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Clinical Collections
Women’s Health Knowledge Hub Advances in Alzheimer’s

Navigating neuroimaging in Alzheimer disease care

PET imaging is playing an increasingly critical role in managing AD, but how can you effectively integrate it into clinical practice? Our expert-led program will empower you with practical strategies and real-world case studies.

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Pediatrics Pediatric Endocrinology and Diabetology

Pediatric Endocrinology and Diabetology

The threat of childhood obesity

Childhood obesity is a growing global health concern, but how should obesity be defined and measured in children, and how does it impact health in the short and long term?

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Editor's Choice

Complete androgen insensitivity syndrome in a twin girl

An 18-year-old girl who presented for primary amenorrhea treatment was found to have a 46, XY karyotype. CAIS was diagnosed and treated. Her twin brother had a 46, XY karyotype with male physical and ultrasound features.

How to approach PCOS in adolescents

Evidence-based recommendations for PCOS in adolescents – screening, diagnosis, and risk assessment, plus psychological features, management, and models of care and transition.

Delayed diagnosis of monogenic diabetes

Complete heterozygous deletion of HNF1B was incidentally discovered in a woman who was enrolled in a clinical trial for type 1 diabetes and received immunosuppressive treatment for 4 years when she was a child.

Menarche transition associated with increased MS disease activity

Multiple sclerosis in girls with pediatric onset tends to occur in the 2–3 years after menarche, and the risk for relapse is increased during and following menarche.

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Latest News

Menarche transition associated with increased MS disease activity

Eating disorder treatment discrepancies between people with and without diabetes

More education needed to avoid ketoacidosis among young diabetes tech users

Significant improvements in pediatric glycemic control

Lomitapide promising for pediatric homozygous familial hypercholesterolemia

Precocious puberty associated with hidradenitis suppurativa

Case Studies

Complete androgen insensitivity syndrome in a twin girl

An 18-year-old girl who presented for primary amenorrhea treatment was found to have a 46, XY karyotype. CAIS was diagnosed and treated. Her twin brother had a 46, XY karyotype with male physical and ultrasound features.

Delayed diagnosis of monogenic diabetes

Complete heterozygous deletion of HNF1B was incidentally discovered in a woman who was enrolled in a clinical trial for type 1 diabetes and received immunosuppressive treatment for 4 years when she was a child.

Do GNB1 gene variants have a role in obesity?

Two rare cases that expand the list of pathogenic GNB1 variants. GNB1 may have value as a candidate gene for severe early-onset obesity, hyperphagia, and neurodevelopmental delay or other metabolic and endocrine disorders.

Current Reviews

Sphingolipidoses: expanding the spectrum of α-synucleinopathies

  • Open Access
  • Sphingolipidosis
  • Neurology and Preclinical Neurological Studies - Review Article

Although α-synuclein pathology is typically associated with Lewy body diseases and multiple systems atrophy, increasing evidence indicates that it also occurs in a group of lysosomal storage disorders termed sphingolipidoses caused by the …

Current and Emerging Therapies for Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for breaking down substrates within cellular organelles (lysosomes) essential for the processing of …

Arimoclomol: First Approval

Arimoclomol (MIPLYFFA™), an oral small molecule that crosses the blood brain barrier and is thought to upregulate CLEAR (Coordinated Lysosomal Expression and Regulation) network genes and improve lysosomal function, is being developed by Zevra …

Cardiometabolic risk in children and adolescents with obesity: a position paper of the Italian Society for Pediatric Endocrinology and Diabetology

Despite the implementation of preventive measures to counteract the obesity epidemics, the prevalence of childhood obesity is still alarming all over the world. Childhood obesity is the most common risk factor for both cardiovascular and metabolic …

CME & eLearning

Videos | Case Scenarios | Infographics (Link opens in a new window)

1.0 AMA PRA Category 1 Credit(s)™

Refine the application of CGM technology in primary care to enhance the management of type 2 diabetes. Benefit from key updates and experiential learning using CGM devices, and practice your clinical decision-making skills.

Supported by:
  • Abbott
Developed by: Springer Healthcare IME

News | Expert Reviews | Cases (Link opens in a new window)

Treating children with hormone disorders is complex and requires tailored management. To help you provide the most effective care, we deliver resources covering adrenal, thyroid, pituitary, growth, and puberty disorders, obesity, and diabetes.

Supported by:
  • Merck Healthcare KGaA, Darmstadt, Germany
Developed by: Springer Healthcare IME

Further Reading

Sphingolipidoses: expanding the spectrum of α-synucleinopathies

  • Open Access
  • Sphingolipidosis
  • Neurology and Preclinical Neurological Studies - Review Article

Although α-synuclein pathology is typically associated with Lewy body diseases and multiple systems atrophy, increasing evidence indicates that it also occurs in a group of lysosomal storage disorders termed sphingolipidoses caused by the …

Serum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies

Neuromuscular disorders (NMDs) and mitochondriopathies include a wide range of rare diseases. Although heterogeneous in clinical presentation and pathophysiology, NMDs share muscular weakness as a predominant feature. While muscle weakness is by …

Cardiometabolic risk in children and adolescents with obesity: a position paper of the Italian Society for Pediatric Endocrinology and Diabetology

Despite the implementation of preventive measures to counteract the obesity epidemics, the prevalence of childhood obesity is still alarming all over the world. Childhood obesity is the most common risk factor for both cardiovascular and metabolic …

Analysis of affordability differences for rare diseases in China: a comparison across disease types and regions

Rare diseases are defined as diseases with a very low prevalence. The United States Orphan Drug Act defines a rare disease as one that affects a population of less than 200,000 [ 1 ], Europe defines a rare disease as one with a prevalence rate of …

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