Long-term evaluation and physical and mental effects of residual tinnitus following treatment of sudden hearing loss / 中华耳鼻咽喉头颈外科杂志

Objective: To clarify the long-term characteristics of tinnitus following treatment of sudden deafness and its long-term physical and mental effects on patients. Methods: A retrospective analysis was performed on 88 patients (46 males and 42 females; Age from 11 to 89 years) with sudden deafness treated in Department of Otoscope Surgery of Peoples's Libration Army General Hospital in Beijing from April 2020 to January 2021, and the occurrence of tinnitus and treatment effect of all patients were analyzed. Follow-up was conducted for patients with residual tinnitus after treatment for more than 1 year by the investigation and filling in the survey information collection form, Tinnitus Evaluation Questionnaire (TEQ) and Tinnitus Handicap Inventory (THI). Descriptive statistics and SPSS 22.0 software were used for statistical data analysis. Results: In this study, 93.2% (82/88) of patients with sudden deafness were accompanied by tinnitus at the onset, and the proportion of long-term tinnitus after treatment was 90.2% (74/82). After 1 year of treatment for sudden deafness, the improvement of tinnitus was significant in low-frequency sudden deafness compared with those of high-frequency, flat and total deafness sudden deafness (χ2 value was 6.801, 4.568 and 4.038, all P<0.05). In patients with residual tinnitus, 9 (12.2%) patients felt minimal loudness or even no loudness, 34 (46.0%) patients felt slight loudness, 28 (37.8%) patients felt tinnitus was relatively loud, and 3 (4.1%) patients felt tinnitus was loud or noisy. Nine (12.2%) patients's sleep was often affected, 41 (55.4%) patients's sleep was sometimes affected, 9 (12.2%) patients's sleep was rarely affected, 15 (20.3%) patients's sleep was almost not affected. Twenty-eight (37.8%) patients basically completely adapted to tinnitus and 46 (62.2%) patients did not completely adapted to residual tinnitus. Eight (10.8%) patients had no impact on life, 39 (52.7%) patients had slight impact, 22 (29.7%) patients had moderate impact, and the other 5 (6.8%) patients had greater impact. According to tinnitus evaluation questionnaire(TEQ), there were 12 cases (16.2%) of grade Ⅰ, 26 cases (35.1%) of grade Ⅱ, 28 cases (37.8%) of grade Ⅲ, 7 cases (9.5%) of grade Ⅳ and 1 case (1.4%) of grade Ⅴ. According to tinnitus handicap inventory(THI), tinnitus disability was classified into grade Ⅰ, 22 cases (29.7%), grade Ⅱ, 14 cases (18.9%), Grade Ⅲ, 27 cases (36.5%) and grade Ⅳ, 11 cases (14.9%). Conclusion: The rate of residual tinnitus following treatment of sudden deafness is high. Some of the patients can completely adapt residual tinnitus after one year, but some of them will be affected when sleep, work and study. Residual tinnitus can lead to tinnitus disability in different degrees.

Dificuldades de profissionais na atenção à saúde da pessoa com surdez severa / Professional difficulties in health care of patients with severe deafness / Dificultades profesionales en la atención en salud a la persona con sordera severa

Objetivo: Investigar as dificuldades de profissionais da saúde para a realização da consulta com a pessoa com surdez severa. Materiais e métodos: Estudo transversal, descritivo e qualitativo, realizado em março de 2011, na rede de atenção primária em saúde de Campina Grande - Paraíba. Utilizou-se um questionário estruturado, e 89 profissionais da saúde da Estratégia de Saúde da Família responderam sobre dificuldades para a consulta ao surdo. As respostas foram categorizadas por meio de Análise de Conteúdo na Modalidade Temática. Resultados: Dentre as dificuldades, destacaram-se: comunicação prejudicada, déficit na formação de recursos humanos para a consulta e reconhecimento das necessidades de saúde, infraestrutura inadequada para acolhimento e atendimento ao surdo, incerteza com relação aos cuidados em saúde prescritos na consulta e prejuízo da au tonomia do paciente. Conclusão: Percebeu-se que a comunicação prejudicada constitui uma barreira para a promoção de saúde e que profissionais e unidades de saúde não estão capacitados para acolher e atender às necessidades de saúde da pessoa com surdez severa.

Objective: To investigate the difficulties for health care professionals when dealing with patients with severe deafness in a medical appointment. Method: This is a cross-sectional, descriptive and qualitative study conducted in March 2011 in the Primary Health Care Network of Campina Grande - Paraíba. We used a structured questionnaire completed by 89 health professionals working in the Health Family Strategy. They were asked about the difficulties when dealing with deaf patients in a medical appointment. Their answers were categorized by means of a Thematic Content Analysis. Results: Among the main difficulties we find: impaired communication, a lack of trained human resources for these appointments and an insufficient recognition of these health needs, inappropriate infrastructure for deaf patient reception and care provision, uncertainty regarding the quality of the care provided at the medical appointment and the patient's lack of autonomy. Conclusions: We found that an impaired communication is a barrier to health promotion and that both health professionals and health units are not able to receive and meet the health needs of a patient with severe deafness.

Objetivo: Investigar las dificultades de los profesionales de salud para la realización de la consulta con la persona con sordera severa. Materiales y métodos: Estudio transversal, descriptivo y cualitativo, realizado en marzo de 2011, en la red de atención primaria de salud de Campina Grande - Paraíba. Se utilizó un cuestionario estructu rado, y 89 profesionales de salud de la Estrategia de Salud de la Familia respondieron sobre las dificultades para la consulta con el sordo. Las respuestas fueron categorizadas a través del Análisis de Contenido en la Modalidad Temática. Resultados: Entre las dificultades, se destacaron: comunicación perjudicada, déficit en la formación de recursos humanos para la consulta y reconocimiento de las necesidades de salud, infraestructura inadecuada para acoger y atender al sordo, incertidumbre con respecto a la atención sanitaria prescrita en la consulta y per juicio de la autonomía del paciente. Conclusiones: Se observó que el déficit en la comunicación constituye una barrera para la promoción de la salud y que profesionales y unidades de salud no están cualificados para acoger y atender a las necesidades de salud de la persona con sordera severa.

Adult presentation of Bartter syndrome type IV with erythrocytosis / Apresentação tardia de síndrome de Bartter tipo IV com eritrocitose

Abstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.

Resumo A síndrome de Bartter compreende um grupo raro de doenças autossômicas recessivas perdedoras de sal, decorrentes de mutações em genes expressos na porção ascendente espessa da alça de Henle, com fenótipos distintos, porém fisiopatogenia única, que consiste em redução severa da reabsorção de sódio, e aumento da excreção urinária de hidrogênio e potássio, levando à alcalose hipocalêmica. A síndrome de Bartter tipo IV, causada por mutações com perda de função da bartina, uma subunidade do canal de cloro CLC-Kb expressa no rim e ouvido interno, geralmente se apresenta nos períodos ante e neonatal. No presente relato, descreve-se um caso não usual de síndrome de Bartter tipo IV com apresentação tardia e fenótipo atenuado, diagnosticado por análise molecular, em um homem adulto de 20 anos que se apresentava com hipocalemia, surdez, hiperparatireoidismo secundário e eritrocitose.

Comparison of head and shoulder posture in blind, deaf and ordinary pupils

Proprioceptive, vestibular and visual senses control human movements. This study was carried out to compare the posture of head and shoulder in blind, deaf and ordinary pupils. This descriptive and analytic study was done on 16 blind, 30 deaf and 60 ordinary pupils in Ardabil city, Noth-west of Iran. Sagital and frontal planes Photos for each child was used for determination of head and shoulder deviation. Forward head in blind group significantly was lower than deaf and ordinary pupils [P<0.05]. Rounded shoulder in blind and deaf pupils significantly was lower than ordinary pupils [P<0.05]. Uneven shoulders in deaf pupils significantly was lower than ordinary and blind children [P<0.05]. Lateral flexion of the head in blind and deaf pupiles significantly was higher than ordinary children [P<0.05]. There is a relationship between sensory impairment and postural problems paticularly in blindness Pupils

Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26

Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to our clinic with diffuse hyperkeratosis of the palms and soles (May 3, 2007). Skin biopsies from the soles of both patients demonstrated histopathological evidence of palmoplantar keratoderma. The patient and a number of her maternal family members also had congenital hearing loss. The combination of congenital hearing loss and palmoplantar keratoderma, inherited as an autosomal dominant trait, led us to test for a mutation in the GJB2 gene in both patients. The results showed the R75W mutation of the GJB2 gene in both. In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma. To the best of our knowledge, this is the first report of a GJB2 mutation associated with syndromic autosomal dominant hearing loss and palmoplantar keratoderma in a Korean family.

Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10 / Pseudo-obstrução intestinal em paciente com diabetes mitocondrial que apresentou boa resposta ao tratamento adjunto com coenzima Q10

Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243. This subtype of diabetes is characterized by maternal transmission, young age at onset and bilateral hearing impairment. Besides diabetes and deafness, the main diagnostic features, a wide range of multisystemic symptoms may be associated with the A3243G mutation. Organs that are most metabolically active, such as muscles, myocardium, retina, cochlea, kidney and brain are frequently affected. Gastrointestinal tract symptoms are also common in patients with mitochondrial disease and constipation and diarrhea are the most frequent manifestations. However, there are few prior reports of intestinal pseudo obstruction in MIDD patients. Here we report the case of a patient with MIDD associated with the mtDNA A3243G mutation who developed chronic intestinal pseudo obstruction, and the introduction of Coenzyme Q10 as adjunctive therapy led to a solution of the pseudo obstruction.

Diabetes mitocondrial ou diabetes e surdez de herança maternal (MIDD, acrônimo de maternally inherited diabetes and deafness) é freqüentemente associado à mutação mitocondrial A3243G. Esse subtipo de diabetes é caracterizado por transmissão materna, disacusia neuro-sensorial bilateral e idade precoce de aparecimento. Além do diabetes e da surdez, principais características diagnósticas, outros sintomas em diferentes órgãos podem também associar-se à mutação A3243G. Os órgãos que são metabolicamente mais ativos, tais como músculos, miocárdio, retina, cóclea, rim e cérebro, são freqüentemente afetados. Sintomas do trato gastrintestinal também são comuns em pacientes com doença mitocondrial, sendo diarréia e obstipação as manifestações mais freqüentes. Entretanto, há poucos relatos de pseudo-obstrução intestinal em portadores de diabetes mitocondrial. Este relato descreve o caso de uma paciente com diabetes mitocondrial que apresentou pseudo-obstrução intestinal e que com a introdução de coenzima Q10, como terapia adjunta, teve resolução o quadro.

Branchio-oto-renal syndrome.

Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed agenesis of the left kidney.

Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness.

The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.

Prevalence of skin diseases among students with disabilities in Mansoura, Egypt

Children with disabilities may be particularly susceptible to skin disorders, therefore the aim of this study was to estimate the prevalence of skin disease among such children in Mansoura, Egypt. A total of 636 students with disabilities [76 blind, 446 deaf-mute and 114 mentally retarded] and 720 sex and age matched students [control] who did not have these disabilities were given a thorough dermatological examination. We found 89.5% of blind students, 99.3% of deaf students and 100% of mentally retarded students had 1 or more skin diseases [both infectious and non-infectious] in comparison to 24.2% of the control group. Strict hygienic measures, periodic skin examination and health education of persons caring for students with disabilities are recommended

Estratégias utilizadas por deficientes auditivos oralizados na definiçäo de vocábulos / Strategies used in vocable definitions by hearing impaired individuals

O objetivo deste estudo foi, a partir da definiçöes de vocábulos elaboradas por indivíduos deficientes auditivos oralizados, analisar o predomínio de respostas quanto ao tipo, a ocorrência das estratégias nas definiçöes dos vocábulos, e a ocorrência das estratégiasnas definiçöes dos vocábulos, e a ocorrência das diferentes estratégias utilizadas na definiçäo de cada vocábulo. A amostra foi constituída por dois grupos. Um grupo controle, composto por 22 indivíduos, com idades entre 9 e 26 anos, sendo 11 de cada sexo, sem queixas fonoaudiológicas, e por um grupo experimental, composto por 33 indivíduos, sendo 16 do sexo masculino e 17 do sexo feminino, com faixa etária entre 9 e 26 anos, todos portadores de deficiência auditiva neurossensorial de grau moderamente severo a profundo, bilateral, congênita ou adquirida até o final do primeiro ano de vida...

Síndrome Q-T prolongado idiopático asociado a sordera:(jervell y lange nielsen): reporte de un caso / Idiopatic long QT syndrome associated to deafnness (jervell and lange nielsen): one case report

A un niño de 11 años de edad, sordomudo. con retardo en el desarrollo psicomotor y antecedentes de cuadros sincopales, se analizaron los hallazgos cardiológicos, neurológicos y los resultados de R.X de tórax, Eco-Doppler. ergometría, Electrocardiograma de reposo, ECG ambulatorio de 24 horas y laboratorio (Ca++, K+ y MG++). Los resultados fueron normales a excepción del electrocardiograma que siempre mostró ondas T prominentes, de lenta inscripción y alternantes, alargamiento de QT (QTU) durante el ritmo sinusal; las maniobras vagales producían variaciones en la amplitud de la onda T, prolongación del intervalo QT; no apariencían taquiarritmias ventriculares. Los potenciales evocados auditivos revelaron sordera. Taquicardia ventricular tipo torsada en la punta solo apareció con la administración de epinefrina y fué rápidamente terminada con estimulación eléctrica ventricular. El paciente se mantiene asintomático con la administración de propranolol, el caso en referencia es un síndrome de QT alargado, ídiopático, adrenérgico-dependiente con sordera congénita. El tratamiento de elección es con beta-bloqueantes. Una alternativa en el tratamiento es la estimulación eléctrica tanto ventricular como auricular

Short syndrome: report on a Brazilian girl with a deafness, gastroesophageal reflux and post-natal growth retardation

We report on a Brazilian girl with the clinical signs of SHORT syndrome. She also presented gastroesophageal reflux and evident post-natal growth retardation. The normal neuropsychological development and severe sensorineural deafness found are clearly signs of the SHORT syndrome. Clinical and genetic aspects are discussed.

Prevalence of dental caries in handicapped children of Calcutta.

A total of 1042, 3-14-year-old children with different types of handicapping conditions when recorded for dental caries using WHO 1987 caries recording index revealed that dental caries experience was higher in handicapped children than normal children. The prevalence of dental caries was highest in mentally retarded children followed by cerebral palsied, blind, epileptic, physically handicapped, children with Down's syndrome and deaf and dumb. Higher deft+DMFT was recorded in mandibular teeth compared to maxillary teeth.

Vasculite isolada do sistema nervoso central e acometimento do 8§ nervo craniano: manifestaçöes raras da síndrome de imunodeficiência adquirida / Isolated vasculitis of the central nervous system and involvement of the 8th cranial nerve: rare manifestations of acquired immunodeficiency syndrome

O objetivo de nosso estudo é enfatizar a exuberante anarquia dos mecanismos imunológicos na síndrome de imunodeficiência adquirida. Tal anarquia propicia a de eclosäo de manifestaçöes clínicas atípicas e, por vezes bizarras, de difícil diagnóstico. No estudo em questäo, chamamos a atençäo para duas raras manifestaçöes da doença: vasculite isolada do sistema nervoso central (SNC) e acometimento do VIII nervo craniano, que exigem amplo diagnóstico diferencial, o que significa dizer intervençäo de especialistas de diversas áreas . Após revisäo da literatura, identificamos apenas dois casos de vasculite isolada do SNC induzida pelo vírus da imunodeficiência humana e um caso de surdez neurossensorial; comprovadamente ocasionada pelo retrovírus mencionado. Em passado longínquo, os médicos de boa formaçäo clínica diziam ser necessário raciocinar <> e hoje, diante de doença täo complexa e multissistêmica, nos parece necessário raciocinar <>

Bilateral inverse Duane's retraction syndrome--a case report.

Duane's retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome. Inverse Duane's retraction syndrome is a condition with reverse clinical features. Abduction of the affected eye is possible to some extent and is accompanied by retraction of the eyeball, narrowing of the palpebral fissure and pseudoptosis. There may be some restriction of movement on adduction. The primary lesion is suspected to be in the medial rectus muscle. Frequently the muscle is found to be entrapped following trauma to the medial wall of the orbit. A case of bilateral inverse Duane's retraction syndrome and convergent squint along with left-sided perceptive deafness is reported. As is usually the case there was no structural abnormality or entrapment of the muscle from trauma.

Deafness in children--an analysis.

This study was conducted at the Government Deaf and Dumb School, Thanjavur to ascertain the possible etiological factors. The social outlook of the parents of these children was analysed. Boys were more often affected (60.2%). Consanguinity was observed in 65.4% parents; 23.1% had one or more affected sibling and 14.1% had affected relatives. Parents detected the hearing disability in their children between 3-6 months of age in about 79% cases. Syphilis and chickenpox were the common antenatal associated infections. Streptomycin, chloroquine and abortificients were used during early pregnancy. Eight were preterm and 9 were asphyxiated at birth. A total of 11.5% had purulent ear discharge, and 2 had ear injury. Parents were committed to help the children to be self dependent.