Results 61 to 70 of about 85,832 (295)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Point-of-care Ultrasound for the Diagnosis of Ectopic Pregnancy

Journal of Education and Teaching in Emergency Medicine, 2017
History of present illness: A 31-year-old female presented to the Emergency Department by ambulance with severe abdominal pain and presyncope. On exam, the patient was hypotensive with suprapubic tenderness. Though the patient denied being pregnant, her
Ahmed Farhat, Jessica Hoffmann, Maili Alvarado   +2 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Retroperitoneal ectopic pregnancy localized to the mesorectum: A case report and mini-review of literature

Journal of International Medical Research
Retroperitoneal ectopic pregnancy is an extremely rare form of ectopic pregnancy that can be life-threatening due to severe intra-abdominal hemorrhage.
Junpeng Liu, Lianzi Liu, Yue Yu, Zhenwei Miao   +3 more
doaj   +1 more source

Persistent ectopic pregnancy after milking procedure: Case report [PDF]

, 2014
Ectopic pregnancy is the settlement of the pregnancy product at any site other than the endometrium. The incidence of ectopic pregnancy have increased in the last 20 years. Increased frequency and early diagnosis has led to conservative treatment methods
Didar Kurt, Murat Api, Mustafa Eroğlu, Semra Kayataş, Sevcan Arzu Arınkan   +4 more
core   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Kohdunulkoinen raskaus-systemaattinen kirjallisuuskatsaus [PDF]

, 2011
Tässä opinnäytetyössä tarkoituksena oli koota tieteellistä tietoa kohdunulkoisesta raskaudesta systemaattisen kirjallisuuskatsauksen avulla. Aihetta syvennettiin kolmen tutkimuskysymyksen avulla: Kuinka yleinen sairaus kohdunulkoinen raskaus on?
Itkonen, Emmi, Loimusalo, Katariina
core  

Caesarean section for non-medical reasons at term [PDF]

, 2006
Background: Caesarean section rates are progressively rising in many parts of the world. One suggested reason is increasing requests by women for caesarean section in the absence of clear medical indications, such as placenta praevia, HIV infection ...
Bewley, Birchard, Bost, Chippington Derrick, Clement, Dodd, Dodd, Farrell, Francome, Gamble, Gaskin, Goer, Hall, Hall, Hannah, Hannah, Hannah, Hemminki, Hofmeyr, Kelleher, Kirby, Klein, Lavender, Lilford, Lowdon, Macfarlane, Madar, Martin, McAleese, Mccourt, Minkoff, Neilson, Paterson-Brown, Paterson-Brown, Pence, Penna, Rortveit, Ryding, Serena, Smith, Smith, Sreevidya, Sultan, Sultan, Sultan, Sultan, Thomas, Treffers, Turnbull, Wagner, Wen, Whyte, Wolman   +52 more
core   +1 more source