multisystem disorder
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2022 ◽  
Vol 13 (1) ◽  
pp. 317-321
Author(s):  
Adidémè Monique EZIN

Alagille syndrome is an inherited multisystem disorder of autosomal dominant transmission. Its prevalence is estimated at 1 per 70,000 to 100,000 live births. We report the case of a young patient suffering from Alagille syndrome who consulted the center of diagnosis and dental treatment of Rabat - MOROCCO (CCTD). The general manifestations are facial dysmorphia, hepatic, cardiac, and ocular disorders. Hepatic cholestasis causes oral repercussions such as a yellow oral mucosa, hypomineralization of the teeth, and a high tendency to dental caries. The management of such a patient requires the knowledge of the general health of the patient, therefore collaboration with the attending physicians, the establishment of rigorous oral hygiene, personalized prophylaxis with a consequent contribution of fluorine.


2022 ◽  
Vol 8 ◽  
Author(s):  
Romain Dalla-Torre ◽  
Vincent Crenn ◽  
Pierre Menu ◽  
Bertrand Isidor ◽  
Pascale Guillot ◽  
...  

Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of the Rat Sarcoma/Mitogen-activated protein kinase (RAS/MAPK) pathway and characterized by short stature, heart defects, pectus excavatum, webbed neck, learning disabilities, cryptorchidism, and facial dysmorphia. Villonodular synovitis is a joint disorder most common in young adults characterized by an abnormal proliferation of the synovial membrane. Multifocal Villonodular synovitis is a rare disease whose recurrent nature can make its management particularly difficult. Currently, there is no systemic therapy recommended in diffuse and recurrent forms, especially because of the fear of long-term side effects in patients, who are usually young. Yet, tyrosine kinase inhibitors seem promising to reduce the effects of an aberrant colony stimulating factor-1 (CSF-1) production at the origin of the synovial nodule proliferation. We present here the case of a 21-year-old woman with NS associated to diffuse multifocal villonodular synovitis (DMVS). Our clinical case provides therapeutic experience in this very rare association. Indeed, in association with surgery, the patient improved considerably: she had complete daily life autonomy, knee joint amplitudes of 100° in flexion and 0° in extension and was able to walk for 10 min without any technical assistance. To our knowledge, this is the first case of a patient suffering from DMVS associated with a Noonan syndrome treated with Glivec® (oral administration at a dosage of 340 mg/m2 in children, until disease regression) on a long-term basis.


Vaccines ◽  
2022 ◽  
Vol 10 (1) ◽  
pp. 127
Author(s):  
Lawrence B. Afrin ◽  
Tania T. Dempsey ◽  
Leonard B. Weinstock

For nearly a decade, case reports and series have emerged regarding dysautonomias—particularly postural orthostatic tachycardia syndrome (POTS)—presenting soon after vaccination against human papilloma virus (HPV). We too have observed a number of such cases (all following vaccination with the Gardasil product), and have found several to have detectable mast cell activation syndrome (MCAS) as well as histories suggesting that MCAS was likely present long before vaccination. We detail 11 such cases here, posing a hypothesis that HPV vaccination (at least with the Gardasil product) may have triggered or exacerbated MCAS in teenagers previously not recognized to have it. Only recently recognized, MCAS is being increasingly appreciated as a prevalent and chronic multisystem disorder, often emerging early in life and presenting with inflammatory ± allergic phenomena following from known mast cell (MC) mediator effects. There is rising recognition, too, of associations of MCAS with central and peripheral neuropathic disorders, including autonomic disorders such as POTS. Given the recognized potential for many antigens to trigger a major and permanent escalation of baseline MC misbehavior in a given MCAS patient, we hypothesize that in our patients described herein, vaccination with Gardasil may have caused pre-existing (but not yet clinically recognized) MCAS to worsen to a clinically significantly degree, with the emergence of POTS and other issues. The recognition and management of MCAS prior to vaccinations in general may be a strategy worth investigating for reducing adverse events following HPV vaccinations and perhaps even other types of vaccinations.


2022 ◽  
Vol 12 ◽  
Author(s):  
Tannaz Moeini Shad ◽  
Reza Yazdani ◽  
Parisa Amirifar ◽  
Samaneh Delavari ◽  
Marzieh Heidarzadeh Arani ◽  
...  

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem disorder. A minority of AT patients can present late-onset atypical presentations due to unknown mechanisms. The demographic, clinical, immunological and genetic data were collected by direct interview and examining the Iranian AT patients with late-onset manifestations. We also conducted a systematic literature review for reported atypical AT patients. We identified three Iranian AT patients (3/249, 1.2% of total registry) with later age at ataxia onset and slower neurologic progression despite elevated alpha-fetoprotein levels, history of respiratory infections, and immunological features of the syndrome. Of note, all patients developed autoimmunity in which a decrease of naïve T cells and regulatory T cells were observed. The literature searches also summarized data from 73 variant AT patients with atypical presentation indicating biallelic mild mutations mainly lead to an atypical phenotype with an increased risk of cancer. Variant AT patients present with milder phenotype or atypical form of classical symptoms causing under- or mis- diagnosis. Although missense mutations are more frequent, an atypical presentation can be associated with deleterious mutations due to unknown modifying factors.


Author(s):  
Lota Ozola ◽  
Elīna Aleksejeva ◽  
Diāna Stoldere ◽  
Ineta Grantiņa ◽  
Zane Dāvidsone ◽  
...  

Eosinophilic granulomatosis with polyangiitis (EGPA; formerly known as Churg-Strauss syndrome) is classified as an anti-neutrophil cytoplasmic antibody (ANCA)-associated small vessel vasculitis. It is a multisystem disorder and can affect every organ system. EGPA is a rare disease, with an estimated prevalence of 1/70,000–100,000 in Europe. As its onset usually occurs in adulthood, data from paediatric patients are limited. We present here a very rare practical EGPA clinical case involving a paediatric patient. Presently, data on mepolizumab usage in paediatric patients are limited, with only a few case reports published.


2021 ◽  
Author(s):  
Erik A Koppes ◽  
Marie A Johnson ◽  
James J Moresco ◽  
Patrizia Luppi ◽  
Dale W Lewis ◽  
...  

Prader-Willi syndrome (PWS) is a multisystem disorder caused by loss of expression of a cluster of paternally-expressed, imprinted genes. Neonatal failure to thrive is followed by childhood-onset hyperphagia, obesity, neurobehavioral abnormalities, and hormonal deficits. Prior evidence from a mouse model with a deletion of the orthologous PWS-gene domain identified abnormal pancreatic islet development with deficient insulin secretion, hypoglucagonemia, and postnatal onset of progressive, lethal hypoglycemia. To investigate the role of PWS-genes in β-cell secretory function, we used CRISPR/Cas9 genome-editing to generate isogenic, clonal INS-1 insulinoma lines with 3.16 Mb deletions of the silent, maternal (control) or active, paternal (PWS) alleles. PWS β-cells showed a significant reduction in basal and glucose-stimulated insulin secretion, signifying a deficiency in cell-autonomous insulin secretion. Parallel proteome and transcriptome studies revealed reduced levels of secreted peptides and twelve endoplasmic reticulum (ER) chaperones, including HSPA5 and HSP90B1. In contrast to the dosage compensation previously seen for ER chaperones in Hspa5 or Hsp90b1 gene knockouts, compensation is precluded by the widespread deficiency of ER chaperones in PWS β-cells. Consistent with the reduced ER chaperone levels, PWS INS-1 β-cells are more sensitive to ER stress, leading to earlier activation of all three arms of the unfolded protein response. These results suggest that a chronic deficit of ER chaperones in PWS β-cells leads to a delay in ER transit and/or folding of insulin and other cargo along the secretory pathway. The findings illuminate the pathophysiological basis of hormone deficits in PWS and implicate PWS-imprinted genes in β-cell secretory pathway function.


Author(s):  
K. Manoharan ◽  
D. Manoharan ◽  
S. Sivaramakrishnan ◽  
Nehete Sanket Sanjay

Lupus Erythematosus is a multisystem disorder with a wide spectrum of clinical presentations ranging from cutaneous involvement to widespread systemic involvement. Squamous cell carcinoma formation in cutaneous lesions of LE is rare but had greater chances of metastases. Here, we report two cases, one of Discoid Lupus Erythematosus and other of Systemic Lupus Erythematosus complicated by development of squamous cell carcinoma over cutaneous lesions.


Author(s):  
Mahesh K. Chaudhari ◽  
Shiwani P. Dandade ◽  
Saurabh D. Borkar ◽  
Shivani K. Borkar ◽  
Archana Teltumbde

Background of the Study: Pre-eclampsia is a multisystem disorder with an unknown aetiology that appears as hypertension of 140/90 mm hg or higher with proteinuria after the 20th week in a previously normotensive and non-proteinuric woman. Pre-eclampsia is unique among hypertension illnesses in terms of the effects it has on maternal and newborn health. It is a leading cause of maternal and neonatal mortality and morbidity around the world. Objectives of the Study: 1. To assess the existing knowledge regarding pre-eclampsia among antenatal mothers. 2. To evaluate the effectiveness of planned teaching on knowledge regarding pre-eclampsia among antenatal mothers. 3. To find out the association between knowledge score with selected Demographic variables. Materials and Methods: 100 samples were taken from selected Hospital Wardha by Non probability sampling technique. Research design descriptive survey was used. Statistical compare ANOVA and t-test formula used. Results: In pre test Antenatal mothers have 65% fair knowledge regarding pre-eclampsia , and mean knowledge score was 2.02%. In post-test of Antenatal mothers have 52% Excellent knowledge and mean knowledge score was 0.97 % regarding management of pre-eclampsia. Conclusion: It is concluded that In Pre – test level of knowledge score fair was 65 % and mean knowledge score was 2.02 % And In Post - test level of knowledge score excellent was 52 % andmean knowledge score was 0.97 %. Study conclude that their is lack of knowledge of Pre-eclampsia among antenatal mothers. After the completion of the study it is revealed that the planned teaching program was effective in gaining the knowledge regarding management of pre-eclampsia among antenatal mothers. It can improve their health status and prevent from sideeffect.


2021 ◽  
Vol 12 ◽  
Author(s):  
Nazreen Kamarus Jaman ◽  
Preeya Rehsi ◽  
Robert H. Henderson ◽  
Ulrike Löbel ◽  
Kshitij Mankad ◽  
...  

Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis. Additional symptoms are still poorly defined. In this case study, we discuss 11 genetically confirmed cases, and report on emerging features involving other systems in addition to the eye phenotype.Methods: In total, 11 SRD5A3-CDG patients in five sets of sibships were included in the study. Data on 9 of 11 patients are as of yet unpublished. Patients’ results on biochemical and genetic investigations and on in-depth phenotyping are presented.Results: Key diagnostic features of SRD5A3-CDG are ophthalmological abnormalities with early-onset retinal dystrophy and optic nerve hypoplasia. SRD5A3-CDG is also characterized by variable neurological symptoms including intellectual disability, ataxia, and hypotonia. Furthermore, ichthyosiform skin lesions, joint laxity, and scoliosis have been observed in our cohort. We also report additional findings including dystonia, anxiety disorder, gastrointestinal symptoms, and MRI findings of small basal ganglia and mal-rotated hippocampus, whereas previous publications described dysmorphic features as a common finding in SRD5A3, which could not be confirmed in our patient cohort.Conclusion: The detailed description of the phenotype of this large cohort of patients with SRD5A3-CDG highlights that the key clinical diagnostic features of SRD5A3-CDG are an early onset form of ophthalmological problems in patients with a multisystem disorder with variable symptoms evolving over time. This should aid earlier diagnosis and confirms the need for long-time follow-up of patients.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. 989-990
Author(s):  
Russell Saltzman ◽  
Ivonne Schulman ◽  
Aisha Khan ◽  
Joshua Hare

Abstract Age-related frailty is a common geriatric condition characterized by a decline in physical and immunological capacity that is associated with depletion of endogenous stem cells and leads to increased vulnerability for adverse health outcomes. Allogeneic mesenchymal stem cells (allo-MSCs) exert immunomodulatory effects and promote tissue repair, which may be able to impede the negative effects of the aging process. The objective of this study was to explore the safety and efficacy of repeated infusions of allo-MSCs in subjects with aging-frailty. Mean age at time of first and second infusions was 75.5 and 77 years of age, respectively. In this open-label clinical trial, 24 participants received two intravenous infusions of allo-MSCs with an average interval of 17.6 months between doses. Safety endpoints included incidence of treatment-emergent serious adverse events (TE-SAEs) within 1-month post-infusion and increase in Panel Reactive Antibodies (PRAs) at 6-months post-infusion. Primary efficacy endpoint was change in 6-minute walk test (6MWT) distance at 6-months post-infusion. No TE-SAEs occurred within 1-month post-infusion. PRAs remained stable throughout the study, indicating no evidence of immune rejection. 6MWT increased by 42 meters after the first infusion (P=0.018). Eighteen months later elevation persisted (P=0.026), but did not increase further after the second infusion. In summary, repeated intravenous infusions of allo-MSCs were safe in participants with age-related frailty and showed remarkable improvement in physical performance. Given the excellent safety and efficacy profiles demonstrated in this study, larger clinical trials are warranted to further quantify the efficacy of repeated dosing of allo-MSCs in this multisystem disorder.


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