Functional bladder disorders including overactive bladder and interstitial cystitis may induce problems in many other parts of our body such as brain and gut. In fact, diagnosis is often less accurate owing to their complex symptoms. To have correct diagnosis of these diseases, we need to understand the pathophysiology behind overlapped clinical presentation. First, we focused on reviewing literatures that have reported the link between bladder and brain, as the patients with bladder disorders frequently accompanied mood disorders such as depression and anxiety. Second, we reviewed literatures that have described the relationship between bladder and gut. There exist many evidences of patients who suffered from both bladder and intestinal diseases, such as irritable bowel syndrome and inflammatory bowel disease, at the same time. Furthermore, the interaction between brain and gut, well-known as brain-gut axis, might be a key factor that could change the activity of bladder and vice versa. For example, the affective disorders could alter the activity of efferent nerves or autonomic nervous system that modulate the gut itself and its microbiota, which might cause the destruction of homeostasis in bladder eventually. In this way, the communication between bladder and brain-gut axis might affect permeability, inflammation, as well as infectious etiology and dysbiosis in bladder diseases. In this review, we aimed to find an innovative insight of the pathophysiology in the functional bladder disorders, and we could provide a new understanding of the overlapped clinical presentation by elucidating the pathophysiology of functional bladder disorders.

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

Human hairs have been known to be easily contaminated with microorganisms. This study was performed in order to measure what bacterial species and how much microorganisms contaminate human hairs in specific place. Virgin human hairs were left at 6 positions in inside corner and beside window in a laboratory for 7 days. The number of viable bacterial cells, which were determined by most probable number method, contaminating the human hairs was measured at a maximum of 10(6)/g hair and a minimum of 10(3)/g hair in inside corner and maximum of 10(6)/g hair and a minimum of 10(3)/g hair beside window. The bacterial cells-contaminating human hairs were observed via fluorescence light microscopy after 4',6-diamino-2-phenylindole (DAPI) staining. The bacterial community contaminating human hairs was analyzed via the thermal gradient gel electrophoresis (TGGE) technique, based on the diversity of the 16S-rDNA variable region. In total, approximately 20 bacterial species were detected from 12 groups of hair samples. In this study, general experimental methods-fluorescence staining, TGGE and MPN-were combined to develop new method for observation and estimation of bacteria contaminating human hairs.
Bacteria ; Electrophoresis ; Fluorescence ; Hair ; Humans ; Hypogonadism ; Light ; Microscopy ; Mitochondrial Diseases ; Ophthalmoplegia

Human hairs have been known to be easily contaminated with microorganisms. This study was performed in order to measure what bacterial species and how much microorganisms contaminate human hairs in specific place. Virgin human hairs were left at 6 positions in inside corner and beside window in a laboratory for 7 days. The number of viable bacterial cells, which were determined by most probable number method, contaminating the human hairs was measured at a maximum of 10(6)/g hair and a minimum of 10(3)/g hair in inside corner and maximum of 10(6)/g hair and a minimum of 10(3)/g hair beside window. The bacterial cells-contaminating human hairs were observed via fluorescence light microscopy after 4',6-diamino-2-phenylindole (DAPI) staining. The bacterial community contaminating human hairs was analyzed via the thermal gradient gel electrophoresis (TGGE) technique, based on the diversity of the 16S-rDNA variable region. In total, approximately 20 bacterial species were detected from 12 groups of hair samples. In this study, general experimental methods-fluorescence staining, TGGE and MPN-were combined to develop new method for observation and estimation of bacteria contaminating human hairs.
Bacteria ; Electrophoresis ; Fluorescence ; Hair ; Humans ; Hypogonadism ; Light ; Microscopy ; Mitochondrial Diseases ; Ophthalmoplegia

PURPOSE: To report the accuracy of intraocular lens (IOL) formulas according to axial length, anterior chamber depth, and mean corneal curvature when performing biometry with an immersion type A-scan with mannual keratomery and an IOL Master®. METHODS: Retrospective medical chart reviews were carried out for 82 eyes of 65 patients who underwent cataract surgery performed by a single surgeon. Biometry was performed using IOL Master®, mannual keratometry, and immersion type A-scan ultrasound in sequence. Prediction diopter was obtained using Sanders-Retzlaff-Kraff/Theoretical (SRK-T) and Holladay 1 formulas calculated with the biometric value measured by mannual keratomery and A-scan, and using SRK-T and, Holladay 2 formulas with IOL Master®. The final refractive outcome was determined as manifested refraction at least 7 weeks after the surgery, and it was compared with the preoperative prediction dipoter (D) of the IOL formulas. RESULTS: Mean axial length and mean keratomtric measurements as determined by A-scan with mannual keratomery showed significant statistical differences from those of IOL Master®. However, there was no difference in postoperative mean absolute error between biometric measurements, or among formulas according to axial length, anterior chamber depth, or mean corneal curvature. However, the percentage of actual refraction within ±0.50 D of the intended refraction was dirrerent among the four formalas according to axial length, anterior chamber dept, mean corneal curvature. CONCLUSIONS: Biometry measurement using the immersion-type A-scan with mannual keratomery is as accurate as that using IOL Master® for predicting the postoperative refractive state of cataract surgery. However, it is suggested that the best IOL formula be chosen according to axial length, anterior chamber depth, and mean corneal curvature.
Anterior Chamber ; Biometry ; Cataract ; Humans ; Immersion ; Interferometry* ; Lenses, Intraocular* ; Retrospective Studies ; Ultrasonography*

PURPOSE: The prevalence of reflux esophagitis (RE) has increased recently in Korea. Little is known concerning the prevalence and characteristics of RE in pediatric patients. This study investigated the prevalence and influence of risk factors in endoscopically proven RE in Korea in pediatric patients over a period of 14 years. METHODS: A retrospective chart review of all patients between the ages of 1 month and 20 years who underwent esophagogastroduodenoscopy at Samsung Medical Center between 2001 and 2014 was carried out. Univariate and multivariate analyses were conducted to identify independent risk factors for RE. RESULTS: The prevalence rate of endoscopically proven RE in this study was 28.7% (978/3,413). The prevalence of RE increased from 11.8% from 2001 to 2007 to 37.7% from 2008 to 2014. Multivariate logistic regression analysis revealed that residency in the Greater Gangnam area (odds ratio [OR], 1.21; 95% confidence interval [CI], 1.02-1.44) and age (OR, 1.13; 95% CI, 1.11-1.15) were significant predictive factors for the presence of RE. CONCLUSION: The prevalence rate of endoscopically proven pediatric RE has increased over the past 14 years. Residency and older age are more important independent risk factors for pediatric RE in Korea.
Child* ; Endoscopy ; Endoscopy, Digestive System ; Esophagitis, Peptic* ; Gastroesophageal Reflux ; Humans ; Internship and Residency ; Korea* ; Logistic Models ; Multivariate Analysis ; Pediatrics ; Prevalence* ; Retrospective Studies ; Risk Factors

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

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.