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Genetic causes of polyhydramnios

Open Access Polyhydramnions Case Study

Amniocentesis is not routine for isolated polyhydramnios in the absence of key structural defects. But these two cases show that polyhydramnios can be caused by rare genetic conditions that benefit from early diagnosis and intervention.

Rescue therapies for seizure clusters

Open Access Epilepsy Review

Benzodiazepines are effective rescue therapies for seizure clusters in patients with epilepsy, but are underused. Intranasal sprays now offer more practical alternatives to rectal diazepam gel.

Overnight bracing prevents curve progression in adolescent scoliosis

Overnight bracing could be an alternative intervention in patients with moderate-grade adolescent idiopathic scoliosis who refuse full-time bracing.

Accelerating treatment of IL-1-mediated autoinflammatory diseases

Free for a limited time Autoinflammatory Diseases Review

Practical guidance on diagnosing and managing four systemic autoinflammatory diseases caused by increased IL-1 production – CAPS, TRAPS, MKD, and DIRA – based on recent European and American recommendations.

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Genetic causes of polyhydramnios

Open Access Polyhydramnions Case Study

Amniocentesis is not routine for isolated polyhydramnios in the absence of key structural defects. But these two cases show that polyhydramnios can be caused by rare genetic conditions that benefit from early diagnosis and intervention.

Coral reef aorta in an adolescent

Open Access Aortic Coarctation Case Study

Supra aortic obstruction is rarely seen in children. This young person presented with rock-hard, irregular, gritty plaques in the ascending aorta, diagnosed and successfully treated as "coral reef aorta". 

DVT: an unusual sign of pediatric scurvy

Open Access Metabolic Disease in Childhood Case Study

Signs of scurvy are non-specific and wide ranging, so vitamin C deficiency is often misdiagnosed. This is the first case of DVT caused by large pelvic subperiosteal hematomas in an autistic boy with severe dietary restriction.

Current Reviews

A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment

Gaucher Disease Review article

Gaucher disease (GD) is a rare lysosomal storage disease that is caused by mutations in the GBA gene. It is classified into three main phenotypes according to the patient’s clinical presentation. Of these, chronic neuronopathic GD (GD3) is …

A comprehensive guide to assess gut mycobiome and its role in pathogenesis and treatment of inflammatory bowel disease

Inflammatory bowel disease (IBD) is an immune mediated chronic inflammatory disorder of gastrointestinal tract, which has underlying multifactorial pathogenic determinants such as environmental factors, susceptibility genes, gut microbial …

Role of the Microbiome in the Diagnosis and Management of Gastroesophageal Cancers

Stomach and esophageal cancers are among the highest mortality from cancers worldwide, ranking third and sixth, respectively [ 1 ]. Esophageal cancer can develop as a result of uncontrolled gastroesophageal reflux disease (GERD). Approximately 7% …

The Path to Safety in Dental Anesthesia

Open Access Pedodontics Patient Safety in Anesthesia (SJ Brull and JR Renew, Section Editors)

The distinct specialties of dentistry and anesthesiology have been intertwined since the first successful public demonstration of ether anesthesia on October 16th, 1846, at the Massachusetts General Hospital by dentist William T.G. Morton.

eLearning | Interviews (Link opens in a new window)

This independent educational program aims to highlight advances in the diagnosis, treatment, and management of patients with hemophilia that have the potential to improve patients’ outcomes and quality of life.

Supported by:
  • Sanofi
Developed by: Springer Healthcare IME

News | Articles | Podcasts | Cases (Link opens in a new window)

Join Prof. Martin Savage and expert colleagues for this series of interviews exploring how to successfully implement precision medicine into the management of pediatric endocrine disorders.

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

Further Reading

Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency

Open Access Chronic Inflammatory Bowel Disease Original Article

Inflammatory bowel disease (IBD) occurring following allogeneic stem cell transplantation (aSCT) is a very rare condition. The underlying pathogenesis needs to be better defined. There is currently no systematic effort to exclude loss- or …

Oral Candida carriage and resistance against common antifungal agents in hematopoietic stem cell transplantation recipients

Open Access Fluconazole Research

Candida spp. occur commonly in the oral flora of healthy individuals, and their reported prevalence varies from 20 to 75% [ 1 , 2 ]. Significant geographic variation is evident among cases of candidemia in different parts of the world. In a review …

Psychosocial Evaluation of Adults with Primary Immunodeficiency

Open Access Primary Immunodeficiency Research

Primary immunodeficiency (PID) may manifest as recurrent, severe, atypical infections or autoimmunity, lymphoproliferation, or malignancies at diagnosis or during the course of the disease. There are many different types of PIDs, ranging from …

Initial lactate levels linked to oliguria in term neonates with perinatal asphyxia

Open Access Perinatal Asphyxia Original Article

Acute kidney injury (AKI) is associated with longer hospital stays and increased morbidity and mortality in critically ill adult, pediatric, and neonatal populations [ 1 , 2 ]. In neonates, urine output (UOP) criteria have been utilized as one of …

Related topics

Open Access Polyhydramnions Case Study

Genetic causes of polyhydramnios

Amniocentesis is not routine for isolated polyhydramnios in the absence of key structural defects. But these two cases show that polyhydramnios can be caused by rare genetic conditions that benefit from early diagnosis and intervention.

Read more
Free for a limited time Congenital Heart Anomaly Review

Echogenomics in heritable aortopathies

Recent guidelines stress the need to identify genotype and phenotypic features in children and adolescents with inherited aortopathies. Echocardiography can be used for early identification and appropriate management of young patients. 

Read more
Free for a limited time Congenital Heart Anomaly Review

Echogenomics in heritable aortopathies

Recent guidelines stress the need to identify genotype and phenotypic features in children and adolescents with inherited aortopathies. Echocardiography can be used for early identification and appropriate management of young patients. 

Read more
Free for a limited time Chronic Myeloid Leukemia Review

Special considerations for managing CML in children

When treating children with chronic myeloid leukemia it is important to be aware of the key differences between pediatric and adult manifestations, as well as the impact of therapies on growth and future fertility.

Read more
Open Access COVID-19 Review

Severe pediatric COVID-19

COVID-19 tends to be mild in children, but severe and critical cases have debilitating systemic impacts. What are the red flags for deterioration? And what part does the immune system play in pathogenesis?

Read more