Clinical characteristics and phenotypical and molecular analysis in a series of patients with refractory sprue. Preliminary results

A rare ocular dirofilariasis case along with the clinical characteristics, treatment, and outcome is reported. A whitish roundworm (10.6 cm long and 0.5 mm width) emerged from the pterygium, a triangular tissue growth on the cornea of the eye, of a male patient. The worm had a rounded anterior part, mouth without lips, smooth cuticular surface, and short rounded posterior tail with spicules: these features suggested that it was a male Dirofilaria sp. Molecular identification confirmed that the worm belonged to Dirofilaria immitis. This is the first molecular confirmation that D. immitis is a causative agent of ocular dirofilariasis in Thailand: dirofilariasis is a newly emerging zoonotic disease. Physicians should be alert to zoonotic filarial worms and knowledgeable about treatment of this disease.

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Head and neck cutaneous leishmania: clinical characteristics, microscopic features and molecular analysis in a cohort of 168 cases

European Archives of Oto-Rhino-Laryngology ◽

10.1007/s00405-016-3978-5 ◽

2016 ◽

Vol 273 (11) ◽

pp. 3819-3826

Author(s):

Gabriel Dunya ◽

Robert Habib ◽

Roger V. Moukarbel ◽

Ibrahim Khalifeh

Keyword(s):

Head And Neck ◽

Molecular Analysis ◽

Clinical Characteristics ◽

Microscopic Features

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Is It Time for Early Cessation of Empirical Antibiotherapy in Patients Presenting with Febrile Neutropenia? Preliminary Results of a Risk-Adapted Approach in a Hematology Clinic

Blood ◽

10.1182/blood.v128.22.2503.2503 ◽

2016 ◽

Vol 128 (22) ◽

pp. 2503-2503

Author(s):

Ali Hakan Kaya ◽

Emre Tekgunduz ◽

Filiz Bekdemir ◽

Hikmetullah Batgi ◽

Tugcenur Yigenoglu ◽

...

Keyword(s):

Febrile Neutropenia ◽

Clinical Characteristics ◽

Cost Effective ◽

High Risk Group ◽

Risk Category ◽

Study Cohort ◽

Preliminary Results ◽

Mascc Score ◽

Infectious Focus ◽

Neutropenic Patients

Abstract Introduction : Febrile neutropenia (FN) is an important cause of mortality in hematology practice. Prompt recognition and treatment of FN is crucial to prevent development of sepsis and subsequent mortality. The duration of empirical antibiotherapy in hemodynamically stabile, afebrile, culture negative patients without an infectious focus is a controversial issue. Recently published guidelines encourage the use of early cessation of empirical antibiotherapy in these patients. Here we report our preliminary experience of early discontinuance of empirical antibiotherapy in febrile neutropenic patients who were treated with a risk-adapted strategy. Methods: All consecutive patients who were treated during June 2014-April 2016 period and presented with FN were included. Demographic and clinical data of patient cohort was prospectively collected within the context of institutional FN registry and analyzed retrospectively. Previously established standard criteria are used to diagnose FN episodes. MASCC score defined the risk category of patients. A new FN episode was considered when FN re-occurred in a patient who remained afebrile for at least 72 hours after discontinuation of antibiotics. All patients were treated within the framework of a written, institutional FN guideline, which is in line with EGIL-4 (European Conference on Infections in Leukemia) recommendations. Empirical antibiotherapy was stopped in patients, who were hemodynamically stabile, had no infectious focus, had negative culture results, received broad-spectrum empiric antibiotherapy for 3 days and were afebrile for at least 2 days. Results: The study included a total of 137 patients (87 males-50 females). Median age of patients was 49 (16-87). All patients were in high-risk group according to MASSC criteria. Demographic and clinical features of the study cohort are summarized in Table-1. During the study period 249 FN episodes were evaluated. Empirical antibiotherapy was discontinued in 47 (18,9%) FN episodes in 44 (32,1%) patients. Following cessation of empirical antibiotherapy, 11 (23,4%) new FN episodes developed and no patient infection-related deaths in the following 100 days. Discussion: Our preliminary results indicate that cessation of empirical antibiotherapy in a strictly defined patient population with FN seems to be feasible. We were able to stop antibiotherapy in 18,9% of patients and 76,6% of them did not experience a new FN episode. This strategy is cost-effective and seems to be quite safe, as we did not observed any infection-related deaths in the first 100 days following discontinuation of antibiotherapy. These patients were also protected from possible side effects of unnecessary antibiotics. Future studies will define the role of this provocative approach and may change the way we treat febrile neutropenic patients. Table Demographic and clinical characteristics of patients Table. Demographic and clinical characteristics of patients Disclosures Demirkan: Amgen: Consultancy.

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PTEN hamartoma tumor syndrome (PHTS): Clinical characteristics, onco-phenotype, and molecular analysis.

Journal of Clinical Oncology ◽

10.1200/jco.2010.28.15_suppl.1510 ◽

2010 ◽

Vol 28 (15_suppl) ◽

pp. 1510-1510

Author(s):

M. M. Patnaik ◽

S. Khambatta ◽

S. I. Robinson ◽

R. L. Richardson ◽

M. P. Goetz

Keyword(s):

Molecular Analysis ◽

Clinical Characteristics ◽

Pten Hamartoma Tumor Syndrome

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Clinical Characteristics and Molecular Analysis of 21 Chinese Children with Congenital Agammaglobulinemia

Scandinavian Journal of Immunology ◽

10.1111/j.1365-3083.2010.02457.x ◽

2010 ◽

Vol 72 (5) ◽

pp. 454-459 ◽

Cited By ~ 11

Author(s):

Z.-Y. Zhang ◽

X.-D. Zhao ◽

L.-P. Jiang ◽

E.-M. Liu ◽

M. Wang ◽

...

Keyword(s):

Molecular Analysis ◽

Clinical Characteristics ◽

Chinese Children

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Food allergy in Italian paediatric population: Preliminary results of a nationwide study on prevalence, clinical characteristics and common diagnostic approaches

Digestive and Liver Disease ◽

10.1016/j.dld.2007.07.122 ◽

2007 ◽

Vol 39 (10) ◽

pp. A77

Author(s):

M. Tardi ◽

G. Guariso ◽

S. Ruotolo ◽

A. Castaldo ◽

G. Florio ◽

...

Keyword(s):

Food Allergy ◽

Clinical Characteristics ◽

Paediatric Population ◽

Nationwide Study ◽

Preliminary Results ◽

Diagnostic Approaches

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Clinical Characteristics and Molecular Analysis of PIT1, PROP1,LHX3, and HESX1 in Combined Pituitary Hormone Deficiency Patients with Abnormal Pituitary MR Imaging

Hormone Research in Paediatrics ◽

10.1159/000074245 ◽

2003 ◽

Vol 60 (6) ◽

pp. 277-283 ◽

Cited By ~ 13

Author(s):

Sung-Su Kim ◽

Youngho Kim ◽

Young-Lim Shin ◽

Gu-Hwan Kim ◽

Tae-Ue Kim ◽

...

Keyword(s):

Mr Imaging ◽

Molecular Analysis ◽

Clinical Characteristics ◽

Hormone Deficiency ◽

Pituitary Hormone ◽

Pituitary Hormone Deficiency ◽

Combined Pituitary Hormone Deficiency

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Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis

Jornal Brasileiro de Pneumologia ◽

10.1590/s1806-37132013000200009 ◽

2013 ◽

Vol 39 (2) ◽

pp. 181-189 ◽

Cited By ~ 2

Author(s):

Vinícius Buaes Dal'Maso ◽

Lucas Mallmann ◽

Marina Siebert ◽

Laura Simon ◽

Maria Luiza Saraiva-Pereira ◽

...

Keyword(s):

Cystic Fibrosis ◽

Molecular Analysis ◽

Clinical Characteristics ◽

Genetic Diagnosis ◽

Cftr Gene ◽

Sweat Test ◽

Common Mutation ◽

Transmembrane Conductance Regulator ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

OBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional study involving adolescents and adults aged ≥ 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics. RESULTS: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S. CONCLUSIONS: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.

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