Bile acid synthesis disorders in Japan: long-term outcome and chenodeoxycholic acid treatment

2020 ◽  
Author(s):  
Akihiko Kimura ◽  
Tatsuki Mizuochi ◽  
Hajime Takei ◽  
Akira Ohtake ◽  
Jun Mori ◽  
...  
Keyword(s):  
Bile Acid ◽  
Chenodeoxycholic Acid ◽  
Low Dose ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Reductase Deficiency ◽  
Clinical Records

Abstract Background: We encountered 7 Japanese patients with bile acid synthesis disorders (BASD) over 21 years between 1996 and 2017. Diagnoses were made by bile acid and genetic analyses. We gave low-dose, long-term chenodeoxycholic acid (CDCA) treatment to 5 of the patients, who had 3β-hydroxy-Δ 5 -C 27 -steroid dehydrogenase/isomerase (3β-HSD) deficiency (n=3) or Δ 4 -3-oxosteroid 5β-reductase (5β-reductase) deficiency (n=2). Another patient with the latter diagnosis whose bile acid analyses had mitigating features was maintained on ursodeoxycholic acid according to parental preferences and now remains healthy after discontinuation of treatment. A patient with oxysterol 7α-hydroxylase deficiency developed liver failure and fully recovered after successful liver transplantation. We used clinical records to clarify long-term outcome and value of CDCA in the other patients. Efficacy of CDCA treatment was evaluated in the 5 patients given a low dose (5 to 10 mg/kg/day) for a long term. Results: Medians with ranges of current patient ages and duration of CDCA treatment are10 years (8 to 43) and 10 years (8 to 21), respectively. All 7 patients, who had homozygous or compound heterozygous mutations in the HSD3B7 , SRD5B1 , or CYP7B1 gene, are currently in good health without liver dysfunction. In the 5 patients with CDCA treatment, hepatic function gradually improved following initiation. No adverse effects were noted. Conclusions: We concluded that low-dose CDCA treatment is effective in 3β-HSD deficiency and 5β-reductase deficiency, as cholic acid has been in other countries. BASD carry a good prognosis following early diagnosis and initiation of long-term, low-dose CDCA treatment.

scholarly journals Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment

2021 ◽  
Author(s):  
Akihiko Kimura ◽  
Tatsuki Mizuochi ◽  
Hajime Takei ◽  
Akira Ohtake ◽  
Jun Mori ◽  
...  
Keyword(s):  
Bile Acid ◽  
Chenodeoxycholic Acid ◽  
Acid Treatment ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Term Outcome ◽  
Long Term Outcome

scholarly journals Cavernous Malformation of Brainstem, Thalamus, and Basal Ganglia

Neurosurgery ◽  
2012 ◽  
Vol 72 (4) ◽  
pp. 573-589 ◽  
Author(s):  
Paritosh Pandey ◽  
Erick M. Westbroek ◽  
Peter A. Gooderham ◽  
Gary K. Steinberg
Keyword(s):  
Basal Ganglia ◽  
Neurological Deficits ◽  
Term Outcome ◽  
Cavernous Malformations ◽  
Long Term Outcome ◽  
Brain Malformations ◽  
Hemorrhage Risk ◽  
Clinical Records

Abstract BACKGROUND: Cavernous malformations (CMs) in deep locations account for 9% to 35% of brain malformations and are surgically challenging. OBJECTIVE: To study the clinical features and outcomes following surgery for deep CMs and the complication of hypertrophic olivary degeneration (HOD). METHODS: Clinical records, radiological findings, operative details, and complications of 176 patients with deep CMs were reviewed retrospectively. RESULTS: Of 176 patients with 179 CMs, 136 CMs were in the brainstem, 27 in the basal ganglia, and 16 in the thalamus. Cranial nerve deficits (51.1%), hemiparesis (40.9%), numbness (34.7%), and cerebellar symptoms (38.6%) presented most commonly. Hemorrhage presented in 172 patients (70 single, 102 multiple). The annual retrospective hemorrhage rate was 5.1% (assuming CMs are congenital with uniform hemorrhage risk throughout life); the rebleed rate was 31.5%/patient per year. Surgical approach depended on the proximity of the CM to the pial or ependymal surface. Postoperatively, 121 patients (68.8%) had no new neurological deficits. Follow-up occurred in 170 patients. Delayed postoperative HOD developed in 9/134 (6.7%) patients with brainstem CMs. HOD occurred predominantly following surgery for pontine CMs (9/10 patients). Three patients with HOD had palatal myoclonus, nystagmus, and oscillopsia, whereas 1 patient each had limb tremor and hemiballismus. At follow-up, 105 patients (61.8%) improved, 44 (25.9%) were unchanged, and 19 (11.2%) worsened neurologically. Good preoperative modified Rankin Score (98.2% vs 54.5%, P = .001) and single hemorrhage (89% vs 77.3%, P < .05) were predictive of good long-term outcome. CONCLUSION: Symptomatic deep CMs can be resected with acceptable morbidity and outcomes. Good preoperative modified Rankin Score and single hemorrhage are predictors of good long-term outcome.

Long-Term Outcome of Low-Dose Rate Brachytherapy with I-125 Seeds as a Monotherapy for High-Risk Prostate Cancer Patients

Brachytherapy ◽  
2017 ◽  
Vol 16 (3) ◽  
pp. S55
Author(s):  
Takashi Kawanaka ◽  
Akiko Kubo ◽  
Chisato Tonoiso ◽  
Kondo Mihoko ◽  
Shunsuke Furutani ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
High Risk ◽  
Low Dose ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Low Dose Rate ◽  
High Risk Prostate Cancer ◽  
Risk Prostate Cancer ◽  
Low Dose Rate Brachytherapy

Low-dose ACTH therapy for West syndrome: Initial effects and long-term outcome

Neurology ◽  
2002 ◽  
Vol 58 (1) ◽  
pp. 110-114 ◽  
Author(s):  
M. Ito ◽  
H. Aiba ◽  
K. Hashimoto ◽  
S. Kuroki ◽  
K. Tomiwa ◽  
...  
Keyword(s):  
Low Dose ◽  
West Syndrome ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Acth Therapy

Complex basilar artery aneurysms treated using surgical basilar occlusion: a modern case series

2011 ◽  
Vol 115 (2) ◽  
pp. 319-327 ◽  
Author(s):  
Christopher P. Kellner ◽  
Raqeeb M. Haque ◽  
Philip M. Meyers ◽  
Sean D. Lavine ◽  
E. Sander Connolly ◽  
...  
Keyword(s):  
Basilar Artery ◽  
Case Series ◽  
Endovascular Techniques ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Complex Aneurysms ◽  
Long Term Follow Up ◽  
Clinical Records

Object Complex aneurysms of the basilar artery (BA) apex can be successfully treated using surgical occlusion of the proximal BA. Since the introduction of the Guglielmi detachable coil in 1991, the focus on treating BA aneurysms has been on using endovascular techniques. Outcomes with endovascular techniques have been less than optimal for large and complex aneurysms. The authors therefore report on their current 22-year experience with surgical BA occlusion for complex BA aneurysms and long-term outcome. Methods Fifteen patients underwent surgical BA occlusion at Columbia University Medical Center for complex basilar apex aneurysms between 1987 and 2009. The clinical records of each patient were reviewed for details of presentation, hospital course, operative intervention, and outcome. Results Postoperatively, all patient encounters were recorded at discharge, at the 1-month and 1-year follow-up evaluations, and at long-term outcome. Twelve (80%) of 15 patients experienced no new postoperative neurological deficits. Three patients presenting with severe neurological impairment (modified Rankin Scale [mRS] score > 3) made excellent recoveries (mRS Scores 1–2) at long-term follow-up. One patient died, 1 suffered a stroke during the postoperative angiogram which resulted in hemiparesis, and 1 suffered internuclear ophthalmoplegia which resolved by the 1-month follow-up. Long-term follow-up occurred at an average of 3 ± 4.5 years, ranging from 2 months (for a recently treated patient) to 18 years. The average mRS score at long-term follow-up was 1 ± 1.5. No patient experienced postoperative hemorrhage, rebleeding, or delayed neurological deterioration. Conclusions Surgical occlusion of the BA is an effective treatment option offering a high rate of angiographic cure in a single procedure for patients with complex BA aneurysms. The ability to surgically perform point occlusion of the BA without impairment of brainstem perforators, while maintaining collateral blood flow to the posterior circulation branch vessels, may provide an advantage compared with endovascular treatments.

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