Familial hemiplegic migraine(FHM) is an autosomal dominant subtype of migraine with aura, characterized by the occurrence of hemiplegia during the aura. Two subforms of FHM families exist; pure FHM in 80% and FHM families with cerebellar symptoms in 20%. Half of the known FHM families show genetic linkage to chromosome 19p13, and in these families FHM is caused by missense mutations in a neuronal P/Q type calcium channel alpha-1 subunit gene(CACNA1A gene). Linkages to 1q31 and 1q21-23 have also been established. Other families are linked neither to chromosome 19 nor 1. Clinical variabilities are partially associated with the various types of CACNA1A gene mutations. FHM is distinguished from more frequent migraine types by a clear, dominant inheritance pattern and the relative absense of other headache types. Further investigation of FHM will help to clarify the genetics of more common migraine. We describe a male patient with FHM with a brief review of the literature.
Calcium Channels ; Chromosomes, Human, Pair 19 ; Epilepsy ; Genetic Linkage ; Genetics ; Headache ; Hemiplegia ; Humans ; Inheritance Patterns ; Male ; Migraine Disorders ; Migraine with Aura* ; Migraine without Aura ; Mutation, Missense ; Neurons

PURPOSE: The prevalence of atopic diseases has been increasing remarkably. The less frequent opportunities for infection early in life, especially mycobacteria exposure, parallel this higher prevalence of atopic diseases. Bacille Calmette-Gu rin (BCG), a potent inducer of Th1 immune response, has been suggested to suppress Th2 response which is known to mediate IgE-mediated atopic disorders. This study was done to investigate whether there is any relation between the number of BCG scars and the prevalence of atopic disorders in early childhood. METHODS: We surveyed 393 parents with a children who were given percutaneous multi- puncture BCG vaccination within four weeks after birth. The main questions concerned the past history and present illness of physician-diagnosed atopic diseases (atopic dermatitis, bronchial asthma, and allergic rhinitis), the number of BCG scars (range; 0-18), and potential confounders such as gender, parental atopy, maternal smoking and environmental cofactors. The prevalence rate of each atopic disease was measured and analysed according to the number of BCG scars. RESULTS: Each prevalence rate was 18.1% for atopic dermatitis, 9.4% for bronchial asthma, 14.6% for allergic rhinitis, and 32.3% for any of them. All of them had received BCG vaccination during the first four weeks of life. The children with 15 or more BCG scars had a significantly lower prevalence of any atopic disease (22/99, 22.2%) as compared to those with four scars or less (51/125, 40.8%) by simple regression analysis. (P value=0.02) But this association was not significant after controlling for potential confounders. (P value= 0.26) CONCLUSION: This survey demonstrated a weak relation between a larger number of BCG scars and less atopy development at early childhood. But the relation was not so significant. Further studies are needed.
Asthma ; Child ; Cicatrix* ; Dermatitis ; Dermatitis, Atopic ; Humans ; Mycobacterium bovis* ; Parents ; Parturition ; Prevalence ; Punctures ; Rhinitis ; Smoke ; Smoking ; Vaccination

PURPOSE: The aims of this study were to investigate the incidence of rehospitalization for very low birth weight (VLBW) infants due to respiratory illness during the first year of life, and to examine the association between rehospitalization with respiratory distress syndrome (RDS) and duration of mechanical ventilation. METHODS: Twenty-three VLBW infants admitted to neonatal intensive care unit (NICU) at Dae-Dong Hospital from January 1996 to December 2002 were studied. Twenty-three of full-term infants born from January 2001 to December 2002 at Dae-Dong Hospital were studied as control group. Parental questionnaire were collected and hospital records of VLBW infants and control group were reviewed retrospectively. RESULTS: The rate of rehospitalization for respiratory illness in VLBW infants (16/23, 69%) was greater than that of term infants (6/23, 26%) (P< 0.05). Ventilated group with RDS (14/ 19, 73%) in VLBW infants had more rehospitalization compared to non-ventilated group (2/4, 50%) (P< 0.05). Those with ventilator care longer than 7 days (7/7, 100%) had more rehospitalization than those with ventilator care less than seven days (7/12, 58%) (P< 0.05). Fifty nine percent of rehospitalization occurred from December to March. Sixty five percent of rehospitalized infants required admissions between 5 and 8 months after NICU discharge. CONCLUSION: VLBW infants are more likely to have rehospitalization with respiratory illness during first year, especially VLBW infants with RDS and prolonged care of mechanical ventilation. It is important to prevent these susceptible infants from respiratory infections and to follow-up them periodically because VLBW infants tend to show decreased pulmonary function subsequently.
Follow-Up Studies ; Hospital Records ; Humans ; Incidence ; Infant* ; Infant, Newborn ; Infant, Very Low Birth Weight* ; Intensive Care, Neonatal ; Parents ; Surveys and Questionnaires ; Respiration, Artificial ; Respiratory Tract Infections ; Retrospective Studies ; Ventilators, Mechanical

We experienced three cases of high signal intensity observed by Brain Magnetic Resonance Imaging in CO2 arc welders of steel-frame manufacturing industry. Case 1 was a 35 years old man who has been an CO2 arc welder for 10 years, admitted a sudden onset of tonic clonic seizure. He complained fever, chilling and myalgia since 3 days before admission. On admission, in the test of manganese exposure indices, manganese concentrations of blood, urine and scalp hair were 5.17 microgram/dL, 22.00 microgram/l and 31.25 ppm respectively. Case 2 was a 35 years old man who has been an CO2 arc welder for 20 years. On admission, He complained fatigue, numbness and weakness of extremities, and decrease of libido. In the test of manganese exposure indices, manganese concentrations of blood, urine and scalp hair were 6.34 microgram/dL, 14.62 microgram/l and 57.87 ppm respectively. In neurologic examination, Palmo-mentis reflex and Myerson sign were observed. Case 3 was a 33 years old man who has been an CO2 arc welder for 16 years. On admission, He complainer loss of appetite, numbness of extremities, fatigue and decrease of attention. In the test of manganese exposure indices, manganese concentrations of blood, urine and scalp hair were 5.14 microgram/dL, 13.79 microgram/l and 50.08 ppm respectively. In neurologic examination, Myerson sign was observed. In brain magnetic resonance imaging, T1WI showed symmetrical high signal intensity in basal ganglia and midbrain of three cases. Authors argued that they were developed by manganese exposure, and we considered that follow up study would be necessary.
Adult ; Appetite ; Basal Ganglia ; Brain* ; Extremities ; Fatigue ; Fever ; Follow-Up Studies ; Hair ; Humans ; Hypesthesia ; Libido ; Magnetic Resonance Imaging* ; Manganese ; Mesencephalon ; Myalgia ; Neurologic Examination ; Reflex ; Scalp ; Seizures

The diagnosis of fixed drug eruption is straightforward because of characteristic findings, including recurrence of similar lesions at the same site and healing with residual hyperpigmentation. However, generalized or multiple fixed drug eruption, a rare variant form, can be a diagnostic challenge. Acebrophylline is a widely prescribed oral bronchodilator with mucosecretolyic and anti-inflammatory activity and is known to be relatively safe. A 34-year-old woman presented with recurrent numerous erythematous patches after ingestion of cold medications containing clarithromycin, loxoprofen, acebrophylline, and pseudoephedrine. Skin biopsy results showed vacuolar degeneration of the basal cell layer, scattered necrotic keratinocytes in the epidermis, and perivascular lymphohistiocytic infiltration in the upper dermis. A patch test showed negative results. However, in an oral challenge with acebrophylline 3 hours later, lesions reappeared at the same sites. To the best of our knowledge, this is the first case report of acebrophylline-induced generalized fixed drug eruption.
Adult ; Biopsy ; Clarithromycin ; Dermis ; Diagnosis ; Drug Eruptions* ; Eating ; Epidermis ; Female ; Humans ; Hyperpigmentation ; Keratinocytes ; Patch Tests ; Pseudoephedrine ; Recurrence ; Skin

PURPOSE: Gastric cancer with lymph node metastasis (LNM) more than 15 (N3b) was defined as stage IV until the 6th AJCC system. However, it has been reclassified as a localized disease (stage IIb or III) since the 7th system. The aim of this study is to demonstrate that the survival of N3b is comparable to cytology-only positive (CY1-only) stage IV and to propose a new TNM system interpreting N3b as an eligibility criterion for receiving more intensive chemotherapy regimens. MATERIALS AND METHODS: 1,430 patients who underwent gastric cancer surgery at Seoul National University Hospital from 2007 to 2012 were retrospectively analyzed. The 5-year survival rate (5YSR) and 3-year recurrence-free survival (RFS) were evaluated according to the 7th and 8th systems, as well as a new categorization based on N-classification; N0-2 (LNM<7), N3a (LNM 7–15), or N3b (LNM>15). RESULTS: The survival of N3b is comparable to that of CY1-only stage IV (log rank test, P=0.671) and is distinct from that of grossly stage IV (log rank test, P<0.001). The survival of the remaining stage IIIc (T4bN3a) was comparable to those of N3b and CY1-only stage IV. Most N3b patients had significantly shorter 3-year RFS and mean RFS than those with IIb–IIIc, as if N3b itself was a higher TNM stage. CONCLUSIONS: In terms of survival, T4bN3a, N3b, and CY1-only stage IV were unified as stage IVa, while grossly stage IV was defined as stage IVb. N3b can be regarded as an eligibility criterion for undergoing more intensive chemotherapy regimens.
Classification ; Drug Therapy ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Retrospective Studies ; Seoul ; Stomach Neoplasms ; Survival Rate