Results 91 to 100 of about 314,179 (314)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Antenatal corticosteroids [PDF]

Canadian Medical Association Journal, 2017
Julia, Kfouri, Rohan, D'Souza
openaire   +5 more sources

The Effectiveness of the Models and Guidelines on Detecting High-risk Pregnancies: A Systematic Review

Journal of Client-centered Nursing Care, 2022
Background: The models or guidelines that make it possible for pregnant mothers to diagnose high-risk pregnancy signs and symptoms are not clearly stated.
Taty Nurti, Asni Johari, M. Naswir, Herlambang Herlambang   +3 more
doaj  

ABC of antenatal care. Normal antenatal management. [PDF]

BMJ, 1991
? Preparation of the couple for childrearing Antenatal care in the 1990s has six functions (box). The first two are the same as any performed in an outpatient clinic (treatment of symptoms); the second two relate to multiphasic screening of which antenatal care was an early example; and the third pair are part of health education. Antenatal care in the
openaire   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Utilization of maternal health care services in Belbari VDC of Eastern Region of Nepal

Journal of Nobel Medical College, 2012
Background: Appropriate utilization of maternal health care services is very important to reduce the maternal morbidity and mortality rate in the country and healthful practices while caring mother is needed to improve the health condition of both mother
Buna Bhandari, Baburam Pokhrel, Bimala Bhatta, Rajib Karn, Ava Pokhrel, Nilambar Jha   +5 more
doaj   +1 more source

Pathways of the determinants of unfavourable birth outcomes in Kenya

, 2003
This paper explores the pathways of the determinants of unfavourable birth outcomes, such as premature birth, the size of the baby at birth, and Caesarean section deliveries in Kenya, using graphical loglinear chain models. The results show that a number
Diamond, Ian, Madise, Nyovani, Magadi, Monica, Smith, Peter   +3 more
core  

Health System Support for Childbirth care in Southern Tanzania: Results from a Health Facility Census. [PDF]

, 2013
Progress towards reaching Millennium Development Goals four (child health) and five (maternal health) is lagging behind, particularly in sub-Saharan Africa, despite increasing efforts to scale up high impact interventions.
A Jahn, A Nyamtema, A Nyamtema, A Pembe, AMDD, B Moller, BL Sorensen, C Kurowski, C McCord, C Pereira, C Ronsmans, Carine Ronsmans, Claudia Hanson, D Elbourne, D Urassa, D Urassa, F Manzi, F Manzi, Fatuma Manzi, G Bosse, G Mbaruku, Godfrey Mbaruku, H Kidanto, Hassan Mshinda, I Sorbye, J Armstrong Schellenberg, Jenny Jaribu, JK Rajaratnam, Joanna Schellenberg, JRMA Schellenberg, K Gross, K Makowiecka, L Gilson, M Kayongo, M Kruk, M Mrisho, M Sarker, Marcel Tanner, ME Kruk, ME Kruk, ME Kruk, Ministry of Health & Civil Service Department Tanzania, Ministry of Health (RCHS/NMCP), JHPIEGO, Ministry of Health and Social Welfare, Ministry of Health and Social Welfare, Ministry of Health-RCHS, GTZ, MY Yakoob, National Bureau of Statistics (NBS) Tanzania, ICF Macro, National Bureau of Statistics (NBS) Tanzania, Macro International Inc, OE Olsen, OM Campbell, R Pattinson, RE Black, S Cousens, S Penfold, S Scott, Stata Statistical Software, Suzanne Penfold, United Republic of Tanzania, Ministry of Health - Reproductive and Child Health Section, Werner Maokola, WHO, WHO, WHO, WHO, WHO, UNFPA, UNICEF, AMMD, WHO, UNFPA, UNICEF, The World Bank Group, WHO, UNICEF, WHO, UNICEF, UNFPA, The World Bank, ØE Olsen   +68 more
core   +5 more sources

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