Persius/hicric huggingface dataset:
Pyridoxamine 5-prime-phosphate oxidase deficiency
Synonyms and keywords: PNPO deficiency; PNPO-related neonatal epileptic encephalopathy; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxine-5'-phosphate oxidase deficiency

# Overview
Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition. It is a condition that involves seizures beginning soon after birth or, in some cases, before birth. 

# Pathophysiology

## Genetics
Pyridoxine 5' phosphate oxidase is an enzyme involved in conversion of dietary vitamin B6 to its active form  pyridoxal 5' phosphate(PLP).  This active form of vitamin B6 is useful in the metabolism of proteins and neurotransmitters of brain.  PNPO gene mutations result in a pyridoxine 5' phosphate oxidase enzyme that is unable to metabolize pyridoxine and pyridoxamine, leading to a deficiency of PLP.  This results in disturbances in neurotransmitters in thebrain and can cause seizures.  This disease is inherited in a autosomal recessive fashion.

# Epidemiology and Demographics
Pyridoxamine 5-prime-phosphate oxidase deficiency is a rare disease.  Only 14 cases have been reported so far.

# Natural History, Complications and Prognosis
Babies are born in distress and seizures can be noticed within few hours of birth.

## Complications
- Seizures
- Encephalopathy
- Developmental delay
- Neurological problems
- Learning disorder
- Coma
- Death

# Diagnosis

## History
A detailed antenatal history and family history for genetic diseases may be helpful in excluding other diagnosis.

## Physical Examination

### Appearance of the patients
Patient may be in distress.

### Eyes
- Staring gaze may be noticed.

### Heart
- Slow heart rate(Bradycardia) may be seen.

### Neurologic
- Seizures
- Confusion

## Laboratory Findings

### Electrolyte and Biomarker Studies
- Low levels of pyidoxal 5' phosphate.
- Increase in blood lactate levels may be seen.
- Decrease in blood glucose levels.
- Metabolic acidosis may be seen.

### Electroencephalogram
EEG findings are
- Inter ictal burst suppression
- Multifocal independent sharp waves
- Electrical status epilepticus in sleep

### Genetic Tests
A few genetic tests are available
- Genetic analysis for PNPO gene mutations.
- Sequence analysis for entire codon region.

# Treatment

## Medical Therapy
- Unresponsive to anticonvulsant therapy.
- May respond to pyridoxal phosphate administration.
- Care about airway, breathing and circulation has to be taken care as child has tendency for seizures.
- Monitoring of blood glucose is required as the encephalopathy may worsen with hypoglycemia.
Rifampin isoniazid pyrazinamide contraindications

# Contraindications
RIFATER is contraindicated in patients with a history of hypersensitivity to rifampin, isoniazid, pyrazinamide or any of the components, or to any of the rifamycins.

## Rifampin
Rifampin is contraindicated in patients who are also receiving ritonavir-boosted saquinavir due to an increased risk of severe hepatocellular toxicity. (See Precautions, Drug Interactions.)
Rifampin is contraindicated in patients who are also receiving atazanavir, darunavir, fosamprenavir, saquinavir, or tipranavir due to the potential of rifampin to substantially decrease plasma concentrations of these antiviral drugs, which may result in loss of antiviral efficacy and/or development of viral resistance.

## Isoniazid
Other contraindications include patients with severe hepatic damage; severe adverse reactions to isoniazid, such as drug fever, chills, and arthritis; patients with acute liver disease of any etiology; and patients with acute gout.
Signal enhancement by extravascular water protons

# Overview
Signal Enhancement by Extravascular water Protons, or SEEP, is a contrast mechanism for functional magnetic resonance imaging (fMRI), which is an alternative to the more commonly employed BOLD (blood-oxygen-level dependent) contrast.  This mechanism for image contrast changes corresponding to changes in neuronal activity was first proposed by Dr. Patrick Stroman in 2001 (1, 2).  SEEP contrast is based on changes in tissue water content which arise from the increased production of extracellular fluid (3, 4) and swelling of  neurons and  glial cells at sites of neuronal activity (5, 6).  Because the dominant sources of  MRI signal in biological tissues are water and lipids, an increase in tissue water content is reflected by a local increase in  MR signal intensity.  A correspondence between BOLD and SEEP signal changes, and sites of activity, has been observed in the brain and appears to arise from the common dependence on changes in local blood flow to cause a change in blood oxygenation or to produce extracellular fluid (7, 8).   The advantage of SEEP contrast is that it can be detected with  MR imaging methods which are relatively insensitive to magnetic susceptibility differences between air, tissues, blood, and bone.  Such susceptibility differences can give rise to spatial image distortions and areas of low signal, and magnetic susceptibility changes in blood give rise to the BOLD contrast for fMRI.  The primary application of SEEP to date has been fMRI of the spinal cord (spinal fMRI) because the bone/tissue interfaces around the spinal cord cause poor image quality with conventional fMRI methods.  The disadvantages of SEEP compared to BOLD  contrast are that it reveals more localized areas of activity, and in the brain the signal intensity changes are typically lower, and it can therefore be more difficult to detect (7-10).
It is also controversial because it is not universally agreed to exist as a contrast mechanism for fMRI.
However, more recent studies have demonstrated changes in MRI signal corresponding with changes in neuronal activity in rat cortical tissue slices, in the absence of blood flow or changes in oxygenation, and neuronal activity and cellular swelling were corroborated by light-transmittance microscopy.
This demonstrated SEEP contrast in the absence of confounding factors which can occur in-vivo, such as physiological motion and the possibility of concurrent BOLD contrast.
Sinusoidal obstruction diagnostic study of choice

# Overview
The two established criteria for the clinical diagnosis of sinusoidal obstruction syndrome are Baltimore criteria and modified Seattle criteria. The most accurate method to confirm the diagnosis and evaluate the severity of sinusoidal obstruction syndrome is the measurement of the hepatic venous gradient pressure (HVGP).

# Diagnostic Criteria
The diagnosis of sinusoidal obstruction syndrome should be considered in any patient who has undergone hematopoietic cell transplant and develops liver dysfunction.
- The two established criteria for the clinical diagnosis of sinusoidal obstruction syndrome are:

# Diagnostic study of choice

## Portal hepatic venous gradient
- The most accurate method to confirm the diagnosis and evaluate the severity of sinusoidal obstruction syndrome (SOS) is the measurement of the hepatic venous gradient pressure (HVGP) through the jugular vein.
- The portal-hepatic venous pressure gradient is defined as the difference between the wedged and free hepatic venous pressure, it can be measured at the time of transjugular liver biopsy.
- A hepatic venous gradient pressure (HVGP) 10 mmHg in a patient without previous liver disease is seen almost exclusively in sinusoidal obstruction syndrome (SOS).
Sudden infant death syndrome history and symptoms

# Overview
The majority of patients with sudden infant death syndrome (SIDS) are asymptomatic. SIDS condition happens sudden and fast so the infants does not show much of the symptoms. Sudden infant death syndrome is mostly referred to the all unexpected infant deaths.

# History and Symptoms
- The majority of patients with sudden infant death syndrome (SIDS) are asymptomatic.

## History
Patients with sudden infant death syndrome (SIDS) may have a positive history of:
- Infant who might be put in prone position sleep right after feeding
- Unremarkable checks of the baby during sleep but the infant might be found dead
- Some parents says that their babies were not themselves in the hours before death
- Some parents says that the infant may have had diarrhea, vomiting, and fatigue 2 weeks prior to death of the baby
- History of apnea may be present in some infants
- History of swallowing dysfunction may be present in some infants
- A thorough evaluation of child abuse should be considered
- Brain stem anomalies may be detected in some patients
- Genetic mutations
- Cardiac ion channel defects
The following questions should be asked to the parents regarding the child by the physician which includes the following:
- Any trauma to the infant ?
- Any foreign body ingestion by the infant ?
- Any history of apnea? If yes then ask about the time length of apnea in seconds ?
- Incidents that might have happened before the BRUE (Brief Resolved Unexplained Events)
- Any signs of paroxysmal cough ?
- Any signs or symptoms of the upper respiratory tract infection ?
- Any symptoms of gastroesophageal reflux (GER) after the feeding the child ?
- Time and amount of the last meal of the infant ?
- What was the childs position when the parents put the child to sleep?
- Any change in the colour of the infant ? If yes ask the parent which colour ? if the parent says blue colour then ask how blue?
- Ask parents if there is any event ? if yes ask them duration of the event ?
- Ask parents about the body tone of the infant ? like is the baby stiff, or shaking ?
- Ask the parents if they have done any CPR after the incident ? if yes ask them how was it done?

## Common Symptoms
Common symptoms of  sudden infant death syndrome (SIDS) include:
- Brief Resolved Unexplained Events (BRUEs: formerly Apparent Life-Threatening Events) which includes the following:
Cyanosis in 50-60% of the patients
Breathing difficulties in 50% of the patients
Abnormal limb movements in 35% of the patients
- Cyanosis in 50-60% of the patients
- Breathing difficulties in 50% of the patients
- Abnormal limb movements in 35% of the patients

## Less Common Symptoms
Less common symptoms of sudden infant death syndrome (SIDS) prior to death include:
- Diarrhea
- Vomiting
- Listlessness
Sudden infant death syndrome physical examination

# Overview
Patients with sudden infant death syndrome (SIDS) usually appear normal. In nearly 50% of the patients the physical examination is totally normal. WHile doing a physical examination on sudden infant death syndrome (SIDS) patients physicians must take care to examine any signs of obstruction of the external airways, head entrapment, or any other environmental risk factors.

# Physical Examination
Physical examination in 50% of  the patients with sudden infant death syndrome (SIDS) is usually completely normal.

## Appearance of the Patient
- Patients with sudden infant death syndrome (SIDS) usually appear normal.

## Vital Signs
- High-grade or low-grade fever may be present in 25% of the patients with SIDS
- Infection may be present in 25% of the patients with SIDS
- Look for any signs of choking or gasping of the infant

## Skin
Apparent life-threatening events (ALTEs) are usally episodes of apnea that are associated with skin colour changes, which include the following:
- Cyanosis in 50-60% of the patients may be present.
- Pallor
- Erythema

## HEENT
- Feeding difficulties may be present in some patients
- Evidence of trauma

## Neck
- Neck examination of patients with sudden infant death syndrome (SIDS) is usually normal.
- Check for any signs of obstruction

## Lungs
- Breathing difficulties in 50% of the patients may be present
- Any signs of respiratory infections should be evaluated
- Physicians must take care to examine any signs of obstruction of the external airway

## Heart
- Cardiovascular examination of patients with SIDS may or may not be present with the following and should be evaluated:
Any signs of valvular disease
Arrhythmias
Cardiomyopathy signs
- Any signs of valvular disease
- Arrhythmias
- Cardiomyopathy signs

## Abdomen
- Abdominal examination of patients with sudden infant death syndrome (SIDS) is usually normal.

## Back
- Back examination of patients with sudden infant death syndrome (SIDS) is usually normal.

## Genitourinary
- Genitourinary examination of patients with sudden infant death syndrome (SIDS) is usually normal.

## Neuromuscular
- Abnormal limb movements in 35% of the patients in SIDS may be noted
- Should look for any changes in muscle tone
- Seizures

## Extremities
- Cyanosis may be present in some infants with SIDS
- Muscle tone either increased or decreased in some infants with SIDS
Superior cervical cardiac branches of vagus nerve
The Superior Cardiac Branches (cervical cardiac branches), two or three in number, arise from the vagus, at the upper and lower parts of the neck.
- The upper branches are small, and communicate with the cardiac branches of the sympathetic. They can be traced to the deep part of the cardiac plexus.
- The lower branch arises at the root of the neck, just above the first rib. That from the right vagus passes in front or by the side of the innominate artery, and proceeds to the deep part of the cardiac plexus; that from the left runs down across the left side of the arch of the aorta, and joins the superficial part of the cardiac plexus.
Table of United States Combined Statistical Areas

# United States
The following sortable table lists the 123 Combined Statistical Areas (CSAs) of the United States of America.  The United States Census Bureau defines a Combined Statistical Area as an aggregate of adjacent Core Based Statistical Areas (CBSAs) that are linked by commuting ties.  The table includes the following information:
- The CSA rank among the 718 primary census statistical areas of the United States by population as of 2006-07-01, as estimated by the United States Census Bureau,
- The CSA name,
- The states, federal district, or territory  that are part of the CSA,
- The CSA population as of 2006-07-01, as estimated by the United States Census Bureau,
- The CSA population as of 2000-04-01, as counted by the United States Census 2000,
- The percent CSA population change from 2000-04-01, to 2006-07-01, as estimated by the United States Census Bureau,
- The Core Based Statistical Areas (CBSAs) that define the CSA.
Note:  For the complete list of all primary census statistical areas, please see the Table of United States primary census statistical areas.

# Puerto Rico
The following sortable table lists the three Combined Statistical Areas of the Commonwealth of Puerto Rico.
The heart in Grave's disease (overactive thyroid)

# Overview
Graves disease is the most frequent reason (approximately 60-90%) of thyrotoxicosis that results from thyroid hormone excess and 10 times more frequently occurs in women than in men.

# Symptoms
1. Palpitations due to;
- Sinus tachycardia (at rest, at sleep sleep, and during exercise) is the most frequently observed rhythm disturbances.
- Atrial arrhythmias (premature atrial contractions, atrial fibrillations, less frequently atrial tachycardia and atrial flutter may be seen
- Ventricular arrhythmias are rare
2. Exercise intolerance
3. Dyspnea on exertion
4. Chest pain
5. Pretibial edema
6. Dilated cardiomyopathy: Cardiomyopathy may be reversible  or resistant  to treatment.
7. Congestive heart failure (especially in elderly patients)

# Diagnosis

## Electrocardiography

## Echocardiography

# Treatment
Patients with atrial fibrillation should monitored and properly anticoagulated to prevent embolic complications and stroke.

# Prognosis
Transverse rectus abdominis musculocutaneous flap

# Overview
Transplantation of a transverse rectus abdominis myocutaneous (TRAM) flap is a commonly used surgical procedure for breast reconstruction following mastectomy. An autologous myocutaneous flap consisting of abdominal skin, subcutaneous fat, the rectus abdominis muscle, and adjoining vasculature is used for reconstruction of the breast following mastectomy.  The rectus abdominis muscle has a dual blood supply, which includes the superior and inferior epigastric vessels. The blood supply via the superior epigastric artery is less robust than its inferior counterpart.

# Imaging Findings

## CT
- The shape of the TRAM flap is the same as that of the native breast. However, fat attenuation is predominant in the TRAM flap at CT, as opposed to the irregular soft-tissue attenuation of fibroglandular tissue mixed with fat seen in the native breast.
- 3 general appearances:
- Homogeneous fat attenuation
Fat attenuation with a thin, curvilinear soft-tissue band parallel to the skin surface
Thick soft-tissue band parallel to the skin surface
- Homogeneous fat attenuation
- Fat attenuation with a thin, curvilinear soft-tissue band parallel to the skin surface
- Thick soft-tissue band parallel to the skin surface
- The thin, curvilinear soft-tissue band seen within the reconstructed breast represents the de-epithelialized skin from the abdominal wall.
- The fat-attenuation tissue superficial to this band represents adipose tissue of the native chest wall.
- The fat-attenuation tissue deep to the band represents the adipose tissue transposed from the abdominal wall.
Breast cancer status post left mastectomy and TRAM flap reconstruction

## MRI
- Same as CT.
- Replacement of the normal glandular tissue of the breast with lower abdominal fat and the presence of atrophied rectus abdominis muscle along the anterior chest wall.
- A thin curvilinear line that parallels the breast contour is often recognized and represents the epithelial layer of the lower abdominal tissue.
- The fatty signal intensity anterior to the epithelial layer represents the native chest wall, whereas that deep to it represents abdominal wall fat.
Valproic acid capsule delayed release description

# Description
Valproic acid is a carboxylic acid designated as 2propylpentanoic acid. It is also known as dipropylacetic acid. Valproic acid (pKa 4.8) has a molecular weight of 144 and occurs as a colorless liquid with a characteristic odor. It is slightly soluble in water (1.3 mg/ml) and very soluble in organic solvents. Valproic acid has the following structure
Stavzor (valproic acid) delayed release capsules are for oral administration and are provided as orange-colored, oval-shaped capsules in 3 dosage strengths: 125 mg, 250 mg, 500 mg of valproic acid.

### Inactive Ingredients
Stavzor (valproic acid) delayed release capsules also contain ammonia hydroxide, gelatin, glycerin, methacrylic acid copolymer, triethyl citrate, water and FD&C Yellow No. 6 as the colorant. Each capsule is printed with a Opacode WB as the black printing ink.
Wolff-Parkinson-White syndrome diagnosis overview

# Overview
The diagnose of WPW pattern is commonly made by an incidental ECG finding in an asymptomatic individuals. The characteristic EKG finding is a delta wave, which represents the pre-excitation of the ventricles through the accessory pathway. This phenomenon presents because the AV node has the property of slowing the impulses, therefore the conduction through the accessory pathway is faster, therefore the ventricles are excited through two different pathways. The delta wave is an upstroke in the R wave of the QRS complex that is associated with a short PR interval. Delta waves are only present when the patient is in sinus rhythm, whentachycardia starts the delta wave is no longer present. Patients WPW syndrome with episodes of atrial fibrillation will present ECG  with rapid irregular wide-complex tachycardia.  The combination of atrial fibrillation and WPW may increase the risk of very rapid antidromic AVRT and occurrence of ventricular fibrillation. AV node blocking agents are contraindicated in these patients because it will enhance the conduction through the accessory pathway. Patients with WPW may exhibit more than one accessory pathway which is common in patients with Ebstein's anomaly.

# Wolff-Parkinson-White syndrome diagnosis
- The diagnose of WPW pattern is commonly made by an incidental ECG finding in an asymptomatic individuals.
- The characteristic EKG finding is a delta wave, which represents the pre-excitation of the ventricles through the accessory pathway
- This phenomenon presents because the AV node has the property of slowing the impulses, therefore the the conduction throuhg the accessory pathway is faster, therefore the ventricles are excited through two different pathways.
- The delta wave is an upstroke in the R wave of the QRS complex that is associated with a short PR interval.
- Delta waves are only present when the patient is in sinus rhythm, whentachycardia starts the delta wave is no longer present.
- Patients WPW syndrome with episodes of atrial fibrillation will present ECG  with rapid irregular wide-complex tachycardia.
- The combination of atrial fibrillation and WPW may increase the risk of very rapid antidromic AVRT and occurrence of ventricular fibrillation.
- AV node blocking agents are contraindicated in these patients because it will enhance the conduction through the accessory pathway.
- Patients with WPW may exhibit more than one accessory pathway which is common in patientds with Ebstein's anomaly.
- The most common combination of accessory pathways in Ebstein anomaly was the right posteroseptal and right free wall pathway.
- Wolff-Parkinson-White syndrome is sometimes associated with Leber's hereditary optic neuropathy (LHON), a form of mitochondrial disease.
- One beat from a rhythm strip in V2 demonstrating characteristic findings in WPW syndrome. Note the characteristic delta wave (subtler here than in some cases), the short PR interval of 0.08 seconds, and the long QRS complex at 0.12 seconds.
2013 ACCF/AHA Guideline The Hospitalized Patient

# Classification of Acute Decompensated HF

# 2013 ACCF/AHA Guideline/2009 ACC/AHA Focused Update and 2005 Guideline for the Diagnosis and Management of Heart Failure in the Adult (DO NOT EDIT) 

## Hospitalized Patients Presenting With Heart Failure (DO NOT EDIT) 

# Vote on and Suggest Revisions to the Current Guidelines
- The CHF Living Guidelines: Vote on current recommendations and suggest revisions to the guidelines