• The Journal of Korean Physical Therapy
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• v.12 no.2
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• pp.255-265
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• 2000

The term 'myositis ossificans' encompasses four categories of clinicopathological disorders. The first, myositis ossificans progressive(fibrodysplasia ossificans progressive), is a rare genetic disease characterized by progressive heterotopic ossification involving skeletal muscle, tendon, ligaments, and fascia, with congenital malformation of the great toes, and usually microdactyly, monophalangism, and mal formed proximal phalanges. with valgus deformity of metatarsophalangeal joint. The ossification begins shortly after birth and may contribute to the patient's death. The second, heterotopic ossificans, can occur in patients with neuromuscular and chronic diseases such as paraplegia, poliomyelitis, polymyositis, bum, tetanus, and infection. But the lesions in these cases often lack the typical histologic features of myositis ossificans. The third, myositis ossificans traumatica, is the most common; it develops in response to soft tissue trauma such as a single severe injury, minor repetitive injures, fracture, joint dislocation, stab wound, or surgical incision. The forth, nontraumatic myositis ossificans, also designated :pseudomalignant osseous tumors of extraskeletal soft tissues' and 'psedomalignant myositis ossificans', occurs in persons repeated small mechanical injures or nonmechanical soft tissue injuries due to local ischemia, inflammation. or other factors cannot be ruled out in such cases.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.189-196
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• 2018

Purpose: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. Methods: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. Results: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. Conclusion: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.

• Journal of Life Science
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• v.31 no.5
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• pp.453-463
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• 2021

Hearing loss is a group of clinically and genetically heterogeneous disorders characterized by congenital- to adult-onset deafness with frequent additional symptoms such as myopathy, nephropathy, and optic disorders. It is commonly divided into two types: syndromic, with no other symptoms, and nonsyndromic, with other symptoms. Autosomal recessive hearing loss is relatively frequent in Pakistan, which may be due in part to frequent consanguineous marriages. This study was performed by whole exome sequencing to determine the genetic causes in two Pakistani consanguineous families with autosomal recessive hearing loss. We identified a pathogenic homozygous variant (p.Leu326Gln in MYO7A) in a family with prelingual-onset hearing loss and two variants of uncertain significance (p.Val3094Ile in GPR98 and p.Asp56Gly in PLA2G6) in a family with early-onset hearing loss concurrent with muscular atrophy. The missense mutations in MYO7A and PLA2G6 were located in the highly conserved sites, and in silico analyses predicted pathogenicity, while the GPR98 mutation was located in the less conserved site, and most in silico analysis programs predicted its nonpathogenic effect. Homozygosity mapping showed that both alleles of the homozygous mutations identified in each family originated from a single founder; spread from this single source might be due to consanguineous marriages. This study will help provide exact molecular diagnosis and treatment for autosomal recessive hearing loss patients in Pakistan.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1982.05a
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• pp.11.2-12
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• 1982

The major advancement in phonosurgery due to recent development of laryngomicrosurgery enabled more accurate diagnosis and treatment of patient with voice disorders. Among large proportion of voice disordered patients, prominent linear furrow running parallel along the free edge of vocal cord extending from the vocal process to anterior commissure can be seen as well as incomplete closure during phonation. These cases were illustrated and coined as sulcus vocalis by Salvi in 1901, since then other similar paper was reported in Europe and Japan, but has not been reported in Korea. The exact etiology and therapeutic methods of sulcus vocalis has not been elaborated. At Department of Otolaryngology of Yonsei University College of Medicine a series of voice analysis were performed among those 35 patients with sulcus vocalis visited to Vocal Dynamics Laboratory from May, 1981 to March, 1982. Following is the result of clinical statistical investgation and therapeutic modality. 1) The incidance of sulcus vocalis among 290 patients with voice disorder visited to Vocal Dynamics Laboratory was approximately 12%(35 cases). 2) Onset of this voice disorder was most frequent among patient under 10 year-old groups; 19 cases (54%) followed by second decade, third decade groups in decreasing frequency respectably. 3) The etiology of sulcus vocalis was mostly unknown. The sequelae after measle (4 cases) and severe upper respiratory infection (3 cases) and congenital deformity (2 cases) were the possible causes of sulcus vocalis. 4) These patients were involved bilaterally in 25 cases (71%), left side only in 8 cases (23%) and right side only in 2 cases (6%). 5) Almost all patients complained hoarseness and 7 patients were suffering from chronic laryngitis. 6) In aerodynamic analysis, Maximal Phonation Time was decreased in 20 cases (57%), Phonation Quotient was increased in 22 cases (63%) and Mean Air Flow Rate was increased in 23 cases (66%). 7) Among them, 33 cases were analyzed with stroboscopy. The findings were as follows; incomplete glottic closure during phonation in 31 cases (93%), regular vocal cord movement in whole cases, asymmetric cord movement in 4 cases (12%), decreased amplitude in 5 cases (21%) and small mucosal wave in 24 cases (73%). 8) Intracordal Teflon injection in 5 cases and Sulcusectomy in 1 cases were performed as therapeutic management, however, the therapeutic results were not effective except one case with Teflon injection.

• Childhood Kidney Diseases
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• v.17 no.2
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• pp.101-109
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• 2013

Purpose: Pediatric urolithiasis is uncommon in children but is a cause of significant morbidity and damage to the kidney. Although much information on adult urolithiasis is available in the literature, large studies on the pediatric population are still scarce. In this report, we review our experience with pediatric urolithiasis over 22 years at a tertiary referral center. Method: We retrospectively reviewed the records of children with newly diagnosed urolithiasis between January 1991 and May 2013. We assessed the age, sex, family history, initial symptoms, location of stones, underlying cause, stone analysis, treatment, and recurrence among the patients. Results: In total, 137 patients (96 male, 41 female) were assessed. The age range was 0-17 years (mean age, 6.0 years). Forty-three (31%) children were aged <1 year, and 37% (16/43) had a history of intensive care unit (ICU) admission. Thirteen patients (9.5%) had a family history of stones. The most common symptoms at presentation among the patients were gross hematuria (56/137, 41%) and flank or abdominal pain (46/137, 34%). The stones were located in the kidney (85/137, 62%), ureter (29/137, 21%), bladder (2/137, 1.4%), and multiple locations (20/137, 15 %). Congenital abnormalities of the genitourinary (G-U) tract, with or without metabolic abnormality, or urinary tract infection (UTI) was detected in 26 children (19%). Ninety-one patients (66%) underwent metabolic examination, and 38% of these patients exhibited an abnormality. UTI, with or without abnormalities of the G-U tract, or metabolic abnormality was detected in 26 children (19%). Of the 35 stones analyzed, the majority were calcium stones (20/35, 57%), followed by infected stones (5/35, 14%), uric acid stones (4/35, 11%), carbonate apatite stones (3/35, 7%), cystine stones (2/35, 6%), and phosphate stones (1/35, 3%). Five patients (4%) required open procedures, with or without non-open procedures, whereas 77 patients (56%) were managed conservatively; the remaining 55 patients (40%) received some other form of intervention. Eighteen patients (13%) had stone recurrence during the follow-up period. Conclusions: Pediatric urolithiasis is commonly associated with abnormalities of the G-U tract and/or metabolic disorders and/or UTI. Half of the patients will pass their stones spontaneously, and all the techniques of minimally invasive surgery are applicable in the treatment of children with stones. As the recurrence rates are high among this population, long-term follow-up is recommended and the complete clearance of stones is important.

• Journal of Sasang Constitutional Medicine
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• v.11 no.2
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• pp.1-26
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• 1999

This paper was written in order to understand each constitutional symptoms and diseases with two aspects. The first was to trace the courses to accomplish constitutional symptoms and diseases from that of oriented medicine through "Dongyi Bogam" and the original writing such as "Shanghanlun". The second was to analyze the constitutional diseases with Lee Je-ma's own recognition on human being and the society which was based on the "Dongyi Suse Bowon". The original concepts of 'The Interior Disease' and 'The Exterior Disease' were based on the Nature and the Emotion, the Environmental Frames and the Human Affairs, the Ears Eyes Nose Mouth and the Lung Spleen Liver Kidney. The exterior disease were caused by the abilities of ears to listen, eyes to see, nose to smell, and mouth to taste on the environmental frames which were related one's recognition to society. The interior diseases were caused by the abilities of lung to study, spleen to ask, liver to think, kidney to judge on human affairs which were related the relationship between me and others. So the titles of constitutional diseases were named by these views on his first writing of "Dongyi Suse Bowon" in 1894. So the titles of Taeyangin diseases, 'The lumbar Vertebae Disease Induced by Exopathogen' and 'The Small Intestine Disease Induced by Endopathogen' were still remained as the first writing. But the titles of constitutional diseases were rewritten such as present titles in 1900. In order to express pathology and mechanism of constitutional diseases exactly, he rewrote titles which contained the manifestation sites of diseases, and the symptoms of febrile and cold, and the different congenital formations of organs. The exterior diseases and interior diseases had three characteristics. The first was that the exterior disease injured by the nature which had a tendency to progress slowly and the interior disease injured by the emotion which had a tendency to progress rapidly. The second was not that the interior disease and the exterior disease were separated, but that one influenced the other and these were revealed as a disease together when the diseases continued for a long time. The third was that even though the disease caught together it was included the beginning disease. The symptoms in ordinary times was the origin and clue to recognize the constitutional symptoms and diseases. It enabled to establish the constitutional medicine which treated by different ways according to constitution. It had two characteristics which were different from the Traditional Chinese Medicine in appearance of diseases. The first was that the disease was progressed to the next step from the symptoms in ordinary times. The second was that each constitution had different symptoms which were due to symptoms in ordinary times under the same disease, The third was the manifestation of disease were different from symptoms in ordinary times in the same constitution. But the most important thing was that Lee Je-ma recognized these symptoms in ordinary times as four categories and he presented constitutional symptoms and constitutional disease. The four categories were the method to recognize the human being and the diseases for him As the symptoms and diseases of Sasang Constitutional Medicine were compared to Traditional Chinese Medicine, the constitutional diseases of "Dongyi Suse Bowon" could be classified into two groups. The first group was the unique diseases and symptoms, which were not in the Traditional Chinese Medicine, and which were established by the Lee Je-ma. These contained the diseases of taeyangin, the exterior disease of taeumin, the exterior disease of soyangin. The second group used the unique methods to treat disease, which were not in Traditional Chinese Medicine, and which were established by Lee Je-ma. This contained the interior disease of taeumin, the delirium diseases from the MangYin of soyangin, the treatment to help the Yang-Qi ascend and to supplement the ql In the exterior disease of soeumin. Especially, the diseases of taeyangin and taeumin which were caused by the metabolism disorders of Qi-Yack(氣液) were the great achievement to establish constitutional symptoms and diseases. The discourse of taeyangin diseases presented his original thought to recognize the symptoms and diseases through the Shin Gi Hyul Jeong(神氣血精) and the Qi-Yack, the discourse of taeumin diseases presented the disperse of Qi-Yack through the forward and backward of sweat, the discourse of soyangin disease presented the sweat of hand and feet which was manifested that yin-qi of spleen descended to yin qi of kidney, and the bowel movement which was manifested that yang qi of large intestine ascend to head, face and four extremities, the discourse of soeumin disease presented the Jueyin syndrome without the abdominal pain and diarrhea as the exterior disease and made importance to the nervous mind And the classification of exterior diseases and interior diseases were not due to the pharmacology but due to the symptoms and diseases according to the constitution.