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Familial Neutropenia


Presentation

  • AB - Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition.[moh-it.pure.elsevier.com]
  • American Journal of Pediatric Hematology/Oncology: October 1991 Article: PDF Only Abstract Three siblings with alloimmune neonatal neutropenia are presented.[journals.lww.com]
  • 500/dl) was found in 13% of the EE study group significantly higher than the two other groups ( P P Conclusion: On the one hand, findings point to a marked environmental influence on the eosinophilic response (most probably due to intestinal parasites present[tandfonline.com]
  • Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables.[books.google.com]
  • This reference guide will be the must-have of any internist or medical professional, as it takes a vast quantity of data across a sweeping grid of disorders, diseases, and presentations, and boils them down to individual parts, facilely indexed, and located[books.google.com]
Pediatric Disorder
  • It is useful for the diagnosis of pediatric disorders in the bone marrow as a guide for pediatric pathologists, hematologists, oncologists and medical technologists or any physician involved in the diagnosis of pediatric bone marrow disorders.[books.google.de]
Weight Gain
  • gain Wheezing Wheezing pediatric age4 Wrist and hand pain in different age groups8 Wrist pain Xerophthalmia28 Xerostomia28 Yellow urine Abuse child Abuse geriatric Acetaminophen poisoning Acidbase homeostasis Acidosis metabolic Acidosis respiratory acute[books.google.com]
Arm Pain
  • pain Neck mass28 Neck pain28 Necrotizing pneumonias1 Nephritic syndrome acute1 Nephrocalcinosis Neurogenic bladder29 Neurologic deficit focal26 Neurologic deficit multifocal26 Neuronopathies sensory ganglionopathies2 Neuropathic bladder Neuropathies[books.google.com]
Jaundice
  • Jaundice classification1 Jaundice neonatal1 Joint pain anterior hip medial thigh knee28 Joint pain hip lateral thigh28 Joint pain polyarticular Joint pain posterior hips thigh buttocks28 Joint swelling Jugular venous distention Keratitis noninfectious[books.google.com]
Cyanosis
  • […] disease Constipation ICD9CM Contraceptive use oral Convulsive disorder suspected pediatric age Corneal disorders ICD9CM Coronary artery disease unstable Cough chronic Creatine kinase elevation Cushings syndrome Cutaneous microvascular occlusion syndromes Cyanosis[books.google.com]
Diastolic Murmur
  • Murmur systolic Muscle cramps and aches Muscle weakness ICD9CM Myelodysplastic syndromes Myocardial ischemia suspected Myopathy statininduced Myositis Nail dystrophy Neck mass Neck pain ICD9CM Nephrolithiasis Neuropathic pain Neutropenia Nonhodgkins[books.google.com]
Dry Eyes
  • eye Dyspareunia12 Dysphagia Dysphagia oropharyngeal38 Dyspnea Dysuria Earache33 Edema children19 Edema generalized Edema leg unilateral26 Ejection sound or click Elbow pain Elevated hemidiaphragm Emboli arterial26 Emesis pediatric age19 Encephalomyelitis[books.google.com]
Ankle Pain
  • Eyelid neoplasm Eyelid retraction Eye pain Facial pain Failure to thrive Fatigue Fatty liver Fever and jaundice Fever and rash Fever in returning travelers and immigrants28 Fever noninfectious causes2 Finger lesions inflammatory Flushing27 Foot and ankle[books.google.com]
Sexual Dysfunction
  • dysfunction female1 Sexually transmitted diseases anorectal region26 Sexual precocity41 Shoulder pain Shoulder pain by location Shoulder pain in different age groups8 Small bowel masses38 Small intestine ulceration Smell disturbance Spastic paraplegias[books.google.com]
Pruritus Vulvae
  • vulva Pseudogout Pseudohermaphroditism Psychotic patient Puberty delayed Pulmonary embolism Pulmonary nodule Purpura palpable Reactive erythema pediatric patient ICD9CM Renal artery stenosis Renal disease ischemic management ICD9CM ICD9CM Respiratory[books.google.com]
Papilledema
  • Osteoporosis secondary causes Osteosclerosis diffuse16a Ovulatory dysfunction21 Pain midfoot Pain plantar aspect heel Pain posterior heel Palindromic rheumatism6 Palmoplantar hyperkeratosis Pancreatic calcifications Pancreatitis druginduced2 Pancytopenia20 Papilledema[books.google.com]
Mydriasis
  • […] nonocclusive26 Metastatic neoplasms Microcephaly4 Micropenis27 Miosis Monocytosis20 Mononeuropathy Mononeuropathy isolated2 Mononucleosis monospot negative1 Muscle disease34a Muscle weakness Muscle weakness lower motor neuron versus upper motor neuron40 Mydriasis[books.google.com]
Spastic Paraplegia
  • paraplegias Spinal cord compression epidural Spinal cord dysfunction nontraumatic2 Spinal cord ischemic syndromes Splenomegaly Splenomegaly and hepatomegaly38 Splenomegaly children20 Steatohepatitis Stridor pediatric age4 Stroke36 Stroke pediatric age23[books.google.com]

Workup

  • Obtaining a history of infections may aid in the current diagnostic workup. Obtaining a careful drug history may reveal the offending agent and spare the patient from an extensive diagnostic workup.[odlarmed.com]
  • Obtaining a history of infections may aid in the current diagnostic workup. A history of periodically recurring infections is suggestive of cyclic neutropenia.[emedicine.medscape.com]
  • Segel's Pediatrics In Review article (see references) is a good guide in terms of what interventions and workup may be needed: The decision surrounding treatment and potential hospitalization depends on the l ikelihood of bacterial infection , the location[pedclerk.bsd.uchicago.edu]
  • The workup of such patients should include a complete screening for differential diagnosis, cytogenetic analysis, an expert review of the bone marrow smears, and the help of emerging diagnostic tools such as flow cytometry and molecular biology.[mjhid.org]
  • Click figure to enlarge Once acquired neutropenia is ruled out, the workup should establish the type of inherited neutropenia.[psychiatrist.com]
Mediastinal Mass
  • masses or widening on chest xray Mediastinitis acute25 Melanonychia Memory loss symptoms elderly patients Meningitis chronic26 Meningitis recurrent25 Mental status changes and coma2 Mesenteric arterial embolism associated factors2 Mesenteric ischemia[books.google.com]
Atelectasis
  • […] monoarticular and oligoarticular2 Arthritis pediatric age19 Arthritis polyarticular Ascites Asthenia Asthma childhood4 Ataxia Ataxia acute or recurrent11 Ataxia cerebellar adult onset34a Ataxia cerebellar children34a Ataxia chronic or progressive11 Atelectasis[books.google.com]
Neutrophil Count Decreased
  • O f t hese, 12 articles described patients with benign ethnic neutropenia whose neutrophil count decreased during treatment with clozapine.[psychiatrist.com]

Treatment

  • The role of granulocyte colony-stimulating factor in which was used in the treatment of these patients remains to be established.[ncbi.nlm.nih.gov]
  • Treatment Basic information Diagnosis Treatment Basic information Diagnosis Treatment Pearls considerations Basic information Diagnosis Treatment Pearls considerations Basic information Diagnosis Treatment Pearls considerations Basic information Diagnosis[books.google.com]
  • The purpose of this report is to describe dental findings and treatment of an 11-year old male patient and a 5-year old female patient, children of first cousins, suffering from severe benign congenital chronic familial neutropenia.[ncbi.nlm.nih.gov]
  • Practical, bulleted, highly templated text with easy-to-use features including flow charts and treatment boxes.[books.google.de]
  • Abstract T he periodontal status and treatment of three teenagers in a Finnish family with familial neutropenia is described. The mother was also diagnosed with neutropenia.[joponline.org]

Prognosis

  • The prognosis of the patient is related both to the etiology of the neutropenia, as well as to the nadir of the neutrophil count.[mdedge.com]
  • Hematology, also spelled haematology, is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood. [1] [2] It involves treating diseases that affect the production of blood and its[en.wikipedia.org]
  • Prognosis The prognosis for mild or chronic neutropenia is excellent. Recovery from acute neutropenia depends on the severity of the patient's infection and the promptness of treatment. Resources Books Linker, Charles A. "Blood."[medical-dictionary.thefreedictionary.com]
  • Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.[mayocliniclabs.com]
  • Overview Historical Perspective Classification Pathophysiology Causes Differentiating Neutropenia from other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Diagnosis History and Symptoms Physical[wikidoc.org]

Etiology

  • Etiologies There are various acquired and inherited etiologies that can account for fever and non-chemotherapy-induced neutropenia in children. In general, the acquired neutropenias are considered first because they are most common.[pedclerk.bsd.uchicago.edu]
  • Etiology The etiologies of neutropenia in pediatrics are diverse. The most common causes of neutropenia are acquired.[learn.pediatrics.ubc.ca]
  • The etiology of neutropenia can conceptually be viewed in two broad ways, by mechanism or etiologic category. The mechanisms that cause neutropenia are varied and not completely understood.[emedicine.medscape.com]
  • CINA with severe neutropenia Very little data are available bearing on the etiology of neutropenia in patients with CINA and severe neutropenia.[cancertherapyadvisor.com]
  • The prognosis of the patient is related both to the etiology of the neutropenia, as well as to the nadir of the neutrophil count.[mdedge.com]

Epidemiology

  • “Changing epidemiology of infections in patients with neutropenia and cancer: emphasis on gram-positive and resistant bacteria”.[clinicaladvisor.com]
  • Key words Chronic idiopathic neutropenia of adults (CINA) Epidemiology Leukocytes Perennial rhinitis This is a preview of subscription content, log in to check access. Preview Unable to display preview. Download preview PDF.[link.springer.com]
  • Overview Historical Perspective Classification Pathophysiology Causes Differentiating Neutropenia from other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Diagnosis History and Symptoms Physical[wikidoc.org]
  • Forty-two articles described the epidemiology, pathobiology, and management of BEN and included 12 articles focusing on patients with BEN who developed decreased ANC during treatment with clozapine.[psychiatrist.com]
  • The epidemiology of benign leukopenia in Yemenite Jews. Isr J Med Sci. 1993 ;29: 297 – 299. ] Eosinophilia was found in 14% of the Ethiopian immigrants to the US,[ 14 Parenti DM, Lucas D, Lee A, et al.[tandfonline.com]
Sex distribution
Age distribution

Pathophysiology

  • Overview Historical Perspective Classification Pathophysiology Causes Differentiating Neutropenia from other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Diagnosis History and Symptoms Physical[wikidoc.org]
  • Pathophysiology The pathophysiology of CINA is not well defined. This is partly a reflection of the heterogeneity of the disorder. Available information is discussed briefly below.[cancertherapyadvisor.com]
  • The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure. Cell Cycle 2003;2:447–451. Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M.[synapse.koreamed.org]
  • Provides details on pathophysiology, mutations and management of different types of congenital and acquired neutropenia.) Bodey, GP, Buckley, M, Sathe, YS.[clinicaladvisor.com]
  • The exact pathophysiology of lamotrigine-induced neutropenia is unknown (4). A literature review produced several reports of lamotrigine-induced neutropenia that reversed upon drug discontinuation (5–7).[ww1.cpa-apc.org]

Prevention

  • 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]
  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • […] and early detection of cervical cancer: American Cancer Society, American Society for Colposcopy and Cervical Pathology, and American Society for Clinical Pathology screening guidelines for the prevention and early detection of cervical cancer.[nccn.org]
  • Overuse of preventive regimens contributes to the development of treatment resistant strains of microbes. The preferred preventive drugs are an oral fluoroquinolone for bacteria and an oral triazole for fungi.[asco.org]

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