• 대한두개안면성형외과학회지
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• 제20권4호
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• pp.265-269
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• 2019

Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist up to adulthood. In the current case, the patient did not exhibit other congenital anomalies or paralysis of other branches of the facial nerve. This adult patient presented with severe asymmetrical lower lip deformity during full mouth opening since birth. A chromosomal study for the detection of 22q gene deletion yielded negative results. The electromyography findings of the lower lip were insignificant. Depressor labii inferioris muscle resection was not effective, but bidirectional (horizontal and vertical) fascia lata grafting improved the aesthetic appearance of the asymmetrical lower lip. The patient showed improved lower lip symmetry during full mouth opening at 1 year after the surgery. Therefore, the details of this rare case are reported herein.

• 대한한의학방제학회지
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• 제29권1호
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• pp.9-17
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• 2021

Childhood obesity leads to adult obesity in case of failure of obesity treatment in childhood. It has been reported recently that the various risk factors that cause childhood obesity may lead to diabetes and arteriosclerotic cardiovascular disease in adulthood, thus the treatment of childhood obesity is more important. Sasang Typology advocated by the Korean traditional medical doctor in the late Joseon Dynasty, Je-Ma Lee (李濟馬), separated into four types of human constitution. It is known that Tae-Eum type (太陰人) is likely to be obese compared with other constitutions. This study examined the effects that influence on indicators related obesity and metabolic diseases through conducting aquatic application program at Tae-Eum type children who are severely obese (BMI > 30) during 12 weeks. Moreover, this study investigated the herbal prescriptions for obesity of Tae-Eum type (太陰人).

• Animal Systematics, Evolution and Diversity
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• 제38권4호
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• pp.199-204
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• 2022

Ichneumonidae are well-known parasitoids that attack the larvae or pupae of other insects. This study analyzed whether the abdominal DNA of two ichneumonid wasps, Pimpla disparis and Theronia atalantae gestator, showed the signature of the host species, Ivela auripes. Observations confirmed that these two ichneumonids were the representative parasitoid species growing in the larvae of I. auripes. In addition, sequence analysis showed that the mitochondrial cytochrome oxidase I gene of the host was amplified completely from the DNA extracted from the gut tissues of the ichneumonids. Even after 96 h of adulthood, the host's DNA traces did not disappear and were amplified in many individuals. These results suggest a constructive first step for establishing of a host information bank for ichneumonids in the future.

• 대한의생명과학회지
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• 제28권2호
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• pp.59-66
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• 2022

The Cyr61/CTGF/NOV (CCN) family is dynamically expressed in various tissues, including the nervous system, from the prenatal period to adulthood. However, major studies have been conducted only in limited fields, such as the cardiovascular and muscular systems, skeletal development, and cancer. In addition, although the CCN family is a secretory protein, very few studies have described its mechanism of secretion. Recently, it has been suggested that overexpression of CCN3 or intracellular accumulation due to problems in the secretory pathway can inhibit neuronal axonal growth. In this review, we have briefly summarized the structure and characteristics of the CCN family and its related diseases, with particular emphasis on the secretory mechanism and modifiers of the CCN family, newly identified in the nervous system.

• Molecules and Cells
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• 제45권10호
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• pp.685-691
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• 2022

Early-life environmental factors can have persistent effects on physiological functions by altering developmental procedures in various organisms. Recent experimental and epidemiological studies now further support the idea that developmental programming is also present in mammals, including humans, influencing long-term health. Although the mechanism of programming is still largely under investigation, the role of endocrine glucocorticoids in developmental programming is gaining interest. Studies found that perinatal glucocorticoids have a persistent effect on multiple functions of the body, including metabolic, behavioral, and immune functions, in adulthood. Several mechanisms have been proposed to play a role in long-term programming. In this review, recent findings on this topic are summarized and the potential biological rationale behind this phenomenon is discussed.

• Childhood Kidney Diseases
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• 제25권2호
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• pp.71-77
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• 2021

Childhood hypertension (HTN) has become a significant public health issue because of the increased risk of cardiovascular disease in adulthood. However, childhood HTN is underrecognized and underdiagnosed in clinical practice. The European Society of Hypertension in 2016 and the American Academy of Pediatrics (AAP) in 2017 published updated guidelines for the screening, prevention, and management of pediatric HTN. There were notable differences between the two guidelines as well as many similarities. The updated AAP guidelines have clarified and simplified the recommendations for screening, diagnosis, and treatment of childhood HTN based on current evidence. This review highlights the important developments in both guidelines, focusing on recent advances in the classification and treatment of childhood HTN.

• 대한유전성대사질환학회지
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• 제22권2호
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• pp.46-52
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• 2022

Inborn errors of metabolism (IEM) are very rare and genetically transmitted diseases and have man y different symptoms related with multisystemic involvement. More rarely, endocrinopathies can be an early and first symptom of IEM, but presents with signs of later complications in adolescent or adulthood. The mechanisms of endocrine dysfunction in IEM are poorly understood. Hypogonadotropic hypogonadism is common in hemochromatosis, adrenoleukodystrophy, galactosemia, and glycogen storage disease. Many girls with classic galactosemia are at high risk for premature ovarian insufficiency (POI), despite an early diagnosis and good control. Mitochondrial diseases are multisystem disorders and are characterized by hypo- and hypergonadotrophic hypogonadism, thyroid dysfunction and insulin dysregulation. Glycogen storage disorders (GSDs), especially type Ia, Ib, III, V are assocciated with frequent hypoglycemic events. IEM is a growing field and is not yet well recognized despite its consequences for growth, bone metabolism and fertility. For this reason, clinicians should be aware of these diagnoses and potential endocrine dysfunction.

• 대한유전성대사질환학회지
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• 제23권1호
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• pp.1-11
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• 2023

Inborn errors of metabolism encompass a wide variety of disorders, frequently affecting bone. This review presents a comprehensive retrospect on the primary involvement of bone in inborn errors of metabolism. Primary involvement of bone in inborn errors of metabolism includes entities that primarily affect the bone marrow, mineral component or cartilage. These include lysosomal storage disorders, hypophosphatasia, and hereditary hypophosphatemic rickets. In this review, we discuss the primary involvement of bone in inborn errors of metabolism (hypophosphatasia, X-linked hypophosphatemic rickets, Gaucher disease, and mucopolysaccharidoses) along with the therapeutic agents used in clinical settings, diagnostic strategies, and general management. With the development of disease-specific targeted therapies and supportive care, more number of patients with these disorders live longer and survive into adulthood. Moreover, skeletal symptoms have become a more prominent feature of these disorders. This makes the awareness of these skeletal symptoms more important.

• Anatomy and Cell Biology
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• 제56권3호
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• pp.367-373
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• 2023

One of the main parameters in the analysis of skeletal remains in forensic anthropological cases is the estimation of age. This study aimed to investigate the correlation between age and the fusion status of the sternal junction. This cross-sectional study was carried out on 184 sterna from 94 females and 90 males obtained from known-age cadavers in the Thai population. By direct observation, the fusion stage of the manubrio-sternal and sterno-xiphoidal junctions was studied and divided into unfused and fused joints. The results showed that a large proportion of the sterna remain unfused throughout adulthood, with fusion observed in both young and old cadavers. Insignificant differences in the rate of fusion, the sexes and ages were observed. None of the sterna under 30 years of age in females and 32 years of age in males showed fusion of the manubrio-sternal and sterno-xiphoidal junctions. Based on the variability of the sternal fusions observed in this study, we highlighted a very limited role of the sternum alone in the estimation of age in the Thai population.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.1-5
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• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.