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Biomedical subjects

K Niijima

Publications and source records attributed to K Niijima.

At least 19 recordsLinked to original sources
PubMed2002

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.

BACKGROUND: Early-onset ataxia with hypoalbuminemia is regarded as a variant form of Friedreich ataxia in Japan. Early-onset ataxia with hypoalbuminemia and ataxia with ocular motor apraxia have been considered as the same clinical entity because of the recent identification of a common mutation in the aprataxin gene. A new clinical entity named early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) has been proposed to explain these two diseases. OBJECTIVE: To disclose the clinical features of EAOH and to identify the mutations in the aprataxin gene in six patients in four Japanese families with EAOH. METHODS: The clinical features, laboratory findings, sural nerve biopsy results, and brain MRI or CT findings for these patients were evaluated, and molecular analysis was performed, which involved sequencing of the aprataxin gene directly or use of the subcloning method. RESULTS: Cerebellar ataxia and peripheral neuropathy were noted in all six patients. Ocular motor apraxia was observed in five patients; two of these patients had obvious head thrust. Choreiform movements of the limbs and mental deterioration were observed in five patients. Although foot deformity was noted in five patients, kyphoscoliosis was noted only in one patient. In all patients, hypoalbuminemia and hypercholesterolemia were evident, and brain MRI or CT showed marked cerebellar atrophy. Nerve biopsy revealed depletion of large myelinated fibers in three of the five patients examined. Molecular analysis of the aprataxin gene revealed an insertion mutation (insT at nt167) and two missense mutations (A-to-G transition at nt80 and C-to-T transition at nt95, the former being novel). CONCLUSION: We found clinical heterogeneity in the patients with EAOH in this study. With the disease course, the choreiform movements tended to reduce in degree, and hypoalbuminemia became evident. Molecular analysis identified one insertion and two missense mutations including a novel missense one, which was located at a highly conserved amino acid residue in the aprataxin gene product.

Adult↗
PubMed2001

A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study.

We studied a large Japanese family with autosomal dominant pure hereditary spastic paraplegia (ADPHSP) clinically and genetically. To date, seven loci causing ADPHSP have been mapped to chromosomes 14q, 2p, 15q, 8q, 12q, 2q, and 19q. Among these loci, the SPG4 locus on chromosome 2p21--p22 has been shown to account for approximately 40% of all autosomal dominant hereditary spastic paraplegia (ADHSP) families. Very recently, Hazan et al. identified the SPG4 gene encoding a new member of the AAA (ATPases associated with diverse cellular activities) protein family, named spastin. We found a novel insertion mutation (nt1272--1273insA) in exon 8 of the SPG4 gene in the present family. Our study is the first to confirm the causative mutation of the SPG4 gene in Japanese. Clinically, it is noteworthy that the disease progression in the patients of this family was slow in spite of the late onset, and more than half of the patients showed severe constipation in addition to pure spastic paraplegia.

Adenosine Triphosphatases↗
PubMed2000

[A case of free rupture of abdominal aortic aneurysm into the peritoneal cavity during posture change after induction of anesthesia].

We report a case in which posture change for radiography after induction of anesthesia caused free rupture of the abdominal aortic aneurysm (AAA) into the peritoneal cavity, resulting in shock, although in the patient an AAA had ruptured into only the retroperitoneal space and hemodynamics had been stable preoperatively. The massive bleeding was controlled with autotransfusion using a washing salvaging autotransfusion device and a roller pump for hemodialysis. In addition, international mild hypothermia was effective for protection of the brain from suspected ischemia during shock. Meticulous attention should be paid for anesthetic management of patients with ruptured AAA even if their hemodynamic status is stable.

Aged↗
PubMed2000

[Anesthetic management of a patient with deep venous thrombosis using temporary inferior vena cava filter].

A patient with deep venous thrombosis caused by a huge uterine leiomyoma underwent abdominal hysterectomy. To prevent pulmonary thromboembolism, the patient received anticoagulant therapy until 6 hr before surgery and temporary inferior vena cava filter was placed. A combination of preoperative anticoagulant therapy and the filter placement during perioperative period enabled this patient to be successfully-managed.

Anesthesia, General↗
PubMed2000

[Anesthetic management for an adult patient with secundum atrial septal defect associated with a large left-to-right shunt].

We describe the case of a 68-year-old woman with secundum atrial septal defect associated with a large left-to-right shunt and congestive heart failure. The patient with a pancreatic tumor was scheduled for hepatic cholangiojejunostomy and cholecystectomy. To determine the ratio of pulmonary to systemic flow (Qp/Qs) as an indicator for the magnitude of left-to-right shunt, oxymetric catheters were placed in the superior vena cava and pulmonary artery. In addition, oxygen delivery was assessed using superior vena cava oxygen saturation (SsvcO2). Although the patient was anesthetized with high-dose fentanyl to supplement nitrousoxide and sevoflurane, the Qp/Qs markedly increased after skin incision. Epidural local anesthetic was then administered. The Qp/Qs decreased to the preoperative value and the hemodynamic condition was improved thereafter. The operative course was uneventful. This case illustrates the potential usefulness of continuous measurement of the Qp/Qs and SsvcO2 for anesthetic management of adult patients with secundum atrial septal defect.

Aged↗
PubMed1999

Malposition of the epiglottis after tracheal intubation via the intubating laryngeal mask.

The intubating laryngeal mask has been reported to be a successful method of tracheal intubation although advancement of the tracheal tube via the laryngeal inlet into the trachea cannot be seen. Damage to the larynx or other tissues may occur during blind passage of a tracheal tube. We report a case in which the tracheal tube, advanced blindly, tucked the epiglottis into the laryngeal inlet, resulting in oedema of the epiglottis. This case illustrates the potential for airway obstruction after extubation when using the intubating laryngeal mask as a blind intubation guide.

Epiglottis↗
PubMed1999

[Anesthetic management of a patient with Bartter's syndrome].

A 48-year-old woman with Bartter's syndrome underwent right mastectomy under general anesthesia. Her operative course was uneventful. She was preoperatively complicated with severe hypokalemia but had no signs and symptoms of hypokalemia. In anesthetic care of patients with Bartter's syndrome, even when they have no symptoms of hypokalemia, the meticulous intravenous administration of potassium chloride is required in order to maintain the preoperative level of the serum potassium during anesthesia. In addition, attention should be paid to factors causing an additional reduction in the serum potassium concentration, such as alkalosis, elevated beta 2-adrenergic activity, increased availability of insulin and hypothermia.

Anesthesia, General↗
PubMed1998

[Radical endovascular surgery of a huge cavernous internal carotid artery aneurysm of an aged patient].

A case of a huge aneurysm of the cavernous portion of the internal carotid artery (ICA) is reported. The aneurysm was successfully treated by endovascular surgery. A 78-year-old woman presenting with mild headache and cavernous sinus syndrome on the left side was incidentally disclosed to have a huge aneurysm at the cavernous portion of the left ICA by MRI and MRA. An angiogram revealed that the aneurysm had a broad neck. In view of patient's age, concomitant coronary ischemia and wide aneurysmal neck, endovascular surgery under local anesthesia was thought to be the treatment of choice. The aneurysmal sac was completely embolized with platinum coils and the ICA by a balloon proximal to the aneurysm. Over the 5 months period, the patient's symptoms has all disappeared save for mild abducens palsy. It is believed that neck clipping is the method of treatment of intracranial aneurysms. However, endovascular surgery is less invasive and may be applicable to some of high risk patients.

Aged↗