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Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFThe dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Multidisciplinary Approaches and Molecular Diagnostics in New-Onset Refractory Status Epilepticus and Nontuberculous Mycobacterial CNS Infections in the ICU: A Case Report.
Cureus
December 2024
Medical Emergency Unit, Unidade Local de Saúde de São José, Lisbon, PRT.
The diagnosis and management of complex neurological conditions such as New-Onset Refractory Status Epilepticus (NORSE) and central nervous system (CNS) infections caused by non-tuberculous mycobacteria (NTM) pose substantial difficulties in intensive care units (ICUs). This article combines a case report and a literature review that explores the diagnostic dilemmas and therapeutic strategies for these critical conditions. We report the case of an 83-year-old female with chronic granulomatous meningitis secondary to NTM, presenting a challenging diagnostic and complex management complexity typical of such a rare disease through a period time of five years.
View Article and Find Full Text PDFProfiles of systemic lupus erythematosus patients with co-existing sickle cell disease: a coincidence or true association?
Reumatologia
December 2024
Department of Medicine, Lagos State University Teaching Hospital, Ikeja, Nigeria.
Introduction: Systemic lupus erythematosus (SLE) and sickle cell disease (SCD) are distinct multisystemic diseases that commonly affect blacks. There are few reports of their co-existence in Western literature and a paucity of reports in Sub-Saharan Africa. Their co-existence is associated with diagnostic delay and treatment dilemmas.
View Article and Find Full Text PDFThe diagnostic conundrum of late-onset developmental regression in child psychiatry: case series.
BJPsych Open
January 2025
Department of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India.
Background: Developmental regression in children, in the absence of neurological damage or trauma, presents a significant diagnostic challenge. The complexity is further compounded when it is associated with psychotic symptoms.
Method: We discuss a case series of ten children aged 6-10 years, with neurotypical development, presenting with late-onset developmental regression (>6 years of age), their clinical course and outcome at 1 year.
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