Congenital Deaf-mutism Research Articles

A retrospective study of the effect of dexmedetomidine infusion in cochlear implant surgery among pediatric patients

Cochlear implantation surgery is usually performed in paediatric patient of 1 to 7 years of age with congenital deaf-mutism. Good results in this surgery are obtained by providing bloodless surgical field with controlled hypotension and postoperative smooth outcome. To anaesthetize these patients, we are using Inj Propofol, Inj fentanyl, Sevoflurane, Dexmedetomidine infusion and muscle relaxants. Dexmedetomidine is an active isomer of medetomidine and an agonist at α2 –adreno receptors. Medetomidine provides perioperative sedation and analgesia thus decreasing other general anaesthetic drug requirement, reduced postoperative pain score, postoperative delirium and other complications.To determine that inj. Dexmedetomidine infusion is a suitable agent for haemodynamic stability, decreases need of other general anesthetic drug requirement intraoperatively and improves post-operative outcome in cochlear implant surgery.This study was conducted at a rural tertiary care center, which included 100 samples of pediatric patients (1-7 years of age group) who went through cochlear implant surgeries in last 3 years. Among all patients, heart rate (HR) remained stable and there was no significant difference between baseline HR and intra-op HR (P=0.3098). The systolic blood pressure (SBP) was decreased significantly compared to baseline reading (P value < 0.0001), but the diastolic blood pressure was not decreased significantly (P= 0.0612).Dexmedetomidine provides stable haemodynamics, acceptable hypotensive state, good surgical field and excellent analgesia in pediatric patients undergoing cochlear implant surgery.

Imaging in congenital inner ear malformations—An algorithmic approach

Malformations of the inner ear are an important cause of congenital deaf-mutism. Arrest in embryologic development of inner ear during various stages gives rise to the variety of malformations encountered. Current treatment options include hearing aids, cochlear implants, and auditory brainstem implants (ABI). With the advent of cochlear implant surgery and ABI, decent functional outcomes can be obtained provided such cases are diagnosed correctly and timely. To that end, high-resolution computed tomography (HRCT) has a fundamental role in the assessment of these conditions, ably supplemented by magnetic resonance imaging (MRI). The purpose of this pictorial essay is to illustrate the imaging features of inner ear anomalies in children with congenital deaf-mutism as per the latest terminology and classification and provide an algorithmic approach for their diagnosis.

Ebstein's anomaly of the tricuspid valve associated with congenital deafmutism

Ebstein's anomaly is the most common congenital abnormality of the tricuspid valve and accounts for about 0.5% of cases of the congenital heart diseases. It has occasionally been associated with other syndromes but not with the congenital deafmutism. The first case of Ebstein's anomaly associated with the congenital deafmutism is reported. The patient remained asymptomatic until the age of 35 years and presented with palpitations and dizzy spells. This patient also manifested mitral valve prolapse and Wolff-Parkinson-White syndrome with right-sided accessory conduction pathway

History of Electrocardiology

Annals of Noninvasive ElectrocardiologyVolume 4, Issue 3 p. 360-361 Free to Read History of Electrocardiology “Congenital Deaf-Mutism, Functional Heart Disease with Prolongation of the Q-T Interval, and Sudden Death” Arthur J. Moss M.D., Arthur J. Moss M.D. Rochester, NYSearch for more papers by this author Arthur J. Moss M.D., Arthur J. Moss M.D. Rochester, NYSearch for more papers by this author First published: 27 October 2006 https://doi.org/10.1111/j.1542-474X.1999.tb00221.x Reprinted with permission from American Heart Journal, 1957; Vol. 54:49–68. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume4, Issue3July 1999Pages 360-361 RelatedInformation

CONGENITAL DEAF‐MUTISM, FUNCTIONAL HEART DISEASE WITH PROLONGATION OF THE Q‐T INTERVAL, AND SUDDEN DEATH

Annals of Noninvasive ElectrocardiologyVolume 4, Issue 3 p. 362-371 Free to Read CONGENITAL DEAF-MUTISM, FUNCTIONAL HEART DISEASE WITH PROLONGATION OF THE Q-T INTERVAL, AND SUDDEN DEATH Anton Jervell M.D., Anton Jervell M.D. Tonsberg, NorwaySearch for more papers by this authorFred Lange Nielsen M.D., Fred Lange Nielsen M.D. Tonsberg, NorwaySearch for more papers by this author Anton Jervell M.D., Anton Jervell M.D. Tonsberg, NorwaySearch for more papers by this authorFred Lange Nielsen M.D., Fred Lange Nielsen M.D. Tonsberg, NorwaySearch for more papers by this author First published: 27 October 2006 https://doi.org/10.1111/j.1542-474X.1999.tb00222.x Department of Medicine, Vestfold Sentral-sykehus, Tönsberg, Norway. Received for publication Nob. 8, 1956 AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Volume4, Issue3July 1999Pages 362-371 RelatedInformation

Neurological Disorders in Saudi Children at the Al-Majardah General Hospital, Asir Region

Over a 20-month period (June 1988 to January 1990), 180 Saudi children with neurological disorders were seen at the Al-Majardah General Hospital, Asir Region. These constituted 7.5% of all the pediatric inpatients and outpatients. More than one-half of the children were under three years of age and 74% were six years and below. In the series, convulsive disorders accounted for 28.9% of cases, followed by cerebral palsy (18.9%), mental retardation (16.7%), infections (9.4%), trauma (8.9%), and disorders of the primary senses (6.7%). In 57% of the children, the lesions were due to acquired and mostly preventable etiological factors whereas approximately 24% of the children suffered from prenatal (congenital) disorders, some of which were also preventable. The need for continued appraisal of the maternal and child care services as well as extension of rehabilitative facilities to handicapped children in rural areas of the Kingdom is highlighted.

Waardenburg's Syndrome: Case Reports in Two Nigerians

We saw two cases of Waardenburg's syndrome in Nigerian children. A 9-year-old girl had congenital deaf-mutism, high-arched palate, complete heterochromia iridis with pigment mottling in the posterior pole of the eye with the hypochromic iris, dyspigmented frontal scalp hair, a history of vitiligo, but with no dystopia canthorum. An 11-year-old boy had a harelip with cleft palate, heterochromia iridis, blonde fundus on the eye with blue iris, and dystopia canthorum.

Typical and atypical cases of Pendred's syndrome in one family.

ABSTRACT Pendred's syndrome is a condition which, in its complete form, is characterized by congenital deaf-mutism, goitre, and defective organic binding of iodide in the thyroid. However, there are less typical cases, e. g. without a goitre, with only limited hearing loss, or a normal perchlorate discharge test. A family was studied in which Pendred's syndrome was found in two generations. The complete form was present in two members; two other members were considered to show less typical forms of the same disorder. All were euthyroid. Three out of five sons were deaf-mute and goitrous. Perchlorate caused a discharge of radioiodine from the thyroid in two of them, and also in the father who had no goitre and a slight loss of hearing only detectable by audiometry. Peripheral deiodination of radioactive diiodotyrosine was normal in all patients, but had been abnormal in one son while he was hypothyroid.

On a Pedigree Suggesting Plurality of the Recessive Gene for Congenital Deaf-mutism

On a Pedigree Suggesting Plurality of the Recessive Gene for Congenital Deaf-mutism

RECESSIVE TOTAL ALBINISM AND CONGENITAL DEAF-MUTISM.

Simultaneous occurrence of autosomal recessive total albinism and congenital perceptive deafness is reported in four children belonging to two related consanguineous Jewish-Moroccan sibships. In one of these sibships three other sisters are affected with congenital deafness only. Clinical and laboratory findings in one of the sibships are presented, and the genetical interpretation is discussed.

STUDIES ON CHOLINESTERASE OF LABYRINTHINE AND SPINAL FLUID

Part I In spite of the recent development of the chemical substance theory on nerve impulse, very few biochemical investigations have been reported on the cochlear response.The author studied the Cholinesterase (ChE) activity of the labyrinthine fluid of guinea-pigs by Conway's microdiffusion analysis.The results obtained were as follows, 1. ChE in the labyrinthine fluid, both that in endolymph and perilymph, was specific Choli-nesterase.2. ChE activity of endolymph was about 4.36 times as much as that of perilymph. Free acetic acid produced from acetylcholine by 1mg endolymph in 40minutes at 38° was 0.0183mg% and by 1mg perilymph, 0.0042mg%.3. The injection of 2% Quinine hydrochloride solution (0.05gr per kg.) decreased gradually the ChE activity of endolymph and perilymph in parallel, but the diminution was slow and small in comparison with other cases.4. The injection of Dihydrostreptomycin (0.4g per kg) decreased the ChE activity more remarka-bly and earlier than the case of Quinine. The diminution of ChE activity of perilymph was more remarkable than that of endolymph.5. The sound stimulation (3000 cps 90db) for 60 hours diminished markedly the ChE activity of labyrinthine fluid and that of endolymph as if inhibited completely.Without stimulation for 7 days after 60 hours stimulation, the ChE activity of endolymph was recovered remarkably, but that of perilymph still remained low.In case of the experiment of repeated 12 hours stimulation and 7 day nonstimuration, the dimi-nution of ChE activity of labyrinthine fluid was slight.Part II The author carried out the clinical experiments on the ChE activity of spinal fluid by Hesterin's method with Beckman's spectrophotometer.The results obtained were as follows.1. Normal ChE activity was 0.175±0.006 ElogIo/I in equilibrium at range λ500mμ, the upper limit was 0.200, and the lower limit was 0.140.2. In 11 cases of conductive deafness, the ChE activities were normal or slightly below normal value except 2 cases of otitis media exsudativa acuta (0.200, 0.210).3. In 19 cases of nerve deafness, a considerable diminution of ChE activity was observed except 2 cases. Especially, in deafness due to detonation, sudden, traumatic, streptomycin, Menier's syndro-me, following to cerebral abscess, Congenital deafmutism, the ChE activity decreased remarkably.Two cases of Cholesteatoma-deafness and nerve deafness with central retinitis showed normal value.

POINTS FROM LETTERS: Congenital Deaf-mutism

POINTS FROM LETTERS: Congenital Deaf-mutism

HEREDITARY STUDIES ON CONGENITAL ATRESIA OF THE EAR

The systematic hereditary studies of congenital atresia of the ears of 98 families among 144 patients were observed. These patients consisted of the outpatients of the Depertment of Otorhinol-aryngology, Keio University Hospital, patients examined in Shizuoka-Prefecture, students in Primary and Junior High Schools in Tokyo and Deaf-mute Schools in Japan.The results were as follows:1) The possibility of heredity could be considered. The reasons are as below mentioned.(a) The familiar appearances were found among 98 families.(b) The morbidity was 2.02% among probands'fathers and 0.61% among their aunts. These mor-bidities were higher compared with 0.0016%, the mean of the morbidities of the general population.(c) The same disease was found in twin brothers (monozygotic twin supplied by Dr. Fujita)2) It was pointed out by many authors that the sex ratios in hereditary malformations and diseases were higher in the male than in the female. The ratio observed by the author was 78.49/ in the male and 21.51% in the female patients. Affected-side ratios were 30.63% on the left, 63.96% on the right and 5.41% on both sides. These ratios were almost similar to those reported by American, European and other Japanese authors.3) Several associated malformations and congenital diseases are often found in probands, their sibships and other relatives when one congenital malformation is investigated. The observation of these associations were also very important in view of the embryology and heredity. In my studies, the associated ratio was 18.18% in probands and 29.90, %, in their families. The kinds of associationswere Atresia auris congenita, congenital paralysis of facial nerves, congenital lameless, congenital scoliosis, microphthalmus congenita, polydactylia, several kinds of psyco'sis, congenital deaf-mutism, etc.4) The familiar appearances were not frequent enough to investigate the families of the 98 pro-bands by means of statistical and hiometry examination. But by observing their pedigrees directly, the auther obtained the results as follows:(a) In most pedigrees, the charactor appeared in the father's or mother's side only.(b) There were pedigrees that the charactor was handed down from one of the parents to theirchildren.(c) The intermarriage ratio, as observed by the author, was 8.08±2.72%, which had no significantdifference compared with 4.69±0.33%, the ratio of the general population reported by Dr. Kawa-kami, and 7.1% reported by Dr. Tachikawa.(d) The morbidity of their sibships was very low, in spite of the fact that the morbidity perce-ntage would be higher in their sibships if this disease had a very low percentage and followedthe recessive hereditary system.(e) The penetrance of this disease was 1.02±10.09% among 98 pedigrees.From the above stated results, the author concludes that Atresia auris congenita follows the dominant hereditary system with very low penetrance.

Congenital Deaf-mutism

Congenital Deaf-mutism

Congenital Deaf-mutism

Congenital Deaf-mutism

Congenital Deaf-mutism

Congenital Deaf-mutism

Congenital Deaf-mutism

Congenital Deaf-mutism

Congenital Deaf-mutism

Congenital Deaf-mutism

Aetiology and treatment of congenital deaf-mutism.

Aetiology and treatment of congenital deaf-mutism.

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death

Four cases of deaf-mutism combined with a peculiar heart disease have been observed in one family. The parents and 2 other children were healthy and had normal hearing. The deaf-mute children all suffered attacks of fainting, probably Adams-Stokes seizures caused by standstill of the heart. The first attack occurred between the ages of 3 and 5 years, and 3 of the children died in such attacks at the ages of 4, 5, and 9 years, respectively. Electrocardiographic studies in 3 of the cases revealed a marked prolongation of the Q-T interval. However, no clinical or roentgenologic evidence of organic heart disease was disclosed. Autopsy was performed in one of the children. No gross abnormality of the heart was revealed, and the microscopic appearance of the heart muscle was normal. In this case a further prolongation of the Q-T interval followed exercise and quinidine medication, while a shortening was observed after atropine and particularly after digitalis medication. Following effort and quinidine medication, changes in the T waves were observed, also. The mechanical systole, evaluated by phonocardiography, was not correspondingly lengthened. None of the known causes of prolongation of the Q-T interval could be demonstrated. The blood levels for calcium, phosphorus, and potassium were all normal, as were also the basal metabolic rate and the glucose tolerance test. The condition is considered to be due to a congenital disorder of the myocardial metabolism, caused by some enzymatic deficiency. The unusual clinical symptoms, the exceptional electrocardiographic findings, and the serious outcome of the illness, together, represent a characteristic syndrome which to our knowledge has not been described before. The disorder may be in some cases a possible cause of inexplicable death in children.