Evaluating the application efficiency of the MHSeqTyper47 kit in kinship identification / 中国法医学杂志

Objective To investigate the application value of the MHSeqTyper47 kit in kinship identification.Methods Multiplexed amplification and library preparation were performed for DNA samples from 113 related individuals by using the MHSeqTyper47 kit.The libraries were sequenced on a MiSeq FGx sequencer,and the data were analyzed using MHTyper for microhaplotype genotyping.The kinship indexes were calculated to evaluate the application efficiency of this kit in kinship identification and compared with those of the GlobalFilerTM kit.Results For the MHSeqTyper47 kit,the CPI values in trio identification were 1.43× 1011～6.15×1018.The CPI values in duo identification were 1.02× 105～1.53× 1013.The CFSI values in full sibling identification were 7.73×101～2.59×1016.Trios,duos and full siblings could be completely distinguished from unrelated pairs.The combined efficiency of these two kits in 2nd-degree kinship identification was 0.466 2.Conclusion The application value of MHSeqTyper47 kit is relatively higher in the identification of lst-degree kinships.If jointly used with the GlobalFilerrM kit,2nd-degree kinship identification could be achieved in some cases.

Application of ITO Method in Determination of Special Half-Sibling Relationship / 法医学杂志

OBJECTIVES@#To identify whether the relationship between Zhang A, Zhang B, Zhang C and Zhang X is the half-sibling relationship whose mother is sister (hereinafter referred to as the special half-sibling relationship) or the common first cousin relationship and discuss the application of ITO method in discriminating the special kinship.@*METHODS@#DNA was extracted from blood stain of four identified individuals, PowerPlex® 21 System and AGCU 21+1 STR kit were used to detect autosomal STR genetic markers. Investigator® Argus X-12 QS kit was used to detect the X chromosome STR genetic markers, the special half-sibling index (SHSI) and first cousin index (FCI) and their likelihood ratio (LR) were calculated by ITO method.@*RESULTS@#The LR results of SHSI to FCI, which were calculated based on autosomal STR genotyping and the analysis of X-STR genotyping results suggested that the relationship between Zhang A, Zhang B, Zhang C and Zhang X was inclined to be a special half-sibling relationship.@*CONCLUSIONS@#For the identification of special kinship, it is necessary to comprehensively apply various genetic markers according to the case. After the conclusion that shared alleles cannot be excluded from the analysis, ITO method can be further used to establish discriminant assumptions according to the specific case to obtain objective and reliable identification opinions.

Utilidad del método clínico en el diagnóstico de algunos síndromes genéticos / Use fulness of the clinical method for diagnosing a group of clinical syndromes

Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)

Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(AU)

Patrón cutáneo pigmentario de disposición lineal en un niño, vitíligo segmentario vs. hipomelanosis de Ito / Linear disposition pigmentary skin pattern in a child, segmental vitiligo vs. Hypomelanosis of Ito

Introducción: algunas enfermedades dermatológicas siguen disposición con patrones lineales. Con hipopigmentación en la infancia se encuentran el vitíligo segmentario, que sigue los dermatomas, aunque puede seguir las líneas de Blaschko y la hipomelanosis de Ito, que a su vez sigue las líneas de Blaschko. Estas dermatosis son infrecuentes en la práctica dermatólogica. Objetivo: profundizar en los elementos diagnósticos que permiten diferenciar dos dermatosis clínicamente caracterizadas por hipopigmentación segmentaria lineal de tipo blaschkoide y el tratamiento. Presentación del caso: a la consulta de Genodermatosis en Las Tunas acude un niño con máculas acrómicas en hemicuerpo izquierdo, sin otras alteraciones. Después de ser evaluado por varias especialidades (Dermatología, Genética, Pediatría, Oftalmología y Neurología), se determina que solo presentaba afectación cutánea, se le realizó biopsia de piel, que corroboró el diagnóstico de vitíligo segmentario. Conclusiones: se presenta el caso porque el vitíligo segmentario es infrecuente, sigue un patrón lineal que puede ser diferenciado de otra dermatosis infrecuente, como la hipomelanosis de Ito, y en el tratamiento es importante brindar apoyo psicológico al paciente para favorecer la obtención de mejores resultados con la Melagenina Plus(AU)

Introduction: some dermatological diseases are still available with linear patterns. In childhood with hypopigmentation can be found segmental vitiligo (which follows the dermatomes although it can follow the lines of Blaschko), and Hypomelanosis of Ito (which in turn follows the lines of Blaschko). These dermatoses are infrequent in dermatological practice. Objective: to deepen into the diagnostic elements that allows the differentiation of two dermatoses clinically characterized by linear segmental hypopigmentation of blaschkoid type and treatment. Case presentation: a child attends to the consultation of Genodermatoses in Las Tunas presenting acromic macules in left half of the body, without other alterations. After being evaluated by several specialties (Dermatology, Genetics, Pediatrics, Ophthalmology and Neurology), it was determined that only skin affectation was present. A skin biopsy was performed, which corroborated the diagnosis of segmental vitiligo. Conclusions: The case is presented because segmental vitiligo is infrequent, it follows a linear pattern that can be differentiated from another uncommon dermatosis, such as Hypomelanosis of Ito, and in the treatment it is important to provide psychological support to the patient to favor obtaining better results with Melagenina Plus(AU)

Inhibitory effect of compound NS5806 on cardiac transient outward potassium channel dependents on interaction between auxiliary subunits / 中国药理学与毒理学杂志

OBJECTIVE Transient outward potassium current (Ito) plays a crucial role in cardiac phase 1 repolarization and the channels are assembled by pore-forming α-subunits (Kv4.2 or Kv4.3) and auxiliary subunits (KChIP2 and DPP6). Previous studies have found that the compound NS5806 increases Ito in canine ventricular cardiomyocytes through slowing current decay. Here, we reported that NS5806 produced an acute inhibitory action on Ito in mouse ventricular cardiomyocytes and human induced pluripotent stem cell-derived cardiomyocytes (hiPS-CM). METHODS Whole-cell patch-clamp was used to record Ito in native myocytes and in HEK cells expressing cloned Kv4.x/KChIP2/DPP6 channels; Western-blot detected the channel protein expression. RESULTS In isolated mouse ventricular cardiomyocytes, NS5806 (0.1-30 μmol·L-1) inhibited Ito in a concentration-dependent manner with IC50 of 6.6±1.9 μmol·L-1. The current decay was significantly accelerated with a time constant from 53.8±5.5 to 41.8±3.0 ms at +60 mV (P<0.01). Similarly, NS5806 concentration-dependently reduced the Ito peak current amplitude with an acceleration of current decay. In addition, NS5806 increased IKv4.2/KChIP2 and delayed current decay, but decreased IKv4.2/KChIP2/DPP6 with the acceleration of current decay. The inhibitory action on the current was more potent if DPP6 expression level was increased from Kv4.2/KChIP2/DPP61:1:1 to 1:1:3. Western-blot showed a higher expression of DPP6 protein in mouse heart and in hiPS- CM compared to canine heart. Moreover, specific knock- down DPP6 expression by siRNA antagonized the inhibitory action of NS5806 in hiPS-CM. Our results pointed to an important role of DPP6 subunit in the regulation of NS5806 on the channel. By using molecular docking simulation, five interaction sites with high possibility between KChIP2 and DPP6 were identified. Mutations of those sites changed the inhibitory action of NS58056 into excitatory effect on the current with the delay of current decay. CONCLUSION NS5806 significantly inhibits Ito by accelerating current decay in mouse cardiomyocytes and hiPS-CM. The effect depends on the interaction between DPP6 and KChIP2 subunits.

Hipomelanosis de ito en paciente de 15 meses / Hypomelanosis of Ito in a patient 15 months

La Hipomelanosis de Ito (HI) es un trastorno neurocutáneo poco prevalente en Chile y el mundo, caracterizado por lesiones hipopigmentadas que siguen las líneas de Blaschko y que se asocian principalmente a alteraciones del sistema nervioso central y/o musculoesqueléticas. Se origina como expresión de un mosaicismo inespecífico de las células pigmentarias, durante la embriogénesis. Se presenta el caso de un paciente masculino de 15 meses con lesiones hipopigmentadas características, retraso del desarrollo psicomotor, crisis convulsivas tónico ­ clónicas, microcefalia, hipotonía central severa e hipoacusia bilateral, retraso en el desarrollo dental y dismorfias faciales. Se realizó estudio, resultando sin alteraciones metabólicas, excepto por aumento progresivo de TSH (11,3 mUI/L), por lo cual se inicia tratamiento con levotiroxina. Con los hallazgos clínicos y resultados de laboratorio descritos se planteó diagnóstico de mosaicismo pigmentario, continuando estudio de forma ambulatoria. En cuanto al diagnóstico, se recomienda la utilización de los criterios de Ruiz-Maldonado que consideran la presencia de lesiones cutáneas asociado a un criterio mayor o dos menores para determinar el diagnóstico definitivo (Ver Tabla 1). La patología más importante a descartar, es la Incontinencia Pigmentaria, que se caracteriza por estar ligado exclusivamente al cromosoma X y evolución por etapas de las lesiones cutáneas en las líneas de Blaschko. En la actualidad la HI solo tiene tratamiento sintomático por cual es importante hacer un diagnóstico precoz para sobrellevar la patología adecuadamente.

Hypomelanosis of Ito (HI) is a rarely prevalent neurocutaneous disorder in Chile and the world, that is characterized by hypopigmented lesions following Blasko lines that are primarily asociated with Central Nervous Sistem and or musculoskeletal disorders. It origins as an expression of an inespecific mosaicisism of the pigmented cells during embriogénesis. We present a case of a 15 months pediatric male patient with characteristic hypopigmented lesions, delayed psychomotor development, tonic-clonic seizures, microcephaly, central hypotonia and bilateral hypoacusia, delayed dental development and facial dysmorphia. He was hospitalized for further studies resulting without metabolic disorders except for progressive enhancement of TSH (11,3 mUI/L), and thyroxine supplement was initiated. With the described clinical and laboratory findings we proposed the diagnosis of Pigmentary Mosaicism and continued ambulatory treatment. Regarding the diagnosis, given the low prevalence of this disease we recommend the use of Ruiz ­ Maldonado criteria wich considers the precense of cutaneous lesions associated with one mayor or two minor criteria for the definitive diagnosis previously discarding the more frecuent diseases. Speaking about the differential diagnosis the most important disease is Pigmentary Incontinence, characterized by its exclusive presentation in female patients and the phasic evolution of the cutaneous lesions in Blasko lines. Nowadays the IH has only sintomatic treatment wich is why its important to make an early diagnosis in order to endure adequately the disease.

A new method for establishing temperature gradient field in micro-channel on glass-PDMS microfluidic chip and for investigating thermal biological effect of cells / 军事医学

Objective To develop a new method for establishing a temperature gradient field in the microchannel on a glass-polydimethylsiloxane ( PDMS ) microfluidic chip and to verify its applicability in the study of cellular thermal biological effect.Methods The establishment and control of the temperature gradient field in the microchannel were implemented by a peripheral indium tin oxide ( ITO) heater and a heating micro-wire embedded in the PDMS chip.The temperature gradient field established in the microchannel was represented by the finite element numerical analysis and temperature-dependent fluorescent dye rhodamine B.Finally, the thermal biological effect, which used cell survival rate of human prostate cancer cells T24 as an indicator, was investigated in the microchannel.Results The results of finite element numerical analysis proved that this method established a temperature gradient field along the length of the microchannel successfully.The distribution range of the temperature gradient field was controlled by the ITO heater, while the gradient of the temperature gradient field was controlled by the heating micro-wire.The measurement result of rhodamine B was identical with the result of the finite element numerical analysis.The thermal biological effect of T24 tumor cell research showed that the cell survival rate decreased with the rise of the regional temperature in the microchannel.Conclusion The method developed in this paper for establishing a temperature gradient field in the microchannel on a glass-PDMS microfluidic chip is simple and easy to implement, and it can be used for parallel study of the cellular thermal biological effect on the microfluidic chip in the future.

A unique case of Ito syndrome presenting with Juvenile Myoclonic Epilepsy and normal intelligence

Background: Hypomelanosis of Ito is a neurocutaineous disease commonly associated with seizure and mental retardation. Case description: In this case report, we have found a unique coexistence of Hypomelanosis of Ito and Juvenile Myoclonic Epilepsy with normal intelligence. Discussion: The occurances of two genetically linked disease entities in a single individual arouse a possibility of some common genetic factors. Conclusion: The Juvenile myoclonic Epilepsy with normal intelligence can be a presenting feature in Hypomelanosis of ito. Key message: In contrary to common perception Hypomelanosis of ito can present with normal intelligence and the seizure type can be Juvenile myoclonic epilepsy as found in this case

Hypomelanosis of Ito

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with hemimegalencephaly, seizures and mental retardation along with the hitherto unreported repetitive hand movements such as seen in Rett syndrome.

Surgical Results of Modified Harada-Ito Operation for Excyclotorsion

PURPOSE: We evaluated the efficacy of the modified Harada-Ito operation for excyclotorsion in acquired superior oblique palsy patients after trauma. METHODS: This study represents a retrospective review of 10 eyes in 9 patients who were surgically treated for excyclotorsion. Cyclotorsion was measured with the double maddox-rod test and fundus photographies preoperatively and postoperatively. RESULTS: The median measured change in excyclotorsion before and after the surgery in the primary gaze was reduced from 15.67 +/- 6.00 to 4.78 +/- 3.42 according to fundus photographies and from 12.30 +/- 6.27 to 2.45 +/- 3.73 according to the double maddox-rod test. Subjective and objective changes in excyclotorsion werer not significantly different. CONCLUSIONS: The Modified Harada-Ito operation is an effective treatment for correcting excyclotorsion. Although not statistically significant, the amount of excyclotorsion on fundus photography is exaggerated. This point should be considered to achieve effective surgery.

Hipomelanosis de Ito. Presentación de un caso / Hypomelanosis of Ito. A case report

La hipomelanosis de ito, es un síndrome neurocutáneo con un grado de despigmentación dérmica variable y alteraciones del neurodesarrollo. Se realiza el examen físico-genético a un niño de dos años de edad, observando manchas hipocrómicas, así como otras dismorfias en la cara y el cráneo que se asocian con esta enfermedad, cuyo riesgo de recurrencia es bajo. Después de revisada la literatura médica se confirmó el diagnóstico de la afección para ofrecer adecuado asesoramiento genético a familias con personas afectadas.

Hypomelanosis of Ito is a Neurocutaneous Syndrome with a variable degree of dermal depigmentation and neurological disorders. A physical-genetic examination was performed to a two-year old boy presenting hypochromic stains, dysmorphias in face and skull associated with this condition which recurrence risk is low. After revising the medical literature the diagnosis was confirmed to offer the necessary genetic advice to families with patients suffering from this syndrome.

Alargamento unilateral dos espaços perivasculares observados à ressonância magnética em um caso de hipomelanose de Ito: qual o valor deste achado? / The unilateral enlargement of the perivascular spaces on magnetic resonance imaging in a case of hypomelanosis of Ito: which the value of this finding?

Hipomelanose de Ito é uma síndrome neurocutânea rara, ligada ao cromossomo X, de caráter dominante, caracterizada por manchas hipopigmentadas seguindo as linhas de Blaschko, dispostasem espirais e estrias, que estão presentes ao nascimento ou surgem nos primeiros meses de vida.O envolvimento cerebral é frequente e representado por retardo mental e convulsões. Anormalidadesmusculoesqueléticas, dentárias, cardíacas, gastrintestinais ou urinárias podem estar presentes.A avaliação por imagem é normal em até 25% dos casos, porém o alargamento dos espaçosperivasculares, dentre outras apresentações de imagem, pode estar presente. Assim sendo, o diagnóstico diferencial com patologias tumorais e não-tumorais deve ser estabelecido.

Hypomelanosis of Ito is a rare neurocutaneous syndrome, X-linked,dominant, characterized by hypopigmented lesions of skin alongthe Blaschko lines. Skin lesions usually are present at birth orappear early in life. The cerebral involvement is frequent and represented by mental retardation and seizures. Skeletal Muscleabnormalities, dental, cardiac, gastrointestinal or urinary may bepresent. The imaging evaluation is normal up to 25% of the casesbut the enlargement of perivascular spaces, among other imagespresentations, may be present, thus the differential diagnosis oftumor and non-tumor, should be established.

Análise da escrita de uma criança com Hipomelanose de ITO / Análisis de la escritura de un niño con Hipomelanose de ITO / Analysis of writing of a child with ITO's Hypomelanosis

A hipomelanose de Ito caracteriza-se por manchas hipossegmentadas decorrentes de uma rara alteração na mielinização que pode ocasionar seqüelas neurológicas como déficit cognitivo, macrocelafia e epilepsia. O objetivo deste trabalho é analisar as características da linguagem escrita de um sujeito portador dessa alteração. Para tanto, nosso estudo se pauta em uma abordagem que toma a linguagem como atividade constitutiva. O resultado de nossas análises demonstrou que a aquisição da escrita do sujeito dessa pesquisa coincide com o processo previsível de desenvolvimento da linguagem, apesar dos déficits neurológicos que ele apresenta.

Ito's hypomelanosis is characterized by hyposegmental spots caused by a rare alteration in the melanization that may cause neurological sequences such as cognitive deficiency, macrocephaly and epilepsy. Current analysis bases itself on the approach that considers language as a constitutive activity. Results show that the acquisition of the written language of the subject in current research coincides with the predictable development of the language process in spite of its neurological deficiencies.

An unusual case of naevus of Ota and Ito associated with port wine stain

Naevus of Ota is a dermal melanocytic pigmentary disorder that affects predominantly females. It occurs most frequently in Asian populations. Its association with naevus of Ito and a port wine stain is very rare. We report a rare occurrence of these three conditions in a male patient.

A Case of Hypomelanosis of Ito with Diploid/triploid Mosaicism / 대한피부과학회지

Hypomelanosis of Ito was first described by Ito in 1952 as incontinentia pigmenti achromians. The consistent feature of the disease is a characteristic cutaneous hypopigmentation following the lines of Blaschko, and associated extracutaneous manifestations include anomalies of the central nervous system, eye and musculoskeletal system. It is a sporadic condition and more than half of patients are found to have chromosomal abnormalities, such as mosaicism. It has been suggested that hypomelanosis of Ito is not a single condition, but rather a nonspecific manifestation of chromosomal mosaicism. We report a case of a 6 year-old girl with hypomelanosis of Ito with diploid/triploid mosaicism (46, XX/69, XXX). She did not show any other extracutaneous symptoms, except a mild developmental delay. Hypopigmented lesions showed a gradual improvement but new hyperpigmented, brownish macules developed within hypopigmented lesions without any treatment.

A Case of Acquired Dermal Melanocytosis showing the Manifestations of Bilateral Variant of Nevus of Ito / 대한피부과학회지

There are a number of pigmentation disorders due to dermal melanocytes, including Mongolian spot, nevus of Ota, nevus of Ito and blue nevus, which usually appear at birth or in early childhood. But, several types of acquired dermal melanocytosis which usually appear in adult have been reported. A 67-year-old woman presented with asymptomatic, multiple, symmetric, bluish macules on the upper back for 10 years. Histopathologic findings showed some scattered spindle-shaped cells containing melanin pigment in the upper dermis and these cells were positive for S-100 protein stain. We suggest this case may be an acquired and bilateral variant of nevus of Ito considering the relationship between the acquired bilateral nevus of Ota-like macules and nevus of Ota.

Effect of Thiopental on Transient Outward Current (Ito) and Inwardly Rectifying K+ Current (Ik1) in Rat Ventricular Myocytes / 대한마취과학회지

BACKGROUND: Patients with the long QT syndrome, either congenital or acquired, have an increased development of serious ventricular arrhythmia, Torsade de Pointes. Thiopental (5 mg/kg) has been reported to prolong the QTc interval in patients undergoing surgery with normal repolarization. Recent studies have indicated that the clinical concentration of thiopental prolonged the action potential duration (APD), which was attributed to inhibition of the delayed rectifier (Ik) and/or the inward rectifier (Ik1) at various animal myocardial preparations. The rat ventricular cells were used to study the contribution of transient outward current (Ito) and Ik1 because they possess a variety of K+channel subtypes including Ito and Ik1 with little or no Ik, similar to those of human ventricular myocytes. The effect on Ca2+ current (ICa,L), which can alter the K+ conductance, was also observed. METHODS: With approval of the animal research committee in Yonsei University Medical College, isolated ventricular cells were obtained from enzymatically treated rat hearts. The ICa,L was elicited from a holding potential of -40 mV to + 60 mV under the modified Tyrode solution. Ik1 was obtained from a holding potential of -40 mV before their membrane potential was changed from -130 to + 50 mV. Ito was recorded during depolarizing steps from -80 mV followed by inactivation of Na+current by short pulses to -40 mV and then depolarized with 10 mV increments to test potentials up to + 60 mV. ICa,L was blocked by adding 0.5 mM CdCl2 during measurement of Ito. Normal action potential was measured using conventional microelectrode technique. RESULTS: At membrane potential of +60 mV, 50microM thiopental caused modest depression of Ito to 82 +/- 1% of control. From the dose-response curve from 1 to 1000microM, the IC50 of thiopental was 163microM. While 50microM thiopental caused modest depression of Ik1 of 87 +/- 2% of control at a test potential of -130 mV, no depression was observed from -110 mV to + 50 mV. ICa,L was significantly reduced to 57 +/- 5% of control. The APD90 was prolonged by 76% following application of 50microM thiopental. CONCLUSIONS: Prolongation of APD induced by thiopental was associated with reduction of Ito. Considering the high current density of Ito in rat ventricular myocytes, inhibition of Ito seems to play a major role in thiopental-induced APD prolongation.

Surgical Results of Classic Harada-Ito Procedure with Intraoperative Adjustment for Excyclotorsion

PURPOSE: We evaluated the efficacy of classic Harada-Ito procedure with intraoperative adjustment for excyclotorsion. METHODS: This study represents a retrospective review of 22 patients surgically treated for the diagnosis of excyclotorsion with abnormal head posture between January 1995 and August 2001. Head tilt, facial asymmetry, diplopia and excyclotorsion were measured preoperatively and postoperatively. Intraoperative adjustment was made by observing the torsional position of the fundus with indirect ophthalmoscopy. Cyclotropia was measured with the Maddox double-rod test or fundus photography with the eyes in primary and down gaze. RESULTS: Causes of excyclotorsion were congenital (7 patients, 32%), trauma (11 patients, 50%)and idiopathic (4 patients, 18%). Of the 22 patients, 19 patients had a head tilt toward the nonparetic side and the others paretic side. Head tilt was uniformly eliminated in 19 of 22 patients (86%). Six of 22 patients had facial asymmertry. After surgical correction, facial asymmetry gradually disappeared in 2 congenital patients. Preoperatively fourteen of 22 patients had diplopia. Postoperatively, eighth of patients had no diplopia and the others had improved of the symptom except one case. The median measured value change of excyclotorsion before and after the surgery in the primary position was reduced from 7.2+/-5.2degrees to 1.7+/-2.8degrees (76%) and 5.3+/-2.2degrees to 0.4+/-1.1degrees in congenital patients, from 8.9+/- 6.6degrees to 1.5+/-2.6degrees in trauma and from 6.0+/-3.4degrees to 4.3+/-4.2degrees in idiopathic. In downgaze, the median measured value change from 10.9+/-5.3degrees to 2.9+/-3.3degrees (73%) and 7.0+/-3.9degrees to 1.1+/-3.0degrees in congenital patients, from 13.2+/-5.7degrees to 3.2+/-3.0degrees in trauma and from 11.5+/-1.0degrees to 5.0+/-4.1degrees in idiopathic. CONCLUSIONS: Intraoperative adjustable classic Harada-Ito procedure was an effective treatment in correcting head tilt, facial asymmetry and diplopia.

A Case of Bilateral Nevus of Ota Associated with Bilateral Nevus of Ito / 대한피부과학회지

Benign pigmented lesions derived from dermal melanocytes include the Mongolian spot, the nevi of Ota and Ito, and the blue nevus. The nevus of Ito differs from the nevus of Ota by its location in the supraclavicular, scapular and deltoid regions. It occurs rarely in association with bilateral nevus of Ota. We present a 70 years old male, showing extensive involvement of dermal melanocytic nevi, so called bilateral nevus of Ota associated with bilateral nevus of Ito.