Disorders

• Huntington Disease:

  • Progressive neurologic disorder
  • Symptoms usually manifest between 35 and 45 years of age
  • Characterized by loss of motor control and intellectual deterioration
• Facioscapulohumeral muscular dystrophy:

  • Results in muscle weakness
• Osteogenesis imperfecta:

  • Bones are exceedingly brittle
• Marfan Syndrome:

  • Disorder of connective tissue
  • Child is thinner and taller than normal
  • May have associated heart defects
• Trisomy 13 Syndrome (47XY13+ or 47XX13+), also known as Patau Syndrome:

  • Extra chromosome 13
  • Results in cognitive challenges
• Manifestations of Trisomy 13 Syndrome:

  • Midline body disorders (cleft lip and palate)
  • Heart disorders (VSD)
  • Abnormal genitalia
  • Microcephaly with disorders of the forebrain and forehead
  • Eyes are smaller than usual (microphthalmos) or absent
  • Low-set ears
• Trisomy 18 Syndrome (Edwards syndrome):

  • 47XX18+/47XY18+
  • 3 copies of chromosome 18
  • Characteristics:
  • Severely cognitively challenged
  • SGA
  • Markedly low-set ears
  • Small jaw
  • Misshapen fingers and toes (the index finger deviates or crosses over other finger)
  • Rocker-bottom feet
  • Mostly do not survive beyond infancy
• Cri-du-chat syndrome:

  • 46XX5P-/46XY5p-
  • Result of missing portion of chromosome 5
  • Characteristics:
  • Abnormal cry (cat-like cry)
  • Small head, wide set eyes, downward slant to the palpebral fissures of the eye
  • Recessed mandible
  • Severely cognitively challenged
• Turner Syndrome:

  • 45X0
  • Gonadal Dysgenesis
  • Has only 1 functional X chromosome
  • Characteristics:
  • Short in stature and has only streak (small and non-functional) ovaries
  • Sterile
  • Undeveloped secondary sex characteristics
  • Low set hairline
  • Short and Webbed-neck
  • Diagnosis: Nuchal translucency
  • Treatment: Human growth hormone
• Klinefelter Syndrome:

  • 47XXY
  • Males with an extra X chromosome
  • Characteristics:
  • Characteristics may not be noticeable but at puberty secondary sex characteristics do not develop
  • Child’s testes remain small and produce ineffective sperm
  • Gynecomastia and have an increased risk of male breast cancer
• Fragile X Syndrome:

  • 46XY23Q-
  • Most common cause of cognitive challenge in males
  • X-linked disorder (long arm of X chromosome)
  • Characteristics:
  • Before puberty, demonstrate maladaptive behavior (hyperactivity, aggression, or autism)
  • Reduced intellectual function with marked deficits in speech and arithmetic
  • Physical Examination: large head, long face with a high forehead, prominent lower jaw, large protruding ears, and obesity
  • Hyperextensive joints and cardiac disorder
  • After puberty, enlarged testicles may be evident
• Down Syndrome (Trisomy 21):

  • 47XX21+/47XY21+
  • Frequently occurring chromosomal disorder
  • Characteristics:
  • Nose – broad and flat
  • Eyelids have extra fold of tissue at the inner canthus (epicanthal fold)
  • Palpebral fissures tend to slant laterally upward
  • Brushfield spots – white specks in the iris
  • Protruding tongue (oral cavity is smaller than usual)
  • Back of the head is flat, neck is short, extra pad of fat at the base of the head
  • Low-set ears
  • Poor muscle tone (Rag doll appearance in infant)
• Paul Andrew Carmelo
• Exam breakdown


  • Prelims - 2 modules
  • Midterms - 3 modules
  • Finals - 3 modules
• Historical Development of the Church

  1. Foundation of the church

  2. Christians persecuted

  3. Four early church councils

  4. Medieval church and reformation

  5. Reformation and church counter reformation

  6. Church counter reformation

  7. Modern church (council of Trent to Vatican II)

  8. Timeline of Church History

  9. St. Augustine’s teachings on the church during his time
• St. Augustine’s teachings on the Church

  1. Donatism

  2. Manichaeism

  3. Pelagianism
• Etymology of the church


  The origin and history of the word "church"
• Marks of the church

  • One
  • Holy
  • Catholic
  • Apostolic
• St. Augustine’s teachings of the Church

  • Deified community
  • Church on earth
• Augustine’s sermon “on the anniversary of his ordination”
• Module 1: Historical Development of the Church

  1. What happened after ascension?

  2. Completion of the 12 apostles

  3. Pentecost

  4. Preaching of Peter

  5. First conversion

  6. Early Christian Community
• Since there were many converts, the apostles and the disciples could no longer attend to the spiritual or temporal needs of the Christians
• Persecution of the Early Church/Christians

  1. To give attention to the needs of the communities, they instituted the order of deacons

  2. Institution of the first 7 deacons

  3. Stephen’s Arrest and accusation

  4. Persecution of Christians under the Roman Empire
• Accusation: Blasphemy, false witness, speech against the holy place and the law
• Accusations against Christians: for treason, various rumored crimes, illegal assembly, introducing an alien cult that led to Roman apostasy, cannibalism, and immorality
• Accusations against Christians


  • Treason
  • Various rumored crimes
  • Illegal assembly
  • Introducing an alien cult that led to Roman apostasy
  • Cannibalism
  • Immorality
• For Romans, the emperor is GOD
• Notorious or hostile Roman emperors towards early Christians: Nero, Decius, Diocletian, Trajan, Marcus Aurelius, Domitian, etc.
• Brutality and harsh oppressions against the Early Christians by Roman emperors
• Early Christians grew in numbers despite persecution
• The powerful Roman empire failed to eradicate Christianity as a religion
• Tertulian: '“The blood of martyrs is the seed of Christianity.”'
• Apologetics


  Study of the defense of faith by the use of reason
• Apologist


  Person who is an expert in defending the faith by using reason
• Edict of Milan: Gave Christianity legal status and religious tolerance, ended the persecution of early Christians
• Edict of Thessalonica: Made Christianity, specifically Nicene Christianity, the official religion of the Roman Empire
• Four Early Church Councils: Responsible for combating heresies or false teachings, laid down theological data of Jesus and Mary in the church
• Four Early Church Councils

  • Nicaea
  • Constantinople
  • Ephesus
  • Chalcedon
• Medieval Church and Reformation (6th-15th AD): Theocracy in Europe and feudalism were the order of the day
• Divinity of God the Holy Spirit


  Definition of the divinity of God the Holy Spirit