keyword
https://read.qxmd.com/read/33563298/protein-signature-of-human-skin-fibroblasts-allows-the-study-of-the-molecular-etiology-of-rare-neurological-diseases
#1
Andreas Hentschel, Artur Czech, Ute Münchberg, Erik Freier, Ulrike Schara-Schmidt, Albert Sickmann, Jens Reimann, Andreas Roos
BACKGROUND: The elucidation of pathomechanisms leading to the manifestation of rare (genetically caused) neurological diseases including neuromuscular diseases (NMD) represents an important step toward the understanding of the genesis of the respective disease and might help to define starting points for (new) therapeutic intervention concepts. However, these "discovery studies" are often limited by the availability of human biomaterial. Moreover, given that results of next-generation-sequencing approaches frequently result in the identification of ambiguous variants, testing of their pathogenicity is crucial but also depending on patient-derived material...
February 9, 2021: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/33351314/-allgrove-syndrome-how-to-suspect-the-problem-endocrinologists-experience
#2
Natalya I Volkova, Ilya Y Davidenko, Igor B Reshetnikov, Snezhana S Brovkina
Allgrove syndrome (Alacrimia, Achalasia, Adrenal insufficiency, AAAS) is a rare autosomal recessive multisystem disease characterized by chronic adrenal insufficiency, alacrimia and achalasia of the cardia. This disease is often associated with various neurological disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrom. The occurrence of the disease is due to a mutation in the gene AAAS (12q13), which encodes the protein ALADIN. Here is a clinical observation of a patient with Allgrove syndrome...
August 4, 2020: Problemy E̊ndokrinologii
https://read.qxmd.com/read/33257136/allgrove-syndrome-in-a-toddler-alacrima-and-achalasia-with-no-adrenal-insufficiency
#3
Y Rivera-Suazo, M X Espriu-Ramírez, S A Trauernicht-Mendieta, L Rodríguez
No abstract text is available yet for this article.
November 27, 2020: Revista de Gastroenterología de México
https://read.qxmd.com/read/33143829/spectrum-of-addison-s-disease-in-children
#4
Taj Muhammad Laghari, Mohsina Noor Ibrahim, Zubair Khoso, Misbah Iqbal Hanif, Meher-Un-Nisa, Jamal Raza
OBJECTIVE: To determine the clinical presentation of Addison's disease in order to increase the awareness of presentation in Pakistani children. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Department of Diabetes and Endocrinology, National Institute of Child Health, Karachi, Pakistan, from 2015 to 2019. METHODOLOGY: Sixty-three children of Addison's disease were enrolled in the study, who have visited and facilitated from the services of National Institute of Child Health from urban and rural region of the Sindh province...
October 2020: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://read.qxmd.com/read/33087664/sporadic-triple-a-allgrove-syndrome-with-novel-tandem-mutations
#5
Haruna Miyazawa, Manami Kimura, Hisashi Yonezawa, Tetsuya Maeda
In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38-year-old Japanese man with triple A syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed marked axonal damage in several motor nerves. Tandem mutations in the AAAS gene may be involved in co-morbid motor neuron disease and aberrant electrophysiological findings.
October 21, 2020: Internal Medicine
https://read.qxmd.com/read/33070704/triple-a-syndrome-a-case-report
#6
Piyush Manoria
Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.
October 18, 2020: Tropical Doctor
https://read.qxmd.com/read/32754538/triple-a-syndrome-allgrove-syndrome-a-journey-from-clinical-symptoms-to-a-syndrome
#7
Prakarti Yadav, Deepak Kumar, Gopal K Bohra, Mahendra K Garg
Triple A syndrome (Allgrove syndrome) is characterized by a triad of specific features, namely, alacrimia, adrenal insufficiency, and achalasia cardia. It is a rare autosomal recessive disorder. In the present study, an 18-year-old boy was presented with complaints of decreased tears, darkening of the skin, difficulty in walking and standing up from sitting position, and difficulty in swallowing liquids. Adrenal insufficiency, alacrimia, achalasia, and neurological manifestations were confirmed with relevant laboratory investigations...
May 2020: Journal of Family Medicine and Primary Care
https://read.qxmd.com/read/32700293/triple-a-allgrove-syndrome-due-to-aaas-gene-mutation-with-a-rare-association-of-amyotrophy
#8
REVIEW
Satyam Singh Jayant, Rahul Gupta, Kanhaiya Agrawal, Liza Das, Pinaki Dutta, Anil Bhansali
INTRODUCTION: Triple A (Allgrove) syndrome is a rare autosomal recessive disorder characterized by cardinal features of primary adrenal insufficiency (AI) due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrima. It is frequently associated with neurological manifestations such as autonomic dysfunction, cognitive dysfunction, cranial nerve, or motor involvement. Amyotrophy/motor neuron disease is a rare association. CASE PRESENTATION: We herein report a 19-year-old boy diagnosed with triple A syndrome (TAS), with the classic triad of ACTH-resistant adrenal insufficiency, achalasia, and alacrima...
July 22, 2020: Hormones: International Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/32698619/the-use-of-topical-cyclosporine-a-0-05-as-treatment-for-primary-alacrimia-in-allgrove-syndrome
#9
Jéssica Botella García, Víctor Lázaro-Rodríguez, Maria Fideliz de la Paz
INTRODUCTION: The purpose is to report a case on the use of cyclosporine A 0.05% for primary alacrimia in Allgrove syndrome or triple A syndrome (alacrimia, achalasia, and adrenal insufficiency). CASE DESCRIPTION: A 37-year-old man with achalasia treated surgically 11 years ago presented with sensation of a foreign body, irritation, and intermittent ocular redness for several years. Ophthalmological examination revealed bulbar hyperemia, Oxford grade 4 corneal staining, anisocoria, and optic atrophy...
July 22, 2020: European Journal of Ophthalmology
https://read.qxmd.com/read/32589602/4th-a-in-a-triple-a-syndrome-a-rare-case-report
#10
K MaheshKumar, Shriraam Mahadevan, Padmavathi Ramaswamy
Objectives AAA (Allgrove) syndrome is a rare genetic disorder characterized by cardinal features of adrenal insufficiency, achalasia, and alacrimia. Case presentation A 21 year girl of known case of Triple A syndrome was referred for the evaluation of autonomic function. She was born full term with developmental delay and abnormal gait. Esophageal manometry study by pneumatic balloon dilatation revealed the presence of achalasia cardia. She had signs of peripheral neuropathy and had episodes of fainting and suspected orthostatic hypotension...
June 24, 2020: Journal of Basic and Clinical Physiology and Pharmacology
https://read.qxmd.com/read/32529155/peroral-endoscopic-myotomy-in-a-child-with-triple-a-syndrome-allgrove-syndrome
#11
Riccardo Rizzo, Valerio Balassone, Filippo Torroni, Paola De Angelis, Luigi Dall'Oglio
No abstract text is available yet for this article.
June 2020: VideoGIE
https://read.qxmd.com/read/32481456/case-report-of-a-familial-triple-a-syndrome-and-review-of-the-literature
#12
Federica Gaiani, Pierpacifico Gismondi, Roberta Minelli, Giovanni Casadio, Nicola de'Angelis, Fabiola Fornaroli, Gian Luigi de'Angelis, Marco Manfredi
RATIONALE: Triple-A syndrome, or Allgrove syndrome (AS), is a rare autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia usually starts at early infancy, while achalasia and adrenal insufficiency appear later during childhood or adulthood. Some patients may also present with the so-called Double-A syndrome (i.e., alacrimia and achalasia, or alacrimia and adrenal insufficiency); adrenal insufficiency usually represents a life-threatening event due to severe hypoglycemia...
May 29, 2020: Medicine (Baltimore)
https://read.qxmd.com/read/32185032/respiratory-infections-and-chronic-cough-due-to-triple-a-allgrove-syndrome
#13
Hengqi Zheng, Ramesh S Iyer, M Cristina Pacheco, Jennifer Jean Soares, Kaalan Johnson, Mary Len, Lusine Ambartsumyan
Cough and respiratory infections are common in pediatrics. Our case report illustrates the need for pediatricians to consider rare diagnoses such as genetic syndromes and primary gastrointestinal motility disorders in patients with unremitting respiratory and gastrointestinal symptoms. Early identification provides early intervention and reduces long-term morbidity for pediatric patients.
March 2020: Clinical Case Reports
https://read.qxmd.com/read/32073457/allgrove-syndrome-a-report-of-new-pathological-variants-in-the-aaas-gene
#14
Samir Jabbour, Patrick Hamel, Jean-François Soucy, Luis H Ospina
PURPOSE: To report 2 novel variants in the AAAS gene consistent with the diagnosis of Allgrove syndrome. METHODS: A 12-year-old girl was referred to our clinic for progressive bilateral decrease in visual acuity. She was known for achalasia that had been surgically treated at a very early age. On examination, she was found to have dry eye disease secondary to lacrimal insufficiency. She also had anisocoria, light-near dissociation, and bilateral optic nerve atrophy...
February 17, 2020: Cornea
https://read.qxmd.com/read/31967070/clinical-course-of-a-unique-case-of-allgrove-syndrome-and-challenges-of-hypoglycemia-management
#15
Chang Lu, Ting A Lee, Debra H Pan, Elaine M Pereira, Ping Zhou
Objective: Allgrove syndrome (AS), also known as triple-A syndrome, is a rare disorder characterized by alacrima, achalasia, adrenal insufficiency, and other manifestations such as problems related to growth, puberty, and neuropsychological development. Although the genetics of this disorder have been studied extensively in recent decades, clinical information is still lacking. Methods: We present a unique case of AS from which we have gained significant insight into its clinical course, especially the management of hypoglycemia...
November 2019: AACE Clinical Case Reports
https://read.qxmd.com/read/31937715/allgrove-syndrome-and-a-novel-mutation-of-aaas-gene-in-a-boy
#16
LETTER
Saniya Gupta, Devi Dayal
No abstract text is available yet for this article.
January 15, 2020: Indian Pediatrics
https://read.qxmd.com/read/31695556/triple-a-syndrome-allgrove-syndrome-improving-outcomes-with-a-multidisciplinary-approach
#17
Myrto Eleni Flokas, Michael Tomani, Levon Agdere, Brande Brown
Allgrove syndrome or triple A (3A) syndrome is a multisystem disorder which classically involves the triad of esophageal achalasia, alacrima, and adrenal insufficiency due to adrenocorticotropin hormone insensitivity. It follows an autosomal recessive pattern of inheritance and is associated with mutations in the AAAS (achalasia-addisonianism-alacrima syndrome) gene. Since its first description in 1978, the knowledge on clinical and genetic characteristics has been expanding; however, the current literature is limited to case reports and case reviews...
2019: Pediatric Health, Medicine and Therapeutics
https://read.qxmd.com/read/31600784/loss-of-the-nucleoporin-aladin-in-central-nervous-system-and-fibroblasts-of-allgrove-syndrome
#18
Giacomo Bitetto, Dario Ronchi, Sara Bonato, Alessandra Pittaro, Giacomo Monzio Compagnoni, Andreina Bordoni, Sabrina Salani, Emanuele Frattini, Gianluca Lopez, Fulvia Milena Cribiù, Stefania Corti, Giacomo P Comi, Nereo Bresolin, Alessio Di Fonzo
Allgrove syndrome (AS) is a rare disease with broad neurological involvement. Neurodegeneration can affect spinal motor neurons, Purkinje cells, striatal neurons, and the autonomic system. The mechanisms that lead to neuronal loss are still unclear. Recessive mutations in the AAAS gene affect the encoded protein Aladin, which would normally localize to the cytoplasmic face of the nuclear membrane as part of the nuclear pore complex (NPC). While the NPC is known to be a key factor for nucleo-cytoplasmic transport, the precise role of Aladin has not been elucidated yet...
October 10, 2019: Human Molecular Genetics
https://read.qxmd.com/read/31142422/a-child-with-weight-loss-and-alacrimation-triple-a-syndrome
#19
Qurat Ul Ain, Naveed Asif, Noreen Shahzad, Waqas Hanif Sheikh
Triple A syndrome or Allgrove's syndrome is a rare autosomal recessive disorder usually manifested with three main clinical features, i.e. achalasia, alacrimation and adrenal inadequacy. Sometimes, it presents with polyneuropathy and neurological complications. Here, we report a case of a 7-year girl presenting with features of weight loss who was diagnosed with adrenal insufficiency at the age of 7 years while achalasia was diagnosed at the age of 3 years. First manifestation was achalasia and at that time, alacrimation was also defected...
June 2019: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://read.qxmd.com/read/30501443/clinical-decision-making-and-application-of-an-active-rehabilitation-program-for-a-person-with-the-neuromuscular-symptoms-of-allgrove-syndrome-a-case-report
#20
Joseph T Adams
BACKGROUND: Allgrove syndrome is a multisystem disorder first described in 1978 and is classically associated with esophageal achalasia, alacrima, and adrenal insufficiency. Allgrove syndrome is caused by homozygous and/or compound heterozygous mutations on Chromosome 12q13, designated as "AAA" (Achalasia, Addisonianism Alacrima). AAA encodes the protein ALADIN (Alacrima, Achalasia, aDrenal Insufficiency Neurologic disorder), a member of the nuclear porin family forming the nuclear pore complex...
December 3, 2018: Physiotherapy Theory and Practice
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