Pfeiffer syndrome, an unusual type of acrocephalosyndactyly, is a complex of associated malformations, first described by Pfeiffer in 1964. In addition to the common head and face anomalies seen in other acrocephalosyndactylies, its characteristics are broad thumbs and big toes, minimal syndactyly and normal intelligence. It is inherited in autosomal dominant pattern and shows various clinical features. The author's case was a 7-year old boy, who had been managed since birth for bilateral congenital resistant clubfeet including cast correction for six months and two operations. At present he represents not only the common features described above but also some unique features, e.g. pectus excavatum, posterior dislocation of both elbows, mild genu valgum, metatarsus adductus and complex malalignment of carpal and tarsal bones. To our knowledge, there is no report on Pfeiffer syndrome in Korea. The authors report a case of Pfeiffer syndrome with review of literatures.
Acrocephalosyndactylia ; Dislocations ; Elbow ; Funnel Chest ; Genu Valgum ; Head ; Humans ; Intelligence ; Korea ; Male ; Metatarsus ; Parturition ; Syndactyly ; Tarsal Bones ; Thumb ; Toes

Ilizarov device is a circular external skeletal fixator with crossed transfixation wires and connecting rods. Its stability depends on the tension in the wire and the spatial orientation of the fixator frame. It provides extreme versatility for correction of three dimensional complex deformities including angulation, rotation, shortening and translation. In an attempt to identify the various factors that contributed to the outcome and the complications of lengthening, we reviewed the first 19 cases of leg lengthening by the Ilizarov technique in 17 patients with leg length inequality or dwarfism. Simultaneous correction of the three dimensional deformities was also aimed at in 13 patients, and osteosynthesis of congenital pseudarthrosis of the tibia in 2 patients. Follow-up periods averaged 1.6 years, ranging from 1 year to 2.8 years. The results were summarized as follows : 1. The amount of lengthening averaged 5.2cm, ranging from 2.0cm to 9.8cm. 2. The percentage increase was 27%, ranging from 9% to 58%. 3. The average healing index (month/cm) was 1.3months/cm and it was higher in the groups that had premature consolidation, complete osteotomy, single level corticotomy and neurologic compromise as compared with the groups that had adequate corticotomy, double level corticotomy and no neurologic complication. 4. The desired lengthening was obtained in 14 cases. Simultaneous correction of the deformities and osteosynthesis for nonunion were also achieved satisfactorily during lengthening. 5. There were sixteen cases of problems (84%), which were pin tract inflammation (7 cases), Transient senrory change (3 cases), knee joint flexion contracture (2 cases), nut breakage (2 cases). There were thirteen cases of obstacles (68%), which were equinus deformity(5 cases), premature consolidation (3 cases), pathologic fracture (3 cases), and delayed consolidation (2 cases). There was only one ture complication case. In conclusion, the Ilizarov technique was very effective for leg lengthening in children, particularly when three dimensional deformities were combined with leg length shortening. But a thorough knowledge of the Ilizarov technique and meticulous care during lengthening are mandatory to prevent the pitfalls and complications.
Child ; Congenital Abnormalities ; Contracture ; Dwarfism ; Follow-Up Studies ; Fractures, Spontaneous ; Humans ; Ilizarov Technique ; Inflammation ; Knee Joint ; Leg Length Inequality ; Leg ; Nuts ; Osteotomy ; Pseudarthrosis ; Tibia

The Machado Joseph disease(MJD) is a progressive neurodegenerative disease with an autosomal dominant inheritance. Patients affected by MJD may present variable combinations of cerebellar ataxia, ophthalmoplegia, pyramidal tract signs, extrapyramidal signs, and peripheral neuropathy. Once, MJD was thought to be limited to the Portuguese from Azores islands, However, since the association of expanded CAG trinucleotide repeat in chromosome 14q32.1 was identified in the MJD, the genetic study has enabled clinicians to make accurate diagnosis and the patients with MJD have been reported in the families from many different races. We report members of a family, presenting with variable combinations of gait ataxia, dysarthria, ophthalmoplegia, pyramidal and extrapyramidal signs. We performed a genetic study in 3 clinically affected and 4 asymptomatic family members. Five of the seven had abnormally expanded CAG repeat number (range 71-84) on the long arm of chromosome 14, compatible with MJD.
Arm ; Azores ; Cerebellar Ataxia ; Chromosomes, Human, Pair 14 ; Continental Population Groups ; Diagnosis ; Dysarthria ; Gait Ataxia ; Humans ; Islands ; Machado-Joseph Disease* ; Neurodegenerative Diseases ; Ophthalmoplegia ; Peripheral Nervous System Diseases ; Pyramidal Tracts ; Trinucleotide Repeats ; Wills

No abstract available.
Metatarsal Bones* ; Osteogenesis, Distraction*

The history of emerging infectious diseases was recently reawakened with the SARS outbreak in 2003 that resulted in 8,098 cases and 774 deaths in 26 countries. Korea dealt with 20 suspect or probable cases. From this experience of managing SARS, the public health system has been reinforced and the system's flexibility improved. The Korea Centers for Diseases Control and Prevention (KCDC) was inaugurated in January 2004 as a technically advanced and leading national organization. Thanks to SARS, multiple related Ministries and Agencies realized the need for their involvement in the case of global and national public health threat. The joint WHO/OIE/FAO consultation that was held in May 2004 in Geneva agreed that the next candidateemerging infectious disease that would affect global public health as seriously as SARS would almost certainly originate from animal infection (zoonosis) and that the most probable disease would be avian influenza. Thanks to the pandemic influenza issue, global cooperation and national preparedness for avian and pandemic influenza has been enhanced and this will provide a template for global cooperation to address all types of public health emergencies. The main strategies to develop the preparedness against the public health threat of emerging infectious diseases are firstly maintaining basic public health scheme with capacity building, and secondly establishing disease-specific supplement. As to pandemic influenza, the government is building core capacities in its organizational and functional operation, including stockpiling of antiviral (oseltamivir) and personal protective equipment. In the plan of action on public health emergency, the additional issues to be dealt with include the development of public risk communication scenarios, measures to increase social distance, disinfection measures, especially hand washing, table top exercises, and manpower mobilization. International and regional contribution and collaboration have now become prerequisites for every country. We work to ensure transparency in reporting, immediate sharing of epidemiological data and samples, capacity building and collaboration with in-country and international partners.
Animals ; Capacity Building ; Communicable Diseases ; Communicable Diseases, Emerging* ; Cooperative Behavior ; Disinfection ; Emergencies ; Exercise ; Hand Disinfection ; Humans ; Influenza in Birds ; Influenza, Human ; Joints ; Korea ; Pandemics ; Pliability ; Public Health ; Social Distance

No abstract available.
HIV* ; Korea*

This Study has been carried out to make a recommendation for the next amendment of the Infectious Disease Prevention Act with a specific focus on the kind of notifiable disease. Korean, Japanese, German, U.S, English and French acts on infectious diseases prevention were reviewed, compared with and analyzed in regards of numbers and kinds of notifiable infectious diseases and their tendency of amendments. An criteria was designed to assess the level of validity of diseases to be designated in the act. Four items, the fatality (greater than 10% or not), the possibility to make a big epidemic, the availability of efficient vaccination and the usefulness of isolation, are used in the assessment. This index is applied to the diseases in Korean and other countries' Infectious Disease Prevention Acts. Results are as follows : 1. The Korean Infectious Disease Prevention Act has a unique way of classifying the notifiable infectious disease, that is, the first, the second and the third class. But the author cannot find the basis of classification. No other countries reviewed have the similar classification. 2. The ten diseases, cholera, plague, yellow fever, diphtheria, typhoid fever, poliomyelitis, rabies, tetanus, malaria, and meningococcal meningitis are designated as the notifiable diseases not only in Korea but also in Japan, Germany, United States, England and France. 3. Thirty seven diseases including small pox, Lassa fever, anthrax, influenza, German measles, Legionellosis, infection with E. coli O157:H7, Q-fever, brucellosis, Lyme disease are designated as legal disease at least one of the above mentioned countries. 4. The Korea has been coped with the change of the infectious disease occurrence for last fifty years in amendment of the Infectious Disease Prevention Act. 5. Japan has a special infectious surveillance system composed of 3,880 clinics throughout the whole country. 6. Germany has classified infectious diseases in five categories which are based on seriousness of disease. Any confirmed death, cases and suspected cases in class I should be reported within 24 hours. But only confirmed death and cases in class II, but not suspected cases, are repotable in Germany. 7. Plague, bacillary dysentery, pertussis, mumps, Japanese encephaltis and Korean hemorrhagic fevers are diseases with high credits validity index among Korean legal disease. 8. German measles, anthrax, E. coli O157:H7 infection, Lassa fever, Q-fever, brucellosis are high in validity index among those which are not designated in Korea but designated in other countries. In conclusion, the Korean Infectious Disease Prevention Act has well been coped with the changes of infectious disease occurrence for last fifty years, but the classification basis and the validity of diseases to be designated as legal diseases is worth reevaluating.
Anthrax ; Asian Continental Ancestry Group ; Brucellosis ; Cholera ; Classification ; Communicable Diseases* ; Diphtheria ; Dysentery, Bacillary ; England ; Fever ; France ; Germany ; Humans ; Influenza, Human ; Japan ; Korea ; Lassa Fever ; Legionellosis ; Lyme Disease ; Malaria ; Meningitis, Meningococcal ; Mumps ; Plague ; Poliomyelitis ; Rabies ; Rubella ; Tetanus ; Typhoid Fever ; United States ; Vaccination ; Whooping Cough ; Yellow Fever

In a small island community with a population of less than 100 residents, nine persons died and five experienced severe illness during the period from November 1986 to May 1988. Their initial symptoms were sore throat and fever. Renal failure and hepatitis developed which one week after the onset. Oral mucosal ulcer developed in some cases. After one week, progressive respiratory failure and dyspnea developed evidently and severe respiratory distress and hypoxia preceded those fatal cases. Chest X-ray findings revealed bilateral diffuse multiple cystic lesion with occasional multiple large emphysematous bullae. Based on these features paraquat poisoning was diagnosed and route of poisoning was investigated. In three sources of drinking water, trace amount of paraquat was detected in November 1988, six months after the incidence of recent fatal case. In November 1988, soybean sauces and soybean pastes from 12 households were found contaminated with high concentration of paraquat, the cause of this mass poisoning has been suggested.
Anoxia ; Drinking Water ; Dyspnea ; Eating ; Family Characteristics ; Fever ; Hepatitis ; Humans ; Incidence ; Ointments ; Paraquat* ; Pharyngitis ; Poisoning* ; Renal Insufficiency ; Respiratory Insufficiency ; Soybeans ; Thorax ; Ulcer

No abstract available.
Colon* ; Rats, Sprague-Dawley* ; Rectum*

The purpose of this study are to delineate the temporal and spatial changes of bone mineralization at the distraction gap and adjacent parent bone, and to investigate the effect of microaxial dynamization on regenerate bone healing and on development of regional osteopenia at the adjacent parent bone, during callotasis. Sixteen Korean adult mongrel dogs underwent bilateral tibial lengthening by callotasis. To the right hindlimbs, no dynamization was applied and served as control group (group I, and axial elastic dynamization was conffered to the left hindlimbs (group II). Bone mineral density(BMD) was measured by dual X-ray absorptionmetry(DXA) at immediate post-operative day, post-operative 12 day, 22 day, 36 day, 50 day, 65 day, and 85 day. Quantitative computed tomogram(Q-CT) was also taken after sacrifice to analyze temporal changes of mineralization pattern in the distraction gap. The following results were obtained; 1. In both group I and II, the BMD was lowest at the interzone in the distraction gap and increased linearly toward the corticotomy surface. This pattern did not change with time until the consolidation of the distraction gap, but the difference of BMD between the interzone and adjacent parent bone decreased with progress of consolidation. 2. During the distraction period, BMD increased progressively at the distraction gap and adjacent parent bone in both group I and II. During consolidation period, although BMD of the distraction gap still increased progressively, that of the adjacent parent bone decreased progressively in group I; the more distant from the corticotomy surface, the more decreased the relative BMD. in group II, the decrease in BMD of the adjacent parent bone was less than that in group I which was statistically significant in mid-consolidation period. In conclusion, the new bone in the distraction gap during callotasis appeared to form in bilateral direction with linear gradient from interzone toward corticotomy surface. Dynamization during callotasis not only stimulated regenerate bone healing in the distraction gap, but also prevented the occurrence of transient regional osteopenia at the distant part of the adjacent bone during midconsolidation period.
Adult ; Animals ; Bone Density ; Bone Diseases, Metabolic ; Calcification, Physiologic ; Dogs ; Hindlimb ; Humans ; Miners ; Osteogenesis, Distraction ; Parents ; Tibia