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Diamond-Blackfan Anemia Type 13

Aase Syndrome


Presentation

  • Silberstein, MD, Helen Heslop, MD, Jeffrey Weitz, MD, John Anastasi, MD, and a host of world-class contributors present the expert, evidence-based guidance you need to make optimal use of the newest diagnostic and therapeutic options.[books.google.com]
  • OMIM : 58 Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life.[malacards.org]
  • Anemia was present at birth or shortly after birth. Hepatosplenomegaly was present in all. Four had short stature.[cags.org.ae]
  • This case report pointed out that a late onset anemia presenting in an adult patient is not incompatible with a genetic-in-origin disease with an atypical presentation.[ncbi.nlm.nih.gov]
  • Presentation [ 1 ] The severity of symptoms is variable but is often severe and life-threatening. Usually it presents in the first few months of life when a young child develops a severely hypoplastic macrocytic anaemia.[patient.info]
Dysphagia
  • She showed trigeminal nerve palsy, bilateral mixed hearing loss, rhinolalia, dysarthria and acquired dysphagia for solid foods. She suffers by severe neck pain.[frontiersin.org]
  • 3 1 Myopathy, Congenital, Compton-North 4 Myopathy, Distal, 1 3 Myopathy, Distal, 2 3 Myopathy, Distal, 4 2 Myopathy, Distal, Tateyama Type 1 Myopathy, Distal, With Anterior Tibial Onset 3 Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia[preventiongenetics.com]
Ankylosis
  • ., 2010 ), abnormal insertion of the tensor tympani tendon, ankylosis of the ossicules, and anomalous stapedial footplates, most of which can be related to anomalies of the branchial arches.[frontiersin.org]
  • Type 1 Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 2 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 2 Spondylometaphyseal Dysplasia, Kozlowski Type 1 Spondyloperipheral Dysplasia 3 Spongy Degeneration Of Central Nervous System 1 Stapes Ankylosis[preventiongenetics.com]
Osteophyte
  • Upon birth, the displaced AOA and the overall shift in the head's balance could cause progressive growing of osteophytes, gradually constrain the bulb and the spinal cord.[frontiersin.org]
Neck Pain
  • She suffers by severe neck pain. Functional limitations in shoulder abduction were detected with lower limbs antigravity muscle weakness and decreased functional ability. Reflexes were normal, except for a bilateral indifferent plantar response.[frontiersin.org]
Atlanto-Axial Instability
  • ., 2017 ) appeared increased (10 mm) suggesting an atlanto-axial instability (AAI) (Figure 1A ), defined for atlanto-dental interval 3 mm ( Gamble and Rinsky, 1985 ; Ferreira and Botelho, 2015 ). Figure 1.[frontiersin.org]
Distractibility
  • Mandibular distraction osteogenesis in a neonate. Arch. Otolaryngol. Head Neck Surg. 125, 1029–1032. doi: 10.1001/archotol.125.9.1029 PubMed Abstract CrossRef Full Text Google Scholar Kisker, C., Schindelin, H., Pacheco, A., Wehbi, W.[frontiersin.org]
Amenorrhea
  • She also had several endocrinological alterations as primary amenorrhea, mild hyper-prolactinaemia and moderate familiar hyper-cholesterolaemia.[frontiersin.org]
Primary Amenorrhea
  • She also had several endocrinological alterations as primary amenorrhea, mild hyper-prolactinaemia and moderate familiar hyper-cholesterolaemia.[frontiersin.org]
Dysarthria
  • She showed trigeminal nerve palsy, bilateral mixed hearing loss, rhinolalia, dysarthria and acquired dysphagia for solid foods. She suffers by severe neck pain.[frontiersin.org]
  • Familial Neonatal, 2 5 Seizures, Cortical Blindness, Microcephaly Syndrome 1 Sengers syndrome 3 Senior-Loken Syndrome 4 2 Senior-Loken Syndrome 5 5 Senior-Loken Syndrome 6 5 Senior-Loken Syndrome 7 4 Senior-Loken Syndrome 8 2 Sensory Ataxic Neuropathy, Dysarthria[preventiongenetics.com]
Dysmetria
  • In addition, skeletal malformations consisted mainly of short stature, right-convex thoracic scoliosis with dorsal hump, hip dysmetria with heterometry of lower limbs, shortness and clinodactyly of fingers with hypoplasia of the distal phalanges of 1th[frontiersin.org]
Neurologic Manifestation
  • The patient's CCJ imbalance (due to skull-cervical spine malformation), coupled with the lack of stable articular joints, exposes her to a high risk of sudden neurological manifestations.[frontiersin.org]
Meningism
  • ., 2006 ), without malformations neither of the meninges nor of the nervous system.[frontiersin.org]

Workup

  • The characteristics of PRCA (see Workup ) include the following: Severe anemia Reticulocyte count The presence of less than 0.5% mature erythroblasts in the bone marrow Normocellular bone marrow in most cases The etiology of PRCA is heterogeneous.[emedicine.medscape.com]
  • A convenient way to organize and think through the workup of an anemic infant would be: 1.[oncologynurseadvisor.com]
  • If an increasing trend in ferritin levels is noted, then compliance is questioned and further workup to assess the iron overload is warranted.[bloodjournal.org]

Treatment

  • Recursion Pharmaceuticals has developed a drug discovery platform that seeks to re purpose known drugs for the treatment of such diseases The platform consists of high content immunofluorescent image analysis using machine learning algorithms to identify[sbir.gov]
  • Abstract DESCRIPTION (provided by applicant): There are thousands of rare genetic diseases that have no approved treatment.[sbirsource.com]
  • The Hematology: Diagnosis and Treatment eBook is the ideal mobile resource in hematology ! It distills the most essential, practical information from Hematology: Basic Principles and Practice, 6th Edition - the comprehensive masterwork by Drs.[books.google.com]
  • Management and treatment The two main therapeutic approaches are regular transfusions and long-term corticosteroid therapy. Treatment must be adapted to each case and according to the age of the patient.[orpha.net]
  • Current treatment options, including steroid treatments and chronic transfusions, can lead to significant morbidity.[medicalxpress.com]

Prognosis

  • Prognosis The prognosis is generally good. However, complications of treatment and a higher incidence of cancer may reduce life expectancy. Disease severity depends on the quality and response to treatment.[orpha.net]
  • Prognosis Prognosis varies among the different types of pure red cell aplasia (PRCA). Transient erythroblastopenia and other PRCA disorders in children and adults are benign with an excellent prognosis.[emedicine.medscape.com]
  • Furthermore, clinicians require an accurate knowledge of the clinical and laboratory presentation, mode of inheritance, treatment response, outcomes and prognosis to make important diagnostic treatment and reproductive decisions.[clinicaltrials.gov]
  • […] steroids or blood transfusions. [ 13 ] Complications Side-effects from long-term steroids and iron overload associated with repeated blood transfusions. [ 11 ] There is an increased risk of malignancies, including solid tumours and leukaemias. [ 6 , 14 ] Prognosis[patient.info]

Etiology

  • The patients were on chronic systemic adrenal corticosteroid therapy for their anemia, which caused some confusion regarding the etiology of their glaucoma.[healio.com]
  • Etiology At present, disease-causing mutations are identified in 40-45% of patients.[orpha.net]
  • It may be acquired through: immune etiologies(Rh, ABO or other blood group incompatibility, maternal autoimmune, drugs) infectious etiologies(bacterial sepsis, rubella, CMV, disseminated herpes simplex virus, adenovirus, toxoplasmosis, malaria, syphilis[oncologynurseadvisor.com]
  • Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin. Orthop. Relat.[frontiersin.org]
  • The characteristics of PRCA (see Workup ) include the following: Severe anemia Reticulocyte count The presence of less than 0.5% mature erythroblasts in the bone marrow Normocellular bone marrow in most cases The etiology of PRCA is heterogeneous.[emedicine.medscape.com]

Epidemiology

  • DESIGN NARRATIVE: The objective of this study is to expand and update the DBAR in order to: 1) facilitate investigations into the epidemiology and biology of Diamond Blackfan anemia; 2) provide an accurate phenotype of DBA patients to facilitate genotype[clinicaltrials.gov]
  • Summary Epidemiology Annual incidence in the general population of Europe is estimated at around 1/150,000. Both sexes are equally affected and no ethnic predisposition has been identified.[orpha.net]
  • Syndrome 1160 137 Neuroprotective Strategies 1173 138 Cerebral Hemorrhage 1180 139 Neonatal Arterial Stroke 1192 140 Neonatal Seizures 1199 141 The Timing of Neonatal Brain Damage 1208 142 Thrombosis in the Development of Newborn Brain Damage 1216 143 Epidemiology[books.google.de]
  • […] sporadic, approximately 10-25% are familial, with most showing autosomal dominant inheritance. [ 4 ] Leukocyte and platelet counts are normal or slightly reduced. [ 5 ] The exact cause is not clear but there is a disorder of ribosome biogenesis. [ 6 ] Epidemiology[patient.info]
  • Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac.[frontiersin.org]
Sex distribution
Age distribution

Pathophysiology

  • 699 92 Meconium Plug Syndrome 704 93 Hirschsprungs Disease 708 94 Gastroenteritis and Intractable Diarrhea 713 95 Rehydration after Diarrhea 719 96 Necrotizing Enterocolitis 724 97 Surgical Treatment of Necrotizing Enterocolitis 731 Overview 735 99 Pathophysiology[books.google.de]
  • This review will cover the history of the EuroDBA registries, the methods used by EuroDBA in the diagnosis of DBA, and how the consortium has successfully worked together towards the discovery of new DBA-linked genes and the better understanding their pathophysiological[iris.unito.it]
  • ., M.D. [1] Overview Pathophysiology Genetics Approximately 10-25% of DBA cases have a family history of disease, and most pedigrees suggest an autosomal dominant mode of inheritance.[wikidoc.org]
  • From our studies we conclude that a modest increase of GCase activity by enforced expression of GBA, primarily in tissue macrophages, effectively reverses pathophysiological symptoms in GD type 1 mice.[lup.lub.lu.se]
  • Blood (1998) [ Pubmed ] Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.[wikigenes.org]

Prevention

  • […] might have had an unclear role in that hypogammaglobulinemia (57). details Stacy and Steve Trebing's decision to create a baby selected as an embryo that was a genetic match for their child suffering from Diamond-Blackfan anemia , a fatal disease that prevents[acronymfinder.com]
  • Have certain intestinal diseases or disorders that prevent your body from properly absorbing vitamin B12. Take medicines that prevent your body from properly absorbing vitamin B12.[health24.com]
  • Prevention As iron deficiency is the most common cause of childhood anaemia in the Western world, the main focus for prevention of this needs to be on education around childhood nutrition.[patient.info]
  • Medication may be given before the next transfusion to help prevent these symptoms. Red cell transfusions can also cause a build-up of extra iron in the body which can harm the heart and/or liver, cause diabetes, or slow down normal growth.[dbafoundation.org]
  • DBA, caused by a failure within the bone marrow that prevents the body from producing red blood cells, can make sufferers more susceptible to up to five types of cancer. Leona and Hugh Smith-Kerr with their daughters Freyja and Merlyn.[dailymail.co.uk]

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