PURPOSE: It is well known that fungi become predominant microorganisms in the urine of patients with long-term Foley catheters. This study was conducted to evaluate the lengths of time for fungi to cause urinary tract infection (UTI) and to identify predictors of fungal UTI in burn patients with long-term Foley catheters. MATERIALS AND METHODS: A total of 93 patients who did not have infection at the time of admission but later had fugal UTI were evaluated. Urinalysis, urine culture, and Foley catheter indwelling were done at admission. All patients were administered prophylactic antibiotics from admission. Urine cultures were run every week, and catheters were changed every 2 weeks for each patient. RESULTS: Three of the 93 patients (3.2%) displayed fungal UTI at the 1st week of catheter indwelling. However, most patients (78.5%) displayed fungal UTI from 2nd to 5th week after catheter indwelling. The most prevalent fungus identified was Candida tropicalis (60.2%). By univariate logistic regression analysis, only the total body surface area burned (TBSAB) was predictive of fungal UTI in burn patients (p=0.010). By multivariate logistic regression analysis, underlying disease (p=0.032) and TBSAB (p=0.036) were predictors of fungal UTI. Patients with higher TBSAB were more likely to display shorter intervals from Foley catheterization to fungal UTI. CONCLUSIONS: Fungal UTI was initially found at the 1st week of urinary catheter indwelling, but the majority of cases occurred after the 1st week and appeared earlier in patients with underlying disease or higher TBSAB. Underlying disease and TBSAB were predictors of early fungal UTI.
Anti-Bacterial Agents ; Body Surface Area ; Burns ; Candida tropicalis ; Catheters ; Fungi ; Humans ; Logistic Models ; Urinalysis ; Urinary Catheterization ; Urinary Catheters ; Urinary Tract ; Urinary Tract Infections

We report a 13-year-old girl with Graves disease, who showed an increased level of serum creatine kinase (CK) accompanied by myalgia after methimazole (MMI) treatment. This patient developed muscular pain two weeks after MMI administration, along with increased CK levels. The level of thyroid hormone was within the normal range when she showed increased CK levels. After the MMI dose was decreased and levo-thyroxine was added, serum CK levels decreased to normal and the myalgia improved. The pathophysiologic mechanism of this effect has not yet been elucidated. An acute relatively hypothyroid state occurs secondary to antithyroid drug (ATD) administration in chronic hyperthyroidism, which may cause changes in the CK levels. In this report, we present a rare pediatric case, along with a literature review of similar cases. In the initial state of MMI treatment, myalgia should be detected and when it occurs, CK levels should be measured. The clinical strategy of monitoring CK levels with the aim of normalizing thyroid hormones is helpful in case of the development of adverse reactions, such as myalgia, during ATD treatment for Graves disease in children.
Adolescent* ; Antithyroid Agents ; Child ; Creatine Kinase* ; Female ; Graves Disease* ; Humans ; Hyperthyroidism ; Methimazole* ; Myalgia ; Reference Values ; Thyroid Gland ; Thyroid Hormones

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. She underwent ventilation tube insertion for recurrent otitis media with effusion. Brain magnetic resonance imaging showed an ectopic posterior pituitary gland and a shallow, small sella turcica with poor visualization of the pituitary stalk. Cytogenetic and chromosomal microarray analysis revealed a de novo deletion on the short arm of chromosome 18 (arr 18p11.32p11.21[136,227–15,099,116]x1). She has been treated with recombinant human growth hormone (GH) therapy since the age of 6 months after diagnosis of GH deficiency. Her growth rate has improved without any side effects from the GH treatment. This case expands the phenotypic spectrum of 18p deletion syndrome and emphasizes the positive impact of GH therapy on linear growth in this syndrome characterized by growth deficiency. Further studies are required to define the genotype-phenotype correlation according to size and loci of the deletion in 18p deletion syndrome and to predict prognosis.
Arm ; Brain ; Child, Preschool ; Chromosomes, Human, Pair 18 ; Cytogenetics ; Diagnosis ; Ear ; Female ; Genetic Association Studies ; Growth Hormone ; Holoprosencephaly ; Human Growth Hormone ; Humans ; Intellectual Disability ; Magnetic Resonance Imaging ; Microarray Analysis ; Microcephaly ; Neck ; Otitis Media with Effusion ; Pituitary Gland ; Pituitary Gland, Posterior ; Prognosis ; Sella Turcica ; Ventilation

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously. The patient exhibited the characteristic facial appearance (a flat nasal bridge, deep-set eyes, arched eyebrows, and a thin upper lip), developmental delay, mild mental retardation, peripheral nerve palsy, and Albright hereditary osteodystrophy (AHO)-like phenotypes (short stature and brachydactyly). Conventional chromosomal analysis results were normal; however, microarray-based comparative genomic hybridization revealed terminal deletion at 2q37.1q37.3. In addition, the patient was confirmed to have partial growth hormone (GH) deficiency and had shown a significant increase in growth rate after substitutive GH therapy. Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the presence of facial dysmorphism. When patients are suspected of having a 2q37 deletion, high-resolution cytogenetic analysis is recommended.
Autism Spectrum Disorder ; Brachydactyly ; Cardiomyopathy, Dilated ; Chromosome Disorders ; Comparative Genomic Hybridization ; Cytogenetic Analysis* ; Cytogenetics* ; Deoxycytidine Monophosphate ; Diagnosis, Differential ; Eyebrows ; Growth Hormone ; Heart ; Humans ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Paralysis ; Peripheral Nerves ; Phenotype ; Toes

PURPOSE: In the present study, the etiological trends in male central precocious puberty (CPP) were examined, and annual distribution was evaluated. METHODS: Seventy-one male CPP subjects who started puberty before 9 years of age were included in this study. All individuals were diagnosed as having CPP at Samsung Medical Center between 2001 and 2016. Chronological age at puberty onset, diagnosis of CPP, bone age, weight (kg), height (cm), puberty stage, brain magnetic resonance imaging findings, testosterone level, basal gonadotropin level, and gonadotropin level after gonadotropin releasing hormone stimulation were analyzed. RESULTS: The 71 patients were divided into 2 groups: idiopathic (group I) and organic (group II) when the lesion was identified as associated with the central nervous system (CNS) or when the patient received chemotherapy for non-CNS tumors before CPP diagnosis, respectively. Forty-four cases (62%) were idiopathic, and 27 (38%) were organic. The proportion of idiopathic CPP was higher than that of organic CPP during the study period. In 51.9% of organic cases, puberty started before 8 years of age, whereas it started after that age in 93.2% of the idiopathic cases. CONCLUSIONS: In the present study, among all male CPP cases, 62% were idiopathic. The probability of idiopathic CPP prevalence was higher in males when the puberty onset was after 8 years of age with no history of cranial radiotherapy or chemotherapy.
Adolescent ; Brain ; Central Nervous System ; Diagnosis ; Drug Therapy ; Gonadotropin-Releasing Hormone ; Gonadotropins ; Humans ; Magnetic Resonance Imaging ; Male* ; Prevalence ; Puberty ; Puberty, Precocious* ; Radiotherapy ; Testosterone

Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel–de Vries syndrome.

Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel–de Vries syndrome.

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed according to a clinical scoring system; however, the clinical diagnosis is confirmed with molecular testing, and the disease is stratified into the specific molecular subtypes. SRS is a genetically heterogeneous condition. The major molecular changes are hypomethylation of imprinting control region 1 in 11p15.5 and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Therefore, first-line molecular testing should include methylation-specific approaches for these regions. Here, we report an extremely low birth weight (ELBW) infant with intrauterine growth retardation, postnatal growth retardation, and dysmorphic facial appearance—characteristics consistent with the clinical diagnostic criteria of SRS. Methylation-specific molecular genetic analysis revealed UPD(7)mat, while the loss of heterozygosity was not detected on chromosomal microarray analysis. We present a case of SRS with suspected uniparental heterodisomy of chromosome 7 in an ELBW infant.

Primary testicular lymphoma account for 1~5% of all testicular neoplasms. The majority of these tumors are diffuse large B-cell non-Hodgkin lymphoma. Primary NK/T cell lymphoma of the testis is a rare entity. Regardless of treatment, the majority of these patients have exhibited a highly aggressive clinical course and they have died within 1 year because of early dissemination. We report here on a case of the aggressive 'nasal type' natural killer (NK)/T cell lymphoma that initially presented as a testicular tumor. A 63-year-old man presented with painless left testicular swelling, and so a left orchiectomy was performed. A biopsy specimen of the testis revealed an extranodal NK/T cell lymphoma of the nasal type. In-situ hybridization for Epstein-Barr virus proved positive. The patient received systemic chemotherapy with 3 courses of a combination regimen.
B-Lymphocytes ; Biopsy ; Chimera ; Herpesvirus 4, Human ; Humans ; Lymphoma ; Lymphoma, Non-Hodgkin ; Middle Aged ; Orchiectomy ; Testicular Neoplasms ; Testis

Sometimes, TRAM flap only is not enough to accomplish symmetric breast reconstruction. Although many secondary procedures have been used to obtain symmetry, only a few studies have been performed to validate the result of fat grafting after TRAM flap breast reconstruction. From January 2004 to July 2008, 96 patients who underwent fat grafting after TRAM breast reconstruction were reviewed. The fat grafting was performed after 6 months following breast reconstruction. Assessments were retrospectively carried out according to the breast reconstruction type, injection volume, injected area, donor site, and complications. Immediate breast reconstruction cases were 92 out of 96 cases, and rest of them was cases of delayed reconstruction. Mean injected volume was 31.7 cc(3-113.5cc). Recipient sites were upper medial and lateral quadrants(85.4%) in 82 cases, upper medial quadrant in 5 cases, all four quadrants in 3 cases and lateral upper quadrant in 2 cases. Any specific complication such as fat embolism, infection, fat necrosis and skin necrosis was not noticed. We obtained a satisfying result in every case without any specific complication. Therefore, fat grafting can be one of the useful options to match the contour of reconstructed breast after TRAM flap reconstruction