Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.
Arm ; Autopsy ; Birth Weight ; Chromosomes, Human, Pair 4 ; Comparative Genomic Hybridization ; Fathers ; Fetal Growth Retardation ; Fetus ; Foot ; Gestational Age ; Hernia, Diaphragmatic ; Humans ; Karyotype ; Karyotyping ; Lung ; Male ; Mothers ; Neck ; Ultrasonography, Prenatal ; Wolf-Hirschhorn Syndrome

BACKGROUND: Whether the changes of risk factors (hypertension, diabetes mellitus, smoking, alcohol) can precipitate stroke remains unknown, and antecedent infection and psychologic stress are described insufficiently as predisposing risk factors for cerebral infarction. Therefore, we attempted to examine the roles of recent infection, psychologic stress, and the changes of risk factors as potential precipitants in each stroke subtypes. We also tested the temporal relationship between preceding exposure to coldness and stroke onset. METHODS: In this case-control study, 113 consecutive patients with acute cerebrovascular disease (38 small vessel disease, 43 large vessel disease, 11 cardiogenic infarction, 4 infarction of undetermined cause, and 17 intracerebral hemorrhage) and 23 control subjects were evaluated. Changes of the risk factors (and their management) were interviewed. A sign/symptom based questionnaire was used to characterize the prevalence of recent prior infection and exposure to coldness. Psychologic stress was measured with the use of Social Readjustment Rating Scale. RESULTS: The negative change of alcohol drinking was significantly higher in the stroke group. However, there was no significant difference between stroke and control groups in the changes of the other risk factors. The prevalence of previous (within 1 month) infection was significantly higher in the stroke group compared with control subjects (p=0.03). However, there were no significant differences among the stroke subtypes in the prevalence of infection(p=0.08). Upper respiratory tract infections constituted the most common type of infection. The exposure to coldness was significantly higher in the stroke group compared with control subjects (p=0.002). The level of stress within the prior 1 month/1 year was significantly higher in the stroke group than control group (p=0.01). CONCLUSION: Our data suggest that preceding infection, exposure to coldness, psychologic stress, and the negative change of alcohol drinking may be com.
Alcohol Drinking ; Case-Control Studies ; Cerebral Infarction ; Diabetes Mellitus ; Humans ; Infarction ; Prevalence ; Surveys and Questionnaires ; Respiratory Tract Infections ; Risk Factors* ; Smoke ; Smoking ; Stress, Psychological* ; Stroke*

Heterotopic pregnancy is the coexistency of intrauterine and extrauterine pregnancy. The incidence of heterotopic pregnancy is about 1 to 30,000 pregnancy in a natural cycle. However, the frequency of heterotopic pregnancy has steadily increased because of rising incidence of pelvic inflammatory disease, pelvic surgery and the development of ovulation induction and assisted reproduction. Because heterotopic pregnancy is difficult to diagnose and it has high morbidity and mortality rate, one should always take this into consideration and should conduct careful and thorough gynecologic evaluation. We have experienced a case of heterotopic pregnancy in a 29-year old woman who presented with acute abdominal pain in a natural cycle and report this case with a brief review of literature.
Abdominal Pain ; Adult ; Female ; Humans ; Incidence ; Mortality ; Ovulation Induction ; Pelvic Inflammatory Disease ; Pregnancy ; Pregnancy, Heterotopic* ; Reproduction

No abstract available.
Child* ; Humans ; Infant* ; Intussusception*

BACKGROUND: Patients with Parkinson's disease (PD) experience various types of sleep disturbances, and exhibit multiple risk factors for sleep disturbances. However, few studies have considered the demographic and psychosocial factors related to sleep disturbances in Korean PD patients. This study investigated the characteristics of sleep disturbance and related factors, including demographic and psychosocial factors, in Korean PD patients. METHODS: A population of 181 PD patients was studied; all agreed to be interviewed using structured questionnaires. RESULTS: The Parkinson's Disease Sleep Scale (PDSS) score was not correlated with sex, age, educational level, marital status, household income, or the presence of religion, a job, or a hobby. With regard to psychosocial factors, the PDSS score was positively correlated with the Self-Esteem Score and the Social Support Score. The PDSS score was negatively correlated with the Parkinson Fatigue Scale score, the pain score, the Beck Depression Index, and the Spielberger Anxiety Score. On stepwise multiple regression analysis, the most significant factors contributing to low PDSS scores were severe anxiety, a shorter duration of levodopa therapy, severe fatigue, and a higher daily levodopa dosage, in that order. CONCLUSIONS: Sleep disturbance in PD patients was significantly associated with anxiety, fatigue, and daily levodopa dosage, suggesting that these factors should be carefully managed in PD patients.
Anxiety ; Depression ; Family Characteristics ; Fatigue ; Hobbies ; Humans ; Levodopa ; Marital Status ; Parkinson Disease* ; Psychology ; Surveys and Questionnaires ; Risk Factors

No abstract available.
Bacteria* ; Ulsan*

No abstract available.
Child* ; Cough* ; Humans ; Maxillary Sinus* ; Maxillary Sinusitis*

No abstract available.
Humans

No abstract available.
Child* ; Humans ; Urinary Tract Infections* ; Urinary Tract*

No abstract available.
Child* ; Humans ; Urinary Tract Infections* ; Urinary Tract*