The deletion 9p syndrome is a well characterized syndrome with about one hundred cases having been reported. Most patients have dysmorphic facial features, cardiac anomalies, and mental retardation. We report on a female infant with micrognathia, corneal opacity, cleft palace, cardiac anomaly, left polycystic kidney, and deletion 9p. Chromosome analysis and fluorescence in situ hybridization (FISH) showed her to have a derived chromosome 9 inherited from a maternal t(9;16) (p22;p13.2) by adjacent I segregation There are few reports of this particular chromosome rearrangement. We review deletion Sp syndrome.
Chromosomes, Human, Pair 9 ; Corneal Opacity ; Female ; Fluorescence ; Humans ; In Situ Hybridization ; Infant ; Intellectual Disability ; Polycystic Kidney Diseases

The diagnosis of OPCA could be made clinically with important aid of brain CT scanning, although the definite and conclusive diagnosis only by postmortem pathological determination. We reviewed, clinically and with brain CT examination, 12 cases of patients with OPCA who were admitted to the Yeungnam University Hospital for a recent 5 years. The result were as following: 1. The distribution of age is from 49 to 72, mainly 50 to 60. Man is more frequent than women at the 4.5 times. 2. The interval period from Sx. Onset to diagnosis is 1 year to 6 years. 3. The usual initial Sxs. Were dizziness (58%), ataxia (33%), and other less frequent Sxs. Were weakness of low extremities, dysarthria, headache and urinary incontinence. The clinical manifestations at the initial diagnosis were cerebellar disturbance (100%), dysarthria (83%), and increased deep tendon reflexes (58%). 4. The results of brain CT finding are like this: the width of cerebellar sulci is more than 1mm, other 4 cases more than 2mm. the width of cerebellar pontine cistern of the patient if usually 3 to 4mm, other 2 cases extended to the 5 mm. the A. P and lateral lengths of 4th. ventricle is 4 mm and 4 to 8 mm respectively. 6 cases of whole patients show coincidentally cerebral atrophy.
Ataxia ; Atrophy ; Brain ; Clinical Study* ; Diagnosis ; Dizziness ; Dysarthria ; Extremities ; Female ; Headache ; Humans ; Olivopontocerebellar Atrophies* ; Reflex, Stretch ; Tomography, X-Ray Computed ; Urinary Incontinence

To evaluate the intractability of partial epileptic patients by variables, the author studied 113 patients (uncontrolled: 45, controlled: 68) who were admitted to the Department of Neurology, College of Medicine, Yeungnam University from January, 1991 to August, 1993. The results were as follows. The items related to complex partial seizures, multiple seizure types and a histories of status epilepticus or clusters of seizures were significantly associated with drug-refractoriness (p<0.01). A high frequency of seizures before evaluation was associated with a poor outcome(p<0.01). The presences of known etiology of seizures, neurologic abnormalities and psychiatric disturbance were associated with limited treatment responses(p<0.01, p<0.05, p<0.01). An abnormal EEG findings such as background slowing, focal slowing, epileptiform discharges or secondarily bilateral synchrony were statistically significant (p<0.01). Age at onset, sex, distribution of epileptic foci, duration of seizure before evaluation, family history and abnormal neuroradiologic findings were not statistically significant. By these results, it was suggested that having at least four factors of the above variables were associated with limited treatment response.
Electroencephalography ; Epilepsies, Partial* ; Humans ; Neurology ; Risk Factors ; Seizures ; Status Epilepticus

The Marfan syndrome is classified as a heritable disorder of connective tissue with clinical and pathological alterations involving supporting elements. In its classic form, the Marfan syndrome is associated with abnormalities of the eye(ectopia lentis), aorta(aortic dilatation and aortic regurgitation) and skeleton(dolichostenomelia, arachnodactyly and pectus deformity). The authers have experienced a case of marfan syndrome recently. The patient was 30-years-old male complaining of anterior chest pain radiating to upper back. Physical examination showed tall status, increased length of the limbs as compared with the trunk and arachnodactyly. On auscultation, heart sound was normal without murmur. He wore glasses because of moderate myopia. Roentgenogram of the chest P-A revealed normal cardiac and aortic contours and lung fields. Left lateral view of chest X-ray revealed concave depression of sternum showing mild pectus excavatum, fusiform dilatation of aorta from aortic root to mid portion of thoracic aorta and resulting in obliteration of retrosternal clear space. Echocardiogram demonstrated moderate dilatation of aortic root A-P diameter(4.5cm) without aortic or mitral valvular abnormalities and normal size of left ventricular cavity(EDD:5.3cm). These data coupled with a distinct family history could permit the diagnosis of Marfan syndrome.
Aorta ; Aorta, Thoracic ; Arachnodactyly ; Chest Pain ; Connective Tissue ; Depression ; Diagnosis ; Dilatation ; Extremities ; Eyeglasses ; Funnel Chest ; Glass ; Heart Auscultation ; Humans ; Lung ; Male ; Marfan Syndrome* ; Myopia ; Physical Examination ; Sternum ; Thorax

No abstract available.
Antibodies, Antineutrophil Cytoplasmic* ; Incidence*

Broncho-gastric fistula caused by benign gastric ulcer perforation after esophagectomy is very rare. In general anesthesia of a patient with broncho-gastric fistula, in spite of hyperventilation, leakage of the anesthetic gases through fistula may make the patient hypercapneic, and positive pressure ventilation may increase the risk of the pulmanary aspiration by the regurgitation of gastric fluid by stomach distension. For that reason, in this patient, denitrogenation was performed during patient's voluntary respiration with 100% oxygen for 5 minutes, and induction was performed without positive pressure ventilation, and one lung ventilation was carried out. Hypoxemia was followed by one lung ventilation because his pulmonary function was moderate obstructive type and his lung was damaged by aspiration of gastric fluid via broncho-gastric fistula. A low level of continuous positive airway pressure (CPAP) has no significant hemodynamic effect and can maintain the patency of nonventilated lung, so hypoxemia induced by one lung ventilation may be reduced. Thus we carried out one lung ventilation with CPAP (10 cmH2O) in nonventilated lung and blocked broncho-gastric fistula with a bronchial blocker for prevention of both regurgitation of gastric fluid and leakage of anesthetic gases. One lung anesthesia was performed without any problem in this case.
Anesthesia ; Anesthesia, General* ; Anesthetics, Inhalation ; Anoxia ; Continuous Positive Airway Pressure ; Esophagectomy ; Fistula* ; Hemodynamics ; Humans ; Hyperventilation ; Lung ; One-Lung Ventilation ; Oxygen ; Positive-Pressure Respiration ; Respiration ; Stomach ; Stomach Ulcer

The author studied 20 healthy adults (20 hands) as a control and 30 patients (40 hands) with carpal tunnel syndrome to evaluate the clinical usefulness of measuring nerve conduction velocity after wrist flexion in diagnosis of carpal tunnel syndrome. The median nerve conduction velocity over wrist to finger segment was measured before and after wrist flexion for 1, 2 and 5 minutes, using belly-tendon method for motor nerve distal latency (MNDL) and antidromic method for sensory nerve conduction velocity (SNCV). The results were as follows: 1. In control group, MNDL increased in 1 hand and SNCV decreased in 2 hands after wrist flexion. In patient group, MNDL increased in 2 hands and SNCV decreased in 3 hands after wrist flexion. 2. In both control and patient group, there were no significant changes in mean values of SNCV and MNDL between before and after wrist flexion. 3. Phalen's wrist flexion test was positive in 5 percent of control and 60 percent of patient group. 4. Tinel's sign was present in 10 percent of control and 33 percent of patient group.
Adult ; Carpal Tunnel Syndrome* ; Diagnosis ; Fingers ; Hand ; Humans ; Median Nerve ; Methods ; Neural Conduction* ; Wrist*

No abstract available.
Child* ; Humans ; Immunoglobulin G* ; Measles*

Acanthamoeba keratitis is uncommon and rarely reported in Korea. It has been reported in world literature as a very severe, progressive necrotizing stromal keratitis due to a non-parasitic free-living amoeba. It is frequently associated with minimal corneal trauma especially from contact lens but sometimes occurs in patients without any past history. We report a case of acanthamoeba keratitis without a specific past history in a 42-year-old man. Light and electron microscopy demonstrated severe stromal keratitis with numerous thick-walled cysts, 10~15 m in diameter, scattered in the superficial and deep stroma. Because this keratitis is most often mistaken for fungal, bacterial or herpetic keratitis, early confirmatory diagnosis by direct smear, biopsy or culture is essentially required for the prevention of visual loss or devastating eyeball loss.
Acanthamoeba Keratitis* ; Acanthamoeba* ; Adult ; Amoeba ; Biopsy ; Diagnosis ; Humans ; Keratitis ; Keratitis, Herpetic ; Korea ; Microscopy, Electron

The purpose of this study was to evaluate the effect of stroke on hypothalamic-pituitary axis using dexamethasone suppression test. The effects were evaluated according to age, sex, type, size, and lesion site of stroke. There tests were performed in 62 patients with stroke(cerebral infarction, 42 cases : intracerebral hemorrage, 20 cases) and 21 disabled controlled patients without intracranial diseases at Yeungnam University Hospital from June 1992 to June 1993. The results summarized as follows. 1. Cerebral infarction showed significantly higher frequency of DST non-suppression in stroke patients than control (p<0.05). 2. Patients with left hemisphere stroke showed more frequent abnormal neuroendocrine test results (p<0.01). 3. Patients with large infarction revealed strongly non-suppressed DST results(p<0.01). 4. Significantly higher basal cortisol level in patients with cerebral infarction was noted(p<0.01). 5. There are no statistical significance between DST results and sex, age, motor impairment, type of cerebral infarction.
Cerebral Infarction ; Dexamethasone* ; Humans ; Hydrocortisone ; Infarction ; Stroke*