273 results match your criteria: "Alacrima"
Two siblings with triple A syndrome.
BMJ Case Rep
November 2024
Department of Medicine, Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India.
Article Synopsis
Very early and severe presentation of Triple A syndrome - case report and review of the literature.
Front Endocrinol (Lausanne)
October 2024
Department of Pediatrics, Faculty of Medicine and University, Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Article Synopsis
- Triple A syndrome (TAS), also known as Allgrove syndrome, is a rare genetic disorder characterized by three main symptoms: alacrima (lack of tears), achalasia (difficulty swallowing), and adrenal insufficiency.
- The disorder is caused by mutations in the ALADIN gene located on chromosome 12q13, affecting protein transport within cells and leading to various neurological issues in many patients.
- A case study details an infant who showed severe symptoms of TAS at just six months, resulting in complications like neurogenic bladder and acute pancreatitis, leading to a fatal outcome by 25 months, highlighting the importance of early diagnosis and awareness of the syndrome's variability.
Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency.
Glycobiology
September 2024
Glycometabolic Biochemistry Laboratory, RIKEN Cluster for Pioneering Research (CPR), Riken, 2-1 Hirosawa, Wako Saitama 351-0198, Japan.
Cytosolic peptide: N-glycanase (PNGase/NGLY1 in mammals) is an amidase (EC:3.5.1.
View Article and Find Full Text PDFBiallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
HGG Adv
October 2024
Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Article Synopsis
HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.
Genes (Basel)
May 2024
Pediatric Research, Murcian Institute for Biosanitary Research (IMIB) Pascual Parrilla, 30120 Murcia, Spain.
Article Synopsis
- HELIX syndrome, caused by mutations in the claudin 10 b protein, presents with symptoms like hypohidrosis, xerophthalmia, and skin issues, and was detailed in a 2017 study involving only ten families.
- In this study, two adult brothers from a consanguineous Spanish family exhibited various symptoms, including skin anomalies and salt-losing nephropathy due to a novel genetic deletion.
- The findings suggest that early recognition of symptoms associated with HELIX syndrome can prevent misdiagnosis, emphasizing the need for specific genetic testing to ensure timely diagnosis and management.
Isolated Congenital Lacrimal Gland Agenesis.
Cureus
April 2024
Department of Radiology, Boston Children's Hospital, Boston, USA.
Congenital alacrima is an uncommon condition marked by a lack of tear production that is present from birth. This condition often occurs in conjunction with various syndromes but can also result from isolated lacrimal gland agenesis. Congenital alacrima should be evaluated in the differential diagnosis for pediatric patients presenting with symptoms of dry eyes, especially in cases without xerostomia or other systemic rheumatologic findings.
View Article and Find Full Text PDFOcular features of NGLY1 deficiency from a prospective longitudinal cohort.
J AAPOS
June 2024
Neurology and Neurological Sciences, Stanford University, Palo Alto, California. Electronic address:
Article Synopsis
- * In a study involving 29 individuals, 90% reported ocular symptoms, with common issues being dryness, refractive errors, and infections; 62% used daily eye medications.
- * The study highlights the importance of specialized eye care and examinations for early diagnosis and management of vision-related problems in people with NGLY1 deficiency.
A missense variant in the gene cause Epileptic Encephalopathy and seizures in Saudi family.
Pak J Med Sci
January 2024
Muhammad Imran Naseer, Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Article Synopsis
- Researchers identified a gene involved in sorting proteins that affect nuclear gene expression and regulate cellular pathways, linked to several diseases including early infantile epileptic encephalopathy (EIEE66) and other developmental disorders.
- The whole exome sequencing (WES) technique was utilized to find genetic variants in a particular Saudi family displaying symptoms like developmental delay, mental retardation, and epilepsy, leading to the discovery of a specific heterozygous missense mutation.
- This mutation, c.625G>A p.Glu209Lys, found in exon-6 of the gene, may alter protein function and suggests a potential role in causing intellectual disability, epilepsy, and EIEE66 in the affected family.
Fertility and sexual activity in patients with Triple A syndrome.
Front Endocrinol (Lausanne)
March 2024
Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Objective: Triple A syndrome, caused by autosomal recessively inherited mutations in the gene is characterized by alacrima, achalasia, adrenal insufficiency, and neurological impairment. To the best of our knowledge, no patients of both sexes have been reported to have offspring. Our aim was to assess the causes of infertility in male patients with this multisystemic syndrome, and to present a female patient that spontaneously conceived a child.
View Article and Find Full Text PDFA 16-year-old boy presented with triple-A syndrome associated with neuromuscular disorders: a case report.
Ann Med Surg (Lond)
March 2024
Surgery Department, Aleppo University Hospital, Aleppo, Syria.
Introduction And Importance: Allgrove syndrome (AS) (AAA syndrome) is a rare autosomal recessive disease caused by mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes for the ALADIN protein (alacrima, achalasia, adrenal insufficiency, neurologic disorder). AS can manifest with a plethora of symptoms.
View Article and Find Full Text PDFTrends of Pulmonary Embolism-Related Sudden Cardiac Death in the United States, 1999-2019.
J Thromb Thrombolysis
March 2024
Cardiovascular Medicine Division and Thrombosis Research Group, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Article Synopsis
- The study analyzes trends in pulmonary embolism (PE)-related sudden cardiac death (SCD) mortality in the U.S. from 1999 to 2019, highlighting a significant increase over two decades.
- Data from the CDC shows that age-adjusted mortality rates rose by an average of 2.4% per year, with more pronounced increases among men, Whites, individuals under 65, and those living in rural areas.
- The findings reveal regional disparities, noting that the South had the highest rates of PE-related SCD, indicating a need for further research on the factors contributing to these trends.
Clinical and molecular features of four families with CLDN10-related HELIX syndrome.
Eur J Med Genet
December 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address:
Article Synopsis
- Biallelic pathogenic variants in the CLDN10 gene are linked to HELIX syndrome, a rare condition that leads to issues like inability to sweat and electrolyte imbalances.
- Patients typically show symptoms such as heat intolerance and reduced tear production, often noticeable shortly after birth.
- Recent studies included eight new patients with distinct symptoms, revealing a novel and a previously known genetic mutation responsible for the disorder.
Mortality trends, disparities, and social vulnerability in cardiac arrest mortality in the young: A cross-sectional analysis.
J Cardiovasc Electrophysiol
January 2024
Department of Cardiovascular Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
Background: Cardiac arrest (CA) is a leading cause of death in the United States (US). Social determinants of health may impact CA outcomes. We aimed to assess mortality trends, disparities, and the influence of the social vulnerability index (SVI) on CA outcomes in the young.
View Article and Find Full Text PDFTriple A syndrome: An unusual association with plurihormonal pituitary neuroendocrine tumour.
Clin Neurol Neurosurg
October 2023
Department of Neurosurgery, Royal Melbourne Hospital, Parkville, VIC, Australia; Department of Surgery, The University of Melbourne, Parkville, VIC, Australia.
Triple A syndrome is a rare genetic condition that can manifest in alacrima, achalasia, adrenal insufficiency, and commonly neurological disorders. We report on a patient with Triple A syndrome who underwent extensive workup for hyperhidrosis, subsequently found to have a pituitary neuroendocrine tumour causing acromegaly. Histopathology revealed an unusual plurihormonal PitNET of dual cell lineage.
View Article and Find Full Text PDFDon't forget Allgrove syndrome in adult patients as a bulbar-ALS mimicker.
Neurol Sci
October 2023
Department of Neurology and Stroke Unit, ASST Lecco Ospedale Alessandro Manzoni, Via Eremo 9/11, LC, 23900, Lecco, Italy.
Introduction: Allgrove syndrome is a genetic disorder characterized by a multisystem involvement manifesting mainly in childhood with esophageal achalasia, adrenal insufficiency, and alacrima. Associated neurological manifestations are frequent in patients with late-onset forms and include peripheral, central, and autonomic dysfunction. The definitive diagnosis remains genetic, but neurological symptoms/signs could be a relevant clue for the diagnosis.
View Article and Find Full Text PDFNGLY1 deficiency: a prospective natural history study.
Hum Mol Genet
September 2023
Grace Science Foundation, Menlo Park, CA 94026, USA.
Article Synopsis
- * A natural history study followed 29 patients for up to 32 months to assess the disease's clinical features; most showed significant developmental challenges and consistent issues with motor function and communication.
- * Findings from this study suggest important markers for future clinical trials, focusing on biomarker levels, cognitive assessments, motor skills, and quality of life as potential endpoints for evaluating treatments.
Impact of Hypermannosylation on the Structure and Functionality of the ER and the Golgi Complex.
Biomedicines
January 2023
Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
Article Synopsis
- Proteins in the secretory pathway undergo glycosylation in the ER and Golgi, with mutations in GDP-mannose pyrophosphorylase A (GMPPA) leading to AAMR syndrome, characterized by serious health issues.
- Loss of GMPPA disrupts normal glycosylation by increasing mannose incorporation, affecting proteins like α-dystroglycan (α-DG) and leading to fragmentation of the Golgi apparatus.
- Changes observed in cells with altered mannose levels mimic those seen with GMPPA loss, highlighting the critical role of balanced mannose levels for proper secretory pathway function.
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Orphanet J Rare Dis
December 2022
Rady Children's Institute for Genomic Medicine, 3020 Children's Way, San Diego, CA, USA.
Purpose: NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported to date, and (2) estimate the incidence of this disorder.
Methods: The Grace Science Foundation collected genotypic data from 74 NGLY1 Deficiency patients, of which 37 also provided phenotypic data.
Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability.
Clin Dysmorphol
January 2023
Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey.
The first report of a known 4A syndrome patient with suspected manifestations of COVID-19, what was the final outcome?
Heliyon
December 2022
Department of Internal Medicine, Clinical Research Development Unit, Imam Hossein Hospital, Shahroud University of Medical Sciences, Shahroud, Iran.
Article Synopsis
- A 24-year-old Iranian man was admitted to the hospital with suspected COVID-19 symptoms like fever, weakness, and cough, along with a medical history of Alacrima, esophageal Achalasia, and adrenal insufficiency.
- After tests including a COVID-19 RT-PCR that returned negative, imaging revealed ground-glass opacity and signs of pulmonary fibrosis in the patient’s lungs.
- Ultimately, further assessments led to the diagnosis of 4A syndrome, characterized by severe posterior cortical atrophy and bilateral atrophy of the lacrimal gland.
AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency.
Mol Ther Methods Clin Dev
December 2022
Grace Science, LLC, Menlo Park, CA 94025, USA.
Article Synopsis
- - *NGLY1 Deficiency is a rare genetic disorder with significant symptoms including developmental delays and movement disorders; currently, there’s no approved treatment.* - *GS-100, a gene therapy involving a specific adeno-associated virus, was tested in a rat model to deliver a healthy copy of the human NGLY1 gene through various administration routes.* - *Results showed that administering GS-100 either directly into the brain (ICV) or through both the brain and bloodstream (IV + ICV) led to better outcomes in gene expression and reduced disease markers compared to other methods.*
Allgrove syndrome: a case report.
Oxf Med Case Reports
October 2022
Gastroenterology Department, Damascus Hospital, Damascus, Syria.
Article Synopsis
- - Allgrove syndrome (AS) is a rare multi-system disorder marked by three main symptoms: reduced tear production (alacrima), adrenal insufficiency, and achalasia (problems with swallowing due to esophageal muscle issues).
- - It can affect the autonomic nervous system, becoming a more complex condition known as 4A syndrome, and is inherited in an autosomal recessive pattern.
- - Diagnosing AS is challenging due to its rarity and varying symptoms, as shown in a case where a patient took 15 years to receive a complete diagnosis after first showing signs of alacrima, adrenal insufficiency, and achalasia at different ages.
[A case of triple A syndrome with c.463C>T mutation in the AAAS gene].
Rinsho Shinkeigaku
September 2022
Department of Neurology, Faculty of Medicine, University of Toyama.
Article Synopsis
- * Upon examination, she exhibited symptoms like hyperreflexia, muscle atrophy, decreased sensation, and autonomic neuropathy.
- * Genetic testing revealed a mutation in the AAAS gene, leading to a diagnosis of triple A syndrome, a rare inherited disorder; testing for this gene should be considered for patients showing one or more related symptoms.
Triple A syndrome-related achalasia treated by per-oral endoscopic myotomy: Three case reports.
World J Clin Cases
July 2022
Department of Gastroenterology, Peking Union Medical College Hospital, Beijing 100730, China.
Article Synopsis
- Triple A syndrome is a rare genetic disorder marked by adrenal insufficiency, lack of tears (alacrima), and difficulty swallowing (achalasia).
- Per-oral endoscopic myotomy (POEM) has been effective for treating primary achalasia over the past 5 years, but its long-term effectiveness for achalasia linked to Triple A syndrome wasn't previously established.
- Studies show that POEM is both safe and effective for treating achalasia associated with Triple A syndrome, though there was a 66.7% recurrence of reflux esophagitis within 12 months post-procedure.
Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report.
J Med Case Rep
July 2022
Faculty of Medicine, Damascus University, Damascus, Syria.
Article Synopsis
- - Triple A syndrome is a rare genetic disorder defined by three main symptoms: adrenal insufficiency, alacrimia (lack of tears), and achalasia (difficulty swallowing), caused by mutations in the AAAS gene.
- - A case study of a 12-year-old girl in Syria highlighted symptoms like absence of tears, recurrent vomiting, and pulmonary infections, leading to her diagnosis after various tests confirmed the syndrome.
- - The syndrome can be challenging to diagnose and may be life-threatening, especially in areas with high rates of consanguineous marriage; this case marks the first documented instance of Triple A syndrome in Syria.