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Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention
Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome.
Meir Lotan, Bruria Ben-Zeev
doaj +1 more source
Urrets-Zavalia syndrome after deep anterior lamellar keratoplasty [PDF]
Introduction. Urrets-Zavalia syndrome is an uncommon complication of the deep anterior lamellar keratoplasty in keratoconus. The manifestations of this syndrome are an irreversible mydriasis, iris atrophy and secondary glaucoma. Case report.
Jovanović Vesna, Nikolić Ljubiša
doaj +1 more source
Hughes syndrome antiphospholipid syndrome
An increasingly important link between aPL antibodies and a clinical syndrome is becoming recognized worldwide. This syndrome, known as the antiphospholipid syndrome (APS) or Hughes syndrome, is a prothrombotic disorder leading to both arterial and venous thrombosis and, in pregnancy, recurrent abortion and pregnancy loss (Figure 13.1).
openaire +2 more sources
Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine +17 more
wiley +1 more source
Past research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety disorders and depressive symptoms, at much ...
P. Maxwell Slepian +11 more
doaj +1 more source
Scimitar syndrome in infancy [PDF]
Scimitar syndrome, if presenting in infancy, is associated with signs of heart failure and pulmonary hypertension. The typical pathological features are sequestration of a segment of the lung, usually the right lower lobe, with arterial supply ...
Sreeram, Narayanswami +3 more
core
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani +7 more
wiley +1 more source
ABSTRACT Background Survivors of pediatric brain tumors (PBTs) can experience long‐term social difficulties, impacting quality of life. Beyond medical and environmental factors, family psychosocial risk may play a role in social outcomes by shaping the caregiving environment and may provide intervention options.
Renske H. Houben +4 more
wiley +1 more source
ABSTRACT Background Allogeneic hematopoietic stem cell transplantation (alloHSCT) is an essential therapy for several malignant and nonmalignant diseases, but relapse and graft loss remain the principal threats to its success. Routine monitoring of chimerism and minimal residual disease (MRD) enables early detection of imminent recurrence and guides ...
Carmen Junk +10 more
wiley +1 more source
Pediatric Idiopathic Multicentric Castleman Disease Is Often Severe But Responsive to Siltuximab
ABSTRACT Background Idiopathic multicentric Castleman disease (iMCD) is a potentially fatal immunologic disorder marked by widespread lymphadenopathy and inflammation. Siltuximab, an interleukin‐6 (IL‐6) inhibitor, is the only FDA‐approved treatment for adult patients with iMCD.
Bridget Austin +17 more
wiley +1 more source

