Evaluación neurológica durante el primer año en niños muy bajo peso al nacer con infección por citomegalovirus / Neurological evaluation during the first year in very low birth weight children with cytomegalovirus infection

Introducción: La infección congénita por citomegalovirus es causa de pérdida auditiva y alteraciones cognitivas. La infección perinatal por este virus es más frecuente en neonatos< 1500 g y produce menos secuelas neurológicas. Objetivo: Describir la evaluación neurológica en el primer año de vida en niños muy bajo peso al nacer con infección por citomegalovirus. Métodos: Estudio descriptivo y longitudinal en el que se incuyeron 14 neonatos< 1500 g, con diagnóstico de infección congénita o perinatal por citomegalovirus; a los cuales se les realizó evaluación del neurodesarrollo, ultrasonido craneal, potenciales evocados auditivos de tallo cerebral y potenciales visuales a las 40 semanas, a los seis meses y al año de edad gestacional corregida. En la primera evaluación se realizó además, electroencefalograma. Resultados: El 43 por ciento tuvo infección congénita y 57 por ciento infección perinatal. A las 40 semanas se evaluaron completamente 79 % de los casos, a los seis meses 64 por ciento y al año 36 por ciento. No se observaron anormalidades en el ultrasonido craneal, ni en el electroencefalograma. Al año de edad corregida, se detectaron alteraciones ligeras del neurodesarrolo en 33,3 por ciento del total de casos (2/6) y con igual porcentaje en los niños con infección congénita (1/3) y perinatal (1/3). En ningún paciente evaluado se detectó sordera neurosensorial, ni daño del nervio visual. Conclusiones: Las alteraciones del neurodesarrollo encontradas al año de edad corregida pueden estar relacionadas con la prematuridad o la infección por citomegalovirus. El seguimiento a mediano y largo plazo es necesario para detectar otras secuelas neurológicas de debut tardío(AU)

Introduction: Congenital cytomegalovirus infection is a cause of hearing loss and cognitive impairments. Perinatal infection by this virus is more frequent in neonates< 1500 g and produces fewer neurological sequelae. Objective: To describe neurological evaluation in the first year of life in very low birth weight children with cytomegalovirus infection. Methods: A descriptive and longitudinal study involving 14 neonates< 1500 g, with a diagnosis of congenital or perinatal cytomegalovirus infection; to which neurodevelopmental evaluation, cranial ultrasound, auditory brain stem evoked potentials and visual potentials were performed at 40 weeks, six months and one year of corrected gestational age. In the first evaluation, electroencephalogram was also performed. Results: 43 percent had congenital infection and 57 percent perinatal infection. At 40 weeks, 79 percent of cases were fully evaluated, at six months 64 percent and at one year 36 percent. No abnormalities were observed on the cranial ultrasound or electroencephalogram. At one year of corrected age, slight alterations in neurodevelopment were detected in 33.3 percent of all cases (2/6) and with the same percentage in children with congenital (1/3) and perinatal (1/3) infection. In no patient evaluated, sensorineural deafness or visual nerve damage was detected. Conclusions: The neurodevelopmental alterations found at one year of corrected age may be related to prematurity or cytomegalovirus infection. Medium- and long-term follow-up is necessary to detect other late-onset neurological sequelae(AU)

Severe polyhydramnios as neonatal presentation of Bartter's syndrome type IV / Polihidrâmnios grave como manifestação neonatal da síndrome de Bartter tipo IV

Abstract Introduction: Bartter's syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter's syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter's syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter's syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.

Resumo Introdução: a síndrome de Bartter inclui um grupo heterogéneo de tubulopatias hereditárias perdedoras de sal. Existem duas formas de apresentação clínica: clássica e neonatal, a forma mais grave. Os tipo I e II representam a maioria dos casos neonatais. Os tipos III e V são geralmente menos graves. Caracteristicamente, a síndrome de Bartter tipo IV é uma nefropatia perdedora de sal com sintomas neonatais ligeiros a graves, com um aspeto especí- fico - surdez neurossensorial. A síndrome de Bartter tipo IV é o tipo menos comum das formas recessivas da doença. Descrição: relatamos o primeiro caso de uma criança portuguesa, com surdez neurossensorial, poliúria, polidipsia e restrição de crescimento, nascida prematuramente devido a polihidrâmnios grave, homozigótica para a mutação G47R do gene BSND, responsável pela síndrome de Bartter tipo IV. Discussão: são raros os casos publicados sobre síndrome de Bartter tipo IV atribuída a esta mutação, e a maioria referem-se a diagnósticos mais tardios, com manifestações clínicas ligeiras. A fraca correlação fenótipo-genótipo combinada com a raridade desta síndrome tornam o diagnóstico pré-natal desafiante. Perante um caso de polihidrâmnios grave em um feto sem malformações aparentes, cariótipo normal e após exclusão de patologia materna, as doenças autossómicas recessivas, incluindo as tubulopatias, devem ser sempre consideradas.

Utility of Hyperbaric Oxygen Therapy for Acute Acoustic Trauma: 20 years' Experience at the Japan Maritime Self-Defense Force Undersea Medical Center

Introduction: Acute acoustic trauma, which is a kind of sensorineural hearing loss, is caused by acoustic overstimulation. Hyperbaric oxygen therapy (HBOT) is reported to be effective against acute acoustic trauma. Objective: We aimed to evaluate the efficacy of HBOT against acoustic hearing loss based on our 20 years of experience with such cases. Methods: Patients who were treated with HBOT for acute acoustic trauma between April 1997 and August 2017 were evaluated in this study. Thirty-five patients with a mean age of 25.7 ± 9.2 (range: 16­48) years were included. Thirty-nine out of 70 ears (35 patients) were damaged. We investigated the initial level of hearing loss; the extent to which hearing recovered; subjective symptoms, such as tinnitus and aural fullness; and the treatment administered. Results: The planned HBOT was completed in 37 of 39 ears. Twenty-six of the 37 ears (70.2%) displayed improved hearing, and 31 of the 37 ears (83.9%) exhibited symptom improvement. Twenty-three (76.7%) and 26 (86.7%) of the 30 ears treated with steroids demonstrated improvements in hearing and subjective symptoms, respectively. Conclusion: A combination of HBOT and steroids should be considered as a treatment for acute acoustic trauma in cases involving symptoms such as tinnitus and aural fullness (AU)

Prevalence and factors influencing sensorineural hearing loss among type II diabetes mellitus patients

Background: The typical hearing loss described among diabetes patients is progressive, bilateral, sensorineural deafness of gradual onset that predominantly affects the higher frequencies. Although there is mounting evidence for a relationship between diabetes and hearing impairment the awareness of auditory organ involvement in the course of diabetes is still not widespread among healthcare providers involved in diabetes care. Objective of present study was to assess the prevalence and the factors influencing sensorineural deafness among the patients with type II diabetes mellitus.Methods: A cross-sectional study was conducted at our hospital for a period of 6 months. All type II diabetes patients without any other major systemic illness (CVA, coronary artery disease, thyroid disorders) were included for the study. A total of 300 patients were included in our study and the informed consent was obtained from all the study participants. A detailed history related to hearing loss and diabetes status was elicited from all the patients. All basic blood investigations along with HbA1c was performed on all the patients. All the patients were subjected to pure tone audiometry and it was performed using a pure tone audiometer model AUL 12096 audiometer of Labat company in a sound proof room.Results: The total prevalence of sensori-neural deafness among the study subjects was found to be 51.3% with majority of them having mild to moderate degree of sensori-neural deafness. Increase in age, female gender, longer duration of diabetes and higher HbA1C levels are the factors which had influenced the state of sensorineural deafness among the study subjects.Conclusions: The use of audiological test at primary care level should be made mandate for screening all the diabetes patients for hearing loss such a way the quality of life can be improved for patients requiring therapeutic interventions for their hearing improvement.

The Rehabilitation Effects of the Cochlear Implantation on Prelingually Deaf Children with Alba Abnormality / 听力学及言语疾病杂志

Objective To study the rehabilitation effects of the cochlear implants on prelingually deaf children with alba abnormality.Methods A retrospective analysis of the effects of CIs was conducted in the prelingually deaf children of 11 cases of the children with abnormal alba(the research group) and 18 cases of the children who had normal alba(the control group) at the First Affiliated Hospital of Fujian medical university.All the operations were completed by the same doctor.There were no obvious complications during and after the operation.The cochlear implants were turned on after one month and the prelingually deaf children with extremely severe bilateral sensorineural deafness were trained for speech at the rehabilitation centre.The assessment criteria of the categories of auditory performance(CAP) and speech intelligibility rate(SIR) were used.After six months and twelve months of the operation, the family members were followed who have direct contacts with the children.The evaluation of data between the research and the control groups was administered.Results In the research group, the average level of CAP after six months'' post-operation was 2.41±0.47.But in the control group, the average level was 3.28±0.45.In the research group, the average level of SIR after six months'' post-operation was 1.27±0.44.There were 3 children in the research group at level 2, but in the control group, the average level was 1.89±0.31.Two children in the control group were level 1 while the others were level 2.In the research group, the average level of CAP after twelve months'' post-operation was 4.00±0.43 while only one child at level 3.There was one child at level 5 in the research group, the rest were level 4.There was a statistically significant difference in the average level of the CAP after six months'' post-operation(t=4.983, P0.05) and in the average level of the SIR after twelve months'' post-operation(t=0.434, P>0.05).Conclusion There is no significant difference of the rehabilitation effects of post-operation between the prelingually deaf children with alba abnormality and those with normal alba.

Advances in the biological restoration of the hearing / 复旦学报（医学版）

Sensorineural deafness is the most common disorders of senses,which severely impact the life quality and bring heavy burden to the family as well as the society.Current state-of-art treatments focus on sound amplification and implanted electrodes that stimulate the auditory nerve.These strategies offer partial recovery of function for a limited patient population but do not come close to restoring natural hearing.Clearly,there is strong need for development of biological treatments for the hearing restoration through correcting the genetic defects or regenerating the new hair cells on the damaged cochlear sensory epithelium.We reviewed the advances in the biological restoration of the hearing,including the gene therapy and the hair cell regeneration aspects.

Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome and mutation anaiysis of GATA3 gene / 中华内分泌代谢杂志

Objective To explore the clinical manifestation of a patient with hypoparathyroidsmsensorineural deafness-renal dysplasia (HDR) syndrome and to sequence the related GATA3 gene of the patient.Methods A 22 year old person with HDR syndrome was reported in regard to clinical manifestation,laboratory examination,and genetic mutation.Some related literatures were reviewed.Results The patient showed tetany,deafness,and positive Chvosteks' and Trousseau' s signs.The initial laboratory studies showed that serum concentration of calcium was lowed and the iPTH level were lower than normal.Binaural pure tone audiometry showed Binaural sensorineural deafness.Colour doppler ultrasound revealed that his right kidney was not observed and the level of creatinine was increased,indicating renal insufficiency.GATA3 mutations on DNA sequence analysis indicated that the 6 exon IVS6-1G-A (G/A heterozygosis splicing),showed the mutation of G to A is in the upstream of the first base in the six exon.After treating with calcium carbonate and vitamin D,the symptoms and signs were improved.Conclusion HDR syndrome is a rare endocrine disease,that should receive more attention in order to avoid missing diagnosis;The IVS6-1G-A as a novel mutation of GATA3 gene,has not been reported so far.

The CerebraI Cortex of CongenitaIIy SensorineuraI Hearing-Impaired Patients with Resting State FunctionaI Magnetic Resonance Imaging / 听力学及言语疾病杂志

Objective The BOLD -fMRI(blood oxygenation level dependent functional magnetic resonance imaging)was used to observe the functional cortical activities of the bilateral cerebral hemispheres in 23 cases of chil_dren with congenital sensorineural hearing loss under resting state ,and to further explore the values of BOLD-fM_RI in patients with sensorineural hearing loss .Methods Twenty three children with congenital sensorineural hearing loss were included in the experimental group and 10 normal heating children were included as cronol group .The ALFF(amplitude of low -frequency fluctuation) method was used to analyze the image data ,and to compare the ex_perimental and control groups with bilateral cerebral cortex function activities for the quantitative analysis .ResuIts The resting state activity intensity in the left inferior temporal gyrus ,left fusiform gyrus ,right cingulate gyrus and left post central gyrus of the experimental group were significantly greater than those of in the corresponding intensi_ty cortex of the control group (P< 0 .01) .ConcIusion The cortex of sensory systems in children with congenital sensorineural deafness may have functional remodeling ,cerebral cortex of patients with sensorineural hearing loss may have perception compensation phenomenon .

Fracturas en una mujer con mialgias difusas e hipocaliemias graves / Fractures in a woman with severe diffuse myalgias and hypokalemia

Resumen El déficit en la mineralización ósea caracteriza al raquitismo y a la osteomalacia, las cuales pueden ser secundarias a deficiencias de calcio o de vitamina D principalmente. La osteomalacia genera síntomas inespecíficos e insidiosos, usualmente minimizados, y puede confundirse con otras condiciones médicas. La densitometría ósea no diferencia entre osteoporosis y osteomalacia, por lo cual corresponde al clínico hacer una evaluación juiciosa de los síntomas, factores de riesgo, antecedentes, alteraciones de laboratorio y hallazgos radiológicos para tratar de descartar la presencia aislada o simultánea de osteomalacia. La exclusión de osteomalacia tiene importantes repercusiones terapéuticas y pronósticas. Presentamos el caso de una paciente con osteomalacia con varias fracturas espontáneas, pseudofracturas de Looser-Milkman, deformidades angulares en rodillas, mialgias difusas y antecedente de acidosis tubular renal, hipocaliemias graves y sordera neurosensorial, la cual venía rotulada y tratada erróneamente como osteoporosis. (Acta Med Colomb 2013; 38: 255-257).

Abstract The deficit in bone mineralization characterizes rickets and osteomalacia, which may be secondary to deficiencies of calcium or mainly of vitamin D. Osteomalacia generates unspecific and insidious symptoms, usually minimized , and can be confused with other medical conditions. Bone densitometry does not differentiate between osteoporosis and osteomalacia, so it is up to the clinician to make a wise assessment of symptoms, risk factors, history, laboratory abnormalities and radiographic findings to try to rule out the presence of isolated or simultaneous osteomalacia. The exclusion of osteomalacia has important therapeutic and prognostic implications. We report the case of a patient with osteomalacia with multiple spontaneous fractures, Looser-Milkman pseudo-fractures, angular deformities in knees, diffuse myalgias, and history of renal tubular acidosis, severe hipokalemias and sensorineural deafness, which had been wrongly labeled and treated as osteoporosis. (Acta Med Colomb 2013; 38: 255-257).

Enfermedades mitocondriales: diagnóstico diferencial de enfermedad cerebrovascular en adulto joven a propósito de un caso / Mitochondrial diseases: differential diagnosis of cerebrovascular disease in young adults: case report

Introduction: Mitochondrial diseases are a heterogeneous group of disorders characterized by impaired oxidative phosphorylation. Clinical manifestations are varied, depending on the nature of the mutation, phenotype of the mitochondria, degree of competition with normal mitochondrial DNA and affected tissues. The diagnosis is challenging and requires a high clinical suspicion with the corroboration of ragged red fibers on the muscle biopsy. Case report: We present the case of 41 years-old woman, with history of insulin dependent diabetes, bilateral sensorineural deafness, exercise intolerance and muscle weakness, which suffered a pseudovascular event with an increase of lactic acid in blood and cerebrospinal fluid. Brain magnetic resonance imaging showed a right temporo-parietal ischemic lesion. Muscle biopsy confirmed a mitochondrial myopathy. We emphasize the relevance of differential diagnosis of cerebrovascular disease in young adults...

Las enfermedades mitocondriales son un grupo heterogéneo de trastornos en la fosforilación oxidativa, que se expresan según la naturaleza de la mutación, el fenotipo de las mitocondrias, el grado de complementación con el mtDNA normal y tejidos afectados. El diagnóstico se basa en la sospecha clínica y en la corroboración de fibras rojo rasgadas en la biopsia muscular con tricrómico de Gomori, entre otras técnicas. Presentamos un caso de una mujer de 41 años, con antecedentes de diabetes mellitus insulinodependiente, hipoacusia neurosensorial bilateral, intolerancia al ejercicio y debilidad muscular, que sufre un cuadro pseudovascular, con aumento del ácido láctico en sangre y LCR. TC y RM cerebral indican lesión isquémica temporoparietal derecha, y biopsia evidencia miopatía mitocondrial. Destacamos la importancia del diagnóstico diferencial de enfermedad cerebrovascular en adulto joven...

Brainstem auditory evoked potential findings in a French bulldog with bilaterally congenital sensorineural deafness / 대한수의학회지

A 3-month-old, intact male French bulldog was suspected of deafness. The dog was irresponsive to environmental noises generated out of sight, but normal responses were noted for visual stimuli. No abnormalities were observed on the neurological, otoscopic, radiographic, and blood examinations. To diagnose the apparent deafness, brainstem auditory evoked potential (BAEP) was recorded in the presented dog together with a normal dog. While the BAEP from the control dog showed a normal wave consisting of 5 peaks, absence of all peaks was noted in the suspected deaf dog. Therefore the dog was definitively diagnosed as bilaterally congenital sensorineural deafness.

Mutación G47R en el gen SBSN causa síndrome de Bartter con sordera en dos hermanas venezolanas / Bartter syndrome with deafness in two venezuelan sisters

El Síndrome de Bartter (SB) es un grupo heterogéneo de tubulopatías autosómicas recesivas, perdedoras de sal e hipokalémicas. Se han identificado cinco tipos de SB causados por diferentes defectos genéticos, uno de ellos está asociado con sordera neurosensorial (SBSN). Recientemente se han descrito mutaciones en el gen SBND, mapeado en el cromosoma 1p31, asociadas con BSNS. El gen Barttin, codifica para una subunidad B esencial, subunidad de los canales ClC-ka y ClC-kb. Ambas subunidades están co- expresadas en la membrana basolateral de los túbulos renales, en las ramas delgada y gruesa del asa de Henle, y en la vascularización del oído interno. En el presente trabajo se describen los casos clínicos de dos hermanas venezolanas hijas de padres consanguíneos (primo-hermanos) de Jadacaquiva en la Península de Paraguaná, estado Falcón. La secuencia de análisis del gen SBSN mostró que las niñas afectadas eran homocigotas para una transición C-T en axón 1. Esta alteración resulta en una mutación ausente, G47R, la cual suprime el efecto estimulante sobre el barttin de la subunidad del canal ClC-KB. Estas niñas con la mutación G47R presentaron polihidramnios, partoprematuro y pérdida de sal. Sin embargo, la tasa de filtración glomerular de las pacientes es normal. Las manifestaciones clínicas son más moderadas en pacientes con mutación G47R, en relación a otros pacientes publicados con SBSN. Éste es el primer reporte de casos con SBSN en Venezuela.

Bartter syndrome (BS) is a heterogeneous group of autosomal recessive hypokalemic salt-losing tubulopathies. Five types of BS caused by different genetic defects have been identified, and one of them is associated with sensorineural deafness (BSND). Mutations in the recently described BSND gene, mapped in chromosome 1p31, have been reported to be associated with BSNS. This gene encodes barttin, an essential B-subunit ClC-ka and ClC-kb channels. Both subunits are co-expressed in basolateral membranes of renal tubules in the thin and thick ascending limb of Henle’s loop and in the stria vascularis of the inner ear. We studied two venezuelan sisters, daughters of consanguineous parents from a small town called Jadacaquiva, in the peninsula of Paraguaná, Venezuela. Sequence analysis of the BSND gene showed that the affected members were homozygous for C to T transition in axon 1. This alteration results in a missense mutation, G47R that has been previously shown to abolish the stimulatory effect on the subunit barttin of the ClC-Kb channel. The patients with the G47R mutation presented polyhidramnios, premature birth and salt loss. Nevertheless, glomerular filtration rate is normal. Clinical manifestations are moderate in patients with G47R mutation with regard to other patients reported with BSND. This is the first report of BSND in Venezuela.

Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.

Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H+-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation C>T in the first coding exon of the gene, resulting in a non functional protein. The parents were found to be carriers for the mutation.

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene / Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea

Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21 percent of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are...

A syndrome de Pendred (SP) é uma doença autossômica recessiva caracterizada por surdez neurossensorial, bócio e defeito de organificação do iodo. A perda auditiva está associada a anormalidades do ouvido interno, desde a dilatação isolada do aqueduto vestibular (DAV) até uma típica displasia coclear. Mutações no gene que codifica a pendrina (SLC26A4), um transportador de cloreto/iodeto, têm sido associadas à SP. Descrevemos as características clínicas e moleculares de uma grande família consangüínea portadora de uma mutação no gene SLC26A4. O caso-índice era uma paciente do sexo feminino, brasileira, 26 anos, portadora de surdez congênita, que apresentava um volumoso bócio multinodular e hipotireoidismo desde a puberdade. Outros cinco irmãos eram surdos: um irmão tinha fenotipo semelhante, três também tinham bócio, porém com função tiroideana normal e um irmão tinha apenas um discreto aumento da tiróide. Outros quatro irmãos não apresentavam alteração tiroideana ou auditiva. Os pais eram primos de primeiro grau e tinham audição normal. A mãe era saudável, exceto por hipotireoidismo subclínico; o pai era falecido. O teste do perclorato no caso-índice revelou a liberação de 21 por cento do iodo incorporado duas horas após a administração de 1 g de KClO4. Os exames audiológicos mostraram perda auditiva profunda em todos os indivíduos afetados; TC e RMN dos ossos temporais mostraram DAV em todos eles. O DNA genômico foi isolado do sangue total dos seis irmãos afetados e dos quatro não-afetados, da mãe e do controle. A região codificante do gene PDS (éxons 2-21), incluindo as junções éxon/íntron, foram amplificadas por PCR e seqüenciadas. Foi detectada a deleção de uma base (T) na posição 1197 do éxon 10, em homozigoze, nos seis irmãos afetados. A mãe e dois irmãos não-afetados eram heterozigotos para a mutação, que foi descrita inicialmente por Everett e cols. A mutação 1197delT provavelmente resulta em um erro de fase de leitura (frameshift)...

Some remarks on the features and rick factors of sensorineural deafness in children

192 children with sensorineural deafness were included in this study. The most of children were diagnosed late with ages over 24 months (92%). Only 18% of children were discovered early and instantly examined in otorhinolarygologic facilities, while 72% of children were treated when they were at school ages. Among 99% of children with severe deafness, 68% had deafness due to flare-up of the fire of the liver and gall bladder and 32% of cases with deafness due to insufficiency of the Yin or the liver and kidney. Congenital deafness only accounted for 8% of cases, while the most of cases with deafness were resulted from preventable causes, out of them 28% of cases with deafness related to pregnancy and childbirth and 20% of cases with deafness related to the administration of aminosids

A Study on the Hearing Recovery Patterns in Sudden Sensorineural Hearing Loss Patients / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Sudden sensorineural hearing loss is a disease that is developed within several hours to several days, but its etiology is not verified yet. Therefore, no specific regimen is available for the treatment of this disease. The purpose of this study is to seek the therapeutic effect of the corticosteroid on the sudden sensorineural hearing loss patients through many variables known as prognostic factors. The author also tried to find a relationship between the hearing recovery patterns and the prognostic factors that were not established yet. MATERIALS AND METHOD: Clinical analysis was performed in 173 patients with sudden hearing loss admitted in Chonnam National University Hospital from January 1996 to July 2001. RESULTS: Recovery was seen in 104 cases out of 173 cases, with the total recovery rate of 60.1%. Patients who had been treated within a week after the symptoms had a better recovery rate than those treated after a week (p< OR =0.05). The recovery rate was better for the moderate-severe, and severe hearing loss (p< OR =0.05). Patients of all audiograms except the profound one had a better recovery rate (p< OR =0.05). Among the patients who had been treated within a week, the dizzy patients had the lower recovery rate than the non-dizzy patients (p< OR =0.05). Other factors such as age and sex, tinnitus and ear fullness as accompanying symptoms, the site of disease, and the presence of underlying disease were not related with prognosis. CONCLUSION: The recovery rate was better in patients who had been treated within a week, and for those whose hearing was moderate-severe and severe, and their audiogram upsloping, V-shape, flat, and downsloping, and who were not dizzy.