scholarly journals HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS IN ADULTS: LOW INCIDENCE OF PRIMARY NEOPLASM AS A TRIGGER IN A CASE SERIES FROM TURKEY

2018 ◽  
Vol 10 (1) ◽  
pp. e2018047
Author(s):  
Ferhat Arslan
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Laboratory Data ◽  
Case Series ◽  
Rheumatologic Diseases ◽  
Primary Neoplasm ◽  
The Mean ◽  
Time To Detection ◽  
Low Incidence ◽  
Turkish Patients ◽  
Erythrocyte Sedimentation Rates

This study aimed to investigate the clinical and laboratory features and outcomes of Turkish patients with Hemophagocytic Lymphohistiocytosis. The medical records of 26 HLH adult patients (≥ 16 years of age) were retrospectively analyzed. Gender, age, the duration of fever, time to diagnosis, etiology and laboratory data were extracted from the records. The mean age was 38 ± 18 years, and 15 (58%) patients were female. A total of nine cases had infectious diseases, four cases had rheumatologic diseases, three cases had hematological malignancies while nine cases could not be obtained a definitive diagnosis. The median time to detection of HLH was 20 days (IQR: 8-30 d). Of the 25 patients, 11 (44%) died. The erythrocyte sedimentation rates of the surviving and non-surviving patients were 39 ± 22 mm/h and 15 ± 13 mm/h, respectively. When a long-lasting fever is complicated by bicytopenia or pancytopenia (especially), clinicians must promptly consider the possibility of HLH syndrome to improve patients’ prognosis

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

2020 ◽  
Vol 33 (1) ◽  
pp. 157-163 ◽  
Author(s):  
Melis Demir Köse ◽  
Mehtap Kagnici ◽  
Taha Reşit Özdemir ◽  
Cahit Barış Erdur ◽  
Gülin Erdemir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Genetic Disorder ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Clinical Findings ◽  
First Case ◽  
Age Related ◽  
Citrin Deficiency ◽  
Turkish Patients

AbstractBackgroundCitrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today.Case presentationWe reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia.ConclusionsTwo different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.

scholarly journals Pleuropulmonary Blastoma: A Single-center Case Series of 7 Patients

2020 ◽  
Author(s):  
M Masood Sidiqi ◽  
Ling Xu ◽  
parshotam gera ◽  
Colin Kikiros
Keyword(s):  
Case Series ◽  
Pleuropulmonary Blastoma ◽  
Type I ◽  
Duration Of Treatment ◽  
Genetic Studies ◽  
Cystic Lung ◽  
History Of ◽  
Primary Neoplasm ◽  
The Mean

Introduction Pleuropulmonary blastoma (PPB) is an aggressive primary neoplasm of pleuropulmonary mesenchyme occurring in children. Given its rarity, the International Pleuropulmonary Blastoma Registry (IPPBR) was established in 1988 to collect and assess data on PPB worldwide. We assessed the clinical characteristics, histopathology, genetic studies, management, and treatment outcomes of patients with PPB in our institution, and compared with the published literature. Materials and Methods We retrospectively reviewed the medical records of all PPB cases diagnosed at Princess Margaret Hospital for Children in Western Australia over a period of 26 years (1990-2016). Results Seven children (4 boys and 3 girls) were treated for PPB at a mean age of 11.5 months (ranges 1 month to 3.55 years). Histopathology showed type I PPB in five, type II in one, and type III in one. All seven patients underwent thoracotomy/lobectomy of the corresponding site. One patient required additional bladder resection for coexisting rhabdomyosarcoma. One patient was found to be positive for DICER1 gene mutation. Six patients received adjuvant chemotherapy with vincristine, adriamycin, cyclophosphamide (VAC) regime, with the mean duration of treatment for five patients being 9.4 months excluding one patient who deceased without completion of chemotherapy. During a mean follow-up time of 9 years, the overall survival rate for this cohort was 85.7% (6/7). Conclusions Our results are similar to those reported in the literature. It is crucial for clinicians to consider PPB in the evaluation of patients presenting with a cystic lung abnormality, especially in cases with DICER1 mutation or a strong family history of unusual cancers.

scholarly journals Serum Neopterin Levels as a Diagnostic Marker of Hemophagocytic Lymphohistiocytosis Syndrome

2011 ◽  
Vol 18 (4) ◽  
pp. 609-614 ◽  
Author(s):  
Maria F. Ibarra ◽  
Marisa Klein-Gitelman ◽  
Elaine Morgan ◽  
Maria Proytcheva ◽  
Christine Sullivan ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Diagnostic Marker ◽  
Pearson Correlation ◽  
Laboratory Data ◽  
Elevated Serum ◽  
Time Frame ◽  
Control Group ◽  
Specific Marker ◽  
Serum Neopterin ◽  
The Mean

ABSTRACTThe objective of this study was to retrospectively evaluate the utility of serum neopterin as a diagnostic marker of hemophagocytic lymphohistiocytosis (HLH). The medical records of patients diagnosed with HLH (familial and secondary) between January 2000 and May 2009 were reviewed retrospectively, and clinical and laboratory information related to HLH criteria, in addition to neopterin levels, was recorded. A group of 50 patients with active juvenile dermatomyositis (JDM) (who routinely have neopterin levels assessed) served as controls for the assessment of the accuracy, sensitivity, and specificity of neopterin as a diagnostic test for HLH. The Pearson correlation was used to measure the association between serum neopterin levels and established HLH-related laboratory data. Serum neopterin levels were measured using a competitive enzyme immunoassay. During the time frame of the study, 3 patients with familial HLH and 18 patients with secondary HLH were identified as having had serum neopterin measured (all HLH patients were grouped together). The mean neopterin levels were 84.9 nmol/liter (standard deviation [SD], 83.4 nmol/liter) for patients with HLH and 21.5 nmol/liter (SD, 10.13 nmol/liter) for patients with JDM. A cutoff value of 38.9 nmol/liter was 70% sensitive and 95% specific for HLH. For HLH patients, neopterin levels correlated significantly with ferritin levels (r= 0.76,P= 0.0007). In comparison to the level in a control group of JDM patients, elevated serum neopterin was a sensitive and specific marker for HLH. Serum neopterin has value as a diagnostic marker of HLH, and prospective studies are under way to further evaluate its role as a marker for early diagnosis and management of patients.

scholarly journals Clinical and Laboratory Profile of Hospitalized Symptomatic COVID-19 Patients: Case Series Study From the First COVID-19 Center in the UAE

2021 ◽  
Vol 11 ◽  
Author(s):  
Suad Hannawi ◽  
Haifa Hannawi ◽  
Kashif Bin Naeem ◽  
Noha Mousaad Elemam ◽  
Mahmood Y. Hachim ◽  
...  
Keyword(s):  
Cardiac Injury ◽  
Laboratory Data ◽  
Case Series ◽  
Kidney Injury ◽  
Severe Infection ◽  
International Normalized Ratio ◽  
Cross Sectional ◽  
Icu Admission ◽  
Case Series Study ◽  
The Mean

IntroductionCOVID-19 is raising with a second wave threatening many countries. Therefore, it is important to understand COVID-19 characteristics across different countries.MethodsThis is a cross-sectional descriptive study of 525 hospitalized symptomatic COVID-19 patients, from the central federal hospital in Dubai-UAE during period of March to August 2020.ResultsUAE’s COVID-19 patients were relatively young; mean (SD) of the age 49(15) years, 130 (25%) were older than 60 and 4 (<1%) were younger than 18 years old. Majority were male(47; 78%). The mean (SD) BMI was 29 (6) kg/m2. While the source of contracting COVID-19 was not known in 369 (70%) of patients, 29 (6%) reported travel to overseas-country and 127 (24%) reported contact with another COVID-19 case/s. At least one comorbidity was present in 284 (54%) of patients and 241 (46%) had none. The most common comorbidities were diabetes (177; 34%) and hypertension (166; 32%). The mean (SD) of symptoms duration was 6 (3) days. The most common symptoms at hospitalization were fever (340; 65%), cough (296; 56%), and shortness of breath (SOB) (243; 46%). Most of the laboratory values were within normal range, but (184; 35%) of patients had lymphopenia, 43 (8%) had neutrophilia, and 116 (22%) had prolong international normalized ratio (INR), and 317 (60%) had high D-dimer. Chest x ray findings of consolidation was present in 334 (64%) of patients and CT scan ground glass appearance was present in 354 (68%). Acute cardiac injury occurred in 124 (24%), acute kidney injury in 111 (21%), liver injury in 101 (19%), ARDS in 155 (30%), acidosis in 118 (22%), and septic shock in 93 (18%). Consequently, 150 (29%) required ICU admission with 103 (20%) needed mechanical ventilation.ConclusionsThe study demonstrated the special profile of COVID-19 in UAE. Patients were young with diabetes and/or hypertension and associated with severe infection as shown by various clinical and laboratory data necessitating ICU admission.

scholarly journals Emerging human alveolar echinococcosis in Hungary (2003–2018): a retrospective case series analysis from a multi-centre study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Balázs Dezsényi ◽  
Zsolt Dubóczki ◽  
Tamás Strausz ◽  
Eszter Csulak ◽  
Veronika Czoma ◽  
...  
Keyword(s):  
Alveolar Echinococcosis ◽  
Diagnostic Delay ◽  
Case Series ◽  
Fatality Rate ◽  
Retrospective Case ◽  
Multi Centre Study ◽  
High Fatality Rate ◽  
The Mean ◽  
Health Database ◽  
Low Incidence

Abstract Background Human alveolar echinococcosis (AE) caused by Echinococcus multilocularis is an underreported, often misdiagnosed and mistreated parasitic disease mainly due to its low incidence. The aim of this study was to describe the epidemiological and clinical characteristics of human AE patients in Hungary for the first time. Method Between 2003 and 2018, epidemiological and clinical data of suspected AE patients were collected retrospectively from health database management systems. Results This case series included a total of 16 AE patients. The mean age of patients was 53 years (range: 24–78 years). The sex ratio was 1:1. Four patients (25%) revealed no recurrence after radical surgery and adjuvant albendazole (ABZ) therapy. For five patients (31.3%) with unresectable lesions, a stabilization of lesions with ABZ treatment was achieved. In seven patients (43.8%), progression of AE was documented. The mean diagnostic delay was 33 months (range: 1–122 months). Three AE related deaths (fatality rate 18.8%) were recorded. Conclusions AE is an emerging infectious disease in Hungary with a high fatality rate since based on our results, almost every fifth AE patient died in the study period. Differential diagnosis and appropriate surgical and medical therapy for AE is an urging challenge for clinicians in Hungary, as well as in some other European countries where E. multilocularis is prevalent.

scholarly journals 741. Ehrlichia chaffeensis Induced Hemophgocytic lymphohistiocytosis: A Descriptive Case Series

2021 ◽  
Vol 8 (Supplement_1) ◽  
pp. S468-S469
Author(s):  
jeffrey lin ◽  
Hanine El Haddad ◽  
Ayman Qasrawi ◽  
Gerhard Hildebrandt
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Nk Cell ◽  
Spotted Fever ◽  
Immunosuppressive Treatment ◽  
Laboratory Data ◽  
Cell Activity ◽  
Clinical Signs ◽  
Case Series ◽  
Signs And Symptoms ◽  
Clinical Signs And Symptoms

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) secondary to tick borne illnesses is rarely reported. Clinical signs and symptoms of tick borne illnesses and HLH might overlap with fever, cytopenias and increased liver enzymes being common. We describe findings from case series of ehrlichiosis induced HLH. Methods We reviewed patients with ICD-10 codes corresponding to a diagnosis of HLH or macrophage activation syndrome (MAS) at University of University of Kentucky Medical Center between January 2008 and April 2020. Inpatients who were >18 years of age without known immune compromise were included. 4 cases with confirmed underlying ehrlichiosis were identified at our institution. We searched PubMed for English-language articles containing the terms “ Hemophagocytic lymphohistiocytosis “ and “infection” or “tick borne” or “Ehrlichia”. Data on patient demographics, clinical signs and symptoms, laboratory data such as ferritin, platelet count, Il-2, NK cell activity, and outcomes were collected. Results We identified 16 cases of ehrlichiosis (1 had a coinfection with Rocky Mountain Spotted fever). Eleven out of 6 (68%) were male, median age was 58. All patients were febrile and thrombocytopenic on presentation and 8/14 (57%) were neutropenic. All had elevated ferritin (mean 36187 ng/mL, range 860 – more than 100000). CNS involvement was reported in 4 patients with a positive CSF Ehrlichia chaffensis PCR. All patients met at least 5 2004-HLH defining criteria and 10/14 (71%) patients had evidence of hemophagocytosis on bone marrow biopsy (table 1). Fourteen out of 15 (93%) patients received doxycycline and 9/15 (60%) received steroids +/- etoposide. Mortality for Ehrlichia induced HLH was 12.5%, significantly lower than that reported for all secondary HLH mortality (45%). Conclusion This review highlights the importance of considering Ehrilichiosis as a cause of HLH in endemic areas particularly as clinical signs and symptoms of the 2 entities overlap. While overall mortality rate due to HLH is elevated, Ehrlichia induced HLH seems to have a much favorable prognosis with prompt institution antimicrobial treatment. Additional prognostic factors that correlate with a more severe course dictate need for immunosuppressive treatment need to be further elucidated. Disclosures Gerhard Hildebrandt, MD, Bayer, Scotts-Miracle, Charlottes Webb CWBHF, Almmune Therapeutics Inc AIMT, Medical PPTYS TR Inc. MPW, Caretrust Reit Inc CTRE, ANGI Homeservices Inc (Shareholder)Bristil-Myers Squibb/Medarex, Crispr therapeutics, IDEXX Laboratories, Johnson & Johnson, Pfizer, Procter & Gamble, Vertex (Shareholder)Falk Foundation, Incyte, Takeda (Other Financial or Material Support, Travel, Accommodations, Expenses)Jazz Pharmaceuticals, Incyte, Morphosys, Alexion Pharmaceuticals, Karyopharm Therapeutics, Seattle Genetics (Consultant)Jazz Pharmaceuticals, Pharmacyclics, Incyte, AstraZeneca (Grant/Research Support)Novartis, Insys Therapeutics, Abbvie, GW Pharmaceuticals, Cardinal Health, Clovis Oncology, Cellectis, CVS Health, Celgene, Bluebird Bio (Shareholder)

TBE in Italy

2019 ◽  
Author(s):  
Valentina Tagliapietra ◽  
Flavia Riccardo ◽  
Giovanni Rezza
Keyword(s):  
Case Series ◽  
East Part ◽  
Mountainous Regions ◽  
North East ◽  
The North ◽  
Tick Borne Encephalitis ◽  
Low Incidence

Italy is considered a low incidence country for tick-borne encephalitis (TBE) in Europe. Areas at higher risk for TBE in Italy are geographically clustered in the forested and mountainous regions and provinces in the north east part of the country, as suggested by TBE case series published over the last decade.

TBE in Italy

2020 ◽  
Keyword(s):  
Surveillance System ◽  
Ad Hoc ◽  
National Level ◽  
Case Series ◽  
Incidence Rates ◽  
Mountainous Regions ◽  
North East ◽  
The North ◽  
Tick Borne Encephalitis ◽  
Low Incidence

Italy is considered a low-incidence country for tick-borne encephalitis (TBE) in Europe.1 Areas at higher risk for TBE in Italy are geographically clustered in the forested and mountainous regions and provinces in the north east part of the country, as suggested by TBE case series published over the last decade.2-5 A national enhanced surveillance system for TBE has been established since 2017.6 Before this, information on the occurrence of TBE cases at the national level in Italy was lacking. Both incidence rates and the geographical distribution of the disease were mostly inferred from endemic areas where surveillance was already in place, ad hoc studies and international literature.1

Long-term outcomes of lumbar microdiscectomy in the pediatric population: a large single-institution case series

2019 ◽  
Vol 24 (5) ◽  
pp. 549-557
Author(s):  
Malia McAvoy ◽  
Heather J. McCrea ◽  
Vamsidhar Chavakula ◽  
Hoon Choi ◽  
Wenya Linda Bi ◽  
...  
Keyword(s):  
Conservative Management ◽  
Functional Outcomes ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Case Series ◽  
Csf Leak ◽  
Single Institution ◽  
The Mean

OBJECTIVEFew studies describe long-term functional outcomes of pediatric patients who have undergone lumbar microdiscectomy (LMD) because of the rarity of pediatric disc herniation and the short follow-up periods. The authors analyzed risk factors, clinical presentation, complications, and functional outcomes of a single-institution series of LMD patients over a 19-year period.METHODSA retrospective case series was conducted of pediatric LMD patients at a large pediatric academic hospital from 1998 to 2017. The authors examined premorbid risk factors, clinical presentation, physical examination findings, type and duration of conservative management, indications for surgical intervention, complications, and postoperative outcomes.RESULTSOver the 19-year study period, 199 patients underwent LMD at the authors’ institution. The mean age at presentation was 16.0 years (range 12–18 years), and 55.8% were female. Of these patients, 70.9% participated in competitive sports, and among those who did not play sports, 65.0% had a body mass index greater than 25 kg/m2. Prior to surgery, conservative management had failed in 98.0% of the patients. Only 3 patients (1.5%) presented with cauda equina syndrome requiring emergent microdiscectomy. Complications included 4 cases of postoperative CSF leak (2.0%), 1 case of a noted intraoperative CSF leak, and 3 cases of wound infection (1.5%). At the first postoperative follow-up appointment, minimal or no pain was reported by 93.3% of patients. The mean time to return to sports was 9.8 weeks. During a mean follow-up duration of 8.2 years, 72.9% of patients did not present again after routine postoperative appointments. The total risk of reoperation was a rate of 7.5% (3.5% of patients underwent reoperation for the same level; 4.5% underwent adjacent-level decompression, and one patient [0.5%] ultimately underwent a fusion).CONCLUSIONSMicrodiscectomy is a safe and effective treatment for long-term relief of pain and return to daily activities among pediatric patients with symptomatic lumbar disc disease in whom conservative management has failed.

scholarly journals 63 Chronic Femoral Osteomyelitis Case Series: Outcomes and Economic Impact at A United Kingdom Based Tertiary Centre

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
E Lau ◽  
Z Arshad ◽  
A Aslam ◽  
A Thahir ◽  
M Krkovic
Keyword(s):  
Economic Impact ◽  
Treatment Protocol ◽  
Case Series ◽  
Consecutive Series ◽  
Financial Loss ◽  
Patient Demographics ◽  
Tertiary Centre ◽  
The Mean ◽  
Eq Vas

Abstract Introduction Osteomyelitis refers to an inflammatory process affecting bone and bone marrow. This study reviews chronic femoral osteomyelitis treatment and outcomes, including economic impact. Method We retrospectively collected data from a consecutive series of 14 chronic femoral osteomyelitis patients treated between January 2013 and January 2020. Data collected include patient demographics, comorbidities, pathogens, complications, treatment protocol and costs. Functional outcome was assessed using EuroQOL five-dimensional interview administration questionnaire (EQ-5D-5L™) and EuroQOL Visual Analogue Scale (EQ-VAS™). Results Of these, 92.9% had one or more osteomyelitis risk factor, including smoking and diabetes. Samples from 78.6% grew at least one pathogen. Only 42.9% achieved remission after initial treatment, but 85.7% were in remission at final follow-up, with no signs of recurrence throughout the follow-up period (mean: 21.4 months). The average treatment cost was £39,249.50 with a net mean loss of £19,080.10 when funding was considered. The mean-derived EQ-5D score was 0.360 and the mean EQ-VAS score was 61.7, lower than their values for United Kingdom’s general population, p = 0.0018 and p = 0.013 respectively. Conclusions Chronic femoral osteomyelitis treatment is difficult, resulting in significant economic burden. With previous studies showing cheaper osteomyelitis treatment at specialist centres, our net financial loss incurred suggests the need for management at specialised centres.

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