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  1. Article ; Online: Osteopetrosis

    Amal Khsiba / Sahar Nasr / Lamine Hamzaoui / Moufida Mahmoudi / Asma Ben Mohamed / Manel Yaakoubi / Mouna Medhioub / Mohamed Moussadek Azouz

    Future Science OA, Vol 8, Iss

    a rare case of portal hypertension

    2022  Volume 8

    Abstract: Osteopetrosis is a rare genetic bone disorder characterized by a defect in osteoclasts recruitment ... peritonitis associated with portal hypertension in a patient with osteopetrosis. ...

    Abstract Osteopetrosis is a rare genetic bone disorder characterized by a defect in osteoclasts recruitment and function. Its manifestations are numerous and they mainly include skeletal and dental deformities, cranial nerve entrapment and infections. Over time, osteoclastic expansion invades bone marrow leaving little space for hematopoietic cells. As a result, extramedullary hematopoiesis takes place in the reticular system mainly in the spleen and liver. In these patients, portal hypertension can occur as a result of extramedullary hematopoiesis associated splenomegaly. We are reporting in this article a rare case of spontaneous bacterial peritonitis associated with portal hypertension in a patient with osteopetrosis.
    Keywords anemia ; ascites ; bone marrow transplantation ; fracture ; hematopoiesis ; osteopetrosis ; Medicine ; R ; Medicine (General) ; R5-920
    Language English
    Publishing date 2022-09-01T00:00:00Z
    Publisher Future Science Ltd
    Document type Article ; Online
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  2. Article ; Online: Osteopetrosis.

    Yaga, Udayshankar / Panta, Prashanth

    The New England journal of medicine

    2017  Volume 376, Issue 16, Page(s) e34

    MeSH term(s) Child ; Female ; Humans ; Osteopetrosis/diagnostic imaging ; Radiography ; Skull/diagnostic imaging ; Tomography, X-Ray Computed ; Wrist/diagnostic imaging
    Language English
    Publishing date 2017-04-20
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMicm1609871
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  3. Article ; Online: Osteopetrosis

    V.V. Povoroznyuk / N.V. Dedukh / M.A. Bystrytska / A.S. Musiienko

    Bolʹ, Sustavy, Pozvonočnik, Vol 9, Iss 2, Pp 135-

    classification, pathomorphology, genetic disorders, clinical manifestations (literature review and clinical case report)

    2019  Volume 142

    Abstract: Osteopetrosis is a hereditary disease with an autosomal recessive or autosomal dominant type ... of osteopetrosis. Three types of osteopetrosis with different severity degrees of skeletal disorders and ...

    Abstract Osteopetrosis is a hereditary disease with an autosomal recessive or autosomal dominant type of inheritance, caused by a disruption in the functional activity of osteoclasts due to gene mutation. The article systematizes data on etiology, classification, pathomorphology, gene disorders based on the analysis of 38 sources of literature, and deals with the modern approa­ches to the treatment of osteopetrosis. Three types of osteopetrosis with different severity degrees of skeletal disorders and pathological severity are described. The main pathomorphological changes in the structural organization of bone tissue are presented and features of the state of osteoclasts are shown depending on the mutation of genes controlling their functional activity. There are no protocols for the treatment of this pathology, but treatment me­thods based on the use of hematopoietic stem cells are under development. The paper presents with clinical case report of a patient with marble bone disease.
    Keywords osteopetrosis ; classification ; pathomorphology ; osteoclasts ; gene disorders ; diagnosis ; treatment ; Medicine (General) ; R5-920
    Subject code 610
    Language English
    Publishing date 2019-04-01T00:00:00Z
    Publisher Zaslavsky O.Yu.
    Document type Article ; Online
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  4. Article: Osteopetrosis.

    Sternberg, Michael L / Myer, James R

    The Journal of emergency medicine

    2014  Volume 46, Issue 6, Page(s) e183–4

    MeSH term(s) Femoral Fractures/diagnostic imaging ; Femoral Fractures/etiology ; Femoral Fractures/therapy ; Humans ; Humeral Fractures/diagnostic imaging ; Humeral Fractures/etiology ; Humeral Fractures/therapy ; Male ; Osteopetrosis/complications ; Radiography ; Young Adult
    Language English
    Publishing date 2014-06
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 605559-x
    ISSN 0736-4679
    ISSN 0736-4679
    DOI 10.1016/j.jemermed.2013.11.108
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  5. Article ; Online: Osteopetrosis

    Theresia Santi / Kemas Firmansyah / Maria Abdulsalam

    Sari Pediatri, Vol 6, Iss 2, Pp 97-

    2016  Volume 102

    Abstract: Dilaporkan kasus osteopetrosis maligna pada seorang anak perempuan berusia 3 tahun. Kelainan yang ...

    Abstract Dilaporkan kasus osteopetrosis maligna pada seorang anak perempuan berusia 3 tahun. Kelainan yang diturunkan secara otosomal resesif ini disebabkan defek pada osteoklas. Pasien datang dengan keluhan pucat dan abses submandibula dengan perdarahan, disertai gigi yang mudah patah dan kebutaan sejak lahir, terdapat frontal bossing, adenoid appearance disertai nistagmus, serta hepatosplenomegali. Pemeriksaan darah tepi menunjukkan pansitopenia dengan gambaran leukoeritroblastosis. Aspirasi sumsum tulang sulit dilakukan karena kerasnya jaringan tulang, memperlihatkan gambaran hipoplasia sistem eritropoietik dan trombopoietik. Diagnosis ditegakkan berdasarkan bone survey yang memperlihatkan keseluruhan tulang yang sklerotik dengan peningkatan densitas tulang, disertai tanda khas berupa mask sign pada tulang tengkorak dan sandwich sign pada tulang vertebra. Dilakukan terapi suportif berupa transfusi sel darah merah dan trombosit, pengobatan medikamentosa berupa prednison dan kalsitriol. Prognosis penyakit ini buruk, dengan angka kematian yang tinggi pada dekade pertama kehidupan sebagai akibat perdarahan dan infeksi berulang.
    Keywords osteopetrosis ; defek osteoklas ; mask sign ; Medicine ; R ; Pediatrics ; RJ1-570
    Language Indonesian
    Publishing date 2016-12-01T00:00:00Z
    Publisher Badan Penerbit Ikatan Dokter Anak Indonesia
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article: Osteopetrosis.

    Jenkins, Patricia F / Prieto, Pilar / Tang, Rosa A / Yousefi, Sharin

    The American orthoptic journal

    2013  Volume 63, Page(s) 107–111

    Abstract: Osteopetrosis is a rare disease that occurs when a child has an unequal balance between new ... anemia, deafness, and blindness. We will present a case of osteopetrosis, esotropia, and amblyopia of a 7 ...

    Abstract Osteopetrosis is a rare disease that occurs when a child has an unequal balance between new bone growth and elimination of old bone. Children with this entity are able to make new bone tissue, but are not able to break down and eliminate old bones, which is essential for normal bone growth. These thickened and enlarged bones are very weak. These children can exhibit: failure to thrive, macrocephaly, anemia, deafness, and blindness. We will present a case of osteopetrosis, esotropia, and amblyopia of a 7-year-old boy and will discuss the pathophysiology and treatment.
    MeSH term(s) Amblyopia/diagnosis ; Amblyopia/etiology ; Amblyopia/physiopathology ; Child ; Diagnosis, Differential ; Esotropia/diagnosis ; Esotropia/etiology ; Esotropia/physiopathology ; Eye Movements ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging ; Male ; Osteopetrosis/complications ; Osteopetrosis/diagnosis ; Tomography, X-Ray Computed ; Vision, Binocular ; Visual Acuity
    Language English
    Publishing date 2013
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 219397-8
    ISSN 1553-4448 ; 0065-955X
    ISSN (online) 1553-4448
    ISSN 0065-955X
    DOI 10.3368/aoj.63.1.107
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  7. Article ; Online: Osteopetrosis

    Mine Özkol / Ali Er / Fatih Düzgün

    Meandros Medical and Dental Journal, Vol 16, Iss 2, Pp 67-

    A Case Report

    2015  Volume 70

    Abstract: Osteopetrosis, also called as “marble bone”, “stone bone” or “Albers-Schönberg disease” is a very ... bone resorbing osteoclasts is altered. Our patient was an 8-year-old girl who was diagnosed with osteopetrosis ... signs of osteopetrosis. The patient also had anemia, thrombocytopenia and hepatosplenomegaly and ...

    Abstract Osteopetrosis, also called as “marble bone”, “stone bone” or “Albers-Schönberg disease” is a very rare hereditary entity. In this disease, the balance between bone-forming osteoblasts and bone resorbing osteoclasts is altered. Our patient was an 8-year-old girl who was diagnosed with osteopetrosis and followed by the pediatric hematology department. She has been referred to our hospital several times with the complaints of cough, fatigue and hip and leg pain. X-ray examinations showed typical signs of osteopetrosis. The patient also had anemia, thrombocytopenia and hepatosplenomegaly and received blood transfusions several times. In these patients, usually the sign of sclerotic bone detected by x-ray establishes the diagnosis. Our patient had anemia, hepatosplenomegaly and loss of vision in addition to the typical radiologic signs. In newborns, the diagnosis of osteopetrosis can be established if osteosclerosis is associated with widening of the long bones. Since the signs were prominent in the newborn period, our patient was assumed to have autosomal recessive (OR) form of the disease which has a poorer prognosis. In conclusion, anemia, thrombocytopenia, and hepatosplenomegaly, which are common, but are not specific signs, must suggest osteopetrosis when sclerosis of bone accompanies and, the child must be given a chance for bone marrow transplantation.
    Keywords Osteopetrosis ; radiology ; Albers Schonberg disease ; Medicine ; R ; Medicine (General) ; R5-920
    Subject code 616
    Language English
    Publishing date 2015-08-01T00:00:00Z
    Publisher Galenos Yayinevi
    Document type Article ; Online
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  8. Article: Osteopetrosis.

    Khan, M N / Datta, P K / Hasan, M I / Hossain, M A / Patwary, K H / Ferdous, J

    Mymensingh medical journal : MMJ

    2011  Volume 20, Issue 4, Page(s) 715–718

    Abstract: ... of osteopetrosis were found in this patient but diagnosis were made on the basis of typical radiological finding ...

    Abstract A 15 years old Bangladeshi boy presented with hepatosplenomegaly, anaemia, multiple fractures (symptomatic and asymptomatic) without jaundice was investigated. Laboratory findings revealed leukoerythroblastic blood picture with reduced haemoglobin (7.7 gm/dl). Skeletal survey showed generalized increased bone density, sclerosed medulary space, Rugger-Jersey spine and diploic space filled with dense materials. Overlapping clinical features of both intermediate autosomal recessive and adult autosomal dominant variety of osteopetrosis were found in this patient but diagnosis were made on the basis of typical radiological finding which was mostly consistent with the adult autosomal dominant variety. The patient was treated conservatively and specialist consultation was taken in managing bony abnormalities. This patient was discharged with advised of subsequent follow-up.
    MeSH term(s) Adolescent ; Humans ; Male ; Osteopetrosis/diagnosis
    Language English
    Publishing date 2011-10
    Publishing country Bangladesh
    Document type Case Reports ; Journal Article
    ZDB-ID 2435083-7
    ISSN 1022-4742
    ISSN 1022-4742
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  9. Article: Osteopetrosis.

    Venkateshwar, V / Vaidya, Ashima / Roy, Partho / Sampat, Sangeeta / De, J K

    Medical journal, Armed Forces India

    2011  Volume 59, Issue 4, Page(s) 344–346

    Language English
    Publishing date 2011-07-21
    Publishing country India
    Document type Journal Article
    ZDB-ID 196342-9
    ISSN 0377-1237
    ISSN 0377-1237
    DOI 10.1016/S0377-1237(03)80153-3
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  10. Article: Osteopetrosis.

    Nussey, A M

    Archives of disease in childhood

    2010  Volume 13, Issue 74, Page(s) 161–172

    Language English
    Publishing date 2010-10-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 524-1
    ISSN 1468-2044 ; 0003-9888 ; 1359-2998
    ISSN (online) 1468-2044
    ISSN 0003-9888 ; 1359-2998
    DOI 10.1136/adc.13.74.161
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