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FOLLOW THE ARROWS INSTRUCTIONS READ EACH QUESTION GIVE IT YOUR BEST SHOT GOOD LUCK! Israel Alfonso, MD.

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Presentation on theme: "FOLLOW THE ARROWS INSTRUCTIONS READ EACH QUESTION GIVE IT YOUR BEST SHOT GOOD LUCK! Israel Alfonso, MD."— Presentation transcript:

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2 FOLLOW THE ARROWS INSTRUCTIONS READ EACH QUESTION GIVE IT YOUR BEST SHOT GOOD LUCK! Israel Alfonso, MD

3 1. MUCOPOLYSACCHARIDES, ALSO KNOWN AS ______________ ARE THE BY PRODUCT OF COLLAGEN CATABOLISM: A. MUCOLIPIDS B. SPHINGOLIPIDS C. OLIGOSACCHARIDES D. GLYCOSAMINOGLYCANS

4 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

5 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

6 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE THIS SUBSTANCES ARE CALLED MUCOPOLYSACCHARIDES OR GLYCOSAMINOGLYCANS

7 1. MUCOPOLYSACCHARIDES ALSO KNOWN AS ______________ ARE THE BY PRODUCT OF COLLAGEN CATABOLISM: A. MUCOLIPIDS B. SPHINGOLIPIDS C. OLIGOSACCHARIDES D. GLYCOSAMINOGLYCANS

8 2. WHICH OF THE FOLLOWING CONDITIONS IS X-LINKED: A. HURLER SYNDROME B. SCHEIE SYNDROME C. HUNTER SYNDROME D. MORQUIO SYNDROME

9 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

10 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

11 THE ONLY OTHER X-LINKED LYSOSOMAL DISORDER IS FABRY X-LINKED HUNTER SYNDROME ONLY BOYS BOYS ARE GOOD HUNTERS

12 2. WHICH OF THE FOLLOWING CONDITIONS IS X-LINKED: A. HURLER SYNDROME B. SCHEIE SYNDROME C. HUNTER SYNDROME D. MORQUIO SYNDROME

13 3. A DEFICIENCY OF a -L- IDURONIDASE PRODUCES : A. HURLER SYNDROME B. HUNTER SYNDROME C. SANFILIPPO B D. SANFILIPPO A

14 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

15 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

16 COARSE FACE LIVERLIVER BIGBIG DYSOSTOSIS MULTIPLEX HURLER A-L-IDURONIDASE

17 3. A DEFICIENCY OF  -L- IDURONIDASE PRODUCES : A. HURLER SYNDROME B. HUNTER SYNDROME C. SANFILIPPO B D. SANFILIPPO A

18 4. WHICH OF THE FOLLOWING IS NOT ASSOCIATED WITH HURLER SYNDROME? A. BRACHIOCEPHALY B. HYPERTELORISM C. HEARING LOSS D. CORNEA CLOUDING

19 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

20 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

21 PROMINENT SUPRAORBITAL RIDGES FACIAL FEATURES OF HURLER SYNDROME APPEARS FROM 6 TO 24 MONTHS SCAPHOCEPHALY HEAVY EYE BROWS HYPERTELORISM FLAT NOSE BRIDGE LARGE NARES THICK LIPS DEAFNESS CORNEAL CLOUDING PROMINENT TONGUE

22 LARGE NARES THICK LIPS LESS PROMINENT APPEARS FROM 2 TO 4 YEARS PROMINENT SUPRAORBITAL RIDGES FACIAL FEATURES OF HUNTER SYNDROME SCAPHOCEPHALY HEAVY EYE BROWS HYPERTELORISM FLAT NOSE BRIDGE PROMINENT TONGUE

23 4. WHICH OF THE FOLLOWING IS NOT ASSOCIATED WITH HURLER SYNDROME? A. BRACHIOCEPHALY B. HYPERTELORISM C. HEARING LOSS D. CORNEA CLOUDING

24 5. WHICH OF THE FOLLOWING IS MORE COMMON IN INFANTS WITH HURLER SYNDROME: A. CARDIOMYOPATHY B. LIVER FAILURE C. FREQUENT BONE FRACTURES D. ASTHMA

25 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

26 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

27 DUE TO DEPOSITION OF DERMATAN AND HEPARAN SULFATE IN THE MYOCARDIUM AND VALVES

28 5. WHICH OF THE FOLLOWING IS MORE COMMON IN INFANTS WITH HURLER SYNDROME: A. CARDIOMYOPATHY B. LIVER FAILURE C. FREQUENT BONE FRACTURES D. ASTHMA

29 6. CHILDREN WITH HURLER SYNDROME FREQUENTLY HAVE UPPER RESPIRATORY SYMPTOMS AND OTITIS MEDIA, WHY? A. BAD IMMUNOLOGICAL SYSTEM B. ABNORMAL BONY CALVARIUM C. POOR HYGIENE D. ALLERGIES

30 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

31 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

32 CRANIAL DYSOSTOSIS ENLARGE J- SHAPED SELLA HYPOPLASIA OF MIDFACIAL BONES THICK SAGITTAL SYNOSTOSIS PARTIAL LAMBDOIDAL SYNOSTOSIS

33 6. CHILDREN WITH HURLER SYNDROME FREQUENTLY HAVE UPPER RESPIRATORY SYMPTOMS AND OTITIS MEDIA, WHY? A. BAD IMMUNOLOGICAL SYSTEM B. ABNORMAL BONY CALVARIUM C. POOR HYGIENE D. ALLERGIES

34 7. DYSTOSIS MULTIPLEX IN PATIENTS WITH HURLER SYNDROME IS CHARACTERIZED BY ALL OF THE FOLLOWING EXCEPT: A. OAR SHAPED RIBS B. ANTERIOR HYPOPLASIA OF THE LUMBAR VERTEBRAS C. HYPOPLASTIC ILIA D. LARGE FEMORAL HEADS

35 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

36 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

37 LONG BONES: BROAD AND SHORT HURLER SYNDROME BROAD, BULLET LIKE PHALANGES HYPOBLASTIC ILIA & FEMORAL HEAD ANTERIOR HYPOPLASIA OF THE VERTEBRAS AND KYPHOSIS

38 OAR-SHAPED RIBS ARE NARROW AT THE VERTEBRAL END AND BROAD AT THE STERNAL AGE HURLER SYNDROME

39 7. DYSTOSIS MULTIPLEX IN PATIENTS WITH HURLER SYNDROME IS CHARACTERIZED BY ALL OF THE FOLLOWING EXCEPT: A. OAR SHAPED RIBS B. ANTERIOR HYPOPLASIA OF THE LUMBAR VERTEBRAS C. HYPOPLASTIC ILIA D. LARGE FEMORAL HEADS

40 8. WHICH OF THE FOLLOWING SUBSTANCE IS EXCRETED IN THE URINE OF CHILDREN WITH HURLER SYNDROME? A. HEPARAN AND KERATAN B. KERATAN AND CHONDROTIN C. DERMATAN AND HEPARAN D. HEPARAN AND CHONDROTIN

41 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

42 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

43 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE HURLER SCHEIE HURLER-SCHEIE GLYCOSAMINOGLYCANS CATABOLISM  -L-IDURONIDASE HEPARAN SULFATE DERMATAN SULFATE 4p16.3 ENZYMES HEPARAN SULFATE DERMATAN SULFATE SIMPLE SUGAR

44 8. WHICH OF THE FOLLOWING SUBSTANCE IS EXCRETED IN THE URINE OF CHILDREN WITH HURLER SYNDROME? A. HEPARAN AND KERATAN B. KERATAN AND CHONDROTIN C. DERMATAN AND HEPARAN D. HEPARAN AND CHONDROTIN

45 9. THE GENE ENCODING  –L-IDURONIDASE, THE ENZYME INVOLVED IN HURLER SYNDROME IS LOCATED AT : A. 4p16.3 B. Xq28 C. 17q25.3 D. 7q21.1

46 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

47 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

48 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE HURLER SCHEIE HURLER-SCHEIE GLYCOSAMINOGLYCANS CATABOLISM  -L-IDURONIDASE HEPARAN SULFATE DERMATAN SULFATE 4p16.3 ENZYMES HEPARAN SULFATE DERMATAN SULFATE SIMPLE SUGAR

49 THE ONLY ONE OF THE MUCOPOLYSACCHARIDOSIS WITH GENE LOCATION IN THE SMALL ARM (p). 4p16.3

50 9. THE GENE ENCODING  –L-IDURONIDASE, THE ENZYME INVOLVED IN HURLER SYNDROME IS LOCATED AT : A. 4p16.3 B. Xq28 C. 17q25.3 D. 7q21.1

51 10. THE MOST FREQUENT CAUSE OF HYDROCEPHALUS IN PATIENTS WITH HURLER SYNDROME IS? A. AQUEDUCTAL STENOSIS B. OBSTRUCTION OF THE ORIFICE OF MONROE C. NON-COMMUNICATING HYDROCEPHALUS D. COMMUNICATING HYDROCEPHALUS

52 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

53 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

54 GOOD CSF FLOW (WHITE) TO THE CISTERNA MAGNA LATERAL VENTRICLE 3 rd VENTRICLE 4 th VENTRICLE CISTERNA MAGNA AQUEDUCT OF SILVIUS ORIFICE OF MONROE COMMUNICATING HYDROCEPHALUS

55 STIFF JOINTSHERNIA HURLER SYNDROME

56 NEUROLOGICAL DETERIORATION IN A PATIENT WITH HURLER SYNDROME MAY HAVE TWO CAUSES: 1) DEPOSITION OF GANGLIOSIDES IN THE NEURON (MECHANISM UNKNOWN, NATURAL COURSE OF THE DISEASE), 2) DEPOSITION OF MUCOPOLYSACCHARIDES IN THE MENINGES THUS BLOCKING THE INLETS OF THE CORPUSCLE OF PACCHIONI, OR 3) A COMBINATION

57 10. THE MOST FREQUENT CAUSE OF HYDROCEPHALUS IN PATIENTS WITH HURLER SYNDROME IS? A. AQUEDUCTAL STENOSIS B. OBSTRUCTION OF THE ORIFICE OF MONROE C. NON-COMMUNICATING HYDROCEPHALUS D. COMMUNICATING HYDROCEPHALUS

58 11. CORNEAL CLOUDING IS NOT A FEATURE OF? A. HURLER SYNDROME B. HURLER-SCHEIE SYNDROME C. SCHEIE SYNDROME D. HUNTER SYNDROME

59 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

60 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

61 MENTAL RETARDATION HEPATOMEGALY MYOCARDIOPATHY CORNEAL CLOUDINESS JOINT STIFFNESS OSTEO DYSTOSIS HURLER SYNDROME HURLER-SCHEIE SYNDROME SCHEIE SYNDROME MORQUIO SYNDROME

62 11. CORNEAL CLOUDING IS NOT A FEATURE OF? A. HURLER SYNDROME B. HURLER-SCHEIE SYNDROME C. SCHEIE SYNDROME D. HUNTER SYNDROME

63 12. WHICH OF THE FOLLOWING SUBSTANCE IS EXCRETED IN THE URINE OF CHILDREN WITH HUNTER SYNDROME? A. HEPARAN AND KERATAN B. KERATAN AND CHONDROTIN C. DERMATAN AND HEPARAN D. HEPARAN AND CHONDROTIN

64 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

65 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

66 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE HUNTER HEPARAN SULFATE DERMATAN SULFATE GLYCOSAMINOGLYCANS CATABOLISM IDURONATE SULFATASE HEPARAN SULFATE DERMATAN SULFATE X Xq28

67 LARGE NARES THICK LIPS APPEARS FROM 2 TO 4 YEARS PROMINENT SUPRAORBITAL RIDGES FACIAL FEATURES OF HUNTER SYNDROME SCAPHOCEPHALY HEAVY EYE BROWS HYPERTELORISM FLAT NOSE BRIDGE PROMINENT TONGUE LESS PROMINENT THAN HURLER COMMUNICATING HYDROCEPHALUS NO CORNEAL CLOUDING

68 12. WHICH OF THE FOLLOWING SUBSTANCE IS EXCRETED IN THE URINE OF CHILDREN WITH HUNTER SYNDROME? A. HEPARAN AND KERATAN B. KERATAN AND CHONDROTIN C. DERMATAN AND HEPARAN D. HEPARAN AND CHONDROTIN

69 13. SHE IS A 6 YEAR OLD GIRL WITH HUNTER SYNDROME. A. TRUE B. FALSE

70 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

71 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

72 LARGE NARES THICK LIPS APPEARS FROM 2 TO 4 YEARS PROMINENT SUPRAORBITAL RIDGES FACIAL FEATURES OF HUNTER SYNDROME SCAPHOCEPHALY HEAVY EYE BROWS HYPERTELORISM FLAT NOSE BRIDGE PROMINENT TONGUE LESS PROMINENT THAN HURLER COMMUNICATING HYDROCEPHALUS NO CORNEAL CLOUDING

73 HOW TO REMEMBER GIRLS DO NOT LIKE TO HUNT, SO THEY ARE NOT HUNTERS (ONLY BOYS). HUNTERS NEED GOOD VISION, SO THEY DO NOT HAVE CORNEAL CLOUDING.

74 13. SHE IS A 6 YEAR OLD GIRL WITH HUNTER SYNDROME. A. TRUE B. FALSE

75 14. THE ONSET OF FINDINGS OF HUNTER SYNDROME IS USUALLY BY? A. 2 TO 4 YEARS OF AGE B. 6 AND 24 MONTHS OF AGE C. FIRST 6 MONTHS OF LIFE D. 2 TO 6 YEARS OF AGE

76 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

77 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

78 AGE OF ONSET YEARS HURLER GM1 GANGLIOSIDOSIS HUNTER SANFILIPPO 6

79 14. THE ONSET OF FINDINGS OF HUNTER SYNDROME IS USUALLY BY? A. 2 TO 4 YEARS OF AGE B. 6 AND 24 MONTHS OF AGE C. FIRST 6 MONTHS OF LIFE D. 2 TO 6 YEARS OF AGE

80 15. MILD HEPATOMEGALY, HIRSUTISM OR BOTH IN A 6-YEAR-OLD WITH HYPERACTIVITY SHOULD MAKE YOU THINK OF? A. SCHEIE SYNDROME B. HURLER SYNDROME C. HUNTER SYNDROME D. SANFILIPPO SYNDROME

81 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

82 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

83 SCHEIE HURLER HUNTER SAN- FILIPPO NORMAL MENTAL DELAY + MENTAL DELAY +/- HYPER/ AGGRESSIVE

84 15. MILD HEPATOMEGALY, HIRSUTISM OR BOTH IN A 6-YEAR-OLD WITH HYPERACTIVITY SHOULD MAKE YOU THINK OF? A. SCHEIE SYNDROME B. HURLER SYNDROME C. HUNTER SYNDROME D. SANFILIPPO SYNDROME

85 16. WHICH OF THE FOLLOWING GLYCOSAMINOGLYCAN IS STORED IN SANFILIPPO SYNDROME? A. DERMATAN AND HEPARAN B. DERMATAN C. HEPARAN D. KERATAN AND DERMATAN

86 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

87 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

88 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SANFILIPPO A GLYCOSAMINOGLYCANS CATABOLISM HEPARAN N-SULFATASE HEPARAN SULFATE DERMATAN SULFATE 17q25.3

89 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SANFILIPPO B GLYCOSAMINOGLYCANS CATABOLISM  -N-ACYL GLUCOSAMINIDASE HEPARAN SULFATE DERMATAN SULFATE 17q21.

90 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SANFILIPPO C GLYCOSAMINOGLYCANS CATABOLISM ACETYL-COa ACYL TRANSFERASE HEPARAN SULFATE DERMATAN SULFATE

91 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SANFILIPPO D GLYCOSAMINOGLYCANS CATABOLISM N-ACYL GLUCOSAMINE 6- SULFATASE HEPARAN SULFATE DERMATAN SULFATE

92 16. WHICH OF THE FOLLOWING GLYCOSAMINOGLYCAN IS STORED IN SANFILIPPO? A. DERMATAN AND HEPARAN B. DERMATAN C. HEPARAN D. KERATAN AND DERMATAN

93 17. ALL OF THE FOLLOWING ENZYMES MAY BE INVOLVED SANFILIPPO SYNDROME, EXCEPT? A. HEPARAN-N-SULFATE B.  -N-ACETYL-GLUCOSAMINIDASE C. N-ACETYLGLUCOSAMINE 6 SULFATASE D.  -GALACTOSIDASE

94 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

95 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

96 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SANFILIPPO A GLYCOSAMINOGLYCANS CATABOLISM HEPARAN N-SULFATASE HEPARAN SULFATE DERMATAN SULFATE 17q25.3

97 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SANFILIPPO B GLYCOSAMINOGLYCANS CATABOLISM  -N-ACYL GLUCOSAMINIDASE HEPARAN SULFATE DERMATAN SULFATE 17q21.

98 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SANFILIPPO C GLYCOSAMINOGLYCANS CATABOLISM ACETYL-COa ACYL TRANSFERASE HEPARAN SULFATE DERMATAN SULFATE

99 12q14. PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SANFILIPPO D GLYCOSAMINOGLYCANS CATABOLISM N-ACYL GLUCOSAMINE 6- SULFATASE HEPARAN SULFATE DERMATAN SULFATE

100 17. ALL OF THE FOLLOWING ENZYMES MAY BE INVOLVED SANFILIPPO SYNDROME, EXCEPT? A. HEPARAN-N-SULFATE B.  -N-ACETYL-GLUCOSAMINIDASE C. N-ACETYLGLUCOSAMINE 6 SULFATASE D.  -GALACTOSIDASE

101 18. WHICH OF THE FOLLOWING IS NOT A FEATURE OF MORQUIO SYNDROME? A. CORNEAL CLOUDING B. MENTAL RETARDATION C. SHORT-TRUNK DWARFISM D. SKELETAL DYSPLASIA

102 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

103 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

104 CORNEAL CLOUDING MORQUIO

105

106

107 18. WHICH OF THE FOLLOWING IS NOT A FEATURE OF MORQUIO SYNDROME? A. CORNEAL CLOUDING B. MENTAL RETARDATION C. SHORT-TRUNK DWARFISM D. SKELETAL DYSPLASIA

108 19. WHICH OF THE FOLLOWING IS THE MOST PROMINENT FEATURE OF SANFILIPPO SYNDROME? A. CORNEAL CLOUDING B. MENTAL RETARDATION C. SHORT-TRUNK DWARFISM D. SKELETAL DYSPLASIA

109 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

110 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

111 6/15/97 SANFILIPPO SEVERE CNS INVOLVEMENT WITH LITTLE SYSTEMIC INVOLVEMENT

112 6/15/89 6/15/97 SANFILIPPO MINIMAL BONE INVOLVEMENT

113 19. WHICH OF THE FOLLOWING IS THE MOST PROMINENT FEATURE OF SANFILIPPO SYNDROME? A. CORNEAL CLOUDING B. MENTAL RETARDATION C. SHORT-TRUNK DWARFISM D. SKELETAL DYSPLASIA

114 20. THE GENE FOR SANFILIPPO SYNDROME A AND B ARE AT CHROMOSOME? A. 17 B. 4 C. 16 D. 5

115 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

116 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

117 17q25.3 6/15/97 SANFILIPPO A SEVERE CNS INVOLVEMENT WITH LITTLE SYSTEMIC INVOLVEMENT

118 NO MENTAL RETARDATION MORQUIO 16q24.3

119 20. THE GENE FOR SANFILIPPO SYNDROME A AND B ARE AT CHROMOSOME? A. 17 B. 4 C. 16 D. 5

120 21. ALL OF THE FOLLOWING ARE EXTRASKELETAL MANIFESTATION OF MORQUIO SYNDROME, EXCEPT? A. SPLENOMEGALY B. CORNEAL CLOUDING C. HEPATOMEGALY D. SMALL THIN TEETH

121 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

122 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

123 CORNEAL CLOUDING FREQUENT CARIES SMALL THIN TEETH CARDIOVASCULAR LESION HEPATOMEGALY

124 21. ALL OF THE FOLLOWING ARE EXTRASKELETAL MANIFESTATION OF MORQUIO SYNDROME, EXCEPT? A. SPLENOMEGALY B. CORNEAL CLOUDING C. HEPATOMEGALY D. SMALL THIN TEETH

125 22. WHICH OF THE FOLLOWING IS THE MOST FREQUENT MECHANISM OF CORD COMPRESSION IN MAROTEAUX-LAMY SYNDROME? A. THICKENING OF THE DURA B. C1-C2 SUBLUXATION C. SPINAL CORD STROKE D. SPINAL CORD BLEEDING

126 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

127 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

128 C1-C2 SUBLUXATION NO MENTAL RETARDATION MORQUIO 16q24.3

129 ODONTOID HYPOPLASIA ALSO OCCURS MAROTEAUX-LAMY SYNDROME CORD COMPRESSION DUE TO DURAL THICKENING HURLER-LIKE THAT LAGS IN DEVELOPING MENTAL RETARDATION (5 q13-14)

130 22. WHICH OF THE FOLLOWING IS THE MOST FREQUENT MECHANISM OF CORD COMPRESSION IN MAROTEAUX-LAMY SYNDROME? A. THICKENING OF THE DURA B. C1-C2 SUBLUXATION C. SPINAL CORD STROKE D. SPINAL CORD BLEEDING

131 23. WHICH OF THE FOLLOWING LYSOSOMAL STORAGE DISEASES MAY BE PRESENT AT BIRTH? A. HURLER SYNDROME B. HUNTER SYNDROME C. MORQUIO SYNDROME D. SLY SYNDROME

132 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

133 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

134 HYDROPS FETALIS URINE OLIGOSACCHARIDES SIALIDOSIS II GALACTOSIALIDOSIS  - MANNOSIDOSIS YES NO SIALIC ACID STORAGE DISEASE GAUCHER DISEASE SLY DISEASE I-CELL DISEASE Gilles L, Adams RD, Kolodny EH. Neurology of Hereditary Metabolic Diseases of the Child. McGraw-Hill, NY 1996 SERUM OR URINE FREE SIALIC ACIDS SERUM HIGH ACID PHOSPHATASE SERUM LYSOSOMES ENZYMES HIGH DERMATAN & HEPARAN SULFATE IN URINE & METACHROMATIC INCLUSION IN GRANULOCYTES

135 SLY SYNDROME 7q21.1 THEY LOOK LIKE PATIENTS WITH HURLERS SYNDROME BUT FROM BIRTH OR EVEN PRENATALLY, THEY USUALLY HAVE HYDROPS FETALIS

136 23. WHICH OF THE FOLLOWING LYSOSOMAL STORAGE DISEASES MAY BE PRESENT AT BIRTH? A. HURLER SYNDROME B. HUNTER SYNDROME C. MORQUIO SYNDROME D. SLY SYNDROME

137 24. WHICH OF THE FOLLOWING ENZYMES IS DEFICIENT IN SLY SYNDROME? A.  -L-IDURONIDASE B.  -GLUCURONIDASE C.  -GALACTOSIDASE D. GALACTOSE-6-SULFATASE

138 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

139 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

140 PROTEOLYTIC ENZYMES COLLAGEN FIBER HEPARAN SULFATE DERMATAN SULFATE KERATAN SULFATE CHONDROTIN SULFATE SLY GLYCOSAMINOGLYCANS CATABOLISM  GLUCURONIDASE HEPARAN SULFATE DERMATAN SULFATE CHONDROTIN SULFATE HEPARAN SULFATE 7q21.1

141 24. WHICH OF THE FOLLOWING ENZYMES IS DEFICIENT IN SLY SYNDROME? A.  -L-IDURONIDASE B.  -GLUCURONIDASE C.  -GALACTOSIDASE D. GALACTOSE-6-SULFATASE

142 25. WHICH OF THE FOLLOWING SUBSTANCES IS STORED IN THE CENTRAL NERVOUS SYSTEM LYSOSOMES OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS? A. GANGLIOSIDE B. HEPARAN C. DERMATAN D. KERATAN

143 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

144 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

145 GANGLIOSIDE

146 HEPARAN, DERMATAN AND KERATAN DO NOT CROSS THE BLOOD BRAIN BARRIER

147 HEPARAN, DERMATAN AND KERATAN MAY ACCUMULATE IN THE MENINGEAL CELLS AND AS YOU KNOW PRODUCE HYDROCEPHALUS

148 25. WHICH OF THE FOLLOWING SUBSTANCES IS STORED IN THE CENTRAL NERVOUS SYSTEM LYSOSOMES OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS? A. GANGLIOSIDE B. HEPARAN C. DERMATAN D. KERATAN

149 26. PRENATAL DIAGNOSIS OF ALL MUCOPOLYSACCHARIDOSIS IS POSSIBLE? A. TRUE B. FALSE

150 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

151 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

152 MEASUREMENT OF GLYCOAMINOGLYCANS FROM CULTURED AMNIOTIC CELLS CHRONIC VILLUS BIOPSY

153 26. PRENATAL DIAGNOSIS OF ALL MUCOPOLYSACCHARIDOSIS IS POSSIBLE? A. TRUE B. FALSE

154 27. THE INDICATION OF BONE MARROW TRANSPLANTATION INCLUDE: A. BONE PROBLEMS B. EYE PROBLEMS C. HURLER SYNDROME, LESS THAN 24 MONTHS AND MENTALLY FINE D. HUNTER SYNDROME

155 SHOW ME THE QUESTION AGAIN GO TO THE NEXT QUESTION I WANT TO SEE A CLUE, ANYWAY

156 I WANT TO TRY AGAIN JUST GIVE ME THE ANSWER GIVE ME A CLUE

157 ENZYME THERAPY IS COMINGS HURLER SYNDROME

158 27. THE INDICATIONS OF BONE MARROW TRANSPLANTATION INCLUDE: A. BONE PROBLEMS B. EYE PROBLEMS C. HURLER SYNDROME, LESS THAN 24 MONTHS AND MENTALLY FINE D. HUNTER SYNDROME

159 THE END I HOPE YOU HAVE LEARNED ALL YOU NEED TO KNOW ABOUT MUCOPOLYSACCHARIDOSIS THERE ARE NO MORE QUESTIONS


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