Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

BACKGROUND AND OBJECTIVES: In the treatment of oral cancer, appropriate surgical approaches should be chosen in order to eradicate cancer while preserving the function of oral cavity and facial contour. This study was performed to evaluate the usefulness and effectiveness of various surgical approaches in the surgical treatment of oral cancer. SUBJECTS AND METHOD: A total of 112 oral cancer patients, excepting those with lip cancer, and who underwent surgery from 1994 to Aug 2008, were enrolled. We reviewed medical records retrospectively and analyzed the primary sites, stage, surgical approaches, management of mandible and neck, reconstruction methods, recurrence and survival rates. RESULTS: Of the 112 patients, 64 were transoral, 23 pull-through, 6 mandibular lingual releasing, 6 upper cheek flap , 5 lower cheek flap , 6 mandibulotomy and 2 visor flap approach. Most of T1, T2 lesions could be resected by transoral (71.6%) or pull-through approach (21.0%). In the advanced T3, T4 lesions, transoral (21.9%), pull-through (37.5%), cheek flap (21.9%), mandibulotomy (15.6%) were used. There was no statistically significant difference with respect to locoregional recurrence and survival rate according to surgical approach. CONCLUSION: The transoral approach was the effective method for the surgery of T1, T2 and part of T3 oral cancer. The pull-through or mandibular lingual releasing approach was the effective method of surgery for T2, T3 tongue or floor of mouth (FOM) cancer while avoiding mandibulotomy.
Cheek ; Humans ; Lip Neoplasms ; Mandible ; Medical Records ; Mouth ; Mouth Floor ; Mouth Neoplasms ; Neck ; Recurrence ; Retrospective Studies ; Survival Rate ; Tongue

We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.
Arm ; Chimera ; Cytogenetics ; Failure to Thrive ; Fluorescence ; Humans ; In Situ Hybridization ; Karyotype ; Phenotype ; Ring Chromosomes

A 58-years-old man came to the hospital because of progressive intellectual deterioration, gait disturbance and postural instability for 6 months. Neuropsychological tests showed severe impairment of memory and executive functions, and dural arteriovenous fistula of the superior sagittal sinus (dAVF of SSS) was found on brain MRI and angiography. The symptoms were markedly improved after selective transvascular embolization treatments. Even though the dAVF of SSS is a rare cause of dementia, we suggest that it can be one of the treatable causes of dementia.
Angiography ; Brain ; Central Nervous System Vascular Malformations* ; Dementia* ; Executive Function ; Gait ; Magnetic Resonance Imaging ; Memory ; Neuropsychological Tests ; Superior Sagittal Sinus*

Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations.
Adult ; Brain ; DNA, Mitochondrial ; Female ; Genome, Mitochondrial ; Humans ; Leigh Disease* ; Magnetic Resonance Imaging* ; Metabolism ; Mitochondrial Diseases ; Nervous System

PURPOSE: This study was aimed to identify the effect of self-foot reflexology on the relief of premenstrual syndrome and dysmenorrhea in high school girls. METHOD: Study subjects was 236 women residing in the community, teachers and nurses who were older than 45 were recruited. Data was collected with self administered questionnaires from July 1st to August 31st, 2003 and analysed using SPSS/WIN 10.0 with Xtest, t-test, and stepwise multiple logistic regression at a significant level of =.05. RESULT: The breast cancer screening rate was 57.2%, and repeat screening rate was 15.3%. With the multiple logistic regression analysis, factors associated with mammography screening were age and perceived barriers of action, and factors related to the repeat mammography screening were education level and other cancer screening experience. CONCLUSION: Based on the results, we recommend the development of an intervention program to decrease the perceived barrier of action, to regard mammography as an essential test in regular check-up, and to giveactive advertisement and education to the public to improve the rates of breast cancer screening and repeat screening.
Adolescent ; Dysmenorrhea/*therapy ; Female ; *Foot ; Humans ; *Massage ; Premenstrual Syndrome/*therapy

PURPOSE: This study was aimed to identify the effect of self-foot reflexology on the relief of premenstrual syndrome and dysmenorrhea in high school girls. METHOD: Study subjects was 236 women residing in the community, teachers and nurses who were older than 45 were recruited. Data was collected with self administered questionnaires from July 1st to August 31st, 2003 and analysed using SPSS/WIN 10.0 with Xtest, t-test, and stepwise multiple logistic regression at a significant level of =.05. RESULT: The breast cancer screening rate was 57.2%, and repeat screening rate was 15.3%. With the multiple logistic regression analysis, factors associated with mammography screening were age and perceived barriers of action, and factors related to the repeat mammography screening were education level and other cancer screening experience. CONCLUSION: Based on the results, we recommend the development of an intervention program to decrease the perceived barrier of action, to regard mammography as an essential test in regular check-up, and to giveactive advertisement and education to the public to improve the rates of breast cancer screening and repeat screening.
Adolescent ; Dysmenorrhea/*therapy ; Female ; *Foot ; Humans ; *Massage ; Premenstrual Syndrome/*therapy

In order to investigate the factors associated with family burdens of schizophrenics, 92 primary caregivers and 68 siblings of 92 persons with schizophrenia were examined by means of self-report scales about the effect of positive and negative symptom behaviors, clinical and sociodemographic variables, and guilty feelings toward patient on the objective and subjective burden. The results were as follows. 1) There was no difference in the objective and subjective burden scores between the primary caregivers and siblings, even though the former showed a higher scores compared to the latter. 2) Burden scores were significantly affected by the factors such as age of patients, duration of illness, total duration of hospitalizations, monthly family income, and the experience of family education in the primary caregivers or siblings of schizophrenics. 3) Objective and subjective burden were related to both the severity of positive, negative, and the other symptom behaviors in the primary caregivers and siblings. The positive and negative symptom behaviors were more related to subjective burdens compared to objective burdens in the primary caregivers and siblings. The positive symptom behaviors were more related to perceived objective and subjective burdens compared to negative symptom behaviors in the siblings. 4) The correlations between guilty feelings toward patient and burden scores was significant only in the primary caregivers. These results could be used as useful datas to develop the more effective family intervention for reducing family burden.
Caregivers* ; Education ; Hospitalization ; Humans ; Schizophrenia ; Siblings* ; Weights and Measures

A 7 year-old girl presented with generalized muscle weakness and delayed motor development. She was able to stand up at 15 months and began to walk at 4 years of age. A nerve conduction study showed severe demyelinating neuropa-thy .There was no family history of peripheral neuropathy, and her parents and younger brother were clinically and electrophysiologically normal. A sural nerve biopsy showed moderate loss of myelinated fibers with onion-bulb forma-tions. Many teased nerve fibers revealed typical tomaculous changes. However the molecular genetic study of the patient confirms the duplication of 17p11.2-p22 on a polymerase chain reaction using D17S261 as a primer but not in her parents.
Biopsy ; Charcot-Marie-Tooth Disease ; Child ; Female ; Genotype ; Humans ; Molecular Biology ; Muscle Weakness ; Myelin Sheath ; Nerve Fibers ; Neural Conduction ; Parents ; Peripheral Nervous System Diseases ; Phenotype ; Polymerase Chain Reaction ; Siblings ; Sural Nerve

Subacute sensory neuropathies associated with primary Sjogren's syndrome have been reported rarely. We describe a woman with primary Sjogren's syndrome who developed a widespread, pure sensory neuropathy with a subacute onset. An electrophysiological study showed the typical absence or decreased amplitude of sensory nerve action potentials (SNAPs). A sural nerve biopsy showed a loss of large myelinated fibers and axonal degeneration without inflammation. The clinical course of long-standing subacute sensory neuropathy, the biopsy-documented axonal degeneration, and the neurophysiological findings suggest involvement of the dorsal root ganglia.
Action Potentials ; Axons ; Biopsy ; Female ; Ganglia, Spinal ; Humans ; Inflammation ; Myelin Sheath ; Peripheral Nervous System Diseases ; Sjogren's Syndrome* ; Sural Nerve