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Inguinal syndrome

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https://www.readbyqxmd.com/read/28776093/identification-of-an-atypical-microdeletion-generating-the-rnf135-suz12-chimeric-gene-and-causing-a-position-effect-in-an-nf1-patient-with-overgrowth
#1
Luca Ferrari, Giulietta Scuvera, Arianna Tucci, Donatella Bianchessi, Francesco Rusconi, Francesca Menni, Elena Battaglioli, Donatella Milani, Paola Riva
Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The variable expressivity of the disease makes it challenging to establish genotype-phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype. The patient showed overgrowth, café au lait spots, inguinal freckling, and neurological abnormalities...
August 3, 2017: Human Genetics
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#2
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28727316/primary-inguinal-hernia-the-open-repair-today-pros-and-cons
#3
REVIEW
Giampiero Campanelli, Piero Giovanni Bruni, Andrea Morlacchi, Francesca Lombardo, Marta Cavalli
Open anterior repair for inguinal hernia offers several distinct advantages over endoscopic repair, especially when real-world effectiveness is taken into account. The learning curve for endoscopic techniques is long, whereas the Lichtenstein and other open tension-free techniques are easier to teach and replicate at all levels. The outcomes of Lichtenstein repairs for primary inguinal hernia as performed by non-experts and supervised residents are comparable to those of experts. Moreover, open tension-free repair does not require expensive instruments or dedicated equipment, other than the prosthetic mesh...
August 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28680349/serum-level-of-hmgb1-protein-and-inflammatory-markers-in-patients-with-secondary-peritonitis-time-course-and-the-association-with-clinical-status
#4
Ljiljana Milić, Ilijana Grigorov, Slobodan Krstić, Miljan S Ćeranić, Bojan Jovanović, Jelena Stevanović, Predrag Peško
BACKGROUND: Intra-abdominal infection in secondary peritonitis drives as excessive production of inflammatory mediators and the development of systemic inflammatory response syndrome (SIRS) or sepsis. Finding a specific marker to distinguish SIRS from sepsis would be of immense clinical importance for the therapeutic approach. It is assumed that high-mobility group box 1 protein (HMGB1) could be such a marker. In this study, we examined the time course changes in the blood levels of HMGB1, C-reactive protein (CRP), procalcitonin (PCT) and serum amyloid A (SAA) in patients with secondary peritonitis who developed SIRS or sepsis...
January 2017: Journal of Medical Biochemistry
https://www.readbyqxmd.com/read/28647635/new-vein-compression-entities-in-patients-with-unexplained-leg-swelling
#5
Alaina Garrie, Lauren E Jones, Julia F Chen, Robert W Feldtman, Kenneth R Kollmeyer, Jasmine L Richmond, Craig A Ferrara, Pablo V Uceda, Lelesse Mocio, Samuel S Ahn
BACKGROUND: This retrospective study identifies often overlooked anatomical sites for nonthrombotic venous outflow obstruction (NTVO) in patients with unexplained lower extremity edema and pain. METHODS: We reviewed the charts of 75 consecutive patients experiencing symptoms of unexplained lower extremity edema with pain that were unexplained by ultrasound, computed tomography angiography (CTA), and magnetic resonance imaging (MRI), who subsequently underwent venography in an outpatient medical office from 2010 to 2014...
June 21, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28645010/a-rare-case-of-male-pseudohermaphroditism-persistent-mullerian-duct-syndrome-with-transverse-testicular-ectopia-case-report-and-review-of-literature
#6
Aashish Rajesh, Mohammed Farooq
INTRODUCTION: Persistent Mullerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism. Transverse testicular ectopia (TTE) is characterized by one testis moving to the opposite side and both testes traversing the same inguinal canal. CASE PRESENTATION: An 11-month-old boy presented with bilateral cryptorchidism. The left testis was not palpable; the right testis was canalicular with a right inguinal hernia. Ultrasound showed both testes located in the right inguinal canal...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28638280/anticonvulsant-hypersensitivity-syndrome-after-phenytoin-administration-in-an-adolescent-patient-a-case-report-and-review-of-literature
#7
Malik Ghannam, Shaden Mansour, Aya Nabulsi, Qusay Abdoh
BACKGROUND: Hypersensitivity is a rare adverse drug reaction (ADR) associated with anti-epileptic medications. Phenytoin is one of the commonly used drugs for treatment of epilepsy that encounters a hypersensitivity reaction. This reaction can be ranged from mild cutaneous rash to anticonvulsant hypersensitivity syndrome (AHS) or drug reaction with eosinophilia and systemic symptoms (DRESS) that includes fever, rash, eosinophilia and involvement of multiple internal organs. CASE PRESENTATION: A 15 year old middle eastern female patient from Gaza strip with free past medical and allergic history...
2017: Clinical and Molecular Allergy: CMA
https://www.readbyqxmd.com/read/28624262/dibenzazepine-loaded-nanoparticles-induce-local-browning-of-white-adipose-tissue-to-counteract-obesity
#8
Chunhui Jiang, Mario Alberto Cano-Vega, Feng Yue, Liangju Kuang, Naagarajan Narayanan, Gozde Uzunalli, Madeline P Merkel, Shihuan Kuang, Meng Deng
Inhibition of Notch signaling via systemic drug administration triggers conversion of white adipocytes into beige adipocytes (browning) and reduces adiposity. However, translation of this discovery into clinical practice is challenged by potential off-target side effects and lack of control over the location and temporal extent of beige adipocyte biogenesis. Here, we demonstrate an alternative approach to stimulate browning using nanoparticles (NPs) composed of FDA-approved poly(lactide-co-glycolide) that enable sustained local release of a Notch inhibitor (dibenzazepine, DBZ)...
July 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28584567/radiological-findings-in-persistent-m%C3%A3-llerian-duct-syndrome-case-report-and-review-of-literature
#9
Khalid N Alharbi, Ayman O Khushaim, Mohannad Alrasheed, Mohammed Akhtar, Mohammed Neimatallah
This case involved a 36-year-old adult male who presented with an unusual inguinal hernia in which the uterus and fallopian tubes were identified as contents of the inguinal hernia sac. These findings reflected a rare autosomal recessive developmental syndrome known as PMDS (persistent Müllerian duct syndrome). The diagnosis was established and confirmed via radiological-mainly MRI-investigation.
March 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/28580040/pseudo-prune-belly-syndrome-diagnosis-revealed-by-imaging-a-case-report-and-brief-review
#10
Hemal Grover, Sanjay Sethi, Jatin Garg, Amrit Pal Ahluwalia
BACKGROUND: Prune Belly Syndrome (PBS) is a rare entity, usually found in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles. Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome (PPBS). Reports on PPBS do not highlight the radiological and imaging characteristics of this syndrome and the current literature on the role of newer imaging modalities, such as Magnetic Resonance Imaging (MRI), remains relatively sparse...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28537569/inguinal-pain-syndrome-the-influence-of-intraoperative-local-administration-of-0-5-bupivacaine-on-postoperative-pain-control-following-lichtenstein-hernioplasty-a-prospective-case-control-study
#11
Bartosz Cybułka
With current technological advancement and availability of synthetic materials used in inguinal hernia repair, a recurrence after first intervention is not a common and important adverse event. On the other hand, however, some patients complain about chronic pain of the operated site after surgeries using a polypropylene mesh. Many patients are constrained to a prolonged use of analgesics and increased frequency of control visits, which may eventually result in loss of trust in the operator. Every surgical intervention is associated with the risk of immediate or delayed complications...
April 30, 2017: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/28479975/penile-necrosis-secondary-to-purpura-fulminans-a-case-report-and-review-of-literature
#12
David B Hogarth, Paul M Cheon, Javeed Kassam, Alexander E Seal, Alexander G Kavanagh
We report the case of a 60-year-old Hispanic male with widespread necrotic purpuric lesions involving the penile, suprapubic, inguinal and hip dermis due to purpura fulminans. Purpura fulminans describes a rare syndrome involving intravascular thrombosis and hemorrhagic infarction of the skin; this rapidly progressing syndrome features vascular collapse and disseminated intravascular coagulation. This patient's penile necrosis involved the majority of the penile shaft and glans penis, and ultimately required partial glansectomy and repeated debridement for treatment...
February 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28449295/kbg-syndrome-an-australian-experience
#13
Natalia Murray, Bronwyn Burgess, Robin Hay, Alison Colley, Sulekha Rajagopalan, Julie McGaughran, Chirag Patel, Annabelle Enriquez, Linda Goodwin, Zornitza Stark, Tiong Tan, Meredith Wilson, Tony Roscioli, Mustafa Tekin, Himanshu Goel
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene. Consistent features included intellectual disability, macrodontia, and the characteristic broad forehead with hypertelorism, and a prominent nasal bridge. Common features included hand anomalies, cryptorchidism, and a large number of palate abnormalities...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28424097/unusual-course-of-generalized-lymph-node-primary-plasmacytoma-in-a-patient-with-sj%C3%A3-gren-s-syndrome-a-case-report
#14
Vadim R Gorodetskiy, Natalya A Probatova, Vladimir I Vasilyev
BACKGROUND: Primary lymph node plasmacytoma is a rare disease that typically involves lymph nodes of the neck. In only 15% of cases is the disease generalized. Here, we present a case of generalized lymph node plasmacytoma in a patient with Sjögren's syndrome with an unusual course. CASE PRESENTATION: A 48-year-old white woman presented to our hospital with enlargement of groups of lymph nodes, liver, and spleen. Her medical history was consistent with a 12-year course of Sjögren's syndrome...
April 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28386495/bilateral-sertoli-cell-tumors-in-a-patient-with-androgen-insensitivity-syndrome
#15
Roberta Fonseca de Souza, Janaina Pereira da Silva, Bruno Vieira Balla, Rodrigo Neves Ferreira, Antônio Chambô Filho
Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Santa Casa de Misericórdia Hospital in Vitória, Espírito Santo, Brazil...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28384965/anaesthetic-management-in-brugada-syndrome-a-case-report
#16
Sulochana Dash, Shanmugam Pragathee
Brugada Syndrome (BS) is a rare congenital cardiac disorder involving cardiac sodium channels, sometimes presenting with ventricular arrhythmia and sudden cardiac death. Here, we are reporting a case of BS who presented for laparotomy due to obstructed inguinal hernia which was managed satisfactorily with combined epidural and general anaesthesia without any complications.
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28384934/giant-inguinal-herniae-managed-by-primary-repair-a-case-series
#17
Madhur Anand, Ranendra Hajong, Narang Naku, Debobratta Hajong, K Lenish Singh
Giant inguinal hernia are usually found in developing countries due to delay in seeking medical attention. The management of such hernias may sometimes require procedures to increase the intra-peritoneal capacity prior to the repair of the giant hernia. Otherwise patients may develop abdominal compartment syndrome leading to various unwanted complications. Primary repair of giant hernias are possible in some cases without having significant post-operative complications. In this present case series, we have managed a total of four patients of giant inguinal hernia by primary repair without much post-operative complications...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28344607/locally-advanced-adenocarcinoma-of-the-cervix-on-uterus-didelphys-a-case-report
#18
Abel Cordoba, Alexandre Escande, Pauline Comte, Ingrid Fumagalli, Lucie Bresson, Ndaye Mubiayi, Eric Lartigau
In November 2013, a woman with Herlyn-Werner-Wunderlich (HWW) syndrome was diagnosed with a locally advanced left cervical adenocarcinoma. The patient's malformation consisted of two uteri with two cervixes, a obstructed vagina, and a left renal agenesis. Classification FIGO: stage IIIa because of infiltration of the inferior third of the vagina wall. Locoregional management comprised an infrarenal lateral aortic lymphadenectomy followed by concomitant radio-chemotherapy to the pelvic (inguinal, pelvic, and infrarenal para aortic nodes) volumes...
February 2017: Journal of Contemporary Brachytherapy
https://www.readbyqxmd.com/read/28344042/exercise-differentially-affects-metabolic-functions-and-white-adipose-tissue-in-female-letrozole-and-dihydrotestosterone-induced-mouse-models-of-polycystic-ovary-syndrome
#19
Rodrigo R Marcondes, Manuel Maliqueo, Romina Fornes, Anna Benrick, Min Hu, Niklas Ivarsson, Mattias Carlström, Samuel W Cushman, Karin G Stenkula, Gustavo A R Maciel, Elisabet Stener-Victorin
Here we hypothesized that exercise in dihydrotestosterone (DHT) or letrozole (LET)-induced polycystic ovary syndrome mouse models improves impaired insulin and glucose metabolism, adipose tissue morphology, and expression of genes related to adipogenesis, lipid metabolism, Notch pathway and browning in inguinal and mesenteric fat. DHT-exposed mice had increased body weight, increased number of large mesenteric adipocytes. LET-exposed mice displayed increased body weight and fat mass, decreased insulin sensitivity, increased frequency of small adipocytes and increased expression of genes related to lipolysis in mesenteric fat...
June 15, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28331809/persistent-mullerian-duct-syndrome-presenting-in-an-incarcerated-recurrent-inguinal-hernia-with-hydrocele
#20
Lauren Pulido, Gosta Iwasiuk, Michael Sparkuhl, Dang Bui, Haley Springs
Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair. A 49-year-old man presented to the clinic for recurrent inguinal hernia with enlarging left scrotum consistent with hydrocele on imaging. Upon exploration of the left groin, the left testis was pulled up into the abdomen, revealing a uterus, fallopian tube, and a second atrophic testis. Despite the rarity of HUI, the differential diagnosis for inguinal hernia with associated cryptorchidism and/or hydrocele should include this rare form of pseudohermaphroditism...
May 2017: Urology Case Reports
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