• Journal of Veterinary Science
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• v.24 no.4
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• pp.57.1-57.8
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• 2023

Siewert-Kartagener's syndrome, a type of primary ciliary dyskinesia, is a complex disease comprising situs inversus, rhinosinusitis, and bronchiectasis. Situs inversus totalis is a condition in which all organs in the thoracic and abdominal cavities are reversed. Furthermore, primary ciliary dyskinesia, an autosomal genetic disease, may coexist with situs inversus totalis. Reports on Siewert-Kartagener's syndrome in veterinary medicine are limited. We report a rare case of primary ciliary dyskinesia with Siewert-Kartagener's syndrome in a dog, concurrently infected with canine distemper virus and type-2 adenovirus. This case highlights that situs inversus totalis can cause primary ciliary dyskinesia, and concurrent infections are possible.

• Childhood Kidney Diseases
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• v.27 no.2
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• pp.117-120
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• 2023

Here, we present the case of a 2-month-old male infant with hyponatremic hypertensive syndrome resulting from stenosis of the right proximal and mid-renal arteries. The patient exhibited nephrotic-range proteinuria, low serum albumin, increased serum creatinine, and elevated renin and aldosterone levels. Doppler ultrasonography and computed tomography angiography revealed decreased vascular flow in the small right renal artery. Following a successful percutaneous balloon angioplasty, the patient experienced a decrease in blood pressure and normalization of serum electrolyte levels within a few days. However, it took 3 months for the proteinuria to resolve completely. This case is significant as it represents the first reported instance of a neonate presenting with clinical features resembling congenital nephrotic syndrome caused by renal artery stenosis that was successfully treated with percutaneous renal angioplasty.

• The Journal of Korean Orthopaedic Ultrasound Society
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• v.1 no.2
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• pp.128-133
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• 2008

Nerve compression is caused by external force or internal pathology, which symptom develops along nerve distribution. There are median, ulnar and radial nerve compression neuropathies below elbow. Carpal tunnel syndrome at the flexor retinaculum is most common among all the entrapment neuropathies. Other causes of median nerve neuropathy include Struther's ligament, biceps aponeurosis, pronator teres, FDS aponeurosis and aberrant muscles, which induce pronator syndrome or anterior interosseous nerve syndrome. Ulnar nerve can be compressed at the elbow by arcade of Struther, medial epicondylar groove, FCU two heads, which develops cubital tunnel syndrome, at the wrist by ganglion, fracture of hamate hook and vascular problem, which develops Guyon's canal syndrome. Radial tunnel syndrome is caused by supinator muscle, which compresses its deep branch. Treatment is conservative at initial stage like NSAID, night splint or steroid injection. If symptom persists, operative treatment should be considered after electrodiagnostic or imaging studies.

• Korean Journal of Clinical Laboratory Science
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• v.36 no.2
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• pp.205-209
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• 2004

This study was carried out to review and evaluate a total of 2,463 cases of human chromosomal analysis at Kwangju Christian Hospital from 1974 to 2004. We collected 2.0-3.0ml of human peripheral blood in heparized bottle. Then, we cultured it for 72 hours. We performed GTG-banding and chromosomal kayotyping analysis by Cytovision kayotyping system. Abnormal karyotypes were observed in 30.5% of the total cases (750/2,463). Autosome and sex chromosome anomalies were observed in 25.8% (635/2,463) and 4.7% (115/2,463) respectively. In a total of 2463 cases, there were 522 (22.4%) cases of Down's syndrome karyotype, and 67 (2.7%) cases of Turner syndrome. In conclusion, Down's syndrome has decreased after the end of the 1990s, but other (Turner syndrome et al.) chromosomal abnormal cases haven't decreased after the1970s.

• Clinical and Experimental Pediatrics
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• v.59 no.3
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• pp.145-148
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• 2016

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a rare and potentially fatal condition characterized by skin rash, fever, eosinophilia, and multiorgan involvement. Various drugs may be associated with this syndrome including carbamazepine, allopurinol, and sulfasalazine. Renal involvement in DRESS syndrome most commonly presents as acute kidney injury due to interstitial nephritis. An 11-year-old boy was referred to the Children's Hospital of Pusan National University because of persistent fever, rash, abdominal distension, generalized edema, lymphadenopathy, and eosinophilia. He previously received vancomycin and ceftriaxone for 10 days at another hospital. He developed acute kidney injury with nephrotic range proteinuria and hypocomplementemia. A subsequent renal biopsy indicated the presence of acute tubular necrosis (ATN) and late exudative phase of postinfectious glomerulonephritis (PIGN). Systemic symptoms and renal function improved with corticosteroid therapy after the discontinuation of vancomycin. Here, we describe a biopsy-proven case of severe ATN that manifested as a part of vancomycin-induced DRESS syndrome with coincident PIGN. It is important for clinicians to be aware of this syndrome due to its severity and potentially fatal nature.

• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Korean Journal of Head & Neck Oncology
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• v.23 no.2
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• pp.142-146
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• 2007

Objectives and Backgrounds : After parotidectomy, some of patients complain gustatory sweating, facial flushing and discomfort in the same area. A series of these symptoms are supposed to be caused by the aberrant regeneration of the secretory parasympathetic fibers to sweat glands and blood vessels of the skin following parotidectomy. In this study, we want to compare the efficacy of thermography to the Minor's starch-iodine test for determining the presence of Frey's syndrome. Materials and Methods : 48 patients who underwent total or superficial parotidectomy from March 2002 to December 2004 were selected for this study. A subjective clinical questionnaire and the objective Minor's starchiodine test were performed to evaluate the incidence of this syndrome. Total 21 patients were confirmed as positive Frey's syndrome and infrared thermography was performed for them. Result : Frey's syndrome occurred in 21 patients(43.8%). The average temperature of parotidectomy site and normal opposite area were $27.65^{\circ}C\;and\;26.41^{\circ}C$ respectively. Thermography showed temperature difference in 20 patient(95.2%) and the difference of temperature was statistically significant above $1.0^{\circ}C$(p<0.001). The severity of symptoms were related with the difference of temperature(p<0.05). Conclusion : Thermography is useful, non-invasive, simple and quantifying method to diagnose Frey's syndrome. Additionally, this geographic diagnosis is available to show the accurate area for botulinum toxin injection.

• Journal of Chest Surgery
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• v.25 no.7
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• pp.732-735
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• 1992

We experienced a case of application of Gianturco Self-Expendable Metal vascular stent for S V.C. syndrome at the postoperative stae of pneumonectomy for Lung cancer[Squamous cell carcinoma, stage IIIa] Placement was performed under fluoroscopic guidance. Clinical problem for patient was resolved satisfactorily Long-term follow-up is required to determine restenosis, complication, and recurrence of cancer, etc.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.44-48
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• 2015

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.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.5 no.1
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• pp.41-53
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• 1994

In 1944 Hans Asperger reported odd bizzare 400 children who showed autism like clinical symptoms but had higher intelligence and relatively intact speech function. He named these child 'autistic psychopathy'. Since them there were many controversial views about this syndrome. Some regards Asperger syndrome as the high functioning autism variant or preschizophrenic childhood condition or childhood form of schizoid personality disorder. Though there were still many controversy, recently ICD-10, DSM-IV accepted Asperger's syndrome as a distinct subtype of pervasive developmental disorder. The authors reviewed the history and conceptual changes of Asperger syndrome and summarized the interesting recent research findings. In addition, the authors argue that this syndrome has some linkage with autism and schizoid personality disorder and proposed that these is disorders do have common defect in social instinctual development.