scholarly journals A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

2021 ◽  
Author(s):  
Maha Alotaibi ◽  
Deema Aldhubaiban ◽  
Ahmed Alasmari ◽  
Leena Alotaibi
Keyword(s):  
Secretory Pathway ◽  
Frameshift Mutation ◽  
Clinical Presentation ◽  
Phenotypic Variability ◽  
Coiled Coil ◽  
Young Male ◽  
Clinical Findings ◽  
Tall Stature ◽  
Variable Degree ◽  
Vertebral Collapse

AbstractGeroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB—golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin that maps to chromosome 1q24. The encoded protein has a function in the secretory pathway, was identified by terminal kinase-like protein, and thus, it may function in mitosis. Mutations in this gene have been associated with GO. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. Mutations, a homozygous frameshift mutation (c.306dup p.(pro 103 Thrfs*20)). Interestingly, phenotypic variability was observed in this patient with GO features that were more atypical than the cases reported in the literature as he looks tall stature where most of the cases reported were short and arachnodactyly fingers which mimic other syndromes.

scholarly journals A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

2021 ◽  
Vol 9 (2) ◽  
pp. 01-04
Author(s):  
Maha Alotaibi ◽  
Deema Aldhubaiban ◽  
Ahmed Alasmari ◽  
Leena Alotaibi
Keyword(s):  
Secretory Pathway ◽  
Frameshift Mutation ◽  
Clinical Presentation ◽  
Phenotypic Variability ◽  
Coiled Coil ◽  
Young Male ◽  
Clinical Findings ◽  
Tall Stature ◽  
Variable Degree ◽  
Vertebral Collapse

Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB - golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin. That maps to chromosome 1q24. The encoded protein has a function in the secretory pathway. Was identified by-teIrminal kinase-like protein, and thus it may function in mitosis? Mutations in this gene have been associated with geroderma osteodysplastica. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. mutations, a homozygous Frameshift mutation (c.306dup p.(pro 103 Thrfs*20). Interestingly, phenotypic variability was observed in this patient with GO features that were atypical than the cases reported in the literature. As he looks tall stature where the most of cases reported were short and arachnodactyly of fingers which mimic and other syndromes.

scholarly journals Approach to Hemophagocytic Syndromes

Hematology ◽  
2011 ◽  
Vol 2011 (1) ◽  
pp. 178-183 ◽  
Author(s):  
Sheila Weitzman
Keyword(s):  
Secretory Pathway ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Clinical Feature ◽  
Target Cells ◽  
Genetic Condition ◽  
Metabolic Conditions ◽  
Common Problems ◽  
Host Tissues

AbstractHemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition. It may occur as a primary (genetic) condition due to mutations in genes important in the cytolytic secretory pathway that cause perforin and granzymes to induce apoptosis in target cells. Primary HLH is divided into familial HLH (FHLH1-5), in which HLH is the only manifestation of disease, and other genetic causes in which HLH is one of several clinical manifestations. The identical clinical findings may arise secondary to infectious, rheumatologic, malignant, or metabolic conditions. Whether primary or secondary, HLH therapy needs to be instituted promptly to prevent irreversible tissue damage. It is helpful to think of HLH as the severe end of the spectrum of hyperinflammatory disorders when the immune system starts to damage host tissues (immunopathology). Therefore, no single clinical feature alone is diagnostic for HLH, and it is important that the entire clinical presentation be considered in making the diagnosis. This article contains a discussion of the genetic background, clinical presentation, diagnostic dilemmas, and features that are helpful in making the diagnosis of HLH, along with a discussion of common problems in its management.

Computer-Aided Diagnosis in Jaundice: Comparison of Knowledge-based and Probabilistic Approaches

1996 ◽  
Vol 35 (01) ◽  
pp. 41-51 ◽  
Author(s):  
F. Molino ◽  
D. Furia ◽  
F. Bar ◽  
S. Battista ◽  
N. Cappello ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clinical Information ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Clinical Documentation ◽  
Data Set ◽  
Knowledge Based ◽  
Number Of Patients ◽  
Support Tools ◽  
Aided Diagnosis

AbstractThe study reported in this paper is aimed at evaluating the effectiveness of a knowledge-based expert system (ICTERUS) in diagnosing jaundiced patients, compared with a statistical system based on probabilistic concepts (TRIAL). The performances of both systems have been evaluated using the same set of data in the same number of patients. Both systems are spin-off products of the European project Euricterus, an EC-COMACBME Project designed to document the occurrence and diagnostic value of clinical findings in the clinical presentation of jaundice in Europe, and have been developed as decision-making tools for the identification of the cause of jaundice based only on clinical information and routine investigations. Two groups of jaundiced patients were studied, including 500 (retrospective sample) and 100 (prospective sample) subjects, respectively. All patients were independently submitted to both decision-support tools. The input of both systems was the data set agreed within the Euricterus Project. The performances of both systems were evaluated with respect to the reference diagnoses provided by experts on the basis of the full clinical documentation. Results indicate that both systems are clinically reliable, although the diagnostic prediction provided by the knowledge-based approach is slightly better.

scholarly journals Atypical Clinical Presentation of Laryngopharyngeal Reflux: A 5-Year Case Series

2021 ◽  
Vol 10 (11) ◽  
pp. 2439
Author(s):  
Jerome R. Lechien ◽  
Stéphane Hans ◽  
Francois Bobin ◽  
Christian Calvo-Henriquez ◽  
Sven Saussez ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Laryngopharyngeal Reflux ◽  
Case Series ◽  
Clinical Findings ◽  
Aerodigestive Tract ◽  
Common Disease ◽  
Upper Aerodigestive Tract ◽  
Suppurative Otitis Media ◽  
Adequate Treatment ◽  
Atypical Clinical Presentation

Background: Laryngopharyngeal reflux (LPR) is a common disease in otolaryngology characterized by an inflammatory reaction of the mucosa of the upper aerodigestive tract caused by digestive refluxate enzymes. LPR has been identified as the etiological or favoring factor of laryngeal, oral, sinonasal, or otological diseases. In this case series, we reported the atypical clinical presentation of LPR in patients presenting in our clinic with reflux. Methods: A retrospective medical chart review of 351 patients with LPR treated in the European Reflux Clinic in Brussels, Poitiers and Paris was performed. In order to be included, patients had to report an atypical clinical presentation of LPR, consisting of symptoms or findings that are not described in the reflux symptom score and reflux sign assessment. The LPR diagnosis was confirmed with a 24 h hypopharyngeal-esophageal impedance pH study, and patients were treated with a combination of diet, proton pump inhibitors, and alginates. The atypical symptoms or findings had to be resolved from pre- to posttreatment. Results: From 2017 to 2021, 21 patients with atypical LPR were treated in our center. The clinical presentation consisted of recurrent aphthosis or burning mouth (N = 9), recurrent burps and abdominal disorders (N = 2), posterior nasal obstruction (N = 2), recurrent acute suppurative otitis media (N = 2), severe vocal fold dysplasia (N = 2), and recurrent acute rhinopharyngitis (N = 1), tearing (N = 1), aspirations (N = 1), or tracheobronchitis (N = 1). Abnormal upper aerodigestive tract reflux events were identified in all of these patients. Atypical clinical findings resolved and did not recur after an adequate antireflux treatment. Conclusion: LPR may present with various clinical presentations, including mouth, eye, tracheobronchial, nasal, or laryngeal findings, which may all regress with adequate treatment. Future studies are needed to better specify the relationship between LPR and these atypical findings through analyses identifying gastroduodenal enzymes in the inflamed tissue.

scholarly journals Fatal Subacute Hepatic Failure in a Patient with AA-Type Amyloidosis: Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Ibrahim Altraif ◽  
Fayaz A. Handoo ◽  
Khaled O. Alsaad ◽  
Adel Gublan
Keyword(s):  
Alkaline Phosphatase ◽  
Case Report ◽  
Hepatic Failure ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Clinical Findings ◽  
Systemic Amyloidosis ◽  
Hepatic Involvement ◽  
Reactive Amyloidosis ◽  
Hepatic Amyloidosis

Although systemic amyloidosis of amyloid-associated protein (AA) type (secondary or reactive amyloidosis) frequently involves the liver, it rarely causes clinically apparent liver disease. Mild elevation of alkaline phosphatase and hepatomegaly are the most common biochemical and clinical findings, respectively. We report a case of systemic amyloidosis of AA type, which clinically presented as subacute hepatic failure and resulted in a fatal clinical course in a 69-year-old man. To the best of our knowledge, this is the fifth case of hepatic amyloidosis of AA type that clinically presented as fatal subacute hepatic failure, an unusual clinical presentation for hepatic involvement by systemic AA-type amyloid.

scholarly journals Yeast Surface Two-hybrid for Quantitative in Vivo Detection of Protein-Protein Interactions via the Secretory Pathway

2009 ◽  
Vol 284 (24) ◽  
pp. 16369-16376 ◽  
Author(s):  
Xuebo Hu ◽  
Sungkwon Kang ◽  
Xiaoyue Chen ◽  
Charles B. Shoemaker ◽  
Moonsoo M. Jin
Keyword(s):  
Protein Interactions ◽  
Secretory Pathway ◽  
Coiled Coil ◽  
Affinity Maturation ◽  
Antibody Binding ◽  
Soluble Form ◽  
Protein Protein Interactions ◽  
Yeast Surface ◽  
Two Hybrid

A quantitative in vivo method for detecting protein-protein interactions will enhance our understanding of protein interaction networks and facilitate affinity maturation as well as designing new interaction pairs. We have developed a novel platform, dubbed “yeast surface two-hybrid (YS2H),” to enable a quantitative measurement of pairwise protein interactions via the secretory pathway by expressing one protein (bait) anchored to the cell wall and the other (prey) in soluble form. In YS2H, the prey is released either outside of the cells or remains on the cell surface by virtue of its binding to the bait. The strength of their interaction is measured by antibody binding to the epitope tag appended to the prey or direct readout of split green fluorescence protein (GFP) complementation. When two α-helices forming coiled coils were expressed as a pair of prey and bait, the amount of the prey in complex with the bait progressively decreased as the affinity changes from 100 pm to 10 μm. With GFP complementation assay, we were able to discriminate a 6-log difference in binding affinities in the range of 100 pm to 100 μm. The affinity estimated from the level of antibody binding to fusion tags was in good agreement with that measured in solution using a surface plasmon resonance technique. In contrast, the level of GFP complementation linearly increased with the on-rate of coiled coil interactions, likely because of the irreversible nature of GFP reconstitution. Furthermore, we demonstrate the use of YS2H in exploring the nature of antigen recognition by antibodies and activation allostery in integrins and in isolating heavy chain-only antibodies against botulinum neurotoxin.

scholarly journals Airbag pneumonitis: a report and discussion of a new clinical entity

CJEM ◽  
2007 ◽  
Vol 9 (06) ◽  
pp. 470-473 ◽  
Author(s):  
Jaelyn M. Caudle ◽  
Robert Hawkes ◽  
Daniel W. Howes ◽  
Robert J. Brison
Keyword(s):  
Clinical Presentation ◽  
Motor Vehicle ◽  
Young Male ◽  
Motor Vehicle Crash ◽  
Clinical Entity ◽  
Shortness Of Breath ◽  
Pulmonary Infiltrates ◽  
Vehicle Crash ◽  
Chest Radiology ◽  
Airbag Deployment

ABSTRACT This report describes the occurrence of pneumonitis in a young male immediately after inhalation of aerosolized chemicals subsequent to motor vehicle airbag deployment. The clinical presentation was one of mild shortness of breath associated with bilateral alveolar infiltrates on chest radiology. Not previously described, this diagnosis should be considered in the differential of pulmonary infiltrates in motor vehicle crash patients.

scholarly journals Clinical findings in patients with GLI2 mutations - phenotypic variability

2011 ◽  
Vol 81 (1) ◽  
pp. 70-75 ◽  
Author(s):  
CDP Bertolacini ◽  
LA Ribeiro-Bicudo ◽  
A Petrin ◽  
A Richieri-Costa ◽  
JC Murray
Keyword(s):  
Phenotypic Variability ◽  
Clinical Findings

scholarly journals Ocular Sporotrichosis

2021 ◽  
Vol 7 (11) ◽  
pp. 951
Author(s):  
Max Carlos Ramírez-Soto ◽  
Andrés Tirado-Sánchez ◽  
Alexandro Bonifaz
Keyword(s):  
Clinical Presentation ◽  
Subcutaneous Tissue ◽  
Clinical Findings ◽  
Endogenous Endophthalmitis ◽  
Central System ◽  
Ocular Adnexa ◽  
Ocular Infections ◽  
The Usa ◽  
Mycological Examination ◽  
Skin Samples

Sporotrichosis is a subacute or chronic mycosis predominant in tropical and subtropical regions. It is an infection of subcutaneous tissue caused by Sporothrix fungus species, but occasionally resulting in an extracutaneous condition, including osteoarticular, pulmonary, nervous central system, and ocular disease. Cases of ocular sporotrichosis are rare, but reports have been increasing in recent decades. Ocular infections usually occur in hyperendemic areas of sporotrichosis. For its classification, anatomic criteria are used. The clinical presentation is the infection in the ocular adnexal and intraocular infection. Ocular adnexa infections include palpebral, conjunctivitis, and infections of the lacrimal sac. Intraocular infection includes exogenous or endogenous endophthalmitis. Most infections in the ocular adnexal have been reported in Brazil, China and Peru, and intraocular infections are limited to the USA and Brazil. Diagnosis is performed from Sporothrix isolation in the mycological examination from ocular or skin samples. Both sporotrichosis in the ocular adnexa and intraocular infection can mimic several infectious and non-infectious medical conditions. Ocular adnexa infections are treated with potassium iodide and itraconazole. The intraocular infection is treated with amphotericin B. This review describes the clinical findings and epidemiological, diagnosis, and treatment of ocular sporotrichosis.

scholarly journals Analysis of Gastrointestinal Symptoms in 281 Cases of Hospitalized Covid 19 Patients, Single-Center Study

2021 ◽  
Author(s):  
Gözde Derviş Hakim ◽  
Şükran Köse ◽  
Pınar Şamlıoğlu ◽  
Cengiz Ceylan ◽  
Mehmet Can Uğur ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Respiratory Symptoms ◽  
Clinical Presentation ◽  
Gastrointestinal Symptoms ◽  
Clinical Analysis ◽  
Clinical Findings ◽  
Gastrointestinal System ◽  
Detailed Review ◽  
Single Center Study ◽  
Gi Symptoms

Objective: Although Covid-19 which has been identified as the disease caused by SARS COV-2 virus mainly affects the respiratory tract, it was observed that many systems were affected. The gastrointestinal system is one of the main systems involved. The aim of this manuscript was to perform epidemiological, virological, and clinical analysis of 59 Covid 19-positive patients with gastrointestinal symptoms. Method: Covid-19 diagnosed patients have been started to be admitted since March, 20, 2020. Epidemiological, demographical, clinical findings, laboratory analyses as well as hospitalization periods and disease progression of the patients presenting gastrointestinal system (GIS) symptoms admitted between March, 31, 2020 and August, 1, 2020. Results: Totally 710 Covid 19-positive patients hospitalized were screened. Among these patients, those with incomplete medical history and deficient data were excluded. The analysis of 281 patients admitted due to Covid-19 diagnosis with complete data since admission revealed that 59 patients presented GIS symptoms at admission. The aforesaid patients were compared with 222 patients admitted due to Covid-19 without GIS symptoms within the same period. GIS symptoms were detected on 59 (59/281) (20.99%) patients admitted due to Covid-19. Detailed review of these patients revealed that 18 (18/59) (30.50%) patients had nausea-vomiting, 10 (10/59) (16.95%) patients had abdominal pain, and 31 (31/59) (52.55%) patients had GIS bleeding. It was observed that vomiting was added into the clinical presentation in 7 of 18 patients. Although there is not any diarrhea symptom alone, total number of cases with diarrhea+abdominal pain, diarrhea+nausea-vomiting, diarrhea+nausea-vomiting+abdominal pain was 17 (17/59) (28.81%) of 59 patients. Conclusion: According to the results of this study, we have found 20.99% gi symptoms in the hospitalizated patients due to Covid 19. Although GIS symptoms are not associated with disease severity, they are important for the identification and spread of the disease, along with respiratory symptoms.

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