ABSTRACT
Partial trisomy 14q is an extremely rare disorder. Approximately 50 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of balanced translocated chromosome, thus the offspring inherits such a chromosome. In this report, the father's chromosomal arrangement was 46, XY, t(11;14)(q25;q32.1) and the mother had a normal chromosomal arrangement. We experienced a case of partial trisomy 14q in a male neonate who had craniofacial abnormalities, frontal bossing, bulgin fontanelle, hypertelorism, low-set ears, wide and flat nasal bridge, thin cupid bow lip and micrognathia. The karyotype of his chromosome was 46,XY,der(11)t(11;14)(q25;q32.1). We report the case with a review of the literature.
Subject(s)
Humans , Infant, Newborn , Male , Craniofacial Abnormalities , Ear , Hypertelorism , Karyotype , Lip , Mothers , TrisomyABSTRACT
Cystic parathyroid adenoma is one of rare causes of hyperparathyroidism, and tends to cause increased serum level of parathyroid hormone, alkaline phosphate and serum calcium level similar to when compared to those of solid adenoma.
Subject(s)
Adenoma , Calcium , Carcinoma , Hyperparathyroidism , Parathyroid Hormone , Parathyroid Neoplasms , Thyroid Gland , Thyroid NeoplasmsABSTRACT
Rice is a staple food in most Asian countries including Korea and rice consumption is increasing in western countries as people recognize its nutritional values. Rice is regarded as hypoallergenic, and rice hypersensitivity is not common. We report a case of 1-year-old boy with rice allergy who presented with skin symptoms after ingestion or cutaneous contact with cooked rice, including thin rice porridge. When raw rice or rice cooked for 30 minutes was taken or rubbed on, erythematous papules and wheals developed within 10-20 minutes, but rice cooked for a minimum of one hour did not trigger skin manifestations.
Subject(s)
Humans , Infant , Male , Asian People , Eating , Food Hypersensitivity , Hypersensitivity , Korea , Nutritive Value , Skin , Skin Manifestations , WeaningABSTRACT
PURPOSE: Metformin is well-established oral hypoglycemic agent for adults and children with type 2 diabetes mellitus. In adults, metformin is effective as initial monotherapy with lack of weight gain. But, its beneficial role on obesity in children is less clearly defined. We assessed the effects of metformin in obese children with type 2 diabetes. METHODS: We evaluated body weight, height, body mass index, fasting blood sugar, HbA1c, lipid profiles in obese 36 children with type 2 diabetes treated with oral hypoglycemic agents at baseline, after 1 year and 2 years of treatment. We divided the subjects into three groups: metformin monotherapy, combination metformin with sulfonylurea, sulfonylurea monotherapy. The changes from baseline in three groups were measured. RESULTS: The decrease in body mass index, blood sugar & HbA1c was observed after treatment with metformin monotherapy group. Metformin monotherapy group after 1 & 2 years of treatment had a greater effect for body mass index (-1.9+/-1.7 kg/m2, -1.5+/-1.6 kg/m2, P<0.05). CONCLUSION: The Metformin monotherapy for obese children with type 2 diabetes improves glycemic control with benefits of significant improvement in body mass index.
Subject(s)
Adult , Child , Humans , Blood Glucose , Body Height , Body Mass Index , Body Weight , Diabetes Mellitus, Type 2 , Fasting , Hypoglycemic Agents , Metformin , Obesity , Weight GainABSTRACT
Kearns-Sayre Syndrome (KSS) is rare mitochondrial disorder characterized by chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block. It is occasionally combined endocrinologic symptoms such as hypoparathyroidism, short stature, diabetes mellitus and hypothyroidism. We reported the effect of Coenzyme Q10 on total serum calcium concentration in 17 years old girl with KSS and hypoparathyroidism. The patients was treated with alfacalcidol (1alpha-OHD3), Coenzyme Q10 and oral calcium agent. Total serum calcium concentration had even remained within normal range and hypercalcemia was developed suddenly after treatment of combination of Coenzyme Q10 and alfacalcidol (1alpha-OHD3). After stop of all medication, her total calcium concentration was decreased to 7.6 mg/dL and remained in normal range with oral calcium (2 g/day) and Coenzyme Q10 (150 mcg/day) daily. The action of Coenzyme Q10 is not clearly defined but, we could explain Coenzyme Q10 activates the capacity of the patient to produce the active form of Vitamin D, 1alpha-OHD3.
Subject(s)
Adolescent , Female , Humans , Calcium , Diabetes Mellitus , Heart Block , Hypercalcemia , Hypoparathyroidism , Hypothyroidism , Kearns-Sayre Syndrome , Mitochondrial Diseases , Ophthalmoplegia, Chronic Progressive External , Pigmentation , Reference Values , Retinaldehyde , Vitamin DABSTRACT
Clonorchis sinensis infection is one of the most common parasitic infections that is widely distributed in Southern Korea as well as China, Japan, Taiwan, Hong kong, and Vietnam and countries in Eastern Asia. The disease is caused by the ingestion of infected raw or under- processed freshwater fish. The clinical manifestations depend on the number of flukes in a patient, the period of infestation, and the complications. We experienced a 10-year-old boy who had a history of ingestion of raw fresh-water Chinese mitten crab preserved in soy sauce and presented with chronic urticaria. The causal organism, Clonorchis sinensis, was found by the identification of parasite ova in stool. We report a rare case of chronic urticaria related to Clonorchis sinensis that was successfully treated with praziquantel and review the pertinent literature.