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

Constrictive Pericarditis

Etiology

- any cause of acute pericarditis may result in chronic pericarditis

Symptoms

- dyspnea, fatigue, palpitations
- abdominal pain

Signs

- 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)

Investigations

- 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

Management

- 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

Etiology

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 ,
Drainage must

The organized phase:

- Lung  trapped by thick peel or cortex
- Surgical management
- VATS,
- thorocotomy

Condition predispose to Empyema

Pulmonary infection:

- Unresolved pneumonia
- Broncietasis
- Tuberculosis
- Fungal infection
- Lung abscess

Aspiration of pleural effusion

Trauma :
- Penetrating injury
- Surgery
- 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

Nitazoxanide: Cryptosporidium

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

Thalassemia

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.

Beta thalassemia

Clinical features

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)

Alpha thalassemia

most commonly seen in people of Asian and African descent

Clinical features

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)

Diagnostics

Microcytic hypochromic anemia

Blood smear: target cells , teardrop cells

Bone marrow biopsy: reactive hyperplasia

Confirmatory tests

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

Types

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

Classification

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

Indications

Prolonged second stage of labor

Breech presentation

Nonreassuring fetal heart rate

To avoid/assist maternal pushing efforts

Prerequisites

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

Advantages
Scalp injuries are less common

Cannot undergo decompression and “pop off”

Complications

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
Dyspnea
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.
Headache
Confusion or changes in mental status
Encephalopathy

G: Gastrointestinal symptoms.
Abdominal pain
Nausea
Vomiting
Watery diarrhea

ION: Na ion decreases.
Hyponatremia (serum sodium level of 131 meq/L)

Aortic arches:

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.