Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation

No abstract available.

High frequency of autistic traits in Williams-Beuren patients / Alta frequência dos traços de autismo em pacientes com síndrome de Williams-Beuren

Williams-Beuren syndrome is characterized by typical facies, supravalvular aortic stenosis, mental retardation, hyperacusis, and behavioral abnormalities with overfriendly personality and anxiety disorders. It is caused by a microdeletion of contiguous genes located in the 7q11.23 region. We studied 31 patients with the Williams-Beuren syndrome (19 men and 12 women), whose ages ranged from 9 to 26 years-old (median 14 years-old). The Williams-Beuren syndrome diagnosis was confirmed by FISH or microsatellite markers analysis in all patients. The objectives were to evaluate cognitive ability, verbal and total intelligence quotient execution, frequency of visual-spatial deficits, and autistic traits and to compare the results of molecular findings. The tests used were the WISC-III, WAIS-III, Rey Complex Figure and a scale of autistic traits. Their total intelligence quotient scores ranged from 51 to 86 (median of 63): 22 with mild mental retardation, 4 with moderate retardation, 4 classified as borderline and 1 as below average. All patients had marked visual-spatial deficit. The frequency of autistic traits was found in 13 of 31 patients (41.94%), with a predominance in males (ten men and three women). There was no correlation with the incidence of autistic traits in relation to the size of the deletion. This study reinforces the importance of the systematic assessment of cognitive function in Williams-Beuren syndrome patients, and it alerts researchers to the presence of a high frequency of autistic traits, as opposed to the overfriendly personality traits, which is typically showed by Williams-Beuren syndrome patients. These latter data are preliminary and further studies are necessary to confirm this specific finding in Williams-Beuren syndrome patients.

A síndrome de Williams-Beuren é caracterizada por fácies típicos, estenose aórtica supravalvar, retardo mental, hiperacusia e anormalidades comportamentais com personalidade amigável e distúrbios de ansiedade. É causada por microdeleção de genes contíguos localizados na região 7q11.23. Foram estudados 31 pacientes com a síndrome de Williams-Beuren (19 homens e 12 mulheres), cujas idades variaram de 9 a 26 anos (mediana de 14 anos). O diagnóstico da síndrome de Williams-Beuren foi confirmado pelo FISH (Fluorescence In Situ Hibridisation) ou por análise de marcadores microssatélites em todos os pacientes. Os objetivos foram: avaliar a capacidade cognitiva, o quociente de inteligência de execução verbal e total, a frequência de déficits visoespaciais, traços autistas; e comparar os resultados dos achados moleculares. Os testes utilizados foram: WISC-III, WAIS-III, Figuras Complexas de Rey e Escala de Traços Autísticos. Os pacientes apresentaram déficit cognitivo em todos os testes, o quociente de inteligência total variou de 51 a 86 (mediana de 63): 22 com deficiência mental leve, 4 com deficiência mental moderada; 4 limítrofes e 1 com média inferior. Os pacientes apresentaram déficit visoespacial. A frequência de traços autistas foi encontrada em 13 dos 31 pacientes (41,94%), com predomínio no sexo masculino (dez homens e três mulheres). Não foi encontrada correlação entre a presença de traços autísticos em relação ao tamanho da deleção. O presente estudo reforça a importância da avaliação sistemática da função cognitiva em pacientes com a síndrome de Williams-Beuren e alerta para a presença da alta frequência de traços autistas, que é o oposto da personalidade amigável tipicamente encontrada em pacientes com síndrome de Williams-Beuren. Estes últimos dados são preliminares e novos estudos serão necessários para confirmar este achado específico na síndrome de Williams-Beuren.

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.

Comparison of the Efficacy of Systemic and Intratympanic Steroid Treatment on Sudden Sensorineural Hearing Loss with Diabetes / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: High dose systemic steroid therapy is currently the mainstay of the treatment for sudden sensorineural hearing loss (SSNHL). However, it makes a glycemic control worse in patients with diabetes. Intratympanic steroid injection (ITSI) can result in reduced systemic steroid toxicity and higher perilymph steroid level selectively. The purpose of this study is to compare the efficacy of ITSI (IT group) with that of systemic steroid (IV group) on SSNHL with diabetes. SUBJECTS AND METHOD: Thirty eight SSNHL patients who were diagnosed with diabetes were divided into the IV group (19 patients) and the IT group (19 patients). In the IV group, prednisolone was administrated intravenously for 7 days followed by tapered doses orally for 7 days. In the IT group, dexamethasone was administrated 4 times within a 2 week-period. Hearing outcome was assessed before and after treatment. RESULTS: In the IV group, 10 patients (58.8%) showed an improvement in the pure tone audiogram (PTA), with a mean improvement of 17.6 dB (p=0.023). In the IT group, 16 patients (84.2%) showed improvement in the PTA, with the mean improvement of 25.1 dB (p=0.000). But there was no significant difference in hearing gain and the recovery rate between the two groups. And it is more difficult to control blood sugar in the IV group rather than in the IT group. CONCLUSION: ITSI treatment is as effective as the systemic steroid treatment for SSNHL patients with diabetes and it can avoid a significant side effect of systemic steroids. So it could be considered as an initial treatment for the SSNHL patient with diabetes.

Reconstruction of the Posterior Canal Wall with Mastoid Obliteration after Canal Wall Down Mastoidectomy / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: There have been heated controversies over the choice of the canal wall down mastoidectomy (CWD) and canal wall up mastoidectomy (CWU), which are operational methods used to eliminate the lesion of cholesteatoma. Combining the advantages of both methods, we reconstructed the posterior canal wall with conchal cartilage plate and obliterated mastoid cavity with bone chips (group I), or hydroxyapatite mixed with bone chips (group II) since 2001. This study was designed to evaluate the surgical outcomes of posterior canal wall reconstruction with mastoid obliteration in the treatment of cholesteatoma. SUBJECTS AND METHOD: From January of 2001 to March of 2007, the posterior canal wall reconstruction with mastoid obliteration was conducted on 66 patients. There were 30 cases of cholesteatoma and 36 cases of old radical cavity. The postoperative observation period ranged from 5 to 74 months, with the average period of 34.7 months. We analyzed the postoperative complications, and hearing results of the 33 ossicular reconstruction cases. RESULTS: There was 1 case of residual cholesteatoma in the middle ear cavity, but no recurrent cholesteatoma. In most cases, reconstructed canal wall was maintained well, but partial canal wall resorption and postauricular dimpling occurred in 5 cases of group I. On the other hand, the epithelization of posterior canal wall was incomplete in 4 cases of group II. After surgery, no patients complained any cavity problems at all. CONCLUSION: The present study suggests that this procedure can prevent cavity problems and reduce the recurrence of cholesteatoma with destructed canal wall.

Trissomia, Tetrassomia e pentassomia do cromossomo X: relato de 11 casos / X chromosome trisomy, tetrasomy, pentasomy: report of 11 cases

Objetivo: apresentar o quadro clínico de pacientes com trissomia, tetrassomia e pentassomia do cromossomo X...

Objective: to present the clinical findings featured by patients bearing chromossome X trisomy, tetrasomy and pentasomy...

A Case of Actinomycosis of the Vocal Cord / 대한이비인후과학회지

Actinomycosis is a chronic granulomatous infective disease caused by microaerophilic gram-positive bacteria of the genus Actinomyces. It presents a challenging clinical diagnostic dilemma because of variable presentations in the head and neck. It involves the upper airway and gastrointestinal tract. Actinomycosis of the larynx is rare, especially in vocal cord. Here, we report a rare case of actinomycosis presenting as a vocal cord nodule in a healthy 45-year-old woman with a review of the literature.

O pediatra e o aconselhamento genético / The pediatrician and genetic couseling

O geneticista alerta os pediatras para os três tipos de doença genética - etiologia complexa, aberrações cromossômicas e monogênicas. São destacadas as indicações de avaliação genética. Há necessidade de documentação do caso pelo pediatra, para esclarecimento diagnóstico...

Aesthetic Correction Using an Auricular Conchal Cartilage Graft and LASER for Nostril and Vestibular Stenosis / 대한이비인후과학회지

Stenosis of the nostril is a rare deformity. The most common etiology is trauma. Iatrogenic trauma is a significant contributor; examples being prolonged nasal packing under tension, chemical cauterization, or other nasal procedures. Other causative factors include congenital malformations and infections. This deformity is considered a challenging problem because of frequent relapses and unsatisfactory corrections. The standard technique by which this deformity is reconstructed is by excision of the cicatrical stenosis and insertion of a split-thickness skin autograft over a mold. This technique will enlarge the nostril but will not correct the narrowing of the vestibular stenosis and nasal valve area. So, nasal obstruction symptoms remain. This paper describes a case of nostril and vestibular stenosis in a 58-year-old woman that was corrected successfully in a single stage. In this paper, not only nostril but also vestibular stenosis and nasal valve area narrowing were properly reconstructed by using an auricular conchal cartilage graft, LASER excision, and a nostril stent. The following is a report on this research.

Síndrome de Williams-Beuren: anomalias cardiovasculares em 20 pacientes diagnosticados pela hibridazação in situ por fluorescência / Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization

OBJECTIVE: To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome. METHODS: We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with electrocardiography and Doppler echocardiography. Fluorescence in situ hybridization (FISH) was used to confirm the diagnosis of the syndrome. RESULTS: Elastin gene locus microdeletion was detected in 17 patients (85 percent) (positive FISH), and in 3 patients deletion was not detected (negative FISH). Sixteen patients with a positive FISH (94 percent) had congenital cardiovascular disease (mean age at diagnosis: 2,3 years old). We observed isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16). Four patients with severe supravalvular aortic stenosis underwent surgery (mean age: 5.7 years old), and 2 patients had normal pressure gradients (mean follow-up: 8.4 years). CONCLUSION: A detailed cardiac evaluation must be performed in all patients with Williams-Beuren syndrome due to the high frequency of cardiovascular abnormalities

Two Cases of Pilomatrixoma in Neck / 대한이비인후과학회지

Pilomatrixoma or calcifying epithelioma is a rare benign tumor arising from hair cortex cell or hair follicle of sebaceous glands. But because of it's characteristic clinical presentation, practitioners should be aware of it's clinical feature. Most frequently, the tumor presents as a superficial located solitary, rock hard and noninvasive cutaneous mass on the face, neck or upper extrimities, that is often accompanied by reddish-blue discoloration of the overlying skin. It usually occurs within the first two decades of life. Recently, we experienced two cases of pilomatrixoma in the head and neck, which was diagnosed by histopathologic examination. The tumor was successfully removed by complete resection. So we report two cases with a review of literature.

Hemostatic Efficacy of Topical Application of Cold Hydrogen Peroxide in Adenoidectomy / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Adenoidectomy is one of the most common procedures in the field of otolaryngology, and various hemostatic agents and techniques have been used for stanching the wound of adenoidectomy site. The aim of this study is to evaluate the hemostatic efficacy of topical application of cold hydrogen peroxide in adenoidectomy. MATERIALS AND METHOD: We randomly divided 120 candidates (aged 3-14 years) for adenoidectomy into 4 groups, and 3% hydrogen peroxide (3+/-2degrees C), 3% hydrogen peroxide (20+/-2degrees C), 0.05% epinephrine solution (3+/-2degrees C) and 0.05% epinephrine solution (20+/-2degrees C) were applied topically to each group respectively. The time consumed for bleeding control, and the hemostatic findings of adenoidectomy wound at 5 minutes after curretage, 6 hours after operation of each group were compared. RESULTS: The use of cold hydrogen peroxide significantly reduced intraoperative time when compared with uisng other hemostatic agents. And in the adenoidectomy site, it is found that the incidence of oozing and active bleeding decreased when cold hydrogen was applied. CONCLUSION: Cold hydrogen peroxide is a useful agent for hemostasis in adenoidectomy.

Benign Osteoblastoma of the Temporal Bone / 대한이비인후과학회지

An osteoblastoma is a rare, benign and vascular tumor of bone that commonly affects the vertebrae or the long bones. Histologically, it is characterized by numerous osteoblast cells and its occurrence in the temporal bone is extremely rare in the world thus far. A 17-year old woman was referred to us with an one-year history of tinnitus and decreased hearing in the right ear. CT (computerized tomography) scan showed a 2.5 X 2 X 1 cm sized, well defined soft tissue mass with central heterogeneous high density lesion in the right temporal bone. T1 and T2-weighted MRI (magnetic resonance image) scan showed iso-signal intensity and strong enhancement with administration of contrast materials at the periphery. Biopsy specimen showed the bony trabeculae of various sizes and rimming osteoblasts surrounded by spreading vascular stromas. Preoperative arterial embolization was done because massive bleeding during operation was expected. We did partial resection of the tumor wih the open cavity mastoidectomy with type III tympanoplasty. She was in good shape and there was no evidence of neurological deficits or recurrence after 17 months' follow-up. We experienced an osteoblastoma of the temporal bone. So we present this case with literature reviews.

Two cases of fish bone foreign body presenting as tongue and neck mass / 대한이비인후과학회지

Foreign bodies are one of the most frequently observed accidental cases in the otolaryngological fields. Most of food pieces as foreign bodies are removable with a laryngoscope or a esophagoscope, etc. But sometimes surgical removal is needed, as in the two interesting cases we experienced of fish bones. One case was misconceived as tongue cancer at first, and the other case dealt with the migration of a fish bone from hypopharynx to the cervical space We removed them surgically. So we report these cases with a review of literature.

The Clinical and Component Analyses of Submandibular Sialolithes / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Sialolithiasis occurs in the submandibular gland rather than in the parotid or sublingual gland. It was manifested by several biochemical and anatomical factors inducing saliva retension. There have been various clinical reports about sialolith, but only a few analytical reports. MATERIALS AND METHODS: A retrospective review was carried out for the period of July, 1998 to July, 2000 of 25 cases of the submandibular sialolithes, which was diagnosed and removed . We performed clinical and component analysis of sialolithes with a new method that uses the absorption band of an infrared spectrometer analysis. RESULTS: Calcium phosphate (16 cases) showed a strong band at 1000cm-1 and calcium phosphate and albumin (9 cases) showed a strong double band at 1700cm-1 and 1000cm-1. The incidence of submandibular sialolithiasis was predominant in females, accounting for the male to female ratio of 8:17. The age distribution of sialolithes was 15 to 62 years. Sialolithes were removed by the transoral approach under local anesthesia and external approach (submandibular gland resection) under general anesthesia. For most patients, sialolithes were brown in color (12 cases), 2~14mm in size, 2.1~1636.8ng in weight and located on the Wharton's duct orifice (17 cases). CONCLUSION: The most common types of sialolithes were calcium phosphate (16 cases, 64%). The rest of sialolithes (9 cases, 36%) were mixed calcium phosphate and albumin. Compared to all the other methods used in the sialolithes analysis, the infrared analysis furnished the permanent record in the shortest time. It was also ideal for qualitative identification and semiquantitative estimation of small fractions of calcium.

Achados cardíacos em 31 pacientes com síndrome de Noonan / Cardiac findings in 31 patients with Noonan's syndrome

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80 percent of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease

A Case of Ameloblastoma in the Maxilla / 대한이비인후과학회지

Ameloblastoma occurs most commonly at the jaw and accounts for 1% of all tumors of jaw. There have been much arguments about ameloblastoma in name, development, classification and treatment. According to the histologic classification of tumors announced by WHO, ameloblastoma had been classified as benign and malignant. And now it is classified as unicystic, multicystic and peripheral ameloblastoma. It has both benign and partially invasive, malignant character. It occurs commonly at the mandible and rarely at the maxilla. According to statistics, it occurs at the mandible 80-95% and at the maxilla 5-20%. We have experienced a case of ameloblastoma occurring in the maxilla, and treated with infrastructure maxillectomy. The histopathologic diagnosis was a acanthomatous ameloblastoma. So, we present this case with a review of literature.

Recovery Time of Auricular Sensation after the Retroauricular Incision / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: When the great auricular nerve and lesser occipital nerve are transected via retroauricular incision in ear surgeries, postsurgical hypoesthesia and numbness of the ear can occur. However, little attention has been paid to these symptoms and the morbidity associated with their sacrifice. Therefore, in this study, we examined the recovery time of auricle sensation. MATERIAL AND METHODS: Thirty patients who had received mastoidectomy with retroauricular incision in Wallace Memorial Baptist Hospital from November 1998 to March 1999 were included in this study. For these patients, two point discriminatian tests were performed by placing the sharp legs of a compass at the lower 1/3 portion of the auricular helix before and after the surgery at 1-week intervals until the postoperative value became equal to the preoperative value. We also measured the minimal painful Ampere with the electrical stimulator in the same area, and in triangular fossa and cavum concha before and after the surgery while carring out the two point discrimination study. RESULTS: With the two point discrimination test, the postoperative value became equal to the preoperative value 17.23+/-1.88 weeks after the surgery. With the electrical stimulation which uses a Hilger stimulator, the time when postoperative value became equal to the preoperative value was found to be 17.7+/-2.03 weeks at the lower 1/3 portion of the helix, 20.l3+/-2.16 weeks at triangular fossa and 20.66+/-1.64 weeks at cavum concha, The result of the two point discrimination test was not statistically different from that of the electrical stimulation test using Hilger facial nerve stimulator at the lower 1/3 portion of the helix (p<0.05). CONCLUSIONS: We thought that Hilger stimulator may be useful in assessing the sensory recovery time, and we could measure the sensory recovery rime at three positions of the auricle innervated by different nerves.

Sindrome de Pallister Killian ou tetrassomia do braco curto do cromossomo 12 em mosaico : relato de dois casos diagnosticados pela hibridizacao in situ por fluorescencia (FISH) / Pallister Killian syndrome or tetrasomy of the short arm of the chromosome 12 mosaicism : report on two cases diagnosed by fluorescense in situ hybridization

A sindrome de Pallister Killian (SPK) e uma doenca rara caracterizada por multiplas malformacoes, retardo mental profundo e presenca de um isocromossomo...