Symptoma

Genetic Anomaly of Leukocytes

We present herein a case of May-Hegglin anomaly in pregnancy. The characteristic features of this anomaly, clinical presentation, and management options are discussed. [ncbi.nlm.nih.gov]

(Leishman stain, 1000) Click here to view The basophilic inclusion bodies which were also present in the granulocytes of the bone marrow were identified as Dφhle bodies. [ijpmonline.org]

Case Presentation A 29 year-old female presented to the emergency department with acute onset of right upper extremity muscle weakness, paresthesia, and aphasia of five-hour duration, suggestive of an acute left-sided cerebrovascular accident. [austinpublishinggroup.com]

  • Easy Bruising

    Clinical findings Recurrent epistaxis, gingival bleeding, easy bruising, menorrhagia, excess bleeding post-surgery. Management Most patients are asymptomatic; corticosteroids, splenectomy are ineffective; platelet transfusions may be needed. [medical-dictionary.thefreedictionary.com]

    Patients often experience easy bruising, nosebleeds, and, in women, excessive menstrual bleeding. [pdsa.org]

    People with MYH9 -related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9 -related disorder are larger than normal. [ghr.nlm.nih.gov]

    Besides easy bruising and some older pretibial haematomas, history and physical examination were normal. [slideheaven.com]

    Symptoms of bleeding can include the following: Recurrent epistaxis Gingival bleeding Easy bruising Menorrhagia Excessive bleeding associated with surgical procedures Postpartum hemorrhage Physical findings are often normal. [emedicine.medscape.com]

  • Long Arm

    They can be caused by a number of different mutations that occur within the MYH 9 gene located on the long arm of chromosome 22 which encodes the 224-kD non-muscle myosin heavy chain IIA (MYHIIA) polypeptide. [2] MHA is by far the commonest among the [ijpmonline.org]

  • Psychomotor Retardation

    Our study patients had recurrent thrombocytopenia with giant platelets, psychomotor retardation, nephropathy, an abnormal gait, and a speech defect. [sjkdt.org]

  • Headache

    Headaches are common and severe headaches have been associated with aseptic meningitis. Severe headache occurring while the patient is still thrombocytopenic often leads to head CT scan to rule out intracranial hemorrhage. [clinicaladvisor.com]

    Apart from mild dehydration, he had no rashes or headache (dengue triad). Physical examinations were unremarkable with no evidence of hepatosplenomegaly or lymphadenopathy. Mr. [ghrnet.org]

    Headaches and other neurological symptoms. These are very rare, but they should be discussed with a doctor. Diagnosis Your doctor will diagnose thrombocytopenia based on your medical history, a physical exam, and test results. [daviddarling.info]

  • Abnormal Gait

    Our study patients had recurrent thrombocytopenia with giant platelets, psychomotor retardation, nephropathy, an abnormal gait, and a speech defect. [sjkdt.org]

A cell blood count is essential in starting a workup in these patients. The platelet count is decreased, usually between 40,000-80,000mm 3. [faoj.org]

We present two cases of May-Hegglin anomaly incidentally discovered in a patient and his brother during investigation of the patient for end-stage renal failure and workup for renal transplantation. [scinapse.io]

[…] that may be helpful include the following: Complete blood count (CBC) Assessment of platelet size, volume, and morphology Peripheral blood smear Immunocytochemistry of leukocytes (demonstrating NMMHCIIA complexes, for confirmation) Bleeding time See Workup [emedicine.medscape.com]

This will minimize maternal and neonatal bleeding risks and secure the best treatment options. [statpearls.com]

(5 treatment strategies) DDAVP (Not for Type 3); VWF -containing concentrates; Antifibrinolytic drugs (Aminocaproic Acid, Tranexaminc Acid); Topical therapy with thrombin or fibrin sealant; and Estrogen therapy in some settings in women Treatment of [imreference.com]

A rapid response to these therapies supports the diagnosis of ITP; failure to respond to treatment should lead to further investigation of alternate causes of a low platelet count. [pdsa.org]

Treatment of life-threatening bleeding Treatment of life-threatening bleeding is designed to increase the platelet count as rapidly as possible. Recommendations for treatment are based almost exclusively on case reports. [clinicaladvisor.com]

What treatment is available? The choice of treatment depends upon the severity of the platelet count, its cause and whether or not there is any bleeding. [netdoctor.co.uk]

Prognosis The prognosis is very variable and will depend on the underlying condition. [patient.info]

Secondary idiopathic thrombocytopenic purpura Secondary ITP due to other autoimmune or viral processes has a prognosis directly related to the underlying disorder. [cancertherapyadvisor.com]

A genetic diagnosis is mandatory for a correct prognosis of nonhematologic complications, kidney failure, in particular, for the treatment or prophylaxis. [omicsonline.org]

What should you tell the patient and the family about prognosis? N/A “What if” scenarios. N/A Pathophysiology Thrombocytopenia may be due to many causes. The etiology can be anticipated by the history. [oncologynurseadvisor.com]

The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. [arts.units.it]

The etiology can be anticipated by the history. [oncologynurseadvisor.com]

Quantitative platelet disorders have varied etiology. [labcorp.com]

In addition to the platelet count, other values included in the CBC can help point to underlying etiology. [cancertherapyadvisor.com]

Epidemiology May Hegglin anomaly is a rare disease with a few reported cases. It was first described by german doctor May in 1909 and then in 1945 by doctor Hegglin from Switzerland. [statpearls.com]

Although no epidemiological study has so far been performed, inherited thrombocytopenias are considered to be very rare based on the number of case reports in the literature. [scinapse.io]

Manstein & Nataliya Di Donato Nature Communications (2018) Inherited Macrothrombocytopenia: Correlating Morphology, Epidemiology, Molecular Pathology and Clinical Features Kanjaksha Ghosh, Maitreyee Bhattacharya, Ranjini Chowdhury, Kanchan Mishra & Malay [nature.com]

Epidemiology MYH9RD is a very rare disease. The Italian Registry includes 180 affected individuals. The prevalence of the disorder in Italy is 3:1,000,000. In all individuals macrothrombocytopenia is present at birth. [omicsonline.org]

Epidemiology of Dengue Disease in Malaysia (2000–2012): A Systematic Literature Review. PLoS Negl Trop Dis 2014; 8(11): e3159. 7. Zuberi AZ, Ahmed BN, Iqbal S, Page S. [ghrnet.org]

Platelet kinetic studies have been performed to determine the pathophysiologic mechanisms in various thrombocytopenic states, particularly in complicated clinical situations. [accessmedicine.mhmedical.com]

Pathophysiology 1. Thrombocytopenia due to a microangiopathic condition requires immediate attention and treatment. Significant advances in understanding the pathophysiology of these processes have been made in the last 10-20 years. [cancertherapyadvisor.com]

Seminars in Fetal & Neonatal Medicine2016,Vol 21(1):10 What we see as the essence: "The review summarises the pathophysiology and current management (including platelet transfusion thresholds) of neonatal thrombocytopenia. [sysmex.ch]

Use a soft toothbrush to prevent bleeding gums. Wear a seatbelt in the car, and put on gloves and goggles when you work with power tools to prevent injury. [webmd.com]

Prevention Whether you can prevent thrombocytopenia depends on its specific cause. Most cases of the condition can't be prevented. However, you can take steps to prevent its complications. Avoid heavy drinking. [daviddarling.info]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

It is important to identify at-risk infants with this condition and to initiate therapy to prevent related complications, if needed, in a multidisciplinary team approach. neonatal health preventative paediatrics materno-fetal medicine congenital disorders [casereports.bmj.com]

As such, detailed history taking and careful examination of peripheral blood film may help to prevent such misdiagnoses. [ghrnet.org]