A new doctor at the Department of Paediatrics

and Inherited Metabolic Disorders gets acquainted with very rare syndromes. He

did not learn much about them in medical school, and because of their rarity,

they are mainly dealt with only by this department. These include rare

congenital disorders of glycosylation. These are diseases whose cause lies in

defects in the enzymes involved in the synthesis of the oligosaccharide chains

of glycoproteins. Glycoproteins are proteins that have oligosaccharide chains

covalently linked to a central protein chain. It is one of the

post-translational modifications of proteins. Most types of these diseases are

associated with neurological disorders, growth retardation, blood clotting

disorders, liver and gastrointestinal tract disease and typically manifest in

the neonatal or infant period. Where do these post-translational modifications

of proteins within the cell most commonly occur?

A 54-year-old man underwent gastroscopy

(endoscopy of the upper digestive tract) for non-specific digestive disorders.

The oesophagus and stomach appear macroscopically fine, but changes are only

visible in the duodenum, where several samples are therefore taken for

histological examination. The final diagnosis is peptic duodenitis,

inflammation of the duodenum, which is a precursor to the development of the

ulcer. This inflammation is usually caused by the

Colchicine is a

highly poisonous alkaloid, originally isolated from crocus. It is a very

effective mitotic poison that attacks the microtubules of the spindle

apparatus, thus disrupting the correct course of mitosis. Some drugs (such as

some chemotherapies) work by a similar mechanism by damaging the function or

structure of microtubules. Which particular process is so disrupted during

mitosis?

A 19-year-old student

comes to the eye clinic with a very common problem today. He suffers from

cutting and burning eyes, the feeling of a foreign body in the eye, pressure,

and the feeling of tired eyes. The eyes are red. He is diagnosed with dry eye

syndrome. This can have many causes, and one of them is low tear production,

for example, as a result of taking certain medications. Tears are produced by

the lacrimal gland. The lacrimal gland is an exocrine gland. Its cells have a

basophilic cytoplasm and a round nucleus located in the basal third of the

cell. The basal part of the cells shows significant basophilia due to the

accumulation of polyribosomes and granular endoplasmic reticulum for the

production of proteins that are part of the produced secretion. The cells

contain zymogen granules, which are mostly released in a merocrine manner. What

type of gland is a lacrimal gland?

A 4-year-old boy has recently returned from a holiday abroad and has now arrived now at the Clinic of Infectious Diseases with his parents due to severe

dehydration caused by diarrhoea. The causative bacterium is

The teacher wants to

demonstrate a typical serous gland to the students in practical exercises

focused on the glandular epithelium. However, he does not have much time to

think about it, because he has more tasks to complete. Which slide should he

choose to show the students typical serous acini?

A 17-year-old female patient has gradually developed symptoms such as fatigue, weakness, dyspnea on exertion and impaired

performance over several months. These symptoms gradually worsen over the last

year or so. She now comes for intense right hip pain. On further questioning,

she indicates frequent epistaxis (nosebleeds) and easy development of bruises.

During the physical examination, the physician notes striking pallor of the

skin and mucous membranes, tachycardia as well as hepatomegaly (enlargement of the

liver) and splenomegaly (enlargement of the spleen). Laboratory findings

confirm the presence of anemia and thrombocytopenia. A special finding is the

picture of the so-called Erlenmeyer flask deformity of the diaphyses of the

femurs. This sign is already suggestive to the physicians and the determination

of low activity of the enzyme β-glucocerebrosidase in isolated leukocytes

confirms the diagnosis of Gaucher disease. Gaucher disease is an inherited

lysosomal storage disease that is caused by a genetic defect in the lysosomal

enzyme glucocerebrosidase. This enzyme is responsible for the hydrolytic

cleavage of glucosylceramide to glucose and ceramide. What is the function of

lysosomes? What will their failure lead to in the cell?

A 7-week-old infant

is brought to the emergency department for severe hypothermia. Such a small

child does not have enough muscle mass to produce heat through muscle tremors,

and at the same time, his body has a large surface area causing easier heat

loss. Newborns and infants have a special way of producing heat through

non-shivering thermogenesis using brown adipose tissue. What does the basic

structure of this tissue look like?

A 16-year-old boy

fell and injured his knee during the school’s recent game. A physical

examination showed strong instability of the knee and an MRI examination

confirmed a rupture of the anterior cruciate ligament. What type of tissue is

the anterior cruciate ligament?