Results 91 to 100 of about 257,764 (260)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

SECONDARY ABDOMINAL PREGNANCY AFTER ORGAN-PRESERVING SURGICAL TREATMENT OF TUBAL PREGNANCY (CLINICAL CASE)

Мать и дитя в Кузбассе
Abdominal pregnancy is a rare form of ectopic pregnancy that usually leads to an unfavorable outcome due to difficulties in timely diagnosis and should be detected early during routine antenatal examination.
Лариса Егоровна Фетищева, Алена Рамиловна Ахмадеева, Елизавета Владимировна Лаврова, Елена Владимировна Рудаева, Светлана Ивановна Елгина, Кира Борисовна Мозес, Григорий Валерьевич Вавин   +6 more
doaj  

Primary abdominal pregnancy following intra-uterine insemination

Journal of Human Reproductive Sciences, 2011
Primary abdominal pregnancy is an extremely rare type of extrauterine pregnancy. It has been reported from many unusual intra-abdominal sites. We report a case of primary abdominal pregnancy following intra-uterine insemination (not reported earlier to ...
Sujata Kar
doaj   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Abdominal Pregnancy in the Small Intestine Presenting as Acute Massive Lower Gastrointestinal Hemorrhage

Case Reports in Surgery, 2017
An abdominal pregnancy is an ectopic pregnancy in which the implantation site occurs in the abdominal cavity outside the female reproductive organs. There have been four reported cases that ruptured into the gastrointestinal tract and into the large ...
Apiradee Pichaichanlert, Vor Luvira, Nakhon Tipsunthonsak   +2 more
doaj   +1 more source

Ectopia cordis : a report of two cases in Cameroon [PDF]

, 2014
This article reports two cases of ectopia cordis in two children aged one day and twenty months respectively. A one day old newborn had complete thoracic ectopia cordis associated with an internal cardiac defect and severe thoracic and abdominal wall ...
Chelo, David, Koki Ndombo, Paul O., Mbassi Awa, Hubert Desire, Menanga, Alain P., Nde Kamgne, M., Ngo Um, Suzanne, Nguefack Dongmo, Felicitee   +6 more
core   +1 more source

Heterotopic pregnancy following ovulation induction by Clomiphene and a healthy live birth: A case report [PDF]

, 2008
Introduction: A heterotopic pregnancy is defined as the presence of a combined intrauterine and ectopic pregnancy. Its estimated incidence is accepted as between 1/7000 and 1/30,000 pregnancies.
Honarbakhsh, A., Khoori, E., Mousavi, S.
core   +2 more sources

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Abdominal-pelvic pain in female patients with endometriosis - a review of the literature [PDF]

, 2018
Abdominal-pelvic pain is the dominant symptom in endometriosis, one of the most common pathologies that affect women, being also a multifactorial disorder.
Andronache, Liliana Florina, Badiu, Cristinel Dumitru, Grigorean, Valentin Titus, Mandu, Mihaela, Mastalier, Bogdan, Mehedintu, Claudia, Paduraru, Dan Nicolae, Pantea Stoian, Anca Mihaela, Sima, Marina Romina   +8 more
core   +1 more source

The eVALuate study: two parallel randomised trials, one comparing laparoscopic with abdominal hysterectomy, the other comparing laparoscopic with vaginal hysterectomy [PDF]

, 2004
OBJECTIVE: To compare the effects of laparoscopic hysterectomy and abdominal hysterectomy in the abdominal trial, and laparoscopic hysterectomy and vaginal hysterectomy in the vaginal trial.
Abbott, J., Bridgman, S., Brown, J., Clayton, R., Fountain, J., Garry, R., Hawe, J., Lilford, R., Mason, S., Napp, V., Phillips, G., Whittaker, M.   +11 more
core   +2 more sources