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Monday, February 15, 2021

#Clinical_case_answer #11


#Clinical_case_answer #11

1⃣ Differential diagnosis:

1) Acute cholecystitis
2) Acute pancreatitis
3) Perforated viscus like Peptic ulcer disease
4) Acute intestinal obstruction
5) Mesenteric vascular occlusion
6) Cholangitis
7) Vasculitis
8) Pneumonia
9) DKA

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2⃣ Most likely etiology:

Choledocholithiasis (common bile duct stone)

3⃣ Next diagnostic step:

Right upper quadrant abdominal U.S

πŸ”΄ Discussion:

Abdomianl pain with heavy meals which is short lived is very consistent with biliary colic. The elevated amylase level confirms the clinical impression of acute pancreatitis. Then she probably has acute pancreatitits caused by a stone in the common bile duct. Abdominal pain is cardinal sign for acute pancreatitis specially in upper abdomen with radiation to the back. The pain is often relieved by sitting up and bending forward and is exacerbated by food.
When patients do develop symptoms because of a stone in the cystic duct or hartmann pouch, the biliary colic attack usually has a sudden onset, often precipitated by a large or fatty meal with severe steady pain in the RUQ or epigastrium lasting 1-4 hours. 
They may have mild elevation of alkaline phosphatase level and slight hyperbilirubinemia.
The first diagnostic step in a patient with suspected gallstone πŸ‘‰ Ultrasonogram

Acute cholecystitis πŸ‘‰ is a common complication of gall stones. This is apparent in U.S as gallblader thickening with persistent RUQ pain / fever / leukocytosis

Amylase or lipase three times or more than upper normal limit is highly diagnostic for pancreatitis

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4⃣ Management:

1) NPO

2) Check CBC diff, BUN, Cr, BS and lipid profile

3) Check VBG

4) ERCP

5) IV fluid crystalloid (N.S or R.L) 5-10mg/kg/hour

6) IV PPI (like pantoprazole 40mg q12h)

7) Fentanyl 20-50mcg q30-60min as needed or Pethidine

8) Antibiotic (in suspected infection)

9) Urine analysis

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✅ Final diagnosis:

#Acute_pancreatitis caused by choledocholithiasis

Sunday, February 14, 2021

If you are medicos then you must should get this 6 Essential Vaccines for Healthcare πŸ’‰πŸ§«


People who work in health care settings are frequently exposed to germs while being with or around patients. Vaccinating healthcare personnels (HCP)- helps protect them from potentially dangerous diseases like flu and whooping cough, as well as protects the patients they care for. 

However, all adults should make sure they are up-to-date on all routinely recommended vaccines. But if you're an HCP or work in a health care setting, there are six shots in particular that are recommended by the ACIP.

1. Influenza


The ACIP recommends that everyone over the age of six months receive the annual flu vaccine, especially HCP and other kinds of caregivers.

2. Hepatitis B


All HCP who have yet to be vaccinated against hepatitis B should receive the full three-dose series, and those who may come into contact with bodily fluids should be tested 1-2 months after the final dose to verify that their bodies responded well to the vaccine.

3. Measles, Mumps, and Rubella (MMR)


While rubella and mumps tend to be less serious than measles, unvaccinated HCP can still become infected after being exposed to patients. Unvaccinated women working in healthcare settings who could become pregnant should also receive at least one dose of the MMR to protect against rubella.

4. Tetanus, Diphtheria, and Pertussis (Tdap)


HCP working in pediatric settings appear to be most at risk for both contracting and spreading pertussis. HCP who are pregnant should also receive a Tdap during the third trimester of each pregnancy.

5. Varicella


Unvaccinated HCP with no laboratory evidence of immunity or documented proof of diagnosis with varicella should get two doses of the vaccine, spaced four weeks apart.

6. Meningococcal


It's not common for HCP to become infected with meningococcal disease from their patients, but it is possible, especially for those who have direct contact with either the respiratory secretions of an infected individual. HCP who frequently comes into direct contact with patients, or if you handle specimens in a lab, you should get one dose of the meningococcal vaccine.

Thursday, February 11, 2021

Chek The Answer #Clinical_case_answer #10


#Clinical_case_answer #10

1⃣ Differential diagnosis:

1) Diabetic ketoacidosis
2) Sepsis secondary to UTI
3) Meningoencephalitis
4) Abdominal infection
5) Drug overdose

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2⃣ Most approriate diagnosis:

The history suggests that patient has new onset diabetes mellitus. She has polyuria, polydipsia and weight loss for 1 months. Abdominal pain, altered  mental status and fruthy odor on breath are make the diagnose of DKA stronger

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3⃣ Initial management:

1) Cardiac monitoring and pulse oximetry

2) O2 supplement if SpO2<90%

3) CBC diff, BUN, Cr, Plasma gluscoe

4) Serum electrolytes

5) Arterial blood gas

6) Urine analysis, culture and ketones

7) ECG

8) Abdominopelvic CTscan

9) IV hydration with normal saline

πŸ”΄ Test results:

πŸ“Œ Biochemical profile:
Na πŸ‘‰ 130mEq/L
K πŸ‘‰ 5.5mEq/L
Cl πŸ‘‰ 100mEq/L
Bicaronate πŸ‘‰ 7.5 mEq/L
BUN πŸ‘‰ 65
Cr πŸ‘‰ 2.5
Glucose πŸ‘‰ 495mg/dl

πŸ“Œ CBC:
WBC πŸ‘‰ 15.9 with 90% neutrophil dominency

πŸ“Œ U/A
WBC πŸ‘‰ 60
leukocyte esterase πŸ‘‰ +
glucose πŸ‘‰ +
ketone πŸ‘‰ +
beta hCG πŸ‘‰ -

πŸ“Œ ABG
pH πŸ‘‰ 7.26
pCO2 πŸ‘‰ 16
pO2 πŸ‘‰ 128
HCO3 πŸ‘‰ 7.5

πŸ“Œ ECG πŸ‘‰ Sinus tachycardia
 
πŸ“Œ CTscan πŸ‘‰ negative

πŸ”΄ Assessment:

Labs shows a severe high AG metabolic acidosis with urine ketones supporting a diagnosis of ketoacidosis.
Hyperglycemia and glycosuria supporting a diagnosis of diabetes.

Given these findings along with a negative abdominopelvic CT, the other diagnoses on the differential become less likely.

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πŸ’  Further management:

1) ICU admission

2) Aggresive fluid resuscitaion with crystalloids (D.S if BS<250)

3) Insulin regular 0.1u/kg bolus then 0.1u/kg/hour infusion

4) Monitor gluose, VBG and electrolytes q2-4h

5) I/O monitoring

6) standard UTI antibiotics

7) check urine culture and blood ketones

8) HgbA1C

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✅ Final diagnosis:

#Diabetic_ketoacidosis

Tuesday, February 9, 2021

#Clinical_case_answer #9



#Clinical_case_answer  #9

1⃣ Differential diagnosis:

1) Areterial embolus
2) Arterial thrombosis
3) Gout
4) Compartment syndrome
5) Deep vein thrombosis

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πŸ”΄ Discussion:

The acute onset of pain associated with loss of pulse in lower extremity is charasteristic for Arterial embolism. AF predisposes the patient to Arterial embolism

πŸ“Œ Risk factors for arterial embolism πŸ‘‡

1) Post myocardial infarction
2) Atrial fibrillation
3) Endocarditis
4) Arterial trauma
5) Aortic dissection
6) Iatrogenic injury


2⃣ Initial management:

1) Check CBC, LDH, CPK

2) Comprehensive metabolic panel

3) PT, PTT, INR

4) Type and crossmatch

6) 12 lead ECG

7) Chest-X ray

♦️ Test results:

Blood work πŸ‘‰ unremarkable other than INR=1.4
CPK πŸ‘‰ normal
ECG πŸ‘‰ Atrial fibrillation
CXR πŸ‘‰ unremarkable

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3⃣ Further management:

1) Systemic heparinization:
Heparin 5000u IV stat then 10u/kg/hour infusion (drip)

2) Angiography

3) Emergent Surgical embolectomy in stablished diagnosis

4) Follow up πŸ‘‰ Systemic anticoagulation after recovery and beta blocker for rate control in AF setting (Cardiologist vist)

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✅ Final diagnosis:

#Arterial_embolism

πŸ‘‰ https://t.me/medicalbookcenter
πŸ‘‰ https://t.me/medicalbookcenter

Monday, February 8, 2021

You Should Must Know About πŸ’Š Drug Interactions and Side Effects Of Imipramine πŸ’Š



Imipramine oral tablet is used to treat symptoms of depression. It’s also used as a part of treatment for enuresis (bed-wetting) in children.

Drug Interactions:

Concomitant use of tricyclic antidepressants with drugs that can inhibit cytochrome P450 2D6 may require lower doses than usually prescribed for either the tricyclic antidepressant or the other drug. Furthermore, whenever one of these other drugs is withdrawn from co-therapy, an increased dose of tricyclic antidepressant may be required. It is desirable to monitor TCA plasma levels whenever a TCA is going to be coadministered with another drug known to be an inhibitor of P450 2D6.

 

The plasma concentration of imipramine may increase when the drug is given concomitantly with hepatic enzyme inhibitors (e.g., cimetidine, fluoxetine) and decrease by concomitant administration with hepatic enzyme inducers (e.g., barbiturates, phenytoin), and adjustment of the dosage of imipramine may therefore be necessary.

 

In occasional susceptible patients or in those receiving anticholinergic drugs (including antiparkinsonism agents) in addition, the atropine-like effects may become more pronounced (e.g., paralytic ileus). Close supervision and careful adjustment of dosage is required when imipramine hydrochloride is administered concomitantly with anticholinergic drugs.

 

Avoid the use of preparations, such as decongestants and local anesthetics, that contain any sympathomimetic amine (e.g., epinephrine, norepinephrine), since it has been reported that tricyclic antidepressants can potentiate the effects of catecholamines.

Side Effects:

  • Cardiovascular: Orthostatic hypotension, hypertension, tachycardia, palpitation, myocardial infarction, arrhythmias, heart block, ECG changes, precipitation of congestive heart failure, stroke.

 

  • Psychiatric: Confusional states (especially in the elderly) with hallucinations, disorientation, delusions; anxiety, restlessness, agitation; insomnia and nightmares; hypomania; exacerbation of psychosis.

 

  • Neurological: Numbness, tingling, paresthesias of extremities; incoordination, ataxia, tremors; peripheral neuropathy; extrapyramidal symptoms; seizures, alterations in EEG patterns; tinnitus.

 

  • Anticholinergic: Dry mouth, and, rarely, associated sublingual adenitis; blurred vision, disturbances of accommodation, mydriasis; constipation, paralytic ileus; urinary retention, delayed micturition, dilation of the urinary tract.

 

  • Allergic: Skin rash, petechiae, urticaria, itching, photosensitization; edema (general or of face and tongue); drug fever; cross-sensitivity with desipramine.

 

  • Hematologic: Bone marrow depression including agranulocytosis; eosinophilia; purpura; thrombocytopenia.

 

  • Gastrointestinal: Nausea and vomiting, anorexia, epigastric distress, diarrhea; peculiar taste, stomatitis, abdominal cramps, black tongue.

 

  • Endocrine: Gynecomastia in the male; breast enlargement and galactorrhea in the female; increased or decreased libido, impotence; testicular swelling; elevation or depression of blood sugar levels; inappropriate antidiuretic hormone (ADH) secretion syndrome.

 

  • Other: Jaundice (simulating obstructive); altered liver function; weight gain or loss; perspiration; flushing; urinary frequency; drowsiness, dizziness, weakness and fatigue; headache; parotid swelling; alopecia; proneness to falling.

 

  • Withdrawal Symptoms: Though not indicative of addiction, abrupt cessation of treatment after prolonged therapy may produce nausea, headache, and malaise.

 

Friday, February 5, 2021

πŸ’Š DID YOU KNOW ABOUT Dosing and Indications of Atorvastatin πŸ’Š


For the treatment of hypercholesterolemia, including hyperlipidemia, hyperlipoproteinemia, or hypertriglyceridemia, as an adjunct to dietary control, for the purpose of reducing the risk of cardiovascular events (e.g., myocardial infarction prophylaxis, stroke prophylaxis).

Oral dosage

Adults

Initially, 10 to 20 mg PO once daily. May start at 40 mg PO once daily in patients requiring greater than 45% LDL-reduction. The dosage range is 10 to 80 mg PO once daily (mean LDL reduction range: 43% to 60% LDL). The daily dose may be given at any time during the day and without regard to meals. After dosage initiation or titration, lipid concentrations should be analyzed within two to four weeks. In general, geriatric patients may have an increased cholesterol-lowering response to HMG-CoA reductase inhibitors. Coadministration of certain drugs with atorvastatin may need to be avoided or dosage adjustments may be necessary; review drug interactions.

 

Children and Adolescents 10 years and older (females should be at least 1 year post-menarche)

10 mg PO once daily initially, The dosage may be increased to 20 mg/day PO after four weeks or longer if necessary.[28729] In a randomized, placebo-controlled trial of pediatric patients with familial hypercholesterolemia or severe hyperlipidemia (n = 187), mean serum total cholesterol, LDL, and triglyceride concentrations were decreased by 32%, 40%, and 12%, respectively, after 26 weeks of treatment with atorvastatin.[54954] Coadministration of certain drugs with atorvastatin may need to be avoided or dosage adjustments may be necessary; review drug interactions.

 

Children 6 to 9 years

5 mg PO once daily increased to 10 mg PO once daily after four weeks if the goal LDL of less than 130 mg/dL was not reached was used in a small, short-term study of pediatric patients with heterozygous familial hypercholesterolemia. Patients were dosed based on Tanner Stage, with Tanner Stage 1 patients (n = 15, age 6 to 14 years) receiving an initial dose of 5 mg/day PO and Tanner Stage 2 patients (n = 24, age 9 to 17 years) receiving an initial dose of 10 mg/day PO. Mean serum total cholesterol, LDL, and triglyceride concentrations were decreased by 34%, 40.7%, and 6%, respectively, in the Tanner Stage 1 patients after eight weeks of treatment. Similar reductions were seen in the Tanner Stage 2 patients, with the exception of triglycerides, which decreased by 21%. Although pharmacologic therapy is not generally recommended for patients less than ten years of age or Tanner Stage 1, it may be considered in patients with severe primary hyperlipidemia or high level risk factors (e.g. diabetes, organ transplant, obesity, hypertension, chronic renal disease, strong family history of premature cardiovascular disease). Coadministration of certain drugs with atorvastatin may need to be avoided or dosage adjustments may be necessary; review drug interactions.

 

For slowing the progression of atherosclerosis† (e.g., carotid, coronary, femoral)

Oral dosage

Adults

80 mg PO once daily has been shown to reduce the progression of atherosclerosis in clinical trials.  Coadministration of certain drugs with atorvastatin may need to be avoided or dosage adjustments may be necessary; review drug interactions.

 

For cerebral vasospasm prophylaxis† after aneurysmal subarachnoid hemorrhage

Oral dosage

Adults

Dosage not established. 40 mg PO once daily for 21 days has been used, Coadministration of certain drugs with atorvastatin may need to be avoided or dosage adjustments may be necessary; review drug interactions.

 

For the treatment of chronic heart failure

Oral dosage

Adults

Dosage not established. 10 to 40 mg PO daily for 6 to 12 months has been studied. Limited data suggest atorvastatin may improve inflammatory markers and left ventricular ejection fraction, especially in patients with dilated cardiomyopathy. However, clinical practice guidelines for the treatment of heart failure in adults recommend statins only in patients with a recent or remote history of myocardial infarction or acute coronary syndrome to prevent symptomatic heart failure and cardiovascular events. Coadministration of certain drugs with atorvastatin may need to be avoided or dosage adjustments may be necessary; review drug interactions.

Sunday, January 31, 2021

What is Long COVID-19? Medical student should must know about it 😱


Long COVID is defined by the long term effects coronavirus imposes on people. as the symptoms experienced by the people and the effects the coronavirus has on various individuals for weeks or months beyond the initial illness. According to the National Institute for Health and Care Excellence (NICE), long COVID lasts for more than 12 weeks, although some other people consider symptoms that last more than eight weeks to be long COVID.

National Health Services (NHS) has listed down a series of long COVID symptoms that people must pay heed to.

  • Extreme tiredness (fatigue)
  • Shortness of breath
  • Chest pain or tightness
  • Problems with memory and concentration ("brain fog")
  • Difficulty sleeping (insomnia)
  • Heart palpitations
  • Dizziness
  • Pins and needles
  • Joint pain
  • Depression and anxiety
  • Tinnitus, earaches
  • Feeling sick, diarrhoea, stomach aches, loss of appetite
  • A high temperature, cough, headaches, sore throat, changes to sense of smell or taste
  • Rashes

According to a study published in The Lancet, more than 75% of the people who were hospitalized for COVID-19 still had at least one symptom 6 months after recovering. The research observed 1,733 people who had tested positive for COVID-19 in Wuhan, China, and tracked their recovery from June to September. The study claimed that about 76% of the volunteers experienced lingering symptoms of COVID-19 long after being cured of the illness.

Is long COVID contagious?

Long Covid is not contagious. Long Covid symptoms are caused by your body's response to the virus continuing beyond the initial illness.

Friday, January 22, 2021

πŸ’Š Amikacin: Dosage and Administration GuideπŸ’Š

Indications for Amikacin Inj:

Short-term treatment of serious susceptible infections, including septicemia, respiratory tract, bones and joints, CNS (eg, meningitis), skin and skin structure, intra-abdominal (eg, peritonitis), burns and postoperative infections, complicated and recurrent UTIs or uncomplicated UTIs not susceptible to other antibiotics.

Adult Dosage:

Given by IM inj; or IV infusion over 30–60 mins. 15mg/kg per day in 2–3 divided doses (7.5mg/kg every 12 hours or 5mg/kg every 8 hours); max 15mg/kg/day. Heavier wt. patients: max 1.5g/day. Usual duration: 7–10 days. Uncomplicated UTIs: 250mg twice daily. Renal impairment: adjust dose based on serum levels or reduce frequency; see literature.

Children Dosage:

Infants: given by IM inj; or IV infusion over 1–2 hours. Newborns: loading dose: 10mg/kg; then follow with 7.5mg/kg every 12 hours. All other children and older infants: give by IM inj; or IV infusion over 30–60 mins. 15mg/kg per day in 2–3 divided doses (7.5mg/kg every 12 hours or 5mg/kg every 8 hours); max 15mg/kg/day. Usual duration: 7–10 days. 

Amikacin Inj Warnings/Precautions:

Monitor for nephro- and neurotoxicity; avoid peak serum levels >35micrograms/mL and trough levels >10micrograms/mL. Discontinue or adjust dose if auditory, vestibular, or renal dysfunction develops; monitor serum levels periodically. Monitor BUN, CrCl, serum creatinine levels before, frequently during, and after therapy. Perform audiogram in high-risk patients. Maintain adequate hydration.

Prolonged use or excessive doses
Asthma
Muscular disorders (eg, myasthenia gravis, parkinsonism, or infant botulism)
Elderly
Premature or neonatal infants
Pregnancy (Cat.D);
Avoid use. Nursing mothers: not recommended.
 

Amikacin Inj Classification:

Aminoglycoside.

Amikacin Inj Interactions:

Avoid concomitant furosemide, ethacrynic acid. Diuretics may increase toxicity. Increased risk of neurotoxicity and/or nephrotoxicity with concurrent or sequential polymyxin B, colistin, amphotericin B, other nephrotoxic or neurotoxic drugs; avoid.
May potentiate neuromuscular blockade, respiratory paralysis with anesthetics, neuromuscular blockers. May be antagonized by concomitant penicillins, cephalosporins.
 

Adverse Reactions:

Nephrotoxicity (eg, azotemia, oliguria), ototoxicity, neurotoxicity, neuromuscular blockade (eg, muscular paralysis, apnea);
rare: rash, drug fever, headache, tremor, GI upset, paresthesia, eosinophilia, arthralgia, anemia, hypotension, hypomagnesium.
 

Wednesday, January 20, 2021

πŸ©ΊπŸ’— BASICS OF ECG & NORMAL ECG πŸ“‰ Deshpande sir youtube link for basic ecg given below (select the link and open in youtube)

youtube link 

https://youtu.be/SAgQ9-snNgs


This article discusses the rate, rhythm, cardiac axis, and normal waves & intervals in an ECG.

NORMAL WAVES IN ECG

P wave

  • It is a small upward deflection representing atrial depolarization.
  • It should be upright in leads I, II, aVF, and V2-V6 and inverted in aVR.
  • P wave is normally upright, biphasic, flat, or inverted in V1, occassionally in lead V2.

QRS complex

  • Q wave is a small downward deflection that follows P wave and represents depolarization of the interventricular septum.
  • R wave is an upward deflection that usually follows Q wave.
  • S wave is a small downward deflection that follows R wave and represents ventricular depolarization at the base of the heart.
  • QRS is positive in all leads except aVR.

T wave

  • It is an upward wave that follows the QRS complex.
  • It represents ventricular repolarization.
  • It is upright in all leads except aVR and V1.

U wave

  • It is a small wave that follows T wave in the same direction.
  • They are presumed to represent repolarization of the papillary muscles or Purkinje fibers.
  • It is best seen in lead V2 and V3.

NORMAL INTERVALS AND SEGMENTS IN ECG

PR interval

  • The time from the beginning of the P wave to the beginning of the QRS complex.
  • Normal range ~ 120–200 ms.

PR segment

  • From the end of the P wave to the beginning of the QRS complex.
  • It is isoelectric and acts as a baseline to evaluate depression or elevation of the ST segment.
  • Normal range ~ 50–120 ms.

QT interval

  • Measured from the beginning of the QRS complex to the end of the T wave in leads II and V5-V6.
  • It indicates the time taken for ventricular depolarization and repolarization.
  • It is inversely proportional to the heart rate.

QTc interval/Corrected QT interval

  • It estimates the QT interval at a heart rate of 60 bpm.
  • This correction allows comparing QT intervals over time at different heart rates and also improves detection of patients at risk of ventricular arrhythmia.
  • The most frequently used formula to estimate QTc interval is Bazett’s formula.
  • Bazett’s formula states QTc = QT / √RR where QTc = Corrected QT interval, QT = Uncorrected QT interval, and RR = RR interval.
  • The normal QTc interval is 390–450 ms in men and 390–460 ms in women.

ST segment

  • It is the distance from the end of the S wave to the beginning of the T wave.
  • It is usually isoelectric.
  • Normal range: ~ 80–120 ms.

J point

  • It is the point at which S wave joins the baseline.
  • It is important in the evaluation of ST segment deviation like ST elevation or depression.

TP segment

  • The portion between the end of T wave and the beginning of next P wave.
  • At normal heart rate, it is usually isoelectric and used as a baseline for determination of deviation of the ST segment.

Ventricular activation time

  • It is measured from the beginning of the Q wave to top of R wave.
  • It should be <30 ms in leads V1-V2 and <50 ms in leads V5-V6.

CALCULATION OF HEART RATES THROUGH ECG

The heart rate calculated through an ECG is typically the ventricular rate.

If atrial and ventricular rates differ, as in a third-degree block, we should measure both rates.

Regular rhythms:

  • 1500 divided by the number of small squares between two R waves.
  • 300 divided by the number of large squares between two R waves.

Irregular rhythms:

  • Count the number of QRS complexes that fit into 3 s and multiply this number by 20 to determine the number of beats per minute (bpm).

NORMAL SINUS RHYTHM

It refers to the rhythm that originates in the SA node.

ECG Findings:

  • P wave precedes every QRS complex.
  • Regular rhythm, but varies slightly during respiration
  • Rate: 60–100 bpm
  • The maximum amplitude of P waves is 2.5 mm in leads II and/or III.
  • The P wave is positive in leads I and II and biphasic in lead V1.

CARDIAC AXIS

  • It is the average direction of the spread of depolarization wave through the ventricles as observed from front.
  • The direction of axis can be derived easily from the QRS complexes in leads I, III, and aVF.
  • In adults, the normal QRS axis is considered to be within -30° and +90°.

ROTATION OF HEART

  • It is reflected in precordial leads.
  • The QRS complex is generally isoelectric in leads V3 and V4.
  • As a general rule, heart rotates towards hypertrophy and away from infarction.

Monday, December 28, 2020

Nance - Horan Syndrome: A Congenital Rare Disease



Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

 

Clinical description

The ocular problem consists of congenital cataract (100% of cases), bilateral, usually severe, dense and most often total, associated with microcornea (96%), or even microphthalmia. In 93% of the cases, it is responsible for severe visual impairment evidenced by nystagmus (93%), sometimes associated with strabismus (43%). Dental abnormalities, although easily overlooked, are nearly constant, involve permanent and deciduous teeth and are of high diagnostic value. The most frequent are diastema, supernumerary incisors or posterior teeth, which are often impacted, and shape abnormalities (the most typical being screwdriver-shaped teeth). Facial dysmorphism is frequent and characterized by a long face, prognathism, a large nose, with a high nasal bridge, and large often protruding ears. Intellectual impairment is observed in about 30% of cases with inter- and intrafamilial variability. It is usually mild or moderate (80%), without motor delay, but in 20% of cases it is severe/profound and associated with autistic features. In heterozygote females, clinical manifestations are identical to those of affected males but they are attenuated and often limited to infraclinical findings.

 

Etiology

Causative mutations have been identified in the NHS gene (localized to Xp22.2) and typically result in a truncated protein. The differential expression of two NHS isoforms, NHS-A and NHS-1A, and differences in the subcellular localization of these isoforms may partly explain the various clinical manifestations.

 

Diagnostic methods

Diagnosis is based on clinical findings as there is no biological marker. The recognition of dental abnormalities requires careful physical and radiological dental examination.

 

Differential diagnosis

Differential diagnosis includes: X-linked microphthalmia, Lenz syndrome, Oculo-facio-cardio-dental (OFCD) syndrome, and Oculo-cerebro-renal (Lowe) syndrome (see these terms).

 

Antenatal diagnosis

Molecular study may be performed for the purpose of genetic counseling and antenatal diagnosis.

 

Genetic counseling

NHS is a genetic condition with X-linked semi-dominant transmission and high penetrance in heterozygote females.

 

Management and treatment

Ocular abnormalities usually require surgery for cataract extraction although the results are poor. Complications (glaucoma, retinal detachment, etc) are treated medically or surgically depending on the type and severity. The ocular problem requires education appropriate for the degree of visual handicap and often necessitates education in a special school for the visually impaired. Dental anomalies may require orthodontic treatment. Intellectual impairment requires special education.