenoma/complicações , Adenoma/cirurgia , Reações Falso-Positivas , Feminino , Humanos , Hiperparatireoidismo/etiologia , Hiperparatireoidismo/cirurgia , Processamento de Imagem Assistida por Computador/métodos , Masculino , Pessoa de Meia-Idade , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/cirurgia , Paratireoidectomia/métodos , Cuidados Pré-Operatórios/métodos , Estudos Prospectivos , Cintilografia , Estudos Retrospectivos , Sensibilidade e Especificidade , Resultado do Tratamento
14.
Cancer Invest ; 19(3): 292-315, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11338887

RESUMO

A comprehensive multidisciplinary approach has transformed osteosarcoma from a disease with a modest long-term survival to one in which at least two-thirds of patients will be cured. Surgery remains the vital modality for treating the primary tumor, whereas adjuvant chemotherapy plays an essential role in the control of subclinical metastatic disease. Complete surgical excision of the primary tumor remains an essential element of treatment. For many patients, a combination of advances in surgical technique, improved imaging modalities to accurately document tumor extent, and the effect of neoadjuvant chemotherapy has made limb salvage procedures a safe alternative to amputation. In some patients for whom complete surgical excision is impossible, the addition of radiation therapy may allow local tumor control. The most effective chemotherapy agents currently in use include high-dose methotrexate, doxorubicin, cisplatin, and ifosfamide/etoposide. The optimal schedule of therapy is still being investigated, as is the role of dose intensification. Unfortunately, some groups of patients remain at high risk of eventual relapse. Those whose tumors show relatively low degrees of necrosis after administration of chemotherapy have poorer survival than patients with more chemotherapy-responsive tumors. Similarly, patients who present with overt metastatic disease (particularly bone metastases), as well as patients with tumors that recur after treatment, continue to have an unsatisfactory outcome. These groups, in particular, may benefit from future investigations into novel agents, such as biological response modifiers, antiangiogenesis factors, and growth receptor modulation.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Ósseas/tratamento farmacológico , Osteossarcoma/tratamento farmacológico , Adolescente , Adulto , Neoplasias Ósseas/cirurgia , Quimioterapia Adjuvante , Criança , Terapia Combinada , Humanos , Fatores Imunológicos/uso terapêutico , Metástase Neoplásica , Recidiva Local de Neoplasia/terapia , Osteossarcoma/cirurgia , Prognóstico
16.
J Pediatr Surg ; 35(6): 880-3, 2000 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10873030

RESUMO

Infantile fibrosarcoma (IFS) is a rare tumor most often affecting the extremities of infants and young children. Unlike its adult counterpart, IFS has a low potential for metastatic spread, and surgical extirpation alone has therefore resulted in an excellent prognosis. The amputation rate, however, exceeds 50%. The dramatic response in 2 recent cases to preoperative chemotherapy, given in an attempt to avoid amputation, prompted this report and a review of the literature.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Braço , Fibrossarcoma/congênito , Fibrossarcoma/cirurgia , Terapia Combinada , Ciclofosfamida/administração & dosagem , Dactinomicina/administração & dosagem , Fibrossarcoma/tratamento farmacológico , Humanos , Recém-Nascido , Masculino , Vincristina/administração & dosagem
17.
Gut ; 46(3): 405-9, 2000 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10673305

RESUMO

BACKGROUND: C282Y hereditary haemochromatosis is an appropriate condition for population screening. Transferrin saturation, the best screening test to date, is relatively expensive, labour intensive, and cannot be automated. Unsaturated iron binding capacity is a surrogate marker of transferrin saturation and its measurement can be automated. AIMS: To evaluate a screening strategy for C282Y hereditary haemochromatosis in a tertiary hospital environment based on unsaturated iron binding capacity as the initial screening test. METHODS: Measurement of unsaturated iron binding capacity was adapted to the main laboratory analyser. An unsaturated iron binding capacity of less than 30 micromol/l was identified as an appropriate decision point and 5182 consecutive subjects were screened over 28 consecutive days. RESULTS: Of those screened, 697 had an unsaturated iron binding capacity less than 30 micromol/l. Of these, transferrin saturation was greater than 40% in 294. A total of 227 were able to be genotyped for the C282Y mutation. Nine subjects homozygous for C282Y were identified. Based on full cost recovery, affected persons were identified at a cost of Aus$2268.77 per case (approximately US$1496). CONCLUSION: Automated measurement of unsaturated iron binding capacity enables a cost effective, large scale population screening programme for C282Y hereditary haemochromatosis to be developed.


Assuntos
Testes Genéticos/métodos , Hemocromatose/diagnóstico , Ferro/metabolismo , Transferrina/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise Custo-Benefício , Estudos de Avaliação como Assunto , Feminino , Marcadores Genéticos , Testes Genéticos/economia , Genótipo , Hemocromatose/genética , Hemocromatose/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade
19.
Cancer Genet Cytogenet ; 115(2): 106-13, 1999 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-10598142

RESUMO

The myelodysplastic syndromes (MDS) are a group of hematologic disorders commonly affecting elderly persons and often leading to acute myelogenous leukemia (AML). Although rare in children, when MDS does occur, it is frequently part of a congenital disorder such as Shwachman-Diamond syndrome (SDS). Monosomy 7 and/or deletion of part or all of 7q are poor prognostic signs in MDS and AML, although the pathophysiologic relationship between this finding and MDS or AML is unclear. Shwachman-Diamond syndrome is an inherited illness characterized by exocrine pancreatic insufficiency and by congenital neutropenia. Patients with SDS are at increased risk of developing myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). Because monosomy 7 is a poor prognostic sign in MDS and AML, establishing its presence is important. However, different methods of detection of monosomy 7 may lead to different results in some patients. We present the case of a 10-year-old girl known to have SDS, who had a bone marrow aspiration and biopsy done to rule out MDS and AML. By light microscopy, the patient's bone marrow was unremarkable. GTG-banding showed the following karyotype: 45,XX,-C[3]/47,XX,+C[1]/46,XX[45]. Fluorescence in situ hybridization (FISH) was performed with a chromosome 7-specific alpha-satellite probe (D7Z1). Almost all (373 of 376) cells exhibited only one chromosome 7 signal. A second marrow aspiration done 6 months later showed an essentially normal karyotype by GTG-banding. Fluorescence in situ hybridization with the same chromosome 7 probe showed 230 of 250 cells to be monosomic for chromosome 7. A whole chromosome 7 painting probe demonstrated disomy for chromosome 7 in 90 of 90 cells; however, subtle heteromorphism in the centromeric regions of the 2 copies of chromosome 7 was noted in some cells. This case demonstrates that FISH and GTG-banding can give discordant results, that the two should be viewed as complementary technologies, and that both have a place in a full karyotypic analysis. Furthermore, this case demonstrates for the first time that heteromorphism and/or subtle structural abnormalities of chromosome 7, previously associated with MDS and AML, can exist without clinical or morphologic signs of these illnesses. It will be of interest to further study the relationship, if any, between SDS and various structural abnormalities of chromosome 7 in MDS and AML, and to elucidate the molecular mechanisms of pathogenesis, physiology, and treatment of these disorders.


Assuntos
Cromossomos Humanos Par 7 , Insuficiência Pancreática Exócrina/genética , Leucemia Mieloide Aguda/genética , Monossomia , Síndromes Mielodisplásicas/genética , Medula Óssea/patologia , Bandeamento Cromossômico/métodos , Insuficiência Pancreática Exócrina/tratamento farmacológico , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Cariotipagem
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