• Journal of Sasang Constitutional Medicine
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• v.26 no.2
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• pp.156-164
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• 2014

Objectives The purpose of this study was to analyze the Sasang constitution and psychological traits of amyotrophic lateral sclerosis (ALS) patients and to utilize the results in treatment and management. Methods The differences of Sasang Constitution distribution, psychological characteristics, comorbid disorders between ALS group of 26 patients and general group of 1132 persons were investigated and analyzed. Results There was no significant different distribution of Sasang Constitution between ALS group and general group but there was Yang-like personality tendency in ALS group than general group. In overall constitution, ALS group had the high prevalence rate of musculoskeletal disorders and diabetes than general group. In Soyangin constitution, ALS group had a high prevalence rate of musculoskeletal disorders than genral group. In Taeeumin constitution, ALS group had a high prevalence rate of diabetes and hypertension than general group. Conclusion ALS patients have the Yang-like personality. It is due to the adaptation of personality on the environmental change or coping strategy on diseases rather than the characteristics of congenital Sasang Constitution.

• Journal of Korean Foot and Ankle Society
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• v.11 no.2
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• pp.244-247
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• 2007

Cause of flexible flat foot is predominantly idiopathic but pediatric flexible flatfoot is typically congenital. Neuromuscular disorders, tarsal coalition and prehallux are possible causes and there has been a controversy for diagnosis and surgical treatment guideline. Therefore we present 11-year old male with prehallux and flexible flat foot who was treated with Kidner procedure and subtalar arthroereisis using Kalix endoprothesis and reported good clinical outcome at 2-years follow up postoperatively.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.32-36
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• 2008

Congenital neutropenia or Kostmann syndrome is an inherited disorder manifesting in infancy and characterized by severe bacterial infections. The myelodysplastic syndromes(MDS) are a group of stem cell disorders characterized by a reduction in one or more elements of the peripheral blood. This paper reports a case of Kostmann syndrome and MDS with oral complications such as generalized gingivitis and periodontitis, oral mucosal ulcer, petechiae. The features of these syndromes are reviewed and their oral manifestations and significance to dental management outlined.

• Neonatal Medicine
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• v.16 no.1
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• pp.81-84
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• 2009

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.

• Journal of Chest Surgery
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• v.33 no.3
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• pp.257-261
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• 2000

Pulmonary arteriovenous fistula can occur in a variety of clinical situations including liver diseases, infections, metastatic carcinomas, systemic disorders, and after the palliation of congenital heart diseases. A 72-day-old male infant with Tetralogy of Fallot and pulmonary atresia underwent surgical correction without difficulty. However, ventilator weaning in the ICU failed initially because of an unexplained postoperative hypoxemia(FiO2: 0.8, PaO2: 40 mmHg, SaO2: 80∼90%). Postoperative follow-up lung perfusin scan at postoperative 15 days showed right-to-left shunt(33.6%) and ventilator weaning was performed on the 20th day after the operation (FiO2: 0.4, PaO2, 50mmHg, SaO2: 86.9%). Arterial oxygen saturation under room air was 80∼85% at 7 months postoperatively. One and half year follow-up lung perfusion scan showed decreased amount of right-to-left shunt (11.2%). We report a case with a review of the literatures.

• Proceedings of the Korean Society of Veterinary Clinics Conference
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• 2009.04a
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• pp.127-133
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• 2009

Cardiomyopathies were previously defined as "an idiopathic myocardial disease that is not secondary to any other type of congenital/acquired heart disease or systemic diseases." With increasing understanding of etiology and pathogenesis in human medicine, the difference between cardiomyopathy and specific heart muscle disease has become indistinct. Cardiomyopathies are now classified by the dominant pathophysiology or, if possible, by etiological/pathogenetic factors. The American Heart Association recently advocated the following new definition of cardiomyopathy: Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are due to a variety of causes that frequently are genetic. Cardiomyopathies either are confined to the heart or are part of generalized systemic disorders, often leading to cardiovascular death or progressive heart failure-related disability. Because the understanding of etiology or pathogenesis of cardiomyopathy has been limited in veterinary medicine, the previous classification is generally used. It is considered a dilated, hypertrophic and restrictive group on the basis of the predominant morphological and functional abnormalities. In addition, arrhythmogenic right ventricular cardiomyopathy and unclassified cardiomyopathy were also recognized in dogs and/or cats.

• The Journal of Advanced Prosthodontics
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• v.4 no.4
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• pp.239-242
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• 2012

Overlay complete dentures are simple, reversible and economical treatment modality for patients with congenital or acquired disorders that severely affect the tooth development. It satisfies both the esthetic and functional demands where the extraction of teeth is not generally indicated. In pediatric patients, the overlay dentures establish a relatively stable occlusion that improves patient's tolerance to the future treatment procedures for worn dentition. This clinical report highlights the imperative need of appropriate treatment strategy and application of maxillary and mandibular overlay dentures in a pediatric patient who suffered from congenitally mutilated and worn dentition.

• Archives of Craniofacial Surgery
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• v.20 no.5
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• pp.314-318
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• 2019

Macroglossia is a rare clinical condition defined as an enlarged tongue. Macroglossia can cause structural deformities like diastema and disproportionate mandibular growth and present functional disorders such as dysarthria, dysphonia, and respiratory problems. A 7-year-old boy who had lymphangiomatous macroglossia was treated with a reduction glossectomy by anchor-shaped combination of a U-shape and modified key-hole resection. Postoperatively, the reduced tongue was contained completely within the oral cavity, but open bite remained due to prognathism. Sensory and motor nerves to the tongue appeared to be intact, and circulation was adequate. This patient will be monitored for recurrence of tongue enlargement.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.108-111
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• 2020

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

• Childhood Kidney Diseases
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• v.28 no.1
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• pp.1-7
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• 2024

Antenatally diagnosed urinary tract dilatation (UTD), previously referred to as antenatal hydronephrosis, is the most commonly detected abnormality by prenatal ultrasonography. Several grading systems have been developed for the classification of antenatal UTD using prenatal and postnatal ultrasonography. UTD comprises a wide variety of congenital abnormalities of the kidney and urinary tract ranging from transient UTD to more significant abnormalities such as vesicoureteral reflux, ureteropelvic junction obstruction, ureterocele, ureterovesical junction obstruction, posterior urethral valves, and non-refluxing megaureter. Optimizing the evaluation of antenatally detected UTD is essential to recognize children with important disorders while avoiding excessive investigations. Conservative approach with close follow-up is increasingly accepted as an appropriate treatment option for patients with asymptomatic vesicoureteral reflux and ureteropelvic junction obstruction in recent years. However, predicting permanent kidney damage in an unselected group of children with antenatal UTD is still challenging. The management and follow-up of children with UTD should be individualized based on recommendations from a pediatric nephrologist, a pediatric urologist, or both. Future research directed at predicting long-term outcomes of children diagnosed with UTD from mild findings to severe disease is needed to refine management for those at higher risk of kidney disease progression.