No abstract available.
Child* ; Humans ; Nephrosis, Lipoid* ; Rifampin*

No abstract available.
Cataract* ; Nephrotic Syndrome*

Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are still unclear. To investigate genotype-phenotype correlation in GS and Gitelman-like syndrome, we enrolled 34 patients who showed hypokalemic metabolic alkalosis without secondary causes. Mutation analysis of SLC12A3 and CLCNKB was performed. Thirty-one patients had mutations in SLC12A3, 5 patients in CLCNKB, and 2 patients in both genes. There was no significant difference between male and female in clinical manifestations at the time of presentation, except for early onset of symptoms in males and more profound hypokalemia in females. We identified 10 novel mutations in SLC12A3 and 4 in CLCNKB. Compared with those with CLCNKB mutations, patients with SLC12A3 mutations were characterized by more consistent hypocalciuria and hypomagnesemia. Patients with 2 mutant SLC12A3 alleles, compared with those with 1 mutant allele, did not have more severe clinical and laboratory findings except for lower plasma magnesium concentrations. Male and female patients did not differ in their requirement for electrolyte replacements. Two patients with concomitant SLC12A3 and CLCNKB mutations had early-onset severe symptoms and showed different response to treatment. Hypocalciuria and hypomagnesemia are useful markers in differentiation of GS and classical Bartter's syndrome. Gender, genotypes or the number of SLC12A3 mutant alleles cannot predict the severity of disease or response to treatment.
Adolescent ; Adult ; Alleles ; Bartter Syndrome/genetics/pathology ; Chloride Channels/*genetics ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genotype ; Gitelman Syndrome/*genetics/pathology ; Humans ; Hypokalemia/etiology ; Male ; Middle Aged ; Phenotype ; Polymorphism, Genetic ; Solute Carrier Family 12, Member 3/genetics ; Young Adult

BACKGROUND: Despite aggressive treatment, the mortality rate of cardiogenic shock with acute myocardial infarction (AMI) is high. We performed extracorporeal membrane oxygenation (ECMO) prior to coronary reperfusion, and evaluated the early clinical results and risk factors. MATERIALS AND METHODS: From May 2006 to November 2009, we reviewed the medical records of 20 patients in cardiogenic shock with AMI (mean age 67.7+/-11.7 yrs, M : F 14 : 6). After initially performing ECMO using the CAPIOX emergency bypass system (EBS(R)Terumo, Tokyo, Japan), patients underwent coronary reperfusion (coronary artery bypass grafting, 13; percutaneous coronary intervention, 7). RESULTS: All patients were in a cardiogenic shock state, cardiopulmonary resuscitations (CPR) were performed for fourteen patients (mean CPR time 20.8+/-26.0 min). The mean time from vascular access to the initiation of ECMO was 17.2+/-9.4 min and mean support time was 3.8+/-4.0 days. Fourteen patients were able to be weaned from ECMO and ten patients were discharged (mean admission duration 50.1+/-31.6 days). Patients survived on average 476.6+/-374.6 days of follow-up. Longer CPR and support time, increased cardiac enzyme, lower ejection fraction, lower albumin, and major complications were the risk factors of mortality (p<0.05). CONCLUSION: The early application of ECMO prior to coronary reperfusion and control of risk factors allowed for good clinical results in cardiogenic shock with AMI.
Arteries ; Cardiopulmonary Resuscitation ; Emergencies ; Extracorporeal Membrane Oxygenation ; Follow-Up Studies ; Humans ; Medical Records ; Myocardial Infarction ; Myocardial Reperfusion ; Percutaneous Coronary Intervention ; Resuscitation ; Risk Factors ; Shock, Cardiogenic ; Tokyo ; Transplants

BACKGROUND: Despite aggressive treatment, the mortality rate of cardiogenic shock with acute myocardial infarction (AMI) is high. We performed extracorporeal membrane oxygenation (ECMO) prior to coronary reperfusion, and evaluated the early clinical results and risk factors. MATERIALS AND METHODS: From May 2006 to November 2009, we reviewed the medical records of 20 patients in cardiogenic shock with AMI (mean age 67.7+/-11.7 yrs, M : F 14 : 6). After initially performing ECMO using the CAPIOX emergency bypass system (EBS(R)Terumo, Tokyo, Japan), patients underwent coronary reperfusion (coronary artery bypass grafting, 13; percutaneous coronary intervention, 7). RESULTS: All patients were in a cardiogenic shock state, cardiopulmonary resuscitations (CPR) were performed for fourteen patients (mean CPR time 20.8+/-26.0 min). The mean time from vascular access to the initiation of ECMO was 17.2+/-9.4 min and mean support time was 3.8+/-4.0 days. Fourteen patients were able to be weaned from ECMO and ten patients were discharged (mean admission duration 50.1+/-31.6 days). Patients survived on average 476.6+/-374.6 days of follow-up. Longer CPR and support time, increased cardiac enzyme, lower ejection fraction, lower albumin, and major complications were the risk factors of mortality (p<0.05). CONCLUSION: The early application of ECMO prior to coronary reperfusion and control of risk factors allowed for good clinical results in cardiogenic shock with AMI.
Arteries ; Cardiopulmonary Resuscitation ; Emergencies ; Extracorporeal Membrane Oxygenation ; Follow-Up Studies ; Humans ; Medical Records ; Myocardial Infarction ; Myocardial Reperfusion ; Percutaneous Coronary Intervention ; Resuscitation ; Risk Factors ; Shock, Cardiogenic ; Tokyo ; Transplants

PURPOSE:To describe the clinical features and surgical outcomes of congenital cataracts in patients with oculocerebrorenal syndrome. METHODS: We retrospectively analyzed the age, sex, types of cataracts, operation method and time, perioperative visual acuity, postoperative intraocular pressure, and associated ocular disease in 10 patients (20 eyes) that had been diagnosed with congenital cataracts associated with oculocerebrorenal syndrome and undergone cataract surgery with a minimum follow-up period of 1 year. RESULTS: All 10 patients were male and had bilateral cataracts detected on their first full ophthalmic examination. The mean age at diagnosis was 2.5 (2.5+/-1.4) months, and the mean duration of the follow-up period was 4.9 (4.9+/-4.2) years. The types of cataracts were nuclear sclerosis in 18 eyes of nine patients and cortical opacity in two eyes of one patient. All patients underwent irrigation and aspiration of the lenses, posterior capsulectomy and anterior vitrectomy in both eyes before the age of 1 year. Nine patients (18 eyes) underwent cataract extraction before the age of 6 months, and three patients (6 eyes) underwent the surgery before the age of 2 months. Secondary intraocular lens implantation was done in six eyes of three patients at the age of 34 (34+/-13.2) months. Postoperative best corrected visual acuity ranged from light perception to 0.15. Out of the nine patients who underwent cataract extraction before the age of 6 months, seven patients could fix and follow objects moderately. The visual acuity of patient who underwent cataract extraction of each eye at the age of 9 months and 12 months was hand motion. In addition to cataracts, glaucoma occurred in three eyes of two patients, corneal opacity in two eyes of one patient and strabismus in three patients. CONCLUSIONS: Visual acuity after cataract surgery was poor in patients with oculocerebrorenal syndrome, especially when the diagnosis and surgery was delayed. Earlier identification and surgical removal of cataracts is recommended. Patients should be monitored regularly for other ocular diseases such as glaucoma, corneal opacity and strabismus.
Cataract ; Cataract Extraction ; Corneal Opacity ; Eye ; Follow-Up Studies ; Glaucoma ; Hand ; Humans ; Intraocular Pressure ; Lens Implantation, Intraocular ; Light ; Male ; Oculocerebrorenal Syndrome ; Retrospective Studies ; Sclerosis ; Strabismus ; Visual Acuity ; Vitrectomy

We describe a case of insulin-dependent diabetes mellitus(lDDM) with a mutation at nucleotide 3243 of mitochondrial DNA. A 24-years-old female presented with recurrent episodes of generalised tonic clonic seizures, cognitive decline, short stature, bilateral sensory neural hearing loss, bilateral optic neuropathy, lactic acidosis, and basal ganglia calcifications in addition to IDDM. Maternal transmission of the disease was suggested, by the fact that her mother have died of diabetic complications of the age of 50. Heteroplasmy of wild type and mutant mitochondrial DNA derived from peripheral leucocytes was detected by Apa I digestion of the polymerase chain reaction products amplified with a set of primer for tBNALUR(UUR) Adenosin-to guanidine substitution, occurring at nucleotide position 3243 in tRNALUR(UUR) gene in comparison with reference sequences was confirmed.
Acidosis, Lactic ; Basal Ganglia ; Diabetes Complications ; Diabetes Mellitus* ; Diabetes Mellitus, Type 1 ; Digestion ; DNA, Mitochondrial* ; Female ; Guanidine ; Hearing Loss, Bilateral ; Humans ; Insulin* ; MELAS Syndrome ; Mothers ; Optic Nerve Diseases ; Point Mutation* ; Polymerase Chain Reaction ; Seizures

Oculocerebrorenal syndrome of Lowe(OCRL) is a rare X-linked disorder characterized by congenital cataract(oculo-), hypotonia, developmental delay, cognitive impairment(cerebro-), renal tubular dysfunction(renal), and growth retardation. Recently, the defective gene, OCRL-1 gene encoding [PtdIns(4,5)P2] 5-phosphatase, was cloned with mutations identified in patients. Although there have been about 200 cases of OCRL reported in English literature, only three reports have been published in our country including two from an ophthalmologic point of view. This is a case report of two patients diagnosed with OCRL at our hospital. The diagnosis was based on characteristic clinical manifestations involving three major systems(eyes, central nervous system and kidneys) and MRI findings of the brain. There are no specific therapy for this disorder yet, and we provided ophthalologic treatment for congenital cataract, rehabilitation therapy for neurologic symptoms, and supportive therapy for renal Fanconi syndrome. We expect that a molecular genetic diagnosis and gene therapy will be available in the near future.
Brain ; Cataract ; Central Nervous System ; Clone Cells ; Diagnosis ; Fanconi Syndrome ; Genetic Therapy ; Humans ; Magnetic Resonance Imaging ; Molecular Biology ; Muscle Hypotonia ; Neurologic Manifestations ; Oculocerebrorenal Syndrome* ; Rehabilitation

We found an error in our published article. Author name should be corrected.

No abstract available.
Communicable Diseases* ; Emigrants and Immigrants* ; Humans ; Korea ; Vaccination*