Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis

This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab region, Northwestern Indian. Hemoglobin D-Punjab can be inherited in heterozygosis with hemoglobin A causing no clinical or hematological alterations, or in homozygosis, the rarest form of inheritance, a condition that is commonly not related to clinical symptomatology. Moreover, this variant can exist in association with other hemoglobinopathies, such as thalassemias; the most noticeable clinical alterations occur when hemoglobin D-Punjab is associated to hemoglobin S. The clinical manifestations of this association can be similar to homozygosis for hemoglobin S. Although hemoglobin D-Punjab is a common variant globally with clinical importance especially in cases of double heterozygosis, hemoglobin S/D-Punjab is still understudied. In Brazil, for example, hemoglobin D-Punjab is the third most common hemoglobin variant. Thus, this paper summarizes information about the origin, geographic distribution, characterization and occurrence of hemoglobin D-Punjab haplotypes to try to improve our knowledge of this variant. Moreover, a list of the main techniques used in its identification is provided emphasizing the importance of complementary molecular analysis for accurate diagnosis.

Squamous odontogenic tumor: literature review focusing on the radiographic features and differential diagnosis

Since its first publication in 1975, the squamous odontogenic tumor remains the rarest odontogenic lesion, with around 50 cases in the English-language literature in which the microscopic characteristics are frequently very well demonstrated. However, articles which discuss the radiographic aspects are scarce, especially with emphasis on the differential diagnosis. The present treatise proposes an assessment of jaw lesions with the same radiographic characteristics of the squamous odontogenic tumor to clarify the main findings for dental clinicians during routine diagnosis.

Anthropometric indicators predict metabolic syndrome diagnosis in maintenance hemodialysis patients

Obesity has been considered the key in metabolic syndrome (MetS) development, and fat accumulation may be responsible for the occurrence of metabolic abnormalities in hemodialysis patients. The use of gold-standard methods to evaluate obesity is limited, and anthropometric measures may be the simplest methods. However, no study has investigated the association between anthropometric indexes and MetS in these patients. Therefore, the aim was to determine which anthropometric indexes had the best association and prediction for MetS in patients undergoing hemodialysis. Cross-sectional study that included patients older than 18 years, undergoing hemodialysis for at least 3 months. Patients with liver disease and cancer or those receiving corticosteroids or antiretroviral therapy were excluded. Diagnostic criteria from Harmonizing Metabolic Syndrome were used for the diagnosis of MetS. Anthropometric indexes evaluated were body mass index (BMI); percent standard of triceps skinfold thickness and of middle arm muscle circumference; waist circumference (WC); sagittal abdominal diameter; neck circumference; waist-to-hip, waist-to-thigh, and waist-to-height ratios; sagittal index; conicity index; and body fat percentage. Ninety-eight patients were included, 54.1% male, and mean age was 57.8 ± 12.9 years. The prevalence of MetS was 74.5%. Individuals with MetS had increased accumulation of abdominal fat and general obesity. Waist-to-height ratio was the variable independently associated with MetS diagnosis (odds ratio, 1.21; 95% confidence interval, 1.09-1.34; P < .01) and that better predicts MetS, followed by WC and BMI (area under the curve of 0.840, 0.836, and 0.798, respectively, P < .01). Waist-to-height ratio was the best anthropometric predictor of MetS in maintenance hemodialysis patients.

Validation of absolute quantitative real-time PCR for the diagnosis of streptococcus agalactiae in fish

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Subclinical diagnosis of Caseous lymphadenitis based on Elisa in Sheep from Brazil

Caseous lymphadenitis (CLA), caused by Corynebacterium pseudotuberculosis, is a chronic contagious disease that affects small ruminants and still remains an important problem for many lamb-producing countries. Animals are considered clinically infected when occurs abscesses in superficial lymph nodes. Visceral or internal form can coexist which no apparent clinical signs of infection are seen. The best procedure to avoid spread of the disease is elimination of infected animals. However, as the chronic and subclinical nature of the infection of CLA alternative methods are required for detection and screening. In this study, we described the performance of indirect Enzyme-Linked Immunosorbent Assay (ELISA) for diagnosis of CLA in asymptomatics sheep. Also, test culture and biochemical identification were achieved to confirm CLA infection. The serological diagnostic was performed in sheep symptomatics (n=50) and asymptomatics (n=374) from nine flocks. Analysis reported high positivity of 71% for ELISA in 85% of asymptomatic animal for CLA with a sensitivity of 88% and specificity of 31%. Results from ELISA test in asymptomatic animals against culture for caseous lymphadenitis were more specific (97%) and permitted to exclude healthy animals without symptoms. This study concluded that C. pseudotuberculosis infection could be widely disseminated in sheep flocks in Northwestern region of the state of São Paulo, Brazil and only one screening test is not enough. The association with indirect ELISA test and culture could better indicate the real problem of CLA in sheep flocks.

Cytopathology in the diagnosis of oral trichomoniasis in a rock pigeon (columba livia)

A Rock Pigeon (Columba livia) submitted for necropsy had an oral white-yellow mass with a friable surface and putrid odor. Impression smears were performed and tissue samples were collected for histopathology. Cytopathological analysis revealed numerous pyriform protozoa, compatible with Trichomonas gallinae. Protozoans were not evident within the lesions by histopathology after staining the samples with Hematoxylin and Eosin or Gomori methenamine silver (GMS) stain. We conclude that impression smears from avian oral trichomoniasis suspects, even during post-mortem evaluation, can be a useful technique for the diagnosis of this disease.

Hepatitis C infection: challenges in dental management and diagnosis of extrahepatic manifestations

Hepatitis C is associated with autoimmune diseases, hepatocellular carcinoma,and extrahepatic manifestations that, in conjunction, may seriously compromise the patient's quality of life. We herein describe a case of chronic hepatitis C with oral manifestations and discuss some implications for diagnosis and treatment. A 63-year-old woman complaining of spontaneous bleeding of the oral mucosa presented with bilateral asymmetric ulcers surrounded by white papules and striae on the buccal mucosa. Her medical history revealed leucopenia, thrombocytopenia, and skin lesions associated with chronic hepatitis C. Propranolol and ranitidine had recently been prescribed. Lichen planus, lichenoid reaction, and erythema multiforme were considered in the differential diagnosis. Histopathological analysis revealed lymphocytic infiltrate in a lichenoid pattern. The lesions partially healed after 1 week and completely regressed after 6 months, despite the maintenance of all medications; no recurrence was observed. The final diagnosis was oral lichen planus associated with hepatitis C. Chronic hepatitis C may present oral manifestations, which demand adjustments in dental treatment planning. Medication side effects may interfere with the clinical presentation and course of the disease and should be accounted for in the differential diagnosis. The possibility of spontaneous remission of oral lichen planus should always be considered, especially when putative etiological factors of a lichenoid lesion are withdrawn in an attempt to differentiate oral lichen planus from lichenoid lesions. This case emphasizes the importance of recognizing the extrahepatic manifestations of hepatitis C as a cause of increased morbidity.

Cytopathology in the diagnosis of oral trichomoniasis in a Rock Pigeon (Columba livia)

A Rock Pigeon (Columba livia) submitted for necropsy had an oral white-yellow mass with a friable surface and putrid odor. Impression smears were performed and tissue samples were collected for histopathology. Cytopathological analysis revealed numerous pyriform protozoa, compatible with Trichomonas gallinae. Protozoans were not evident within the lesions by histopathology after staining the samples with Hematoxylin and Eosin or Gomori methenamine silver (GMS) stain. We conclude that impression smears from avian oral trichomoniasis suspects, even during post-mortem evaluation, can be a useful technique for the diagnosis of this disease.

Preliminary diagnosis of ophtalmological diseases through machine learning techniques

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Diagnostic accuracy of the EMG parameters associated with anterior knee pain in the diagnosis of patellofemoral pain syndrome

Objective To assess the diagnostic accuracy of the surface electromyography (sEMG) parameters associated with referred anterior knee pain in diagnosing patellofemoral pain syndrome (PFPS). Design Sensitivity and specificity analysis. Setting Physical rehabilitation center and laboratory of biomechanics and motor control. Participants Pain-free subjects (n=29) and participants with PFPS (n=22) selected by convenience. Interventions Not applicable. Main Outcome Measure The diagnostic accuracy was calculated for sEMG parameters’ reliability, precision, and ability to differentiate participants with and without PFPS. The selected sEMG parameter associated with anterior knee pain was considered as an index test and was compared with the reference standard for the diagnosis of PFPS. Intraclass correlation coefficient, SEM, independent t tests, sensitivity, specificity, negative and positive likelihood ratios, and negative and positive predictive values were used for the statistical analysis. Results The medium-frequency band (B2) parameter was reliable (intraclass correlation coefficient=.80–.90), precise (SEM=2.71–3.87 normalized unit), and able to differentiate participants with and without PFPS (P<.05). The association of B2 with anterior knee pain showed positive diagnostic accuracy values (specificity, .87; sensitivity, .70; negative likelihood ratio, .33; positive likelihood ratio, 5.63; negative predictive value, .72; and positive predictive value, .86). Conclusions The results provide evidence to support the use of EMG signals (B2 – frequency band of 45–96Hz) of the vastus lateralis and vastus medialis muscles with referred anterior knee pain in the diagnosis of PFPS.

Diagnosis and management of gastroesophageal reflux disease

Gastroesophageal reflux disease (GERD) is probably one of the most prevalent diseases in the world that also compromises the quality of life of the affected significantly. Its incidence in Brazil is 12%, corresponding to 20 million individuals. OBJECTIVE: To update the GERD management and the new trends on diagnosis and treatment, reviewing the international and Brazilian experience on it. METHOD: The literature review was based on papers published on Medline/Pubmed, SciELO, Lilacs, Embase and Cochrane crossing the following headings: gastroesophageal reflux disease, diagnosis, clinical treatment, surgery, fundoplication. RESULTS: Various factors are involved on GERD physiopathology, the most important being the transient lower esophageal sphincter relaxation. Clinical manifestations are heartburn, regurgitation (typical symptoms), cough, chest pain, asthma, hoarseness and throat clearing (atypical symptoms), which may be followed or not by typical symptoms. GERD patients may present complications such as peptic stenosis, hemorrhage, and Barrett's esophagus, which is the most important predisposing factor to adenocarcinoma. The GERD diagnosis must be based on the anamnesis and the symptoms must be evaluated in terms of duration, intensity, frequency, triggering and relief factors, pattern of evolution and impact on the patient's quality of life. The diagnosis requires confirmation with different exams. The goal of the clinical treatment is to relieve the symptoms and surgical treatment is indicated for patients who require continued drug use, with intolerance to prolonged clinical treatment and with GERD complications. CONCLUSION: GERD is a major digestive health problem and affect 12% of Brazilian people. The anamnesis is fundamental for the diagnosis of GERD, with special analysis of the typical and atypical symptoms (duration, intensity, frequency, triggering and relief factors, evolution and impact on the life quality). High digestive endoscopy and esophageal pHmetry are the most sensitive diagnosctic methods. The clinical treatment is useful in controlling the symptoms; however, the great problem is keeping the patients asymptomatic over time. Surgical treatment is indicated for patients who required continued drug use, intolerant to the drugs and with complicated forms of GERD.

Cytological result of in situ ductal carcinoma in nipple discharge: a rare diagnosis

Background: More than half of women present nipple discharge during reproductive age. Case: This case is about a 36 years old woman with unilateral spontaneous hyaline nipple discharge associated with breast pain. The study of scintimammography was compatible with multifocal proliferative lesion in situ. It was performed cytological smear of nipple discharge. It was paucicellular smear represented by cluster of ductal cells in three-dimensional design with hyperchromatic nuclei in the presence of myoepithelial cells. Red cells and signs of necrosis were not observed. The diagnosis of in situ ductal carcinoma was confirmed in biopsy and mastectomy specimen through the expression of calponin in myoepithelial cells at immunohistochemistry. It is known that the cytological examination of nipple discharge has low sensitivity and specificity. However, it is an easy and inexpensive procedure. Suspicious or positive results, may be important for guidance workup of patients in order to perform earlier diagnosis of malignancy. Conclusion: this case demonstrates that in situ ductal carcinoma can be characterized by positive nipple discharge, and cytology sample is an important tool for the diagnosis of suspicion of malignancy and further diagnostic investigation.

Consumption Diagnosis of Sweet Cassava in three Municipalities in Cuba

Cassava is an important staple food for human and animal feeding in Cuba. Despite its importance, there is little or nonexistent information to diagnose preferences and frequency of consumption of cassava in that country. In this sense, the present article characterizes the preferences and frequency of consumption of cassava in the municipalities of Plaza de la Revolución-La Habana province, El Salvador–Guantanamo province and San José de Las Lajas–Mayabeque province in Cuba. A survey was conducted through a questionnaire containing twelve closed and two open questions. The sample was determined based on the number of total population of each municipality considering 95% as confidence interval and 5% as error margin. The results were statistically analyzed by calculating the absolute and the relative frequencies of each question. It was observed that the acquisition of cassava in the municipalities of Plaza de la Revolución, El Salvador and San José de las Lajas in Cuba is done by purchase small quantities of fresh cassava for home consumption within one week, due to the extreme perishability of cassava, which limits consumers' ability to store fresh roots at home. The choice of cassava is made based on both skin colour (light brown) and pulp (white) and empirical knowledge about its ease of cooking, and that cassava is mostly consumed in boiled and fried forms up to four times a week in times where there is root market supply with the desirable culinary characteristics (cooking facility), that is, from September to December.

Advances in Bovine Tuberculosis Diagnosis and Pathogenesis: What Policy Makers Need to Know

The mainstay of tuberculosis diagnosis in cattle and deer has been the tuberculin skin test. Recent advances have allowed the incorporation of blood based assays to the diagnostic arsenal for both cattle and deer. Use of defined and specific antigens has allowed for improved specificity of cell mediated assays in both cattle and deer and advances in antibody tests for tuberculosis have potential for use in free-ranging and captive cervid populations. Combined use of blood-based assays with skin testing will require further understanding of the effect of skin testing on the accuracy of blood based assays. Models of experimental infection of cattle have allowed for increased understanding of natural disease pathogenesis. Differences likely exist; however, between cattle and deer in both disease distribution and primary route of inoculation in naturally infected animals.