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Osteopetrosis in two siblings: two case reports

Overview of attention for article published in BMC Research Notes, January 2016
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Title
Osteopetrosis in two siblings: two case reports
Published in
BMC Research Notes, January 2016
DOI 10.1186/s13104-016-1869-x
Pubmed ID
Authors

Satish Yadav, Shiv Chalise, Shipra Chaudhary, Gauri Shankar Shah, Mukesh Kumar Gupta, Om Prakash Mishra

Abstract

Osteopetrosis is a rare inherited metabolic bone disorder characterized by extensive sclerosis of skeletons, visual and hearing impairment, hepatosplenomegaly and anemia. It has two major clinical forms: the autosomal dominant adult (benign) form is associated with milder symptoms often appearing in later childhood and adulthood whereas the autosomal recessive infantile (malignant) form has severe presentations appearing in very early childhood, if untreated, is typically fatal during infancy or early childhood. A rare autosomal recessive (intermediate) form is present during childhood with some signs and symptoms of malignant osteopetrosis. Diagnosis is mainly based on clinical and typical generalized increase in bone density. The two siblings of Indo-Aryan ethnicity, aged five and 8 years, were admitted with irregular low grade fever and gradually increasing abdominal mass for last 3 years. They also had history of hearing loss. On examination, the patients were found pale with poor nutritional status, short stature, frontal bossing and splenomegaly. We made a clinical diagnosis of hemolytic anemia and investigated accordingly. Peripheral Blood Smear was suggestive of leucoerythroblastic picture in both the siblings. We extended our investigations and radiological survey revealed generalized increase in bone density which was consistent with osteopetrosis. Osteopetrosis is a rare disease transmitted by autosomal dominant or recessive inheritance having variable penetrance. We report here milder form of disease in the two siblings having typical clinical features in the form of anemia, hepatosplenomegaly and hearing loss. Diagnosis was confirmed by typical generalized increase in bone density in both the patients.

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The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 6 21%
Student > Bachelor 5 17%
Other 4 14%
Student > Doctoral Student 3 10%
Student > Postgraduate 3 10%
Other 4 14%
Unknown 4 14%
Readers by discipline Count As %
Medicine and Dentistry 13 45%
Nursing and Health Professions 2 7%
Social Sciences 2 7%
Business, Management and Accounting 1 3%
Environmental Science 1 3%
Other 4 14%
Unknown 6 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 February 2016.
All research outputs
#15,355,821
of 22,842,950 outputs
Outputs from BMC Research Notes
#2,314
of 4,266 outputs
Outputs of similar age
#233,043
of 396,346 outputs
Outputs of similar age from BMC Research Notes
#77
of 129 outputs
Altmetric has tracked 22,842,950 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,266 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.5. This one is in the 33rd percentile – i.e., 33% of its peers scored the same or lower than it.
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We're also able to compare this research output to 129 others from the same source and published within six weeks on either side of this one. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.