Rishi Desai, MD, MPH

Bloom syndrome

NOTES NOTES  DNA REPLICATION & REPAIR DISORDERS  GENERALLY, WHAT ARE THEY? PATHOLOGY & CAUSES ▪ Group of rare, inherited disorders; mutations in DNA maintenance, repair genes → spectrum of cancers (typically early-onset cancer diagnosis)  SIGNS & SYMPTOMS ▪ See individual conditions  DIAGNOSIS LAB RESULTS  ▪ Genetic sequencing  OTHER DIAGNOSTICS ▪ Family history  TREATMENT OTHER INTERVENTIONS  ▪ Adequate malignancy surveillance ▪ Minimize sun, radiation exposure  BLOOM SYNDROME osms.it/bloom-syndrome PATHOLOGY & CAUSES ▪ Rare autosomal recessive disease; extreme susceptibility to DNA damage, immune deﬁciency, cancer Pathogenesis ▪ Instability of DNA duplexes during recombination, repair, replication → DNA mutation → oncogenesis  CAUSES  ▪ Mutation in BLM gene on chromosome 15q26.1 ▫ Encodes RecG helicase (AKA Bloom syndrome protein): helps maintain stability of DNA when duplexes  158 OSMOSIS.ORG  unwound during recombination, repair, replication  RISK FACTORS  ▪ Individuals of Ashkenazi Jewish descent  COMPLICATIONS  ▪ Infertility (more common in individuals who are biologically male) ▪ Dehydration due to reﬂux, vomiting, diarrhea in infancy ▪ Immunodeﬁciency → secondary infection, early predisposition to cancer ▪ Limited intellectual ability ▪ Fetal intrauterine growth restriction   

Cell membrane

Cell signaling pathways

Cell-cell junctions

Cellular structure and function

Cytoskeleton and intracellular motility

Endocytosis and exocytosis

Extracellular matrix

Nernst equation

Osmosis

Resting membrane potential

Selective permeability of the cell membrane

Cellular biology

Alport syndrome

Ehlers-Danlos syndrome

Marfan syndrome

Osteogenesis imperfecta

Primary ciliary dyskinesia

Vitamin C deficiency

Adrenoleukodystrophy (NORD)

Leukodystrophy

Zellweger spectrum disorders (NORD)

Cytoskeleton and elastin disorders: Pathology review

Peroxisomal disorders: Pathology review

Disorders of cellular biology

DNA cloning

ELISA (Enzyme-linked immunosorbent assay)

Fluorescence in situ hybridization

Gel electrophoresis and genetic testing

Karyotyping

Polymerase chain reaction (PCR) and reverse-transcriptase PCR (RT-PCR)

Laboratory techniques

Amino acids and protein folding

Cell cycle

DNA damage and repair

DNA mutations

DNA replication

DNA structure

Epigenetics

Gene regulation

Lac operon

Mitosis and meiosis

Nuclear structure

Nucleotide metabolism

Protein structure and synthesis

Transcription of DNA

Translation of mRNA

Molecular biology

Adenosine deaminase deficiency

Lesch-Nyhan syndrome

Orotic aciduria

Fanconi anemia

Li-Fraumeni syndrome

McCune-Albright syndrome

Xeroderma pigmentosum

Acute radiation syndrome

Purine and pyrimidine synthesis and metabolism disorders: Pathology review

Disorders of molecular biology

Bloom syndrome

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Bloom syndrome

Molecular biology

Disorders of molecular biology

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High Yield Notes

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Bloom syndrome

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