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About 530 results

ALLMedicine™ Hereditary Spherocytosis Center

Research & Reviews  207 results

Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Ch...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237424
BMC Pediatrics; Du Z, Luo G et. al.

Jun 30th, 2021 - Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes of HS; however, few cases of HS resu...

Clinical Features and Outcome of Children With Hereditary Spherocytosis.
https://doi.org/10.1097/MPH.0000000000002211
Journal of Pediatric Hematology/oncology; Kiliç MA, Özdemir GN et. al.

Jun 1st, 2021 - The aim of this study was to evaluate the demographics, clinical, and laboratory findings and treatment responses of patients with hereditary spherocytosis (HS). Data of children with HS were examined. Diagnosis was based on clinical history, phys...

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172196
Molecular Genetics & Genomic Medicine; Nieminen TT, Liyanarachchi S et. al.

May 5th, 2021 - We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS). Genome-wide linkage, whole-genome sequencing (WGS), Sanger sequencing, RT-PCR, and ToPO TA cloning analyses were performed. We revealed a...

Acute human parvovirus B19 infection triggers immune-mediated transient bone marrow fai...
https://doi.org/10.1111/bjh.17484
British Journal of Haematology; Elbadry MI, Khaled SAA et. al.

Apr 27th, 2021 - A total of 244 patients with hereditary haemolytic anaemias (HHA) were screened for acute symptomatic human parvovirus B19 infection (HPV-B19) in a prospective study. To assess the risks associated with HPV-B19 infection, patients were classified ...

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Clinicaltrials.gov  3 results

Distal Pancreatectomy With Partial Splenectomy for Pancreatic Tumors
https://clinicaltrials.gov/ct2/show/NCT01412684

Aug 8th, 2016 - Resectable tumors arising in the body or tail of the pancreas are malignancies or premalignancies which are surgically treated with distal pancreatectomy in combination with splenectomy. Retrieval of the lymph node tissue which lies along the sple...

Long Term Effects of Erythrocyte Lysis
https://clinicaltrials.gov/ct2/show/NCT00842621

Jun 27th, 2016 - The study will investigate the relationship between tricuspid regurgitation jet velocity (TRV) and intravascular hemolysis, as measured by serum lactate dehydrogenase (LDH), in untreated children with severe sickle cell disease (HbSS or Hb S/β°-th...

Evaluation of Feeding Intolerance in Premature Infants Using Near Infrared Spectroscopy
https://clinicaltrials.gov/ct2/show/NCT02534090

Aug 27th, 2015 - Approach Basic study design The study design is a matched-pair case-control cohort, longitudinal. Study population and assembly of patients Premature infants from 32 to 36 6/7 weeks of postmenstrual age, with feeding tolerance at least of 50ml/kg/...

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News  2 results

Blueberry Muffin Rash Secondary to Hereditary Spherocytosis
https://www.mdedge.com/dermatology/article/157898/pediatrics/blueberry-muffin-rash-secondary-hereditary-spherocytosis/page/0/1

Feb 5th, 2018 - Comment Dermal extramedullary hematopoiesis is a normal component of embryologic development up until the fifth month of gestation. 1 The term blueberry muffin rash typically is used to describe the cutaneous manifestations of extramedullary hemato.

Darier Disease: Sustained Improvement Following Reduction Mammaplasty
https://www.mdedge.com/dermatology/article/66988/darier-disease-sustained-improvement-following-reduction-mammaplasty
Cohen PR

Darier disease is an autosomal-dominant inherited genodermatosis. A woman is described who had Darier disease and hereditary spherocytosis whose inframammary Darier disease had dramatic and sustained improvement following reduction mammaplasty.

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