scholarly journals Constitutional Anemia (Fanconi’s Syndrome) and Leukemia in Two Brothers

Blood ◽  
1955 ◽  
Vol 10 (8) ◽  
pp. 788-801 ◽  
Author(s):  
R. H. COWDELL ◽  
P. J. R. PHIZACKERLEY ◽  
D. A. PYKE

Abstract Two brothers physically very alike became ill in their third decade, one with severe bone marrow hypoplasia and the other with acute leukemia. Both died and the autopsy findings are described. The two shared certain congenital defects, notably short stature with small heads, cutaneous pigmentation, pituitary and genital hypoplasia, and deformity of the thumbs. The brother with hypoplastic anemia also had aortic hypoplasia and his left kidney was absent. No previous report has been discovered of the association of Fanconi’s syndrome (of bone marrow hypoplasia with congenital defects) and leukemia with similar congenital defects in brothers. In two reports of leukemia affecting cousins of patients with Fanconi's syndrome, the leukemic cousins were without congenital defects.

PEDIATRICS ◽  
1952 ◽  
Vol 10 (3) ◽  
pp. 286-292
Author(s):  
HANS W. KUNZ

A case of Fanconi syndrome at an unusually young age presenting anemia, leukopenia, thrombocytopenia, microcephaly, hypogenitalism, skin pigmentation, and anomalies of thumbs, kidneys and heart is described. The patient's younger brother with multiple anomalies of the extremities, hydrocephalus, abnormal ears and genitalia died at the age of 17 months without pigmentation and hematologic symptoms, changes which usually do not occur before the age of 5 years. The literature is reviewed and a follow-up on previously reported cases is given. It seems that in addition to a hypoplasia of the bone marrow an extracorpuscular hemolytic mechanism plays a role in the pathogenesis of the anemia. It is suggested that some manifestations may be due to impaired adrenocortical function.


Blood ◽  
1959 ◽  
Vol 14 (9) ◽  
pp. 1008-1014 ◽  
Author(s):  
SERGIO GARRIGA ◽  
WILLIAM H. CROSBY

Abstract The authors have reviewed the published cases of Fanconi’s syndrome of hypoplasia of the bone marrow. They have tabulated the features of the syndrome, pointing out that atrophy of the spleen is a common fault and may reflect a generalized dystrophy of the tissues of mesenchymal origin. Of special interest is the demonstration of a high incidence of leukemia in the families of patients with hereditary hypoplasia of the bone marrow.


Blood ◽  
1952 ◽  
Vol 7 (9) ◽  
pp. 915-926 ◽  
Author(s):  
J. D. L. REINHOLD ◽  
E. NEUMARK ◽  
R. LIGHTWOOD ◽  
C. O. CARTER

Abstract The published examples of Fanconi's syndrome are reviewed. The syndrome consists of familial hypoplastic anemia and is associated with pigmentation, microcephaly, strabismus, mental backwardness and other congenital anomalies. Two further examples occurring in a family of 7 children are described. Both sisters have macrocytic hypoplastic anemia, microcephaly and convergent strabismus; one has been treated by splenectomy. Three other siblings have microcephaly and other congenital abnormalities, but no anemia. There was no evidence of hemolysis. This condition is probably determined by a recessive gene.


2020 ◽  
pp. 68-72
Author(s):  
V.G. Nikitaev ◽  
A.N. Pronichev ◽  
V.V. Dmitrieva ◽  
E.V. Polyakov ◽  
A.D. Samsonova ◽  
...  

The issues of using of information and measurement systems based on processing of digital images of microscopic preparations for solving large-scale tasks of automating the diagnosis of acute leukemia are considered. The high density of leukocyte cells in the preparation (hypercellularity) is a feature of microscopic images of bone marrow preparations. It causes the proximity of cells to eachother and their contact with the formation of conglomerates. Measuring of the characteristics of bone marrow cells in such conditions leads to unacceptable errors (more than 50%). The work is devoted to segmentation of contiguous cells in images of bone marrow preparations. A method of cell separation during white blood cell segmentation on images of bone marrow preparations under conditions of hypercellularity of the preparation has been developed. The peculiarity of the proposed method is the use of an approach to segmentation of cell images based on the watershed method with markers. Key stages of the method: the formation of initial markers and builds the lines of watershed, a threshold binarization, shading inside the outline. The parameters of the separation of contiguous cells are determined. The experiment confirmed the effectiveness of the proposed method. The relative segmentation error was 5 %. The use of the proposed method in information and measurement systems of computer microscopy for automated analysis of bone marrow preparations will help to improve the accuracy of diagnosis of acute leukemia.


Author(s):  
Валентина Викторовна Дмитриева ◽  
Николай Николаевич Тупицын ◽  
Евгений Валерьевич Поляков ◽  
Софья Сергеевна Денисюк

Применение методов и средств цифровой обработки изображений при распознавании типов клеток крови и костного мозга для повышения качества диагностики острых лейкозов является актуальной научно-технической задачей, отвечающей стратегии развития технологий искусственного интеллекта в медицине. В работе предложен подход к мультиклассификации клеток костного мозга при диагностике острых лейкозов и минимальной остаточной болезни. Для проведения экспериментальных исследований сформирована выборка из 3284 изображений клеток, представленных Лабораторией гемопоэза Национального медицинского исследовательского центра онкологии им. Н.Н. Блохина. Предложенный подход к мультиклассификации клеток костного мозга основан на бинарной модели классификации для каждого из исследуемых классов относительно остальных. В рассматриваемой работе бинарная классификация выполняется методом опорных векторов. Метод мультиклассификации был программно реализован с применением интерпретатора Python 3.6.9. Входными данными программы служат файлы формата *.csv с таблицами морфологических, цветовых, текстурных признаков для каждой из клеток используемой выборки. В выборке представлено девять типов клеток костного мозга. Выходными данными программы мультиклассификации являются значения точности классификации на тестовой выборке, которые отражают совпадение прогнозируемого класса клетки с фактическим (верифицированным) классом клетки. “Эксперимент показал следующие результаты: точность мультиклассификации рассматриваемых типов клеток в среднем составила: 87% на тестовом наборе, 88% на обучающем наборе данных. Проведенное исследование является предварительным. В дальнейшем планируется увеличить число классов клеток, объем выборок различных типов клеток и с уточнением результатов мультиклассификации The use of methods and means of digital image processing in the recognition of types of blood cells and bone marrow to improve the quality of diagnosis of acute leukemia is an urgent scientific and technical task that meets the strategy for the development of artificial intelligence technologies in medicine. The paper proposes an approach to the multiclassification of bone marrow cells in the diagnosis of acute leukemia and minimal residual disease. For experimental studies, a sample of 3284 images of cells was formed, submitted by the Hematopoiesis Laboratory of the National Medical Research Center of Oncology named after V.I. N.N. Blokhin. The proposed approach to the multiclassification of bone marrow cells is based on a binary classification model for each of the studied classes relative to the others. In the work under consideration, binary classification is performed by the support vector machine. The multiclassification method was implemented programmatically using the Python 3.6.9 interpreter. The input data of the program are * .csv files with tables of morphological, color, texture features for each of the cells of the sample used. The sample contains nine types of bone marrow cells. The output data of the multiclassification program are the classification accuracy values on the test sample, which reflect the coincidence of the predicted cell class with the actual (verified) cell class. “The experiment showed the following results: the accuracy of multiclassification of the considered types of cells on average was: 87% on the test set, 88% on the training data set. This study is preliminary. In the future, it is planned to increase the number of classes of cells, the volume of samples of various types of cells and with the refinement of the results of multiclassification


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Hideki Ueyama ◽  
Yoichi Ohta ◽  
Yuuki Imai ◽  
Akinobu Suzuki ◽  
Ryo Sugama ◽  
...  

Abstract Background Bone morphogenetic proteins (BMPs) induce osteogenesis in various environments. However, when BMPs are used alone in the bone marrow environment, the maintenance of new bone formation is difficult owing to vigorous bone resorption. This is because BMPs stimulate the differentiation of not only osteoblast precursor cells but also osteoclast precursor cells. The present study aimed to induce and maintain new bone formation using the topical co-administration of recombinant human BMP-2 (rh-BMP-2) and zoledronate (ZOL) on beta-tricalcium phosphate (β-TCP) composite. Methods β-TCP columns were impregnated with both rh-BMP-2 (30 µg) and ZOL (5 µg), rh-BMP-2 alone, or ZOL alone, and implanted into the left femur canal of New Zealand white rabbits (n = 56). The implanted β-TCP columns were harvested and evaluated at 3 and 6 weeks after implantation. These harvested β-TCP columns were evaluated radiologically using plane radiograph, and histologically using haematoxylin/eosin (H&E) and Masson’s trichrome (MT) staining. In addition, micro-computed tomography (CT) was performed for qualitative analysis of bone formation in each group (n = 7). Results Tissue sections stained with H&E and MT dyes revealed that new bone formation inside the β-TCP composite was significantly greater in those impregnated with both rh-BMP-2 and ZOL than in those from the other experimental groups at 3 and 6 weeks after implantations (p < 0.05). Micro-CT data also demonstrated that the bone volume and the bone mineral density inside the β-TCP columns were significantly greater in those impregnated with both rh-BMP-2 and ZOL than in those from the other experimental groups at 3 and 6 weeks after implantations (p < 0.05). Conclusions The topical co-administration of both rh-BMP-2 and ZOL on β-TCP composite promoted and maintained newly formed bone structure in the bone marrow environment.


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