Search Results

Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs.

• Authors : Fitzwilliams, Therese¹ (AUTHOR); Wolff‐Sneedorff, Julie L.² (AUTHOR); Fredholm, Merete² (AUTHOR)

Subjects: *BULLDOG; *GENETIC testing; *MISSENSE mutation

• Source: Animal Genetics. Aug2023, Vol. 54 Issue 4, p566-569. 4p.

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Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing.

• Authors : Voermans, Nicol C.¹ (AUTHOR) ; Bhai, Salman^2,3 (AUTHOR); Laforet, Pascal⁴ (AUTHOR)

Subjects: *GENETIC testing; *RHABDOMYOLYSIS; *LSD (Drug)

• Source: Muscle & Nerve. Jul2024, p1. 4p. 2 Illustrations.

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How ApoE Testing Helps Gauge Disease Risk.

• Authors : EDWINS, RICHARD

Subjects: MEDITERRANEAN diet; PROTEINS; MEMORY

• Source: Life Extension. May2023, Vol. 29 Issue 5, p56-60. 5p.

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Risk factors and etiology of childhood hearing loss: a cohort review of 296 subjects.

• Authors : Niu, Kai (AUTHOR); Brandström, Anni (AUTHOR); Skenbäck, Sara (AUTHOR)

Subjects: AUDITORY perception testing; CHROMOSOME abnormalities; HEARING impaired childrenSWEDEN

• Source: Acta Oto-Laryngologica. Aug2020, Vol. 140 Issue 8, p668-674. 7p.

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Screening for late‐onset Pompe disease in Poland.

• Authors : Jastrzębska, Aleksandra (AUTHOR); Potulska‐Chromik, Anna (AUTHOR); Łusakowska, Anna (AUTHOR)

Subjects: GLYCOGEN storage disease type II; TANDEM mass spectrometry; MUSCLE weaknessPOLAND

• Source: Acta Neurologica Scandinavica. Oct2019, Vol. 140 Issue 4, p239-243. 5p.

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What do parents expect from a genetic diagnosis of their child with intellectual disability?

• Authors : Dikow, Nicola (AUTHOR); Moog, Ute (AUTHOR); Karch, Stephanie (AUTHOR)

Subjects: ANXIETY diagnosis; COMPETENCY assessment (Law); DECISION making

• Source: Journal of Applied Research in Intellectual Disabilities. Sep2019, Vol. 32 Issue 5, p1129-1137. 9p.

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Stroke and frailty index: a two-sample Mendelian randomisation study.

• Authors : Wei, Jiangnan; Wang, Jiaxian; Chen, Jiayin

Subjects: GENOME-wide association studies; RESEARCH funding; FRAIL elderly

• Source: Aging Clinical & Experimental Research; 5/22/2024, Vol. 36 Issue 1, p1-8, 8p

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PERSONALIZED HEALTHCARE AS AN INDICATOR OF PATIENT RESILIENCE.

• Authors : Brajković, Marija; Babić, Dragan

Subjects: PSYCHOLOGICAL resilience; ENVIRONMENTAL health; HEALTH status indicators

• Source: Health Bulletin / Zdravstveni Glasnik; May2024, Vol. 10 Issue 1, p136-152, 17p

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Assessment of a novel Ehlers-Danlos syndromes disability index.

• Authors : Chai, Stephen; Roney, Patricia; Fagan, John

Subjects: GOODNESS-of-fit tests; EHLERS-Danlos syndrome; T-test (Statistics)

• Source: Frontiers in Rehabilitation Sciences; 2024, p1-7, 7p

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The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.

• Authors : Ciancia, Silvia; Madeo, Simona Filomena; Calabrese, Olga

Subjects: MEDICAL history taking; PHYSICAL diagnosis; OCCUPATIONAL roles

• Source: Children; May2024, Vol. 11 Issue 5, p578, 15p

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More than autophony: a case of Kennedy's disease presenting with autophony as an early clinical manifestation.

• Authors : Lee, Hyung-Soo; Choi, June; Kwon, Do-Young

Subjects: WEIGHT loss; PHYSICAL diagnosis; SPEECH

• Source: Journal of Laryngology & Otology; May2024, Vol. 138 Issue 5, p584-587, 4p

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The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.

• Authors : Mansfield, Carol; Boeri, Marco; Coulter, Josh

Subjects: GENETIC testing; MUSCLE diseases; GLYCOGEN storage disease type II

• Source: Orphanet Journal of Rare Diseases; 4/22/2024, Vol. 19, p1-11, 11p

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Palliative Care in the Neonatal Intensive Care Unit: An Evolutionary Concept Analysis of Uncertainty in Anticipated Loss.

• Authors : Lenington, Kathryn; Dudding, Katherine M.; Fazeli, Pariya L.

Subjects: HOLISTIC medicine; PALLIATIVE treatment; NEONATAL intensive care units

• Source: Advances in Neonatal Care (Lippincott Williams & Wilkins); Apr2024, Vol. 24 Issue 2, p187-194, 8p

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Psychosocial impact of BRCA testing in young Black breast cancer survivors.

• Authors : Gonzalez, Brian D.; Hoogland, Aasha I.; Kasting, Monica L.

Subjects: BREAST cancer diagnosis; BREAST cancer patients; QUALITY of life

• Source: Psycho-Oncology. Dec2018, Vol. 27 Issue 12, p2778-2785. 8p. 2 Charts, 2 Graphs.

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Education Full Text (H.W. Wilson)

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The genetics of autosomal dominant familial hypercholesterolemia.

• Authors : Anderson, Sharon; Botti, Christina

Subjects: PHYSICAL diagnosis; STATINS (Cardiovascular agents); ANTILIPEMIC agents

• Source: Journal of the American Association of Nurse Practitioners; Feb2024, Vol. 36 Issue 2, p136-142, 7p

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Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients.

• Authors : Kridli, Nadine; Sturza, Julie; Michniacki, Thomas F.

Subjects: PATIENT reported outcome measures; SATISFACTION; ADULTS

• Source: Journal of Clinical Immunology; Feb2024, Vol. 44 Issue 2, p1-9, 9p

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Factors impacting quality of life for breast cancer survivors.

• Authors : Davis, Stephanie C.; Snyder, Elizabeth

Subjects: BREAST cancer prognosis; MENTAL illness risk factors; MORTALITY prevention

• Source: Nurse Practitioner. May2024, Vol. 49 Issue 5, p17-23. 7p.

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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.

• Authors : Leal‐Pardinas, Fernanda (AUTHOR); Truty, Rebecca (AUTHOR); McKnight, Dianalee A. (AUTHOR)

Subjects: GENETIC testing; NEURONAL ceroid-lipofuscinosis; SYMPTOMS

• Source: Epilepsia (Series 4). Jul2022, Vol. 63 Issue 7, pe68-e73. 6p.

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Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.

• Authors : Tumminelli, Cristina; Burlo, Francesca; Pastore, Serena

Subjects: THERAPEUTIC use of vitamin D; ERYTHROPOIETIC porphyria; PHOTOSENSITIVITY disorders

• Source: Italian Journal of Pediatrics; 11/23/2023, Vol. 49 Issue 1, p1-5, 5p

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Primary Failure Eruption: Genetic Investigation, Diagnosis and Treatment: A Systematic Review.

• Authors : Inchingolo, Francesco; Ferrara, Irene; Viapiano, Fabio

Subjects: ONLINE information services; GENETIC mutation; SYSTEMATIC reviews

• Source: Children; Nov2023, Vol. 10 Issue 11, p1781, 18p

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اثر دو نوع تمرین هوازی به همراه مصرف آترواستاتین بر بیومارکرهای بایوژنز میتوکندریایی (میوسیت‌های قلبی AMPK و سیتوکروم C) رت‌های مسن دیابتی.

• Authors : مجتبی رسولیان; جمشید بنایی بروج; پروین فرزانگی

Subjects: BIOMARKERS; STATISTICS; ANALYSIS of variance

• Source: Razi Journal of Medical Sciences; 2023, Vol. 30 Issue 7, p1-14, 14p

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Multiple Supernumerary Teeth: A Sign of an Underlying Syndrome?

• Authors : Amin, Nima; Parker, K.; Acharya, P.

Subjects: SUPERNUMERARY teeth; OCCUPATIONAL roles; ADENOMATOUS polyposis coli

• Source: Dental Update; Sep2023, Vol. 50 Issue 8, p682-688, 7p

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Health Supervision for Children and Adolescents With Down Syndrome.

• Authors : Bull, Marilyn J.; Trotter, Tracy; Santoro, Stephanie L.

Subjects: CHROMOSOME analysis; DIAGNOSIS of Down syndrome; COGNITION disorders

• Source: Pediatrics. May2022, Vol. 149 Issue 5, p1-23. 24p.

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Leukodystrophies in Children: Diagnosis, Care, and Treatment.

• Authors : Bonkowsky, Joshua L.; Keller, Stephanie

Subjects: HEREDITARY central nervous system demyelinating diseases; NEWBORN screening; PEDIATRICS

• Source: Pediatrics. Sep2021, Vol. 148 Issue 3, p1-15. 15p.

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Genetics and athletic performance: a systematic SWOT analysis of non-systematic reviews.

• Authors : Konopka, Magdalena Johanna; Sperlich, Billy; Rietjens, Gerard

Subjects: ATHLETIC ability; SWOT analysis; GENETIC testing

• Source: Frontiers in Genetics; 2023, p01-14, 14p

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Management of Patients With Pancreatic Cancer Using the "Right Track" Model.

• Authors : Rosenzweig, Allison; Berlin, Jordan; Chari, Suresh

Subjects: PANCREATIC tumors; GENETIC mutation; IMMUNE checkpoint inhibitors

• Source: Oncologist; Jul2023, Vol. 28 Issue 7, p584-595, 12p, 1 Diagram, 2 Charts

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Preimplantation genetic testing in assisted reproduction.

• Authors : MADERO, José I.; MANOTAS, María C.; GARCÍA-ACERO, Mary

Subjects: GENETIC testing; PREIMPLANTATION genetic diagnosis; REPRODUCTIVE technology

• Source: Minerva Obstetrics & Gynecology; Jun2023, Vol. 75 Issue 3, p260-272, 13p

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What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

• Authors : Köroğlu, Ekin Yiğit; Canpolat, Asena Gökçay; Yılmaz, Suna

Subjects: ANGIOKERATOMA corporis diffusum; MEDICAL screening; SENSORINEURAL hearing loss

• Source: Turkish Archives of Otolaryngology / Türk Otolarengoloji Arsivi; Jun2023, Vol. 61 Issue 2, p52-57, 6p

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Education Full Text (H.W. Wilson)

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Genetic polymorphisms are involved in oral health–related quality of life in skeletal class III patients submitted to orthognathic surgery.

• Authors : Meger, Michelle Nascimento; Gerber, Jennifer Tsi; Azeredo, Willian Martins

Subjects: ORTHOGNATHIC surgery; GENETIC polymorphisms; QUALITY of life

• Source: Clinical Oral Investigations; Apr2023, Vol. 27 Issue 4, p1409-1421, 13p, 1 Diagram, 11 Charts

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Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.

• Authors : AlMutiri, Rowim; Malta, Maisa; Shevell, Michael I.

Subjects: THALAMUS physiology; BIOCHEMISTRY; PROTEINS

• Source: Children; Mar2023, Vol. 10 Issue 3, p414, 17p

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Colon Cancer: Survivorship care case study, care plan, and commentaries.

• Authors : Howlett, Kristie; Schmitt, Mary L.; Bodmann, Joanna

Subjects: COLON tumors; PATIENT aftercare; PHYSICAL diagnosis

• Source: Clinical Journal of Oncology Nursing. Dec2021, Vol. 25 Issue 6, p43-49. 7p. 2 Charts.

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Analysis of Electric Field Stimulation in Blue Light Stressed 661W Cells.

• Authors : Bola, Sharanya; Subramanian, Pallavi; Calzia, Daniela

Subjects: ELECTRIC fields; BLUE light; UNFOLDED protein response

• Source: International Journal of Molecular Sciences; Feb2023, Vol. 24 Issue 4, p3433, 19p

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The sex-specific influence of FTO genotype on exercise intervention for weight loss in adult with obesity.

• Authors : Wang, Weimin; Yang, Ke; Wang, Shujie

Subjects: OBESITY treatment; REGULATION of body weight; AEROBIC exercises

• Source: European Journal of Sport Science; Dec2022, Vol. 22 Issue 12, p1926-1931, 6p, 2 Charts

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Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS).

• Authors : Usami, Shin-ichi (AUTHOR); Miyagawa, Maiko (AUTHOR); Nishio, Shin-ya (AUTHOR)

Subjects: SENSORY stimulation; TREATMENT of hearing disorders; MITOCHONDRIAL pathology

• Source: Acta Oto-Laryngologica. Apr2012, Vol. 132 Issue 4, p377-384. 8p. 4 Diagrams, 1 Chart.

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Prenatal genetic screening for intellectual disability.

• Authors : Edwards, S. D. (AUTHOR)

Subjects: DIAGNOSIS of fetal diseases; PRENATAL genetic testing; MENTAL efficiency

• Source: Journal of Intellectual Disability Research. Oct2003, Vol. 47 Issue 7, p526-532. 7p.

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Infantile Pompe disease with intrauterine onset: a case report and literature review.

• Authors : Xi, Hongmin; Li, Xianghong; Ma, Lili

Subjects: ECHOCARDIOGRAPHY; GENETIC mutation; CARDIAC hypertrophy

• Source: Italian Journal of Pediatrics; 11/21/2022, Vol. 48 Issue 1, p1-8, 8p

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BRCA1/2 Mutation Testing in Patients with HER2-Negative Advanced Breast Cancer: Real-World Data from the United States, Europe, and Israel.

• Authors : Mahtani, Reshma; Niyazov, Alexander; Arondekar, Bhakti

Subjects: STATISTICAL significance; GENETIC mutation; CONFIDENCE intervalsUNITED States; ISRAELEUROPEAN Union

• Source: Cancers; Nov2022, Vol. 14 Issue 21, p5399, 14p

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The influence of genetics on epilepsy syndromes in infancy and childhood.

• Authors : Yozawitz, Elissa; Moshé, Solomon L.

Subjects: TREATMENT of epilepsy; EPILEPSY prevention; GENETICS of epilepsy

• Source: Acta Epileptologica; 10/26/2022, Vol. 4 Issue 1, p1-10, 10p

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Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome.

• Authors : Shah, Ibrahim H.; Salo-Mullen, Erin E.; Amoroso, Kimberly A.

Subjects: HEREDITARY cancer syndromes; GENETIC testing; STOMACH cancer

• Source: Hereditary Cancer in Clinical Practice; 9/2/2022, Vol. 20 Issue 1, p1-13, 13p

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Endometriosis and irritable bowel syndrome: similarities and differences in the spectrum of comorbidities.

• Authors : Peters, M; Mikeltadze, I; Karro, H

Subjects: IRRITABLE colon; MEDICAL personnel; ENDOMETRIOSISEUROPEAN Union

• Source: Human Reproduction; Sep2022, Vol. 37 Issue 9, p2186-2196, 11p

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Back to the Genetic Future.

• Authors : Begley, Sharon

Subjects: FAMILY history (Medicine); MEDICAL history taking; PREVENTIVE medicine

• Source: Newsweek. 11/22/2010, Vol. 156 Issue 21, p26-26. 1p. 2 Color Photographs.

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Pheochromocytoma presenting with QT prolongation and catecholamine-induced myocarditis in a child.

• Authors : Kwannapas Saengsin; Saviga Sethasathien; Prapai Dejkhamron

Subjects: SYNCOPE; CHROMOGRANINS; VON Hippel-Lindau disease

• Source: Annals of Pediatric Cardiology; Mar/Apr2023, Vol. 16 Issue 2, p144-146, 3p

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Combined saposin deficiency: A rare occurrence.

• Authors : Bhat, Vivek; Thergaonkar, R.W.; Thakur, Manisha

Subjects: GAUCHER'S disease; LYSOSOMAL storage diseases; SYMPTOMS

• Source: Medical Journal Armed Forces India; Mar2023, Vol. 79 Issue 2, p238-240, 3p

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Habilitation of Child with Spinal Muscular Atrophy Type 2: A Case Report.

• Authors : Prananta, Marietta Shanti; Rahmawati, Mirna Minarti; Goesasi, Rachmat Zulkarnain

Subjects: SPINAL muscular atrophy; BREATHING exercises; GENETIC testing

• Source: Surabaya Physical Medicine & Rehabilitation Journal; Aug2022, Vol. 4 Issue 2, p81-89, 9p

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An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).

• Authors : Mao, Shao-Jia; Zhao, Jia; Shen, Zheng

Subjects: GLYCOGEN storage disease type II; LYSOSOMAL storage diseases; LITERATURE reviewsCHINA

• Source: BMC Pediatrics; 7/11/2022, Vol. 22, p1-5, 5p

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Medication Optimization Using Pharmacogenomic Testing in a Complex Mental Health Population Prescribed Psychiatric Polypharmacy.

• Authors : Wood, Amanda Ernst; Agrawal, Deepika; Deem, Alison P.

Subjects: PHARMACOGENOMICS; PILOT projects; POLYPHARMACY

• Source: Journal of Clinical Pharmacology; Jul2022, Vol. 62 Issue 7, p898-904, 7p

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Psychosocial Characteristics and Experiences in Patients with Multiple Endocrine Neoplasia Type 2 (MEN2) and Medullary Thyroid Carcinoma (MTC).

• Authors : Lockridge, Robin; Bedoya, Sima; Allen, Taryn

Subjects: BALDNESS; BODY weight; DIARRHEA

• Source: Children; Jun2022, Vol. 9 Issue 6, p774-N.PAG, 12p

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Pursuing Precision.

• Authors : Miller, Joshua

Subjects: GEFITINIB; ORPHAN drugs; DIFFUSION of innovationsUNITED States. Food & Drug Administration

• Source: Radiology Today; Apr2024, Vol. 25 Issue 3, p6-7, 2p

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