• Clinical and Experimental Pediatrics
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• v.63 no.11
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• pp.415-421
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• 2020

Cryptorchidism or undescended testis is the single most common genitourinary disease in male neonates. In most cases, the testes will descend spontaneously by 3 months of age. If the testes do not descend by 6 months of age, the probability of spontaneous descent thereafter is low. About 1%-2% of boys older than 6 months have undescended testes after their early postnatal descent. In some cases, a testis vanishes in the abdomen or reascends after birth which was present in the scrotum at birth. An inguinal undescended testis is sometimes mistaken for an inguinal hernia. A surgical specialist referral is recommended if descent does not occur by 6 months, undescended testis is newly diagnosed after 6 months of age, or testicular torsion is suspected. International guidelines do not recommend ultrasonography or other diagnostic imaging because they cannot add diagnostic accuracy or change treatment. Routine hormonal therapy is not recommended for undescended testis due to a lack of evidence. Orchiopexy is recommended between 6 and 18 months at the latest to protect the fertility potential and decrease the risk of malignant changes. Patients with unilateral undescended testis have an infertility rate of up to 10%. This rate is even higher in patients with bilateral undescended testes, with intra-abdominal undescended testis, or who underwent delayed orchiopexy. Patients with undescended testis have a threefold increased risk of testicular cancer later in life compared to the general population. Self-examination after puberty is recommended to facilitate early cancer detection. A timely referral to a surgical specialist and timely surgical correction are the most important factors for decreasing infertility and testicular cancer rates.

• Advances in pediatric surgery
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• v.4 no.2
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• pp.110-116
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• 1998

This is a clinical review of 2,191 pediatric surgical patients under the age of 15 years, operated upon at the Division of Pediatric Surgery, Department of Surgery, Chonnam University Hospital from January 1988 to December 1997. The total number of operations in the pediatric age for all specialties were 13,144(13.2 %). The total operations including those performed on adults were 99,555. The most common age group operated upon was under 5 year of age(44.4 %). The number of operations in Division of General Pediatric Surgery were 2,191(16.7 %) out of total 13,144 operations in all pediatric specialties. The patients under 1 year of age in general pediatric surgery was 42.9 %(941/2,191). The most common diseases in neonates were anorectal malformation(20.6 %) and hypertrophic pyloric stenosis(20.3 %). Infants older than neonates most commonly were operated upon for inguinal hernia(32.4 %) and intussusception(19.6 %). The total mortality rate in the neonatal intensive care unit was 31.3 %. Gastroschisis had the highest mortality.

• Journal of Chest Surgery
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• v.29 no.1
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• pp.38-42
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• 1996

Intraabdominal complications after cardiac surgery are infrequent, but often fatal. From 1985 to 1993, a total of 1241 cardiovascular operations requiring cardiopulmonary by pass were performed at Pusan Paik Hospital. A total of 16 intraabdominal complications occurred, represe ting a 1.3% incidence. Complications included enterocolitis in six, hepatitis in three, gastric bleeding in two, erosive gastritis in one, cholecystitis in one, spleen rupture in one, epididymitis in one, inguinal hernia in one patient. The overall mortality rate was 12.5% (2 of 16). Three of the 16 patients underwent surgical intervention, and one died. We concluded that intraabdominal complications after cardiac surgery are associated with a high mortality rate, so when evidence of an acute abdominal symptom is observed or conservativi medical treatment fails to improve symptoms, prompt early surgical intervention should be performed.

• Clinical and Experimental Pediatrics
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• v.51 no.4
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• pp.435-438
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• 2008

The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder of the brain and spinal cord caused by a mutation of the DNA repair genes. We report on an 8-month-old girl with COFS syndrome who exhibited growth and developmental delay, hypotonia, microcephaly, nystagmus, cleft palate, widely separated nipples, inguinal hernia, camptodactyly, and rocker-bottom feet with vertical talus.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.23-26
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• 2016

Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, $CO_2$ laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.

• The Korean Journal of Nuclear Medicine
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• v.23 no.2
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• pp.231-236
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• 1989

Continuous ambulatory peritoneal dialysis (CAPD) is a well established method of treating end stage renal failure, and is commonly used as an alternative to hemodialysis. Several complications have been observed. These include catheter malfunction, abdominal and inguinal hernia, and peritonitis. A relatively frequent complication is swelling of external genitalia, due to bowel fluid passing through a patent processus vaginalis. Special diagnostic procedures are necessary to determine the nature of the abnormality and to guide the surgical correction. We reported two cases of patent processus vaginalis in patient on CAPD proved by radionuclide peritoneal scintiscan using Tc-99 m-tin colloid.

• Advances in pediatric surgery
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• v.19 no.1
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• pp.32-38
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• 2013

The purpose of this study is to analyze the early experience of the laparoscopic adhesiolysis for the intestinal obstruction due to postoperative adhesion. Seven patients were included in this study. The median age of those patients was 13, and there were 3 males and 4 females. Previous diagnosis and surgical procedure were various in seven cases, including small bowel resection with tapering enteroplasty, Boix-Ochoa fundoplication, Ladd's procedure with appendectomy, mesenteric tumor resection with small bowel anastomosis, ileocecal resection and anastomosis, primary gastric repair, and both high ligation. A successful laparoscopic adhesiolysis was performed in one who had high ligation for inguinal hernia and had a single band adhesion. Six out of 7 (86%) cases needed to convert open surgery due to multiple and dense type of adhesion. In conclusion, laparoscopic approach with postoperative small bowel adhesion seems safe. However, it might be prudently considered because of high rates of conversion in children.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Neonatal Medicine
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• v.25 no.1
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• pp.49-52
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• 2018

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.

• Journal of Preventive Medicine and Public Health
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• v.36 no.2
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• pp.147-152
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• 2003

Objectives : To develop a Diagnosis-Related Group (DRG) fraud candidate detection method, using data mining techniques, and to examine the efficiency of the developed method. Methods ; The Study included 79,790 DRGs and their related claims of 8 disease groups (Lens procedures, with or without, vitrectomy, tonsillectomy and/or adenoidectomy only, appendectomy, Cesarean section, vaginal delivery, anal and/or perianal procedures, inguinal and/or femoral hernia procedures, uterine and/or adnexa procedures for nonmalignancy), which were examined manually during a 32 months period. To construct an optimal prediction model, 38 variables were applied, and the correction rate and lift value of 3 models (decision tree, logistic regression, neural network) compared. The analyses were peformed separately by disease group. Results : The correction rates of the developed method, using data mining techniques, were 15.4 to 81.9%, according to disease groups, with an overall correction rate of 60.7%. The lift values were 1.9 to 7.3 according to disease groups, with an overall lift value of 4.1. Conclusions : The above findings suggested that the applying of data mining techniques is necessary to improve the efficiency of DRG fraud candidate detection.