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#36468001   2022/11/18 To Up

Case report: Mild phenotype of a patient with vascular Ehlers-Danlos syndrome and duplication mutation without alteration in the [Gly-X-Y] repeat sequence.

Vascular-type Ehlers-Danlos syndrome (vEDS) is an autosomal dominant inherited disorder caused by a deficit in collagen III as a result of heterogeneous mutations in the α1 type III collagen gene (). Patients with vEDS often experience the first major complications in their early 20s and >80% have at least one complication by their 40s, reducing their average life expectancy to 48 years. Most commonly, vEDS variants are heterozygous missense substitutions of a base-pair encoding a glycine (Gly) residue of the [Gly-X-Y] repeat of the protein. When a peptide chain derived from a mutant allele is present in the procollagen triple helical structure, the helical structure cannot be maintained. Therefore, typically, the mutated collagen peptide induces a dominant negative effect on procollagen production. We reported the case of a patient with vEDS and a unique novel duplication mutation without alteration in the [Gly-X-Y] triplet repeat sequence. A 58-year-old man developed a sudden disorder of consciousness and abdominal pain and was consequently taken to a nearby hospital, where an intra-abdominal aneurysm was found, in addition to mild small joint hypermobility and acrogeria. There has been no history of spontaneous pneumothorax, dislocation, or subcutaneous hematoma. The analysis of genomic DNA from a blood sample identified a likely pathogenic in-frame duplication mutation in the gene coding region. Interestingly, this mutation is not expected to alter the [Gly-X-Y] triplet repeat sequence. We verified the mutation's pathogenicity by performing an analysis of synthetic procollagen from cultured skin fibroblasts, electron microscopy, and mRNA expression analysis of unfolded protein response sensors for endoplasmic reticulum (ER) stress. Although the clinical findings of the case were mild, when compared to typical vEDS, decreased α1 collagen III levels and morphological abnormalities of the collagenous bundles were observed in the patient samples when compared with the normal control samples. Our evidence supports the conclusion that this variant is pathogenic. However, unlike the common vEDS, ER stress was not observed, and the mild phenotype presentation was suggested to be due to the unique mutation, allowing the triple helical structure to be maintained to a certain extent.
Shujiro Hayashi, Tomomi Yamaguchi, Tomoki Kosho, Ken Igawa

1319 related Products with: Case report: Mild phenotype of a patient with vascular Ehlers-Danlos syndrome and duplication mutation without alteration in the [Gly-X-Y] repeat sequence.

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#36467319   // To Up

Optical Coherence Tomography (OCT) Diagnostic of Retinitis Pigmentosa - Case Study.

Retinitis pigmentosa (RP) is a set of inherited rod-cone degenerative diseases that clinically presents with similar signs and symptoms. Mutations in one of more than 70 genes are involved. Patients will commonly present with bone-spicule pigment formation, waxy optic nerve pallor, and attenuated blood vessels in the posterior pole.Symptoms often begin with progressive night blindness, mid-peripheral visual field defects, and eventual tunnel vision. Central vision loss will ultimately occur following loss of rod function. Complete blindness is uncommon.
Melita Adilovic, Emira Ignjatic, Arnes Cabric

1201 related Products with: Optical Coherence Tomography (OCT) Diagnostic of Retinitis Pigmentosa - Case Study.

100 per bag, 10 bags per

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#36466150   2022/11/25 To Up

Long-term effects of multiple concussions on prefrontal cortex oxygenation during neurovascular coupling activation in retired male contact sport athletes.

This study aimed to investigate the long-term effects of multiple concussions on prefrontal cortex oxygenation during a neurovascular coupling activating task using near infrared spectroscopy (NIRS).
Luke W Sirant, Jyotpal Singh, Steve Martin, Catherine A Gaul, Lynneth Stuart-Hill, Darren G Candow, Cameron Mang, J Patrick Neary

2958 related Products with: Long-term effects of multiple concussions on prefrontal cortex oxygenation during neurovascular coupling activation in retired male contact sport athletes.

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#36460426   // To Up

Acid dissolution of ultrathin glass-ceramic and its correlation with flexural strength.

When glass-ceramics are treated with hydrofluoric acid (HF), not only the area of application is affected but also other surfaces. Information regarding the correlation of the dissolution caused by HF and the flexural strength of the ceramic is lacking.
Carolina S Garfias, Mario Fernando de Goes

2839 related Products with: Acid dissolution of ultrathin glass-ceramic and its correlation with flexural strength.

10 mg 100 G 25 G 500 G 5 G100 MG 500 ml 5 g500 mg10 mg 5 G500 mg

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#36460313   2022/12/02 To Up

Subcutaneous panniculitis-like T-cell lymphoma: an unusual cause of right thigh hypertrophy.

A man in his mid-20s presented with a painless swelling over his right thigh, which had been progressively increasing over 3 years. He underwent an excisional biopsy for the same, which showed reactive lymphadenopathy. Since the last year and a half, he developed a lower abdominal wall swelling with mild redness over it. In addition, over the last few months before presentation to haematology outpatient clinic, he experienced bouts of fever, night sweats, anorexia, weight loss and right inguinal lymphadenopathy. On examination, splenomegaly was identified. In view of the patients' symptoms, he underwent a positron emission tomography scan, which showed hypermetabolic activity in the subcutaneous tissue sparing the lymph nodes and spleen. A deep skin punch biopsy taken from his right thigh was consistent with the diagnosis of subcutaneous panniculitis-like T-cell lymphoma αβ T-cell phenotype. The patient was treated successfully with oral steroids and on routine follow-up, he is in remission for 5 years.
Mahmoud Husni Ayesh Haj Yousef, Sohaib M Al-Khatib, Ruba A Khasawneh, Laith Rahabneh

1817 related Products with: Subcutaneous panniculitis-like T-cell lymphoma: an unusual cause of right thigh hypertrophy.

100 µg1 mg100ug100ug Lyophilized100 ug/vial0.1 mg1.00 mg0.2 mL2 mL

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#36457793   2022/11/25 To Up

Granulomatous mastitis (GM) in a young woman with a previous history of prolactin-secreting PitNET and actual normal prolactinemia.

Idiopathic granulomatous mastitis (IGM) is a rare inflammatory condition of the breast. IGM is a benign condition, and is more typical in women of child-bearing age, with a recent history of pregnancy and breast feeding. Its clinical presentation can mimic inflammatory breast cancer or breast abscess. The etiology of IGM is not well defined, but proposed to be a localized immune reaction to the breast tissue without the presence of an underlying infectious condition. Here we report a case of a healthy 35-year-old female, with no story of pregnancy and lactation, who presented with sudden left breast lump, swelling and pain. She underwent first diagnostic ultrasound of the affected breast, then breast MR imaging was performed. A biopsy of the lesion was obtained, which revealed chronic granulomatous inflammation, confirming the diagnosis of GM. Furthermore, the patient was found to have had hyperprolactinemia secondary to a prolactinoma of the pituitary gland (PitNET) many years before, during her 20s, for which she had been treated with surgery.
Cristiana Boldrini

2955 related Products with: Granulomatous mastitis (GM) in a young woman with a previous history of prolactin-secreting PitNET and actual normal prolactinemia.



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#36455021   2022/12/01 To Up

Life transition events and depressive symptom trajectories during young adulthood: The influence of adverse family and individual contexts in adolescence.

Because sequential patterns of multiple transition events (i.e., college graduation, full-time employment, marriage, and parenthood) are associated with turning points in depressive symptom trajectories during young adulthood, the present study used a sample of 446 White adolescents (52.3% females; 15.58 years old, on average) over 18 years (1992 to 2010) to (a) identify distinct between these sequential patterns of life transition events and turning points of depressive symptom trajectories by using a person-centered modeling approach and (b) investigate the influence of adverse family and individual contexts (negative family economic events, hostile relationships with parents, and impulsive sensation seeking) in adolescence on these longitudinal joint processes. We identified six longitudinal joint processes: (a) traditional transition pattern with no turning points in depressive symptom trajectories, (b) traditional transition pattern with turning points in depressive symptom trajectories in the mid-to-late 20s, (c) early parenthood transition pattern with no turning points in depressive symptom trajectories, (d) early parenthood transition pattern with turning points in depressive symptom trajectories in the mid-to-late 20s, (e) precocious transition pattern with no turning points in depressive symptom trajectories, and (f) precocious transition pattern with depressive symptom turning points (or fluctuations) throughout young adulthood. Negative family economic events, hostile relationships with parents, and impulsive sensation seeking in adolescence influenced these longitudinal joint processes. Hostile relationships with parents also uniquely influenced turning points in depressive symptoms during young adulthood while impulsive sensation seeking uniquely influence sequential patterns of life transition events. Clinical implications are discussed. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
Tae Kyoung Lee, Kandauda A S Wickrama, Catherine Walker O'Neal, Tricia K Neppl, Ben T Reeb

2078 related Products with: Life transition events and depressive symptom trajectories during young adulthood: The influence of adverse family and individual contexts in adolescence.

25 MG100ul2 Pieces/Box25 mg100 mg100

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#36451378   // To Up

Mixed ganglioneuroma and cortical adenoma in adrenal gland: A case report.

Adrenal mixed corticomedullary tumors (MCMTs) are single tumor masses composed of an intimately admixed population of both adrenal cortical cells and medullary components. Most medullary tumor components are pheochromocytomas; however, MCMTs composed of ganglioneuroma and adrenal cortical adenoma are extremely rare. The current case is a rare case of adrenal MCMT composed of ganglioneuroma and adrenal cortical adenoma with primary aldosteronism.
Yoo Na Kang

2308 related Products with: Mixed ganglioneuroma and cortical adenoma in adrenal gland: A case report.



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#36450418   2022/11/30 To Up

Venolymphatic malformation of tongue: a prompt life saving intervention.

Venolymphatic malformations (VLMs) of the head and neck can have varied clinical presentation with associated complications. Timely diagnosis and treatment is warranted to curb the morbidity and obtain satisfactory outcomes. We present the case of a male patient in his early 20s with VLM of the tongue who received precise interventions which were executed with active contributions from a team of anaesthesiologists, interventional radiologists, oral and maxillofacial surgeons and intensivists. We highlight the importance of an immediate, comprehensive and multimodal treatment approach for VLMs of the maxillofacial region.
Aparna Ganesan, Adarsh Ishwar Hegde, Tushar Suvra Ghosh, Kirti Chaudhry

1685 related Products with: Venolymphatic malformation of tongue: a prompt life saving intervention.

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#36447872   2022/11/18 To Up

Intracranial extramedullary hematopoiesis in a patient with beta-thalassemia presenting with head trauma.

Beta-thalassemia is an inherited hemoglobinopathy, whereby reduced or absent expression of beta-globin genes causes impaired erythropoiesis. Extramedullary hematopoiesis (EMH) occurs in 1% of all patients with beta-thalassemia major receiving regular transfusions and is exceedingly rare intracranially.
Noah M Nichols, Ashia M Hackett, Alejandro Carrasquilla, Paul Solodnik, Hang Byun, Salazar Jones, Zachary L Hickman

1032 related Products with: Intracranial extramedullary hematopoiesis in a patient with beta-thalassemia presenting with head trauma.

100ul100ug Lyophilized100ug100ug100ug100ug100ug96 tests100ug

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