• Journal of Genetic Medicine
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• v.18 no.1
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• pp.44-47
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• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

• Restorative Dentistry and Endodontics
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• v.47 no.2
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• pp.17.1-17.8
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• 2022

Endodontic microsurgery is a predictable treatment option when orthograde treatment or retreatment is unsuccessful or unfeasible. However, when there is a gross compromise of periapical bone, achievement of bone regeneration after the surgical procedure may be hampered. In such cases, the application of guided tissue regeneration principles, with adjunctive use of leukocyte platelet-rich fibrin to fill the bone defect as a bone substitute and as a membrane to cover the site, provides a cost-effective solution with the benefits of accelerated physiological healing and reduced post-surgical pain and discomfort. This case report presents 2 cases of endodontic microsurgery of the upper lateral incisors with loss of buccal cortical plate, where platelet-rich fibrin was successfully applied.

• Childhood Kidney Diseases
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• v.21 no.2
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• pp.136-141
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• 2017

Purpose: This study aimed to investigate clinical and radiological factors that may predict high-grade vesicoureteral reflux (VUR) in patients with febrile urinary tract infection (UTI). Methods: We retrospectively analyzed medical records of 446 patients diagnosed with febrile UTI from March 2008 to February 2017. All patients underwent renal-bladder ultrasonography (RBUS), 99mTc dimercaptosuccinic acid (DMSA) renal scan, and voiding cystourethrography (VCUG), and were divided in to 3 groups: a high-grade VUR group (n=53), a low-grade VUR group (n=28), and a group without VUR (n=365). Results: The recurrence and non-Escherichia coli infection rates in febrile UTI were significantly higher in the high-grade VUR group than in the other two groups (P<0.05). RBUS showed that hydronephrosis and ureter dilatation were more frequent in the high-grade VUR group than in the other groups (P<0.05). In the high-grade VUR group, a renal cortical defect was more likely to appear as multiple defects, and the difference in bilateral renal scan uptake between both kidneys was larger than in the other two groups (P<0.001). Conclusion: Recurrent UTI, non-E. coli UTI, abnormal findings on RBUS such as hydronephrosis and ureter dilatation, and abnormal findings in the DMSA renal scan such as multiple renal cortical defects and greater uptake difference were associated with high-grade VUR. VCUG should be selectively performed when RBUS and/or DMSA renal scan reveal significant abnormalities.

• Toxicological Research
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• v.17
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• pp.11-16
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• 2001

The development of the central nervous system is a continuous process during the embryonic and fetal periods. For a better understanding of congenital anomalies of central nervous system, three major events of normal development, i.e., neurulation (3 to 4 weeks), brain vesicle formation (4 to 7 weeks) and mantle formation (over 8 weeks) should be kept in mind. The first category of anomalies is neural tube defect. Neural tube defects encompass all the anomalies arise in completion of neurulation. The second category of central nervous system anomalies is disorders of brain vesicle formation. This is anomaly that applies for "the face predicts the brain". Holoprosencephaly covers a spectrum of anomalies of intracranial and midfacial development which result from incomplete development and septation of midline structures within the forebrain or prosencephalon. The last category of central nervous system malformation is disorders involving the process of mantle formation. In the human, neurons are generated in two bursts, the first from 8 to 10 weeks and next from 12 to 14 weeks. By 16 weeks, most of the neurons have been generated and have started their migration into the cortex. Mechanism of migration disorders are multifactorial. Abnormal migration into the cortex, abnormal neurons, faulty neural growth within the cortex, unstable pial-glial border, degeneration of neurons, neural death by exogenous factors are some of the proposed mechanism. Agyria-pachygyria are characterized by a four-layerd cortex. Polymicrogyria is gyri that are too numerous and too small, and is morphologically heterogeneous. Cortical dysplasia is characterized by the presence Q[ abnormal neurons and glia arranged abnormally in focal areas of the cerebral cortex. Neuroglial malformative lesions associated with medically intractable epilepsy are hamartia or hamartoma, focal cortical dysplasia and microdysgenesis.ysgenesis.

• Journal of Korean Neurosurgical Society
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• v.37 no.2
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• pp.124-128
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• 2005

Objective: Congenital bilateral perisylvian syndrome(CBPS) has been defined as a characteristic malformative perisylvian polymicrogyria(PMG) in patients with clinical symptoms of pseudobulbar palsy and epileptic seizures. For the present study, we investigate clinicopathologic features of CBPS associated with timing of lesion formation. Methods: Clinicopathologic features of CBPS from 6 patients with surgical resection of the cerebral lesions due to medically intractable seizures were studied. Results: Seizure onset ranged from 1 to 10years (average 6.7years) of age, and average duration of seizure was 23years. All had complex partial seizures, and two patients had additional tonic clonic seizures. Magnetic resonance (MR) images showed polymicrogyria, atropic gyri with gliosis. In the histopathologic examination, the cortical lesions revealed features of ulegyria; atrophic and sclerotic gyri, laminar loss of neurons, extensive lobular gliosis throughout the gray and white matter, neuronoglial nodule formation, and many amyloid bodies. Unlayered or four-layered PMG was not identified. Conclusion: Above data suggest that CBPS might be caused by ulegyria resulting from developmental cortical defect during early fetal stage or acquired hypoxic/ischemic injury in prenatal or postnatal life.

• Childhood Kidney Diseases
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• v.14 no.1
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• pp.71-78
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• 2010

Purpose : Hydronephrosis is found about 30% of children with urinary tract infection (UTI). It can be caused by various conditions, although most childhood hydronephrosis is congenital. This study was performed to investigate the relationship between febrile UTI and hydronephrosis. Methods : We retrospectively reviewed the medical charts of 183 patients diagnosed as UTI between January 2007 and May 2009 at Korea University Guro Hospital. Inclusion criteria were as followings; 1) fever more than $37.5^{\circ}C$ measured in the axilla, 2) positive urine culture, 3) no history of urinary tract anomaly on antenatal sonography and urinary tract infection. We classified the enrolled children into two groups of patients with hydronephrosis (HN) and those without hydronephrosis (NHN). Results : The 80 patients were HN and 103 patients NHN. Hydronephrosis was found in 58 patients with left kidney, 8 right and 14 both kidneys. Most of hydronephrosis were of low grade. Compared with NHN group, initial renal cortical defects on DMSA scan significantly increased in HN group (HN 37.5%, NHN 16.5%, P<0.05). The incidence of VUR was not different between the two groups (HN 22%, NHN 12.1%). White blood cell counts and C-reactive protein were not different between the two groups. Follow-up DMSA scan (about 6 months later after UTI) showed no difference of renal scarring in both two groups. Conclusion : Our data suggests that hydronephrosis in febrile UTI patients is clinically useful for detecting renal cortical defects, but is not associated with follow-up renal scar.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.35 no.5
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• pp.294-301
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• 2013

Purpose: The purpose of this study is to assess the effectiveness of beta-tricalciumphosphate (${\beta}$-TCP) as a bone graft material on new bone formation and regeneration of mandible bone defect around dental implants. Methods: Both mandibular sites of ten rabbits were exposed. The experimental subjects were divided into two groups. Rabbits in the control group (right site of the mandible) had dental implants around cortical bone defects, without treatment, while, in the experimental group (left site of the mandible), ${\beta}$-TCP was grafted into the bone defect around the implant. Rabbits were sacrificed after one, two, three, four, and eight weeks, and histomorphometric evaluation and analysis of the bone implant contact rate were performed using an optical microscope. Results: Bone formation rates in the experimental group were greater than those in the control group from one to eight weeks, and percentages of implant surface contacted to bone were greater in the experimental group than in the control group from three weeks after implantation. Conclusion: These results suggest that the bone formation activity around dental implants was increased by osteoconduction activity of ${\beta}$-TCP.

• Clinics in Shoulder and Elbow
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• v.22 no.1
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• pp.29-36
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• 2019

Background: The execution of fibular allograft augmentation in unstable proximal humerus fractures (PHFs) was technically demanding. In this study, the authors evaluated the clinical and radiographic outcomes after tricortical iliac allograft (TIA) augmentation in PHFs. Methods: We retrospectively assessed 38 PHF patients treated with locking-plate fixation and TIA augmentation. Insertion of a TIA was indicated when an unstable PHF showed a large cavitary defect and poor medial column support after open reduction, regardless of the presence of medial cortical comminution in preoperative images. Radiographic imaging parameters (humeral head height, HHH; humeral neck-shaft angle, HNSA; head mediolateral offset, HMLO; and status of the union), Constant score, and range of motion were evaluated. Patients were grouped according to whether the medial column support after open reduction was poor or not (groups A and B, respectively); clinical outcomes were compared for all parameters. Results: All fractures healed radiologically (average duration to complete union, 5.8 months). At final evaluation, the average Constant score was 73 points and the mean active forward flexion was $148^{\circ}$. Based on the Paavolainen assessment method, 33 patients had good results and 5 patients showed fair results. The mean loss of reduction was 1.32 mm in HHH and 5.02% in HMLO. None of the parameters evaluated showed a statistically significant difference between the two groups (poor and not poor medial column support). Conclusions: In unstable PHFs, TIA augmentation can provide good clinical and radiological results when there are poor medial column support and a large cavitary defect after open reduction.

• Imaging Science in Dentistry
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• v.51 no.1
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• pp.81-86
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• 2021

Purpose: This study was performed to assess and describe the imaging features of 40 cases of Stafne bone defects (SBDs) on computed tomographic (CT) examinations. Materials and Methods: This study collected data, including age and sex, from 40 patients with SBDs who underwent CT exams. The imaging features of the SBDs were assessed in terms of their location, average size, the relationship of their contour with the cortical plate of the lingual mandible, bone margins, degree of internal density, shape, topographic relationship between the defect and the mandibular edge, the distance from the SBD to the base of the mandible, and the Ariji classification (type I, II, and III). Results: The average age was 57.3 years(range, 28-78 years), and the patients were predominantly male (70%). In all cases (100%), the posterior unilateral lingual SBD variant was observed. Within the Ariji classification, type I was the most common (60%). Among the most frequently observed radiographic characteristics were thick sclerotic bone margin across the entire defect contour, completely hypointense internal content, an oval shape, and continuity with the mandibular base with discontinuity of the mandibular edge. Conclusion: This study showed that posterior SBDs could present with an oval or rounded shape, complete hypodensity, and thick sclerotic margins. Likewise, SBDs could appear almost anywhere, with minor differences from the classic SBD appearance. It is fundamental for dental practitioners to know the imaging features of SBDs, since they are diagnosed primarily based on imaging.

• Journal of Veterinary Clinics
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• v.40 no.2
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• pp.85-92
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• 2023

Fractures in the horse industry are challenging and a common cause of death in racehorses. To accelerate fracture healing, tissue engineering (TE) provides promising ways to regenerate bone tissues. This study aimed to evaluate the osteogenic effects of biphasic calcium phosphate collagen (BCPC) graft, bone morphogenetic protein 2 (BMP2), mesenchymal stem cell (MSC), and platelet-rich plasma (PRP) treatments in horses. Four thoroughbred horses were included in the study, and, in each horse, three cortical defects with a diameter of 5 mm and depth of 10 mm were formed in the third metacarpal bones (MC) and metatarsal bones (MT). The defects were randomly assigned to one of six treatment groups (saline, BCPC, BMP2, MSC, PRP, and control). Injections of saline, BMP2, PRP, or MSCs were made at 1, 3, and 5 weeks after defect surgery. Bone regeneration effects were assessed by radiography, quantitative computed tomography (QCT), micro-computed tomography (μCT), histopathological, and histomorphometric evaluation. The new bone ratio (%) in the histomorphometric evaluation was higher in the BMP2 group than in the control and saline groups. Radiographic and QCT values were significantly higher in the BCPC groups than in the other groups. QCT values of the BMP2 group were significantly higher than in the control and saline groups. The present study demonstrated that BCPC grafts were biologically safe and showed osteoconductivity in horses and the repeated injections of BMP2 without a carrier can be simple and promising TE factors for treating horses with bone fractures.