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1.
J Int Med Res ; 47(1): 293-302, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30278795

RESUMO

OBJECTIVE: This study aimed to analyze the clinical characteristics and prognosis of pediatric idiopathic pulmonary hemosiderosis (IPH). METHODS: Pediatric IPH cases that were diagnosed at West China Second University Hospital, Sichuan University between 1996 and 2017 were reviewed. Follow-up data from 34 patients were collected. RESULTS: A total of 107 patients were included (42 boys and 65 girls). The median age was 6 years at diagnosis. The main manifestations of the patients were as follows: anemia (n = 100, 93.45%), cough (n = 68, 63.55%), hemoptysis (n = 61, 57%), fever (n = 23, 21.5%), and dyspnea (n = 23, 21.5%). There were relatively few pulmonary signs. The positive rates of hemosiderin-laden macrophages in sputum, gastric lavage fluid, and bronchoalveolar lavage fluid were 91.66%, 98.21%, and 100%, respectively. Seventy-nine patients were misdiagnosed. A total of 105 patients were initially treated with glucocorticoids, among whom 102 survived and three died. Among the followed up patients, two died and 32 survived, among whom 10 presented with recurrent episodes. CONCLUSIONS: The classic triad of pediatric IPH is not always present. The rates of misdiagnosis and recurrence of IPH are high. Early recognition and adequate immunosuppressive therapy are imperative for improving prognosis of IPH.


Assuntos
Anemia/diagnóstico por imagem , Tosse/diagnóstico por imagem , Dispneia/diagnóstico por imagem , Febre/diagnóstico por imagem , Hemoptise/diagnóstico por imagem , Hemossiderose/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Adolescente , Anemia/tratamento farmacológico , Anemia/mortalidade , Anemia/fisiopatologia , Anti-Inflamatórios/uso terapêutico , Líquido da Lavagem Broncoalveolar/química , Criança , Pré-Escolar , Tosse/tratamento farmacológico , Tosse/mortalidade , Tosse/fisiopatologia , Erros de Diagnóstico/estatística & dados numéricos , Dispneia/tratamento farmacológico , Dispneia/mortalidade , Dispneia/fisiopatologia , Feminino , Febre/tratamento farmacológico , Febre/mortalidade , Febre/fisiopatologia , Lavagem Gástrica/métodos , Glucocorticoides/uso terapêutico , Hemoptise/tratamento farmacológico , Hemoptise/mortalidade , Hemoptise/fisiopatologia , Hemossiderose/tratamento farmacológico , Hemossiderose/mortalidade , Hemossiderose/fisiopatologia , Humanos , Lactente , Pulmão/fisiopatologia , Pneumopatias/tratamento farmacológico , Pneumopatias/mortalidade , Pneumopatias/fisiopatologia , Macrófagos/química , Masculino , Estudos Retrospectivos , Escarro/química , Análise de Sobrevida , Tomografia Computadorizada por Raios X , Hemossiderose Pulmonar
2.
J Cardiovasc Magn Reson ; 19(1): 36, 2017 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-28343449

RESUMO

BACKGROUND: Heart failure related to cardiac siderosis remains a major cause of death in transfusion dependent anaemias. Replacement fibrosis has been reported as causative of heart failure in siderotic cardiomyopathy in historical reports, but these findings do not accord with the reversible nature of siderotic heart failure achievable with intensive iron chelation. METHODS: Ten whole human hearts (9 beta-thalassemia major, 1 sideroblastic anaemia) were examined for iron loading and fibrosis (replacement and interstitial). Five had died from heart failure, 4 had cardiac transplantation for heart failure, and 1 had no heart failure (death from a stroke). Heart samples iron content was measured using atomic emission spectroscopy. Interstitial fibrosis was quantified by computer using picrosirius red (PSR) staining and expressed as collagen volume fraction (CVF) with normal value for left ventricle <3%. RESULTS: The 9 hearts affected by heart failure had severe iron loading with very low T2* of 5.0 ± 2.0 ms (iron concentration 8.5 ± 7.0 mg/g dw) and diffuse granular myocardial iron deposition. In none of the 10 hearts was significant macroscopic replacement fibrosis present. In only 2 hearts was interstitial fibrosis present, but with low CVF: in one patient with no cardiac siderosis (death by stroke, CVF 5.9%) and in a heart failure patient (CVF 2%). In the remaining 8 patients, no interstitial fibrosis was seen despite all having severe cardiac siderosis and heart failure (CVF 1.86% ±0.87%). CONCLUSION: Replacement cardiac fibrosis was not seen in the 9 post-mortem hearts from patients with severe cardiac siderosis and heart failure leading to death or transplantation, which contrasts markedly to historical reports. Minor interstitial fibrosis was also unusual and very limited in extent. These findings accord with the potential for reversibility of heart failure seen in iron overload cardiomyopathy. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT00520559.


Assuntos
Transfusão de Sangue , Cardiomiopatias/metabolismo , Cardiomiopatias/patologia , Insuficiência Cardíaca/metabolismo , Insuficiência Cardíaca/patologia , Hemossiderose/metabolismo , Hemossiderose/patologia , Ferro/análise , Miocárdio/química , Miocárdio/patologia , Talassemia beta/terapia , Adolescente , Adulto , Autopsia , Compostos Azo/química , Transfusão de Sangue/mortalidade , Cardiomiopatias/mortalidade , Cardiomiopatias/cirurgia , Causas de Morte , Criança , Colágeno/análise , Corantes/química , Feminino , Fibrose , Insuficiência Cardíaca/mortalidade , Insuficiência Cardíaca/cirurgia , Transplante de Coração , Hemossiderose/mortalidade , Hemossiderose/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Espectrofotometria Atômica , Coloração e Rotulagem/métodos , Adulto Jovem , Talassemia beta/sangue , Talassemia beta/diagnóstico , Talassemia beta/mortalidade
3.
Blood Cells Mol Dis ; 55(1): 82-8, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25976473

RESUMO

The aim of the study was to assess the current state in terms of liver and heart iron overload as well as of liver and heart related morbidity and mortality in a large cohort of thalassemia patients. Myocardial iron loading was present in 28.9% patients, which was severe in 3.2%. Liver iron was normal in 9.3% and severe in 15%. The rate of cardiac deaths started to decrease between 2000 and 2003 and dropped significantly afterwards. The prescription of combination therapy soon after the hospital admission for decompensated heart failure was associated with a decrease in the short-term mortality. In 111 adult patients who underwent liver elastometry, 14 HCVRNA positive subjects and 2 HCVRNA negative, had stiffness values suggestive of cirrhosis. No cases of hepatocarcinoma were reported. Liver "iron free foci" occurred in a HCV negative patient and the occurrence of a malignant epithelioid hemangioendothelioma led to liver transplantation in another. The study suggests that a subset of patients continues to develop progressive hemosiderosis that may lead to cardiac disease and death. Beyond its key role in preventing myocardial iron overload, liver iron chelation is essential for hampering the onset of hepatic tumors, which may not be limited to hepatocarcinoma.


Assuntos
Hemangioendotelioma/patologia , Hemossiderose/patologia , Cirrose Hepática/patologia , Neoplasias Hepáticas/patologia , Talassemia beta/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Deferiprona , Desferroxamina/uso terapêutico , Quimioterapia Combinada , Feminino , Hemangioendotelioma/etiologia , Hemangioendotelioma/mortalidade , Hemangioendotelioma/cirurgia , Hemossiderose/tratamento farmacológico , Hemossiderose/etiologia , Hemossiderose/mortalidade , Humanos , Lactente , Ferro/metabolismo , Quelantes de Ferro/uso terapêutico , Fígado/efeitos dos fármacos , Fígado/metabolismo , Fígado/patologia , Cirrose Hepática/tratamento farmacológico , Cirrose Hepática/etiologia , Cirrose Hepática/mortalidade , Neoplasias Hepáticas/etiologia , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/cirurgia , Masculino , Pessoa de Meia-Idade , Miocárdio/metabolismo , Miocárdio/patologia , Piridonas/uso terapêutico , Índice de Gravidade de Doença , Análise de Sobrevida , Reação Transfusional , Talassemia beta/metabolismo , Talassemia beta/mortalidade , Talassemia beta/terapia
4.
J Cardiovasc Magn Reson ; 16: 62, 2014 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-25158620

RESUMO

BACKGROUND: The assessment of myocardial iron using T2* cardiovascular magnetic resonance (CMR) has been validated and calibrated, and is in clinical use. However, there is very limited data assessing the relaxation parameters T1 and T2 for measurement of human myocardial iron. METHODS: Twelve hearts were examined from transfusion-dependent patients: 11 with end-stage heart failure, either following death (n=7) or cardiac transplantation (n=4), and 1 heart from a patient who died from a stroke with no cardiac iron loading. Ex-vivo R1 and R2 measurements (R1=1/T1 and R2=1/T2) at 1.5 Tesla were compared with myocardial iron concentration measured using inductively coupled plasma atomic emission spectroscopy. RESULTS: From a single myocardial slice in formalin which was repeatedly examined, a modest decrease in T2 was observed with time, from mean (± SD) 23.7 ± 0.93 ms at baseline (13 days after death and formalin fixation) to 18.5 ± 1.41 ms at day 566 (p<0.001). Raw T2 values were therefore adjusted to correct for this fall over time. Myocardial R2 was correlated with iron concentration [Fe] (R2 0.566, p<0.001), but the correlation was stronger between LnR2 and Ln[Fe] (R2 0.790, p<0.001). The relation was [Fe] = 5081•(T2)-2.22 between T2 (ms) and myocardial iron (mg/g dry weight). Analysis of T1 proved challenging with a dichotomous distribution of T1, with very short T1 (mean 72.3 ± 25.8 ms) that was independent of iron concentration in all hearts stored in formalin for greater than 12 months. In the remaining hearts stored for <10 weeks prior to scanning, LnR1 and iron concentration were correlated but with marked scatter (R2 0.517, p<0.001). A linear relationship was present between T1 and T2 in the hearts stored for a short period (R2 0.657, p<0.001). CONCLUSION: Myocardial T2 correlates well with myocardial iron concentration, which raises the possibility that T2 may provide additive information to T2* for patients with myocardial siderosis. However, ex-vivo T1 measurements are less reliable due to the severe chemical effects of formalin on T1 shortening, and therefore T1 calibration may only be practical from in-vivo human studies.


Assuntos
Insuficiência Cardíaca/diagnóstico , Hemossiderose/diagnóstico , Ferro/metabolismo , Imageamento por Ressonância Magnética/normas , Contração Miocárdica , Miocárdio/metabolismo , Função Ventricular Esquerda , Adolescente , Adulto , Biomarcadores/metabolismo , Calibragem , Criança , Europa (Continente) , Feminino , Fixadores , Formaldeído , Insuficiência Cardíaca/metabolismo , Insuficiência Cardíaca/mortalidade , Insuficiência Cardíaca/patologia , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/cirurgia , Transplante de Coração , Hemossiderose/metabolismo , Hemossiderose/mortalidade , Hemossiderose/patologia , Hemossiderose/fisiopatologia , Hemossiderose/cirurgia , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Miocárdio/patologia , Valor Preditivo dos Testes , Prognóstico , Espectrofotometria Atômica , Tailândia , Fatores de Tempo , Fixação de Tecidos/métodos , Adulto Jovem
5.
Neurobiol Aging ; 33(5): 914-20, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-20709430

RESUMO

Brain iron promotes neurodegeneration in Parkinson's disease (PD). While hemoglobin (Hb) is the most abundant source of peripheral iron in humans, its relationship with PD is uncertain. This report examines the association between Hb in late life and PD incidence. From 1991 to 1993, Hb was measured in 3507 men in the Honolulu-Asia Aging Study. Men were aged 71-93 years and without PD. Participants were followed until 2001 for incident PD. Hb levels declined markedly with age. For men aged 71-75 years, 14.8% had levels < 14 g/dL versus 53.6% in those aged 86 and older (p < 0.001). During follow-up, 47 men developed PD (19.8/10,000 person-years). After age adjustment, PD incidence rose significantly from 10.3 to 34.9/10,000 person-years as Hb increased from < 14 to ≥ 16 g/dL (p = 0.024; relative hazard 3.2; 95% confidence interval, 1.2-8.9). Associations persisted after accounting for early mortality and adjustments for concomitant risk factors. While Hb declines with advancing age, evidence suggests that Hb that remains high in elderly men is associated with an increased risk of PD.


Assuntos
Hemoglobinas/metabolismo , Doença de Parkinson/mortalidade , Distribuição por Idade , Idoso , Asiático , Seguimentos , Havaí/epidemiologia , Hemossiderose/mortalidade , Humanos , Incidência , Masculino , Degeneração Neural/mortalidade , Fatores de Risco
6.
Ann N Y Acad Sci ; 1054: 445-50, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16339695

RESUMO

Iron-induced organ degeneration is the main factor of mortality in patients with thalassemia major. Since chelation therapy is at a turning point, from the laborious parenteral route to the use of new promising oral agents, we investigated the current status of survival of these patients to present reliable data that will be useful in future comparative studies. Survival probabilities were estimated by the Kaplan-Meier method, and results were compared by the log-rank test in a total of 647 thalassemic patients (pts) (52% males) born between 1/1/58 and 1/2/04. Terminal follow-up was 1/12/04. All transfusion-dependent pts monitored in our center, or in frequent contact if they had moved elsewhere, were strictly selected, excluding all rarely transfused or intermediate cases. Pts born before 1/1/75 were classified in group A (n = 366), while pts born later were included in group B (n = 281). According to the last 5 years' mean serum ferritin level, pts were divided into three hemosiderosis groups: (1) mild (<2000 microg/L) 49%, (2) moderate (2000-4000 microg/L) 28%, and (3) severe (>4000 microg/L) 23%. Of the 647 pts, 115 died (mean age: 22.6 +/- 6.2 years), most frequently by heart failure (71.3%) followed by sepsis (7.8%). Life expectancy in the entire population was up to 59% at 46 years. Survival was higher for pts born after 1975 than those before (P < .001). Statistically significantly different survival probabilities were found between groups with mild, moderate, or severe hemosiderosis (P < .001). Effective management with improved chelation therapy could lead to better results.


Assuntos
Causas de Morte , Talassemia beta/epidemiologia , Síndrome da Imunodeficiência Adquirida/mortalidade , Adolescente , Adulto , Fatores Etários , Transfusão de Sangue , Transplante de Medula Óssea/mortalidade , Terapia por Quelação , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Feminino , Ferritinas/sangue , Grécia/epidemiologia , Insuficiência Cardíaca/mortalidade , Hemossiderose/etiologia , Hemossiderose/mortalidade , Humanos , Expectativa de Vida , Tábuas de Vida , Hepatopatias/mortalidade , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Sepse/mortalidade , Análise de Sobrevida , Tromboembolia/mortalidade , Talassemia beta/tratamento farmacológico , Talassemia beta/mortalidade , Talassemia beta/cirurgia , Talassemia beta/terapia
7.
Liver Int ; 25(1): 41-8, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15698397

RESUMO

AIM: Although hepatic iron deposition unrelated to hereditary hemochromatosis is commonly observed in cirrhosis, its clinical significance is unclear. The aim of this study was to examine the outcomes of cirrhotic patients with and without hemosiderosis. METHODS: Patients with an initial liver biopsy demonstrating cirrhosis between January 1993 and December 1997 were identified using the Department of Pathology database. Based on iron staining, patients were characterized as siderotic or nonsiderotic. Charts were reviewed to determine outcomes. RESULTS: Siderotic patients had significantly higher Child-Pugh (CP) and model for end-stage liver disease (MELD) scores. Their median survival without transplant was 23 months vs. 85 months in the nonsiderotics (P<0.0001, confidence interval: 95%). On univariate analysis, siderosis was associated with a hazard ratio of 2.74 (P<0.0001). On multivariate analysis, the effect of siderosis was reduced but remained significant after correction for the CP or MELD score (hazard ratios 1.82 and 2.06, P=0.05 and 0.02, respectively). Child's A cirrhotics with hemosiderosis decompensated more rapidly and had shorter median survival than those without siderosis (P=0.007 and P=0.01, respectively). CONCLUSIONS: The presence of siderosis is associated with more advanced liver dysfunction. Even when the effects of baseline liver function are taken into account, siderosis is associated with decreased survival and more rapid decompensation in cirrhosis.


Assuntos
Hemossiderose/complicações , Cirrose Hepática/complicações , Falência Hepática/etiologia , Feminino , Hemossiderose/mortalidade , Hemossiderose/patologia , Humanos , Ferro/metabolismo , Cirrose Hepática/mortalidade , Cirrose Hepática/patologia , Falência Hepática/mortalidade , Falência Hepática/patologia , Testes de Função Hepática , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Coloração e Rotulagem , Taxa de Sobrevida
8.
Chest ; 116(3): 721-5, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10492278

RESUMO

STUDY OBJECTIVES: Previously, IPH patients have been reported to have an average survival of 2.5 years. However, at our institution, many IPH patients have survived longer than that. Therefore, we conducted this study to determine the clinical course and current mortality of pediatric IPH patients treated with immunosuppressants. DESIGN: Retrospective chart review. SETTING: Children's hospital. PARTICIPANTS: Seventeen patients in whom IPH was diagnosed between 1972 and 1998. MEASUREMENTS AND RESULTS: Mean age at diagnosis was 4.5 +/- 3.5 years, and 12 patients were female. At diagnosis, all patients had anemia and pulmonary infiltrates; 85% had hypoxemia, 65% had hemoptysis, and 70% had fever. The diagnosis was made by open lung biopsy in 13 patients (76%), hemosiderin-laden macrophages in BAL fluid in 1 patient (6%), hemosiderin-laden macrophages in gastric aspirate in 2 patients (12%), or by clinical presentation alone in 1 patient (6%). The mean duration of follow-up for all patients was 3.6 +/- 3.4 years (range, 0.7 to 10.2). Initial treatment consisted of prednisone only in 14 patients (82%), and prednisone and hydroxychloroquine in two patients (12%). Thirteen patients (76%) required long-term corticosteroids because of recurrent hemoptysis. Eight patients (47%) required other immunosuppressants (hydroxychloroquine or azathioprine) in addition to prednisone to control their hemoptysis. One patient who was not treated with prednisone remained asymptomatic for 1.8 years. Three patients (17%) died of acute massive pulmonary hemorrhage (4.1 +/- 5.0 years postdiagnosis). CONCLUSION: Five-year survival for IPH patients in our study was 86% (by Kaplan-Meier method). We conclude that these IPH patients who received long-term treatment had a better outcome than those previously reported who were not treated with extended courses of immunosuppressive therapy. We speculate that long-term immunosuppression therapy may improve the prognosis in IPH.


Assuntos
Hemossiderose/mortalidade , Pneumopatias/mortalidade , Adolescente , Criança , Pré-Escolar , Feminino , Glucocorticoides/uso terapêutico , Hemossiderose/diagnóstico , Hemossiderose/tratamento farmacológico , Humanos , Hidroxicloroquina/uso terapêutico , Imunossupressores/uso terapêutico , Lactente , Pneumopatias/diagnóstico , Pneumopatias/tratamento farmacológico , Masculino , Prednisona/uso terapêutico , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida
9.
J Wildl Dis ; 35(3): 481-6, 1999 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10479082

RESUMO

Necropsy findings from natural deaths in free living and captive stitchbirds (Notiomystis cincta) were examined over a 3 yr period (November 1991-94) to establish whether disease was an important factor in translocation failures and captive breeding programs undertaken by the New Zealand Department of Conservation. Fresh and fixed material from seven free-living birds and 11 captive birds were examined and were compared with those of a retrospective study of archival material from captive and wild birds collected over a 13 yr period (1979-91). The causes of death in both the present and retrospective study showed a similar pattern with aspergillosis and aspiration pneumonia being the most significant cause of mortality in captive birds. Aspergillosis was diagnosed as the cause of death in 11 of 31 stitchbirds from Mt Bruce; eight of these deaths occurred in the winter months (June-August). The other causes of death in captive birds included trauma, coccidiosis, and sporadic bacterial infections. Hemosiderosis and airsacculitis were common histological findings in most of the wild and captive stitchbirds examined.


Assuntos
Aspergilose/veterinária , Doenças das Aves/mortalidade , Pneumopatias Fúngicas/veterinária , Animais , Aspergilose/mortalidade , Bacteriemia/mortalidade , Bacteriemia/veterinária , Aves , Causas de Morte , Coccidiose/mortalidade , Coccidiose/veterinária , Feminino , Hemossiderose/mortalidade , Hemossiderose/veterinária , Pneumopatias Fúngicas/mortalidade , Masculino , Nova Zelândia/epidemiologia , Pneumonia Aspirativa/mortalidade , Pneumonia Aspirativa/veterinária , Estudos Retrospectivos
10.
Pediatr Pulmonol ; 27(3): 180-4, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10213256

RESUMO

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease of unknown etiology characterized by recurrent episodes of pulmonary symptoms such as cough, hemoptysis, and dyspnea. Our study consisted of 23 patients: 12 males and 11 females with IPH. The diagnosis was based on history, presence of anemia, and characteristic chest X-ray, and was confirmed by showing macrophages laden with hemosiderin in gastric washings or bronchoalveolar lavage and/or open lung biopsy. All but one patient were diagnosed in our department between 1979-1994. There was a history of multiple blood transfusions for anemia in 10 patients. Consanguinity between parents was noted in 11 patients. Severe pallor, cough, hemoptysis, and hepatomegaly were the most common findings on physical examination. All but 2 patients had hypochromic microcytic anemia of varying severity. In 12 children, moderate reticulocytosis was noted. Corticosteroids were administered with doses ranging from 5 mg every other day to 2 mg/kg/day depending on the severity of the episodes (duration of disease from 2-14 years). It is our impression that patients with IPH, benefit from long-term steroid treatment which in turn results in a milder course. Long-term low-dose steroid treatment appeared to prevent crises and assured a prolonged survival.


Assuntos
Glucocorticoides/uso terapêutico , Hemossiderose/tratamento farmacológico , Pneumopatias/tratamento farmacológico , Prednisolona/uso terapêutico , Adolescente , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Feminino , Hemossiderose/diagnóstico , Hemossiderose/mortalidade , Humanos , Lactente , Assistência de Longa Duração , Pneumopatias/diagnóstico , Pneumopatias/mortalidade , Masculino , Prognóstico , Espirometria , Taxa de Sobrevida , Resultado do Tratamento
11.
Am J Hum Genet ; 63(5): 1396-403, 1998 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9792866

RESUMO

A new neonatal syndrome characterized by intrauterine growth retardation, lactic acidosis, aminoaciduria, liver hemosiderosis, and early death was recently described. The pathogenesis of this disease is unknown. The mode of inheritance is autosomal recessive, and so far only 17 cases have been reported in 12 Finnish families. Here we report the assignment of the locus for this new disease to a restricted region on chromosome 2q33-37. We mapped the disease locus in a family material insufficient for traditional linkage analysis by using linkage disequilibrium, a possibility available in genetic isolates such as Finland. The primary screening of the genome was performed with samples from nine affected individuals in five families. In the next step, conventional linkage analysis was performed in eight families, with a total of 12 affected infants, and finally the locus assignment was proved by demonstrating linkage disequilibrium to the regional markers in 20 disease chromosomes. Linkage analysis restricted the disease locus to a 3-cM region between markers D2S164 and D2S2359, and linkage disequilibrium with the ancestral haplotype restricted the disease locus further to the immediate vicinity of marker D2S2250.


Assuntos
Cromossomos Humanos Par 2 , Retardo do Crescimento Fetal/genética , Genes Letais , Hemossiderose/genética , Hepatopatias/genética , Erros Inatos do Metabolismo/genética , Acidose Láctica/genética , Acidose Láctica/mortalidade , Aminoácidos/urina , Mapeamento Cromossômico , Família , Feminino , Retardo do Crescimento Fetal/mortalidade , Finlândia , Ligação Genética , Marcadores Genéticos , Hemossiderose/mortalidade , Humanos , Recém-Nascido , Desequilíbrio de Ligação , Hepatopatias/mortalidade , Masculino , Erros Inatos do Metabolismo/mortalidade , Linhagem , Síndrome
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