scholarly journals The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration

2018 ◽  
Vol 104 (1) ◽  
pp. 118-126 ◽  
Author(s):  
Irene C Huffnagel ◽  
Fiza K Laheji ◽  
Razina Aziz-Bose ◽  
Nicholas A Tritos ◽  
Rose Marino ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Natural History ◽  
Adrenal Insufficiency ◽  
Cerebral Disease ◽  
Spinal Cord Disease ◽  
On Demand ◽  
Age Dependent ◽  
History Of ◽  
Male Patients

Abstract Context Primary adrenal insufficiency is an important clinical manifestation of X-linked adrenoleukodystrophy (ALD). Other manifestations include spinal cord disease and/or inflammatory demyelinating cerebral disease. Implementation of newborn screening requires natural history data to develop follow-up recommendations. Objective To delineate the natural history of adrenal insufficiency in male patients with ALD and to assess associations between the risk for developing adrenal insufficiency, spinal cord disease, or cerebral disease and plasma C26:0/C22:0 and C24:0/C22:0 ratios, which are diagnostic biomarkers for ALD. Design Retrospective review of medical records. Setting Two international tertiary referral centers of expertise for ALD. Patients Male patients with ALD followed at the centers between 2002 and 2016. Main Outcome Measures The primary endpoint was adrenal insufficiency; secondary endpoints were spinal cord and cerebral disease. Results Data on 159 male patients was available. The probability of developing adrenal insufficiency was described with survival analysis. Median time until adrenal insufficiency was 14 years (95% CI, 9.70 to 18.30 years). The cumulative proportion of patients who developed adrenal insufficiency was age-dependent and highest in early childhood [0 to 10 years, 46.8% (SEM 0.041%); 11 to 40 years, 28.6% (SEM, 0.037%); >40 years, 5.6% (SEM, 0.038%)]. No association between clinical manifestations and plasma ratios was detected with Cox model or Spearman correlation. Conclusions Lifetime prevalence of adrenal insufficiency in male patients with ALD is ~80%. Adrenal insufficiency risk is time-dependent and warrants age-dependent follow-up. Besides on-demand testing if symptoms manifest, we suggest a minimum of adrenal testing every 4 to 6 months for patients age ≤10 years, annual testing for those age 11 to 40 years, and solely on-demand testing for those age >40 years.

The Natural History of Conservatively Managed Symptomatic Intramedullary Spinal Cord Cavernomas

Neurosurgery ◽  
2007 ◽  
Vol 60 (5) ◽  
pp. 865-872 ◽  
Author(s):  
Siddharth Kharkar ◽  
John Shuck ◽  
James Conway ◽  
Daniele Rigamonti
Keyword(s):  
Spinal Cord ◽  
Natural History ◽  
Duration Of Symptoms ◽  
Intramedullary Spinal Cord ◽  
Additional Information ◽  
History Of ◽  
The Mean ◽  
Spinal Cavernomas ◽  
Time Of Presentation

Abstract OBJECTIVE The presentation and natural history of untreated, symptomatic intramedullary spinal cavernomas at our institution were analyzed. The objective is to provide additional information regarding the natural history of conservatively managed, symptomatic, intramedullary spinal cord cavernous malformations. METHODS The medical records of patients treated in our institution between 1989 and 2002 were reviewed to identify those with intramedullary cavernomas. The medical, radiological, surgical, and pathological records from these patients were retrospectively reviewed and analyzed. RESULTS Fourteen patients were included in the study. The mean age at presentation was 42 years. Four lesions (29%) were located in the cervical region and 10 lesions (71%) were present in the thoracolumbar spinal cord. All patients were symptomatic at the time of presentation. In this cohort of 14 patients, 10 patients (71%) were conservatively managed. For these patients, the mean duration of symptoms before presentation was 10 months. The mean duration of follow-up from the time of presentation was 80 months. The median McCormick grade for conservatively treated patients at presentation was II. During this period, none of the conservatively managed patients had an acute intramedullary bleed. In nine patients, the McCormick grade at the last follow-up evaluation was the same as or better than their score at presentation. Four patients (29%) were treated surgically. The mean duration of symptoms before presentation was 33 months. The mean duration of follow-up from the time of presentation was 42 months. In two surgical patients, the McCormick grade at the last follow-up evaluation remained unchanged compared with their score at presentation, whereas the McCormick grade improved in one patient and deteriorated in another patient. CONCLUSION This cohort of conservatively managed patients with symptomatic, intramedullary spinal cord cavernomas was clinically stable throughout the follow-up period. In this series, patients harboring symptomatic spinal cord cavernous malformation did not have significant, permanent neurological decline during the follow-up period when treated with the conservative approach of observation. This data provides additional information for determining the appropriate treatment strategy for patients with intramedullary spinal cavernomas.

scholarly journals Natural History of Isolated Below-Knee Vein Thrombosis in Patients with Spinal Cord Injury

Healthcare ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 861
Author(s):  
Jang-Hyuk Cho ◽  
Dong-Gyu Lee
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Injury ◽  
Deep Vein Thrombosis ◽  
Natural History ◽  
Vein Thrombosis ◽  
Asian Patients ◽  
Cord Injury ◽  
History Of ◽  
Deep Vein

In the general population, serial imaging is recommended over anticoagulant therapy for below-knee deep vein thrombosis (BKDVT). However, no clinical trial in Asian patients with spinal cord injury and BKDVT has been performed. Therefore, we evaluated the natural course of BKDVT in patients with acute spinal cord injury. We retrospectively analyzed inpatients with spinal cord injury with BKDVT between 2016 and 2020. All patients underwent inpatient rehabilitation treatment and duplex ultrasonographic examination of both the lower extremities at follow-up. After screening 172 patients with acute spinal cord injury for deep vein thrombosis using duplex ultrasound, 27 patients with below-the-knee deep vein thrombosis were included in this study. The mean lower-extremity motor score (median, interquartile range) was 66.0, 54.0–74.5. Sixteen patients received a non-vitamin K antagonist oral anticoagulant (NOAC) for anticoagulation. None of the patients had proximal propagation according to the follow-up duplex ultrasonography. BKDVT disappearance was not significantly different between the NOAC treatment and non-treatment groups. Asian patients with spinal cord injury have a low incidence of venous thromboembolism and favorable natural history of BKDVT. We recommend serial imaging over anticoagulant therapy for BKDVT in these patients.

scholarly journals Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients

2020 ◽  
Vol 4 (5) ◽  
pp. 437-440
Author(s):  
Daniel J. Oh ◽  
Veeral Sheth ◽  
Gerald A. Fishman ◽  
Michael A. Grassi
Keyword(s):  
Natural History ◽  
Carbonic Anhydrase ◽  
Macular Dystrophy ◽  
Long Term Follow Up ◽  
History Of ◽  
Male Patients ◽  
Unrelated Male ◽  
Good Vision

Purpose: We demonstrate that Crumbs homologue 1 ( CRB1) maculopathy should be considered in the differential of petaloid pigmentary changes in the macula of young children with good vision who may be asymptomatic. Methods: We report on 2 unrelated male patients presenting at a young age with decreased vision from a macular dystrophy due to biallelic CRB1 mutations. Results: In addition to a previously described pathogenic variant, Ile167Gly169del, 2 new pathogenic missense variants in CRB1, Thr745Met and Cys948Tyr, are reported here. Conclusions: Although CRB1 mutations have been more commonly described in retinitis pigmentosa and Leber congenital amaurosis, we demonstrate that mutations in CRB1 can cause a maculopathy in which initial features can resemble juvenile X-linked retinoschisis. We show that the accompanying macular edema is responsive to carbonic anhydrase inhibitors. With long-term follow-up for each case, we illustrate the natural history of CRB1 maculopathy based on clinical examination and diagnostic imaging.

Natural history of helicobacter pylori infection from infancy to adulthood: A 21-year follow-up cohort study

2001 ◽  
Vol 120 (5) ◽  
pp. A128-A128 ◽  
Author(s):  
H MALATY ◽  
D GRAHAM ◽  
A ELKASABANY ◽  
S REDDY ◽  
S SRINIVASAN ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Cohort Study ◽  
Natural History ◽  
Helicobacter Pylori Infection ◽  
History Of

The natural history of pituitary apoplexy: long term follow-up study

2019 ◽  
Author(s):  
Ayesha Shaikh ◽  
Natasha Shrikrishnapalasuriyar ◽  
Giselle Sharaf ◽  
David Price ◽  
Maneesh Udiawar ◽  
...  
Keyword(s):  
Natural History ◽  
Pituitary Apoplexy ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
History Of

The natural history of benign thyroid nodules: 10 years follow-up

2020 ◽  
Author(s):  
Valeria Ramundo ◽  
Giorgio Grani ◽  
Rocco Bruno ◽  
Giuseppe Costante ◽  
Domenico Meringolo ◽  
...  
Keyword(s):  
Natural History ◽  
Thyroid Nodules ◽  
History Of ◽  
Benign Thyroid Nodules ◽  
Benign Thyroid

Unruptured intracranial aneurysms in children: 18 years’ experience in a tertiary care pediatric institution

2019 ◽  
Vol 24 (2) ◽  
pp. 184-189 ◽  
Author(s):  
Daniel-Alexandre Bisson ◽  
Peter Dirks ◽  
Afsaneh Amirabadi ◽  
Manohar M. Shroff ◽  
Timo Krings ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Natural History ◽  
Internal Carotid Artery ◽  
Intracranial Aneurysms ◽  
Internal Carotid ◽  
Tertiary Care ◽  
Unruptured Intracranial Aneurysms ◽  
History Of ◽  
Mean Size

OBJECTIVEThere are little data in the literature on the characteristics and natural history of unruptured intracranial aneurysms in children. The authors analyzed their experience with unruptured intracranial aneurysms in the pediatric population at their tertiary care pediatric institution over the last 18 years. The first objective was to assess the imaging characteristics and natural history of these aneurysms in order to help guide management strategies in the future. A second objective was to evaluate the frequency of an underlying condition when an incidental intracranial aneurysm was detected in a child.METHODSThe authors conducted a Research Ethics Board–approved retrospective review of incidental intracranial aneurysms in patients younger than 18 years of age who had been treated at their institution in the period from 1998 to 2016. Clinical (age, sex, syndrome) and radiological (aneurysm location, type, size, thrombus, mass effect) data were recorded. Follow-up imaging was assessed for temporal changes.RESULTSSixty intracranial aneurysms occurred in 51 patients (36 males, 15 females) with a mean age of 10.5 ± 0.5 years (range 9 months–17 years). Forty-five patients (88.2%) had a single aneurysm, while 2 and 3 aneurysms were found in 3 patients each (5.8%). Syndromic association was found in 22 patients (43.1%), most frequently sickle cell disease (10/22 [45.5%]). Aneurysms were saccular in 43 cases (71.7%; mean size 5.0 ± 5.7 mm) and fusiform in the remaining 17 (28.3%; mean size 6.5 ± 2.7 mm). Thirty-one aneurysms (51.7%) arose from the internal carotid artery (right/left 1.4), most commonly in the cavernous segment (10/31 [32.3%]). Mean size change over the entire follow-up of 109 patient-years was a decrease of 0.6 ± 4.2 mm (range −30.0 to +4.0 mm, rate −0.12 ± 9.9 mm/yr). Interval growth (2.0 ± 1.0 mm) was seen in 8 aneurysms (13.3%; 4 saccular, 4 fusiform). An interval decrease in size (8.3 ± 10.7 mm) was seen in 6 aneurysms (10%). There was an inverse relationship between aneurysm size and growth rate (r = −0.82, p < 0.00001). One aneurysm was treated endovascularly with internal carotid artery sacrifice.CONCLUSIONSUnruptured pediatric intracranial aneurysms are most frequently single but can occur in multiples in a syndromic setting. None of the cases from the study period showed clinical or imaging signs of rupture. Growth over time, although unusual and slow, can occur in a proportion of these patients, who should be identified for short-term imaging surveillance.

scholarly journals The spontaneous resolution of a vortex vein varix: case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sara L Weidmayer ◽  
Hakan Demirci
Keyword(s):  
Case Report ◽  
Natural History ◽  
Extended Period ◽  
Spontaneous Resolution ◽  
Case Presentation ◽  
Clinical Resolution ◽  
History Of ◽  
Vortex Vein ◽  
Insight Into

Abstract Background The natural course of a vortex vein varix, though not well understood, has been known to remain stable. However, here we report a novel case of a vortex vein varix that resolved after an extended period of monitoring. Case presentation An asymptomatic 96-year-old Caucasian man was found to have a vortex vein varix. At his previous examination 13 months prior, his fundus was normal. At 13 months of observation, his vortex vein varix become clinically undetectable. Further follow-up confirmed continued absence of the varix. Conclusion This case demonstrates the development then clinical resolution of a vortex vein varix with no clear identifiable factors for its evolution. This case is novel and offers new insight into the natural history of some vortex vein varices, implicating venous congestion as an instigator and venous collateralization as its alleviator, suggesting that vortex vein varices are likely more common than previously reported since some may be temporary and under-identified.

Sign in / Sign up

Export Citation Format

Share Document