Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of single gene disorders with distinguished clinical phenotypes and definitive imaging findings. Beta propeller protein-associated neurodegeneration (BPAN) is a subentity of NBIA with X linked dominant inheritance. In this report, we describe a girl with autistic regression, seizures, intracranial calcification, iron accumulation in substantia nigra, and globi pallidi, and diagnosis of BPAN was established based on the identification of previously described disease causing variant in WD repeat domain 45 (WDR45) gene encoding for β propeller protein.

Cushing's syndrome presenting as treatment-resistant bipolar affective disorder: A step in understanding endocrine etiology of mood disorders.

Cushing's syndrome (CS) is the multisystem disorder which is due to cortisol excess. It is very difficult to diagnose in early stages, especially when psychiatric manifestations are the predominant complaints. It could result in significant morbidity and mortality.

The diagnostic accuracy and validity of the teen screen questionnaire-mental health for clinical and epidemiological studies in primary-care settings.

Background: To validate a brief, self-reported, Teen Symptom Questionnaire-Mental Health (TSQ-M), for identifying adolescents with mental ill-health, designed for conducting epidemiological studies and clinical work in primary-care settings.

Materials And Methods: In this prospective, cross-sectional study of 146 adolescents, re-cruited six rural and urban schools, the newly developed TSQ-M as the measure for validation and General Health Questionnaire-12 item (GHQ-12) as the gold standard measure were administered by independent trained raters. Tests for diagnostic accuracy and validity were conducted.