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Peutz-Jegher Syndrome PJS
- It's inherited in an Autosomal Dominant pattern
- Due to mutation in STK11 gene [ also known as LKB1 ] which is tumor suppressor gene.
→ its mutations disrupting its ability to restrain the cell division
- Characterestic by development of non-cutaneous growths called hamartomatous polyps in the
gastrointestinal tract particulary stomach and intestine
- The polyps have a great risk of develop cancer
features
childern with :-
* Small dark-colored spots on the lips, around and inside the mouth, near the eya, nostril and
around the anus. also may found on hands and feet and often fade as the person gets older
* Multiple polyps in the stomach and intestine during the childhood and adolescnce
* Polyps may cause recurrent bowel obstructions, chronic bleeding and abdominal pain
* The patient has the risk of developing types of cancers as
" GIT " Pancreas " Cervix " Ovary " Breast
The patient diagnosed by clinical picture
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What is the Most Common of ... MC Cause of
MC cause of Cell injury: Hypoxia
MC cause of Hypoxia: Ischemia
MC cause of Inflammation: Infection
MC cause of Impaired Wound Healing: Infection
MC cause of Acute Cor Pulmonale Pulmonary: Embolism
MC cause of Chronic Cor Pulmonale: COPD
MC cause of Superior Vena Caval Syndrome: Small Cell Carcinoma of Lung Compression
MC cause of Infection in Cystic fibrosis in Children: Staphylococcus aureus
MC cause of Infection in Cystic Fibrosis in adolescents and adults: Pseudomonas aeroginosa
MC cause of Seizure in Newborn: Hypoxia induced Ischemic Encephalopathy
MC cause of Epiglottitis in Children: Hemophilus influenza b
MC Lesion of Diabetic Retinopathy: Diffuse Glomerulosclerosis
MC Lesion in Asbestosis: Benign Pleural Plaques
MC Benign Lesion of Liver: Cavernous Hemangioma
MC Intracranial Lesion after Head Injury: Subdural Hemorrhage
MC cranial Nerve involved in Glomus tumour: Facial Nerve
MC Nerve palsy in Diabetic Retinopathy: Occulomotor
MC Nerve for Peripheral stimulation (Supramaximal Stimulation): Ulnar Nerve (Volar side of Wrist)
MC Nerve involved in Leprosy: 1st Posterior Tibial Nerve 2nd Ulnar Nerve
MC Nerve leading to Abscess: Ulnar Nerve
MC Nerve injured in anterior dislocation of shoulder: Circumflex branch of axillary nerve
MC Nerve injured in Fracture neck of Humerus: Axillary nerve
MC Nerve injured in Lunate Dislocation: Median Nerve
MC Nerve injured in Fracture medial epicondyle of Humerus: Ulnar nerve
MC Nerve injured in Supracondylar fracture of Humerus: 1st Anterior Interosseous Nerve 2nd Median Nerve 3rd Radial Nerve
MC Nerve injured in Forearm fractures especially Monteggia fracture: Posterior interosseous Nerve
MC Nerve involved in Perilunate dislocation: Median Nerve
MC Nerve injured in Posterior Dislocation of Hip: Sciatic nerve
MC Nerve injured in McBurney’s Incision: Iliohypogastric Nerve
MC Nerve involved in Thoracic outlet Syndrome: Ulnar Nerve
MC Nerve affected by Plexiform Neurofibroma: Trigeminal Nerve
MC Nerve injury in Postpartum Female: Common Peroneal Nerve
MC Route of Lead Intoxication: Inhalation
MC Occupational Cancer: Skin(Squamous cell carcinoma)
MC Mental Disorder causing death: Alzheimer’s and Other Dementia
MC Infection of Streptococcus pneumonia: Otitis Media
MC Gram Positive organism causing meningitis: Streptococcus pneumonia
MC Gram Negative organism causing meningitis: Neisseria meningitides
MC Source of Meningococcal meningitides: Carrier
MC Legionella causing Human disease: Legionella Pneumophilia
MC Diagnostic test in Lymphogranulorum venerum: Cell Culture
MC Infection Complicating Organ Transplantation: CMV
MC Genital Lesion in HIV patient: Herpes
MC organ affected in Amoebic Colitis: Caecum
MC organ affected in Visceral Leishmaniasis: Spleen
MC Diagnostic specimen for Visceral Leishmaniasis: Spleen
MC Parasitic Infection of CNS: Cysticercosis
MC Congenital Lesion complicated by Infective Endocarditis: VSD
MC association of Right sided aortic arch Tetrology of Fallot
MC condition associated with Coarctation of Aorta: Bicuspid Aortic Valve
MC Rheumatic Valvular Disease: Mitral Regurgitation
MC Renal Vein Thrombosis seen in Membranous Glomerulonephritis
MC Ectopic Ureter associated with: Dysuria
MC Symptomatic CNS infection in Neonates Rubella,HSV
MC Virus causing Diarrhoea in Infants: Rota Virus
MC Biochemical abnormality in Congenital Hypertrophic Pyloric Stenosis: Hypokalemic Hypochloremic Metabolic alkalosis with Paradoxical aciduria
MC Carcinoma of Breast: Intraductal Carcinoma
MC cells damaged during Hypoxia: Neurons
MC Thyroid carcinoma: Papillary
MC Thyroid carcinoma after radiation Papillary
MC etilogical agent for Lung Abscess: Anaerobic bacteria
MC Chronic Occupational disease in world: Silicosis
MC Renal Stones: Calcium Oxalate
MC CNS Herniation: Transtentorial Herniation
MC Demyelinating Disease: Multiple Sclerosis
MC mutated gene in Human cancer: P53
MC mutation in Hereditary Spherocytosis: Ankyrin
MC mutation in Hereditary Elliptocytosis: Spectrin
MC Congenitally absent muscle in Humans: Pectoralis Major
MC weakened muscle in Osteoarthritis: Quadriceps
MC fractured bone in carpus: Scaphoid
MC Injured organ in Blunt injury abdomen: Spleen
MC Hereditary blood coagulation disorder: Factor V Leiden
MC virus associated with Transfusion Hepatitis: HCV
MC Source of Hemorrhage in Duodenal Ulcer (Arterial): Gastroduodenal Artery
MC Lobe involved in Carcinoma Prostate: Posterior Lobe
MC Zone involved in Carcinoma Prostate: Peripheral Zone
MC Node involved in Ca Prostate Metastasis: Obturator Node
MC Congenital Deformity of Urethra: Hypospadiasis
MC Cancer in Burn Scar: Squamous Cell Carcinoma
MC Origin of Melanoma: Junctional Melanocytes
MC Clinical Pattern of Basal cell carcinoma: Nodular
MC Infection in Dry Wound in Burns: Pseudomonas
MC side of Unilateral Cleft Lip: Left
MC Salivary Gland to get Stones: Submandibular Gland
MC Type of Inflammation: Catarrhal
MC Type of Hemoglobinopathy in World: Thalassemia
MC Type of mutation causing β-Thalassemia: Splicing mutation
MC type of AML: M2
MC type of AML in Down’s Syndrome: M7
MC Type of Ca Penis: Squamous Cell Carcinoma
MC Type of Malignant Melanoma: Superficial Spreading Type
MC cause of Acute Adrenocortical Insufficiency: Abrupt withdrawal of Corticosteroids
MC cause of SIADH: Ectopic ADH by Small Cell Cancer
MC cause of Hyperaldosteronism: Conn’s Syndrome (Adrenocortical Adenoma-Left sided MC)
MC cause of Thyrotoxicosis: Grave’s Disease
MC cause of Hypothyroidism in Iodine Sufficient areas of the world: Autoimmune Hypothyroidism (Hashimoto’s Thyroiditis)
MC cause of Primary Hyperparathyroidism: Parathyroid Adenoma
MC cause of Secondary Hyperparathyroidism: Renal Failure
MC cause of Hypoparathyroidism: Surgical Removal of Parathyroid Gland
MC cause of Panhypopituitarism: Pituitary adenoma
MC cause of Cushing’s Syndrome: Administration of Exogenous Corticosteroids
MC cause of Congenital Adrenal Hyperplasia: 21α Hydroxylase Deficiency
MC cause of Right Heart Failure: Left Heart Failure
MC cause of Ascending Aorta Aneurysm: Hypertension
MC cause of Secondary Raynaud Phenomenon: Systemic Sclerosis
MC cause of Acute bacterial Endocarditis: Staphylococcus aureus
MC cause of Subacute Endocarditis: α Hemolytic Streptococci(Viridans)
MC cause of Prosthetic Valve Endocarditis: Staphylococcus epidermidis(Coagulase negative
MC cause of endocarditis in IV drug users: Staphylococcus aureus
MC cause of Bleeding during Tonsillectomy: Paratonsillar Vein
MC cause of arterial bleeding during Tonsillectomy: Tonsillar Branch of Facial Artery
MC cause of Left Recurrent Laryngeal Nerve Palsy: Ca Bronchus
MC cause of Right Recurrent Laryngeal Nerve Palsy: Thyroid Surgery
MC bacterial cause of Pustule: Streptococcus pyogenes
MC cause of Cellulitis: Streptococcus pyogenes
MC cause of Lobar Pneumonia: Streptococcus pnemoniae
MC cause of Bronchopneumonia: Staphylococcus aureus
MC cause of Otitis Media: Streptococcus pneumonia
MC cause of Septicaemia in Asplenic patient: Streptococcus pneumonia
MC cause of gas gangrene: Clostridium perfringens(A type)
MC cause of actinomycosis: Actinomyces Israeli
MC cause of mycetoma: Fungi
MC cause of UTI: E.coli
MC cause of Catheter associated UTI: E.coli
MC cause of Intraabdominal Abscess: E.coli
MC cause of Acute Bacterial Peritonitis: 1st E.coli 2nd Klebsiella
MC cause of Salmonella gastroenteritis: Salmonella typhimurum
MC bacterial cause of Traveller’s Diarrhoea: ETEC
MC viral cause of Traveller’s Diarrhoea: Rota virus
MC parasitic cause of Traveller’s Diarrhoea: Giardia
MC cause of Pyrexia of Unknown Origin: Mycobacterium tuberculosis
MC cause of Blood stained nipple discharge: Intraductal Papilloma
MC cause of Adenomatoid cancer: Follicular Carcinoma
MC cause of Thyroiditis: Hashimoto’s Thyroiditis
MC cause of Esophagitis: Esophageal Reflux
MC cause of Esophageal Perforation: Instrumentation
Whipple's disease ( intestinal lipodystrophy )
* It's form of malabsorption disease, caused by tropheryma whipplei organism.
* Typically in white men of middle age
* It's rare disease with unknown risk factors
Symptoms
* The symptoms start slowly
* Joint pain is the most common early symptoms
* GIT symptoms occure several years later
* Other symptoms like
" Abdominal pain " Diarrhea " Fever " Darkening of skin in light exposed area of the skin
" Joint pain [ ankle - knee - elbow - fingers - others ]
" Memory loss " Weight loss " mental changes
Physical Exam
* Enlarged lymph nodes
* Heart murmurs
* Oedema
Complications
* Brain damage
* Heart valve damage
* Weight loss
* Symptoms return
Investigations
* CBC * PCR * Fecal fat * Albumin level * D-xylose absorption
* Biopsy of small Bowel on periodic acid-schiff stain ( PAS ) → positive macrophages in lamina
properia contain Non-acid fast gram +ve bacilli
* Upper GIT endoscopy
Treatment
* Long term antibiotics to cure against CNS infection 👇
" Ceftraixone IV then TM-SM up to 1 year
" If symptoms back during antibiotics use → may change antibiotics
* Dietary supplements for malnutrition
Coeliac disease ( Gluten Enteropathy )
* Inheritance patterin is unknown
* Autoimmune disease abnormall sensitive to gluten protein found in wheat, rye, barley and others
* the risk of developing disease increased by variant HLA-DQA1 and HLA-DQB1 genes
* these genes binds to each other to form functional protein complex called antigene-binding DQαβ
heterodimer
* the only treatment is strict gluten-free diet
patterns of coeliac disease:-
( 1 ) Latent coeliac disease
* No symptoms
* Normal intestinal villi
* No Antibodies in bloodstream
( 2 ) Silent coeliac disease
* No symptoms
* Damaged intestinal villi
* There are Antibodies in bloodstream
( 3 ) Refractory Sprue
* Not improve with gluten-free diet
* Chronic inflammation of GIT
( 4 ) Non-classic coeliac disease
* No GIT symptoms
* Now it's more common than the classic form
( 5 ) Symptomatic coeliac disease ( classic form )
* Can develop at any age after start eating gluten-containing diet
* Result from inflammation of GIT which damages intestinal villi so it become shortened and
flatten out and so malabsorption occure
Symptoms:-
GIT
* Diarrhea *malabsorption * Weight loss * Abdominal pain * Abdominal distention
* Food intolerance * Increased risk of intestinal and esophageal cancers
Skin & General
* Iron deficiency anemia * Vitamins deficiency * Osteoprosis * Dermatitis herpatiforms
* Teath enemal defects * Chronic fatigue * Joint pain * Poor frowth
* Delayed puberty * Infertility * Repeats miscariages
Neurological
* Migraine * ADHD * Recurrent seziures
How to manage refractory celiac disease
1- In patients believed to have celiac disease who have persistent or recurrent symptoms or signs, the
initial diagnosis of celiac disease should be confirmed by review of prior diagnostic testing, including
serologies, endoscopies and histologic findings.
2- In patients with confirmed celiac disease with persistent or recurrent symptoms or signs (nonresponsive celiac disease), ongoing gluten ingestion should be excluded as a cause of these symptoms with serologic testing, dietitian review, and detection of immunogenic peptides in stool or urine. EGD with small bowel biopsies should be performed to look for villous atrophy. If villous atrophy persists or the initial diagnosis of celiac disease was not confirmed, consider other causes of villous atrophy, including common variable immunodeficiency, autoimmune enteropathy, tropical sprue and medication-induced enteropathy.
3- For patients with nonresponsive celiac disease, after exclusion of gluten ingestion, perform a systematic evaluation for other potential causes of symptoms, including functional bowel disorders, microscopic colitis, pancreatic insufficiency, inflammatory bowel disease, lactose or fructose intolerance and small intestinal bacterial overgrowth.
4- Use flow cytometry, immunohistochemistry and T-cell receptor rearrangement studies to distinguish between subtypes of refractory celiac disease and to exclude enteropathy-associated T-cell lymphoma. Type 1 refractory celiac disease is characterized by a normal intraepithelial lymphocyte population and type 2 is defined by the presence of an aberrant, clonal intraepithelial lymphocyte population. Consultation with an expert hematopathologist is necessary to interpret these studies.
5- Perform small bowel imaging with capsule endoscopy and computed tomography or magnetic resonance enterography to exclude enteropathy-associated T-cell lymphoma and ulcerative jejunoileitis at initial diagnosis of type 2 refractory celiac disease.
6- Complete a detailed nutritional assessment with investigation of micronutrient and macronutrient deficiencies in patients diagnosed with refractory celiac disease. Check albumin as an independent prognostic factor.
7- Correct deficiencies in macro- and micronutrients using oral supplements and/or enteral support. Consider parenteral nutrition for patients with severe malnutrition due to malabsorption.
8- Corticosteroids, most commonly open-capsule budesonide or, if unavailable, prednisone, are the medication of choice and should be used as first-line therapy in either type 1 or type 2 refractory celiac disease.
9- Patients with refractory celiac disease require regular follow-up by a multidisciplinary team, including gastroenterologists and dietitians, to assess clinical and histologic response to therapy. Identify local experts with expertise in celiac disease to assist with management.
10- Patients with refractory celiac disease without response to steroids may benefit from referral to a center with expertise for management or evaluation for inclusion in clinical trials.
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