• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.23 no.1
• /
• pp.25-30
• /
• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.103-108
• /
• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

• Clinical and Experimental Pediatrics
• /
• v.51 no.7
• /
• pp.742-746
• /
• 2008

Purpose : The objective of this study was to evaluate the effects and adverse side-effects of growth hormone (GH) therapy in children with Prader-Willi syndrome (PWS). Methods : Forty-one patients who had been treated with GH for more than two years (24 boys and 17 girls, mean age $7.3{\pm}3.3$ years during treatment initiation) were enrolled for this study. Results : After 2 years of GH therapy, the height and weight standard deviation scores (SDS) increased significantly ($-1.19{\pm}1.37$ vs. $-0.02{\pm}1.45$, and $1.02{\pm}2.42$ vs. $1.63{\pm}2.22$, P<0.002); however the percentage body fat decreased ($44.6{\pm}9.9%$ vs. $38.1{\pm}10.5%$, P<0.001). Further, no change was observed in the thyroid and serum glucose levels, but the total cholesterol level decreased. GH therapy did not impact glucose control in the patients with diabetes. The most common adverse effects of GH therapy were the progression of scoliosis and adenoid hypertrophy. Conclusion : GH therapy improved the height SDS and body composition in patients with PWS. However, GH should be used with caution in patients with scoliosis and adenoid hypertrophy.

• Proceedings of the KOR-BRONCHOESO Conference
• /
• 1972.03a
• /
• pp.7-8
• /
• 1972

The effects of noise exposure are of two types: Nonauditory effects and auditory effects. Nonauditory effects of noise exposure are interference with communication by speech, sleeping and emotional behavior. The noise will cause the high blood pressure and rapid pulse, also that decrease the salivation and gastric juice. in experimentaly showed that the Corticoid hormon: Gonatotropic hormone were decrease and Thyrotropic hormoone is increase. Auditory effect of noise exposure. when the normal ear is exposed to noise at noise at hamful intensities (above 90㏈) for sufficiently long periods of time, a temoral depression of hearing results, disappearing after minutes or hours of rest. When the exposure longer or intesity greater is reached the Permanent threshold shift called noise-induced hearing loss. Hearing loss resulting from noise exposure presents legal as well as medical problems. The otologist who examines and evaluates the industrial hearing loss cases must be properly informed, not only concerning the otologic but also about the physical and legal aspects of the problems. The measurement of hearing ability is the most important part of a hearing conservation, both preplacement and periodic follow-up tests of hearing. The ideal hearing conservation program would be able to reduce or eliminate the hazardous noise at its source or by acoustic isolation of noisy working area and two ear protections (plugs and muff type) were developed for personal protection.

• Journal of Veterinary Clinics
• /
• v.22 no.2
• /
• pp.90-93
• /
• 2005

Itraconazole was found to be an effective antifungal for the treatment of canine Malassezia dermatitis (MD). MD was diagnosed in 18 dogs, which were treated with itraconazole administered orally at 5 mg/kg of body weight, q12hrs, for 21 to 30 days. High prevalence breeds of MD were Maltese $(22\%)$, Cocker Spaniel $(17\%)$, Pekingese $(11\%)$, and Vizsla $(11\%)$. The dermatological signs of Malassezia dermatitis were crust $(31\%)$, alopecia $(25\%)$, hyperpigmentation $(25\%)$, scales$(19\%)$, erythema $(13\%)$, lichenification $(11\%)$, pustule $(11\%)$, ear swelling$(11\%)$, papules $(5\%)$, and offensive odor $(5\%)$. Commonly affected areas were ear canal $(41\%)$, axillae $(18\%)$, groin $(15\%)$, perianal $(12\%)$, ventral aspect of the neck $(9\%)$, interdigital spaces$(1\%)$, and muzzle $(1\%)$. Sixty seven percent of dogs with MD had cocci. Clinical responses of itraconazole were seen good, moderate, no responses of itraconazole, in $89\%,\;0\%,\;and\;11\%$, respectively, according to the owner's satisfaction to follow up call. Recurrence was detected on five good responsive dogs and adverse effects of the treatment were detected in only one dog. On the basis of this clinical study, itraconazole is a good choice in the treatment of canine Malassezia dermatitis. Efficacy, frequency of administration and veterinary approval are the major advantages.