Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper- CKemia), RMD, and distal myopathy. We report a patient with a CAV3 mutation who presented with myalgia, exercise-induced muscle stiffness, hyperCKemia, and percussion-induced rapid muscle contraction and muscle mounding. A familial genetic study revealed the same mutation in two family members, with physical examinations showing that both of them had rippling muscles.

Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper- CKemia), RMD, and distal myopathy. We report a patient with a CAV3 mutation who presented with myalgia, exercise-induced muscle stiffness, hyperCKemia, and percussion-induced rapid muscle contraction and muscle mounding. A familial genetic study revealed the same mutation in two family members, with physical examinations showing that both of them had rippling muscles.

Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper- CKemia), RMD, and distal myopathy. We report a patient with a CAV3 mutation who presented with myalgia, exercise-induced muscle stiffness, hyperCKemia, and percussion-induced rapid muscle contraction and muscle mounding. A familial genetic study revealed the same mutation in two family members, with physical examinations showing that both of them had rippling muscles.

Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper- CKemia), RMD, and distal myopathy. We report a patient with a CAV3 mutation who presented with myalgia, exercise-induced muscle stiffness, hyperCKemia, and percussion-induced rapid muscle contraction and muscle mounding. A familial genetic study revealed the same mutation in two family members, with physical examinations showing that both of them had rippling muscles.

We present a patient who complained of excessive daytime sleepiness (EDS), which started three years ago. She had no other medical, neurological, and psychiatric disorders. Nocturnal polysomnography did not indicate any sleep disorders, which might cause daytime EDS, such as obstructive sleep apnea. The following multiple sleep latency test was not compatible for narcolepsy. Her laboratory findings were remarkable for subclinical hypothyroidism, although free T4 and T3 were within reference rage, she had elevated thyroid stimulating hormone. After four weeks of levothyroxine treatment, her EDS resolved. The hypersomnolence, as a presenting symptom of subclinical hypothyroidism, was optimally treated after thyroid hormone replacement.
Disorders of Excessive Somnolence* ; Humans ; Hypothyroidism* ; Narcolepsy ; Polysomnography ; Rage ; Sleep Apnea, Obstructive ; Sleep Wake Disorders ; Thyroid Gland ; Thyrotropin ; Thyroxine*

Ross syndrome is characterized by a triad of segmental anhidrosis, tonic pupil, and generalized areflexia. Selective postganglionic autonomic denervation could be the differential diagnostic point for other diseases of the autonomic nervous system. Here we report a patient with regional anhidrosis in his left hand and sole, and anisocoria. An evaluation of sweating and the pupillary response together with generalized areflexia confirmed the diagnosis of Ross syndrome. The finger wrinkle test is a simple and useful tool for revealing segmental sympathetic denervation.
Anisocoria* ; Autonomic Denervation ; Autonomic Nervous System ; Diagnosis ; Fingers* ; Hand ; Humans ; Hypohidrosis* ; Sweat ; Sweating ; Sympathectomy ; Tonic Pupil

No abstract available.
Blinking* ; Cerebellopontine Angle* ; Neuroma, Acoustic*

No abstract available.
Blinking* ; Cerebellopontine Angle* ; Neuroma, Acoustic*

Lung transplantation has been successfully employed for variety of obstructive lung disease. Single lung transplantation has become a therapeutic option for end-stage obstructive lung disease. The patient, a 57 year old man with emphysema, suffered from severe dyspnea, which progressively aggravated him for the last three years. A single lung transplantation was performed from a young brain-dead donor on April 7th, 1999 in the department of thoracic surgery, Respiratory Center, Yongdong Severance hospital, yonsei University. The immunosuppressive regimen was based on cyclosporine A and azathioprine from beginning, adding steroid. Single lung transplantation was feasible and beneficial in patients with end-stage emphysema.
Azathioprine ; Cyclosporine ; Dyspnea ; Emphysema ; Humans ; Lung Diseases, Obstructive ; Lung Transplantation* ; Lung* ; Middle Aged ; Pulmonary Emphysema* ; Respiratory Center ; Thoracic Surgery ; Tissue Donors

A 30-year-old woman experienced severe abdominal pain 8 days after vaginal delivery. The patient was diagnosed with hemoperitoneum due to rupture of the left uterine artery pseudoaneurysm, which was confirmed via ultrasound with color Doppler and computed tomography scans. This patient was treated with bilateral uterine artery embolization to maintain fertility. A uterine artery pseudoaneurysm that causes delayed postpartum hemorrhage can occur after cesarean section or vaginal delivery. A uterine artery pseudoaneurysm can be fatal, so its detection and diagnosis are critical. Herein, we report a case of delayed postpartum hemoperitoneum due to uterine artery pseudoaneurysm rupture.
Abdominal Pain ; Adult ; Aneurysm, False* ; Cesarean Section ; Diagnosis ; Female ; Fertility ; Hemoperitoneum* ; Humans ; Postpartum Hemorrhage ; Postpartum Period* ; Pregnancy ; Rupture* ; Ultrasonography ; Uterine Artery Embolization ; Uterine Artery*