Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome) is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction. Signs and symptoms
Genetics
This syndrome is caused by pathogenic variants (mutations) in the VPS13B gene at chromosomal locus 8q22. It has an autosomal recessive transmission with variable expression. Variants in VSP13B also cause Mirhosseini–Holmes–Walton syndrome, which is now considered to be the same entity as Cohen syndrome

Diagnosis
Cohen syndrome is diagnosed by clinical examination but is often difficult due to variation in expression. Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.General appearance is obesity with thin/elongated arms and legs. micrognathia, short philtrum and high vaulted palate are common. Variable intellectual disability with occasional seizure and deafness also is characteristic of Cohen syndrome. Management
Some of the symptoms of Cohen syndrome can be addressed through early intervention with medical specialists. Those who have this disease may benefit from early exposure to speech, physical, and occupational therapy to correct symptoms such as joint overflexibility, developmental delays, hypotonia, and motor clumsiness. Diagnosis may potentially be delayed due to the lack of a definitive molecular test as well as the clinical variability of published case reports.Glasses are beneficial to those who have severe nearsightedness, whereas individuals with retinal degeneration need training for the visually impaired, which is usually more beneficial when this is addressed at a young age.
Equipment
Much equipment is required for a facility to perform the numerous possible procedures for cardiac catheterization. General:
Catheters
Film or Digital Camera
Electrocardiography monitors
External defibrillator
Fluoroscopy
Pressure transducers
SheathsPercutaneous coronary intervention:
Coronary stents: bare-metal stent (BMS) and drug-eluting stent (DES)
Angioplasty balloons
Atherectomy lasers and rotational devices
Left atrial appendage occlusion devicesElectrophysiology:
Ablation catheters: radiofrequency (RF) and cryo
Pacemakers
Defibrillators

History
The history of cardiac catheterization dates back to Stephen Hales (1677-1761) and Claude Bernard (1813-1878), who both used it on animal models. Clinical application of cardiac catheterization begins with Dr. Werner Forssmann in 1929, who inserted a catheter into the vein of his own forearm, guided it fluoroscopically into his right atrium, and took an X-ray picture of it. However, even after this achievement, hospital administrators removed Forssmann from his position owing to his unorthodox methods. During World War II, André Frédéric Cournand, a physician at NewYork-Presbyterian/Columbia, then Columbia-Bellevue, opened the first catheterization lab. In 1956, Forssmann and Cournand were co-recipients of the Nobel Prize in Physiology or Medicine for the development of cardiac catheterization. Dr. Eugene A. Stead performed research in the 1940s, which paved the way for cardiac catheterization in the USA. References
External links
MedlinePlus Medical Encyclopedia: Cardiac catheterization
eMedicine: Cardiac Catheterization (Left Heart)