Results 81 to 90 of about 60,964 (282)

Myeloid sarcoma presenting as an isolated pancreatic mass in a 3‐year‐old child

JPGN Reports, EarlyView.
Abstract Myeloid sarcoma (MS) is an extramedullary tumor of myeloid precursor cells, frequently associated with acute myeloid leukemia (AML), and rarely occurring in isolation. We present a child with obstructive jaundice secondary to a pancreatic head mass.
Jappmann Kaur Monga, Cara L. Mack, Michelle Saad, Dylan Applin, Maisam Abu‐El‐Haija, David Vitale, Zachary Graff, Gila Ginzburg   +7 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation [PDF]

, 2015
Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations in caspase-8 lead to autoimmunity/lymphoproliferation and immunodeficiency. This work describes
Boggio, E, Cappellano, G, Chiocchetti, A., Clemente, N, Dianzani, C, Dianzani, I, Dianzani, U, Gigliotti, Cl, Notarangelo, Ld, Orilieri, E, Pignata, C, Quinti, Isabella, Ramenghi, U, Santoro, C, Toth, E, Valletti, Pa   +15 more
core   +2 more sources

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Gaucher's disease: report of 11 cases with review of literature

The Pan African Medical Journal, 2015
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to
Laila Essabar, Toufik Meskini, Najat Lamalmi, Said Ettair, Naima Erreimi, Nezha Mouane   +5 more
doaj   +1 more source

Extensive pelvic and abdominal lymphadenopathy with hepatosplenomegaly treated with radiotherapy—A case report

Journal of Family Medicine and Primary Care, 2020
This is a case report of a 65-year-old female patient diagnosed with Grade II Follicular Lymphoma of the pelvic and abdomen was treated with a combination of R-CHOP chemotherapy and radiotherapy.
Sahil Mittal, Shaikh A Hussain, Rahul V. C Tiwari, Ajith B Poovathingal, B Padma Priya, Rishabh Bhanot, Heena Tiwari   +6 more
doaj   +1 more source

Myeloid Sarcoma Presenting as Nasal and Orbital Mass: An Initial Manifestation of an Acute Myeloid Leukaemia [PDF]

Journal of Clinical and Diagnostic Research, 2017
Myeloid sarcoma is an extramedullary manifestation of Acute Myeloid Leukaemia and sometimes is the only indicator of the disease. The incidence varies between 3-9.1% of acute leukaemia cases.
Amita Jain Gupta, Shramana Mandal, Richa Gupta, Nita Khurana, Achal Gulati   +4 more
doaj   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Evidence‐based guideline for clinical practice in the diagnosis, treatment, management, and prevention of recurrent wheezing in infants and toddlers in China

Pediatric Investigation, EarlyView.
ABSTRACT Wheezing is a common respiratory symptom in infants and toddlers, and recurrent wheezing is a significant respiratory disorder affecting this age group. Given the multifactorial etiology of recurrent wheezing, clinical practice lacks standardized diagnostic and therapeutic protocols. Recent years have witnessed substantial progress in clinical
Committee of Pediatrics, China Medical Education Association, Cooperative Group of Asthma, the Subspecialty Group of Respiratory, the Society of Pediatrics, Chinese Medical Association, Pediatric Respiratory Work Committee, Society of Pulmonologists, Chinese Medical Doctor Association, Committee of Pediatrics, Chinese Research Hospital Association, Pediatric Professional Committee of the Chinese Non‐public Medical Institutions Association, Professional Committee of Children's Health and Pharmaceutical Research, China Association of Traditional Chinese Medicine, Children's Safe Medication Branch of China News of Drug Information Association, Pediatric Expert Committee of China Primary Health Care Foundation, China International Medical Foundation   +16 more
wiley   +1 more source

Liver Transplantation for Advanced Liver Disease with Alpha-1antitrypsin Deficiency [PDF]

, 1980
ALPHA-1-antitrypsin deficiency associated with chronic obstructive airway disease was recognized in 1963 by Laurell and Ericksson.1 In 1969, Sharp2 described the first cases of alpha-1-antitrypsin-deficiency disease in children with cirrhosis. Since then,
Allan G. Redeker, Anonymous, Brand, Cox, Eisen, Fagerhol, Gastel, Gerhard P. J. Schröter, Hirschberger, Jacobsson, Janoff, John M. Hood, Kueppers, Kuhlenschmidt, Laurell, Lawrence J. Koep, Odièvre, Putnam, Richard Weil, Robert L. Peters, Roy, Rynbrandt, Sharp, Sharp, Sharp, Thomas E. Starzl, Tálamo   +26 more
core   +1 more source