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2.
J Evol Biol ; 31(3): 446-456, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29336511

RESUMO

The evolution of brood parasitism should affect adult phenotypic traits due to sexual selection as well as the parasite-host interactions, although it is rarely focused on. Sexual selection theory predicts extravagant secondary sexual characteristics in brood parasites whereas immature-like modest sexual characteristics in parental species. This is because juvenile-like immature traits can attract mates by exploiting parental care for young (i.e. attraction to young), and because the good parent process, which favours traits that signal parental care ability, would constrain the evolution of costly secondary sexual characteristics due to evolutionary trade-offs between parental investment and sexually selected traits. Using a phylogenetic comparative approach, we studied plumage and bare-part characteristics of adults in relation to brood parasitism in cuckoos (family Cuculidae), in which brood parasitism together with loss of parental care has evolved three times. As predicted, we found that nonparasitic cuckoos had plumage more similar to the juveniles than did brood parasitic cuckoos. Furthermore, nonparasitic cuckoos had a higher probability of having additional bare skin, that is a seemingly less costly, hatchling-like trait, than did brood parasitic cuckoos. This finding further supports the link between parental care and sexual selection, although the influence of a parasite-host interaction cannot be excluded. The analysis of evolutionary pathways suggested interdependent evolution of additional bare skin and brood parasitism. Brood parasitism together with the loss of parental care may prevent the maintenance of a modest phenotype similar to the young, and vice versa in some cases.


Assuntos
Evolução Biológica , Aves , Plumas , Comportamento de Nidação , Fenótipo , Animais , Feminino , Masculino , Preferência de Acasalamento Animal
3.
Sci Rep ; 5: 9432, 2015 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-25838205

RESUMO

A number of studies have assessed or modeled the distribution of the radionuclides released by the accident at the Fukushima-Daiichi Nuclear Power Plant (FDNPP). Few studies however have investigated its consequences for the local biota. We tested whether exposure of barn swallow (Hirundo rustica) nestlings to low dose ionizing radiation increased genetic damage to their peripheral erythrocytes. We estimated external radiation exposure by using thermoluminescent dosimeters, and by measuring radioactivity of the nest material. We then assessed DNA damage by means of the neutral comet assay. In addition, we conducted standard point-count censuses of barn swallows across environmental radiation levels, and estimated their abundance and local age ratio. Radioactivity of nest samples was in the range 479-143,349 Bq kg(-1), while external exposure varied between 0.15 and 4.9 mGy. Exposure to radioactive contamination did not correlate with higher genetic damage in nestlings. However, at higher levels of radioactive contamination the number of barn swallows declined and the fraction of juveniles decreased, indicating lower survival and lower reproduction and/or fledging rate. Thus, genetic damage to nestlings does not explain the decline of barn swallows in contaminated areas, and a proximate mechanism for the demographic effects documented here remains to be clarified.


Assuntos
Dano ao DNA/efeitos da radiação , Acidente Nuclear de Fukushima , Andorinhas/genética , Animais , Exposição à Radiação/efeitos adversos , Monitoramento de Radiação
4.
Br J Cancer ; 105(12): 1839-49, 2011 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-22045192

RESUMO

BACKGROUND: Hyaluronan (HA) plays crucial roles in the tumourigenicity of many types of malignant tumours. 4-Methylumbelliferone (MU) is an inhibitor of HA synthesis. Several studies have shown its inhibitory effects on malignant tumours; however, none have focused on its effects on osteosarcoma. METHODS: We investigated the effects of MU on HA accumulation and tumourigenicity of highly metastatic murine osteosarcoma cells (LM8) that have HA-rich cell-associated matrix, and human osteosarcoma cell lines (MG-63 and HOS). RESULTS: In vitro, MU inhibited HA retention, thereby reducing the formation of functional cell-associated matrices, and also inhibited cell proliferation, migration, and invasion. Akt phosphorylation was suppressed by MU (1.0 mM). In vivo, although MU showed only a mild inhibitory effect on the growth of the primary tumour, it markedly inhibited (75% reduction) the development of lung metastasis. Hyaluronan retention in the periphery of the primary tumour was markedly suppressed by MU. CONCLUSION: These findings suggested that MU suppressed HA retention and cell-associated matrix formation in osteosarcoma cells, resulting in a reduction of tumourigenicity, including lung metastasis. 4-Methylumbelliferone is a promising therapeutic agent targeting both primary tumours and distant metastasis of osteosarcoma, possibly via suppression of HA retention.


Assuntos
Ácido Hialurônico/metabolismo , Himecromona/análogos & derivados , Neoplasias Pulmonares/secundário , Osteossarcoma/patologia , Apoptose/efeitos dos fármacos , Ciclo Celular , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Humanos , Ácido Hialurônico/antagonistas & inibidores , Himecromona/farmacologia , Imuno-Histoquímica , Marcação In Situ das Extremidades Cortadas , Técnicas In Vitro , Neoplasias Pulmonares/metabolismo , Osteossarcoma/metabolismo , Fosforilação , Proteínas Proto-Oncogênicas c-akt/metabolismo , Reação em Cadeia da Polimerase em Tempo Real
6.
Dis Esophagus ; 21(4): 355-63, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18477259

RESUMO

The Los Angeles classification system is the most widely employed criteria associated with the greatest interobserver agreement among endoscopists. In Japan, the Los Angeles classification system has been modified (modified LA system) to include minimal changes as a distinct grade of reflux esophagitis, rather than as auxiliary findings. This adds a further grading M defined as minimal changes to the mucosa, such as erythema and/or whitish turbidity. The modified LA system has come to be used widely in Japan. However, there have been few reports to date that have evaluated the interobserver agreement in diagnosis when using the modified LA classification system incorporating these minimal changes as an additional grade. A total of 100 endoscopists from university hospitals and community hospitals, as well as private practices in the Osaka-Kobe area participated in the study. A total of 30 video clips of 30-40 seconds duration, mostly showing the esophagocardiac junction, were created and shown to 100 endoscopists using a video projector. The participating endoscopists completed a questionnaire regarding their clinical experience and rated the reflux esophagitis as shown in the video clips using the modified LA classification system. Agreement was assessed employing kappa (kappa) statistics for multiple raters. The kappa-value for all 91 endoscopists was 0.094, with a standard error of 0.002, indicating poor interobserver agreement. The endoscopists showed the best agreement on diagnosing grade A esophagitis (0.167), and the poorest agreement when diagnosing grade M esophagitis (0.033). The kappa-values for the diagnoses of grades N, M, and A esophagitis on identical video pairs were 0.275-0.315, with a standard error of 0.083-0.091, indicating fair intraobserver reproducibility among the endoscopists. The study results consistently indicate poor agreement regarding diagnoses as well as fair reproducibility of these diagnoses by endoscopists using the modified LA classification system, regardless of age, type of practice, past endoscopic experience, or current workload. However, grade M reflux esophagitis may not necessarily be irrelevant, as it may suggest an early form of reflux disease or an entirely new form of reflux esophagitis. Further research is required to elucidate the pathophysiological basis of minimal change esophagitis.


Assuntos
Esofagite Péptica/classificação , Esofagite Péptica/diagnóstico , Esofagoscopia , Variações Dependentes do Observador , Adulto , Idoso , Esofagite Péptica/patologia , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade
7.
Spinal Cord ; 43(5): 306-10, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15597113

RESUMO

OBJECTIVE: Hemodynamic infarction of the spinal cord that affected an 81-year-old female having a dissecting aortic aneurysm is presented. During the graft replacement operation, systemic hypotension occurred and the patient was subsequently complicated with paraplegia of the lower limbs. The patient died 2 weeks after the surgery due to gastrointestinal bleeding. An autopsy, which did not include the brain, was performed and the spinal cord was sampled. The aim of this report is to describe the pathologic profile of the spinal cord of the patient, and to gain insight into the pathogenesis of the lesion. METHODS: Histochemical and immunohistochemical methods were employed to study the spinal cord ranging from the lower thoracic to sacral segments. RESULTS: The whole central areas of the spinal cord showed coagulation and/or liquefaction necroses, while the white matter on the circumference of the cord remained unaffected, thus exhibiting a 'ring-like' appearance. CONCLUSION: This case is an example of hemodynamic infarction of the spinal cord involving the gray matter that is supplied by the central artery, plus the border-zone that is supplied by both the central and peripheral arteries. The former is probably associated with selective vulnerability of the gray matter to ischemia, while the latter is probably associated with intrinsic vulnerability of the border-zone to systemic hypotension or low blood-flow states.


Assuntos
Aneurisma Aórtico/patologia , Dissecção Aórtica/patologia , Infarto/patologia , Traumatismos da Medula Espinal/patologia , Idoso , Idoso de 80 Anos ou mais , Dissecção Aórtica/etiologia , Antígenos CD/metabolismo , Antígenos de Diferenciação Mielomonocítica/metabolismo , Aneurisma Aórtico/etiologia , Encéfalo/metabolismo , Encéfalo/patologia , Feminino , Histocitoquímica/métodos , Humanos , Infarto/etiologia , Traumatismos da Medula Espinal/complicações , Traumatismos da Medula Espinal/metabolismo , Traumatismos da Medula Espinal/cirurgia
8.
Org Lett ; 3(16): 2575-8, 2001 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-11483064

RESUMO

[reaction: see text] Enantioselective synthesis of FR-900482 analogues is described. The key reaction of the synthesis is intramolecular 1,3-dipolar cycloaddition of a highly functionalized nitrile oxide with complete stereo- and regioselectivities to construct the eight-membered benzazocine ring.


Assuntos
Antibióticos Antineoplásicos/síntese química , Oxazinas/síntese química , Reagentes de Ligações Cruzadas , Cristalografia por Raios X , Ciclização , Estereoisomerismo , Streptomyces/química
9.
Nihon Rinsho Meneki Gakkai Kaishi ; 24(4): 168-74, 2001 Aug.
Artigo em Japonês | MEDLINE | ID: mdl-16578968

RESUMO

A 63-year-old man, with a 13-year history of asymptomatic proteinuria, was diagnosed with left atrial myxoma at the onset of heart failure. After resection of the tumor by hypothermal surgery, the patient developed fever, renal failure and skin rash. The diagnosis was type II mixed cryoglobulinemia accompanied by an IgMlambda clone with high titers of rheumatoid factor activity and polyclonal IgG. Treatment with high doses of steroids and plasmapheresis was ineffective, and the patient died of colon necrosis due to thrombotic occlusion in the supra-mesenteric arteries. Although the patient had suffered from sporadic Raynaud's phenomenon and purpura of the lower extremities from the age of 60 years, cryoglobulinemia was not suspected before surgery because of the atrial myxoma. Thus, we suggest that it is important to perform laboratory tests for cryoproteins before hypothermal surgery.


Assuntos
Crioglobulinemia , Neoplasias Cardíacas/cirurgia , Mixoma/cirurgia , Complicações Pós-Operatórias , Procedimentos Cirúrgicos Cardíacos , Colo/patologia , Evolução Fatal , Átrios do Coração , Humanos , Hipotermia Induzida/efeitos adversos , Masculino , Pessoa de Meia-Idade , Necrose
10.
Dermatol Online J ; 7(2): 6, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12165222

RESUMO

We describe a patient in whom a chronic expanding hematoma was pathologically confirmed by examination of the resected specimen. It developed gradually in the left lateral thigh, which had been bruised 8 months before, but had produced no mass-related symptoms initially. Computed tomography (CT) showed the mass to be homogeneous with capsule formation, whereas ultrasonography showed it to resemble a multilocular cyst. The lesion was treated by complete excision of a perifascial mass. Grossly, a well-circumscribed, fusiform mass with a soft cystic center and a fibrous pseudocapsule was observed. Histologically, the mass was composed of necrotic debris, fibrin and blood clots. This was surrounded by a rim of hyalinized fibrous tissue with a chronic inflammatory infiltrate and granulation tissue with sprouting new capillaries. CT was unable to discriminate the chronic expanding hematoma from other soft tissue masses, ultrasonography being needed to reveal its characteristics in this case.


Assuntos
Fascia Lata/patologia , Hematoma/diagnóstico , Músculo Esquelético/patologia , Doenças Musculares/diagnóstico , Doença Crônica , Fascia Lata/diagnóstico por imagem , Fascia Lata/cirurgia , Hematoma/diagnóstico por imagem , Hematoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/cirurgia , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/cirurgia , Tomografia Computadorizada por Raios X , Ultrassonografia
11.
Hinyokika Kiyo ; 45(9): 641-4, 1999 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-10540713

RESUMO

A 60-year-old male was referred to our hospital with a complaint of asymptomatic gross hematuria. Cystoscopic examination revealed a non-papillary broad-based tumor on the posterior wall of the urinary bladder. Computed tomography revealed no evidence of metastases. Transurethral resection of bladder tumor (TUR-BT) was performed and muscle invasion was detected by histological examination of the specimen. Total cystectomy and ileal conduit formation were performed at the preoperative diagnosis of T2-3N0M0. Hematoxylin-eosin staining of the specimen revealed small cancer cells with hyperchromatic nucleus and scanty cytoplasm growing in the muscle layer of the urinary bladder and in the left obturator lymph nodes. Immunohistochemistry for neurospecific enolase showed diffuse staining in the cytoplasm of cancer cells, and ultrastructural study showed dense core granules. From these findings, the patient was diagnosed with small cell neuroendocrine carcinoma of the urinary bladder at the stage of pT3bpN1M0. Three courses of adjuvant chemotherapies with cis-platinum (CDDP) and etoposide were administered. The patient is still alive with no evidence of any recurrence at 22 months after the operation. This case suggests that treatment with combined total cystectomy and adjuvant CDDP and etoposide chemotherapies is effective against neuroendocrine carcinoma of the urinary bladder with regional lymph node metastases.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma Neuroendócrino/terapia , Carcinoma de Células Pequenas/terapia , Cistectomia , Neoplasias da Bexiga Urinária/terapia , Carcinoma Neuroendócrino/tratamento farmacológico , Carcinoma Neuroendócrino/secundário , Carcinoma Neuroendócrino/cirurgia , Carcinoma de Células Pequenas/tratamento farmacológico , Carcinoma de Células Pequenas/secundário , Carcinoma de Células Pequenas/cirurgia , Cisplatino/administração & dosagem , Terapia Combinada , Etoposídeo/administração & dosagem , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Neoplasias da Bexiga Urinária/tratamento farmacológico , Neoplasias da Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/cirurgia
12.
Am J Surg Pathol ; 23(11): 1313-9, 1999 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-10554999

RESUMO

We report the clinical, histopathologic, and immunohistologic features of 15 cases of pseudolymphomatous folliculitis (PLF). The patients comprised seven males and eight females (mean age, 38.6 years; age range, 2-67 years). All patients had dome-shaped or flat-elevated nodules suggestive of cutaneous lymphoid hyperplasias (CLHs). The lesions were solitary in all 15 cases, except in one case with duplex lesions. All lesions were located on the face and measured less than 1.5 cm. In 14 cases with one lesion each, five lesions showed rapid regression after incisional biopsy, whereas the remaining nine underwent excisional biopsy. In the case with duplex lesions, one regressed spontaneously after excisional biopsy of the other. Histopathologically, all PLFs showed dense lymphocytic infiltrates from the dermis to the subcutis simulating cutaneous lymphomas. The walls of hair follicles in all cases were enlarged and irregularly deformed with their epithelium blurred by lymphocytic infiltrates; we called this change "activation" of hair follicles. In nine cases, many atypical lymphocytes were intermingled; three of these cases had been misdiagnosed as cutaneous T-cell lymphoma at other institutions. Immunohistologically, 10 and 5 cases showed predominantly B cells and predominantly T cells, respectively. Remarkably, all lesions showed increased numbers of perifollicular histiocytes expressing anti-S-100 protein and CD1a, and seven lesions showed histiocytes in aggregates. We conclude that PLF is a subset of CLH with characteristic clinical and pathologic features showing perifollicular clustering of T-cell-associated dendritic cells with activation of pilosebaceous units. PLF is an entity to be differentiated from malignant lymphomas and other cutaneous pseudolymphomas.


Assuntos
Foliculite/patologia , Pseudolinfoma/patologia , Dermatopatias/patologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
13.
Hinyokika Kiyo ; 45(4): 281-4, 1999 Apr.
Artigo em Japonês | MEDLINE | ID: mdl-10363152

RESUMO

A 65-year-old man was referred to our hospital with a complaint of a scrotal mass which he first noticed 8 months ago. The mass was resected saving genital organs. Pathological diagnosis was extramammary Paget's disease with severe dermal invasion and many nuclear mitoses. The tumor was 15 mm in diameter, and 18 mm in thickness. The bilateral inguinal lymph nodes were dissected and multiple metastases were revealed in the right specimen. Since paraaortic lymph node metastases were detected later 5 cycles of chemotherapy consisting of cyclophosphamide, adriamycin and cisplatin (CAP) followed by radiation therapy were performed. However, only a partial response could be obtained, and multiple brain metastases were revealed on computed tomographic scan. He died 22 months after discovery of this disease. Since extramammary Paget's disease tends to grow slowly and horizontally, cases with such severe dermal invasion and early dissemination as in our case are unusual.


Assuntos
Neoplasias Encefálicas/secundário , Neoplasias dos Genitais Masculinos/patologia , Doença de Paget Extramamária/secundário , Escroto , Neoplasias Cutâneas/patologia , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Cisplatino/administração & dosagem , Ciclofosfamida/administração & dosagem , Doxorrubicina/administração & dosagem , Neoplasias dos Genitais Masculinos/tratamento farmacológico , Humanos , Metástase Linfática , Masculino , Invasividade Neoplásica , Doença de Paget Extramamária/tratamento farmacológico
14.
Gene ; 194(2): 241-7, 1997 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-9272866

RESUMO

A cDNA fragment encoding a novel tyrosine phosphatase (PTPase), termed ptpf, was isolated from day 11.5 mouse fetal liver using reverse transcription-polymerase chain reaction (RT-PCR) with degenerate primers. The 5.5-kb cDNA encoding the complete coding region was isolated from an adult mouse kidney cDNA library. This cDNA contained a single open reading frame (ORF) encoding a predicted 1436-amino-acid protein with a molecular mass of 161,150 Da. Sequence analysis revealed that PTPf was homologous to PTPmu and PTPkappa, and a putative receptor-type PTPase. Northern blotting analysis of adult mouse mRNA indicated the existence of four major ptpf transcripts of approximately 10, 6, 3 and 2.7 kb, and these transcripts were expressed in a tissue-specific manner. During embryogenesis, only the 6-kb transcript was detected.


Assuntos
Fígado/enzimologia , Proteínas Tirosina Fosfatases/genética , Receptores de Superfície Celular/genética , Sequência de Aminoácidos , Animais , Clonagem Molecular , DNA Complementar , Expressão Gênica , Fígado/embriologia , Camundongos , Dados de Sequência Molecular , Proteínas Tirosina Fosfatases/biossíntese , Proteínas Tirosina Fosfatases/química , Receptores de Superfície Celular/biossíntese , Receptores de Superfície Celular/química , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos
16.
Hum Pathol ; 28(4): 472-7, 1997 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9104948

RESUMO

Apoptosis was suspected to play a significant role in spontaneous regression of skin lesions in four cases of peripheral T-cell lymphoma arising in the skin or subcutis. All of the patients had skin tumors with ulcer formation, but no metastasis to the lymph nodes or viscera. Biopsy showed a sea of CD3-positive lymphoma cells involving the dermis to the subcutis with scattered foci of coagulative necrosis. In the zone of incipient necrosis surrounding the core of coagulative necrosis, frequent apoptotic bodies were identified by electron microscopy (EM), and DNA strand breaks were detected in 34% to 51% (mean, 42%) of lymphoma cells by the TdT-mediated deoxyuridine triphosphate (dUTP)-biotin nick end-labeling (TUNEL). As for the pathogenesis of coagulative necrosis, ischemic necrosis attributable to lymphocytic vasculitis appeared unlikely, because necrotic foci were devoid of neutrophils and had no relation to vascular distribution. Primary cataclysmic apoptosis appeared more likely, but its pathogenetic role could not be established, because EM and TUNEL could not be applied to the core of the debris-ridden coagulative necrosis. Although these cases had been classified as pseudolymphomas because they were histologically malignant but clinically benign, they were in fact true lymphomas characterized by extensive coagulative necrosis with a high rate of apoptosis demonstrable in the zone of incipient necrosis.


Assuntos
Linfoma de Células T Periférico/patologia , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Antígenos CD/análise , Apoptose , Biópsia , Feminino , Humanos , Imuno-Histoquímica , Linfoma de Células T Periférico/química , Linfoma de Células T Periférico/ultraestrutura , Masculino , Microscopia Eletrônica , Pessoa de Meia-Idade , Regressão Neoplásica Espontânea , Neoplasias Cutâneas/química , Neoplasias Cutâneas/ultraestrutura
17.
Hinyokika Kiyo ; 41(5): 399-402, 1995 May.
Artigo em Japonês | MEDLINE | ID: mdl-7541182

RESUMO

The Prostatron device, developed by Dr. Devonec, provides microwave heating of the prostate and simultaneous conductive cooling of the urethra. Treatment with Prostatron (transurethral microwave thermotherapy: TUMT) of BPH can be performed in a single session, and the urethra, the rectum and the surrounding tissue are protected with the temperature monitoring system. TUMT with Prostatron may be more suitable for a small adenoma with mild symptoms than a large adenoma with severe symptoms, because objective improvement is rarely observed compared with subjective improvement. We have treated 40 cases of BPH with Prostatron (Prostasoft 2, max. energy: 50 watt, max. urethral temperature: 44.5 degrees C, max. rectal temperature: 42.5 degrees C) since March 1993. Among them, there were 2 cases of large cavity formation involving the prostatic urethra. With cavity formation, TUMT may have its place in the treatment of a large adenoma with severe urinary symptoms, but loses its advantage in the prevention of persistent urinary infection and retrograde ejaculation, especially in the treatment of a small adenoma in a younger patient with mild urinary symptoms. It is unknown why such cavity formation occurred only in 2 patients among 40 equally treated cases, but the causes of cavity formation and safety of TUMT should be evaluated again, even though no injury to the rectum and the external urethral sphincter were detected. We report these 2 cases, and causes of cavity formation and discuss the prospects of TUMT.


Assuntos
Hipertermia Induzida/efeitos adversos , Micro-Ondas/efeitos adversos , Hiperplasia Prostática/terapia , Lesões por Radiação/etiologia , Uretra/efeitos da radiação , Idoso , Idoso de 80 Anos ou mais , Humanos , Masculino , Pessoa de Meia-Idade , Necrose , Lesões por Radiação/patologia , Uretra/patologia
18.
J Invest Dermatol ; 104(1): 74-7, 1995 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-7798645

RESUMO

Neurofibromatosis 2 (NF2) is an autosomal dominant disorder characterized by the occurrence of bilateral acoustic neuromas, as well as meningiomas and schwannomas. The gene locus for NF2 resides on chromosome 22q12 and has been cloned recently. Neurilemmomatosis is characterized by multiple cutaneous and spinal neurilemmomas without other signs of NF1 or NF2. Many cases with this disorder include the diagnosis of neurofibromatosis or other rare diseases unexplained by current nosology. In this study, we analyzed the peripheral leukocytes and tissue from cutaneous neurilemmomas of seven patients with neurilemmomatosis using DNA markers for different regions of chromosome 22. We detected allelic losses in three of seven tumors from seven patients with a probe for the NF2 region of the long arm of chromosome 22 and the germ-line mutations in two of three tumors from the same three patients. Mutations in the NF2 gene were a deletion from at least codon 334 to 579 and G insertion at codon 42. We conclude that the neurilemmomatosis locus lies within the NF2 region and that these diseases might be identical.


Assuntos
Neurilemoma/genética , Neurofibromatose 2/genética , Neoplasias Cutâneas/genética , Adulto , Alelos , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 4 , Códon , Feminino , Deleção de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Polimorfismo Conformacional de Fita Simples , Translocação Genética
19.
Jpn J Hum Genet ; 39(4): 433-7, 1994 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-7873756

RESUMO

Distal deletion of chromosome 1q has been reported in nearly 30 patients, all being associated with a deletion ranging from the 1q42 or q43 band to 1qter region. Here, we describe a girl with 1q terminal deletion resulting from an unbalanced de novo translocation t(1;D or G)(q44;p11), as revealed by the presence of a satellited feature and an NOR-stained region at the tip of 1q. We suggest that most of the phenotypic abnormalities seen in patients with 1q distal deletion are attributable to the monosomy for band 1q44.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Translocação Genética/genética , Pré-Escolar , Feminino , Humanos
20.
Hum Mol Genet ; 3(6): 937-9, 1994 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-7951241

RESUMO

We previously described a patient with neurofibromatosis type 2 (NF2) who showed a constitutional balanced translocation, t(4;22). To characterize the breakpoint on chromosome 22 in this patient in relation to a candidate gene (NF2) responsible for NF2, we analyzed DNAs from this patient and her parents using parts of NF2 cDNA as probes. Southern analyses and DNA sequencing revealed that the chromosome 22 breakpoint in this patient lies within the intron between exons 14 and 15 of NF2. The results lend support to the conclusion that NF2 is the gene responsible for the CNS form of neurofibromatosis.


Assuntos
Cromossomos Humanos Par 22 , Cromossomos Humanos Par 4 , Genes da Neurofibromatose 2 , Neurofibromatose 2/genética , Translocação Genética , Sequência de Bases , Mapeamento Cromossômico , Éxons , Feminino , Humanos , Íntrons , Masculino , Dados de Sequência Molecular , Sondas de Oligonucleotídeos
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