Diagnosis Of NF Research Articles

Ischaemic stroke as the initial presentation of a pheochromocytoma associated with neurofibromatosis type 1

Pheochromocytoma is a rare but well-recognised manifestation of neurofibromatosis type 1 (NF1). Ischaemic stroke has been rarely reported in patients with pheochromocytoma. It can be due to either hypertension or vasospasm. A 33-year-old woman presented with ischaemic stroke and was evaluated for young stroke. Examination revealed clinical diagnosis of NF 1. She had persistent regular tachycardia and mild hypertension. But she denied features suggestive of pheochromocytoma spells. 24-hour urinary metanephrine level was elevated and there was large left adrenal mass lesion. She underwent left sided adrenalectomy. Histology further confirmed the diagnosis of pheochromocytoma. There should be a lower threshold to suspect pheochromocytoma in patients with NF 1.

Necrotising fasciitis with extensive necrosis caused by Lactobacillus: a case report

BackgroundNecrotising fasciitis (NF) is a life-threatening soft-tissue infection that rapidly destroys the epidermis, subcutaneous tissue, and fascia. Despite their low virulence, Lactobacillus spp. can cause NF, and because of its rare incidence, there is limited information about its molecular and clinicopathological characteristics. We report a rare case of NF in a patient with type 2 diabetes mellitus diagnosed on admission and severe obesity due to infection with two types of Lactobacillus spp. that manifested in extensive necrosis.Case presentationA 48-year-old woman was referred to our hospital with a complaint of difficulty walking due to severe bilateral thigh pain. She presented with mild erythema, swelling, and severe skin pain extending from the pubic region to the groin. The patient was morbidly obese, had renal dysfunction, and had diabetes mellitus diagnosed on admission.; her LRINEC (Laboratory Risk Indicator for Necrotising Fasciitis) score was 9, indicating a high risk of NF. An exploratory surgical incision was made, and NF was diagnosed based on fascial necrosis. Emergent surgical debridement was performed, and cultures of the tissue culture and aspirated fluid/pus revealed two types of Lactobacillus spp.: Lactobacillus salivarius and L. iners. The patient was admitted to the intensive care unit (ICU), where antibiotics were administered and respiratory and circulatory management was performed. Diabetic ketoacidosis was detected, which was treated by controlling the blood glucose level stringently via intravenous insulin infusion. The patient underwent a second debridement on day 11 and a skin suture and skin grafting on day 36. The patient progressed well, was transferred from the ICU to the general ward on day 41, and was discharged unassisted on day 73.ConclusionsLactobacillus spp. are rarely pathogenic to healthy individuals and can scarcely trigger NF. However, these bacteria can cause rare infections such as NF in immunocompromised individuals, such as those with diabetes and obesity, and an early diagnosis of NF is imperative; surgical intervention may be required for the prevention of extensive necrosis. The LRINEC score may be useful for the early diagnosis of NF, even for less pathogenic bacteria such as Lactobacillus.

A Case of Necrotizing Fasciitis of the Breast Following Lumpectomy and Oncoplastic Closure

Background. NF is a life-threatening soft tissue infection that most commonly occurs in the lower extremity. While presenting symptoms such as erythema, severe pain, sepsis, and wound crepitation are well documented, diagnosis of NF of the breast often is obscured by a low clinical index of suspicion due to its relative rarity as well as by the breast parenchyma that physically separates the underlying fascia and overlying skin. Several risk factors have previously been identified, such as underlying infection, diabetes, advanced age, and immunosuppression. However, the gross morbidity and high mortality associated with NF warrant continued surveillance of contributing factors across any anatomic location. Fifteen cases in the literature document the development of NF following breast surgery. Case Report. The authors of this case report aim to expand on the current literature through the presentation of a unique case of NF of the breast following right breast lumpectomy and oncoplastic closure with left reduction mammaplasty in an immunocompromised patient found to have concurrent perforated sigmoid diverticulitis. Conclusion. This case exemplifies how frequent postoperative surveillance, a low threshold for intervention, and efficient coordination of care are vital to minimizing the morbidity and mortality risks associated with NF of the breast.

Early diagnosis of necrotizing fasciitis: Imaging techniques and their combined application.

Necrotizing fasciitis is a clinical, surgical emergency characterized by an insidious onset, rapid progression, and a high mortality rate. The disease's mortality rate has remained high for many years, mainly because of its atypical clinical presentation, which prevents many cases from being diagnosed early and accurately, resulting in patients who may die from uncontrollable septic shock and multi-organ failure. But unfortunately, no diagnostic indicator can provide a certain early diagnosis of NF, and clinical judgement of NF is still based on the results of various ancillary tests combined with the patient's medical history, clinical manifestations, and the physician's experience. This review provides a brief overview of the epidemiological features of NF and then discusses the most important laboratory indicators and scoring systems currently employed to diagnose NF. Finally, the latest progress of several imaging techniques in the early diagnosis of NF and their combined application with other diagnostic indices are highlighted. We point out promising research directions based on an objective evaluation of the advantages and shortcomings of different methods, which provide a basis for further improving the early diagnosis of NF.

Neurofibromatosis

While the Neurofibromatoses have been observed and classified by their phenotypes for several centuries, their great variability constitutes a considerable challenge in diagnostics and therapy selection. This article focuses on highlighting the three most frequent sub-types NF1, NF2 and NF3. All three NF types are outlined by the following measures: the history of their clinical detection, the typical appearance, the underlying genetic constitution and its consequences, the official diagnostic criteria, the mandatory diagnostic steps and finally the treatment opportunities and specific risks. About 50% of NF patients have a positive family history and the other 50% are the first symptomatic generations and suffer from new mutations. A considerable (unknown) number of patients do not exhibit a complete genetic NF constitution, but have a so-called mosaic sub-form with only a limited number of cells being genetically affected and prone to tumorous changes. The neurofibromatoses are neuro-cutaneous diseases with manifestations at the skin and nervous system, except for NF 3, where the skin and eyes are never affected. Skin and eye manifestations, especially pigmentation disturbances, mostly started early in childhood and adolescence. The underlying genetic constitutions, on chromosome 17 in NF1 and on chromosome 22 in NF2 and NF3, cause a defect in tumor suppressor genes and lead to excessive proliferation of Schwann cells. Major features are tumors of the peripheral nerves, including cranial and spinal nerves leading to tumors with considerable nerve, brain and spinal cord compression and resulting in pain, sensory and motor deficits. A further variable disease feature may be neuropathy with neuropathic pain, related to tumor formation or even independent of it.Although benign by histopathology and growing rather slowly, those tumors often cause progressive neurological deficit and loss of function. Loss of function may be prevented by adequate timing of therapy such as nerve decompression by microsurgical tumor resection or reduction, medication with immunotherapy or radiotherapy in selected cases. To date it is unknown why some tumors remained silent and stable while others progress and show periods of accelerated growth.As a consequence, NF patients need to be accompanied by a specialized interdisciplinary NF team at long-term, with a clear-cut standardized protocol for clinical and imaging controls along with counseling and support in decision-making.Further, NF patients may suffer from reactive depression due to the danger of losing essential neural functions, such as vision or audition or movement. And especially NF1 patients show characteristics of ADHS and other cognitive compromise in at least 50% of cases. As the neurofibromatosis belong to the so-called rare diseases, all patients with a suspicion or diagnosis of NF should get the opportunity to present to an interdisciplinary NF Center, mostly situated at University Hospitals, where competent counseling on the individual disease phenotype may be provided. Here the patients will be informed on the necessary diagnostic steps, their frequency as well as on practical steps in case of acute deterioration. Most NF centers are run by neurosurgeons or neurologists or pediatricians, working in a network with geneticists, neuro-radiologists, ophthalmologists, dermatologists, plastic and general surgeons, psychologists, psychiatrists and social work experts. They participate regularly in neuro-oncological tumor and sarcoma tumor boards, skull base tumor centers, comprehensive hearing centers, and deliver all the treatment opportunities provided by certified brain tumor centers, among those the inclusion in special diagnostic and treatment studies or the contact information to patient support groups.

Presence of neurologic signs in children with neurofibromatosis type 1

Neurofibromatosis type 1 is a common neurogenetic disorder affecting nervous system, caused by germiline mutations of the NF1 gene. Although the clinical diagnosis of NF1 is defined by presence of cafe-au-laits spots, freckling and benign tumors (neurofibromatosis), neurocognitive impairment and neuropsychiatric disorders are reported in comorbidity. Children with NF1 show higher incidence of executive deficits, such attention, response inhibition, executive planning and problem solving, working memory, and learning impairment. In this study we examine the presence of neurological soft signs and planning function in subjects with NF1. The NSS are minor motor and sensory abnormalities without focal brain damage. Eleven drug naïve children between 7-15 years with clinical and molecular diagnosis of NF are matched to 11 healthy controls to ass the presence of neurological soft signs and planning executive functions. NSS were assessed using Physical and Neurological Examination for Subtle Signs and the Tower of London task is performance test to assess the capacity of planning, organization and execution of a work. Our results revealed highest rate of NSS and planning deficit in children with NF1 compared to healthy controls. The motor abnormalities and planning deficit are possible markers to confirm that NF1 could be considering a neurodevelopmental disorder.

Blood biomarkers in ALS: challenges, applications and novel frontiers.

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease among adults. With diagnosis reached relatively late into the disease process, extensive motor cell loss narrows the window for therapeutic opportunities. Clinical heterogeneity in ALS and the lack of disease-specific biomarkers have so far led to large-sized clinical trials with long follow-up needed to define clinical outcomes. In advanced ALS patients, there is presently limited scope to use imaging or invasive cerebrospinal fluid (CSF) collection as a source of disease biomarkers. The development of more patient-friendly and accessible blood biomarker assays is hampered by analytical hurdles like the matrix effect of blood components. However, blood also provides the opportunity to identify disease-specific adaptive changes of the stoichiometry and conformation of target proteins and the endogenous immunological response to low-abundance brain peptides, such as neurofilaments (Nf). Among those biomarkers under investigation in ALS, the change in concentration before or after diagnosis of Nf has been shown to aid prognostication and to allow the a priori stratification of ALS patients into smaller sized and clinically more homogeneous cohorts, supporting more affordable clinical trials. Here, we discuss the technical hurdles affecting reproducible and sensitive biomarker measurement in blood. We also summarize the state of the art of non-CSF biomarkers in the study of prognosis, disease progression, and treatment response. We will then address the potential as disease-specific biomarkers of the newly discovered cryptic peptides which are formed down-stream of TDP-43 loss of function, the hallmark of ALS pathobiology.

Th1/Th2 cytokine levels: A potential diagnostic tool for patients with necrotizing fasciitis

IntroductionNecrotizing fasciitis (NF) has emerged as rare but rapidly progressive, life-threatening severe skin and soft tissue infection. We conducted a study to investigate whether Th1/Th2 cytokines could serve as biomarkers to distinguish NF from class III skin and soft tissue infections (SSTIs). MethodsA retrospective review was performed for 155 patients suffering from serious skin and soft tissue infections from October 2020 to February 2022. Th1/Th2 cytokines were obtained from peripheral blood and wound drainage fluid samples. Data on demographic characteristics, causative microbiological organisms, Th1/Th2 cytokines, c-reactive protein, procalcitonin and white blood cell (WBC) were extracted for analysis. Factors with statistical difference(p < 0.1) were included in the multivariate logistic regression model. The clinical differential diagnostic values of interleukin-2(IL-2), IL-6, IL-10, tumor necrosis factor-α (TNF-α) and interferon-r (IFN-r) were analyzed by receiver operating characteristic (ROC) curve. ResultsAmong the 155 patients, 66(43%) patients were diagnosed as NF. We found no significant difference for sex, age, location of infection, coexisting condition, predisposition, duration of symptoms before admission and micro-organisms, WBC, procalcitonin and c-reactive protein in NF and class III SSTIs group. NF had higher levels of IL-6 in serum (50.46 [24.89, 108.89] vs. 11.87 [5.20, 25.32] pg/ml; p＜0.01), IL-10 in serum (3.45 [2.03, 5.12] vs. 2.51 [1.79, 3.29] pg/ml; p＜0.01), IL-2 in wound drainage fluid (0.89 [0.49, 1.33] vs. 0.63 [0.14, 1.14] pg/ml; p = 0.02), IL-6 in wound drainage fluid (5000.84 [1392.30, 13287.19] vs. 1927.82 (336.65, 6759.27) pg/ml; p＜0.01), TNF-a in wound drainage fluid (5.20 [1.49, 22.97] vs. 0.96 [0.12, 3.21] pg/ml; p＜0.01) and IFN-r in wound drainage fluid (1.32 [0.47, 4.62] vs. 0.68 [0.10, 1.88] pg/ml; p = 0.02) as compared to the class III SSTIs. Multivariate logistic regression analyses showed that IL-6 in serum, IL-10 in serum and TNF-a in wound drainage fluid exhibited independently significant associations with diagnosis of NF(p＜0.05). In ROC curve analysis of IL-2, IL-6, IL-10, TNF-a and IFN-r for diagnosis of NF, the area under the curve (AUC) of IL-6 in serum could reach to 0.80 (p＜0.001). Using 27.62 pg/ml as the cut off value, the sensitivity was 74% and the specificity was 79% in IL-6 in serum. ConclusionsTh1/Th2 cytokines, IL-6 in serum in particular, are potential biomarkers for the diagnosis of NF in the early stage. However, larger patient populations with multiple centers and prospective studies are necessary to ensure the prognostic role of Th1/Th2 cytokines.

Necrotizing Fasciitis- A Lethal Soft Tissue Infection: Review Article

Background: Necrotizing Fasciitis is a rapidly progressive soft tissue infection that is almost fatal without prompt treatment. This review highlights about the basic approach to the diagnosis and treatment of NF. Description: Various nomenclatures have been used to describe necrotizing soft tissue infections. These infections are classified on the basis of the microbes involved, depth of invasion and anatomical sites involved. Diabetes is the most common risk factor for NF. The masquerading cutaneous manifestations make the diagnosis of NF a challenge. Laboratory parameters, imaging techniques and scoring systems have been designed to aid in early diagnosis. Conclusion: High index of clinical suspicion is needed to make prompt diagnosis of NF. Urgent aggressive surgical debridement with antimicrobial therapy limits the morbidity and mortality associated with NF.

Necrotizing fasciitis in Indonesian adult with diabetes mellitus: Two case and review article.

BackgroundNecrotizing fasciitis (NF) is a rare and life-threatening form of infection involving rapidly spreading inflammation and extensive necrosis of the skin, subcutaneous tissue, and superficial fascia.Case presentationThis study reported two cases of NF in a 56-year-old female and a 38-year-old male who demonstrated typical signs and symptoms of NF. Both presented to the hospital with skin necrosis in the lower extremity, sepsis shock, and multiorgan failure. Based on the clinical presentation, physical examination, and additional examination, a diagnosis of NF was made. The LRINEC score was used to distinguish NF from other soft tissue infections. Both patients were treated with empirical antibiotics, surgical debridement and planned to be amputated, but the patients were hemodynamically unstable and passed away before the amputation proceeded.DiscussionDelay in the diagnosis of NF increases the risk of mortality and the use of the LRINEC score is very helpful in decision making for health workers.ConclusionThe key to the management of NF is early diagnosis, debridement, removal of necrotic tissue, amputation, and use of empirical antibiotics.

Necrotizing Fasciitis: Risk Factors and Outcomes in the COVID-19 Era

Background: Necrotizing Fasciitis is a severe, rapidly spreading soft tissue infection with high morbidity and mortality. Diabetes mellitus, hypertension, and immune suppression are the some of the predisposing factors for the disease. The objective of this study was to study the risk factors and outcomes of necrotizing fasciitis in the COVID-19 era. Methods and Materials: a retrospective analysis of the data of forty-four patients admitted with the diagnosis of NF from April 2020 to April 2021was done at Dr Ram Manohar Lohia Hospital, New Delhi. Data was recorded in MS Excel spreadsheet program. SPSS v23 (IBM Corp.) was used for data analysis. Descriptive statistics were elaborated in the form of means/standard deviations and medians/IQRs for continuous variables, and frequencies and percentages for categorical variables. Chi-square test (X2) was used for group comparisons of categorical data. Results: Out of forty-four patients, 26 (59.10%) were male and 18 (40.9%) were female. The mean age was 54.2 years (+ 14.4 years). Extremities (68.2%) were the most commonly involved site followed by perineum (29.5%) and abdominal wall (2.2%). Diabetes mellitus (DM) was the most prevalent comorbidity. 10 patients had both DM and hypertension (HTN). Fourteen patients (32%) had a polymicrobial infection on tissue culture. Rest thirty patients had involvement of gram positive (44%) and gram negative (24%) organisms. Twenty-two patients (50%) had healthy granulation tissue as the final outcome. However, the rest 50% patients had a poor outcome in form of amputation (13.63%) and mortality (36.36%). Average duration from onset of symptoms to presentation at the hospital was 7.11 (+ 3.47) days. Patients who presented early to the hospital within 7 days of symptom onset had a good outcome in the form of healthy granulation tissue (X2= 7.62 and p &lt;0.05). Conclusions: Early diagnosis and prompt surgical intervention in necrotizing fasciitis is the key to its management. Delayed presentation was because of restricted movement, government-imposed lockdowns, patients ignoring their symptoms, and resorting to self-medications. The delay in diagnosis leading to a delay in treatment is one of the major factors contributing to poor outcomes in the COVID-19 era. Keywords: necrotizing fasciitis, risk factors, COVID 19.

Evaluation of Risk Factors for Amputation and Mortality in Patients of Necrotizing Fasciitis

ABSTRACT Background Necrotizing fasciitis (NF) is a serious infection of the skin and soft tissues including subcutaneous tissue and fascia, which rapidly progresses along the deep fascia and becomes a medical and surgical urgency. Delayed treatment is associated with loss of limb and infection and is the most common cause of mortality. The purpose of our study is to identify the risk factors which may be used to predict amputation and mortality in patients with NF. Materials and methods All adult patients presented in General Surgery OPD/emergency and plastic surgery OPD of MGUMST with NF were assessed, admitted, and treated with broad-spectrum antibiotics from January 2019 to June 2020. All routine blood parameters were evaluated and were provided proper emergency surgical treatment. The surgical interventions included incision and drainage, debridement, fasciotomy, and amputation. The clinical data and demographic characteristics within the first day of admission and after 48–72 hours were documented. Important data associated with the investigations and treatment of NF, i.e., wound appearance, site of infection, organisms involved, and laboratory data within the first day of admission and after 48–72 hours, surgical intervention and outcome, were documented. Patients were divided into two groups: survival and mortality which were further grouped into two groups: those with amputation and without amputation. Results Among 100 patients with diagnosis of NF, 20% died and 10% underwent amputation. From multivariable analysis, the predictors of mortality among patients of NF were patients of age &gt;60 years [risk ratio (RR) = 58.57, 95% CI = 3.64–941.85, p = 0.004], having diabetes mellitus (DM) (RR = 28.70, 95% CI = 1.78–461.51, p = 0.017), gangrene (RR = 3.86, 95% CI = 1.91–7.75, p = 0.0002), severe sepsis (RR = 158.14, 95% CI = 9.96–2508.89, p = 0.0003), involvement of multiple sites (RR = 9.06, 95% CI = 4.25–19.31, p = 0.0001), total leukocyte count (RR = 158.14, 95% CI = 9.96–2508.89, p = 0.0003), and serum creatinine (RR = 126.28, 95% CI = 7.92–2013.12, p = 0.0006) on admission and within 48–72 hours of admission and the independent predictors of amputation among patients of NF included having gangrene (RR = 173.73, 95% CI = 10.91–2764.80, p = 0.0003), severe sepsis (RR = 6.00, 95% CI = 1.86–19.26, p = 0.002), total leukocyte count (RR = 6.00, 95% CI = 1.86–19.26, p = 0.002), and serum creatinine (RR = 64.68, 95% CI = 3.92–1064.68, p = 0.003) on admission and within 48–72 hours of admission. Conclusion In our study, we concluded that gangrene, severe sepsis, total leukocyte count &gt;25,000, and serum creatinine values &gt;1.6 mg/dL on admission as well as within 48–72 hours, as independent predictors for both amputation and mortality and some other factors like age &gt;60 years, the involvement of multiple sites, DM mainly predicting the mortality rate independently. How to cite this article Sharma M, Kanojiya R, Goyal S. Evaluation of Risk Factors for Amputation and Mortality in Patients of Necrotizing Fasciitis. J Mahatma Gandhi Univ Med Sci Tech 2020;5(2):38–46.

1560. Microbiology of Necrotizing Fasciitis and Implications on Antimicrobial Stewardship

BackgroundNecrotizing fasciitis (NF) is a rare but deadly soft tissue infection. Early diagnosis, antibiotics, and surgical management are critical in treatment. Current IDSA guidelines recommend broad empiric antibiotics (eg, vancomycin + piperacillin-tazobactam or a carbapenem). At our institution, this invariably consists of empiric treatment for methicillin-resistant Staphylococcus aureus (MRSA) and resistant gram-negative organisms (eg, Pseudomonas aeruginosa), usually with piperacillin-tazobactam. Clindamycin is the common third agent used empirically; however, the literature supports use of clindamycin only in confirmed cases of Group A Streptococcus (GAS). With the increasing dangers of antibiotic resistance, use of such broad agents may not be necessary for NF. We evaluated the microbiology of NF and the implications on empiric antibiotic treatment.MethodsRetrospective chart review of adults (≥18 years) with a diagnosis of NF from January 2016 to May 2020.ResultsTwenty-five cases of NF in 22 patients were recorded. The median age was 54.5 (IQR 37-59.8) and 15 (60%) were male. On presentation, 24 (96%) met systemic inflammatory response syndrome criteria with a median laboratory risk indicator for necrotizing fasciitis score of 15 (IQR 9-31.3, n = 20). The median presenting white blood cell count was 17.5 x 103 cells/uL (IQR 13.5-25.2), median C-reactive protein was 321.6 mg/L (IQR 25.9-37.6) and median creatinine was 1.2 mg/dL (IQR 0.7-1.6). The most frequently isolated organisms were anaerobes (n=9, 36%) and Streptococci other than GAS (n = 9, 36%). GAS was isolated in 6 patients (24%) and S. aureus in 2 patients (8%). All cases of S. aureus were methicillin-susceptible. No Pseudomonas species (PsA) or extended-spectrum beta-lactamase (ESBL) gram negative organisms were isolated. Three patients (12%) had no organisms isolated from surgical cultures. Seven patients (28%) had positive blood cultures. Of the empiric antibiotics used, 24 (96%) patients were exposed to clindamycin and an anti-pseudomonal antibiotic.ConclusionEmpiric treatment of PsA and ESBL organisms is not necessary in NF. This infection should be considered a priority target for antimicrobial stewardship to reduce prescribing of broad-spectrum antibiotics to empirically treat these organisms.Disclosures All Authors: No reported disclosures

Nodular Fasciitis - Fine Needle Aspiration Cytology Diagnosis and Its Pitfalls, with Review of Literature.

Background and Objective:Nodular fasciitis (NF) is a self-limiting, transient neo- plasm composed of fibroblasts and myofibroblasts. Since it regresses spontaneously, diagnosis by fine needle aspiration (FNA) cytology plays a major role in its management.Methods:We present a series of 8 cases with either FNA or biopsy diagnosis ofNF, and study the major cytological features with a review of literature on diagnostic criteria and its pitfalls.Results and Conclusion:The 8 cases occurred in patients between the age of 14 to 72 years, with equal sex distribution. FNA diagnosis concurred in 4 cases. Causes of wrong diagnosis included lack of clinical information and paucicellular smear. FNA cytology is an important tool in the diagnosis of nodular fasciitis, in appropriate clinico-radiologicalsetting.

Frequency of Infection Source and Predictors of Mortality in Leukemia Patients Diagnosed with Febrile Neutropenia

Introduction:High-risk hematologic malignancies are associated with significant treatment-related morbidity, particularly due to infectious events. Neutropenic fever/Febrile neutropenia (NF) is one of the most common infectious complications of chemotherapy; however, mortality rates associated with NF and the factors predictive of mortality are not well-established in the adult leukemia literature. We sought to examine factors that influence mortality and length of stay in patients admitted with NF to the inpatient hematologic malignancy service of a tertiary care center.Materials and Methods:We performed a retrospective chart review of patients admitted to our hematologic malignancy service between April 2016 and July 2018 who carried a diagnosis of NF, based upon absolute neutrophil count < 500/microL and temperature =>38.3C. We included patients who developed fever during planned admission for treatment or who were admitted for complications. Patients had primary diagnoses of AML, ALL, CML, CLL, and MDS. Patients undergoing autologous or allogenic stem cell transplant were excluded. Our analysis included demographics, primary diagnosis, primary disease status (remission, relapse, refractory), line of therapy prior to admission, duration of neutropenia, and nutritional status. We included infection-specific factors such as the presence of bacteremia, identification of an infection source, gram stain of bacteria isolated, resistance patterns, and need for ICU care. We used linear regression analysis to evaluate potential predictors of length of stay and mortality. Statistical analyses were performed with SAS.Results:We identified 100 episodes of NF that occurred in 63 patients. Median age was 58. Malignancies with the highest representation among NF episodes were AML (69%), ALL (24%), CML (3%), and CLL (2%). Infection sources were identified in 62% of episodes, with bacteremia identified in 54% of cases, accounting for 87% of sources. Mean length of stay was 18.7 (+/- 2.3 days). 14 deaths occurred, with 13 (93%) being AML patients and 11 (79%) having bacteremia. Factors associated with mortality were recurrent or relapsed disease status (RR 3.05, p = 0.034), bacteremia (RR 3.1, p = 0.047), and need for ICU-level care as defined by intubation or pressor requirements (RR 8.2, p <0.001). 8 of 14 episodes requiring ICU-level care resulted in death. Severe malnutrition had a near-significant association with mortality (RR 2.7, p = 0.06). Gram-positive versus gram-negative status, bacterial resistance pattern, degree of neutropenia, type of malignancy, line of therapy, age, and duration of neutropenia were not significantly associated with mortality. There was no association between the presence of bacteremia and length of stay.Conclusion: Infection sources, in particular bacteremia, are identified with high frequency in leukemia patients experiencing NF. This study yielded generalizable outcome estimates for NF patients Risks of morbidity and mortality are high, with a 14% risk of ICU-level therapy and a 14% risk of mortality. Mortality risk increases in the setting of bacteremia, relapsed/refractory disease, and possibly poor nutritional status. The results suggest that early identification of correctable factors and rapid intervention during infections are essential to the management of high-risk hematologic malignancy patients. Early use of myeloid growth factor support may be worthy of study in selected high-risk populations. DisclosuresNo relevant conflicts of interest to declare.

A child with multiple café au lait macules: Rare presentation of plexiform neurofibromatosis with facial dysmorphism, alopecia, proptosis, stridor, and limb length discrepancy

Multiple cafe au lait macules are one of the cornerstones in diagnosing neurofibromatosis Type 1 (NF 1). NF 1 is often a multisystem neurocutaneous disorder, plexiform NF being one of the most important variants of this phacomatosis. Here, a rare case of a 2.5-year-old male child without positive family history has been described who presented with multiple large cafe au lait spots, alopecia, dysmorphic facies, proptosis, protrusion and deviation of tongue, biphasic stridor, bilateral neck swelling, and abnormal gait due to foreshortened left leg. Magnetic resonance imaging revealed abnormal soft-tissue infiltration of cavernous sinus through sphenoid bone, retro-orbital, retropharyngeal, parapharyngeal spaces, floor of mouth, and encasement of unilateral neck vessels and compression over trachea. Indirect laryngoscopy revealed unilateral vocal cord palsy most likely due to recurrent laryngeal nerve involvement. Biopsy confirmed the diagnosis of NF. Pediatricians and dermatologists should be aware of syndromic causes and their varied presentations while encountering a child with multiple large cafe au lait spots.

Childhood malignant diseases associated with neurofibromatosis Type 1: Hacettepe experience.

e21015 Background: To evaluate clinical characteristics and prognosis of patients with NF 1 and malignancy excluding optic glioma. Methods: Between 1975 and 2013, 92 of 473 patients (19%) with NF 1 who were followed up at our center were found to have malignant disease. 67 (14%) of them had optic glioma and in 25 (5%) of them there were other malignant disorders. Files of these 25 patients were analyzed retrospectively in terms of clinical features and treatment results. Results: The male to female ratio of these 25 patients was 16/9. The age of diagnosis of NF 1 was between 3 months-16 years (median 5.5 years) and diagnosis of malignancy at age between was 1.5 - 33 years (median 8), respectively. Sixteen patients were diagnosed with NF1 and malignancy simultaneously. Histological subtypes were 12 soft tissue tumors (6 malignant peripheral nerve sheath tumor (MPNST), five rhabdomyosarcoma and one malignant fibrous histiocytoma), 10 brain tumors (three grade 3-4 astrocytoma or glioblastoma, four astrocytom...

Necrotizing Fasciitis Associated with Pregnancy: a Population-Based Cohort Study.

IntroductionNecrotizing fasciitis (NF) is a rare complication in pregnant women. There have been no population-level data reported to date on its epidemiology, clinical features, resource utilization, and outcomes.MethodsThis was a retrospective, population-based cohort study, using the Texas Inpatient Public Use Data File to identify pregnancy-associated hospitalizations for the years 2001–2010. Hospitalizations with a diagnosis of NF were then identified using the International Classification of Diseases, Ninth Revision, Clinical Modification code 728.86. Denominator data for incidence estimates were derived from the Texas Center for Health Statistics reports of live births, abortions and fetal deaths, and previously reported population-based, age-specific linkage data on miscarriage, and were used to estimate the annual total number of pregnancies (TEP). The incidence of pregnancy-associated NF (PANF), hospitalization type, clinical features, resource utilization and outcomes were examined.ResultsThere were 4,060,201 pregnancy-associated hospitalizations and 148 PANF hospitalizations during study period. Postpartum hospitalizations accounted for 82.4% of all PANF events, and intensive care unit care was required in 61.5%. The key trends noted between 2001–2002 and 2009–2010 included rising incidence of PANF from 1.1 vs. 3.8 per 100,000 TEP-years (P = 0.0001), chronic comorbidities 0% vs. 31.7% (P = 0.0777), and development of organ failure in 9.1% vs. 31.7% (P = 0.0302). There was no significant change in total hospital charges or hospital length of stay. Three patients (2%) died in the hospital and 55% of survivors had routine home discharge.ConclusionsThe present cohort of PANF is the largest reported to date. The incidence of PANF rose nearly 3.5-fold over the past decade, with most events developing following delivery hospitalization. Chronic illness has been increasingly present, along with rising severity of illness. The majority of patients required ICU care. Hospital mortality was lower than that reported for NF in the general population. The sources of the observed findings require further study.Electronic supplementary materialThe online version of this article (doi:10.1007/s40121-014-0031-0) contains supplementary material, which is available to authorized users.

Point-of-Care Ultrasound Diagnosis of Necrotizing Fasciitis Missed By Computed Tomography and Magnetic Resonance Imaging

BackgroundNecrotizing fasciitis (NF) is a rare but deadly disease. Diagnosis of necrotizing soft tissue infections can be challenging for a variety of reasons. Point-of-care (POC) ultrasound (US) has been described as a diagnostic tool to help the acute care clinician make the early diagnosis that is imperative to optimize outcomes. ObjectiveTo report a case of Group A Streptococcus NF recognized with POC US, and subsequent negative findings on computed tomography (CT) and magnetic resonance imaging (MRI). Case ReportA 54-year-old diabetic woman presented to the Emergency Department with atraumatic right foot and lower leg pain associated with fever. Examination was concerning for NF, and a POC US was performed, which showed thickened deep fascia and fluid tracking along the deep fascial plane, with fluid pockets measuring 6 mm in depth, consistent with NF. Surgical consultation was obtained. Per request, CT and MRI of the patient's lower extremity were performed; both were interpreted by the radiologist as showing changes consistent with cellulitis. Septic shock and multisystem organ failure ensued; the patient was eventually taken to the operating room, where operative findings were consistent with NF. Operative cultures grew Streptococcus pyogenes. ConclusionNF is a surgical emergency. Early and accurate diagnosis is critical to ensure the necessary aggressive management needed to optimize outcomes. This case illustrates the utility of POC US to make the prompt diagnosis of NF, particularly in light of subsequently negative CT and MRI.

Modeling delay in diagnosis of NF: under reportincg, incidence and prevalence estimates

In this paper, we analyze data from the Italian National Register of Rare Diseases (NRRD) focusing, in particular, on the geo-temporal distribution of patients affected by neurofibromatosis type 1 (NF1, ICD9CM code 237.71). The aim is at deriving a corrected measure of incidence for the period 2007–2009 using a single source, and to provide NF1 prevalence estimates for the period 2001–2006 through the use of capture–recapture methods over two sources. In the first case, a reverse hazard estimator for the delay in diagnosis of NF1 is used to estimate the probability that a generic unit belonging to the population of interest has been registered by the archive of reference. For the second purpose, two-source capture–recapture methods have been used to estimate the number of NF1 prevalent units in Italy for the period 2001–2006, matching information provided by the NRRD and the national register of hospital discharge, Scheda di Dimissione Ospedaliera (in the following SDO), archives.