Severe combined immunodeficiency diagnosis and genetic defects.

Severe combined immunodeficiency (SCID) is a rare and life-threatening genetic disorder that severely impairs the immune system's ability to defend the body against infections. Often referred to as the "bubble boy" disease, SCID gained widespread recognition due to the case of David Vetter, a young boy who lived in a sterile plastic bubble to protect him from germs. SCID is typically present at birth, and it results from genetic mutations that affect the development and function of immune cells, particularly T cells and B cells.

The Clinical Utility of Food Addiction: Characteristics and Psychosocial Impairments in a Treatment-Seeking Sample.

Little is known about the characteristics of individuals seeking treatment for food addiction (FA), and the clinical utility of FA has yet to be established. To address these gaps, we examined (i) the demographic, eating pathology, and psychiatric conditions associated with FA and (ii) whether FA is associated with psychosocial impairments when accounting for eating-related and other psychopathology. Forty-six patients seeking treatment for FA completed self-report questionnaires and semi-structured clinical interviews.

Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.

Almost 70 years after establishing the concept of primary immunodeficiency disorders (PIDs), more than 320 monogenic inborn errors of immunity have been identified thanks to the remarkable contribution of high-throughput genetic screening in the last decade. Approximately 40 of these PIDs present with autoimmune or auto-inflammatory symptoms as the primary clinical manifestation instead of infections. These PIDs are now recognized as diseases of immune dysregulation.

Group therapy for excoriation disorder: Psychodrama versus support therapy.

Background: Excoriation disorder (ED) is characterized by recurring excoriation of the skin resulting in tissue damage, usually associated with emotional deregulation. Psychotherapy is a valuable treatment; however, no studies emphasize the patients' interactional aspect, nor the potential benefit of group treatment.

Methods: We recruited a convenience sample of 38 individuals with ED according to DSM-5 criteria, in which 19 individuals proceeded to treatment, 10 with psychodrama group therapy (PGT), and 9 with support group therapy (SGT) in an open pilot study.

"There is no way to avoid the first bite": A qualitative investigation of addictive-like eating in treatment-seeking Brazilian women and men.

There has been polarizing debate on addictive-like eating in recent years. To move toward valid definition and measurement of this construct, qualitative research describing individuals' experiences is needed. The present study explored how Brazilian men and women define and experience addictive-like eating.

NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.

Objective: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil.

Methods: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR.