• Anatomy and Cell Biology
• /
• v.56 no.4
• /
• pp.469-473
• /
• 2023

Anomalies of anterior cerebral artery (ACA) include aplasia, hypoplasia and variations in number. Magnetic resonance angiography (MRA) is a non-invasive diagnostic technique for assessment of anomalies of cerebral arteries. The aim of the study was to determine the role of MRA in detection of variants of ACA in adults. This study is an observational retrospective study. This study included forty-nine adult cases (28 males and 21 females), mean age 48±12.9 SD with anomalies of ACA in MRA. Magnetic resonance imaging of the brain and MRA were done to all patients. Cerebral MRA and magnetic resonance images were evaluated for frequency and distribution of variants of anterior cerebral arteries, associated aneurysms and infarctions. Odds ratios (ORs) and relative risk were calculated to determine risk of occurrence of cerebral infarctions in patients with anomalies of ACA. Hypoplasia of ACA was the commonest anomaly of ACA (51% of cases). Risk of occurrence of cerebral infarctions was higher in cases with azygos variant (OR, 3.3; P=0.35) than in those with hypoplastic ACA (OR, 2; P=0.58). MRA was highly reliable in identification of different variants of ACA and concomitant vascular changes.

• Journal of the Korean Society of Radiology
• /
• v.84 no.1
• /
• pp.286-290
• /
• 2023

Various branch anomalies of the aortic arch have been reported, but cases with separate origins of the internal and external carotid arteries with combined direct aortic arch origin of the left vertebral artery are extremely rare. Herein, we present a rare case of aplasia of the left common carotid artery with separate origins of the ipsilateral internal and external carotid arteries and vertebral artery from the aortic arch in a 10-year-old girl. In addition, we review the embryological development and clinical implications of these anatomical variations.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.3 no.2
• /
• pp.91-96
• /
• 2007

Cleidocranial dysplasia(CCD) is a congenital genetic disorder of skeletal and dental abnormality, which is mesodermal dysfunction influencing many tissues and organs, CCD was reported by Morand at first in 1766, And later, it was named cleidocranial dysostosis, cleidocranial dysplasia, Marie-sainton syndrome and mutational dysostosis. It is autosomal dominant disorder and there is no prevalence between man and woman. Until recent days, mutation of Runx2 in chromosome6p21 has known to be a main factor causing CCD. The specific clinical features of CCD are aplasia or hypoplasia of one or both clavicles and incomplete closing of fontanels and cranial sutures. Dental manifestations include retention of deciduous teeth, delayed eruption of permanent teeth, supernumerary teeth and cyst. Because there is no mental retardation and physical disability in CCD patients, they usually can not recognize their dental abnormality by the time of abolescence. So, after exfoliation of deciduous teeth, they usually live with edentulous status. It usually drives CCD patients to suffer from esthetic and functional problem. For this reason, CCD patients must be early diagnosed and improved in their appearance as well as masticatory function. So, surgical removal of supernumerary teeth and orthodontic eruption of the natural permanent teeth at adequate time is necessary.

• Biomedical Science Letters
• /
• v.15 no.2
• /
• pp.161-166
• /
• 2009

Human erythropoietin(EPO) is a glycoprotein that enhances red blood cell production by stimulating proliferation and differentiation of erythroid progenitor cells in the bone marrow. Patients with chronic kidney disease(CKD) suffer from anemia caused by reduced production of EPO in the kidney. Recombinant human EPO protein has been used successfully for the treatment of anemia associated with CKD. Recently, attention has been paid to the development of side effect of EPO, pure red cell aplasia(PRCA), in some patients with CKD. PRCA is a rare disorder of erythropoiesis that leads to a severe anemia due to an almost complete cessation of red blood cell production. EPO-related PRCA is caused by the production of EPO-neutralizing antibodies(Abs) that eliminate the biological activity of EPO as well as endogenous EPO in patients undergoing therapy. Since 1988, almost 200 cases worldwide have been reported with Ab-positive PRCA after receiving EPO therapeutics. The underlying mechanisms of the breaking of immune tolerance to self-EPO have been investigated. Modification of formulation, organic compounds of container closures, and route of administration has been suggested for the possible mechanism of increased immunogenicity of EPO. A number of assays have been used to detect Abs specific to EPO. These assays are generally grouped into two major categories: binding Ab assays and neutralizing Ab assays(bioassays). There are several types of binding Ab assays, including radioimmunoprecipitation assay, enzyme-linked immunosorbent assay, and the BIAcore biosensor assay. In vitro cell-based bioassays have been utilized for the detection of neutralizing Abs. Finally, the recent experience with anti-EPO Abs may have considerable implications for the future development and approval of EPO preparations. Also, considering that millions of patients are being treated with EPO, clinicians need to be aware of signs and consequences of this rare but severe clinical case.

• Korean Journal of Poultry Science
• /
• v.18 no.3
• /
• pp.141-150
• /
• 1991

A local isolate of chicken anemia agent (CAA), isolate 89-69. was tested for pathogenicity for chickens. When chickens from a specific pathogen free (SPF) flock were inoculated intramuscularly with the isolate at one day old, all the chickens showed severe anemia at 14 to 18 days post inoculation(DPI) and returned to normal at 25DPI, Some of the inoculated chickens (27∼33％) died between 13 to 17 DPI's with lesions of severe aplasia of bone marrow and thymic atrophy. In chickens kept in contact with inoculated chickens, some of the chickens had anemia at 25 and 28 DPI's. Virus could be reisolated from inoculated as well as in contact chickens till 21 DPI. Antibodies to CAA could be detected in all inoculated and in contact chickens when tested at 42 DPI by the indirect fluorescent antibody method. When chickens from a different SPF flock were inoculated at one day old, degrees of anemia, both in frequency of incidence and severity, were low These chickens were proved partly to have antibodies to CAA when tested for hatchmates. In a survey for antibodies to CAA in field chicken flocks, one out of 7 flocks(14％) aged 3 to 10weeks was antibody positive whereas 19 out of 20 flocks(95％) over 20 weeks of age were positive. Altogether 29 out of 39 flocks (74％) were antibody positive.

• Journal of Korean Neurosurgical Society
• /
• v.41 no.5
• /
• pp.343-346
• /
• 2007

Hypoplasia of the internal carotid artery is a rare congenital anomaly. Agenesis, aplasia, and hypoplasia of the internal carotid artery [ICA] are frequently associated with cerebral aneurysms in the circle of Willis. Authors report two cases with congenital hypoplasia of the ICA accompanying with the aneurysms. Transfemoral cerebral angiography [TFCA] in one patient identified nonvisualization of the left ICA. Bilateral anterior cerebral artery [ACA] and middle cerebral artery [MCA] were supplied from the right ICA accompanying with two aneurysms at anterior communicating artery [AcoA] and A1 portion of the left ACA. TFCA in another patient demonstrated hypoplastic left ICA and left ACA filled from the right ICA accompanying with AcoA aneurysm. Left MCA was filled from basilar artery via posterior communicating artery [PcoA]. Skull base computed tomography [CT] in two patients showed hypoplastic carotid canal. Authors performed direct aneurysmal neck clipping. Follow up CT angiography [CTA] at one year after surgery did not show regrowth or new development of the aneurysm. In patients with hypoplastic ICA, neurosurgeons should be aware of the possibility of development of the aneurysms, presumably because of hemodynamic process. Direct aneurysmal neck clipping is a good treatment modality. After operation, regular CTA, magnetic resonance angiography [MRA] or TFCA is needed to find progressive lesion and to prevent cerebrovascular attack [CVA].

• Clinical and Experimental Pediatrics
• /
• v.45 no.9
• /
• pp.1141-1145
• /
• 2002

Klinefelter syndrome is the most common chromosomal abnormality, with a 47, XXY karyotype and typical clinical findings of infertility, hypogonadism, reduced body hair, gynecomastia, tall stature, and incresed gonadotropins and decreased testosterone levels. In addition to this classic description, several other diseases have been discribed in Klinefelter syndrome such as unilateral renal aplasia, autoimmune disease, diabetes mellitus, sexual precoxity, renal cell carcinoma, intravesical ureterocele, and osteoporosis. The incidence is 1 in 400-1,000 of the population and urological abnormalities are not common. However a case of Klinefelter syndrome associated with multicystic dysplastic kidney has not been not reported up to date. Therefore, we describe a 1-day-year old baby boy who presented with Klinefelter syndrome with unilateral multicystic kidney dysplastic disease, plus with a brief review of the literature.

• Archives of Plastic Surgery
• /
• v.34 no.3
• /
• pp.346-351
• /
• 2007

Purpose: As a rare congenital anomaly, Poland's syndrome has been known to show hypoplasia in breast and nipple, absence of pectoralis major muscle, and aplasia or deformity of rib or costal cartilage which has been reported to be more common in male. However, most patients who are seeking operation are female patients having one-side deformity. In the field of plastic surgery, the major surgical indications could be asymmetric chest wall depression in man or breast hypoplasia in woman. There are many reconstruction options according to the degree of patient's deformity: a prosthetic implant, breast implant with or without tissue expander, latissimus dorsi musculocutaneous pedicled flap with or without implant and/or tissue expander, and free tissue transfer with or without tissue expander. Methods: The authors have treated 4 patients(2 male, 2 female) who had a diagnosis of Poland's syndrome. According to the degree of patient's deformity, all patients underwent correction of breast asymmetry and unilateral anterior thoracic hypoplasia with one-staged or two-staged reconstruction. Results: All patents were satisfied with the results and there occurred no specific complications. Conclusion: The authors propose the treatment plan for patient with Poland's syndrome, according to the degree of patient's deformity. In case of male patient with mild deformity, the prosthetic implant or latissimus dorsi musculocutaneous pedicled flap will simulate the missing pectoralis and improve the contour deformity. In case of female patient with moderate to severe breast asymmetry and upward displaced nipple areolar complex (NAC), NAC can be lowered with tissue expander, breast can be enlarged with autologous free flaps or latissimus dorsi musculocutaneous pedicled flap with implant.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.25 no.3
• /
• pp.555-561
• /
• 1998

Hypophosphatasia is a rare metabolic disorder which manifests characteristics such as abnormal mineralization of bone and dental tissues, diminished serum and tissue alkaline phosphatase, and increased urinary secretion of PEA. It inherited as an autosomal recessive or dominant trait and occurs in all races. In general, hypophosphatasia can be classified in 4 subtypes which are the perinatal, infantile, childhood, adult type depending upon the age at presentation and severity. In young children with Hypophosphatasia the long bones show irregular defects, and the skull showes poor calcification. In older children with premature closure of the skull sutures there may be multiple lucent area called gyral or convolutional markings, described as resembling beaten copper, presumably resulting from increased intracranial pressure. Examination of the jaws reveals a generalized lucency of the maxilla and mandible. the cortical bone and lamina dura are thin, and the alveolar bone may be deficient. Clinical features of Hypophosphatasia include premature loss of deciduous teeth, especially incisors, hypoplasia or aplasia of root cementum, enamel hypoplasia, irregular calcification of dentin, large pulp chamber, and resorption of marginal alveolar bone and roots. Our report involves a patient with a chief complaint of early loss of both Mx. and Mn. deciduous incisors. After conducting a through clinical and radiographic examination this patient was referred to pediatrics under the suspicion of hypophosphatasia, the diagnosis proved to be correct and successful results were accomplished through a denture made to improve esthetics and function.

• Journal of Korean Neurosurgical Society
• /
• v.65 no.4
• /
• pp.531-538
• /
• 2022

Objective : Anterior communicating artery (Acom) aneurysm is one of the most common intracranial aneurysms, constituting approximately 30-35% of all aneurysm formation in the brain. Anatomically, the H-complex (the anatomic morphology of both A1 to A2 segments) is thought to affects the nature of the Acom aneurysm due to its close relationship with the hemodynamics of the vessel. Therefore, we investigated the relative risk factors of aneurysmal rupture, especially focusing on H-complex morphology of the Acom. Methods : From January 2016 to December 2020, a total of 209 patients who underwent surgery, including clipping and coiling for Acom aneurysm in our institution were reviewed. There were 102 cases of ruptured aneurysm and 107 cases of unruptured aneurysm. The baseline morphology of aneurysms was investigated and the relationship between the H-complex and the clinical characteristics of patients with Acom aneurysms was assessed. Results : Of the 209 patients, 109 patients (52.1%) had symmetrical A1, 79 patients (37.8%) had unilateral hypoplastic A1, and 21 patients (10.0%) had aplastic A1. The hypoplastic A1 group and the aplastic A1 group were grouped together as unilateral dominancy of A1, and were compared with the symmetrical A1 group. There was no significant difference in demographic characteristics and radiological findings of Acom aneurysms between two groups. However, when dichotomizing the patients into ruptured cases and unruptured cases, unilateral dominance of the A1 segment was associated with aneurysmal rupture with statistical significance (p=0.011). Conclusion : These results suggest that the unilateral dominance of the A1 segment does not have a significant effect on the morphology of Acom aneurysms, but contributes to aneurysmal rupture. Thus, we can better understand the effects of hemodynamics on Acom aneurysm.