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Hyperosmolar Hyperglycemic State01:21

Hyperosmolar Hyperglycemic State

Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
Disorder of Water Balance01:29

Disorder of Water Balance

Water balance disorders are medical conditions that occur when there is a deviation from the body's water volume or osmolarity, disrupting normal homeostasis and leading todehydration, hypotonic hydration, hyperhydration, edema, or water intoxication.
Dehydration
Dehydration occurs when the body loses fluids (particularly water).
Causes:
The major causes of dehydration include excessive sweating, fever, vomiting, diarrhea, and diuresis.
Signs and Symptoms:
Symptoms primarily include intense...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...

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Updated: Jun 12, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Hay-Wells syndrome: a case report.

Dário Júnior de Freitas Rosa1, Ronaldo Figueiredo Machado, Marcelino Pereira Martins Neto

  • 1Universidade Federal de Juiz de Fora, MG, Brasil. dariojfr@hotmail.com <dariojfr@hotmail.com>

Anais Brasileiros De Dermatologia
|June 4, 2010
PubMed
Summary
This summary is machine-generated.

Hay-Wells syndrome, a rare ectodermal dysplasia, presents with congenital abnormalities. Early multidisciplinary care is crucial for managing this autosomal dominant disorder affecting skin, hair, teeth, nails, and sweat glands.

Related Experiment Videos

Last Updated: Jun 12, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Area of Science:

  • Genetics and rare diseases
  • Dermatology and congenital disorders
  • Pediatric medicine

Background:

  • Hay-Wells syndrome is a rare, autosomal dominant ectodermal dysplasia.
  • Characterized by congenital abnormalities affecting skin, hair, teeth, nails, and sweat glands.
  • First described in 1976, it exhibits variable expressivity.

Observation:

  • A case report of a 17-year-old male with Hay-Wells syndrome.
  • Presented at birth with ankyloblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate.
  • These are considered cardinal signs of the syndrome.

Findings:

  • The patient exhibited key clinical manifestations of Hay-Wells syndrome.
  • Confirmation of the syndrome based on the presence of cardinal signs.
  • Highlights the genetic basis and phenotypic variability of the disorder.

Implications:

  • Emphasizes the need for early diagnosis of Hay-Wells syndrome.
  • Underscores the importance of a multidisciplinary approach for patient management.
  • Suggests potential for improved patient outcomes with comprehensive follow-up.