• Clinical and Experimental Pediatrics
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• 제53권12호
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• pp.1022-1025
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• 2010

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the $FGFR3$ gene. We confirmed by detection of a R248C mutation in the $FGFR3$ gene in DNA analysis.

• The Journal of Korean Physical Therapy
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• 제14권4호
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• pp.367-384
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• 2002

Cerebral palsy refers to the neuromuscular deficit caused by nonprogressive defect or lesion in single or multiple locations in the immature brain resulting in Impaired motor function and sensory integrity. The pathophysiological events may occur during the prenatal intrapartum, perinatal, or early postnatal period. Cerebral palsy is the most common condition and it poses a challenge to practitioners due to the large variation in prognosis for motor function of children with this diagnosis. The objectives of this article are review to pathological and psychological factors of cerebral palsy and upper extremity function. Upper extremity and hand function are most important in activity of daily living in cerebral palsy This article hope to give the information for application in many therapists.

• Clinical and Experimental Pediatrics
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• 제45권7호
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• pp.928-932
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• 2002

저자들은 재태 연령 $38^{+6}$주에 태아 심초음파 검사에 의해 태아 심방 조동이 발견되어 산모에게 digoxin을 투여하였으나 효과가 없어 제왕 절개술을 통해 분만한 후, digoxin, 전기적 심율동 전환에 의해서도 치료되지 않아 propafenone을 복용하여 정상 동율동으로 회복된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 보험의학회지
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• 제2권1호
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• pp.260-266
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• 1985

Pregancy is a part of women's life and is common process experienced by most women. On the other hand, a few cannot be pregnant. There are many reasons of infertility and myoma uteri of pelvic mass is a rare reason of infertility. Complication of pregnancy accompanied with myoma uteri is largely affected by the size or location of mass and the incidence by myoma uteri in pregnancy rarely happened, but mass with long pedunculus causes torsion as uterus is getting bigger. In labor myoma uteri causes the abnormal condition of fetal presentation and results in the abnormal childbirth. In case of myoma uteri, maternal mortality is low and there by medical hazards also decrease, but as the life insurance medical is the extensive prediction science, we believe that the prediction of perinatal or the condition of afterbirth by knowing the location, size of myoma uteri contributes to the medical examination. We experienced one case of Elderly primigravida with myoma uteri in Med Dept of Dae Han Kyouk life Insurance Co. Ltd. which the insured with medical examination believe herself as menopause. So we report the observations with studies.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권2호
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• pp.83-95
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• 2016

Hepatitis C virus (HCV) infection is a major medical challenge affecting around 200 million people worldwide. The main site of HCV replication is the hepatocytes of the liver. HCV is a positive enveloped RNA virus from the flaviviridae family. Six major HCV genotypes are implicated in the human infection. In developed countries the children are infected mainly through vertical transmission during deliveries, while in developing countries it is still due to horizontal transmission from adults. Minimal nonspecific and brief symptoms are initially found in approximately 15% of children. Acute and chronic HCV infection is diagnosed through the recognition of HCV RNA. The main objective for treatment of chronic HCV is to convert detected HCV viremia to below the detection limit. Children with chronic HCV infection are usually asymptomatic and rarely develop severe liver damage. Therefore, the benefits from current therapies, pegylated-Interferon plus ribavirin, must be weighed against their adverse effects. This combined treatment offers a 50-90% chance of clearing HCV infection according to several studies and on different HCV genotype. Recent direct acting antiviral (DAA) drugs which are well established for adults have not yet been approved for children and young adults below 18 years. The most important field for the prevention of HCV infection in children would be the prevention of perinatal and parenteral transmission. There are areas of focus for new lines of research in pediatric HCV-related disease that can be addressed in the near future.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.105-110
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• 2016

Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation allele, especially from the mother. A mother with myotonic dystrophy could be subfertile and the pregnancy could be complicated with the risk of a preterm birth. Newborns with CMD may demonstrate symptoms such as hypotonia and poor motor activity, as well as respiratory and feeding difficulties. Additionally, CMD has a high mortality rate at birth. Detection of the signs and symptoms during pregnancy is helpful for a prenatal diagnosis of CMD in cases where the family history is not known.

• Child Health Nursing Research
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• 제29권2호
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• pp.101-110
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• 2023

Purpose: Developmental disabilities (DDs) are a global childhood problem whose prevalence is rising, with a disproportionate impact on individuals in low-and middle-income countries. However, data on the prevalence of DDs in the Arab world are limited. This review highlights what is currently known about the prevalence and risk factors of DDs in preschool children in the Arab world. Methods: PubMed, Cochrane Library, Scopus, CINAHL, Science Direct, and Google Scholar were searched for publications on DDs among preschool children in the Arab world. Only 14 studies were identified in the literature, from 12 Arab countries. Results: The overall estimated prevalence of DDs among preschool children in the Arab world is 27.5%. An analysis of risk factors for DDs showed that child-related, maternal, and family-related factors account for a significant cumulative risk of developing DDs in preschool children. Maternal factors, such as antenatal and perinatal complications, were the most common risk factors. Conclusion: The prevalence of DDs among preschoolers is significantly high in the Arab world, which emphasizes the importance of the early detection and diagnosis of DD, as well as its associated risk factors.

• Clinical and Experimental Pediatrics
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• 제58권8호
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• pp.288-293
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• 2015

Purpose: In this study, we aimed to review the clinical presentation of preterm infants with gastrointestinal perforations and compare the clinical features of gastric perforation with other intestinal perforations. Methods: The medical records of preterm neonates with pneumoperitoneum, admitted to the neonatal intensive care unit (NICU) between January 1994 and December 2013, were retrospectively reviewed. Results: Twenty-one preterm infants underwent exploratory laparotomy to investigate the cause of the pneumoperitoneum. The sample consisted of five patients (23.8%) with gastric perforation and 16 patients (76.2%) with intestinal perforation. No statistical differences were found in the birth history and other perinatal factors between the two groups. Underlying necrotizing enterocolitis, bilious vomiting, and paralytic ileus preceding the perforation were statistically more common in the intestinal perforation group. All preterm infants with gastric perforation survived to discharge; however, six preterm infants with intestinal perforation expired during treatment in the NICU. In the gastric perforation group, sudden pneumoperitoneum was the most common finding, and the mean age at diagnosis was $4.4{\pm}1.7days$ of life. The location and size of the perforations varied, and simple closure or partial gastrectomy was performed. Conclusion: Patients with gastric perforation did not have a common clinical finding preceding the perforation diagnosis. Although mortality in previous studies was high, all patients survived to discharge in the present study. When a preterm infant aged less than one week presents with sudden abdominal distension and pneumoperitoneum, gastric perforation should first be excluded. Prompt exploratory laparotomy will increase the survival rates of these infants.

• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.30-34
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• 2016

Purpose: Although Bednar's aphthae are common and regress spontaneously, these lesions may lead to feeding intolerance and are often misdiagnosed, rendering examinations useless. This study sheds new light on the clinical features of Bednar's aphthae. Methods: Sixteen neonates and infants were newly diagnosed with Bednar's aphthae via routine health check-ups in an outpatient clinic. Medical records were retrospectively reviewed, and the following parameters were analyzed; sex, gestational age, birth weight, mode of delivery, and perinatal problems. A physical examination was carried out during the next outpatient visit to examine the healing process and check for the existence of scars or complications. Results: Initial presentation included changes in feeding habits (n=10), longer feeding time, reduced intake, and increased irritability. In 6 patients, Bednar's aphthae were discovered incidentally, without prior symptoms. Feeding posture and method of feeding are important causes of Bednar's aphthae. Eleven patients were fed in a horizontal position, whereas 5 patients were fed in a semiseated position. Fifteen patients were bottle-fed, whereas 1 patient was exclusively breastfed. After correcting the feeding position, the ulcerative lesions disappeared within 1 month of diagnosis. During the follow-up period, lesions did not recur in any of the patients. Conclusion: This study suggests that Bednar's aphthae are caused by mechanical pressure. A diagnosis of Bednar's aphthae should be considered when lesions are found on the palate of infants and when symptoms seem to be feeding related. Proper education of parents can both treat Bednar's aphthae and easily prevent its recurrence.

• Clinical and Experimental Reproductive Medicine
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• 제38권2호
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• pp.109-114
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• 2011

Peritoneal pregnancy is an implantation in the peritoneal cavity exclusive of tubal, ovarian, or intra-ligamentary implantations. This is a rare obstetric complication with high maternal mortality and even higher perinatal mortality, and secondary type was most common. Risk factors for peritoneal pregnancy are previous history of extrauterine pregnancy or tubal surgery pelvic post-inflammatory status or presence of an intrauterine device. As it is a life-threatening condition, expectant management carries a risk of sudden life-threatening intra-abdominal bleeding and a generally poor fetal prognosis. So, when it is recognized, immediate termination of pregnancy is usually recommended. Early diagnosis of peritoneal pregnancy is difficult, but is important by their life threatening progress course to patients. Recently, we experienced primary peritoneal pregnancy which meets both the original and modified criteria. In this paper, we reported the case of early diagnosed and successfully treated peritoneal pregnancy despite of their diagnosis was incidentally.