The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan

2022 ◽  
Author(s):  
Masahiro Ando ◽  
Yujiro Higuchi ◽  
Mika Takeuchi ◽  
Akihiro Hashiguchi ◽  
Hiroshi Takashima
Keyword(s):  
Pancreatic Disease ◽  
First Case

scholarly journals P.134 Infantile Onset Multisystem Neurologic, Endocrine and Pancreatic Disease: case series and review

2018 ◽  
Vol 45 (s2) ◽  
pp. S51-S51
Author(s):  
C Le ◽  
AN Prasad ◽  
D Debicki ◽  
A Andrade ◽  
AC Rupar ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Severe Disease ◽  
Case Series ◽  
Pancreatic Disease ◽  
Missense Mutations ◽  
First Case ◽  
Mutation Database ◽  
Disease Case ◽  
Ncbi Dbsnp ◽  
Clinical Phenotyping

Background: We report three brothers born to consanguineous parents of Syrian descent with a novel homozygous c.324G>A (p.W108*) mutation in PTRH2 that encodes mitochondrial peptidyl-tRNA hydrolase 2. Mutations in PTRH2 have recently been identified in the autosomal recessive condition, Infantile Onset Multisystem Neurologic, Endocrine and Pancreatic Disease (IMNEPD). To our knowledge, this is the first case of IMNEPD described in a Canadian centre. Methods: Clinical phenotyping enabled a targeted approach in which all exons of PTRH2 were sequenced. We identified a novel mutation and compared our patients with those recently described. Results: We identified a homozygous nonsense mutation in PTRH2, c.324G>A (p.W108*). This G to A mutation results in a premature stop at codon 108 that produces a truncated protein, removing most of the amino acids at the enzymatic active site. This mutation is not listed in the human Gene Mutation Database Cardiff, NCBI dbSNP, 1000 Genomes, Exome Variant Server or ClinVar and is a rare variant listed in gnomAD. Conclusions: In IMNEPD, nonsense mutations in PTRH2 appear to cause severe disease with postnatal microcephaly, neurodevelopmental regression, and ataxia with additional features of seizures, peripheral neuropathy, and pancreatic dysfunction, whereas missense mutations may produce a milder phenotype. The spectrum exhibited by our patients suggests variable expressivity with PTRH2 mutations.

scholarly journals Pancreatitis autoinmune. Serie de casos y actualización bibliográfica

2021 ◽  
Vol 51 (3) ◽  
Author(s):  
Analia Verónica Pasqua ◽  
Juan Carlos Spina ◽  
Eduardo Mullen
Keyword(s):  
Autoimmune Pancreatitis ◽  
Case Reports ◽  
Pancreatic Disease ◽  
Histological Evaluation ◽  
First Case ◽  
Type 1 Autoimmune Pancreatitis ◽  
Pancreatic Disorders ◽  
The 1960S

The concept and diagnostic criteria for autoimmune pancreatitis have evolved since the first case reports published in the 1960s. The advances in knowledge during the past two decades have resulted in the recognition of several pancreatic conditions that show, on histological evaluation, variable combinations of inflammation and fibrosis. In fact, autoimmune pancreatitis comprises two distinct diseases: type 1 and type 2. Type 2 autoimmune pancreatitis is a particular pancreatic disease about which there is limited data; it differs from the ‘classic’ IgG4-related type 1 autoimmune pancreatitis in terms of epidemiology, pathological characteristics and natural evolution. There are patients with complex pancreatic conditions where an autoimmune component and good response to steroids are demonstrated, but they do not meet the suggested criteria for the diagnosis of type 1 or type 2 autoimmune pancreatitis. Although the term steroid-responsive pancreatitis may be interpreted as a synonym to type 1 and 2 autoimmune pancreatitis, these are not the only pancreatic conditions that improve with this type of treatment. Here, we present three clinical cases and a literature review related to the diagnosis and treatment of autoimmune pancreatitis and other less frequent pancreatic disorders that present a good response to steroid therapy.

An Unusual Case of Cutaneous Pancreatic Fat Necrosis

2002 ◽  
Vol 6 (1) ◽  
pp. 16-18
Author(s):  
Smita Agarwal ◽  
Jennell E. Nelson ◽  
Seth R. Stevens ◽  
Anita C. Gilliam
Keyword(s):  
Unusual Case ◽  
Clinical Presentation ◽  
Pancreatic Disease ◽  
Fat Necrosis ◽  
Medline Search ◽  
Subcutaneous Nodules ◽  
First Case ◽  
Pancreatic Fat ◽  
Diffuse Erythema ◽  
Pathognomonic Sign

Background: Cutaneous pancreatic fat necrosis is a pathognomonic sign for pancreatic disease and usually presents as subcutaneous nodules in the pretibial region. Objective: A case of cutaneous pancreatic fat necrosis is presented in which the clinical presentation of diffuse erythema was unusual. This disease is discussed and its possible etiologies are reviewed. Methods: A MEDLINE search for cases of cutaneous pancreatic fat necrosis presenting as diffuse erythema without nodules was conducted. Results: Diffuse erythema is an unusual presentation of cutaneous pancreatic fat necrosis. Conclusion: This may be the first case of cutaneous pancreatic fat necrosis presenting as diffuse erythema.

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).

Serum γ-Glutamyl Transpeptidase Activity In Hepatobiliary Pancreatic Disease

1963 ◽  
Vol 45 (1) ◽  
pp. 43-48 ◽  
Author(s):  
Alexander M. Rutenburg ◽  
Julius A. Goldbarg ◽  
Esteban P. Pineda
Keyword(s):  
Pancreatic Disease ◽  
Glutamyl Transpeptidase
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