Medicine beyond words

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It is a chromosomal condition that affects male physical and cognitive development. It occurs when a male is born with an extra X chromosome (XXY).

Clinical Features

Small testes that do not produce as much testosterone as usual.

Breast enlargement (gynecomastia)

Reduced facial and body hair

Infertility

May have learning disabilities and delayed speech and language development. 

Diagnosis

It is not often made until a man is evaluated for inability to concieve.

Low serum testosterone

Karyotype 47 XXY

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Also known as Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of development of the vasculature, caused by a mutation in several genes, including ACVRL1, ENG, SMAD4, and GDF2.

Clinical Features

Epistaxis and telangiectases of the lips, tongue and skin occur in 80-99% of patients.

Arteriovenous malformations (AVMs) in the brain, lungs, liver, GI tract.

Diagnosis

Require the presence of 3 of the following 4:

Recurrent epistaxis

Visceral AVMs (seen on MR or CT arteriography)

Mucocutaneous Telangiectases

Near relative of an affected individual

Mutation analysis can be used for presymptomatic diagnosis.

Treatment

Embolization of all treatable pulmonary AVMs

Anti-estrogenic agents (eg. tamoxifen)

Anti-vascular endothelial growth factor agents (eg. bevacizumab)

Decubitus ulcers (or pressure sores or bed sores) are preventable injuries to skin tissue. These pressure sore injuries open the body up to further infection and disease, often resulting in death or amputation. Pressure sores are broken down into 4 stages:

Stage1: Still intact, they are not open wounds. While the skin remains intact, there may be painful bruising underneath.

Stage2: Pressure wounds are open painful sores caused by unrelieved pressure. It can look like an abrasion, blister, or a shallow crater in the skin.

Stage3: Pressure sore burrows deeper. The bedsore is open but the muscle, tendon and bone are not visible at this stage of the sore. A patient’s fatty tissue surrounding the pressure sore may be exposed.

Stage4: Deepest most traumatic stage. There is deep damage to skin tissue in the affected area and often damage to the surrounding joints and tendons. 

Osteomyelitis, infection of the bone, or Sepsis, blood infection, are often complications of an open Stage 4 decubitus ulcer.

The main branches are:

Celiac trunk: mainly responsible for the blood supply to the stomach and spleen except the head

Superior mesenteric artery and inferior mesenteric artery that are responsible for the blood supply to the small and large intestines, head of the pancreas and upper part of the rectum

Gonad arteries (Testicular or ovarian)

Renal arteries, and common iliac artery. 

It is important to remember at which level every and each artery lies. 

Please note that the bifurcation of aorta occurs at L4, and the division of the common iliac artery is at the level of L5-S1. 

β-blocker, is a class of medications that are particularly used to manage cardiac arrhythmias, and to protect the heart from a second heart attack (myocardial infarction) after a first heart attack (secondary prevention). They are also widely used to treat hypertension, although they are no longer the first choice for initial treatment of most patients.

Adverse drug reactions: nausea, diarrhea, bronchospasm, dyspnea, bradycardia, hypotension, heart failure, heart block, sexual dysfunction, alteration of glucose and lipid metabolism, etc.

Alzheimer’s is a type of dementia that causes problems with memory, thinking and behavior. Symptoms usually develop slowly and get worse over time, becoming severe enough to interfere with daily tasks.

7 stages of the disease: (The stages don’t always fall into neat boxes, but they can be a guide and help you plan for your relative’s care.)

-Stage 1: Normal Outward Behavior Asymptomatic. Only a PET scan can reveal whether he’s got Alzheimer’s.

-Stage 2: Very Mild Changes At this stage, subtle symptoms of Alzheimer’s don’t interfere with daily tasks. This could include forgetting a word or misplacing objects.

-Stage 3: Mild Decline: It’s at this point that you start to notice changes in one’s thinking and reasoning, such as: Forgets something he just read Asks the same question over and over Has more and more trouble making plans or organizing Can’t remember names 

-Stage 4: Moderate Decline Problems in thinking and reasoning get more obvious, and new issues appear.  Forget details about himself Forget what month or season it is Have trouble cooking meals or even ordering from a menu

-Stage 5: Moderately Severe Decline The person might start to lose track of where he is and what time it is. Trouble remembering his address, phone number, or where he went to school. Confused about what kind of clothes to wear.

-Stage 6: Severe Decline He might recognize faces but forget names. He might also mistake a person for someone else, for instance, thinking his wife is his mother. Delusions might a set in. They might need help to go to the bathroom.

-Stage 7: Very Severe Decline Many basic abilities, such as eating, walking, and sitting up, fade during this period. Many people at this stage can no longer tell when they’re thirsty.

An otherwise healthy 33-year-old male presents with innumerable asymptomatic fleshy papules on the mucosal surface of his lips. A biopsy of one of the lesions demonstrates focal epithelial hyperplasia, consistent with Heck disease. 

What virus is associated with Heck disease? 

A. Coxsackievirus

B. Epstein-Barr virus (EBV)

C. Human papillomavirus (HPV)

D. Herpes simplex virus (HSV)

Answer: C.  Human papillomavirus (HPV)

Focal epithelial hyperplasia is an oral infection caused by HPV types 13 and 32. The papules are typically asymptomatic and recede with time, often over the course of a few months.

Source

DRSABCD is a familiar acronym for those who have undertaken First Aid/Basic Life Support courses. Now DRSABCDE can used as a simple, yet comprehensive, approach to CXR interpretation.

Normal CXR 

D – Details: 

Patient name, age / DOB, sex

Type of film – PA or AP, erect or supine, correct L/R marker, inspiratory/expiratory series

Date and time of study

R – RIPE (assessing the image quality)

Rotation – medial clavicle ends equidistant from spinous process

Inspiration – 5-6 anterior ribs in MCL or 8-10 posterior ribs above diaphragm, poor inspiration?, hyperexpanded?

Picture – straight vs oblique, entire lung fields, scapulae outside lung fields, angulation (ie ’tilt’ in vertical plane)

Exposure (Penetration) – IV disc spaces, spinous processes to ~T4, L) hemidiaphragm visible through cardiac shadow.

S – Soft tissues and bones (it is common to leave it until the end)

Ribs, sternum, spine, clavicles – symmetry, fractures, dislocations, lytic lesions, density

Soft tissues – looking for symmetry, swelling, loss of tissue planes, subcutaneous air, masses

Breast shadows

Calcification – great vessels, carotids

A – Airway & mediastinum

Trachea – central or slightly to right lung as crosses aortic arch

Paratracheal/mediastinal masses or adenopathy

Carina & RMB/LMB

Mediastinal width <8cm on PA film

Aortic knob

Hilum – T6-7 IV disc level, left hilum is usually higher (2cm) and squarer than the V-shaped right hilum.

Check vessels, calcification.

B – Breathing

Lung fields

Pleura: reflections, thickenning

Vascularity – to ~2cm of pleural surface (~3cm in apices), vessels in bases > apices

Pneumothorax – don’t forget apices

Lung field outlines – abnormal opacity/lucency, atelectasis, collapse, consolidation, bullae

Horizontal fissure on Right Lung

Pulmonary infiltrates – interstitial vs alveolar pattern

Coin lesions

Cavitary lesions

C – Circulation

Heart position –⅔ to left, ⅓ to right

Heart size – measure cardiothoracic ratio on PA film (normal <0.5)

Heart borders – R) border is R) atrium, L) border is L) ventricle & atrium

Heart shape

Aortic stripe

D – Diaphragm

Hemidiaphragm levels – Right Lung higher than Left Lung (~2.5cm / 1 intercostal space)

Diaphragm shape/contour

Cardiophrenic and costophrenic angles – clear and sharp

Gastric bubble / colonic air

Subdiaphragmatic air (pneumoperitoneum)

E – Extras

CVP line, NG tube, PA catheters, ECG electrodes, etc

It’s a genetic neurological disease, characterized by episodes often called Migraine attacks. They are quite different from regular headaches. Migraine sufferers may have moderate or severe pain and usually can’t participate in normal activities because of the pain.

They last for at least 4 hours or may last for days.

The most common symptoms are:

Throbbing, pulsating pain – 85%

Light sensitivity - 80%

Sound sensitivity – 76%

Nausea – 73%

Pain on one side – 59%

Vision changes, blurred vision – 44%

Aura – 36%

Vomiting – 29%