• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.2
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• pp.134-140
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• 2018

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.18-22
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• 2017

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.

• Journal of the Korean Academy of Esthetic Dentistry
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• v.13 no.2
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• pp.7-11
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• 2004

The Schwachman-Diamond syndrome is an autosomal recessive syndrome(1/20,000 births), consisting of pancreatic insufficiency, neutopenia, which may be intermittent, neutrophil chemotaxis defects, metaphyseal dysostosis, failure to thrive and short stature. Patients present in infancy with poor growth and grease, foul-smelling stools that are characteristic of malabsorption. These children can be readily differentiated from those with cystic fibrosis by their normal sweat chloride levels, lack of the cystic fibrosis gene, and characteristic metaphyseal lesions. Pathologically, the pancreatic acini are replaced by fat with little fibrosis. The neutropenia may be cyclic. Recurrent pyogenic infections otitis media, pneumonia, dermatitis(fig 1), sepsis are common and a frequent cause of death. In dental examination, these patients had a poor oral hygine and moderate generalized marginal gingivitis, also show delayed primary tooth exfoliation and oral development. This report illustrates a case that pancreatic agenesis 6 yeas-old boy with various esthetic dental problems has been served the esthetic dental restoration of 6 years.

• Proceedings of the KSAR Conference
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• 2002.06a
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• pp.68-68
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• 2002

Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory function. Nowadays many deafness genes are newly identified by finding the locus for the causative genes. Mutations at many different loci in humans and mice are known to cause hearing impairment. Mouse mutants exhibiting deafness may be useful in identifying some of genes involved. (omitted)

• Imaging Science in Dentistry
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• v.41 no.1
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• pp.39-42
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• 2011

Facial asymmetry is not an uncommon occurrence in day to day dental practice. It can be caused by various etiologic factors ranging from facial trauma to serious hereditary conditions. Here, we report a rare case of non-syndromic facial asymmetry in a young female, who was born with this condition but was not aware of the progression of asymmetry. No relevant family history was recognized. She was also deficient in both deciduous and permanent teeth in the corresponding region of maxilla. Hence, the cause of this asymmetry was believed to be a segmental odontomaxillary hypoplasia of left maxilla accompanied by agenesis of left maxillary premolars and molars and disuse atrophy of corresponding facial musculature. This report briefly discussed the comparative features of segmental odontomaxillary hypoplasia, hemimaxillofacial dysplasia, and segmental odontomaxillary dysplasia and justified the differences between segmental odontomaxillary hypoplasia and the other two conditions.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.14
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• pp.5619-5624
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• 2015

Pancreatic cancer is a fatal malignancies which is predominantly seen in men and at advanced age (40-85 years) and has an aggressive course. Its frequency is gradually increasing over the past years. It accounts for 2% of all cancers and 5% of cancer-related deaths. Pancreatic cancer takes the first place among asymptomatic cancers. Ninety percent of cases are adenocarcinomas. Ten percent of the patients have a familial disposition. The disease is very difficult to detect as it has no early signs and spreads rapidly to surrounding organs is one of the most deadly types of cancer. Pancreatic cancer may result from hereditary germline or somatic acquired mutations in cancer-related genes and mutations also cause cancer progression and metastasis.

• The Journal of Korean Medicine
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• v.16 no.2 s.30
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• pp.79-99
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• 1995

The survey was done on 30 cases of obese patients who were treated by fasting therapy in the Dept. of Oriental Rehabilitation Medicine, oriental medical hospital in Won Kwang University from May 1995 to August 1995. The results are as follows: 1. The ratio of females to males was 1:14. The distribution was 20th decades (63%), 30th decade(13%), 10th decade(6.7%), and 40th decade(6.7%). 2. In the age of obese-prevalence, the middle to high school years was the highest number as 12 persons(40%). The 20th decade(23.3%) and 30th decade(13.3%) were the second and third highest frequency of subjects. 3. In the obesity index, 150% of ideal weight was the highest percentage with persons(40%). 120-129%(30%), 130-139%(23.3%) and 140-149%(6.7%) were in order of frequency. 4. In the family histories of obese patients, it was found that hypertension had a high incidence of 8 persons. Other evidences of family histories were DM (7), cancer (3) and CVD (2). In hereditary tendency of obese parents, it was known that hereditary tendency of obese mothers was high at 14 persons, that of obese fathers was 5 persons, and that of obese parents was 2 persons. 5. In identifying the cause of obesity, it was found that changes of diet patterns was high at 24 persons(80%). Pregnancy, birth and diseases were in order of cause. 6. The review of consumption showed that obese patients ate the same amount as non-obese persons in the case of 21 patients(70%), 8 patients(26.7%) ate more than non-obese persons and 1 person(3.3%) ate less than persons of the same ages. 7. Obese patients consumption of daily snacks was 10 persons(33%). 17 person(57%) of the obese patients ate midnight snacks every 3-4 days. 11 persons(37%) of the obese patients ate out every 3 - 4 days. 8. For the purpose of weight reduction, 15 patients(50%) used exercise. Fasting therapy(36.7%) and food restriction(33.3%) were the second and third methods used by obese patients. 9. In the relation of constitution medicine usage with obese patients, TAE-EUM-IN was 14 persons(46.7%), SO-EUM-IN was 11 persons(36.7%), and SO-YANG-IN was 5 persons(l6.7%).

• Tuberculosis and Respiratory Diseases
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• v.48 no.5
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• pp.788-793
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• 2000

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by mental retardation, epilepsy, and adenoma sebaceum. Pulmonary involvement is uncommon, but, when involved by tuberous sclerosis, it shows characteristic reticulonodular infiltration and cystic changes. Lymphangioleiomyomatosis is a rare disease of unknown cause that affects women of reproductive age. It is characterized by progressive proliferation of smooth muscle in the lung. We experienced one case of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in a 26-year-old female patient. This case is reported with a brief review of the literature.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.124-127
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• 2013

Among cause of carcinogenesis, heredity is believed to take about 10 percent in ovarian cancer. BRCA1 or BRCA2 account for largest portion of Hereditary Breast and Ovary Cancer (HBOC). Frequency of BRCA1/2 germ line mutations varies according to region and ethnicity from 1.1-39.7 percent. The identification of ovarian cancers with a BRCA mutation is will be more and important due to the possibility to offer a genetic counseling and also due to potential beneficial treatment effects with a poly-ADP-ribose polymerase inhibitor in some individuals. We report the case of a 41 year old woman with a stage Ic mucinous ovarian adenocarcinoma and carrier daughter found on family genetic counseling. We indentified other family members with a history of breast cancer of 1st degree and pancreatic cancer of 2nd degree relative. After a screening with immunohistochemistry, the absence of nuclear expression for BRCA1 and BRCA2 was revealed. The gene sequencing confirmed heterozygous mutations of BRCA2 gene. The daughter of the case subject consented for a test. This test was shown the daughter is positive for BRCA2 mutation. Regular surveillance, chemoprophylaxis with oral contraceptive and prophylactic surgery after childbearing were offered to her.

• Journal of Genetic Medicine
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• v.14 no.2
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• pp.71-74
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• 2017

Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy, which were reported to be caused by mutations in exon 21. The second phenotype includes hereditary sensory and autonomic neuropathy type 1E, which was suggested to be caused by mutations in exon 20 and 21. In this article, we report a novel heterozygous missense variant c.898A>C, p.(Lys300Gln) in exon 12 of DNMT1 in a young woman who presented with pure cerebellar ataxia. This report indicates that a mutation in exon 12 may lead to pure cerebellar ataxia. Another possibility is that the patient is currently in an early stage of the disease, and as the disease progresses, she will have more manifestations. To confirm or exclude this possibility, a subsequent follow-up study reporting the disease progression in this patient may be needed. Further reports of cases with the same mutation are needed to confirm the phenotype of this mutation.