Page 91 - Remedial Andrology
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c-myc                       MYC           8q24.21      Transcription factor that regulates
                                                                    cell cycle progression, apoptosis,
                                                                    and cellular transformations
             60 S ribosomal protein L13A  RPL13A       19q13.3      Repression of inflammatory genes
             Prothymosin alpha           PTMA          2q37.1       Influences chromatin remodeling,
                                                                    anti-apoptotic factor
             Fibroblast tropomyosin      TPM1          15q22.1      Actin-binding protein involved in
                                                                    contractile system of striated and
                                                                    smooth muscle
             Myosin light chain          MYL2          12q24.11     Regulatory light chain associated
                                                                    with myosin Beta heavy chain
             Filamin                     FLN           Xq28         Actin-binding protein that crosslinks
                                                                    actin filaments and links actin to
                                                                    membrane glycoproteins. Interacts
                                                                    with integrins
             Calcineurin A subunit alpha  PPP3CA       4q24         Promotes cell migration and invasion
                                                                    and inhibits apoptosis
             DNA binding protein inhibitor Id-2  ID2   2p25         Transcriptional regulator that inhibits
                                                                    the function of basic helix-loop-helix
                                                                    transcription factors by preventing
                                                                    their heterodimerisation, negatively
                                                                    regulates cell differentiation
             Smooth muscle gamma actin   ACTA2         10q23.3      Plays a role in cell motility, structure
                                                                    and integrity
             Desmin                      DES           2q35         Forms intra-cytoplasmic filamentous
                                                                    network connecting myofibrils
             Cadherin FIB2               PCDHGB4       5q31         Cell adhesion proteins expressed
                                                                    in fibroblasts and playing a role in
                                                                    wound healing
             Cadherin FIB1               DCHS1         11p15.4      Cell adhesion proteins expressed
                                                                    in fibroblasts and playing a role in
                                                                    wound healing
             SMAD family member 7        SMAD7         18q21.1      Interacts with and promotes
                                                                    degradation of TGFBR1
             Insulin-like growth factor binding  IGFBP6  12q13      Negative regulator of cellular
             protein 6                                              senescence inhuman fibroblasts
             Collagen 1 alpha            COL1A1        17q21.33     Encodes pro-alpha 1 chains of type
                                                                    1 collagen
             Transforming growth factor, beta 1  TGFB1  19q13.1     Cytokine that regulates proliferation,
                                                                    differentiation, adhesion and cell
                                                                    migration

            8.2.1.3   Risk factors
            The most commonly reported associated co-morbidity and risk factors are diabetes, hypertension,
            dyslipidaemias,  ischaemic cardiopathy, autoimmune diseases  [984],  ED, smoking,  excessive alcohol
            consumption, low testosterone levels and pelvic surgery (e.g., radical prostatectomy) [363, 969, 973, 985-987].
            Dupuytren’s contracture is more common in patients with PD affecting 8.3-39% of patients  [970, 988-990],
            while 4-26% of patients with Dupuytren’s contracture report PD [989, 991, 992].

            8.2.1.4   Pathophysiology
            Two phases of the disease can be distinguished [993]. The first is the active inflammatory phase (acute phase),
            which may be associated with painful erections and a palpable nodule or plaque in the tunica of the penis;
            typically, but not invariably, a penile curvature begins to develop. The second is the fibrotic phase (chronic
            phase) with the formation of hard, palpable plaques that can calcify, with stabilisation of the disease and of
            the penile deformity. With time, the penile curvature is expected to worsen in 21-48% of patients or stabilise
            in 36-67% of patients, while spontaneous improvement has been reported in only 3-13% of patients  [985,
            994-996]. Overall, penile deformity is the most common first symptom of PD (52-94%). Pain is the second
            most common presenting symptom of PD, which presents in 20-70% of patients during the early stages of the
            disease [997]. Pain tends to resolve with time in 90% of men, usually during the first 12 months after the onset




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