Surgical and functional outcomes of Dorsal Inlay Graft urethroplasty in revision vs primary hypospadias repair in the pediatric age.

INTRODUCTION: Over the years, Dorsal Inlay Graft (DIG) urethroplasty has gained worldwide acceptance for primary hypospadias repair. However, its safety and effectiveness for revision surgery are yet to be proven. OBJECTIVE: The aim of the study is to assess and compare complication rates and functional outcomes of DIG surgery in revision versus primary hypospadias repair. MATERIAL AND METHODS: We carried out a retrospective analysis of data collected from 53 consecutive DIG urethroplasties performed by a single surgeon at our institution. Patients were stratified in two groups - primary repair and redo-urethroplasty. For each group, we recorded standard pre-operative characteristics, surgical technicalities, complication rates and uroflowmetry parameters. RESULTS: Out of 53 DIG urethroplasties, 21 (39.6 %) where primary and 32 (60.4 %) were re-do. As expected, the two groups differed for median age at surgery: 20 months for primary and 68.5 months for revision surgery (p < 0.001). Additionally, all 21 (100 %) primary interventions were performed with a preputial graft, whereas among revision DIG urethroplasties only 2 (6.3 %) where preputial and 30 (93.8 %) were buccal (p < 0.001). Catheterization time (7 vs 8 days, p = 0.155) and postoperative complication rates (14.3 % vs 9.4 %, p = 0.581) were comparable between the primary and revision surgery group, respectively (all p > .05). Forty-two of the 53 patients underwent uroflowmetry during follow-up. Of these, 19 (63 %) patients presented with abnormal uroflowmetry and 11 (37 %) had equivocal parameters with no difference between the two groups. DISCUSSION: Dorsal Inlay Graft urethroplasty has long been known to be safe and effective for primary hypospadias repair. On the other hand, data on dorsal inlay graft urethroplasty as a salvage surgery after primary hypospadias repair failure is scarce. Surprisingly, according to our findings, surgical outcomes and complication rates are comparable between primary and revision hypospadias cases. Additionally, our results in the redo group are absolutely encouraging if compared to those reported in the literature for the same subset of patients. CONCLUSIONS: According to our findings, DIG urethroplasty is a safe and effective option to treat revision hypospadias repair.

Long-term results of laparoscopic gastric sleeve: the importance of follow-up adherence.

OBJECTIVE: This study was conducted to assess the long-term results of the Laparoscopic Sleeve Gastrectomy (LSG) in patients not compliant with follow-up, and in patients who completed a postoperative follow-up program. PATIENTS AND METHODS: The data concerning LSG patients operated from February 2011 to December 2013 were retrospectively reviewed basing on a single center database. The patients with complete long-term follow-up were scheduled in Group A, while patients who failed to attend controls for more than two years were scheduled in Group B. Long-term results (weight loss, comorbidity improvement and late complications) were compared between the two groups. RESULTS: The study population consisted of 285 patients. Of these, 101 had a complete follow-up with a mean duration of 71 ± 7.6 months (Group A). The remaining 184 patients (Group B) were not compliant with follow-up and, consequently, the mean duration of follow-up was 5.5 ± 7.3 months (p < 0.00001). A higher number of patients with insufficient weight loss was recorded in Group B with respect to Group A (78 vs. 23; p = 0.001). The number of patients with results below 25% EWL was significantly higher in Group B than in Group A (24 vs. 5; p = 0.04). In the long-term, the rate of patients with symptomatic reflux requiring medical treatment was two-fold higher in Group B than in Group A. CONCLUSIONS: The adherence to a long-term follow-up plan after LSG seems to decrease the number of patients experiencing insufficient weight loss and those at risk for developing a gastro-esophageal reflux disease.

Gastric Bypass after multiple restrictive procedures: Roux-en-Y or One Anastomosis? A retrospective multicentric study.

OBJECTIVE: When restrictive surgery fails, conversion to more malabsorptive techniques is frequently proposed. The aim of this study is to evaluate the weight loss figures between Roux-en-Y Gastric Bypass (RYGB) and One Anastomosis Gastric Bypass (OAGB) in patients who have already undergone Multiple Restrictive Procedures (MRP). PATIENTS AND METHODS: All patients who underwent conversion of Laparoscopic Sleeve Gastrectomy (LSG) to RYGB or OAGB between 2010 and 2019 were retrospectively analyzed. Only patients who had conversion for Weight Regain (WR) or Insufficient Weight Loss (IWL) after both Laparoscopic Gastric Banding (LGB) and LSG entered the study population. Finally, 44 patients underwent conversion to RYGB, and 24 patients to OAGB. RESULTS: Concerning Excess Weight Loss (%EWL) at 3, 6, 12, 24 postoperative months, the results for RYGB were 33.7%, 47.95%, 61.8%, 61.8%, while for OAGB were 38.3%, 51.9%, 63.75%, 79.45%. A significant difference was recorded in favor of OAGB at 3 (p=0.03) and 24 (p=0.046) postoperative months. % EWL at 24 months in the case of IWL was 57.8% for RYGB, while for OAGB was 72.7% (p=0.047). No significant difference was found considering patients with WR (80.9% and 80.5%; p= 0.999). Patients with better results at 24 months after surgery had a significantly longer time between sleeve and bypass than those with a lower % EWL. CONCLUSIONS: The results of the present study seem to show that both techniques give good results at 24 months in patients who have undergone MRP. However, OAGB shows overall better results, particularly in patients with IWL.

The role of antral resection in sleeve gastrectomy. An observational comparative study.

OBJECTIVE: The role of antral resection (AR) in laparoscopic sleeve gastrectomy (LSG) is still a greatly debated topic in the literature. The aim of this study was to evaluate the results and complications of AR in LSG. PATIENTS AND METHODS: In this observational comparative study, 101 patients who underwent LSG were divided into two groups based on the extent of antral resection: 1 cm from the pylorus (1-DP group), or 6 cm from the pylorus (6-DP group). The %EWL (%Excess weight loss), resolution of T2D (Type 2 Diabetes Mellitus) and GLP-1 were investigated 48 hours before surgery and 3, 6 and 12 months after LSG. Postoperative complications in the first 30 days after surgery were also compared between the two groups using the Clavien-Dindo (CD) score. RESULTS: A significant difference in %EWL was observed at 3 and 6 months in favor of the 1-DP group (38.9% and 57.8%, respectively) compared to the 6-DP group (31.4% and 49.7%, respectively). No difference in T2D resolution was observed between two groups during the follow-up period, with similar changes in GLP-1. Statistically significant differences were found between 1-DP and 6-DP group for the reintervention rate (CD III, 7.7% and 1.9%, respectively; p = 0.02) and life-threatening complications requiring intensive care unit management (CD IV, 3.8% and 0%, respectively, p = 0.03). CONCLUSIONS: In LSG, sparing the antrum is associated with a significant reduction in the rate of postoperative complications, but the metabolic and weight results are comparable to those for antrum resection.

Viral clearance after early corticosteroid treatment in patients with moderate or severe covid-19.

The aim of this study was to evaluate the impact of early treatment with corticosteroids on SARS-CoV-2 clearance in hospitalized COVID-19 patients. Retrospective analysis on patients admitted to the San Raffaele Hospital (Milan, Italy) with moderate/severe COVID-19 and availability of at least two nasopharyngeal swabs. The primary outcome was the time to nasopharyngeal swab negativization. A multivariable Cox model was fitted to determine factors associated with nasopharyngeal swab negativization. Of 280 patients included, 59 (21.1%) patients were treated with steroids. Differences observed between steroid users and non-users included the proportion of patients with a baseline PaO2/FiO2 ≤ 200 mmHg (45.8% vs 34.4% in steroids and non-steroids users, respectively; p = 0.023) or ≤ 100 mmHg (16.9% vs 12.7%; p = 0.027), and length of hospitalization (20 vs 14 days; p < 0.001). Time to negativization of nasopharyngeal swabs was similar in steroid and non-steroid users (p = 0.985). According to multivariate analysis, SARS-CoV-2 clearance was associated with age ≤ 70 years, a shorter duration of symptoms at admission, a baseline PaO2/FiO2 > 200 mmHg, and a lymphocyte count at admission > 1.0 × 109/L. SARS-CoV-2 clearance was not associated with corticosteroid use. Our study shows that delayed SARS-CoV-2 clearance in moderate/severe COVID-19 is associated with older age and a more severe disease, but not with an early use of corticosteroids.

Successful laparoscopic trans-peritoneal repair of an incisional inguinal hernia, resulting from deep lymph node dissection for melanoma: A case report.

INTRODUCTION: Deep pelvic lymph node dissection for cancer may result in incisional inguinal hernias. We present a case report of successful laparoscopic trans-peritoneal repair of a large ventral inguinal hernia that developed following ileo-inguinal lymph node dissection (CLND) for melanoma. CASE PRESENTATION: A successful 3 port laparoscopic trans-peritoneal procedure was performed on a 56-year-old female for the repair of a left inguinal hernia, developed 13 months following CLND for melanoma. The large oval 18 × 14 cm inguinal defect, with superior margins bordering the conjoint tendon and inferior margins bordering the ileo-psoas muscle, femoral vessels and nerve, was not closed in order to avoid excessive tension and was repaired by fixing a 25 × 20 cm intra-peritoneal mesh to abdominal borders at superior and lateral margins with permanent fasteners and at the inferior margin by a cyanoacrylate-glued overlap to protect femoral vessels and nerves from damage. No hernia recurrence was observed 8 months following this procedure. DISCUSSION: Incisional inguinal hernias, following CLND, are rare but present a challenge to surgeons due to the difficulty in identifying both anatomical plains and safe sites for stable repair. CONCLUSIONS: We report a laparoscopic trans-peritoneal approach for the safe, reproducible and efficacious repair of incisional inguinal hernias that result from CLND. In our opinion prevention of hernia recurrence can be achieved by a intraperitoneal large mesh fixed at superior and lateral margin borders with permanent fasteners and using cyanoacrylate glue to overlap inferior margin borders in order to prevent vessels and/or nerve injury.

Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement.

BACKGROUND: Low skin-related quality of life (QoL) is usually associated with low levels of self-confidence and self-esteem and with high levels of anxiety and depression symptoms. The way patients cope with a physical disease impacts significantly on their psychosocial adjustment to the disorder and on their emotional functioning. OBJECTIVES: To explore how coping strategies, skin-related QoL, psychological distress and self-esteem interact in a sample of individuals with neurofibromatosis type 1 (NF1). METHODS: Seventy-two adult patients with NF1 completed the following questionnaires: Coping Orientation to Problem Experiences (COPE), Skindex-29, Padua Skin-Related QoL questionnaire (PSRQ), State-Trait Anxiety Inventory-X2 form (STAI-X2), Depression Questionnaire (DQ) and Rosenberg Self-Esteem Scale (RSES). The k-modes algorithm was used to identify clusters of patients based on four variables: sex, NF1 severity, number and distribution of cutaneous neurofibromas. Individuals in different clusters were compared with regard to their scores; correlations between scores were analysed within each cluster. RESULTS: Two main clusters were identified: individuals in Cluster 1 had a larger number and more widespread distribution of neurofibromas compared with Cluster 2. Patients in Cluster 1 scored higher only on several PSRQ and Skindex-29 scales. Among patients in Cluster 1, the COPE 'avoidance strategies' scale was significantly correlated with the PSRQ 'physical distress and impairments' scale, the Skindex-29 'physical symptoms' and 'functioning' scales, the STAI-X2, the DQ and the RSES. CONCLUSIONS: Patients with major skin involvement have reduced skin-related QoL. Among them, current findings tentatively suggest that the higher the use of dysfunctional coping, the more impaired are QoL, psychological distress and self-esteem. What's already known about this topic? Neurofibromatosis type 1 (NF1) can affect the quality of life (QoL) in adolescent and adult patients. Low skin-related QoL is usually associated with low levels of self-confidence and self-esteem and with high levels of anxiety and depression symptoms. Questionnaires evaluating skin-related QoL, anxiety, depression, self-esteem and coping are available. What does this study add? Patients with a large number and a widespread distribution of cutaneous neurofibromas have reduced skin-related QoL compared with patients with minor skin involvement. The newly developed Padua Skin-Related QoL questionnaire allows the simultaneous evaluation of discomfort and comfort skin-related QoL dimensions in patients with NF1. Among patients with major skin involvement, the higher the use of dysfunctional coping, the more impaired are skin-related QoL, psychological distress and self-esteem. Our data suggest that patients with NF1 with major skin involvement who endorse dysfunctional beliefs about their own coping abilities might benefit from psychological counselling and coping skills treatments aiming to both improve perceived self-efficacy and learn more adaptive coping strategies.

Advanced Merkel cell carcinoma of the lower extremity treated with surgery and isolated pelvic and limb perfusion using Melphalan: A case of unexpected long-term survival.

INTRODUCTION: Merkel cell carcinoma (MCC) is a rare, neuroendocrine skin tumor, with high frequency of locoregional recurrence, metastases, and poor prognosis. Locoregional MCC recurrence in the extremities can pose considerable treatment challenges. We report a case of long-term survival in a female patient with recurrent MCC of the leg, treated with surgery and locoregional chemotherapy. PRESENTATION OF CASE: A 73-year-old female with cirrhosis and hepatitis C, developed cutaneous MCC in the left inferior limb. This patient initially received surgical treatment, with subsequent negative sentinel lymph-node biopsy in another center, one-month prior recovery in our department, and arrived with 4 new limb nodules, cranially to the previously treated area, without distant metastases or inguinal lymph node recurrence. This patient was not eligible for immunotherapy due to active hepatitis upon treatment with NS5B inhibitors, or eligible for systemic chemotherapy or radiotherapy due to severe neutropenia and was, therefore, subjected to surgical resection combined with Isolated Pelvic and Limb Perfusion (IPLP) with Melphalan. Histological evaluation confirmed MCC diagnosis and during the following 4 months, she developed further locoregional recurrences with homolateral inguinal lymph node involvement and was subjected to two additional rounds of surgery plus IPLP. DISCUSSION: All procedures were tolerated, systemic toxicities were temporary and subsequent clinical and radiological follow-up, following the last combined treatment, indicated that this patient was still alive and disease-free, at 56 months. CONCLUSION: In this case, surgery combined with locoregional Melphalan chemotherapy was an effective and repeatable treatment for recurrent MMC and resulted in unexpected long-term survival.

Early diagnosis of anastomotic leakage after colorectal surgery by the Dutch leakage score, serum procalcitonin and serum C-reactive protein: study protocol of a prospective multicentre observational study by the Italian ColoRectal Anastomotic Leakage (iC.

BACKGROUND: Anastomotic leakage (AL) is a dreaded major complication after colorectal surgery. There is no uniform definition of anastomotic dehiscence and leak. Over the years many risk factors have been identified (distance of anastomosis from anal verge, gender, BMI, ASA score) but none of these allows an early diagnosis of AL. The DUtch LeaKage (DULK) score, C reactive protein (CRP) and procalcitonin (PCT) have been identified as early predictors for anastomotic leakage starting from postoperative day (POD) 2-3. The study was designed to prospectively evaluate AL rates after colorectal resections, in order to give a definite answer to the need for clear risk factors, and testing the diagnostic yeld of DULK score and of laboratory markers. Methods and analysis. A prospective enrollment for all patients undergoing elective colorectal surgery with anastomosis carried out from September 2017 to September 2018 in 19 Italian surgical centers. OUTCOME MEASURES: preoperative risk factors of anastomotic leakage; operative parameters; leukocyte count, serum CRP, serum PCT and DULK score assessment on POD 2 and 3. Primary endpoint is AL; secondary endpoints are minor and major complications according to Clavien-Dindo classification; morbidity and mortality rates; readmission and reoperation rates, length of postoperative hospital stay (Retrospectively registered at ClinicalTrials.gov Identifier: NCT03560180, on June 18, 2018). Ethics. The ethics committee of the "Comitato Etico Regionale delle Marche - C.E.R.M." reviewed and approved this study protocol on September 7, 2017 (protocol no. 2017-0244-AS). All the participating centers submitted the protocol and obtained authorization from the local Institutional Review Board.

Numerical activities of daily living in adults with neurofibromatosis type 1.

BACKGROUND: This study aimed to identify the mathematical domains affected in adults with neurofibromatosis 1 (NF1) and the impact of the numerical difficulties on the patients' activities of daily living. METHODS: We assessed 28 adult patients with NF1 and 28 healthy control participants. All participants completed the standardised battery of numerical activities of daily living along with clinical batteries of cognitive (Mini-Mental State Examination) and daily functioning (instrumental activities of daily living). The group comparisons of the performance on numerical activities of daily living were carried out using t-test correcting for multiple comparisons. RESULTS: The results showed that the NF1 group performed worse than controls in written subtractions, written multiplication, multiplication principles and digit comprehension (dot counting) tasks. Importantly, no significant differences in numerical ecological tasks were found between patients and controls, suggesting a possible use of compensatory strategies in daily living abilities in spite of calculation deficits. CONCLUSION: The findings indicate that NF1 affects calculation but not the basic comprehension or representation of numbers in adult patients. These data have important implications for designing cognitive interventions tailored to the cognitive profile of individuals with NF1.

Role and potential therapeutic use of antibodies against herpetic infections.

BACKGROUND: The cellular adaptive response directed against herpesviruses is widely described in the scientific literature as a pivotal component of the immune system able to control virus replication. The role of humoral immunity remains unclear and controversial. AIMS: Discussing the role of adaptive immunity in herpesvirus infection control, highlighting the potential role of the humoral branch of immunity through the description of human monoclonal antibodies directed against herpesviruses. SOURCES: PubMed search for relevant publications related to protective immunity against Herpesviridae. CONTENT: This review describes the role of adaptive immunity directed against Herpesviridae, focusing on the human humoral response naturally elicited during their infections. Given the ever-increasing interest in monoclonal antibodies as novel therapeutics, the contribution of humoral immunity in controlling productive infection, during both primary infection and reactivations, is discussed. IMPLICATIONS: Human monoclonal antibodies directed against the different Herpesviridae species may represent novel molecular probes to further characterize the molecular machinery involved in herpesvirus infection; and allow the development of novel therapeutics and effective vaccine strategies.

Control of infectious mortality due to carbapenemase-producing Klebsiella pneumoniae in hematopoietic stem cell transplantation.

Carbapenemase-producing Klebsiella pneumoniae (KPC-Kp) infections are an emerging cause of death after hematopoietic stem cell transplantation (HSCT). In allogeneic transplants, mortality rate may rise up to 60%. We retrospectively evaluated 540 patients receiving a transplant from an auto- or an allogeneic source between January 2011 and October 2015. After an Institutional increase in the prevalence of KPC-Kp bloodstream infections (BSI) in June 2012, from July 2012, 366 consecutive patients received the following preventive measures: (i) weekly rectal swabs for surveillance; (ii) contact precautions in carriers (iii) early-targeted therapy in neutropenic febrile carriers. Molecular typing identified KPC-Kp clone ST512 as the main clone responsible for colonization, BSI and outbreaks. After the introduction of these preventive measures, the cumulative incidence of KPC-Kp BSI (P=0.01) and septic shocks (P=0.01) at 1 year after HSCT was significantly reduced. KPC-Kp infection-mortality dropped from 62.5% (pre-intervention) to 16.6% (post-intervention). Day 100 transplant-related mortality and KPC-Kp infection-related mortality after allogeneic HSCT were reduced from 22% to 10% (P=0.001) and from 4% to 1% (P=0.04), respectively. None of the pre-HSCT carriers was excluded from transplant. These results suggest that active surveillance, contact precautions and early-targeted therapies, may efficiently control KPC-Kp spread and related mortality even after allogeneic HSCT.

Metabolic syndrome in white European men presenting for primary couple's infertility: investigation of the clinical and reproductive burden.

Despite complex interactions between obesity, dyslipidemia, hyperinsulinaemia, and the reproductive axis, the impact of metabolic syndrome on human male reproductive function has not been analysed comprehensively. Complete demographic, clinical, and laboratory data from 1337 consecutive primary infertile men were analysed. Health-significant comorbidities were scored with the Charlson Comorbidity Index (categorised 0 vs. 1 vs. 2 or higher). NCEP-ATPIII criteria were used to define metabolic syndrome. Semen analysis values were assessed based on the 2010 World Health Organisation (WHO) reference criteria. Descriptive statistics and logistic regression models tested the association between semen parameters and clinical characteristics and metabolic syndrome. Metabolic syndrome was found in 128 (9.6%) of 1337 men. Patients with metabolic syndrome were older (p < 0.001) and had a greater Charlson Comorbidity Index of 1 or higher (chi-square: 15.6; p < 0.001) compared with those without metabolic syndrome. Metabolic syndrome patients had lower levels of total testosterone (p < 0.001), sex hormone-binding globulin (p = 0.004), inhibin B (p = 0.03), and anti-Müllerian hormone (p = 0.009), and they were hypogonadal at a higher rate (chi-square: 32.0; p < 0.001) than patients without metabolic syndrome. Conversely, the two groups did not differ significantly in further hormonal levels, semen parameters, and rate of either obstructive or non-obstructive azoospermia. At multivariate logistic regression analysis, testicular volume (OR: 0.90; p = 0.002) achieved independent predictor status for WHO pathological semen concentration; conversely, age, Charlson Comorbidity Index scores, metabolic syndrome, and inhibin B values did not. No parameters predicted normal sperm morphology and total progressive motility. Metabolic syndrome accounts for roughly 9% of men presenting for primary couple's infertility. Although metabolic syndrome patients have a lower general male health status, semen analysis values seem independent of the presence of metabolic syndrome.

Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies.

UNLABELLED: Objectives Growing interest focuses on the association between 5-HTTLPR polymorphism and eating disorders (ED), but published findings have been conflicting. Methods The Italian BIO.VE.D.A. biobank provided 976 samples (735 ED patients and 241 controls) for genotyping. We conducted a literature search of studies published up to 1 April 2015, including studies reporting on 5HTTLPR genotype and allele frequencies in obesity and/or ED. We ran a meta-analysis, including data from BIO.VE.D.A. - comparing low and high-functioning genotype and allele frequencies in ED vs. CONTROLS: Results Data from 21 studies, plus BIO.VE.D.A., were extracted providing information from 3,736 patients and 2,707 controls. Neither low- nor high-functioning genotype frequencies in ED patients, with both bi- and tri-allelic models, differed from controls. Furthermore, neither low- nor high-functioning allele frequencies in ED or in BN, in both bi- and triallelic models, differed from control groups. After sensitivity analysis, results were the same in AN vs. CONTROLS: Results remained unaltered when investigating recessive and dominant models. Conclusions 5HTTLPR does not seem to be associated with ED in general, or with AN or BN in particular. Future studies in ED should explore the role of ethnicity and psychiatric comorbidity as a possible source of bias.

HIV DNA loads, plasma residual viraemia and risk of virological rebound in heavily treated, virologically suppressed HIV-infected patients.

In this single-centre, retrospective study, we analyzed data of 194 patients receiving antiretroviral therapy with <50 human immunodeficiency virus (HIV) RNA copies/mL in plasma and 318 HIV RNA/DNA paired samples. By kinetic polymerase chain reaction (kPCR) molecular system analysis, 104 (54%) subjects had undetectable HIV RNA and 90 (46%) had residual viraemia. Median (interquartile range) HIV DNA load was 780 (380-1930) copies/10(6) peripheral blood lymphocytes (PBL), and HIV DNA loads were independently associated with residual viraemia (p 0.002). Virological rebound occurred in 29/194 (15%) patients over a median (interquartile range) follow-up of 17.5 (13.5-31.5) months. Residual viraemia (p 0.002), but not HIV DNA load, was independently associated with virological rebound.

Effect of Punicalagin and Resveratrol on Methionine Sulfoxide Reductase: A Possible Protective Contribution against Alzheimer's Disease.

Methionine sulfoxide reductase A (MsrA) has been postulated to act as a catalytic antioxidant system involved in the protection of oxidative stress-induced cell injury. MsrA has recently turned attention in coupling with the neurodegenerative disorders and in particular with Alzheimer disease. In fact this neurodegenerative disorder depends to a deposit of beta amyloid a peptide with an oxidizable methionine in position 35 which is proved able to modulate the expression to MsrA in neuronal cells. Here, we firstly provided evidence that pretreatment with Resveratrol and Punicalagin (a potent antioxidant extracted from pomegranate), up-regulate the expression and enzymatic activity of MsrA in human neuroblastoma IMR-32 cells with beta amyloid peptides. This effect determines a lowering of oxidative potential of the cells as demonstrated by the ROS measurement and a protective effect on cellular availability. Therefore we hypothesize a possible prevent role for these molecules in Alzheimer and in other neurodegenerative diseases.

Early molecular diagnosis of aspergillosis in a patient with acute myeloid leukaemia.

Diagnosis of invasive fungal infection remains challenging. Here we report a case of early diagnosis of invasive aspergillosis in a neutropenic patient affected by acute myeloid leukaemia, achieved through the detection of Aspergillus fumigatus species-specific ribonucleic acid sequences by a sensitive multiplex real-time polymerase chain reaction-based molecular assay. Thanks to the early diagnosis, targeted therapy was promptly established and the severe fungal infection controlled, allowing the patient to subsequently receive allogeneic hematopoietic stem cell transplantation from a haploidentical donor, her only curative option. Also in this instance, targeted secondary antifungal prophylaxis with voriconazole avoided any other fungal infection afterwards. This report suggests how the implementation of molecular assays in combination with routine diagnostic procedures, can improve microbiological diagnosis in sepsis, particularly in case of fungal infection, difficult to detect with standard microbiological culture methods.