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  • Paroxysmal Nocturnal Hemoglobinuria

    Replicate precision and sensitivity tests were performed on PNH patients, from undiluted to 1:10 000.[ncbi.nlm.nih.gov] In this patient, ALN-CC5 administration resulted in reduction of LDH to below 1.5 times the ULN and an over 1 g/dL increase in hemoglobin.[alnylam.com] Most patients were women (12/15) and half of them presented associated hormonal venous thrombosis risk factors. Three patients had concomitant hepatic vein thrombosis.[ncbi.nlm.nih.gov] Of course, women with PNH are one of the most complex contingent ofpregnant women, threatened by the development of obstetric and anesthetic complications, and it requires[ncbi.nlm.nih.gov] About treatment for paroxysmal nocturnal hemoglobinuria (PNH) at Children’s Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national[childrensmn.org] Abstract Chronic idiopathic neutropenia (CIN) is an acquired disorder of granulopoiesis characterized by increased apoptosis of the bone marrow (BM) granulocytic progenitor[ncbi.nlm.nih.gov] Dmytrijuk A, Robie-Suh K, Cohen MH, Rieves D, Weiss K, Pazdur R. FDA report: eculizumab (Soliris) for the treatment of patients with paroxysmal nocturnal hemoglobinuria.[nejm.org] This retrospective study was aimed at assessing the incidence and characteristics of patients diagnosed with PNH in the King Fisal Specialist Hospital and research center.[ncbi.nlm.nih.gov] The platelet count was unchanged, and enoxaparin was replaced by intravenous danaparoid adjusted to the anti-Xa activity, with a final dose of 12 000 IU per 24 hours and an[circ.ahajournals.org] In our review of the literature, nine out of 15 patients treated with thrombolysis have had a good outcome.[ncbi.nlm.nih.gov]

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  • Nail-Patella Syndrome

    RESULTS: In total, 52 living cases of NPS were identified suggesting a minimum prevalence of at least 1 in 100 000. 32 subjects from eight NPS pedigrees (four familial and[ncbi.nlm.nih.gov] Ghoumid J 1, 2 , Petit F 1, 2 , Holder-Espinasse M 1, 2, 3 , Jourdain AS 4 , Guerra J 1 , Dieux-Coeslier A 1 , Figeac M 5 , Porchet N 2, 3 , Manouvrier-Hanu S 1, 2 , Escande[ncbi.nlm.nih.gov] This was a case study of a 23-year-old young man presenting with bilateral knee pain, giving way and locking since the age of 15 years.[ncbi.nlm.nih.gov] PURPOSE: To report a case of asystole during combined epidural and general anesthesia occurring in a patient with Nail-Patella syndrome (NPS), and to review the management and anesthetic[ncbi.nlm.nih.gov] RESULTS: Eleven children (seven male/four female) were included in the study. Mean age at the time of diagnosis was 6.54 years (range 0-11 years).[ncbi.nlm.nih.gov] Furthermore, this young patient is also affected by a chronic idiopathic neutropenia usually not observed in Buschke-Ollendorf syndrome or nail-patella syndrome.[ncbi.nlm.nih.gov] This indicates that the incidence and severity of nephropathy within this family cannot be attributed to the LMX1B genotype.[ncbi.nlm.nih.gov] ORPHA:2614 Synonym(s): Onychoosteodysplasia Turner-Kieser syndrome Prevalence: 1-9 / 100 000 Inheritance: Autosomal dominant Age of onset: Neonatal , Infancy , Childhood ICD[orpha.net] Genesis 26 : 15 – 25 13 2000 A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b.[academic.oup.com] […] peripheral nervous systems - peripheral polyneuropathy and vasomotor dysfunction (uncommon) (1) Reference: (1) Hennessey TA et al.Nail-Patella syndrome: a case report and anesthetic[gpnotebook.co.uk]

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  • Chloramphenicol

    Aplastic anemia, however, is an irreversible, idiosyncratic reaction occurring in approximately 1 in 25 000 to 40 000 patients treated and is not related to dose or duration[rxmed.com] METHODS: Swabs were taken from the inferior fornix conjunctiva of the right eyes of 60 newborns 1 hour after birth.[ncbi.nlm.nih.gov] Epub 2016 Feb 15.[ncbi.nlm.nih.gov] METHODS AND RESULTS: Anesthetized pigs underwent 45 minutes of coronary artery occlusion and 3 hours of reperfusion.[ncbi.nlm.nih.gov] In small children and babies, place the drop into the inner corner of the eye.[medicinesforchildren.org.uk] Abstract We describe a patient with chronic congenital idiopathic neutropenia whose neutropenia resolved on four occasions during chloramphenicol therapy.[ncbi.nlm.nih.gov] Main outcome measure Incidence of infection.[bmj.com] Combinations of antibacterials with other drugs, including local anesthetics or vitamins, are classified at separate 5th levels in the respective antibacterial group by using[whocc.no] J Biol Chem. 2013 May 24;288(21):14709-15. doi: 10.1074/jbc.M112.446666. Epub 2013 Apr 15.[ncbi.nlm.nih.gov] BACKGROUND: Our own clinical experience of general practice over the last 15 years has indicated that chloramphenicol eye drops may have a favourable effect on many patients[ncbi.nlm.nih.gov]

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  • Seckel Syndrome

    Abstract Seckel syndrome is an autosomal-recessive disorder with a frequency of less than 1/10 000 births in which there are multiple malformations including severe short[ncbi.nlm.nih.gov] Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5.[ncbi.nlm.nih.gov] Here we report a 15-day-old girl baby diagnosed as having Seckel syndrome with tricuspid atresia.[ncbi.nlm.nih.gov] The anesthetic drugs used should be short acting.[joacp.org] Abstract In the present communication we report on a family with three children affected by Seckel-syndrome with mental deficiency, microcephaly, micrognathia and severe growth[ncbi.nlm.nih.gov] neutropenia of adults - See Idiopathic neutropenia - not a rare disease Noninflammatory corneal thining - See Keratoconus Noninvoluting congenital hemangioma - See Non-involuting[rarediseases.info.nih.gov] EMBO J. 2011; 30 :4790–804. [ PMC free article : PMC3243611 ] [ PubMed : 22020124 ] Tommerup N, Mortensen E, Nielsen MH, Wegner RD, Schindler D, Mikkelsen M.[ncbi.nlm.nih.gov] Hematologic abnormalities with associated chromosomal fragility have been noted in about 15% of the reported cases.[ncbi.nlm.nih.gov] Google Scholar Gleason, J.B., “Code switching in children’s language”, In T.E.[link.springer.com] Abstract Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth.[ncbi.nlm.nih.gov]

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  • Perianal Abscess

    […] and 20 000 people in the UK, resulting in about 12 500 operations in the NHS each year. 1 A recent Swedish cohort study estimated the incidence at 16.1 per 100 000. 2 The[bmj.com] Author information 1 Department of Surgery, Toho University Sakura Medical Center, 564-1 Shimoshizu, Sakura, Japan.[ncbi.nlm.nih.gov] Of 52 patients in 15 years, 51 were male, 45 were under 12 months, 7 had multiple tracts, and 2 recurred in 6 years; all of which points to a developmental anomaly.[ncbi.nlm.nih.gov] The abscess is opened with a surgical instrument after the child is given a local anesthetic. The pus is drained to relieve the pressure that the child feels.[childrens.memorialhermann.org] Abstract The records of 16 children presenting with a diagnosis of perianal abscess, over a 5-year period, were reviewed.[ncbi.nlm.nih.gov] Immune and idiopathic neutropenia . Curr Opin Hematol 1998; 5 :33–36. 5. Bux J , Mueller-Eckhardt G , Mueller-Eckhardt C .[nature.com] J R Coll Surg Edinb. 1992, 37: 232- PubMed Google Scholar Whiteford MH, Kilkenny J, Hyman N, Buie WD, Cohen J, Orsay C: Practice parameters for the treatment of perianal abscess[bmcsurg.biomedcentral.com] RESULTS: Of the 15 patients, 14 were cured and had no recurrence, with a median TJ-122 administration of 28 days (range, 14-117 days).[ncbi.nlm.nih.gov] The surgery is usually done on an outpatient basis, with local anesthetic and medication to induce sleepiness.[livestrong.com] Whiteford MH, et al. Practice parameters for the treatment of perianal abscess and fistula-in-ano (revised). Dis Colon and Rectum. 2005;48:1337-1342.[blog.ercast.org]

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  • Cyclic Neutropenia

    Answer the survey x Homepage Rare diseases Search Search for a rare disease Cyclic neutropenia ORPHA:2686 Synonym(s): - Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal[orpha.net] Increasing the TLp to MOb ratios to 3:1 or 5:1 progressively decreased CSA.[ncbi.nlm.nih.gov] Epub 2010 Dec 15. Author information 1 Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehang-no, Jongno-Gu, Seoul, 110-744, South Korea.[ncbi.nlm.nih.gov] […] established Use careful oral hygiene to prevent infections of the mucosa and teeth; control oral and gingival lesion pain with saline and hydrogen peroxide rinses and local anesthetic[emedicine.medscape.com] About 70% of the cases were described in children with neutropenia caused by chemotherapy and 30% were found in children with cyclic neutropenia.[ncbi.nlm.nih.gov] neutropenia of suspected drug induction, 5 cases with idiopathic neutropenia of other origin, and 2 cases with cyclic neutropenia).[ncbi.nlm.nih.gov] Pediatr Transplant 2010; 14: 937-9. 8.Barnes C, Gerstle JT, Freedman MH, Carcao MD. Clostridium septicum myonecrosis in congenital neutropenia.[jpma.org.pk] The severity and incidence of infections tended to diminish when the patient was pregnant.[ncbi.nlm.nih.gov] Epub 2016 Aug 15.[ncbi.nlm.nih.gov] Barnes C, Gerstle JT, Freedman MH, Carcao MD. Clostridium septicum myonecrosis in congenital neutropenia.[ncbi.nlm.nih.gov]

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  • Idiopathic Neutropenia

    Leukocytosis: Patients with Cancer Receiving Myelosuppressive Chemotherapy: White blood cell counts of 100‚000/mm 3 or greater were observed in approximately 2% of patients[zarxio.com] Author information 1 Haematology and Hemotherapy Center, State University of Campinas, UNICAMP, Campinas, Sao Paulo, Brazil. [email protected] Abstract Chronic idiopathic[ncbi.nlm.nih.gov] The study was carried out with 778 subjects, 392 men aged 16-78 years (median 43 years) and 386 women aged 15-79 years (median 40 years).[ncbi.nlm.nih.gov] STUDY DESIGN: The efficacy of low-dose rhG-CSF therapy was investigated in six children with symptomatic chronic idiopathic neutropenia.[ncbi.nlm.nih.gov] The Severe Chronic Neutropenia International Registry Idiopathic Neutropenia The term ‘idiopathic neutropenia’ describes various types of neutropenia that may occur at any[depts.washington.edu] الصفحة 285 - MH, et al.[books.google.com] Abstract We describe the incidence and characteristics of infections in children with severe congenital neutropenia (SCN), autoimmune neutropenia (AN) and idiopathic neutropenia[ncbi.nlm.nih.gov] The levels of the high mobility group box 1 protein (HMGB1), representing a TLR4 ligand, were significantly increased in patient LTBMC supernatants compared to controls.[ncbi.nlm.nih.gov] Bronchud MH, Potter MR, Morgenstern G, Blasco MJ, Scarffe JH, Thatcher N, Crowther D, Souza LM, Alton NK, Testa NG, Dexter TM (1988) In vitro and in vivo analysis of the effects[link.springer.com] […] urmare, saquinavirul intra la nivelul situsurilor activeale proteazelor HIV-1 si HIV-2, actionand in vitro ca un inhibitor reversibil si selectiv, cu o afinitate de circa 50 000[sfatulmedicului.ro]

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  • Linear Porokeratosis

    It is thought to represent a mosaic form of DSAP and has an incidence of less than 1 in 200 000; treatment options are limited.[ncbi.nlm.nih.gov] Arsye Dhe Mibelli Porokeratosis njëjtë, një trashëgimi autosomal dominuese, rreth 1/3 e pacientëve kanë një histori familjare, rrezet e diellit, PUVA, rrezatimi dhe faktorë[sq.swewe.net] A 15-year-old boy is presented with typical clinical lesions of linear porokeratosis on the extensor surface of the right arm exhibiting the classical histopathologic criteria[ncbi.nlm.nih.gov] The Sharplan Model 743 COz laser was used on an area anesthetized locally with 2% xylocaine.[kundoc.com] Hansen, MD Division Chief, Dermatology Phoenix Children’s Hospital Phoenix, AZ[books.google.es] Research output : Contribution to journal › Article Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry Farruggia, P., Fioredda, F. , Puccio, G.,[moh-it.pure.elsevier.com] Bhushan M, Craven NM, Beck MH, Chalmers RJG. Linear porokeratosis of Mibelli: successful treatment with cryotherapy. Br J Dermatol. 1999;141:389.[link.springer.com] RESULTS: Malignant or premalignant lesions were reported in 9 cases of PM, 15 cases of DSAP, 3 cases of PPPD, 1 case of PPPP and 21 cases of LP.[ncbi.nlm.nih.gov] […] porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border. [1] The patches usually develop in infants or young children[rarediseases.info.nih.gov] There was no incidence of similar disorder in his family. Examination showed widespread keratotic plaques.[ijdvl.com]

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  • Amegakaryocytic Thrombocytopenia

    Monozygotic twin daughters presented at birth with severe thrombocytopenia (platelet counts: 12 000/L and 14 000/L), low hemoglobin levels (104 g/L and 78 g/L), and very high[bloodadvances.org] Blood Cells Mol Dis. 2011 Jun 15;47(1):79-83. doi: 10.1016/j.bcmd.2011.03.006. Epub 2011 Apr 13.[ncbi.nlm.nih.gov] Histological typing of tumors of the thymus; pp. 9-15. 6. Masaoka A, Monden Y, Nakahara K, Tanioka T.[synapse.koreamed.org] Two children with familial amegakaryocytic thrombocytopenia underwent unrelated donor transplantation (bone marrow in one, umbilical cord blood in the second) after a preparative[ncbi.nlm.nih.gov] neutropenia ) induces a sustained increase in absolute neutrophil counts in peripheral blood and a reduction of infection and related events de Die Anwendung von Filgrastim[de.glosbe.com] [email protected]mh-hannover.de Abstract Congenital amegakaryocytic thrombocytopenia (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as isolated[ncbi.nlm.nih.gov] Furthermore, the high incidence of infection associated with the syndrome could be partially explained by hypogammaglobulinemia.[ncbi.nlm.nih.gov] [email protected]mh-hannover.de Abstract Congenital amegakaryocytic thrombocytopenia (MIM #604498) is an extremely rare inherited bone marrow failure syndrome, usually presenting[ncbi.nlm.nih.gov] There have been sporadic reports of use of fresh frozen plasma FFP) and lithium carbonate in some of these patients [14] , [15] .[jpgmonline.com] At the ages of 42 and 22 months the children underwent allogeneic bone marrow transplants, one of them with an unrelated marrow donor.[ncbi.nlm.nih.gov]

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  • Leukopenia

    Huang X 1 , Du Y 1 , Hu X 2 , Ma H 1 , Wang H 1 , You A 1 , Kang K 1 , Chen H 1 , Zhang L 3 , Liu G 1 , Xu B 1 .[ncbi.nlm.nih.gov] Patel HP 6 , Chand DH 7, 8 , Barletta GM 9 , Van Why SK 10 , VanDeVoorde RG 11 , Weaver DJ 12 , Wilson A 13 , Verghese PS 14 , Vinks AA 2, 3 , Greenbaum LA 5 , Goebel J 15[ncbi.nlm.nih.gov] The posterior iliac area is typically anesthetized with lidocaine down to the periosteum.[antimicrobe.org] During this period she was examined thoroughly and diagnosed to have chronic idiopathic neutropenia (also known as chronic benign neutropenia).[ncbi.nlm.nih.gov] However, even a neutrophil count of less than 1000 cells/µL of blood can raise the risk of infection (Beers MH 2003).[drvitaminsolutions.com] BACKGROUND: The purpose of this study was to determine the incidence and management strategies for post-transplant leukopenia/neutropenia in kidney recipients receiving alemtuzumab[ncbi.nlm.nih.gov] Yang SK 1 , Hong M 2 , Baek J 2 , Choi H 2 , Zhao W 3 , Jung Y 2 , Haritunians T 4 , Ye BD 1 , Kim KJ 1 , Park SH 1 , Park SK 1 , Yang DH 1 , Dubinsky M 5 , Lee I 6 , McGovern[ncbi.nlm.nih.gov] The patient received a kidney transplant 15 months after RLS onset and has received cyclosporine since the second post-transplant day.[ncbi.nlm.nih.gov] neutropenia; (5) malignant neoplasms ...[mhmedical.com] HLA typing results were: A1 24, B7, B35, DRB1*15, DRB1*11, DRB3*01-03, DRB5*01-02. Olanzapine may induce serious leukopenia and neutropenia.[ncbi.nlm.nih.gov]

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