Clinical signs, interventions, and treatment course of three different treatment protocols in patients with Crouzon syndrome with acanthosis nigricans

2021 ◽  
pp. 1-7
Author(s):  
Catherine A. de Planque ◽  
Steven A. Wall ◽  
Louise Dalton ◽  
Giovanna Paternoster ◽  
Éric Arnaud ◽  
...  
Keyword(s):  
Acanthosis Nigricans ◽  
Severe Disease ◽  
Clinical Signs ◽  
Foramen Magnum ◽  
Crouzon Syndrome ◽  
Treatment Protocols ◽  
Disease Trajectory ◽  
Erasmus Medical ◽  
John Radcliffe Hospital ◽  
Effect Of Treatment

OBJECTIVE Crouzon syndrome with acanthosis nigricans (CAN) is a rare and clinically complex subtype of Crouzon syndrome. At three craniofacial centers, this multicenter study was undertaken to assess clinical signs in relation to the required interventions and treatment course in patients with CAN. METHODS A retrospective cohort study of CAN was performed to obtain information about the clinical treatment course of these patients. Three centers participated: Erasmus Medical Centre, Rotterdam, the Netherlands; John Radcliffe Hospital, Oxford, United Kingdom; and Hôpital Necker-Enfants Malades, Paris, France. RESULTS Nineteen patients (5 males, 14 females) were included in the study. All children were operated on, with a mean of 2.2 surgeries per patient (range 1–6). Overall, the following procedures were performed: 23 vault expansions, 10 monobloc corrections, 6 midface surgeries, 11 foramen magnum decompressions, 29 CSF-diverting surgeries, 23 shunt-related interventions, and 6 endoscopic third ventriculostomies, 3 of which subsequently required a shunt. CONCLUSIONS This study demonstrates that patients with the mutation c.1172C>A (p.Ala391Glu) in the FGFR3 gene have a severe disease trajectory, requiring multiple surgical procedures. The timing and order of interventions have changed among patients and centers. It was not possible to differentiate the effect of a more severe clinical presentation from the effect of treatment order on outcome.

scholarly journals Experimental infection of indigenous North African goats with goatpox virus

2021 ◽  
Vol 63 (1) ◽  
Author(s):  
Jihane Hamdi ◽  
Zahra Bamouh ◽  
Mohammed Jazouli ◽  
Meryem Alhyane ◽  
Najet Safini ◽  
...  
Keyword(s):  
Antibody Response ◽  
Experimental Infection ◽  
Subcutaneous Tissue ◽  
Severe Disease ◽  
Clinical Signs ◽  
Economic Losses ◽  
North African ◽  
Cutaneous Lesions ◽  
Viral Dna ◽  
Goatpox Virus

Abstract Background Goatpox is a viral disease caused by infection with goatpox virus (GTPV) of the genus Capripoxvirus, Poxviridae family. Capripoxviruses cause serious disease to livestock and contribute to huge economic losses. Goatpox and sheeppox are endemic to Africa, particularly north of the Equator, the Middle East and many parts of Asia. GTPV and sheeppox virus are considered host-specific; however, both strains can cause clinical disease in either goats or sheep with more severe disease in the homologous species and mild or sub-clinical infection in the other. Goatpox has never been reported in Morocco, Algeria or Tunisia despite the huge population of goats living in proximity with sheep in those countries. To evaluate the susceptibility and pathogenicity of indigenous North African goats to GTPV infection, we experimentally inoculated eight locally bred goats with a virulent Vietnamese isolate of GTPV. Two uninfected goats were kept as controls. Clinical examination was carried out daily and blood was sampled for virology and for investigating the antibody response. After necropsy, tissues were collected and assessed for viral DNA using real-time PCR. Results Following the experimental infection, all inoculated goats displayed clinical signs characteristic of goatpox including varying degrees of hyperthermia, loss of appetite, inactivity and cutaneous lesions. The infection severely affected three of the infected animals while moderate to mild disease was noticed in the remaining goats. A high antibody response was developed. High viral DNA loads were detected in skin crusts and nodules, and subcutaneous tissue at the injection site with cycle threshold (Ct) values ranging from 14.6 to 22.9, while lower viral loads were found in liver and lung (Ct = 35.7 and 35.1). The results confirmed subcutaneous tropism of the virus. Conclusion Clinical signs of goatpox were reproduced in indigenous North African goats and confirmed a high susceptibility of the North African goat breed to GTPV infection. A clinical scoring system is proposed that can be applied in GTPV vaccine efficacy studies.

scholarly journals Treatment of Experimental Allergic Neuritis With Prednisolone

1987 ◽  
Vol 14 (1) ◽  
pp. 46-49 ◽  
Author(s):  
T.E. Feasby ◽  
J.J. Gilbert ◽  
A.F. Hahn ◽  
D.S. Lovgren
Keyword(s):  
Microscopic Examination ◽  
Severe Disease ◽  
Clinical Signs ◽  
Clinical Disease ◽  
Rapid Recovery ◽  
Experimental Allergic Neuritis ◽  
Nerve Roots ◽  
Lewis Rats ◽  
Experimental Allergic ◽  
Allergic Neuritis

Abstract:Experimental allergic neuritis (EAN) in Lewis rats was treated with prednisolone given prophylactically or therapeutically. Rats treated from the time of immunization with myelin or after the establishment of clinical disease improved more rapidly than controls. Treatment at the onset of clinical signs resulted in less severe disease and more rapid recovery. Rats treated just prior to the onset of clinical signs (day 10) did not develop significant clinical disease and appeared to have less inflammation in their nerves and nerve roots on microscopic examination.

Delayed-Onset Neuropathological Complications From a Foramen Magnum and Occipital Crest Focused Traumatic Brain Injury of the Vietnam War and Other Conflicts: Part I, Case Report

2021 ◽  
Author(s):  
Frederick M Burkle ◽  
Kevin S Hadley ◽  
Leah L Ridge ◽  
Jan K Herman ◽  
Firas H Kobeissy
Keyword(s):  
Case Report ◽  
Vietnam War ◽  
Brain Injuries ◽  
Right Hemisphere ◽  
Clinical Signs ◽  
Vitreous Hemorrhage ◽  
Signs And Symptoms ◽  
Foramen Magnum ◽  
Delayed Onset ◽  
Clinical Signs And Symptoms

ABSTRACT Introduction The diagnosis of traumatic brain injuries is typically based on hemispheric blasts resulting in degrees of unconsciousness and associated cerebral injuries. This case report describes a Vietnam War era setting in which a traumatic blast wave struck the posterior cranium in the region of the foramen magnum, occipital crest, and other skull openings (orbit, oronasal, and ear) and the unique secondary clinical signs and symptoms experienced over time. Materials and Methods This case report describes secondary delayed-onset clinical signs and symptoms consistent with progressive decades-long physical and functional complications. The traumatic blast resulted in brief unconsciousness, decreased vision in left eye, confusion, right sided hemotympanum, deafness, severe tinnitus, severe nasopharynx pain and difficulty swallowing, pain in right posterior and occipital area of the head, and loss of dental amalgams. Subsequent exams revealed progressive hyperacusis, sea sickness, dysdiadochokinesis, diagnosis of 9th and 10th cranial nerve traumatic schwannomas, hyperdense changes to the frontal lobe white matter, progressive tinnitus, chronic vertigo, right-sided high-frequency hearing loss, progressive oculo-gyric crisis of Tumarkin-like seizures, left-sided chronic vitreous hemorrhage, and diminished right hemisphere performance of the brain based on neurophysiological assessment. No post-traumatic stress, depression, or other emotional or psychiatric difficulties were claimed. Conclusion This case report, unique to the English language scientific literature, discusses in detail the secondary signs and symptoms of a foramen magnum and occipital crest focused-associated blast injury.

scholarly journals Histopathology ofBordetella pertussisin the Baboon Model

2018 ◽  
Vol 86 (11) ◽  
Author(s):  
Lindsey I. Zimmerman ◽  
James F. Papin ◽  
Jason Warfel ◽  
Roman F. Wolf ◽  
Stanley D. Kosanke ◽  
...  
Keyword(s):  
Severe Disease ◽  
Clinical Signs ◽  
Human Infant ◽  
Mucus Production ◽  
Content Type ◽  
Age Related ◽  
Baboon Model ◽  
Relevant Animal Model ◽  
Significant Pathology ◽  
Conducting Airways

ABSTRACTPertussis is a severe respiratory disease caused byBordetella pertussis. The classic symptoms of pertussis include paroxysmal coughing with an inspiratory whoop, posttussive vomiting, cyanosis, and persistent coryzal symptoms. Infants under 2 months of age experience more severe disease, with most deaths occurring in this age group. Most of what is known about the pathology of pertussis in humans is from the evaluation of fatal human infant cases. The baboon model of pertussis provides the opportunity to evaluate the histopathology of severe but nonfatal pertussis. The baboon model recapitulates the characteristic clinical signs of pertussis observed in humans, including leukocytosis, paroxysmal coughing, mucus production, heavy colonization of the airway, and transmission of the bacteria between hosts. As in humans, baboons demonstrate age-related differences in clinical presentation, with younger animals experiencing more severe disease. We examined the histopathology of 5- to 6-week-old baboons, with the findings being similar to those reported for fatal human infant cases. In juvenile baboons, we found that the disease is highly inflammatory and concentrated to the lungs with signs of disease that would typically be diagnosed as acute respiratory distress syndrome (ARDS) and bronchopneumonia. In contrast, no significant pathology was observed in the trachea. Histopathological changes in the trachea were limited to cellular infiltrates and mucus production. Immunohistostaining revealed that the bacteria were localized to the surface of the ciliated epithelium in the conducting airways. Our observations provide important insights into the pathology of pertussis in typical, severe but nonfatal pertussis cases in a very relevant animal model.

Multiple sclerosis risk genotypes correlate with an elevated cerebrospinal fluid level of the suggested prognostic marker CXCL13

2012 ◽  
Vol 19 (7) ◽  
pp. 863-870 ◽  
Author(s):  
M Lindén ◽  
M Khademi ◽  
I Lima Bomfim ◽  
F Piehl ◽  
M Jagodic ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Neurological Diseases ◽  
Severe Disease ◽  
Human Leukocyte ◽  
Disease Course ◽  
Nucleotide Polymorphisms ◽  
Treatment Protocols ◽  
Tnfaip3 Gene ◽  
Cerebrospinal Fluid Level

Background: The mechanisms of multiple sclerosis (MS) pathogenesis are still largely unknown. The heterogeneity of disease manifestations make the prediction of prognosis and choice of appropriate treatment protocols challenging. Recently, increased cerebrospinal fluid (CSF) levels of the B-cell chemokine CXCL13 was proposed as a possible marker for a more severe disease course and conversion from clinically isolated syndrome (CIS) to relapsing–remitting MS (RRMS). Objective: To investigate whether there are genetic susceptibility variants in MS that correlate with the levels of CXCL13 present in the CSF of MS patients. Methods: We genotyped the human leukocyte antigens HLA-DRB1 and HLA-A, plus a panel of single nucleotide polymorphisms (SNPs) that have been associated with susceptibility to MS and then correlated the genotypes with the levels of CXCL13, as measured with ELISA in the CSF of a total of 663 patients with MS, CIS, other neurological diseases (OND) or OND with an inflammatory component (iOND). Results: Presence of the HLA-DRB1*15 and the MS risk genotypes for SNPs in the RGS1, IRF5 and OLIG3/TNFAIP3 gene regions correlated significantly with increased levels of CXCL13. Conclusion: Our results pointed towards a genetic predisposition for increased CXCL13 levels, which in MS patients correlates with the severity of the disease course. These findings encourage further investigation and replication, in an independent patient cohort.

scholarly journals Analysis of Virus Population Profiles within Pigs Infected with Virulent Classical Swine Fever Viruses: Evidence for Bottlenecks in Transmission but Absence of Tissue-Specific Virus Variants

2020 ◽  
Vol 94 (19) ◽  
Author(s):  
Camille Melissa Johnston ◽  
Ulrik Fahnøe ◽  
Louise Lohse ◽  
Jens Bukh ◽  
Graham J. Belsham ◽  
...  
Keyword(s):  
Classical Swine Fever Virus ◽  
Population Change ◽  
Virulent Strain ◽  
Severe Disease ◽  
Clinical Signs ◽  
Classical Swine Fever ◽  
Fever Virus ◽  
Host Cells ◽  
Virus Population ◽  
Highly Virulent

ABSTRACT Classical swine fever virus (CSFV) contains a specific motif within the E2 glycoprotein that differs between strains of different virulence. In the highly virulent CSFV strain Koslov, this motif comprises residues S763/L764 in the polyprotein. However, L763/P764 represent the predominant alleles in published CSFV genomes. In this study, changes were introduced into the CSFV strain Koslov (here called vKos_SL) to generate modified CSFVs with substitutions at residues 763 and/or 764 (vKos_LL, vKos_SP, and vKos_LP). The properties of these mutant viruses, in comparison to those of vKos_SL, were determined in pigs. Each of the viruses was virulent and induced typical clinical signs of CSF, but the vKos_LP strain produced them significantly earlier. Full-length CSFV cDNA amplicons (12.3 kb) derived from sera of infected pigs were deep sequenced and cloned to reveal the individual haplotypes that contributed to the single-nucleotide polymorphism (SNP) profiles observed in the virus population. The SNP profiles for vKos_SL and vKos_LL displayed low-level heterogeneity across the entire genome, whereas vKos_SP and vKos_LP displayed limited diversity with a few high-frequency SNPs. This indicated that vKos_SL and vKos_LL exhibited a higher level of fitness in the host and more stability at the consensus level, whereas several consensus changes were observed in the vKos_SP and vKos_LP sequences, pointing to adaptation. For each virus, only a subset of the variants present within the virus inoculums were maintained in the infected pigs. No clear tissue-dependent quasispecies differentiation occurred within inoculated pigs; however, clear evidence for transmission bottlenecks to contact animals was observed, with subsequent loss of sequence diversity. IMPORTANCE The surface-exposed E2 protein of classical swine fever virus is required for its interaction with host cells. A short motif within this protein varies between strains of different virulence. The importance of two particular amino acid residues in determining the properties of a highly virulent strain of the virus has been analyzed. Each of the different viruses tested proved highly virulent, but one of them produced earlier, but not more severe, disease. By analyzing the virus genomes present within infected pigs, it was found that the viruses which replicated within inoculated animals were only a subset of those within the virus inoculum. Furthermore, following contact transmission, it was shown that a very restricted set of viruses had transferred between animals. There were no significant differences in the virus populations present in various tissues of the infected animals. These results indicate mechanisms of virus population change during transmission between animals.

scholarly journals Radiation therapy of osteochondrodysplasia in Scottish fold cats

2019 ◽  
Vol 2019 (4) ◽  
pp. 5-8
Author(s):  
Максим Родионов ◽  
Maksim Rodionov ◽  
Мария Шиндина ◽  
Mariya Shindina ◽  
Ольга Елизарова ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Pain Relief ◽  
Physical Restraint ◽  
Clinical Signs ◽  
Dominant Type ◽  
Therapy Animals ◽  
Before And After ◽  
Radiological Control ◽  
Effect Of Treatment ◽  
Autosomal Dominant Type

Osteochondrodysplasia in the Scottish Fold cats is the genetic disease, inherited according to the autosomal-dominant type; it is manifested by the deformation of bones and cartilages of the skeleton in the form of unhealthy bone growths in the region of the wrist, metacarpal, fetlock, mesopodial and phalanx joints of breast and pelvic extremities, and also tailed vertebrae. Purpose of research. To assess the effectiveness of radiation therapy in the treatment of Scottish fold cats with osteochondrodysplasia. Materials and methods. 10 Scottish Fold cats (3 males, 7 females; age ― from 5 months to 10 years) with osteochondrodysplasia were treated from 2013 to 2017. All patients had clinical signs of disease in the form of skeletal growths in the wrist, metacarpus, finger bones, lumbar, sacral or tail spine. Most of them (9 of 10) were lame. All patients were examined clinically and radiologically before the treatment. Radiation therapy was carried out on gamma therapy unit «AGAT-R» with inclusion of the affected limbs to the middle of the shoulder or thigh. Immobilization was achieved either by general anesthesia or by means of physical restraint. Fraction doses used were 1.5 Gy up to total doses of 15.0 Gy, 2 to 3 fractions per week. Results. In 9 of 10 cases (90 %) there is a subjective improvement in mobility and regression of lameness after 6 months and furthermore after treatment. Two patients in the group died within 8 and 12 months from extraneous causes, others are alive and well for the time being with no need for pain relief. In three cases a radiological control of skeletal growths was performed, with no signs of progression 6.15 and 71 months after treatment. The maximum observation period is 2196 days, the observation median is 705 days. We used a questionnaire to improve the objectiveness of cat’s mobility and pain assessment before and after treatment. Based on animal owners’ answers the score for each symptom was assigned from 0 (severe dysfunction) to 2 (function not impaired). Scores from individual cases were summed, and the averaged total results were compared. Generally, after radiation therapy, animals’ mobility improved significantly (the averaged mobility score in the group imcreased from 3.0 to 6.5). Conclusion. The radiation therapy is an effective pathogenetic and symptomatic method of treatment of Scottish fold cats with osteochondrodysplasia: in most cases it leads to pain relief and increased mobility of the animal. According to clinical and radiological (in three cases) criteria, it can also be assumed that radiation therapy leads to suppression of the skeletal growths enlargement. The effect of treatment develops within 6 months after its completion and is persistent (lasts for many months and years). The technique involves the use of small total doses, so it does not cause complications and is practically safe for the patient.

scholarly journals Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3 : Beyond crouzon syndrome and acanthosis nigricans

2019 ◽  
Vol 7 (6) ◽  
Author(s):  
Karen Rymer ◽  
Rita Shiang ◽  
Anting Hsiung ◽  
Arti Pandya ◽  
Tim Bigdeli ◽  
...  
Keyword(s):  
Acanthosis Nigricans ◽  
Crouzon Syndrome

scholarly journals Diagnostic value of mean platelet volume in neonatal sepsis

2019 ◽  
Vol 59 (6) ◽  
pp. 289-93
Author(s):  
Kristopher May Pamudji ◽  
I Made Kardana
Keyword(s):  
Neonatal Sepsis ◽  
Predictive Value ◽  
Mean Platelet Volume ◽  
Severe Disease ◽  
Diagnostic Testing ◽  
Clinical Signs ◽  
Diagnostic Value ◽  
Platelet Volume ◽  
Good Potential ◽  
Sensitivity Specificity

Background Neonatal sepsis is a severe disease with potentially serious impacts if not treated early. However, the symptoms and clinical signs are not specific. Several studies have been conducted to find early infection markers for detection of neonatal sepsis, but without satisfactory results. Mean platelet volume (MPV) is a new marker of infection that has good potential for diagnosing neonatal sepsis. Objective To assess the diagnostic value of MPV in early detection of neonatal sepsis. Methods This retrospective study with diagnostic testing was done with data collected from medical records of neonates with neonatal sepsis who were admitted to the Neonatology Department in Sanglah Hospital, Denpasar from December 2018 to March 2019. Mean platelet volume cut-off point was determined using a receiver-operating characteristic (ROC) curve. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of MPV in neonatal sepsis were determined using a 2x2 table. Results Of 82 subjects, 55 subjects were male (67%). Positive blood culture results were found in 25 subjects (30%). Mean platelet volume with a cut-off point of 7.44 fL had 80% sensitivity, 84.2% specificity, 69% PPV, and 90.6% NPV. Conclusion Mean platelet volume with a cut-off point of 7.44 fL can be used to diagnose neonatal sepsis with a sensitivity of 80% and specificity of 84.2%.

scholarly journals Does the presence of emphysema increase the risk of radiation pneumonitis in lung cancer patients?

2018 ◽  
Vol 25 (6) ◽  
Author(s):  
G. Kasymjanova ◽  
R. T. Jagoe ◽  
C. Pepe ◽  
L. Sakr ◽  
V. Cohen ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Radiation Pneumonitis ◽  
Severe Disease ◽  
Ct Imaging ◽  
Chest Ct ◽  
Curative Intent ◽  
Treatment Protocols ◽  
Lung Cancer Patients ◽  
Increased Risk ◽  
High Doses

Introduction Radiotherapy (rt) plays an important role in the treatment of lung cancer. One of the most common comorbidities in patients with lung cancer is pulmonary emphysema. The literature offers conflicting data about whether emphysema increases the occurrence and severity of radiation pneumonitis (rp). As a result, whether high doses of rt (with curative intent) should be avoided in patients with emphysema is still unclear.Objective We measured the documented incidence of rp in patients with and without emphysema who received curative radiation treatment.Methods This retrospective cohort study considered patients in the lung cancer clinical database of the Peter Brojde Lung Cancer Centre. Data from the database has been used previously for research studies, including a recent publication about emphysema grading, based on the percentage of lung occupied by emphysema on computed tomography (ct) imaging.Results Using previously published methods, chest ct imaging for 498 patients with lung cancer was scored for the presence of emphysema. The analysis considered 114 patients who received at least 30 Gy radiation. Of those 114 patients, 64 (56%) had emphysema, with approximately 23% having severe or very severe disease. The incidence of rp was 34.4% in patients with emphysema (n = 22) and 32.0% in patients with no emphysema (n = 16, p = 0.48). No difference in the incidence of rp was evident between patients with various grades of emphysema (p = 0.96). Similarly, no difference in the incidence of rp was evident between the two treatment protocols—that is, definitive rt 17 (37%) and combined chemotherapy–rt 21 (31%, p = 0.5).Conclusions In our cohort, the presence of emphysema on chest ct imaging was not associated with an increased risk of rp. That finding suggests that patients with lung cancer and emphysema should be offered rt when clinically indicated. However, further prospective studies will be needed for confirmation.

Sign in / Sign up

Export Citation Format

Share Document