Hair cross-sectioning in uncombable hair syndrome: An epoxy embedding technique.

Uncombable hair syndrome is a rare disorder of the hair shaft that leads to silvery and unruly hair. The hair shaft anomaly is characterized by a longitudinal groove that is detected by scanning electronic microscopy-considered to be the gold standard for diagnosis. Recently, hair cross-sectioning has been reported as a viable alternative, but currently available methods still have some flaws, especially because of hair samples' processing specificities. Here, we present two cases of uncombable hair syndrome and a new embedding technique using epoxy to perform the diagnosis.

Autogenous Bone Graft Versus Bovine Bone Graft in Association With Platelet-Rich Plasma for the Reconstruction of Alveolar Clefts: A Pilot Study.

OBJECTIVE: To compare the outcomes of 2 different bone graft materials: autogenous bone grafts from mandibular symphysis and bovine bone grafts associated with platelet-rich plasma (PRP). METHODS: Twenty individuals met the inclusion criteria and accepted to participate in the study. Group A patients underwent alveolar bone grafting using autologous bone and group B patients using a bovine bone graft associated with PRP. Cone beam computed tomography scans were taken and reconstructed 3-dimensionally for all patients preoperatively and 1 year postoperatively. RESULTS: A significant reduction was detected for area and volume within group A and group B. Between groups, no significant difference was found for area or volume. CONCLUSIONS: Bovine grafts associated with PRP are a good option for the reconstruction of alveolar clefts and provide good results such as autologous bone grafts.

Araucaria angustifolia chloroplast genome sequence and its relation to other Araucariaceae.

Araucaria angustifolia is endemic to southern Brazil. Known as Brazilian pine, A. angustifolia is the only native conifer species with economic and social relevance in this country. Due to massive exploitation, it has suffered a significant population decline and currently is classified as critically endangered. This encouraged the scientific community to investigate genetic features in Brazilian pine to increase resources for management and preservation. In this work, RNA-Seq data was used to determine the complete nucleotide sequence of the A. angustifolia chloroplast genome (cpDNA). The cpDNA is 146,203 bp in length and contains 122 genes, including 80 protein-coding genes, 5 ribosomal RNA genes, and 37 tRNA genes. Coding regions comprise 45.02%, 4.96% correspond to rRNAs and tRNAs, and 50.02% of the genome encompasses non-coding regions. Genes found in the inverted repeat (IR) are present as single copy, with exception of the rrn5 and trnI-CAU loci. The typical LSC, SSC, IRa and IRb organization reported in several land-plant groups is not present in A. angustifolia cpDNA. Phylogenetic analyses using Bayesian and Maximum Likelihood methods clustered A. angustifolia in the Araucariaceae family, with A. heterophylla and A. columnaris as congeneric species. The screening of A. angustifolia cpDNA reveled 100 SSRs, 14 of them corresponding to tetrapolymer loci.

The role of adjuvant treatment in early-stage oral cavity squamous cell carcinoma: An international collaborative study.

BACKGROUND: Up to half of patients with oral cavity squamous cell carcinoma (OCSCC) have stage I to II disease. When adequate resection is attained, no further treatment is needed; however, re-resection or radiotherapy may be indicated for patients with positive or close margins. This multicenter study evaluated the outcomes and role of adjuvant treatment in patients with stage I to II OCSCC. METHODS: Overall survival (OS), disease-specific survival, local-free survival, and disease-free survival rates were calculated with Kaplan-Meier analysis. RESULTS: Of 1257 patients with T1-2N0M0 disease, 33 (2.6%) had positive margins, and 205 (16.3%) had close margins. The 5-year OS rate was 80% for patients with clear margins, 52% for patients with close margins, and 63% for patients with positive margins (P < .0001). In a multivariate analysis, age, depth of invasion, and margins were independent predictors of outcome. Close margins were associated with a >2-fold increase in the risk of recurrence (P < .0001). The multivariate analysis revealed that adjuvant treatment significantly improved the outcomes of patients with close/positive margins (P = .002 to .03). CONCLUSIONS: Patients with stage I to II OCSCC and positive/close margins have poor long-term outcomes. For this population, adjuvant treatment may be associated with improved survival. Cancer 2018;124:2948-55. © 2018 American Cancer Society.

Influence of dual-task constraints on the interaction between posture and movement during a lower limb pointing task.

One of the challenges regarding human motor control is making the movement fluid and at a limited cognitive cost. The coordination between posture and movement is a necessary requirement to perform daily life tasks. The present experiment investigated this interaction in 20 adult men, aged 18-30 years. The cognitive costs associated to postural and movement control when kicking towards a target was estimated using a dual-task paradigm (secondary auditory task). Results showed that addition of the attentional demanding cognitive task yielded a decreased kicking accuracy and an increased timing to perform the movement, mainly during the backswing motion. In addition, significant differences between conditions were found for COP and COM displacement (increased amplitude, mean speed) on the anteroposterior axis. However, no significant differences between conditions were found on the mediolateral axis. Finally, EMG analysis showed that dual-task condition modified the way anticipatory postural adjustments (APAs) were generated. More specifically, we observed an increase of the peroneus longus activity, whereas the temporal EMG showed a decrease of its latency with respect to movement onset. These results suggested a functional adaptation resulting in an invariance of overall APAs, emphasizing that cognitive, postural, and motor processes worked dependently.

Annular elastolytic giant cell granuloma: a "visible" diagnosis.

Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin disease of undetermined cause, characterized by annular plaques with raised erythematous borders in sun-exposed skin. The typical histologic features are dermal infiltration by multinucleated giant cells, elastin degeneration, and elastophagocytosis. The authors describe a clinical case of AEGCG, which exhibited an excellent response to hydroxycloroquine.

The effect of Global Postural Reeducation on body weight distribution in sitting posture and on musculoskeletal pain. A pilot study.

OBJECTIVE: To quantify body weight distribution (BWD) in seated posture with an office chair instrumented with load cells and to evaluate the effects of ergonomic advice and Global Postural Reeducation (GPR) on seated BWD and on musculoskeletal pain. METHODS: Nineteen healthy females were randomly assigned: nine to the experimental group and 10 to the control group. Control group (CG) received only ergonomic verbal advice (EVA) regarding BWD in a seated position. Experimental group (EG) also received EVA and furthermore attended eight GPR sessions. Difference in the effects of the different therapeutic approaches was investigated using the non-parametric Wilcoxon-Mann-Whitney test. RESULTS: After treatments, there was no significant difference between the two groups as regards seated BWD. EG improved musculoskeletal pain significantly more than CG (p<0.005). Instead, musculoskeletal pain frequency decreased (p<0.005) only in EG (after EVA and GPR sessions), in neck, cervical, thoracic, lumbar, shoulders and wrists areas. CONCLUSIONS: Despite both interventions did not induce any significant improvement on seated BWD, adding GPR to EVA was related to a better reduction on musculoskeletal pain in young health females.

Molecular Identification and Traceability of Illegal Trading in Lignobrycon myersi (Teleostei: Characiformes), a Threatened Brazilian Fish Species, Using DNA Barcode.

Lignobrycon myersi is a threatened freshwater fish species and endemic of a few coastal rivers in northeastern Brazil. Even though the Brazilian laws prohibit the fisheries of threatened species, L. myersi is occasionally found in street markets, being highly appreciated by local population. In order to provide a reliable DNA barcode dataset for L. myersi, we compared mitochondrial sequences of cytochrome c oxidase subunit I (COI) from fresh, frozen, and salt-preserved specimens. Phylogenetically related species (Triportheus spp.) and other fish species (Astyanax fasciatus) commonly mixed with L. myersi in street markets were also included to test the efficiency of molecular identification. In spite of the differences in conservation processes and advanced deterioration of some commercial samples, high-quality COI sequences were obtained and effective in discriminating L. myersi specimens. In addition, while populations from Contas and Almada River basins seem to comprise a single evolutionary lineage, the specimens from Cachoeira River were genetically differentiated, indicating population structuring. Therefore, DNA barcoding has proved to be useful to trace the illegal trading of L. myersi and to manage threatened populations, which should focus on conservation of distinct genetic stocks and mitigation on human impacts along their range.

Mercury concentrations in eggshells of the Southern Ground-Hornbill (Bucorvus leadbeateri) and Wattled Crane (Bugeranus carunculatus) in South Africa.

In this study, wild hatched eggshells were collected from the nests of threatened Wattled Crane and South Ground-Hornbill in an attempt to determine their total Hg concentrations. A total of fourteen eggshell samples from both bird species were collected from different study areas in the Mpumlanga and KwaZulu-Natal Provinces of South Africa. The eggshells were acid digested under reflux and their total Hg concentrations were determined using cold-vapour atomic absorption spectrophotometry (CV-AAS). The observed total Hg levels for the South Ground-Hornbill samples ranged from 1.31 to 8.88 µg g(-1) dry weight (dw), except for one outlier which had an elevated 75.0 µg g(-1) dw. The levels obtained for the Wattled Crane samples were relatively high and these ranged from 14.84 to 36.37 µg g(-1) dw. Generally, all the measured total Hg concentrations for the Wattled Crane samples exceeded the estimated total Hg levels derived for eggshell which were known to cause adverse reproductive effects in avian species from previous studies. Based on these findings, it is, therefore, possible that the exposure of these birds to elevated Hg may have contributed to their present population decline.

The prognosis of N2b and N2c lymph node disease in oral squamous cell carcinoma is determined by the number of metastatic lymph nodes rather than laterality: evidence to support a revision of the American Joint Committee on Cancer staging system.

BACKGROUND: A study was conducted to assess for prognostic heterogeneity within the N2b and N2c classifications for oral cancer based on the number of metastatic lymph nodes and to determine whether laterality of neck disease provides additional prognostic information. METHODS: An international multicenter study of 3704 patients with oral cancer undergoing surgery with curative intent was performed. The endpoints of interest were disease-specific survival and overall survival. Model fit was assessed by the Akaike Information Criterion and comparison of models with and without the covariate of interest using a likelihood ratio test. RESULTS: The median number of metastatic lymph nodes was significantly higher in patients with N2c disease compared to those with N2b disease (P < .001). In multivariable analyses stratified by study center, the addition of the number of metastatic lymph nodes improved model fit beyond existing N classification. Next, the authors confirmed significant heterogeneity in prognosis based on the number of metastatic lymph nodes (≤ 2, 3-4, and ≥ 5) in patients with both N2b and N2c disease (P < .001). A proposed reclassification combining N2b and N2c disease based on the number of metastatic lymph nodes demonstrated significant improvement in prognostic accuracy compared with the American Joint Committee on Cancer staging system, and no improvement was noted with the addition of a covariate for contralateral or bilateral neck disease (P = .472). CONCLUSIONS: The prognosis of patients with oral cancer with N2b and N2c disease appears to be similar after adequate adjustment for the burden of lymph node metastases, irrespective of laterality. Based on this finding, the authors propose a modified lymph node staging system that requires external validation before implementation in clinical practice.

Genetic identification of bucktooth parrotfish Sparisoma radians (Valenciennes, 1840) (Labridae, Scarinae) by chromosomal and molecular markers.

Parrotfishes (Labridae, Scarinae) comprise a large marine fish group of difficult identification, particularly during juvenile phase when the typical morphology and coloration of adults are absent. Therefore, the goal of this study was to test cytogenetic markers and DNA barcoding in the identification of bucktooth parrtotfish Sparisoma radians from the northeastern coast of Brazil. Sequencing of cytochrome c oxidase subunit I (COI) confirmed all studied samples as S. radians, and all showed high similarity (99-100%) with Caribbean populations. The karyotype of this species was divergent from most marine Perciformes, being composed of 2n = 46 chromosomes. These consisted of a large number of metacentric and submetacentric pairs with small amounts of heterochromatin and GC-rich single nucleolar organizer regions (NORs) not syntenic to 5S rDNA clusters. These are the first data about DNA barcoding in parrotfish from the Brazilian province and the first refined chromosomal analysis in Scarinae, providing useful data to a reliable genetic identification of S. radians.

ACTH-producing adrenocortical carcinoma: an exceedingly rare diagnosis.

BACKGROUND: Adrenocortical carcinoma is a very rare endocrinopathy that has a poor prognosis and is frequently associated with ACTH-independent Cushing's syndrome. Despite having an adrenocortical carcinoma, our patient surprisingly had an ACTH-dependent Cushing's syndrome. CASE REPORT: A 26-year-old female presented with Cushing's syndrome and an abdominal mass. Imaging studies revealed an adrenal mass consistent with a high-grade malignancy. Laboratory workup showed hypercortisolism, hyperandrogenism, and hypokalemia with normal levels of metanephrines. Unexpectedly, her ACTH levels were remarkably elevated. The pathological analysis of a tumor sample was conclusive for adrenocortical carcinoma with immunopositivity for ACTH. CONCLUSIONS: Our patient suffered from an adrenocortical carcinoma that was ectopically producing ACTH. This case emphasizes that physicians should have a broad-minded approach when evaluating cases of rare endocrine malignancies.

Comparison of Cytological Adequacy between 23- and 25-Gauge in Ultrasound-Guided Fine-Needle Aspiration of Thyroid Nodules: A Single-Center Prospective Study.

INTRODUCTION: Approximately 15% of fine-needle aspiration (FNA) of thyroid nodules are considered nondiagnostic. Several factors are potentially involved, including clinical and nodule features but also the gauge (G) of the needle used. However, few studies have compared the cytological adequacy obtained with different gauge needles and the data are controversial. We aimed to evaluate cytological adequacy results using 23- or 25-G needles. METHODS: This study is an observational and prospective study of thyroid nodules submitted to ultrasound-guided FNA. The procedure was performed randomly using 23- or 25-G needles. The samples were reported by different cytopathologists who were blinded to the information of the gauge of the needle used. Statistical analysis was performed to compare cytological adequacy of FNA between the two groups. RESULTS: A total of 177 thyroid nodules were included - 98 (55.4%) using 23-G and 79 (44.6%) using 25-G needles. The 23-G group presented a higher rate of cytological adequacy (69.4% [68/98] vs. 46.8% [37/79], p = 0.002). No differences were found between the two groups regarding patient or nodule characteristics. On logistic regression, 23-G needles correlated with better cytological adequacy (unadjusted OR 2.57 [95% CI: 1.39-4.77]), even after adjusting for nodule dimension, location, and type of cytology (slides +/- additional liquid-based cytology) (adjusted OR 2.44 [95% CI: 1.23-4.84]). CONCLUSION: The gauge of the needle used was found to be an independent predictor of cytological adequacy, with 23-G needles providing more adequate samples. Further investigation is needed to confirm our results in order to stablish the optimal diagnosis technique.

[Paul Deshayes (1796-1875) and the Geological Commission of the Kingdom: a collaboration with the Portuguese state]. / Paul Deshayes (1796-1875) e a Comissão Geológica do Reino: uma colaboração com o Estado português.

Carlos Ribeiro, one of the directors of the Geological Commission of Portugal, voyaged in 1858 to many countries of Europe to acquire publications, equipment and comparator collections. In Paris he met Paul Deshayes, a well-known conchologist, who gave him access to his personal collections of Tertiary deposits from France and helped him to classify Portuguese fossils. The outcome of the joint work can be seen in the Ribeiro List, which is preserved in the historic archives of the National Energy and Geology Laboratory (Alfragide, Portugal). These classifications served as a basis for a monograph published by Pereira da Costa, Ribeiro's colleague on the Geological Commission, and the definition of the stratigraphy of Portugal's Tertiary deposits.

Metastatic Myoepithelial Carcinoma Ex Pleomorphic Adenoma of the Sublingual Salivary Gland.

Myoepithelial carcinoma ex pleomorphic adenoma is a very rare malignant neoplasm of the salivary gland. Owing to its rarity, its clinical features and treatment are not well characterized. We describe a case of a patient who was referred to our department with a six-month history of a bulge on the right side of the floor of the mouth and a submandibular mass with progressive enlargement. The mass was resected, and an elective level I neck dissection was performed. Histological examination revealed myoepithelial carcinoma ex pleomorphic adenoma of the sublingual salivary gland. Thoracic computed tomography and biopsy revealed lung metastases. The patient died two years after the diagnosis.

Intrasphenoidal Rathke's Cleft Cyst: An Uncommon Feat.

Usually occurring entirely intrasellarly or extending suprasellarly (intra-suprasellar), Rathke's cleft cysts (RCCs) can present with an intrasphenoidal location. Extrasellar positions are rare. To date, only seven patients with intrasphenoidal RCC have been reported in the literature. Despite the rarity of the condition and the lack of pathognomonic radiological features, preoperative diagnosis remains challenging. A trans-sphenoidal approach can be adopted to treat this type of cyst, which has great clinical relevance. Awareness of this different presentation of RCC before respective management may be of value in its approach. Intrasphenoidal RCC should be diagnosed preoperatively and the surgical approach should be changed accordingly by aspiration and partial removal before the histological examination.

Merkel Cell Carcinoma: An Otolaryngological Point of View of An Unusual Sinonasal Mass.

Merkel cell carcinoma is a pathologic diagnosis mainly observed in sun-exposed cutaneous areas, like the head and neck. Ultraviolet (UV) exposure and immunosuppression are the common predisposing factors. Merkel cell carcinoma of the head and neck is quite an uncommon disease. This case report involves a 56-year-old man who exhibited a skin lesion on the nasal dorsum with a mass in the right maxillary sinus. The biopsies from both sides were diagnostic for Merkel cell carcinoma. The patient underwent endoscopic sinus surgery and removal of the skin lesion with free margins. The patient has been free of disease for the last 20 months now and maintains follow-up with endoscopy and imaging in the Ear Nose Throat office. Only a few cases of Merkel cell carcinoma of the nasal mucosa have been reported in the literature. We report our approach and management of this rare pathologic presentation.

Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives.

In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susceptibility to cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma (RCC). Hereditary leiomyomatosis and renal cell cancer (HLRCC) is now linked to a germline mutation in the fumarate hydratase (FH) gene that encodes a Krebs cycle enzyme, transforming fumarate to malate. The accumulation of fumarate, an oncometabolite, promotes tumorigenesis. We present a case of a 41-year-old female diagnosed with HLRCC after a radical nephrectomy due to renal cell cancer. Genetic analyses confirmed a novel FH mutation. Close follow-up allowed for a precocious diagnosis of a metachronous renal tumor and later a hepatic metastasis. Her family was also counseled and offered genetic testing. As observed in this case, the diagnosis of HLRCC is of paramount importance for patients and their families: there is a 15% cumulative lifetime risk of developing RCC, which frequently occurs in young patients and metastasizes at an early stage. Implementing a regular follow-up with adequate imaging examinations may help save lives.