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E. Vak, M.B.A., M.B.B.S., M.H.S.

Medical Instructor, University of Virginia School of Medicine

Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. Kurnik K, Bartsch I, Maul-Pavicic A, Ehl S, Sandrock-Lang K, Bidlingmaier C, et al. Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, et al. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlaklike primary immunodeficiency syndrome. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Reduced-intensity conditioning in unrelated donor cord blood transplantation for familial hemophagocytic lymphohistiocytosis. Successful treatment of acute Epstein-Barr virus infection associated with X-linked lymphoproliferative disorder with rituximab. Rituximab for lymphoproliferative disease prior to haematopoietic stem cell transplantation for X-linked severe combined immunodeficiency. New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome. Lambotte O, Neven B, Galicier L, Magerus-Chatinet A, Schleinitz N, Hermine O, et al. Association of endogenous anti-interferon-alpha autoantibodies with decreased interferon-pathway and disease activity in patients with systemic lupus erythematosus. Network analysis of associations between serum interferon-alpha activity, autoantibodies, and clinical features in systemic lupus erythematosus. Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. A hypomorphic mutation in the Gfi1 transcriptional repressor results in a novel form of neutropenia. Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b. Genotype/ phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Carlsson G, Winiarski J, Ljungman P, Ringden O, Mattsson J, Nordenskjold M, et al. Hematopoetic stem cell transplantation in neutrophil disorders: severe congenital neutropenia, leukocyte adhesion deficiency and chronic granulomatous disease. A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. Identification of novel mutation in cathepsin C gene causing Papillon-Lefevre syndrome in Mexican patients. Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. Fulminant mulch pneumonitis in undiagnosed chronic granulomatous disease: a medical emergency. Chronic granulomatous disease in an adult recognized by an invasive aspergillosis. Myeloablative transplantation using either cord blood or bone marrow leads to immune recovery, high long-term donor chimerism and excellent survival in chronic granulomatous disease. Genetic correction of X-linked chronic granulomatous disease with novel foamy virus vectors. Recurrent, multifocal Mycobacterium avium-intercellulare infection in a patient with interferongamma autoantibody. Autoimmune pulmonary alveolar proteinosis: clinical course and diagnostic criteria. Duration of benefit in patients with autoimmune pulmonary alveolar proteinosis after inhaled granulocyte-macrophage colony-stimulating factor therapy.

The core aspects of diseases in pathology Pathology is the study of disease by scientific methods. Diseases may, in turn, be defined as an abnormal variation in structure or function of any part of the body. Pathology gives explanations of a disease by studying the following four aspects of the disease. Knowledge or discovery of the primary cause remains the backbone on which a diagnosis can be made, a disease understood, & a treatment developed. There are two major classes of etiologic factors: genetic and acquired (infectious, nutritional, chemical, physical, etc). Pathogenesis Pathogenesis means the mechanism through which the cause operates to produce the pathological and clinical manifestations. Morphologic changes the morphologic changes refer to the structural alterations in cells or tissues that occur following the pathogenetic mechanisms. The structural changes in the organ can be seen with the naked eye or they may only be seen under the microscope. Those changes that can be seen with the naked eye are called gross morphologic changes & those that are seen under the microscope are called microscopic changes. Both the gross & the microscopic morphologic changes may only be seen in that disease, i. Therefore, such morphologic changes can be used by the pathologist to identify. In addition, the morphologic changes will lead to functional alteration & to the clinical signs & symptoms of the disease. Functional derangements and clinical significance the morphologic changes in the organ influence the normal function of the organ. By doing so, they determine the clinical features (symptoms and signs), course, and prognosis of the disease. In summary, pathology studies:Etiology Pathogenesis Morphologic changes Clinical features & Prognosis of all diseases. This understanding will, in turn, enable health care workers to handle & help their patients in a better & scientific way. In addition, the pathologist can use the morphologic changes seen in diseases to diagnose different diseases. Diagnostic techniques used in pathology the pathologist uses the following techniques to the diagnose diseases: a. Histopathological techniques Histopathological examination studies tissues under the microscope. Once the tissue is removed from the patient, it has to be immediately fixed by putting it into adequate amount of 10% Formaldehyde (10% formalin) before sending it to the pathologist. Once the tissue arrives at the pathology department, the pathologist will exam it macroscopically. It is then impregnated (embedded) in paraffin, sectioned (cut) into thin slices, & is finally stained. It gives the nucleus a blue color & the cytoplasm & the extracellular matrix a pinkish color. Cytopathologic techniques Cytopathology is the study of cells from various body sites to determine the cause or nature of disease. Applications of cytopathology: the main applications of cytology include the following: 1. Screening for the early detection of asymptomatic cancer For example, the examination of scrapings from cervix for early detection and prevention of cervical cancer.

Risk factors of early redialysis after weaning from postoperative acute renal replacement therapy. Demographic characteristics of pediatric continuous renal replacement therapy: a report of the prospective pediatric continuous renal replacement therapy registry. Use of continuous haemodiafiltration: an approach to the management of acute renal failure in the critically ill. Continuous renal replacement therapies: anticoagulation in the critically ill at high risk of bleeding. Continuous veno-venous hemofiltration without anticoagulation in high-risk patients. Review article: Low-molecular-weight heparin as an alternative anticoagulant to unfractionated heparin for routine outpatient haemodialysis treatments. Parenteral anticoagulants: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition). Treatment and prevention of heparin-induced thrombocytopenia: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition). Risk for heparin-induced thrombocytopenia with unfractionated and low-molecular-weight heparin thromboprophylaxis: a meta-analysis. Safety and efficacy of low molecular weight heparins for hemodialysis in patients with end-stage renal failure: a meta-analysis of randomized trials. Chronic intermittent haemodialysis and prevention of clotting in the extracorporal system. Meta-analysis: low-molecularweight heparin and bleeding in patients with severe renal insufficiency. Nafamostat mesilate: a regional anticoagulant for hemodialysis in patients at high risk for bleeding. Anticoagulation with nafamostat mesilate, a synthetic protease inhibitor, in hemodialysis patients with a bleeding risk. Superior outcome of nafamostat mesilate as an anticoagulant in patients undergoing maintenance hemodialysis with intracerebral hemorrhage. Agranulocytosis in a haemodialysed patient induced by a proteinase inhibitor, nafamostate mesilate. Enhanced blood coagulation and enhanced fibrinolysis during hemodialysis with prostacyclin. Regional citrate versus systemic heparin anticoagulation for continuous renal replacement in critically ill patients. Regional citrate versus heparin anticoagulation during venovenous hemofiltration in patients at low risk for bleeding: similar hemofilter survival but significantly less bleeding. Regional citrate versus systemic heparin for anticoagulation in critically ill patients on continuous venovenous haemofiltration: a prospective randomized multicentre trial. Regional anticoagulation with citrate is superior to systemic anticoagulation with heparin in critically ill patients undergoing continuous venovenous hemodiafiltration. A pilot randomized controlled crossover study comparing regional heparinization to regional citrate anticoagulation for continuous venovenous hemofiltration. Regional citrate anticoagulation for continuous arteriovenous hemodialysis in critically ill patients. Metabolic complications during regional citrate anticoagulation in continuous venovenous hemodialysis: single-center experience. Regional citrate anticoagulation using a citrate-based substitution solution for continuous venovenous hemofiltration in cardiac surgery patients. The use of regional citrate anticoagulation for continuous venovenous hemodiafiltration in acute kidney injury. Citrate pharmacokinetics and metabolism in cirrhotic and noncirrhotic critically ill patients. Citrate plasma levels in patients under regional anticoagulation in continuous venovenous hemofiltration. Increased total to ionized calcium ratio during continuous venovenous hemodialysis with regional citrate anticoagulation. Detection of citrate overdose in critically ill patients on citrate-anticoagulated venovenous haemofiltration: use of ionised and total/ionised calcium. Continuous renal replacement therapy in critically ill patients: monitoring circuit function. Hemostatic alterations during continuous venovenous hemofiltration in acute renal failure.

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Providing lung inflation, evidenced by good chest wall movement, is the key to successful neonatal resuscitation. Thebabycanbe handeddirectlytohisorhermother,andcoveredwith a warm towel to avoid becoming cold. However, a newborninfantwhodoesnotestablishnormalrespira tiondirectlywillneedtobetransferredtoaresuscita tion table for further assessment. Iftheinfantdoesnotstarttobreathe,oriftheheart rate drops below 100 beats/min, airway positioning andlunginflationbybreathingbymaskventilationare started. Iftheinfantcriesatbirthandestab lishes regular respiration, no resuscitation is required. Reassess heart rate every 30 s If heart rate is not detectable or slow (< 60 min-1) consider venous access and drugs Figure 9. If heart rate not responding, check mask position, neck position, is jaw thrust needed, is circuit all right, ensure adequate chest movement. Volume and drugs Consider drugs (k) if heart rate <60 beats/min in spite of adequate ventilation and chest compression, though evidence for their efficacy is lacking Rarely needed. Drugs should be given via an umbilical venous catheter, or, if not possible, via an intra-osseous needle. Giving standard doses of epinephrine (adrenaline) down the endotracheal tube does not appear to be effective, so drug dosage is increased for this route. Naloxone Infantsborntomotherswhohavereceivedopiateanal gesia within a few hours of delivery may occasionally developrespiratorydepression,whichcanbereversed by naloxone. Naloxone should not be given to babies of opiate abusing mothers as acute withdrawalsymptomsmaybeprecipitated. Very premature infants often develop respiratory dis tresssyndrome,andearlyendotrachealadministration of artificial surfactant may be indicated. An experienced paediatrician should beresponsibleforcounsellingtheparentsbeforedeliv ery,ifpossible,andleadthemanagementofthebaby afterbirth. Definitions Babies with a birthweight below the 10th centile for their gestational age are called small for gestational ageorsmallfordates(Fig. If there is no breathing or cardiac output after 10min of effective resuscitation, further effortsarelikelytobefruitlessandresuscitationshould be stopped. If prolonged resuscitation has been required,theinfantshouldbetransferredtotheneo natalunitforassessmentandmonitoring. Macrosomiais afeatureofinfantsofmotherswitheitherpermanent or gestational diabetes, or a baby with a congenital syndrome. It suggests a prolonged period of poor intrauterine growth starting in early pregnancy(orthatthegestationalageisincorrect). It isusuallyduetoasmallbutnormalfetus,butmaybe due to a fetal chromosomal disorder or syndrome, a congenitalinfection,maternaldrugandalcoholabuse or a chronic medical condition or malnutrition. In practice, distinction between asymmetrical and symmetricalgrowthrestrictionoftencannotbemade. Toanswerthis,themidwife(orthepaediatri cianorobstetrician,ifpresent)willbrieflybutcarefully check that the baby is pink, breathing normally and hasnomajorabnormalities. Ifasignificantproblemis identified, an experienced paediatrician must explain the situation to the parents. Babies are given vitamin K at birth to prevent haemorrhagic disease of the newborn unless parents will not give consent. Beforeapproachingthemotherandbaby,theobstetric and neonatal notes must be checked to identify rele vant information.