BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease of cornification which presents as severe thickening of the palms and soles with prominent epidermolytic hyperkeratosis pathologically. Recent studies have shown that EPPK is caused by mutations in the keratin 9 (K9) gene which is expressed essentially only in the palms and soles. Previously, We have reported that patients in one large pedigree of EPPK have an R162W substitution in the K9 protein. In this pedigree, two women whose husbands are both EPPK patients had become pregnant. OBJECTIVE: Since both women were concerned about this genetic disorder, we have performed prenatal diagnosis by biopsy analysis of chorionic villi tissue. METHODS: Chorionic villi biopsies were performed at 12 weeks gestation. Since the skin lesions are strictly confined to the palms and soles of the babies, the prenatal diagnosis of EPPK by ultrastructural analysis of fetal skin biopsy or amniotic fluid cells is highly problematic. Polymerase chain reaction amplification of specific allele (PASA) assay and direct DNA sequencing analyses were performed whether the fetuses carried mutant allele of K9 gene. RESULTS: PASA assay and direct DNA sequencing analyses showed that one fetus was normal, but the other fetus carried the abnormal allele. Subsequently, the mother of the unaffected fetus delivered a normal child, but the mother of the affected fetus terminated the pregnancy. CONCLUSION: We describe the analysis of the K9 mutation in the two fetuses at risk for EPPK. We believe that this is the first report of prenatal diagnosis for EPPK. But, we have to think about the ethical problems before we decide to perform the prenatal diagnosis of any kind of skin diseases.
Alleles ; Amniotic Fluid ; Biopsy ; Child ; Chorionic Villi ; Chorionic Villi Sampling ; Female ; Fetus ; Humans ; Hyperkeratosis, Epidermolytic ; Keratin-9 ; Keratoderma, Palmoplantar, Epidermolytic* ; Mothers ; Pedigree* ; Polymerase Chain Reaction ; Pregnancy* ; Prenatal Diagnosis* ; Sequence Analysis, DNA ; Skin ; Skin Diseases ; Spouses

From May 1989 to March 1994, 6 patients(2 men and 4 women, mean age 63.5 years[range 57 to 69]) with ventricular septal defect after acute myocardial infarction(MI) were seen at Catholic Medical center. The clinical features were as follows : 1) Neck vein engorgement, hepatomegaly and rale on lung auscultation were noted in 5 patients. 2) The acute MI was anterior in 5 patients and posterior in 1 patients. 3) The sites of rupture were apex in 4 patients, among 5 anterior wall MI patients. 4) Pansystolic murmur was heard on left lower precordial area in all patients. 5) Only 1 patient had a history of typical angina. 6) All VSDs occurred during patients's first heart attack. 7) All patients developed VSDs within 7 days after the onset of chest patin. 8)Among 4 patients who underwent coronary angiogram, 3 patients had multivessel coronary artery disease. 9) 2 patients who underwent operation survived but 4 patients who received only medical treatment expired. 10) The time interval from chest pain to death was 14.7 days(range 6 to 27).
Auscultation ; Chest Pain ; Coronary Artery Disease ; Female ; Heart ; Heart Septal Defects, Ventricular* ; Hepatomegaly ; Humans ; Lung ; Male ; Myocardial Infarction* ; Neck ; Respiratory Sounds ; Rupture ; Thorax ; Veins

OBJECTIVE: To evaluate demographic characteristics of children with suspected dysphagia who underwent videofluoroscopic swallowing study (VFSS) and to identify factors related to penetration or aspiration. METHODS: Medical records of 352 children (197 boys, 155 girls) with suspected dysphagia who were referred for VFSS were reviewed retrospectively. Clinical characteristics and VFSS findings were analyzed using univariate and multivariate analyses. RESULTS: Almost half of the subjects (n=175, 49%) were under 24 months of age with 62 subjects (18%) born prematurely. The most common condition associated with suspected dysphagia was central nervous system (CNS) disease. Seizure was the most common CNS disorder in children of 6 months old or younger. Brain tumor was the most important one for school-age children. Aspiration symptoms or signs were the major cause of referral for VFSS in children except for infants of 6 months old or where half of the subjects showed poor oral intake. Penetration or aspiration was observed in 206 of 352 children (59%). Subjects under two years of age who were born prematurely at less than 34 weeks of gestation were significantly (p=0.026) more likely to show penetration or aspiration. Subjects with congenital disorder with swallow-related anatomical abnormalities had a higher percentage of penetration or aspiration with marginal statistical significance (p=0.074). Multivariate logistic regression analysis revealed that age under 24 months and an unclear etiology for dysphagia were factors associated with penetration or aspiration. CONCLUSION: Subjects with dysphagia in age group under 24 months with preterm history and unclear etiology for dysphagia may require VFSS. The most common condition associated with dysphagia in children was CNS disease.
Brain Neoplasms ; Central Nervous System ; Central Nervous System Diseases ; Child* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Deglutition Disorders ; Deglutition* ; Fluoroscopy ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Logistic Models ; Medical Records ; Multivariate Analysis ; Pediatrics ; Pneumonia, Aspiration ; Pregnancy ; Referral and Consultation ; Retrospective Studies ; Seizures

The aim of this study was to develop evidence-based recommendations for determining the surgical extent in patients with locally invasive differentiated thyroid cancer (DTC). Locally invasive DTC with gross extrathyroidal extension invading surrounding anatomical structures may lead to several functional deficits and poor oncological outcomes. At present, the optimal extent of surgery in locally invasive DTC remains a matter of debate, and there are no adequate guidelines. On October 8, 2021, four experts searched the PubMed, Embase, and Cochrane Library databases; the identified papers were reviewed by 39 experts in thyroid and head and neck surgery. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach was used to assess the quality of evidence, and to develop and report recommendations. The strength of a recommendation reflects the confidence of a guideline panel that the desirable effects of an intervention outweigh any undesirable effects, across all patients for whom the recommendation is applicable. After completing the draft guidelines, Delphi questionnaires were completed by members of the Korean Society of Head and Neck Surgery. Twenty-seven evidence-based recommendations were made for several factors, including the preoperative workup; surgical extent of thyroidectomy; surgery for cancer invading the strap muscles, recurrent laryngeal nerve, laryngeal framework, trachea, or esophagus; and surgery for patients with central and lateral cervical lymph node involvement. Evidence-based guidelines were devised to help clinicians make safer and more efficient clinical decisions for the optimal surgical treatment of patients with locally invasive DTC.