• 대한물리의학회지
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• 제4권3호
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• pp.149-156
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• 2009

Purpose：The hamstring muscle has an important role in standing, walking and other functions related to daily living. Most people with Cerebral Palsy(CP) have muscle tightness, especially in the hamstring, which may cause abnormal alignment in the lower extremities. To investigate an effective treatment for hamstring muscle tightness by observing the effects of heat pack or Soft tissue mobilization(STM) on hamstring muscles. Methods：Thirteen-two volunteers with CP aged between 9 and 13 years($M\pmSD$: $11\pm1.46$), were recruited and divided into four groups of four: (1) the STM for people with Spastic CP group, (2) the heat pack(HP) for people with Spastic CP group, (3) the STM for people with Mixd CP group, and (4) the heat pack for people with Mixed CP group. All received treatment three times per week for six weeks. A inclinometer was used to measure for hip flexion & knee extension joint range motion(ROM). Results：The ROM of hip flexion & knee extension were improved at the STM and HP for people with Spastic CP groups. The ROM and hip flexion were improved at the STM and HP for people with Mixed CP groups. The amount of increase ROM are differenced by the types of CP. Conculusion：STM and heat pack, both are effective for people with CP especially for Spastic CP.

• Annals of Pediatric Endocrinology and Metabolism
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• 제23권4호
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• pp.220-225
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• 2018

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent $M{\ddot{u}}llerian$ duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.

• Clinical and Experimental Pediatrics
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• 제48권5호
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• pp.461-468
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• 2005

The major function of immune system is to protect infections. The immune systems are composed of innate and adaptive immunity. In adaptive immunity, the cellular and humoral components interact each other. Neonates and infants are infected frequently, because immune systems are naive and easy to expose to infectious agents. The complete history and physical examination is essential to evaluate the child with recurrent infections. The environmental risk factors of recurrent infections are day care center, cigarette smoke, and air pollution. The underlying diseases such as immunodeficiency, autoimmune diseases, allergy, and disorders of anatomy or physiology increase the susceptibility to infections. In immunodeficiency, infections are characterized by severe, chronic, recurrent, and unusual microbial agents infection. The defects of antibody production are susceptible to sinopulmonary bacterial infections. T cells defects are vulerable to numerous organisms such as virus, fungi, bacteria and etc. The screening tests for immune functions are the quantitative and qualitative measurements of each immune components. A complete blood count with white blood cell, differential, and platelet provide quantitative informations of immune components. Total complement and immunoglobulin levels represent the humoral component. Antibody levels of previously injected vaccines also provide informations of the antigen specific antibody immune responses. T cell and subsets count is quantitative measurement of cell mediated immunity. Delayed hypersensitivity skin test is a crude measurement of T cell function. The long term outcome of children with recurrent infections is completely dependent on the underlying diseases, the initial time of diagnosis and therapy, continued management, and genetic counscelling.

• Clinical and Experimental Pediatrics
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• 제54권4호
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• pp.179-182
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• 2011

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM. Herein, we present the case of a male child with TNDM whose mutational analysis revealed a heterozygous c.3547C>T substitution in the ABCC8 gene, leading to an Arg1183Trp mutation in the SUR1 protein. The parents were clinically unaffected and did not show a mutation in the ABCC8 gene. This is the first case of a de novo ABCC8 gene mutation in a Korean patient with TNDM. The patient was initially treated with insulin and successfully switched to sulfonylurea therapy at 14 months of age. Remission of diabetes had occurred at the age of 16 months. Currently, the patient is 21 months old and is euglycemic without any insulin or oral hypoglycemic agents. His growth and physical development are normal, and there are no delays in achieving neurological and developmental milestones.

• Clinical and Experimental Pediatrics
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• 제53권2호
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• pp.235-238
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• 2010

파브리병은 알파-갈락토시다아제(alpha galactosidase) A 효소에 위치하는 유전자 변이에 의한 글라이코스핑고리피드(glycospingolipid) 대사이상에 의한 질환으로 X-염색체와 연관된다. 말단 지각이상을 호소하던 12세 남자 환자와 증상이 미미한 그의 형에서 알파-갈락토시다아제 A 효소 활성도 측정과 유전자 변이 확인을 통하여 파브리병을 확진한 2례를 보고하고자 한다.

• 대한유전성대사질환학회지
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• 제15권3호
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• pp.160-164
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• 2015

Hunter syndrome(Mucopolysaccharidosis type II, MPS type II) is an X-linked disorder of glycosaminoglycans (GAGs) metabolism caused by an iduronate-2-sulfatase (IDS2) deficiency. A 24-month-old boy visited the department of pediatrics with the chief compliant of chronic purulent rhinorrhea beginning at age one. He had a history of repeated acute otitis media and chronic rhinitis. On physical examination he had a coarse face, enlarged tongue, distended abdomen, joint stiffness, and Mongolian spots at his first visit. The urine GAGs level was elevated at 66.10 mg/mmolCr (reference range, <11.1) and iduronate-2-sulfatase activity in leukocyte was decreased at 0.21 nmol/mg protein/hr (reference range, 18.7-57). Finally with an IDS gene mutational analysis, recombinant known mutation between intron 7 and distal of exon 3 in IDS2 was detected. Recombinant iduronate-2-sulfatase therapy was started without any infusion related reactions. The author highlights the importance of suspecting Hunter syndrome when pediatric patients visit with chronic purulent rhinorrhea which is a common cause of hospital visits for infants and children.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제48권3호
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• pp.133-148
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• 2022

Treatment of mandibular coronoid process hyperplasia (MCPH) has been described and explored in the literature. This systematic review aims to provide a comprehensive overview of the surgical and non-surgical treatment options for MCPH in pediatric and adult populations. Three databases were searched for treatment of MCPH patients (MEDLINE, Embase, and Web of Science). Two reviewers selected case reports and case series based on titles and abstracts. Finally, 55 studies reporting a total of 127 cases were included for qualitative synthesis and data extraction. The mean age at symptom onset was 15.6 years, while the mean age at diagnosis was 23.5 years. Of the included cases, 83.7% were male, and the condition was bilateral in more than 81% of the cases. Coronoidectomy was performed in 82.7% of the included cases, while coronoidotomy was performed in 3.9% of the cases. In 85.0% of the surgically treated cases, the approach was intraoral. The mean maximal intraoperative mouth opening was 38.1 mm compared with 16.5 mm at diagnosis. The mean maximal postoperative mouth opening was 35.3 mm, and the mean follow-up period was 16.3 months. Maximum mouth opening was achieved intraoperatively, and non-surgical treatment after surgery aims to reduce the risk of relapse. Additional research with a higher level of evidence is necessary to confirm these findings.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.161-164
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• 2016

Guillain-$Barr{\acute{e}}$ syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength of the lower extremities and deep tendon reflexes. MRI could not be carried out due to technical problems; therefore, both Guillain-$Barr{\acute{e}}$ syndrome and acute transverse myelitis were considered for the diagnosis. Intravenous immunoglobulin treatment was started as first line therapy. Because this treatment did not relieve the patient's symptoms, spinal MRI was carried out on the fourth day of admission and demyelinating areas were identified. Based on the new findings, the patient was diagnosed with acute transverse myelitis, and high dose intravenous methylprednisolone therapy was started. Electromyography findings were consistent with acute polyneuropathy affecting both motor and sensory fibers. Therefore, the patient was diagnosed with concurrency of Guillain-$Barr{\acute{e}}$ syndrome and acute transverse myelitis. Interestingly, while concurrency of these 2 disorders is rare, this association has been demonstrated in various recent publications. Progress in diagnostic tests (magnetic resonance imaging and electrophysiological examination studies) has enabled clinicians to establish the right diagnosis. The possibility of concurrent Guillain-$Barr{\acute{e}}$ syndrome and acute transverse myelitis should be considered if recovery takes longer than anticipated.

• 한국융합학회논문지
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• 제9권2호
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• pp.91-99
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• 2018

본 연구에서는 뇌성경직양측마비 아동을 대상으로 융합적인 자세교정치료가 근강직도(muscle stiffness) 및 근활성도(muscle activity)에 미치는 단기적인 영향을 알아보고자 하였다. 연구 대상자는 4세부터 7세의 뇌성경직양측마비 아동 3명(남자2, 여자1)을 대상으로 하였다. 측정부위는 위등세모근, 배곧은근, 큰볼기근이며, 근강직도 측정기(Myoton)와 표면 근전도(EMG)를 이용하여 근강직도와 근활성도를 측정하였으며, 양측 대칭성에 대해서도 알아보았다. 연구결과, 보상작용이 심했던 아동들이 융합적 자세교정 치료 중재 후 전반적으로 위등세모근과 배곧은근에서 근강직도와 근활성도가 감소하였고, 큰볼기근에서는 증가하는 경향을 보였다. 특히 해당 근육에서 왼쪽과 오른쪽의 대칭성이 줄어드는 특성을 보였다. 본 연구에서는 몇 가지 제한점에도 불구하고 융합적인 자세교정치료가 뇌성경직양측마비 아동의 자세교정 측면에서 긍정적인 효과가 있음을 보여 주었다.

• Childhood Kidney Diseases
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• 제22권2호
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• pp.52-57
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• 2018

Purpose: Rhabdomyolysis is a metabolic disorder in which the content of damaged muscle cells is released into plasma. Its manifestations include asymptomatic, myalgia, gross hematuria, and complications of acute kidney injury. Because of limited data on rhabdomyolysis in children, we performed this study to determine clinical characteristics of rhabdomyolysis in children. Methods: We retrospectively reviewed the records of patients with rhabdomyolysis who were treated at the Pusan National University Children's hospital from January 2011 to July 2016. The diagnostic criteria were serum myoglobin level of ${\geq}80ng/mL$, exclusive of acute myocardial injury, cardiac arrest, and brain damage. Results: Forty-five patients were enrolled; mean age, $116{\pm}68$ months. Of these, 35 were boys and 10 were girls. Twenty-six patients experienced myalgia and 12 patients showed gross hematuria. Among these, seven patients initially had both myalgia and gross hematuria. The most common causes of rhabdomyolysis were infection, physical exertion, prolonged seizures, metabolic abnormalities, and drug addiction. Acute kidney injury (AKI) was the most common complication, followed by disseminated intravascular coagulation. Thirty-seven patients improved with sufficient fluid supply but two patients underwent hemodialysis due to deterioration of kidney function. Gross hematuria, positive occult blood test, and positive urine protein were more common in patients with AKI than in those without AKI. Conclusions: In children, infection was the most common cause of rhabdomyolysis. Most patients recovered by sufficient fluid therapy. However, in severe cases, especially in patients with underlying kidney disease, hemodialysis may be necessary in the present study.