Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation

@article{HashemiTaheri2015RadiologicRO,
  title={Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation},
  author={Amir Pejman Hashemi Taheri and Amir Reza Radmard and Soheil Kooraki and Maryam Behfar and Neda Pak and Amir Ali Hamidieh and Ardeshir Ghavamzadeh},
  journal={Pediatric Blood \& Cancer},
  year={2015},
  volume={62}
}
Hematopoietic stem cell transplantation (HSCT) is the only known curative treatment of malignant infantile osteopetrosis (MIOP). In this study, short‐term serial bone surveys were used to assess radiologic evolution of skeletal changes after HSCT in MIOP. 
How we approach malignant infantile osteopetrosis
TLDR
In this review, the clinical management of patients with MIOP is discussed, including diagnosis, preparation for HSCT and special transplant considerations, management of unique HSCT complications, and long‐term follow-up.
Skeletal radiology following hematopoietic stem cell transplantation in infantile osteopetrosis: an overlooked assessment tool.
TLDR
This study underscores the importance of both early diagnosis and multidisciplinary approach for management, which is especially relevant for rare diseases like malignant infantile osteopetrosis that usually has a fatal course in case of no or delayed treatment.
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds
To evaluate radiological findings in a cohort of 22 patients with infantile malignant osteopetrosis in order to establish the correlation between radiological findings and different genetic
Skeletal Changes After Hematopoietic Stem Cell Transplantation in Osteopetrosis
TLDR
It is proposed that biochemical bone metabolism markers and radiological indices be routinely used to evaluate response to hematopoietic stem cell transplantation in patients with osteopetrosis.
Hematopoietic Stem Cell Transplantation: A Neonatal Perspective.
TLDR
The principles of HSCT in the very young are detailed, the current status of transplantation for relevant disorders of infancy is described, and a glimpse into future efforts at improving on current success are provided.
Malignant infantile osteopetrosis in a child with apallic syndrome
TLDR
Malignant infantile osteopetrosis in a child with apallic syndrome O.I. Sheremet, O.A. Petronchak, Yu.S.
β3-Adrenoreceptors as ROS Balancer in Hematopoietic Stem Cell Transplantation
TLDR
The current state of knowledge about the role of β3-adrenoreceptors (β3-ARs) in regulating HSCs redox homeostasis is summarized to highlight the importance of controlling reactive oxygen species levels in regulating hematopoietic stem cell differentiation.
Indications for haematopoietic stem cell transplantation for haematological diseases, solid tumours and immune disorders: current practice in Europe, 2019
TLDR
An updated report with operating definitions, revised indications and an additional set of data with overall survival at 1 year and non-relapse mortality at day 100 after transplant in the commonest standard-of-care indications is presented.
...
...

References

SHOWING 1-10 OF 22 REFERENCES
Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation
TLDR
Investigation of the radiological findings at presentation and follow-up in children undergoing bone marrow transplantation (BMT) for MIOP found improvement was apparent within 2 months of successful engraftment with almost complete resolution of abnormalities after 1 year.
Hematopoietic stem cell transplantation for infantile osteopetrosis
TLDR
It is recommended early referral for consideration of HCT with a related or unrelated donor as neurosensory manifestations of osteopetrosis are generally not reversible and donor engraftment may be easier to achieve early in the course of the disease.
Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis
TLDR
A case of successful engraftment and stable full‐donor chimerism in a patient with MIOP who underwent unrelated donor cord blood transplantation (CBT) suggests that unrelated donor CBT may be a feasible option in case of unavailability of a fully HLA‐matched related or unrelated donor.
Successful bone-marrow transplantation for infantile malignant osteopetrosis.
TLDR
Allogeneic bone-marrow transplantation appears to be the treatment of choice in this fatal disorder and vision, hearing, growth, and development were progressively improving 16 months after transplantation.
Bone Marrow Transplantation for Infantile Malignant Osteopetrosis
TLDR
BMT offers cure to patients with malignant osteopetrosis with reconstitution of bone marrow and correction of metabolic disturbances with reversibility in neurosensory deficit when BMT is done at an early age.
Long-term treatment of osteopetrosis with recombinant human interferon gamma.
TLDR
Long-term therapy with interferon gamma in patients with osteopetrosis increases bone resorption and hematopoiesis and improves leukocyte function.
Towards a better understanding and new therapeutics of osteopetrosis
TLDR
HSC‐targeted gene therapy in a mouse model of infantile malignant osteopetrosis was recently shown to correct many aspects of the disease and opens up the possibility for gene replacement therapy as an alternative.
Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course.
TLDR
Autosomal recessive osteopetrosis seems to be a variable disorder with a poor prognosis, especially in children with early visual and hematologic impairment, and allogenic bone marrow transplantation remains the only curative approach.
Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor
TLDR
RANKL-dependent patients, in particular, represent an interesting subset which could benefit from mesenchymal cell transplant and/or administration of soluble RANKL cytokine, as expected from biochemical, cellular, and animal studies.
CLINICAL MANIFESTATIONS OF GRAFT‐VERSUS-HOST DISEASE IN HUMAN RECIPIENTS OF MARROW FROM HL‐A-MATCHED SIBLING DONOR,S
TLDR
The results show that despite histocompatibility matching and methotrexate therapy, GVHD remains a serious and often fatal complication of marrow transplantation.
...
...