Bamboo Nodes as an Autoimmune Disease Laryngeal Manifestation. Case Series.

INTRODUCTION: Bamboo nodes are transverse creamy-yellow subepithelial nodes in the vocal folds (VF) midpoint, usually bilateral, resembling a bamboo stem. They appear almost exclusively in females, and are associated with underlying autoimmune diseases. CASE SUMMARY: Six female patients, 45.5 years median age, with underlying autoimmune diseases, consulted due to dysphonia. The laryngeal stroboscopy showed bilateral VF bamboo nodes in four patients, and unilateral in the remaining two. VF mobility was normal in all patients, while the mucosal wave was impaired in four of them. Treatment with speech therapy and proton pump inhibitors was indicated. All the patients were referred for rheumatologic evaluation and immunosuppressive treatment optimization. Follow-up in five patients showed vocal function self-perception and GRBAS scores improvement. DISCUSSION: VF bamboo nodes are an infrequent cause for dysphonia, associated with phonotrauma and autoimmune diseases. Speech therapy and a rheumatologic workup must be indicated, for immunosuppressive treatment enhancement.

Management of Contralateral Reactive Vocal Fold Lesions, a Retrospective Study.

OBJECTIVE: To evaluate the anatomical and voice results of conservative management of patients diagnosed with contralateral reactive lesions (CRL) in our voice unit. METHODS: A retrospective chart review was conducted of all new adult patients with benign vocal fold lesions with or without CRL, treated in the voice unit at Universidad Católica Clinical Hospital between 2015 and 2019. Patients were divided into two groups, without CRL (group A) and with CRL (group B). Analysis of preoperative and 1 month after surgery videostroboscopy, GRBASI, Voice Handicap Index-10 (VHI-10), Voice Related Quality of Life (VRQOL) surveys and management of CRL was conducted. RESULTS: A total of 62 patients were included, 45 (72.6%) had CRL. When compared, bivariate and multivariate analysis revealed that age was significantly associated as a mild protective factor of presenting a CRL (P < 0.05). No significative differences were found between preoperative group A and B perceptual voice analysis or voice surveys. In terms of CRL management, 30 (66.6%) were injected, conservative management with observation was performed in 12 patients (26.7%) and, three (6.7%) were surgically resected. After 1 month follow-up, 32 (71.1%) had complete CRL resolution, eight (17.8%) had CRL persistence and, five (11.1%) had CRL recurrence. Postoperative vocal outcomes, GRBASI, VHI-10 and VRQOL showed significative improvement as compared with preoperative data for each group. No differences were seen between group A and B in terms of postoperative vocal outcomes. CONCLUSION: CRL are prevalent, and their management is controversial. On our study 72.6% of BFVL presented with CRL and 93.3% of them were conservatively managed. Improvement in perceptual voice analysis and quality of life surveys were similar in both groups.

Voice Disorders in Children: Experience in the Voice Unit at Universidad Católica Clinical Hospital.

INTRODUCTION: Dysphonia in children is a common symptom, its prevalence varies between 6% and 23%. There is a broad differential diagnosis and the recommendation is to evaluate dysphonic children with an adequate laryngeal visualization method to achieve an accurate diagnosis and treatment. OBJECTIVE: To describe the experience in the diagnosis of dysphonia in children in the voice unit at Universidad Católica Clinical Hospital Santiago, Chile. METHODS AND MATERIALS: A retrospective chart review was conducted of all new pediatric patients treated in the voice unit at Universidad Católica Clinical Hospital between 2012 and 2019. Demographic data, diagnosis, and in-office laryngoscopies were reviewed. All patients were evaluated by the same work team consisting of two Otolaryngologists specialized in vocal pathology and a speech voice therapist. RESULTS: A total of 126 new pediatric patients between the ages of 0 to 18 years were evaluated in the voice unit at Universidad Católica Clinical Hospital Santiago, Chile. The majority were males (54%) with an average age of 9 years. 40% of the diagnosis corresponded to vocal nodules, 26% to vocal cord cysts, the remaining to a group of less frequent diagnosis. Two different groups were studied, the first group evaluated during the years 2012-2015 with flexible fibre-optic laryngoscopy and rigid videolaryngostroboscopy (VLS); the second group evaluated between the years 2015-2019 with distal chip flexible videolaryngoscopy, distal chip flexible VLS and rigid VLS. In the second group, the diagnosis of vocal nodules decreased, and the diagnosis of vocal cord cysts increased in comparison to the first group. CONCLUSION: Pediatric patients with dysphonia must be evaluated by a multidisciplinary team of experts and adequate equipment. VLS should be considered the gold standard in the diagnosis of vocal cord pathology in pediatric population.

The complete mitochondrial genome of the strawberry aphid Chaetosiphon fragaefolii Cockerell, 1901 (Hemiptera: Aphididae) from California, USA.

The aphid Chaetosiphon fragaefolii Cockerell, 1901 is an agricultural pest and known vector of strawberry viruses. To better understand its biology and systematics, we performed a genomic analysis on C. fragaefolii collected from Quinalt strawberry plants from Pacific Grove, Monterey county, California, USA using Oxford Nanopore and Illumina sequencing. The resulting data were used to assemble the aphids complete mitogenome. The mitogenome of C. fragaefolii is 16,108 bp in length and contains 2 rRNA, 13 protein-coding, and 22 tRNA genes (GenBank accession number LC590896). The mitogenome is similar in content and organization to other Aphididae. Phylogenetic analysis of the C. fragaefolii mitogenome resolved it in a fully supported clade in the tribe Macrosiphini. Analysis of the cox1 barcode sequence of C. fragaefolii from California found exact and nearly identical sequences to C. fragaefolii and Chaetosiphon thomasi Hille Ris Lambers, 1953, suggesting the two species are conspecific.

Spasmodic Dysphonia: Standardized Spanish Tool for Ambulatory Consult Diagnosis.

INTRODUCTION: Spasmodic dysphonia (SD) is a focal dystonia of the larynx where involuntary spasms of its intrinsic muscles are triggered by specific phonemes. The diagnosis is challenging and is performed by listening to the patient's voice, supported by nasolaryngoscopy. There is no diagnostic tool in Spanish for SD. The objective of our study is to establish phonetically studied vocal tasks in Spanish language to diagnose patients with SD. MATERIAL AND METHOD: This is a prospective study in three groups of patients: 11 with SD, 11 with another vocal disease, and 11 with no vocal disease, recruited in the Voice Unit of Hospital Clínico Universidad Católica. Of the patients with SD, 10 (90.9%) had adductor SD and 1 (9.1%) abductor SD. Vocal tasks phonetically studied by a speech language pathologist as laryngeal spasm triggers were recorded. The audio recordings were randomized and analyzed by nine evaluators: three experts and six otolaryngology residents. The correlation between the different professionals for the correct diagnosis was analyzed. RESULTS: The audio recordings were analyzed and patients with SD presented irregular voice breaks that occurred during the trigger phonemes. Evaluators classified the audio recordings: the expert group presented 100% sensitivity, 95-100% specificity and individual consistency of κ=0.73-0.82. The interrater agreement was 81.8%. The resident group presented 55-100% sensitivity, 58-95% specificity, and individual consistency of κ=0.36-0.82. The interrater agreement was 67.0%. DISCUSSION AND CONCLUSIONS: We obtained a strong to almost perfect interrater agreement in experts and fair to almost perfect in residents. This study shows that the established list of phonetically studied and standardized words can be a useful tool for the diagnosis of SD.

Prevalence of Voice Disorders in Healthcare Workers in the Universal Masking COVID-19 Era.

OBJECTIVES/HYPOTHESIS: To determine the prevalence and associated risk factors of voice disorders in healthcare workers of high-risk hospital care units during the 2019 coronavirus disease (COVID-19) pandemic. STUDY DESIGN: Cross-sectional study. METHODS: Questionnaire survey to healthcare personnel of COVID-19 high-risk hospital units was conducted, regarding demographic data, clinical activity, the pattern of usage of personal protective equipment, medical and vocal history, vocal symptoms, and Spanish validated Voice Handicap Index (VHI)-10 questionnaire. RESULTS: A total of 221 healthcare workers answered the survey. Nearly 33% of them reported having trouble with their voice during the last month, and 26.24% had an abnormal score in the Spanish validated VHI-10 questionnaire. The mean VHI-10 score was 7.92 (95% confidence interval 6.98-8.85). The number of working hours, the number of hours of mask daily use, simultaneous surgical and self-filtering mask use, and working in intermediate or intensive care units were independent variables significantly associated with a higher VHI-10 score. CONCLUSIONS: Healthcare workers of high-risk hospital care units during the universal masking COVID-19 pandemic are at risk of voice disorders. LEVEL OF EVIDENCE: 3 Laryngoscope, 131:E1227-E1233, 2021.

Algoritmo para el diagnóstico de pacientes con trastornos del neurodesarrollo y sospecha de un síndrome genético / Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome

El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.

The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), Williams-Beuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.

Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome. / Algoritmo para el diagnóstico de pacientes con trastornos del neurodesarrollo y sospecha de un síndrome genético.

The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), WilliamsBeuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.

El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.

The role of vasodilator-stimulated phosphoprotein (VASP) in the control of hepatic gluconeogenic gene expression.

During periods in which glucose absorption from the gastrointestinal (GI) tract is insufficient to meet body requirements, hepatic gluconeogenesis plays a key role to maintain normal blood glucose levels. The current studies investigated the role in this process played by vasodilatory-associated phosphoprotein (VASP), a protein that is phosphorylated in hepatocytes by cAMP/protein kinase A (PKA), a key mediator of the action of glucagon. We report that following stimulation of hepatocytes with 8Br-cAMP, phosphorylation of VASP preceded induction of genes encoding key gluconeogenic enzymes, glucose-6-phosphatase (G6p) and phosphoenolpyruvate carboxykinase (Pck1), and that VASP overexpression enhanced this gene induction. Conversely, hepatocytes from mice lacking VASP (Vasp-/-) displayed blunted induction of gluconeogenic enzymes in response to cAMP, and Vasp-/- mice exhibited both greater fasting hypoglycemia and blunted hepatic gluconeogenic enzyme gene expression in response to fasting in vivo. These effects of VASP deficiency were associated with reduced phosphorylation of both CREB (a key transcription factor for gluconeogenesis that lies downstream of PKA) and histone deacetylase 4 (HDAC4), a combination of effects that inhibit transcription of gluconeogenic genes. These data support a model in which VASP functions as a molecular bridge linking the two key signal transduction pathways governing hepatic gluconeogenic gene expression.

VASP increases hepatic fatty acid oxidation by activating AMPK in mice.

Activation of AMP-activated protein kinase (AMPK) signaling reduces hepatic steatosis and hepatic insulin resistance; however, its regulatory mechanisms are not fully understood. In this study, we sought to determine whether vasodilator-stimulated phosphoprotein (VASP) signaling improves lipid metabolism in the liver and, if so, whether VASP's effects are mediated by AMPK. We show that disruption of VASP results in significant hepatic steatosis as a result of significant impairment of fatty acid oxidation, VLDL-triglyceride (TG) secretion, and AMPK signaling. Overexpression of VASP in hepatocytes increased AMPK phosphorylation and fatty acid oxidation and reduced hepatocyte TG accumulation; however, these responses were suppressed in the presence of an AMPK inhibitor. Restoration of AMPK phosphorylation by administration of 5-aminoimidazole-4-carboxamide riboside in Vasp(-/-) mice reduced hepatic steatosis and normalized fatty acid oxidation and VLDL-TG secretion. Activation of VASP by the phosphodiesterase-5 inhibitor, sildenafil, in db/db mice reduced hepatic steatosis and increased phosphorylated (p-)AMPK and p-acetyl CoA carboxylase. In Vasp(-/-) mice, however, sildendafil treatment did not increase p-AMPK or reduce hepatic TG content. These studies identify a role of VASP to enhance hepatic fatty acid oxidation by activating AMPK and to promote VLDL-TG secretion from the liver.

Hipogammaglobulinemia congénita asociada con trastornos de los granulocitos.: Presentación de un caso / Congenital hypogammaglobulinemia associated with granulocyte disorders.: A case presentation

Se reporta el caso de un niño de 11 meses de edad con historia de sepsis generalizada por Pseudomona aeruginosa a los 5 meses, neutropenia, leucopenia, anemia asociada con la sepsis y desde entonces, infecciones respiratorias agudas recurrentes del tracto respiratorio superior, manifestaciones alérgicas y forunculosis por pseudomona. El estudio inmunológico realizado mostró cifra disminuida de IgG con ligero incremento de IgM y valores normales de IgA y de la población de células B CD19+, así como disminución de la subpoblación de células T cooperadoras CD4+. Se encontró, además, neutropenia y defecto marcado de la fagocitosis. Se estableció el diagnóstico de hipogammaglobulinemia congénita asociada con trastornos de los granulocitos. El paciente recibió tratamiento con gammaglobulina humana por vía intramuscular, factor de transferencia e inmunoferón, con mejoría clínica evidente.

This is the case of a child aged 11 months with a history of systemic sepsis from Pseudomona aeruginosa at 5 months, neutropenia, leucopenia, sepsis-associated anemia and from then, recurrent acute respiratory infections of the high respiratory tract, allergic manifestations and furunculosis from pseudomona. Immunologic study conducted showed a decreased figure of IgG with a light increase of CD4+ cooperative-IgM of T cells. Also, we found the presence of neutropenia and marked defect of phagocytosis. We made the diagnosis of granulocyte-associate congenital hypogammaglobulinemia. The patient was treated with human gamma globulin by intramuscular route, transference factor and immunoferon, with an obvious improvement.

Hipogammaglobulinemia congénita asociada con trastornos de los granulocitos: presentación de un caso / Congenital hypogammaglobulinemia associated with granulocyte disorders: a case presentation

Se reporta el caso de un niño de 11 meses de edad con historia de sepsis generalizada por Pseudomona aeruginosa a los 5 meses, neutropenia, leucopenia, anemia asociada con la sepsis y desde entonces, infecciones respiratorias agudas recurrentes del tracto respiratorio superior, manifestaciones alérgicas y forunculosis por pseudomona. El estudio inmunológico realizado mostró cifra disminuida de IgG con ligero incremento de IgM y valores normales de IgA y de la población de células B CD19+, así como disminución de la subpoblación de células T cooperadoras CD4+. Se encontró, además, neutropenia y defecto marcado de la fagocitosis. Se estableció el diagnóstico de hipogammaglobulinemia congénita asociada con trastornos de los granulocitos. El paciente recibió tratamiento con gammaglobulina humana por vía intramuscular, factor de transferencia e inmunoferón, con mejoría clínica evidente(AU)

This is the case of a child aged 11 months with a history of systemic sepsis from Pseudomona aeruginosa at 5 months, neutropenia, leucopenia, sepsis-associated anemia and from then, recurrent acute respiratory infections of the high respiratory tract, allergic manifestations and furunculosis from pseudomona. Immunologic study conducted showed a decreased figure of IgG with a light increase of CD4+ cooperative-IgM of T cells. Also, we found the presence of neutropenia and marked defect of phagocytosis. We made the diagnosis of granulocyte-associate congenital hypogammaglobulinemia. The patient was treated with human gamma globulin by intramuscular route, transference factor and immunoferon, with an obvious improvement(AU)

Babies of the earthquake : Follow-up study of their first 15 months

This report reviews the phenomenology related to the rescue and later development of the newborn babies buried in the rubble of several collapsed maternity hospitals in México City during the earthquake of september 1985. We describe the rescue process as well as the impact of this process on the community. The rescued babies development has been folowed through the first 15 months of their lives and we describe our observations. We also review the implications of the emotional burdens that these babies may bear and the possible repercussions later in their development(AU)