Alport’s Sd (most cases): "hereditary nephritis", type IV collagen deficit, mutation of COL4A5 ("colaas" - alpha-5 chain, type 4 collagen), hearing loss, ocular abnormalities (lens & cornea), hematuria since childhood (gross, micro)
Charcot Marie Tooth: loss of motor & sensory innervation, distal weakness & sensory loss, wasting in the legs, decreased deep tendon reflexes, tremor, foot deformity with a high arch is common (pes cavus), legs look like inverted champagne bottles. Most accurate test: electromyography. No tx.
Focal Dermal Hypoplasia: skin abnormalities and a wide variety of defects in eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems.
Fragile X Syndrome: CGG trinucleotid repeat, FMR 1 gene mutation, mental retardation, large ears and jaw, post-pubertal macro-orchidism (males), attention deficit disorder (females)
Hypophosphatemic rickets: infants may show growth retardation, widened joint spaces and flaring at the knees at age 1 (> boys), bowing of the weight-bearing long bones, young children-dentition absent or delayed, older children-multiple dental abscesses.
Incontinentia pigmenti: skin abnormalities (blister--> warts--> hyperpigmentation--> hypopigmentation), alopecia, hypodontia, cerebral atrophy, slow motor development, mental retardation, seizures, skeletal & structural anomalies. Letal >males.
Orofaciodigital Sd: OFD1 gene mutation, malformations of face, oral cavity, digits with polycystic kidney disease and variable involvement of the central nervous system.
RETT’s Sd: sporadic mutation of MECP2 gene, onset 2yo, acquired microcephaly, stopped development, motor & speech regression, autism-like behavior, self-mutilating behavior, inconsolable crying/screaming fits, emotional inversion, hypotonia, dystonia, chorea, bruxism, scholiosis, long QT
- any cause of acute pericarditis may result in chronic pericarditis
- dyspnea, fatigue, palpitations
- abdominal pain
- general examination - mimics CHF (especially right-sided HF)
• ascites, hepatosplenomegaly, edema
- pulses: increased JVP, Kussmaul's sign (paradoxical increased in JVP with inspiration),
- Friedrich's sign (prominent “y” descent > “x” descent)
- pressures: BP normal to decreased, +/– pulsus paradoxus
- precordial examination: +/– pericardial knock (early diastolic sound)
- 12 lead ECG: low voltage, flat T wave, +/– AF
- chest x-ray: pericardial calcification, effusions
- CT or MRI: pericardial thickening
- cardiac catheterization: equalization of RV and LV diastolic pressures, RVEDP > 1/3 of RV systolic pressure
- medical: diuretics, salt restriction
- surgical: pericardiectomy
• Thoracic empyema is purulent pleural effusion
• End stage of pleural effusion if not treated properly
• Thick pus with a thick cortex of fibrin and coagulum over lung
Most common cause : Parapneumonic, Postsurgical & post-traumatic
Most common: pneumonia → extension of bacterial infection into the pleural space
Less common: infected hemothorax, ruptured lung abscess, esophageal tear, thoracic trauma
Empyema due to pneumonia three phase
The exudative phase :
- protein > 3g/100 ml
- Infection from lung
- Antibiotics & aspiration or drainage
The fibrinopurulent phase :(next few days)
Pleural fluid become thick ,
The organized phase:
- Lung trapped by thick peel or cortex
- Surgical management
Condition predispose to Empyema
- Unresolved pneumonia
- Fungal infection
- Lung abscess
Aspiration of pleural effusion
- Penetrating injury
- Oesophgeal peforation
Extrapulmonary sources : Subphernic abscess
Bone infection osteomyelitits ribs and vertebra
Amphotericin B: Naegleria fowleri, Leishmania donovani
Metronidazole: Giardia lamblia, Trichomona vaginalis, Entamoeba hystolytica
Bendazoles or Pyrantel Pamoate: Enterobius vermicularis, Ascaris lumbricoides, Ancylostoma duodenale, Necator americanus (ne M atodes)
Mebendazole: Toxocara canis
Albendazole: Strongyloides stercolaris, Toxocara canis, neurocysticercosis, Echinococcus granulosus.
Paziquantel: Taenia solium, Schistosoma, Diphylobotrium latum, Clonorchis (P latyhelminthes)
Pyrimethamine + Sulfadiazine: Toxoplasma gondii
Suramin: Trypanosma bruceii (blood borne)
Melarsoprol: Trypanosoma bruceii (CNS)
Nifurtimox or Benznidazole: Trypanosoma cruzi
Quinidine (IV): severe Plasmodium infx
Mefloquine or Atovaquone/Proguanil: Plasmodium resistant
Atovaquone + Azythromycin: Babesia
Diethylcarbamazine (DEC): Loa loa, Wucheria bancrofti
Ivermectin: Onchocerca volvulus, Strongyloides stercolaris
Sodium stibogluconate (Pentavalent Antimony): Leishmania donovani
Cloroquine: Plasmodium falciparum, Plasmodium malariae
Cloroquine + Primaquine: Plasmodium ovale, Plasmodium vivax
Thalassemias are a heterogeneous group of hereditary blood disorders characterized by faulty globin chain synthesis resulting in defective hemoglobin, which can lead to anemia
Thalassemia provides partial resistance against malaria.
Minor variant (heterozygous): unremarkable symptoms (low risk of hemolysis, rarely splenomegaly)
Major variant (homozygous) Severe hemolytic anemia, Hepatosplenomegaly ,Growth retardation ,Skeletal deformities (high forehead, prominent zygomatic bones, and maxilla)
most commonly seen in people of Asian and African descent
Silent carrier: asymptomatic
Alpha thalassemia trait: mild hemolytic anemia with normal RBC and RDW
Hemoglobin H disease
Jaundice and anemia at birth
Chronic hemolytic anemia which may require transfusions
Hb-Bart's hydrops fetalis syndrome (most severe variant of alpha thalassemia)
Intrauterine ascites and hydrops fetalis, severe hepatosplenomegaly, and often cardiac and skeletal anomalies
Incompatible with life (death in utero or shortly after birth)
Microcytic hypochromic anemia
Blood smear: target cells , teardrop cells
Bone marrow biopsy: reactive hyperplasia
Hb-electrophoresis Alpha thalassemia can usually only be detected if ≥ 3 alleles are defective.
DNA analysis: to test for alpha thalassemia minor and minima (< 3 alleles defective)
Skeletal deformities -high forehead, prominent zygomatic bones and maxilla can be seen on all imaging modalities.
X-ray: hair-on-end (“crew cut”) sign
Tissue conduction velocity (m/s)
SA node - 0.05
Atrial pathways - 1
AV node - 0.02- 0.05
Bundle of His - 1
Purkinje system - 4
Ventricular muscles -1
a forcep is a metal device that enables gentle rotation and/or traction of the fetal head during vaginal delivery
Kielland: enables rotation and traction of the fetal head
Simpson: only enables traction of the fetal head
Barton: used for occiput transverse position of the fetal head
Piper: used to deliver the fetal head during breech delivery
Outlet: fetal head lies on the pelvic floor
Low: fetal head is below +2 station (not on the pelvic floor)
Mid: fetal head is below 0 station (not at +2 station)
High: fetal head is not engaged
Prolonged second stage of labor
Nonreassuring fetal heart rate
To avoid/assist maternal pushing efforts
Clinically adequate pelvic dimensions (see “Mechanics of childbirth”)
Full cervical dilation
Engagement of the fetal head
Knowledge of exact position and attitude of the fetal head
Emptied maternal bladder
No suspicion of fetal bleeding or bone mineralization disorders
Scalp injuries are less common
Cannot undergo decompression and “pop off”
Maternal: obstetric lacerations (cervix, vagina, uterus)
Fetal: head or soft-tissue trauma (e.g., scalp lacerations, injured ears), facial nerve palsy
Purines synthesis and metabolism
Purines are biologically synthesized as nucleotides and in particular as ribotides, i.e. bases attached to ribose 5-phosphate. Both adenine and guanine are derived from the nucleotide inosine monophosphate (IMP), which is the first compound in the pathway to have a completely formed purine ring system
The major site of purine synthesis is in the liver. Synthesis of the purine nucleotides begins with PRPP and leads to the first fully formed nucleotide, inosine 5'-monophosphate (IMP). This pathway is diagrammed below. The purine base without the attached ribose moiety is hypoxanthine.
Biosynthesis of purine and pyrimidine nucleotides requires carbon dioxide and the amide nitrogen of glutamine. Both use an amino acid nucleus – glycine in purine biosynthesis and aspartate in pyrimidine biosynthesis. Both use PRPP as the source of ribose 1-phosphate.
The end product of purine catabolism in man is uric acid.
Biosynthesis Of Pyrimidine Nucleotides
CO2 reacts with N of glutamine to form carbamoyl phosphate, which fuses with aspartate to form carbamoyl aspartate.
Carbamoyl aspartate on ring closure forms the first pyrimidine ring named OROTATE.
Orotate combines with PRPP to form OMP which is the first pyrimidine nucleotide.
OMP forms UMP which can be converted to CMP or dTMP
L: Lungs - Atypical pneumonia.
Relatively nonproductive cough
Pleuritic or non pleuritic chest pain
Confluent or patchy infiltrates on x-ray
Random fact: Interstitial infiltrates aren’t seen often like in other atypical pneumonias.
E: Encephalon - Neurologic abnormalities.
Confusion or changes in mental status
G: Gastrointestinal symptoms.
ION: Na ion decreases.
Hyponatremia (serum sodium level of 131 meq/L)
These are short vessels connecting ventral and dorsal aortae.
On each side they run within branchial i.e pharyngeal arches are based gradually the 4th and 5th week, in 6 pairs in total the first,
second and fifth pairs are developmental in perspective and they soon disappear.
1st aortic arch:
It disappears into a small portion persists, It also forms a piece of the maxillary artery.
2nd aortic arch:
It disappears into small portions of this arch contributing to the hyoid and stapedial arteries
3rd aortic arch:
It commonly carotid and initial segments of internal carotid artery.
4th aortic arch:
It has ultimate fate different on the right and left side on the left.
1. LEFT, both the proximal and distal segments are retained they are incorporated into the descending arch of the aorta.
2. RIGHT, the proximal segment of the right dorsal aorta persists and they are incorporated into the R subclavian artery
whereas the distal segment regresses.
5th aortic arch -
It is transient and soon obliterates.
6th aortic arch - pulmonary arch
1. RIGHT arch: this proximal segment is incorporated into the R pulmonary artery and the distal segment regresses.
2. LEFT arch: this proximal segment is incorporated into the L pulmonary artery and the distal segment persists as the ductus arteriosus.