Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

Objective ABCC8 mutations cause neonatal diabetes that can be transient (TNDM) or less commonly permanent (PNDM); ~90% individuals can be treated with oral sulfonylureas instead of insulin. Previous studies suggested that people with ABCC8-PNDM require lower sulfonylurea doses and have milder neurological features than those with KCNJ11-PNDM. However, these studies were short-term and included combinations of permanent and transient forms of ABCC8-NDM. We aimed to assess the long-term glycemic and neurological outcomes in sulfonylurea-treated ABCC8-PNDM. Research Design and Methods We studied all 24 individuals with ABCC8-PNDM diagnosed in the UK, Italy, France or USA known to transfer from insulin to sulfonylureas before May 2010. Data on glycemic control, sulfonylurea dose, adverse effects including hypoglycemia, and neurological features were analysed using non-parametric statistical methods. Results Long-term data were obtained for 21/24 individuals (median follow-up 10.0 (4.1-13.2) years). 18/21 remained on sulfonylureas without insulin at most recent follow-up. Glycemic control improved on sulfonylureas (pre-sulfonylurea vs 1-year post-transfer HbA1c 7.2% vs 5.7%, p=0.0004) and remained excellent long-term (1-year vs. 10-year HbA1c 5.7% vs. 6.5%, p=0.04), n=16. Relatively high doses were used (1-year vs 10-year dose 0.37 vs 0.25mg/kg/day glyburide, p=0.50), without any severe hypoglycemia. Neurological features were reported in 13/21 individuals: these improved following sulfonylurea transfer in 7/13. The commonest features were learning difficulties (52%), developmental delay (48%), and ADHD (38%). Conclusions Sulfonylurea treatment of ABCC8-PNDM results in excellent long-term glycemic control. Overt neurological features frequently occur and may improve with sulfonylureas, supporting early, rapid genetic testing to guide appropriate treatment and neurodevelopmental assessment.

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Long-term follow-up of a child with Wolcott-Rallison syndrome

BMJ Case Reports ◽

10.1136/bcr-2021-242376 ◽

2021 ◽

Vol 14 (5) ◽

pp. e242376

Author(s):

Nikhil Shah ◽

Madhura Bharat Karguppikar ◽

Vaman Khadilkar ◽

Anuradha Khadilkar

Keyword(s):

Diabetes Mellitus ◽

South Asia ◽

Poor Prognosis ◽

Neonatal Diabetes ◽

Permanent Neonatal Diabetes ◽

Common Cause ◽

Long Term Follow Up ◽

Basal Bolus

Wolcott-Rallison syndrome (WRS), the most common cause of permanent neonatal diabetes mellitus (DM) in consanguineous families, has a poor prognosis, with a mean survival of 5.8 years. Majority of children with WRS succumb to the disease in the first decade of life. We present the long-term follow-up of an 8-year-2-month-old girl with genetically proven WRS who was born to a non-consanguineous parentage. She is on basal bolus regimen of insulin therapy for DM. In addition, she was noted to have features of skeletal dysplasia at 3 years and 3 months of age, which has led to her short stature. Surprisingly, she has had no episodes of hepatitis or liver dysfunction so far, which is frequently seen in children with WRS. To the best of our knowledge, she is the oldest surviving patient with WRS reported in India and South Asia.

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Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes

10.2337/figshare.13053074.v1 ◽

2020 ◽

Author(s):

Pamela Bowman ◽

Frances Mathews ◽

Fabrizio Barbetti ◽

Maggie H. Shepherd ◽

Janine Sanchez ◽

...

Keyword(s):

Glycemic Control ◽

Severe Hypoglycemia ◽

Neonatal Diabetes ◽

Neurological Outcomes ◽

Long Term Follow Up ◽

Neurological Features ◽

High Doses ◽

The Uk

Objective ABCC8 mutations cause neonatal diabetes that can be transient (TNDM) or less commonly permanent (PNDM); ~90% individuals can be treated with oral sulfonylureas instead of insulin. Previous studies suggested that people with ABCC8-PNDM require lower sulfonylurea doses and have milder neurological features than those with KCNJ11-PNDM. However, these studies were short-term and included combinations of permanent and transient forms of ABCC8-NDM. We aimed to assess the long-term glycemic and neurological outcomes in sulfonylurea-treated ABCC8-PNDM. Research Design and Methods We studied all 24 individuals with ABCC8-PNDM diagnosed in the UK, Italy, France or USA known to transfer from insulin to sulfonylureas before May 2010. Data on glycemic control, sulfonylurea dose, adverse effects including hypoglycemia, and neurological features were analysed using non-parametric statistical methods. Results Long-term data were obtained for 21/24 individuals (median follow-up 10.0 (4.1-13.2) years). 18/21 remained on sulfonylureas without insulin at most recent follow-up. Glycemic control improved on sulfonylureas (pre-sulfonylurea vs 1-year post-transfer HbA1c 7.2% vs 5.7%, p=0.0004) and remained excellent long-term (1-year vs. 10-year HbA1c 5.7% vs. 6.5%, p=0.04), n=16. Relatively high doses were used (1-year vs 10-year dose 0.37 vs 0.25mg/kg/day glyburide, p=0.50), without any severe hypoglycemia. Neurological features were reported in 13/21 individuals: these improved following sulfonylurea transfer in 7/13. The commonest features were learning difficulties (52%), developmental delay (48%), and ADHD (38%). Conclusions Sulfonylurea treatment of ABCC8-PNDM results in excellent long-term glycemic control. Overt neurological features frequently occur and may improve with sulfonylureas, supporting early, rapid genetic testing to guide appropriate treatment and neurodevelopmental assessment.

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Endoscopic thoracic microdiscectomy

Journal of Neurosurgery Spine ◽

10.3171/spi.2005.3.6.0459 ◽

2005 ◽

Vol 3 (6) ◽

pp. 459-464 ◽

Cited By ~ 36

Author(s):

Rod J. Oskouian ◽

J. Patrick Johnson

Keyword(s):

Hospital Length ◽

Outcome Data ◽

Hospital Length Of Stay ◽

Content Type ◽

Neurological Outcomes ◽

Long Term Follow Up ◽

Thoracic Disc ◽

Fine Print

Object. The purpose of this clinical study was to evaluate prospectively surgical and neurological outcomes after endoscopic thoracic disc surgery. Methods. The authors assessed the following quantifiable outcome data in 46 patients: operative time, blood loss, duration of chest tube insertion, narcotic use, hospital length of stay (LOS), and long-term follow-up neurological function and pain-related symptoms. In patients who presented with myelopathy there was a postoperative improvement of two Frankel grades. Pain related to radiculopathy was improved by 75% and in one patient it worsened postoperatively. The authors also present operative data, surgical outcomes, and complications. Conclusions. Thoracoscopic discectomy can be used to achieve acceptable results. It has several distinct advantages such as reduced postoperative pain, morbidity, and LOS compared with traditional open procedures.

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The outcome of tethered cord release in secondary and multiple repeat tethered cord syndrome

Journal of Neurosurgery Pediatrics ◽

10.3171/2009.2.peds08339 ◽

2009 ◽

Vol 4 (1) ◽

pp. 28-36 ◽

Cited By ~ 40

Author(s):

Wajd N. Al-Holou ◽

Karin M. Muraszko ◽

Hugh J. Garton ◽

Steven R. Buchman ◽

Cormac O. Maher

Keyword(s):

Spinal Cord ◽

Primary Repair ◽

Tethered Cord ◽

Tethered Cord Syndrome ◽

Neurological Outcomes ◽

Younger Age ◽

Long Term Follow Up ◽

Multiple Repeat

Object After primary repair of a myelomeningocele or a lipomyelomeningocele, patients can present with symptoms of secondary tethered cord syndrome (TCS). After surgical untethering, a small percentage of these patients can present with multiple repeat TCS. In patients presenting with secondary or multiple repeat TCS, the role as well the expected outcomes of surgical untethering are not well defined. Methods Eighty-four patients who underwent spinal cord untethering after at least 1 primary repair were retrospectively evaluated using scaled and subjective outcome measures at short-term and long-term follow-up visits. Outcomes were analyzed for predictive measures using multivariate logistic regression. Results Surgical untethering was performed in 66 patients with myelomeningoceles and 18 patients with lipomyelomeningoceles. Fourteen patients underwent multiple repeat spinal cord untethering. Patients were followed up for an average of 6.2 years. Most patients had stability of function postoperatively. Motor function and weakness improved in 7 and 16% of patients at 6 months, respectively, and 6 and 19% of patients at long-term follow-up evaluation, respectively. Of the patients who presented with back pain, 75% had improvement in symptoms at 6 months postoperatively. Younger age at untethering was significantly associated with worse long-term neurological outcomes. The number of previous untethering procedures, original diagnosis, sex, anatomical level, and degree of untethering had no effect on surgical outcomes. Conclusions Patients presenting with secondary or multiple repeat TCS may benefit from surgical untethering.

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Long term follow-up of bifurcation aneurysms treated with braided stent assisted coiling and complex T- and Y- stent constructs

Journal of NeuroInterventional Surgery ◽

10.1136/neurintsurg-2017-013399 ◽

2017 ◽

Vol 10 (6) ◽

pp. 560-565 ◽

Cited By ~ 8

Author(s):

Nicholas K Cheung ◽

Albert HY Chiu ◽

Andrew Cheung ◽

Jason D Wenderoth

Keyword(s):

Clinical Assessment ◽

Thromboembolic Events ◽

Modified Rankin Scale ◽

Radiological Assessment ◽

Neurological Outcomes ◽

Long Term Follow Up ◽

Aneurysm Occlusion ◽

Braided Stent

BackgroundStent assisted coil embolization (SACE) of bifurcation aneurysms is challenging. Heterogeneous results have been achieved to date, but largely for laser cut stents. While braided stents offer multiple technical advantages, their long term efficacy has yet to be validated.ObjectiveTo report the first long term 18 month results for the durability of bifurcation aneurysms treated with braided stents.Materials and methodsOver a 4 year period, 59 consecutive patients with 60 bifurcation aneurysms underwent elective braided SACE across three Australian neurovascular centers. 17 of these aneurysms underwent T- or Y-shaped stent constructs. All patients had immediate, 6 month and 18 month clinical and radiological follow-up. Radiological assessment was made on modified Raymond–Roy occlusion scores while clinical assessment was based on the modified Rankin Scale. Subgroup analysis of 17 aneurysms treated with multi-stent constructs was conducted.Results6 month follow-up data were available for 59 aneurysms and 18 month follow-up data for 58 aneurysms. Satisfactory aneurysm occlusion was achieved in 97% at inception and at 6 months, and 98% at 18 months. Good neurological outcomes were achieved in 95% at 18 months. Similar satisfactory results were achieved with the multi-stent construct cohort. Intraprocedural thromboembolic events were recorded in 5% and delayed events in 2%. Technical complications were found in 5%. All complication rate was 13%.ConclusionBraided SACE was safe, efficacious, and durable at the long term 18 month follow-up, including for multi-stent constructs. Preliminary results indicate favorable clinical and radiological outcomes compared with laser cut stents.

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Amiodarone for in-hospital cardiac resuscitation: A cohort study with long-term follow up and neurological outcomes.

Clinical Pharmacology & Therapeutics ◽

10.1016/s0009-9236(03)90365-1 ◽

2003 ◽

Vol 73 (2) ◽

pp. P2-P2

Author(s):

V. Wee ◽

K.B. Zarnke ◽

J. Martin ◽

R. Moor ◽

T. Pollak

Keyword(s):

Cohort Study ◽

Neurological Outcomes ◽

Cardiac Resuscitation ◽

Long Term Follow Up

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Endoscopic thoracic microdiscectomy

Neurosurgical FOCUS ◽

10.3171/foc.2005.18.3.12 ◽

2005 ◽

Vol 18 (3) ◽

pp. 1-8 ◽

Cited By ~ 5

Author(s):

Rod J. Oskouian ◽

J. Patrick Johnson

Keyword(s):

Operating Time ◽

Length Of Hospital Stay ◽

Outcome Data ◽

Narcotic Drug ◽

Neurological Outcomes ◽

Long Term Follow Up ◽

Thoracic Disc ◽

Frankel Grade

Object The purpose of this investigation was to evaluate surgical and neurological outcomes in thoracic disc surgery in a prospective fashion. Methods Quantifiable outcome data such as operating time, blood loss, duration of chest tube drainage, narcotic drug use, length of hospital stay (LOS), and long-term follow up of neurological function and pain-related symptoms were collected prospectively. In patients with myelopathy there was an improvement of two Frankel grades in the thoracoscopic discectomy group and one Frankel grade in the patients treated with thoracotomy; however, patients in the thoracotomy group were significantly worse preoperatively. None of the patients experienced worsened pain, and pain related to radiculopathy was improved by 75% in the thoracoscopic group. Conclusions Thoracoscopic discectomy yields acceptable surgical results and has several distinct advantages, with reduced postoperative pain, morbidity, and LOS.

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