• Korean Circulation Journal
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• v.52 no.3
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• pp.233-242
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• 2022

Background and Objectives: For adult men with congenital heart disease (ACHD), data on erectile dysfunction (ED) is limited. We aimed to assess the frequency of ED, its role in patient-physician communication and to identify parameters predicting ED. Methods: Male ACHD ≥18 years registered at the German National Register for Congenital Heart Defects were invited to participate in an online questionnaire about sexual health. Participants with presumed ED according to International Index of Erectile Function Score were compared to patients without ED. Results: The 371 patients responded to the questionnaire (83% with moderate to highly complex ACHD). The 43% presented with more than mild ED. When ED was present, patients complained about general anxiety to be sexually active more often (p<0.05) and underwent sexual activity less frequently compared to those without ED (p<0.05). Age ≥40 years (odds ratio [OR], 3.04; p=0.002), being single (OR, 6.82; p<0.0001), anxiety to be sexually active (OR, 2.64; p=0.0002) and psychiatric disease (OR, 4.33; p<0.0007) emerged as independent predictors for ED. Overall, patients sought medical advice in 6.7% of cases, whilst 29.6% would appreciate an active approach by the physician to address this sensitive topic. Conclusions: ED is affecting one third to one half of male ACHD according to a questionnaire-based analysis. Older age, being single, fear of sexual activity due to ACHD and psychiatric disorder emerged as independent predictors for ED. These parameters can easily be assessed to identify patients at risk. ED should be addressed proactively by health professionals.

• Journal of Chest Surgery
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• v.22 no.1
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• pp.95-105
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• 1989

The records of 248 patients over 16 years of age who had undergone a surgical correction of a congenital cardiovascular malformation during the period of 10 years from August, 1978 to July, 1988 were reviewed. During this period, the incidence of congenital cardiovascular malformation in adult was 18.2% of 1376 total heart disease operated on and 25.5% of 986 congenital heart defects. Among them, there were 200 patients in acyanotic group and 48 patients in cyanotic group. Male versus female ratio was 1:1.28. The oldest patient was 59 years old female who had atrial septal defect. The mean age was 24.4 years old. The distribution of the lesions showed a large preponderance of atrial septal defects [37.19o] followed in frequency by ventricular septal defects [918.1%], patent ductus arteriosus [17.3%], tetralogy of Fallot [16.1%], and a variety of other complex malformations[3.2%]. In the pediatric age group, relative frequency was different from that of this adult group, showing ventricular septal defects, tetralogy of Fallot, patent ductus arteriosus and atrial septal defects in order of incidence. The hospital mortality and late mortality were 6.0% and 1.7% respectively. The causes of hospital death were low cardiac output in 10 patients, arrhythmia in 2, air embolism in 1, sepsis in 1 and respiratory failure in l. Clinical improvement upto NYHA functional class I or II postoperatively has been achieved and sustained in all patients following repair except the patients of late death and receiving reoperation. This result confirms that congenital heart defects in the adults can be corrected with a good outcome and an aggressive operative approach seems justified.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1055-1060
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• 2007

Right-sided heart failure is a major problem among patients with congenital heart diseases, due to the prevalence of congenital heart defects and the association of pulmonary hypertension. More attention is focused on the structure of the right heart particularly in association with congenital heart defects and chronic lung disease. The right ventricle (RV) may support the pulmonary circulation, and sometimes the systemic circulation (systemic RV) in congenital heart defects. Despite major progress being made, assessing the RV remains challenging, often requiring a multi-imaging approach and expertise (echocardiography, magnetic resonance imaging, nuclear and cineangiography). Evidence is accumulating that RV dysfunction develops in many of these patients and leads to considerable morbidity and mortality. While there is extensive literature on the pathophysiology and treatment of left heart failure, the data for right-sided heart failure is scarce. Therefore RV function in certain groups of congenital heart disease patients needs close surveillance and timely and appropriate intervention to optimise outcomes. An understanding of RV physiology and hemodynamics will lead to a better understanding of current and future treatment strategies for right heart failure. This will review right-sided heart failure with the implications of volume and pressure loading of the RV in congenital heart diseases.

• Archives of Plastic Surgery
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• v.43 no.3
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• pp.258-264
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• 2016

Background The survival rate of newborns with severe congenital abdominal wall defects has increased. After successfully addressing life-threatening complications, it is necessary to focus on the cosmetic and functional outcomes of the abdominal wall. Methods We performed a chart review of five cases treated in our institution. Results Five patients, ranging from seven to 18 years of age, underwent the following surgical approaches: simple approximation of the rectus abdominis fascia, the rectus abdominis sheath turnover flap, the placement of submuscular tissue expanders, mesh repair, or a combination of these techniques depending on the characteristics of each individual case. Conclusions Patients with severe congenital abdominal wall defects require individualized surgical treatment to address both the aesthetic and functional issues related to the sequelae of their defects.

• Clinical and Experimental Pediatrics
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• v.64 no.6
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• pp.269-279
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• 2021

Clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9 (CRISPR-Cas9) is an ancient prokaryotic defense system that precisely cuts foreign genomic DNA under the control of a small number of guide RNAs. The CRISPR-Cas9 system facilitates efficient double-stranded DNA cleavage that has been recently adopted for genome editing to create or correct inherited genetic mutations causing disease. Congenital heart disease (CHD) is generally caused by genetic mutations such as base substitutions, deletions, and insertions, which result in diverse developmental defects and remains a leading cause of birth defects. Pediatric CHD patients exhibit a spectrum of cardiac abnormalities such as septal defects, valvular defects, and abnormal chamber development. CHD onset occurs during the prenatal period and often results in early lethality during childhood. Because CRISPR-Cas9-based genome editing technology has gained considerable attention for its potential to prevent and treat diseases, we will review the CRISPR-Cas9 system as a genome editing tool and focus on its therapeutic application for CHD.

• Journal of Korean Neurosurgical Society
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• v.46 no.6
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• pp.522-527
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• 2009

Objective : Atlantal arch defects are rare. Few cadaveric and imaging studies have been reported on the variations of such anomalies. Our goal in this study was to examine the incidence and review the clinical implications of this anomaly. Methods : A retrospective review of 1,153 neck or cervical spine computed tomography (CT) scans was performed to identify patients with atlantal arch defects. Neck CT scans were performed in 650 patients and cervical spine CT scans were performed in 503 patients. Posterior arch defects of the atlas were grouped in accordance with the classification of Currarino et al. In patients exhibiting this anomaly, special attention was given to defining associated anomalies and neurological findings. Results : Atlantal arch defects were found in 11 (11/1153, 0.95%) of the 1,153 patients. The type A posterior arch defect was found in nine patients and the type B posterior arch defect was found in two patients. No type C, D, or E defects were observed. One patient with a type A posterior arch defect had an anterior atlantal-arch midline cleft (1/1153, 0.087%). Associated cervical spine anomalies observed included one $C_{6-7}$ fusion and two atlantal assimilations. None of the reviewed patients had neurological deficits because of atlantal arch anomalies. Conclusion : Most congenital anomalies of the atlantal arch are found incidentally during investigation of neck mass, neck pain, radiculopathy, and after trauma.

• Journal of Trauma and Injury
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• v.26 no.1
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• pp.30-33
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• 2013

A 55-year-old woman was seen in the emergency department with posterior neck pain and a headache after a traffic accident. Physical examination revealed tenderness on palpation over the posterior skull and a midline spinous process of the cervical spine without neurologic deficit. A plain radiograph of the cervical spine demonstrated the absence of the lateral portion of the posterior arch of the atlas and very lucent shadowing of the anterior midline of the atlas, suggesting a fracture of the anterior arch. On three-dimensional computed tomography (CT) of the cervical spine, anterior and posterior bony defects of the atlas were noted. Well-corticated defects were noted with sclerotic change and with no evidence of soft tissue swelling adjacent to the bony discontinuities, consistent with a congenital abnormality. With conservative therapy, the patient gradually showed a lessening of the midline tenderness. Careful investigation with radiography or CT is needed for these patients to avoid confusion with a fracture, because these patients seldom need surgical treatment.

• Korean Journal of Veterinary Research
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• v.53 no.2
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• pp.133-136
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• 2013

To report multiple congenital ocular defects in a Bedlington terrier dog aged 2.5 months with blindness. Routine ophthalmic examinations were performed for the clinical signs. Menace responses and cotton ball test were absent in both eyes (OU), but pupillary light reflexes were normal in OU. Slit lamp biomicroscopy reveled corneal dystrophy, posterior subcapsular cataract, microphthalmia in OU and lenticular coloboma in the right eye. In indirect ophthalmoscopy and ultrasonography, retinal detachment and posterior lenticonus were shown in OU. It is the first report of lenticular coloboma and posterior lenticonus in a Bedlington terrier dog.

• Journal of Chest Surgery
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• v.28 no.8
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• pp.747-753
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• 1995

Patients over 14 years of age who have undergone a surgical correction of a congenital cardiac malformations during period of August 1959 through December 1993 have been reviewed. During this period, there were 6894 cases of congenital cardiac lesions consisting of 4576 acyanotic and 2318 cyanotic cases. Among them, a total of 1389 adults [20.1%with various congenital cardiac malformations, 1126 acyanotic group and 263 cyanotic group were operated on. 677 patients were male and 712 patients were female. There were 444 patients under 20 years of age, 365 patients between 20-24 years, 220 patients between 25-29 years, 138 patients between 30-34 years and 222 patients over 34 years. The most common defects were atrial septal defect which accounted for 500 cases [36.0%and another common malformations were ventricular septal defect [276 cases, 19.9% , patent ductus arteriosus [207 cases, 14.9% , tetralogy of Fallot [185 cases, 13.3%and pulmonary stenosis [44 cases, 3.2%in order of incidence. Overall operative mortality for this series was 2.7% [1.5% of acyanotic group and 7.9% of cyanotic groupcompared with 4.6% of operative mortality of total cases of congenital cardiac malformations [2.9% of acyanotic group and 16.7% of cyanotic group . This reviewed series reveals the incidence of operable congenital heart defects appearing in any adult life and demonstrates that surgical repair can be accomplished with a satisfactory low mortality rate.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.9-15
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• 2010

Congenital hypothyroidism (CH) is detected at a rate of 1 in 3,000 to 4,000 live births, making it the most common congenital endocrine disorder worldwide. CH is most commonly caused by defects in thyroid development leading to thyroid dysgenesis or dyshormonogenesis. Congenital hypothyroidism is usually sporadic, but up to 2% of cases of thyroid dysgenesis are familial, and CH caused by organification defects is often inherited in a recessive manner. The candidate genes associated with this genetically heterogeneous disorder fall into two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSHR gene in nonsyndromic CH, and Gsa and the thyroid transcription factor (TTF-1, TTF-2, and Pax-8) genes, which are associated with different complex syndromes that include CH. Among genes associated with dyshormonogenesis, the TPO and TG genes were initially described, and more recently PDS, NIS, and THOX2 gene defects. There is some evidence for a third group of CH conditions associated with iodothyronine transporter defects that are, in turn, associated with severe neurological sequelae.