Bromidrosis is a disorder characterized by rancid body odor which influences a patient's social life and mental health. The therapeutic modalities and the mechanism of bromidrosis have been carefully studied, however, there have been few reports about the genetic inheritance of bromidrosis. We investigated the family history of 42 patients who were operated on for bromidrosis and followed up to the third generation in 10 cases. The results were as follows: Results of investigation which were followed up the second generation. The fathers of five patients and the mothers of 11 patients had bromidrosis in 18 male patients. The fathers of six patients and the mothers of 12 patients had bromidrosis in 24 female patients. Thirty-four patient (81.0%) among a total of 42 have a single parent with bromidrosis. Result of investigation which were followed up to the third generation Bromidrosis was occurred in 17 of 42 patients (40.5%) in the second generation, and 18 of 27 patients (66.7%) in the third generation. In one case, a father transmitted bromidrosis to his three sons, and as a result, X-linked inheritance could be ruled out Bromidrosis was not skipped in every generation of all families. We on conclude that bromidrosis is an autosomal dominant inherited disorder.
Fathers ; Female ; Genes, X-Linked ; Humans ; Male ; Mental Health ; Mothers ; Odors ; Single Parent ; Wills*

No abstract available.
Female ; Pregnancy ; Pregnancy, Ectopic*

No abstract available.
Female ; Pregnancy ; Pregnancy, Ectopic*

No abstract available.
Axis, Cervical Vertebra* ; Spondylolysis*

No abstract available.
Desmin* ; Intermediate Filament Proteins* ; Intermediate Filaments* ; Muscle, Skeletal* ; Muscular Diseases* ; Sciatic Nerve* ; Vimentin*

No abstract available.
Child* ; Humans

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.
Anal Canal ; Animals ; Anus, Imperforate ; Cats ; Diagnosis, Differential ; Ear ; Embryonic Development ; Eye Abnormalities ; Family Characteristics ; Female ; Goldenhar Syndrome ; Hearing Loss, Sensorineural ; Humans ; Mothers ; Physical Examination ; Polydactyly ; Pregnancy ; Thumb ; Transcription Factors

Purpose: Although Mycoplasma pneumoniae (M. pneumoniae) infection can cause wheezing in non-asthmatic children, the mechanisms of this symptom remain unclear. Vascular endothelial growth factor (VEGF) is a major mediator of angiogenesis and vascular permeability, and is also known to be elevated in cases of chronic pulmonary disease such as asthma. We hypothesized that VEGF may increase in children with acute M. pneumoniae pneumonia and wheezing. Methods: Nine patients with clinical and laboratory evidence of acute M. pneumoniae pneumonia were enlisted from children admitted to Korea University Hospital. They had had more than one episode of wheezing during the illness, which was confirmed by a physician; they comprised the wheezer group. The individuals with M. pneumoniae pneumonia without wheezing were 63 in number, and they comprised the non-wheezer group. Patients with a history of asthma or who had received asthma medications were excluded. Serum concentrations of VEGF, total IgE, eosinophil cationic protein (ECP), and peripheral blood eosinophil counts were measured. Results: The serum VEGF concentrations were higher in the wheezer group (mean+/-SD; 650.2+/-417.9 pg/mL) than in the non-wheezer group (376.5+/-356.2 pg/mL, P=0.049). M. pneumoniae antibody (1:1,380 vs. 1:596, P=0.048) and serum total IgE (591.8 IU/mL vs. 162.2 IU/mL, P=0.032) were higher in the wheezer group than in the non-wheezer group. There were no differences between the two groups in terms of serum ECP concentration or blood eosinophil count. Conclusion: In the presence of wheezing, serum VEGF concentrations were higher in the children with M. pneumoniae pneumonia. This finding suggests that VEGF may associate with wheeze-related symptoms in children with acute M. pneumoniae pneumonia.
Asthma ; Capillary Permeability ; Child ; Eosinophil Cationic Protein ; Eosinophils ; Humans ; Immunoglobulin E ; Korea ; Lung Diseases ; Mycoplasma ; Mycoplasma pneumoniae ; Pneumonia ; Pneumonia, Mycoplasma ; Respiratory Sounds ; Vascular Endothelial Growth Factor A

BACKGROUND: The transrectal ultrasound-guided prostate biopsy (TRUS-PBx) is one of the most common procedures among day care center based urologic procedures. Our aim was to determine if pretreatment with meperidine could improve the quality of anesthesia in patients undergoing deep sedation for TRUS-PBx. METHODS: Sixty male patients (30–80 years; American Society of Anesthesiologists physical status class I or II) scheduled for TRUS-PBx were allocated randomly into two groups. After pretreatment with normal saline (Group C) or intravenous (i.v.) meperidine 0.5 mg/kg (Group M), sedation was induced with i.v. propofol 1.5 mg/kg. Additional doses of i.v. propofol 0.5 mg/kg were administered upon patient movement. During the procedure, hemodynamic variables, patient movement, and the bispectral index were measured. After the procedure, the mean modified observer's assessment of alertness/sedation score (MOASS), postprocedural pain, side effects, and patient satisfaction were evaluated. RESULTS: During the procedure, patient movement was not significantly different between the two groups, but Group M required a significantly lower total propofol dose compared to that of Group C (P = 0.036). After the procedure, the MOASS was comparable between the two groups (P = 0.055), but Group M patients experienced significantly less postprocedural pain (P = 0.012), lower systolic and diastolic blood pressure at 45 (P = 0.044 and P = 0.014) and 60 minutes (P < 0.001 and P = 0.006), and lower incidence of tenesmus than Group C (P = 0.020). CONCLUSIONS: Meperidine can be used as a safe, effective analgesic with deep sedation for patients undergoing TRUS-PBx.
Anesthesia ; Biopsy* ; Blood Pressure ; Day Care, Medical ; Deep Sedation* ; Double-Blind Method* ; Hemodynamics ; Humans ; Incidence ; Male ; Meperidine* ; Patient Satisfaction ; Propofol ; Prostate*