• Journal of Veterinary Clinics
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• v.30 no.1
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• pp.45-48
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• 2013

A 12-year-old male poodle weighing 2.0 kg presented for evaluation of right thoracic limb lameness. The owner reported that the dog showed recurrent bilateral shoulder joint luxation after a car accident for a year. Recently, the left shoulder joint appeared well maintained, but right shoulder joint luxation was exacerbated. On physical examination, the dog showed non-weight bearing lameness on the right thoracic limb. Craniocaudal radiographic views revealed medial displacement of the right humerus. Mediolateral radiographic views revealed overlap of the glenoid cavity and humeral head. Muscle atrophy of the right thoracic limb, reduced biceps brachii muscle tendon tone, a tear of the medial glenohumeral ligament, and a rupture of the subscapularis tendon were identified intraoperatively. Transposition of the biceps muscle tendon was performed. However, at 7 days, there was evidence of right shoulder reluxation on radiographs. The second surgery was performed with two $2mm{\times}6mm$ cortical bone anchors and a $4mm{\times}6mm$ cancellous bone anchor placed in the cortical bone of the distal scapula and the cancellous bone of the proximal humerus respectively. Two scapular bone anchors were then connected with a humeral bone anchor using heavy nylon suture to minimize shoulder abduction range of motion. On radiographs right after surgery and 6 weeks after surgery, the affected limb revealed no evidence of medial shoulder luxation. At 6 months, no evidence of lameness was noted on the right thoracic limb.

• Journal of Acupuncture Research
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• v.15 no.2
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• pp.331-348
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• 1998

Purpose: In order to study the therapeutic effect of TBR(Smilacis glabrae Rhizoma) aqua-acupuncture on the $HgCI_2$(mercury bichloride) intoxicated kidneys of rats. Methods: 10% TBR extract solution was aqua-punctured into the bilateral loci of Shin-su(BL23), every other day for 18 days, and the amount of leucocytes, erythrocytes, thrombocytes, hematocrit, hemoglobin, serum BUN and creatinine levels were measured and renal mercury level and histopathological findings were studied as well. The experimental groups were into nonmaI group, control group, sample I group, sample II group and sample III group. Results: 1. There were not any significant changes of leucocytes, erythrocytes and serum creatinine level in the TBR aqua-acupuncture group, saline aqua-acupuncture group and TBR aqua-acupuncture group respectively as compared with control group. 2. It showed a significant increase of hematocrit and hemoglobin level in the TBR aqua-acupuncture group on the 8th experimental day as compared with the control group. 3. It showed a significant increase of platelet in the TBR aqua-acupuncture group on the 8th experimental day, whereas significant decreases on the 18th experimental day as compared with the control group. 4. It showed a significant decrease of serum BUN level in the TBR aqua-acupuncture group on the 8th and 18th experimental day as compared with the control group. 5. It showed a significant decrease of renal mercury level in the TBR aqua-acupuncture group on compared with the control group. 6. In the histopathological findings, TBR aqua-acupuncture group showed slight atrophy of the renal tubules, mitosis and regeneration of tubular lining cells with visible nuclei, whereas the control group showed acute tubular necrosis, especially severe necrosis of tubular epithelial cells. Conclusions: Smilacis glabrae Rhizoma aqua-acupuncture on injured kidneys Induced by HgCl2 Intoxication in Rats increases hematocrit, hemoglobin and platelet level, and decreases BUN, renal mercury level. This suggests that Smilacis glabrae Rhizoma aqua-acupuncture helps to recover kidney from HgCl2 intoxication.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.87-92
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• 2015

Mucopolysaccharidosis (MPS) is an inherited disease entity associated with lysosomal enzyme deficiencies. MPS type 2, also known as Hunter syndrome, has a characteristic morphology primarily involving x-l inked recessive defects and iduronate-2-sulfatase gene mutation. The purpose of this case report is to provide important clues to help pediatricians identify Hunter syndrome patients earlier (i.e., before the disease progresses). A 30-month-old boy showed developmental delay and decreased speech ability. Physical examinations revealed a flat nose and extensive Mongolian spots. Brain magnetic resonance images (MRIs) showed bilateral multiple patchy T2 hyperintense lesions in the periventricular and deep white matter, several cyst-like lesions in the body of the corpus callosum, and diffuse brain atrophy, which were in keeping with the diagnosis. Based on these findings, the patient was suspected of having MPS. In the laboratory findings, although the genetic analysis of IDS (Iduronate-2-sulfatase) did not show any pathogenic variant, the enzymatic activity of IDS was not detected. We could confirm the diagnosis of MPS, because other sulfatases, such as ${\alpha}$-L-iduronidase, were detected in the normal range. Early enzymatic replacement therapy is essential and has a relatively good prognosis. Therefore, early diagnosis should be made before organ damage becomes irreversible, and brain MRIs can provide additional diagnostic clues to help distinguish the disorder.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.22-37
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• 2007

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.

• Clinical and Experimental Reproductive Medicine
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• v.45 no.4
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• pp.170-176
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• 2018

Objective: To assess whether the "testicular pool" could be used for histological analysis and whether it gave more accurate information than the standard testicular biopsy. Methods: Between January 2017 and March 2018, this single-center prospective study included 60 azoospermic men undergoing conventional bilateral testicular sperm extraction. Six samples were excised from each testicle and transferred to an embryologist. One additional biopsy was randomly taken from each testis for a histological analysis. After processing, the testicular pool was also sent for a histological analysis, which showed normal spermatogenesis (NS), hypospermatogenesis (HYPO), maturation arrest (MA), Sertoli cell-only syndrome (SCOS), and tubular atrophy (TA). Results: Twenty of the 60 patients (33.3%) had obstructive azoospermia (OA), while the remaining 40 (66.6%) had nonobstructive azoospermia. Their mean age was 40.5 years. All patients with OA had previously undergone unsuccessful testicular fine-needle aspiration. Successful sperm retrieval (SSR) occurred in 93.3% of patients. Histological analysis of the testicular biopsy revealed NS in 12 patients (20%), HYPO and TA in 28 patients (46.6%), MA in eight patients (13.3%), and SCOS in 12 patients (20%). The testicular pool analysis showed NS in 12 patients (20%), HYPO and TA in 44 patients (73.3%), MA in four patients (6.6%), and SCOS in no patients. In four patients with MA (6.6% of the total sample) and 12 patients with SCOS (20% of the total sample) according to the standard testicular biopsy, the embryologist found SSR with cryopreservation. Overall, in 44 patients (73.3%), the testicular pool analysis confirmed the histological findings of the standard testicular biopsy. In the 16 cases (26.6%) with a discrepancy between the single-biopsy histological findings and SSR, the testicular pool analysis confirmed the embryological data on SSR. Conclusion: The testicular pool proved to be easily analyzable, practical, manageable, and more accurate for predicting sperm retrieval than standard testicular biopsy.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• The Journal of Korean Obstetrics and Gynecology
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• v.30 no.4
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• pp.18-44
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• 2017

Purpose: The object of this study was to observe the anti-climacterium activity of Gagamguibiondam-tang (GGOT) on ovariectomized (OVX) rats, a well-documented rodent models resembles with women postmenopausal climacterium symptoms, as including cardiovascular diseases, obesity, hyperlipidemia, osteoporosis, organ steatosis and mental disorders. Methods: In this study, anti-climacteric effects were evaluated separated into three categories; 1) anti-obese, 2) anti-uterine atrophy and 3) anti-osteoporotic effects. Five groups were used (8 rats in each group); sham control, OVX control, GGOT 500, 250 and 125 mg/kg administered groups. Twenty-eight days after bilateral OVX surgery, GGOT were orally administered, once a day for 84 days, and then the changes on the body weight and gain during experimental periods, serum estradiol levels, abdominal fat pad and uterus weights with histopathology of abdominal fat pads (total thickness and mean adipocyte diameters) and uterus (total, epithelial and mucosal thickness, percentages of uterine gland regions) for anti-obese and estrogenic effects. In addition, femur, tibia and fourth or fifth lumbar vertebrae (L4 or L5) wet, dry and ash weights, mineral density (BMD), bone strength (failure load), serum osteocalcin and bone specific alkaline phosphatase (bALP) contents, histological and histomorphometrical analyses - bone mass and structure with bone resorption, were monitored for anti-osteoporosis activity. Results: As a result of OVX, noticeable increases of body weight and gains, food and water consumption, weights of abdominal fat pad deposited in dorsal abdominal cavity, serum osteocalcin levels were demonstrated in this experiment with decrease of uterus, femur, tibia and L5 weights, serum bALP and estradiol levels. In addition, marked hypertrophic changes of adipocytes located in deposited abdominal fat pads, uterine disused atrophic changes, decreases of bone mass and structures of femur, tibia and L4 were also observed in OVX control rats with dramatic increases of bone resorption markers, the Ocn and OS/BS at histopathological and histomorphometrical analysis in this study as compared with sham-operated control rats, suggesting the estrogen-deficient climacterium symptoms - obese and osteoporosis were induced by OVX, respectively. However, these estrogen-deficient climacterium symptoms induced by bilateral OVX in rats were significantly inhibited by 84 days of continuous oral treatment of GGOT 500, 250 and 125 mg/kg, respectively. Especially, GGOT 500, 250 and 125 mg/kg showed clear dose-dependent inhibitory activities on the OVX-induced climacterium signs. Conclusion: The results suggest that oral administration of GGOT 500, 250 and 125 mg/kg has clear dose-dependent favorable anti-climacterium effects - estrogenic, anti-obese and anti-osteoporotic activities in OVX rats in this experiment.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.9.1-10
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• 1981

The clinical study of 183 cases of laryngeal mass was observed and 88 cases of vocal nodule and polyp which is confirmed histopathologically, were clinically classified into 30 cases of vocal nodule, 48 cases of localized vocal polyp, 10 cases of diffuse vocal polyp, and the following results of microscopic examination were obtained. I. The clinical study of laryngeal mass 1. Among total cases of 183, vocal nodule is 82(45%) vocal polyp 53(29%) postintubation granuloma 3(1%) laryngeal papilloma 18(10%) tuberculosis 2(1%) cancer 25(14%). 2. The sex ratio of male to female is 3:4 in vocal nodule, 1:1 in vocal polyp, 1:2 in postintubation granuloma, 3:2 in laryngeal papilloma, 11:1 in cancer. 3. The age distribution is third-fourth decade in vocal nodule, fourth-fifth decade in vocal polyp, third decade in postintubation granuloma, second and fifth decade in laryngeal tuberculosis, sixth decade in laryngeal cancer. 4. The distribution of symptoms is 5 month. -1 year in vocal nodule and polyp, less than 1 year in laryngeal papilloma and postintubation granuloma, 1 year-3 year in laryngeal tuberculosis and cancer. 5. The location of the lesion is between the anterior 1/3 and middle 1/3 in vocal nodule and polyp and papilloma, middle 1/3 and posterior 1/3 in postintubation granuloma, and is diffusely spread on the entire vocal cord in laryngeal tuberculosis and cancer. 6. The side of the lesion is bilateral in vocal nodule and papilloma and the ratio of right to left is 5:3 in vocal polyp, 2:1 in postintubation granuloma. 7. The size is 1~2mm(67%) in vocal nodule, 3~5mm(42%) in vocal polyp, 6~10mm (67%) in postintubation granuloma, 1~2mm (39%) in papilloma, more than 10mm in tuberculosis and cancer. 8. Among the symptoms, the hoarseness is in more than 90% of disease entity, the sore-throat in tuberculosis and cancer, the dyspnea in postintubation granuloma and papilloma and tuberculosis and cancer. 9. In the past history, certain relationship with smoking is noted in cancer (40%) and tuberculosis(50%) and the history of frequent attack of URI is in papilloma(33%). 10. In occupation, certain statistical significance was not noted. II. The histopathological study of vocal nodule and polyp. 1. Most polyps and nodules were covered with stratified squamous epithelium, but focal hyperkeratosis, parakeratosis, acanthosis and atrophy were rather frequently observed. Hyperkeratosis and acanthosis was most frequently seen.