scholarly journals First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment

2017 ◽  
Vol 8 (5) ◽  
pp. 716-719 ◽  
Author(s):  
Sorin Ioacara ◽  
Sarah Flanagan ◽  
Elke Fröhlich-Reiterer ◽  
Robin Goland ◽  
Simona Fica
Keyword(s):  
Neonatal Diabetes ◽  
First Case ◽  
Sulphonylurea Treatment

Neonatal Diabetes – From Gene Discovery yo Clinical Practice Changes

2013 ◽  
Vol 20 (3) ◽  
pp. 343-352
Author(s):  
Cristian Guja ◽  
Loreta Guja ◽  
Constantin Ionescu-Tîrgovişte
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Single Gene ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Special Focus ◽  
Sulphonylurea Treatment ◽  
The Common

Abstract Diabetes mellitus is one of the most common chronic diseases but also one of the most heterogeneous. Apart the common phenotypes of type 1 and type 2 diabetes, around 1-2% of all cases arise from a single gene mutation and are known as monogenic diabetes. Diabetes diagnosed within the first 6 months of life is known as neonatal diabetes and has been extensively studied during the last two decades. Unraveling the genetic cause and molecular mechanism of this rare diabetes phenotype led to a dramatic change in the treatment of these children who often can be switched from insulin to sulphonylurea treatment. The aim of this paper is to review the known genetic causes of neonatal diabetes and to highlight the most recent aspects of the disease caused by mutations in the KATP and insulin genes, with a special focus on the individualized treatment of these cases

scholarly journals Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
N. Fargas-Berríos ◽  
L. García-Fragoso ◽  
I. García-García ◽  
M. Valcárcel
Keyword(s):  
Diabetes Mellitus ◽  
Puerto Rico ◽  
Neonatal Intensive Care ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Differentially Methylated Region ◽  
Transient Neonatal Diabetes Mellitus ◽  
First Case ◽  
Transient Neonatal Diabetes ◽  
Neonatal Hyperglycemia

Neonatal hyperglycemia is a metabolic disorder found in the neonatal intensive care units. Neonatal diabetes mellitus (NDM) is a very uncommon cause of hyperglycemia in the newborn, occurring in 1 in every 400,000 births. There are two subtypes of neonatal diabetes mellitus: permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). We describe a term, small for gestational age, female neonate with transient neonatal diabetes mellitus who presented with poor feeding tolerance and vomiting associated with hyperglycemia (385 mg/dL), glycosuria, and metabolic acidosis within the first 12 hours of life. The neonate was treated with intravenous insulin, obtaining a slight control of hyperglycemia. An adequate glycemia was achieved at 5 weeks of life. The molecular studies showed complete loss of maternal methylation at the TND differentially methylated region on chromosome 6q24. The etiology of this neonate’s hyperglycemia was a hypomethylation of the maternal TND locus. A rare cause of neonatal diabetes mellitus must be considered if a neonate presents refractory hyperglycemia. To our knowledge, this is the first case reported in Puerto Rico of transient neonatal mellitus due to the uncommon mechanism of maternal hypomethylation of the TND locus. Its prevalence in Puerto Rico is unknown.

scholarly journals Identification of First Case of Neonatal Diabetes in Singapore and Successful Conversion from Insulin to Sulphonylurea

2010 ◽  
Vol 19 (2) ◽  
pp. 107-111
Author(s):  
Rashida Vasanwala ◽  
Fabian Yap ◽  
Song Hai Lim ◽  
Pei Kwee Lim ◽  
Soo Ting Lim ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
First Case

scholarly journals Novel GLIS3 mutations demonstrate an extended multisystem phenotype

2011 ◽  
Vol 164 (3) ◽  
pp. 437-443 ◽  
Author(s):  
P Dimitri ◽  
J T Warner ◽  
J A L Minton ◽  
A M Patch ◽  
S Ellard ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Dosage ◽  
Molecular Genetic ◽  
Sensorineural Deafness ◽  
Neonatal Diabetes ◽  
Congenital Glaucoma ◽  
Facial Dysmorphism ◽  
Snp Analysis ◽  
Exocrine Insufficiency ◽  
First Case

IntroductionMutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with six affected cases from three families reported to date. Additional features, described previously, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and facial dysmorphism.SubjectsWe report two new cases from unrelated families with distinct novel homozygous partial GLIS3 deletions. Both patients presented with neonatal diabetes mellitus, severe resistant hypothyroidism in the presence of elevated thyroglobulin and normal thyroid anatomy, degenerative liver disease, cystic renal dysplasia, recurrent infections and facial dysmorphism. These novel mutations have also resulted in osteopenia, bilateral sensorineural deafness and pancreatic exocrine insufficiency, features that have not previously been associated with GLIS3 mutations. Gene dosage analysis showed that the parents were carriers of a deletion encompassing exons 1–2 (case 1) or exons 1–4 (case 2) of the 11 exon gene. Genome-wide SNP analysis did not reveal a common ancestral GLIS3 haplotype in patient 2.ConclusionsOur results confirm partial gene deletions as the most common type of GLIS3 mutations, accounting for four of five families identified to date. We propose that mutations in GLIS3 lead to a wider clinical phenotype than previously recognised. We also report the first case of a recessive GLIS3 mutation causing neonatal diabetes and congenital hypothyroidism in a child from a non-consanguineous pedigree, highlighting the importance of molecular genetic testing in any patient with this phenotype.

Hemoglobin crystals of the red blood cells in the human renal cortex: electron microscopic observations of the renal lithiasis

1978 ◽  
Vol 36 (2) ◽  
pp. 480-481
Author(s):  
Kosuke Ueda ◽  
Hiroto Washida ◽  
Nakazo Watari
Keyword(s):  
Red Blood Cells ◽  
Blood Cells ◽  
Renal Cortex ◽  
Uranyl Acetate ◽  
Osmic Acid ◽  
Renal Lithiasis ◽  
Electron Microscopic ◽  
Hemoglobin C ◽  
First Case ◽  
Ultrathin Sections

IntroductionHemoglobin crystals in the red blood cells were electronmicroscopically reported by Fawcett in the cat myocardium. In the human, Lessin revealed crystal-containing cells in the periphral blood of hemoglobin C disease patients. We found the hemoglobin crystals and its agglutination in the erythrocytes in the renal cortex of the human renal lithiasis, and these patients had no hematological abnormalities or other diseases out of the renal lithiasis. Hemoglobin crystals in the human erythrocytes were confirmed to be the first case in the kidney.Material and MethodsTen cases of the human renal biopsies were performed on the operations of the seven pyelolithotomies and three ureterolithotomies. The each specimens were primarily fixed in cacodylate buffered 3. 0% glutaraldehyde and post fixed in osmic acid, dehydrated in graded concentrations of ethanol, and then embedded in Epon 812. Ultrathin sections, cut on LKB microtome, were doubly stained with uranyl acetate and lead citrate.

Electron-diffraction studies in synthetic polymer materials

1983 ◽  
Vol 41 ◽  
pp. 362-365
Author(s):  
D.T. Grubb
Keyword(s):  
Electron Diffraction ◽  
Synthetic Polymer ◽  
Polymer Materials ◽  
Crystallographic Structure ◽  
High Dose ◽  
Electron Dose ◽  
Dose Rates ◽  
First Case ◽  
Diffraction Patterns ◽  
The Many

Diffraction studies in polymeric and other beam sensitive materials may bring to mind the many experiments where diffracted intensity has been used as a measure of the electron dose required to destroy fine structure in the TEM. But this paper is concerned with a range of cases where the diffraction pattern itself contains the important information.In the first case, electron diffraction from paraffins, degraded polyethylene and polyethylene single crystals, all the samples are highly ordered, and their crystallographic structure is well known. The diffraction patterns fade on irradiation and may also change considerably in a-spacing, increasing the unit cell volume on irradiation. The effect is large and continuous far C94H190 paraffin and for PE, while for shorter chains to C 28H58 the change is less, levelling off at high dose, Fig.l. It is also found that the change in a-spacing increases at higher dose rates and at higher irradiation temperatures.

Small-Angle Electron Scattering (SAES) of Polymers

1985 ◽  
Vol 43 ◽  
pp. 78-79
Author(s):  
Ralph Oralor ◽  
Pamela Lloyd ◽  
Satish Kumar ◽  
W. W. Adams
Keyword(s):  
Electron Scattering ◽  
Small Angle ◽  
Angular Resolution ◽  
Structural Features ◽  
Objective Lens ◽  
High Angular Resolution ◽  
Push Button ◽  
First Case ◽  
Diffraction Mode ◽  
Very High

Small angle electron scattering (SAES) has been used to study structural features of up to several thousand angstroms in polymers, as well as in metals. SAES may be done either in (a) long camera mode by switching off the objective lens current or in (b) selected area diffraction mode. In the first case very high camera lengths (up to 7Ø meters on JEOL 1Ø ØCX) and high angular resolution can be obtained, while in the second case smaller camera lengths (approximately up to 3.6 meters on JEOL 1Ø ØCX) and lower angular resolution is obtainable. We conducted our SAES studies on JEOL 1ØØCX which can be switched to either mode with a push button as a standard feature.

Impairment Tutorial: Functionally Limiting Upper Extremity Pain: Controversies in Impairment Rating

2003 ◽  
Vol 8 (5) ◽  
pp. 4-12
Author(s):  
Lorne Direnfeld ◽  
James Talmage ◽  
Christopher Brigham
Keyword(s):  
Upper Extremity ◽  
Radicular Pain ◽  
Illness Behavior ◽  
Orthopedic Surgeon ◽  
First Case ◽  
Clinical Presentations ◽  
Whole Person ◽  
Physical Examinations ◽  
Upper Extremity Impairment ◽  
The Individual

Abstract This article was prompted by the submission of two challenging cases that exemplify the decision processes involved in using the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides). In both cases, the physical examinations were normal with no evidence of illness behavior, but, based on their histories and clinical presentations, the patients reported credible symptoms attributable to specific significant injuries. The dilemma for evaluators was whether to adhere to the AMA Guides, as written, or to attempt to rate impairment in these rare cases. In the first case, the evaluating neurologist used alternative approaches to define impairment based on the presence of thoracic outlet syndrome and upper extremity pain, as if there were a nerve injury. An orthopedic surgeon who evaluated the case did not base impairment on pain and used the upper extremity chapters in the AMA Guides. The impairment ratings determined using either the nervous system or upper extremity chapters of the AMA Guides resulted in almost the same rating (9% vs 8% upper extremity impairment), and either value converted to 5% whole person permanent impairment. In the second case, the neurologist evaluated the individual for neuropathic pain (9% WPI), and the orthopedic surgeon rated the patient as Diagnosis-related estimates Cervical Category II for nonverifiable radicular pain (5% to 8% WPI).

Sign in / Sign up

Export Citation Format

Share Document